]> 1.4 2.44 Bioportal mappings to BRENDA tissue / enzyme source (BTO) verunknown Bioportal mappings to Cell type (CL) verunknown Bioportal mappings to Chemical entities of biological interest (CHEBI) verunknown Bioportal mappings to Drosophila gross anatomy (FBbt) ver2011-02-10 Bioportal mappings to Foundational Model of Anatomy (FMA) ver3.1 Bioportal mappings to Gene Ontology (GO) ver1.886 Bioportal mappings to Human disease (DOID) ver Bioportal mappings to International Classification of Diseases (ICD-9) ver9 Bioportal mappings to MGED Ontology (MO) ver1.3.1.1 Bioportal mappings to Malaria Ontology (IDOMAL) ver1.22 Bioportal mappings to Mammalian phenotype (MP) vernull Bioportal mappings to Medical Subject Headings (MSH) ver2011_2010_08_30 Bioportal mappings to Microarray experimental conditions (MO) ver1.3.1.1 Bioportal mappings to Minimal anatomical terminology (MAT) ver1.1 Bioportal mappings to Mosquito gross anatomy (TGMA) version unknown Bioportal mappings to NCBI organismal classification (NCBITaxon) ver1.2 Bioportal mappings to NCI Thesaurus (NCIt) ver11.01e Bioportal mappings to NIFSTD (nif) ver2.2 - December 20, 2010 Bioportal mappings to Ontology for Biomedical Investigations (OBI) ver2010-10-26 Vancouver 2010 release, RC2 Bioportal mappings to Phenotypic quality (PATO) vernull Bioportal mappings to SNOMED Clinical Terms (SNOMEDCT) ver2010_07_31 Bioportal mappings to Teleost Anatomy Ontology (TAO) vernull Bioportal mappings to Teleost anatomy and development (TAO) ver1.158 Bioportal mappings to Units of measurement (UO) vernull Bioportal mappings to Zebrafish anatomy and development (ZFA) verunknown Date: 15th January 2014 Drashtti Vasant Ele Holloway Emma Kate Hastings Helen Parkinson James Malone Jon Ison Mappings to Plant structure (PO) Mappings: CRISP Thesaurus Version 2.5.2.0 Mappings: The Jackson Lab Mappings:The Arabidopsis Information Resource (TAIR) Tomasz Adamusiak Natalja Kurbatova Dani Welter Simon Jupp Eleanor Williams fma_set_term FMA has terms like 'set of X'. In general we do not include set-of terms in uberon, but provide a mapping between the singular form and the FMA set term fma_set_term true uberon has_scope spatially_disjoint_from A is spatially_disjoint_from B if they have no parts in common. Class: <http://www.w3.org/2002/07/owl#Nothing> EquivalentTo: (BFO_0000050 some ?X) and (BFO_0000050 some ?Y) non_overlapping_with shares_no_parts_with spatially_disjoint_from true true uberon A is spatially_disjoint_from B if they have no parts in common. SO:cjm has_synonym_type database_cross_reference has_obo_namespace alternative_term creator dc-creator dc-creator http://purl.org/dc/elements/1.1/creator true uberon definition present_in_taxon S present_in_taxon T if some instance of T has some S. This does not means that all instances of T have an S - it may only be certain life stages or sexes that have S applicable for taxon present_in_taxon true true uberon S present_in_taxon T if some instance of T has some S. This does not means that all instances of T have an S - it may only be certain life stages or sexes that have S https://orcid.org/0000-0002-6601-2165 A definition citation is a document, ontology class, person or organization from which the definition of the class is derived. It is used in the same sense as a citation in literature, in that the definition may have been derived from these sources or that this definition is related to these source. rhombomere number UBPROP:0000111 rhombomere_number rhombomere_number true uberon x rhombomere_number N if and only if (i) x is a rhombomere, and (ii) x is rhombomere number N in a series of rhombomeres repeated along an anterior-posterior axis, with rhombomere_number 1 being the anteriormost rhombomere. https://orcid.org/0000-0002-6601-2165 x rhombomere_number N if and only if (i) x is a rhombomere, and (ii) x is rhombomere number N in a series of rhombomeres repeated along an anterior-posterior axis, with rhombomere_number 1 being the anteriormost rhombomere. has_exact_synonym homologous_in 1 Status: experimental homologous_in uberon has_narrow_synonym has_broad_synonym external_definition An alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class. This annotation property may be replaced with an annotation property from an external ontology such as IAO 1 An alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class. This annotation property may be replaced with an annotation property from an external ontology such as IAO UBPROP:0000001 external_definition external_definition true uberon An alternate textual definition for a class taken unmodified from an external source. This definition may have been used to derive a generalized definition for the new class. https://orcid.org/0000-0002-6601-2165 never_in_taxon Class: <http://www.w3.org/2002/07/owl#Nothing> EquivalentTo: ?X and (RO_0002162 some ?Y) RO:0002161 S never_in_taxon T iff: S SubClassOf in_taxon only not T never_in_taxon never_in_taxon true true uberon PMID:20973947 S never_in_taxon T iff: S SubClassOf in_taxon only not T is count of UBPROP:0000100 is_count_of is_count_of true uberon shorthand in_subset definition expand assertion to taxon_notes UBPROP:0000008 taxon_notes taxon_notes true uberon has_alternative_id has_relational_adjective UBPROP:0000007 Used to connect a class to an adjectival form of its label. For example, a class with label 'intestine' may have a relational adjective 'intestinal'. has_relational_adjective has_relational_adjective true uberon preceding element is A property used in conjunction with repeated_element_number to indicate an axis and directionality along that axis. If P preceding_element_is R, and P is_count_of S, and X P N, and X' P N+1, then it follows that every X R some X', and the class expression [S and R some X' and inv(R) some X] is empty (i.e. X is followed by X', with no intermediates) UBPROP:0000101 preceding_element_is preceding_element_is true uberon A property used in conjunction with repeated_element_number to indicate an axis and directionality along that axis. If P preceding_element_is R, and P is_count_of S, and X P N, and X' P N+1, then it follows that every X R some X', and the class expression [S and R some X' and inv(R) some X] is empty (i.e. X is followed by X', with no intermediates) https://orcid.org/0000-0002-6601-2165 axiom_lost_from_external_ontology A textual description of an axiom loss in this ontology compared to an external ontology. This annotation property may be replaced with an annotation property from an external ontology such as IAO UBPROP:0000002 axiom_lost_from_external_ontology axiom_lost_from_external_ontology true uberon A textual description of an axiom loss in this ontology compared to an external ontology. https://orcid.org/0000-0002-6601-2165 homology_notes This annotation property may be replaced with an annotation property from an external ontology such as IAO 1 Notes on the homology status of this class. Notes on the homology status of this class. This annotation property may be replaced with an annotation property from an external ontology such as IAO UBPROP:0000003 homology_notes homology_notes true uberon Notes on the homology status of this class. https://orcid.org/0000-0002-6601-2165 has_related_synonym see also http://www.w3.org/2000/01/rdf-schema#seeAlso seeAlso seeAlso true uberon dubious_for_taxon S dubious_for_taxon T if it is probably the case that no instances of S can be found in any instance of T. dubious_for_taxon this relation lacks a strong logical interpretation, but can be used in place of never_in_taxon where it is desirable to state that the definition of the class is too strict for the taxon under consideration, but placing a never_in_taxon link would result in a chain of inconsistencies that will take time to resolve. Example: metencephalon in teleost true true uberon S dubious_for_taxon T if it is probably the case that no instances of S can be found in any instance of T. https://orcid.org/0000-0002-6601-2165 imported from homologous_in Status: experimental homologous_in true uberon has_role A relation between a continuant C and a role R. The reciprocal relation of role_of. http://www.ebi.ac.uk/efo/has_role part_of BFO:0000050 part_of part_of uberon has part has_part BFO:0000051 has_part has_part uberon occurs in is_about has_input http://www.ebi.ac.uk/efo/has_input is_input_of http://www.ebi.ac.uk/efo/is_input_of has_quality http://www.ebi.ac.uk/efo/has_quality has_output is_realized_by Relation between a realizable entity and a process. Reciprocal relation of realizes http://www.ebi.ac.uk/efo/is_realized_by realizes Relation between a process and a material fulfilling a role (i.e. realizing a role within the context of the process). For example a human realizing role of teacher within a lesson teching process. http://www.ebi.ac.uk/efo/realizes has_plasma_membrane_part only in taxon only_in_taxon RO:0002160 S only_in_taxon T iff: S SubClassOf in_taxon only T only_in_taxon only_in_taxon uberon PMID:20973947 S only_in_taxon T iff: S SubClassOf in_taxon only T develops_from develops from RO:0002202 develops_from develops_from uberon regulates capable_of capable of RO:0002215 capable_of capable_of uberon produces produces RO:0003000 produces produces uberon derives from/develops from part of related to bearer_of A relation between an entity and a dependent continuant; the reciprocal relation of inheres_in [GOC:cjm] example of usage: red eye bearer_of redness http://www.ebi.ac.uk/efo/EFO_0001377 inheres_in http://www.ebi.ac.uk/efo/EFO_0000829 role_of http://www.ebi.ac.uk/efo/is_role_of immediate_transformation_of direct_transformation_of http://semanticscience.org/resource/SIO_000658 immediate_transformation_of immediate_transformation_of immediately transforms from uberon direct_transformation_of https://orcid.org/0000-0002-6601-2165 SIO:000658 immediately transforms from has_tumor_type is_tumor_of has_disease_location is_location_of_disease is_broader_than relationship is_unit_of has_unit has_flag Relation to flag that an EFO class qualifies as an Atlas validation type http://www.ebi.ac.uk/efo/has_flag is_executed_in contained_in Containment obtains in each case between material and immaterial continuants, for instance: lung contained_in thoracic cavity; bladder contained_in pelvic cavity. Hence containment is not a transitive relation. If c part_of c1 at t then we have also, by our definition and by the axioms of mereology applied to spatial regions, c located_in c1 at t. Thus, many examples of instance-level location relations for continuants are in fact cases of instance-level parthood. For material continuants location and parthood coincide. Containment is location not involving parthood, and arises only where some immaterial continuant is involved. To understand this relation, we first define overlap for continuants as follows: c1 overlap c2 at t =def for some c, c part_of c1 at t and c part_of c2 at t. http://www.ebi.ac.uk/efo/contained_in contains http://www.ebi.ac.uk/efo/contains derived_into http://www.ebi.ac.uk/efo/derived_into derives_from Derivation as a relation between instances. The temporal relation of derivation is more complex. Transformation, on the instance level, is just the relation of identity: each adult is identical to some child existing at some earlier time. Derivation on the instance-level is a relation holding between non-identicals. More precisely, it holds between distinct material continuants when one succeeds the other across a temporal divide in such a way that at least a biologically significant portion of the matter of the earlier continuant is inherited by the later. Thus we will have axioms to the effect that from c derives_from c1 we can infer that c and c1 are not identical and that there is some instant of time t such that c1 exists only prior to and c only subsequent to t. We will also be able to infer that the spatial region occupied by c as it begins to exist at t overlaps with the spatial region occupied by c1 as it ceases to exist in the same instant. http://www.ebi.ac.uk/efo/derives_from has_part EFO_0000823 http://www.ebi.ac.uk/efo/has_part has_participant Has_participant is a primitive instance-level relation between a process, a continuant, and a time at which the A continuant participates in some way in the process. The relation obtains, for example, when this particular process of oxygen exchange across this particular alveolar membrane has_participant this particular sample of hemoglobin at this particular time. located_in http://www.ebi.ac.uk/efo/located_in location_of http://www.ebi.ac.uk/efo/location_of part_of EFO_0000822 For continuants: C part_of C' if and only if: given any c that instantiates C at a time t, there is some c' such that c' instantiates C' at time t, and c *part_of* c' at t. For processes: P part_of P' if and only if: given any p that instantiates P at a time t, there is some p' such that p' instantiates P' at time t, and p *part_of* p' at t. (Here *part_of* is the instance-level part-relation.) http://www.ebi.ac.uk/efo/part_of participates_in Participates in is a primitive instance-level relation between a continuant and a process in which it participates. For example a scanner participates in a scanning process at some specific time. HEK-293 cell Established from a human primary embryonal kidney transformed by adenovirus type 5. 293 cell A-293 cell A293 cell BTO:0000007 BrendaTissueOBO HEK cell HEK293 cell human embryonal kidney cell human embryonic kidney cell A-549 cell Human lung carcinoma established from an explanted lung tumor which was removed from a 58-year-old Caucasian man in 1972; cells were described to induce tumors in athymic mice and to synthesize lecithin. A549 cell BTO:0000018 BrendaTissueOBO NCI-A549 cell blood serum The cell-free portion of the blood from which the fibrinogen has been separated in the process of clotting. infected cell BTO:0000152 BrendaTissueOBO bronchoalveolar lavage Burkitt lymphoma cell African lymphoma cell BTO:0000164 BrendaTissueOBO Burkitt's lymphoma cell Burkitts lymphoma cell Malignant tumour cell of lymphoblasts derived from B-lymphocytes. Most commonly affects children in tropical Africa: both Epstein-Barr virus and immunosuppression due to malarial infection are involved. cell culture http://purl.obolibrary.org/obo/OBI_0100060 Cells taken from a living organism and grown under controlled conditions (in culture). Methods used to maintain cell lines or strains. cell suspension culture Particles floating in (not necessarily on) a liquid medium, or the mix of particles and liquid itself. http://purl.obolibrary.org/obo/CLO_0000029 cerebrovascular endothelial cell Endothelial cell of or involving the cerebrum and the blood vessels supplying it. BTO:0000238 BrendaTissueOBO myoblast cell line BrendaTissueOBO conidiophore A specialized fungal hypha that produces conidia. BTO:0000281 BrendaTissueOBO crypt A crypt is a deep pit that protrudes down into the connective tissue surrounding the small intestine. The epithelium at the base of the crypt is the site of stem cell proliferation and the differentiated cells move upwards and are shed 3-5 days later at the tips of the villi. BTO:0000305 BrendaTissueOBO culture condition:dark-grown cell elementary body The infectious form of chlamydiaceae. Infection occurs when the small, rigid-walled extracellular form (elementary body) enters the cell and changes into a larger, thin-walled form (initial body) that divides by fission. The daughter cells thus formed reorganize and condense to become elementary bodies that then infect other cells. The organisms are parasites of humans and other vertebrates, capable of producing a variety of diseases. They have also been found in arthropods. The family contains the genus Chlamydia. BTO:0000377 BrendaTissueOBO embryonic blood BTO:0000381 BrendaTissueOBO renal cell carcinoma cell line RCC cell line hypernephroma cell line kidney adenocarcinoma cell line renal cell adenocarcinoma cell line osteosarcoma cell line Cell line of a malignant neoplasm of the bone-forming tissues. BTO:0000407 BrendaTissueOBO osteoblastic sarcoma cell line osteogenic sarcoma cell line erythroleukemia cell Cancer cell of the blood-forming tissues in which large numbers of immature, abnormal red blood cells are found in the blood and bone marrow. BTO:0000426 BrendaTissueOBO lower epidermis The epidermal layer directed away or outwards from the axis. BTO:0000488 BrendaTissueOBO abaxial epidermis haustorium A food-absorbing outgrowth of a plant organ (as a hypha or stem). BTO:0000515 BrendaTissueOBO bone marrow cancer cell BTO:0000583 BrendaTissueOBO obsolete_K-562 cell Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene. BTO:0000664 BrendaTissueOBO 2.44 true Duplicate with class K562 http://www.ebi.ac.uk/efo/EFO_0002067 brain cancer cell line BTO:0000690 BrendaTissueOBO brain tumor cell line myeloid leukemia cell line A cell line of leukemia characterized by proliferation of myeloid tissue (as of the bone marrow and spleen) and an abnormal increase in the number of granulocytes, myelocytes, and myeloblasts in the circulating blood. BTO:0000740 BrendaTissueOBO granulocytic leukemia cell line myelocytic leukemia cell line myelogenous leukemia cell line colonic cancer cell line BTO:0000797 BrendaTissueOBO colon cancer cell line colon carcinoma cell line colonic carcinoma cell line melanoma cell line J774.2 cell Mouse, BALB/c, blood, not defined tumor cell line. Recloned from J774.1 original ascites and solid tumour. Produces IL-1. BTO:0001030 BrendaTissueOBO prostate cancer cell line BTO:0001033 BrendaTissueOBO CaP cell CaP cell line PCa cell PCa cell line prostate carcinoma cell line prostate gland cancer cell line prostate tumor cell line WEHI-231 cell Mouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma. BTO:0001093 BrendaTissueOBO prostate gland cancer cell A malignant tumour cell of glandular origin in the prostate. Over 95% are adenocarcinomas. BTO:0001130 BrendaTissueOBO prostate cancer cell prostate carcinoma cell prostate tumor cell prostate tumour cell saliva A slightly alkaline secretion of water, mucin, protein, salts, and often a starch-splitting enzyme, as ptyalin, that is secreted into the mouth by salivary glands, lubricates ingested food, and often begins the breakdown of starches. RT4-D6P2T cell Rat, nervous system, immature, Schwann cell derived cell line. BTO:0001205 BrendaTissueOBO D6P2T cell tissue culture B-lymphoma cell line B-cell lymphoma cell line BTO:0001518 BrendaTissueOBO colorectal cancer cell BTO:0001615 BrendaTissueOBO CRC cell colorectal carcinoma cell colorectal cancer cell line BTO:0001616 BrendaTissueOBO CRC cell line left ventricle The ventricles are the two lower chambers of the heart. The left ventricle is the chamber that receives blood from the left atrium and pumps it out under high pressure to the body via the aorta. right ventricle The lower right chamber of the heart that receives deoxygenated blood from the right atrium and pumps it under low pressure into the lungs via the pulmonary artery. Th1-cell Subset of helper-inducer T-lymphocytes which synthesize and secrete interleukin-2, gamma-interferon, and interleukin-12. Due to their ability to kill antigen-presenting cells and their lymphokine-mediated effector activity, Th1 cells are associated with vigorous delayed-type hypersensitivity reactions. BTO:0001678 BrendaTissueOBO Th1 cell Th2-cell Subset of helper-inducer T-lymphocytes which synthesize and secrete the interleukins IL-4, IL-5, IL-6, and IL-10. These cytokines influence B-cell development and antibody production as well as augmenting humoral responses. BTO:0001679 BrendaTissueOBO Th2 cell bursa of Fabricius A lymphoid organ that opens into the cloaca of birds and functions in B-cell production. coelomic fluid Coelomic fluid probably aids in oxygen transport and may contain some cells with hemoglobin. BTO:0001708 BrendaTissueOBO anterior silk gland BTO:0001795 BrendaTissueOBO stationary phase culture A cell culture at the plateau of the growth curve after log growth in a culture, during which cell number remains constant. New cells are produced at the same rate as older cells die. logarithmic phase culture A cell culture at the steepest slope of the growth curve of a culture-- at the phase of vigorous growth during which cell number doubles every 20-30 minutes. JURKAT E-6.1 cell BTO:0001948 BrendaTissueOBO Human, blood, leukemia, T cell line, clone E6.1. JURKAT E-61 cell cervical cancer cell line BTO:0001967 BrendaTissueOBO cervical carcinoma cell line cervix cancer cell HMEpC cell HMEC cell human mammary epithelial cell BrendaTissueOBO "Human Mammary Epithelial Cells (HMEpC) are derived from normal adult mammary glands." [Cell Applications Inc.:http\://cellapplications.com/] human mammary epithelial cell HMEC cell 184A1N4 cell A1N4 cell "The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene." [PMID:15827326] A1N4 cell BrendaTissueOBO 184B5 cell BrendaTissueOBO "The 184A1N4 and 184B5 cell lines are nontumorigenic cell lines derived from primary cultures of HMECs that were immortalized with benzo(a)pyrene." [PMID:15827326] culture supernatant The clear fluid above a sediment or precipitate of a cell culture. macrophage cell line BTO:0002278 BrendaTissueOBO J-774 cell BTO:0002279 BrendaTissueOBO J774 cell Mouse macrophage cell line. uterine leiomyosarcoma cell line BTO:0002488 BrendaTissueOBO RBA-2 cell BrendaTissueOBO "Rat brain-derived type-2 astrocyte cell line." [PMID:14575868] biofilm juvenile leaf Distinct from adult leaves, being characterized by particular anatomical traits namely, wax and trichome distribution, presence or absence of epidermal cell types, cell wall shape and biochemistry. The first juvenile leaves are e.g. the embryonic leaves found in the grass kernel (caryopsis). colonic epithelium cell line BTO:0003250 BrendaTissueOBO colon epithelial cell line colonic epithelial cell line HL-1 cell A cardiac muscle cell line from the AT-1 mouse atrial cardiomyocyte tumor lineage; established from an adult female Jackson Laboratory-inbred C57BLy6J mouse. BTO:0003264 BrendaTissueOBO HL1 cell COM-3 cell COM3 cell "A differentiating cell line, established from the mouse myoblastic cell line C2C12." [PMID:9227903] BrendaTissueOBO COM3 cell INC-2 cell INC2 cell BrendaTissueOBO "A non-differentiating cell line, established from the mouse myoblastic cell line C2C12." [PMID:9227903] INC2 cell vascular smooth muscle cell 2010-04-11T12:13:16Z BTO:0004578 BrendaTissueOBO VSMC cell mgr ES-E14 cell 2011-05-11T10:03:05Z BTO:0005136 BrendaTissueOBO E-14 cell E14 cell Mouse embryonic stem cell line. XPMUser Ma-Mel-11 cell Established melanoma cell line from the Skin Cancer Unit at the German Cancer Research Center, Heidelberg. 2012-03-23T09:11:06Z BTO:0005339 BrendaTissueOBO XPMUser ciprofloxacin "Blue Bone" Formation 1-CYCLOPROPYL-6-FLUORO-4-OXO-7-PIPERAZIN-1-YL-1,4-DIHYDROQUINOLINE-3-CARBOXYLIC ACID 1-Cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-yl-1,4-dihydro-quinoline-3-carboxylic acid 1-Cyclopropyl-6-fluoro-7-(4-methyl-piperazin-1-yl)-4-oxo-1,4-dihydro-quinoline-3-carboxylic acid 1-cyclopropyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid 1-cyclopropyl-6-fluoro-4-oxo-7-(piperazin-1-yl)-1,4-dihydroquinoline-3-carboxylic acid 1-cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-yl-1,4-dihydroquinoline-3-carboxylic acid 1-cyclopropyl-6-fluoro-4-oxo-7-piperazin-1-ylquinoline-3-carboxylic acid 1-cyclopropyl-6-fluoro-7-hexahydro-1-pyrazinyl-4-oxo-1,4-dihydro-3-quinolinecarboxylic acid 22824 2824 85721-33-1 ABL1 ABL1 Gene ABL1 Gene[accessedResource: C17H18FN3O3][accessDate: 05-04-2011] ABL1[accessedResource: C17H18FN3O3][accessDate: 05-04-2011] C17H18FN3O3 C17H18FN3O3 InChI=1/C17H18FN3O3/c18-13-7-11-14(8-15(13)20-5-3-19-4-6-20)21(10-1-2-10)9-12(16(11)22)17(23)24/h7-10,19H,1-6H2,(H,23,24)/f/h23H InChIKey=MYSWGUAQZAJSOK-MPIMZMORCO OC(=O)c1cn(C2CC2)c2cc(N3CCNCC3)c(F)cc2c1=O Quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively. A second generation fluoroquinolone antibacterial, it works by interfering with the enzymes that cause DNA to rewind after being copied, so stopping DNA and protein synthesis. This gene is involved in cell adhesion, differentiation, division and stress response. This gene is involved in cell adhesion, differentiation, division and stress response.[accessedResource: C17H18FN3O3][accessDate: 05-04-2011] ciprofloxacine ciprofloxacino ciprofloxacinum ciproxin; cipro v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene[accessedResource: C17H18FN3O3][accessDate: 05-04-2011] norfloxacin 1,4-Dihydro-1-ethyl-6-fluoro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid 1-Ethyl-6-fluor-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-chinolincarbonsaeure 1-Ethyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid Jon Ison NFLX http://www.ebi.ac.uk/efo/EFO_0003174 1-Ethyl-6-fluor-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-chinolincarbonsaeure "A synthetic fluoroquinolone with broad-spectrum antibacterial activity against most gram-negative and gram-positive bacteria. Norfloxacin is bactericidal and its mode of action depends on blocking of bacterial DNA replication by binding itself to an enzyme called DNA gyrase." [] 1,4-Dihydro-1-ethyl-6-fluoro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid Patent:DE2840910 "Patent" Patent:BE863429 "Patent" CiteXplore:6454381 "PubMed citation" CiteXplore:3317294 "PubMed citation" Patent:US4292317 "Patent" Beilstein:567897 "Beilstein Registry Number" KEGG COMPOUND:70458-96-7 "CAS Registry Number" 1-Ethyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid CiteXplore:6234465 "PubMed citation" Gmelin:1576626 "Gmelin Registry Number" NFLX CHEBI_7629 KEGG COMPOUND:C06687 "KEGG COMPOUND" CiteXplore:3908074 "PubMed citation" CiteXplore:6211142 "PubMed citation" Wikipedia:Norfloxacin "Wikipedia" ChemIDplus:70458-96-7 "CAS Registry Number" ChEMBL:100246 "ChEMBL COMPOUND" DrugBank:DB01059 "DrugBank" Patent:US4146719 "Patent" KEGG DRUG:D00210 "KEGG DRUG" CiteXplore:6224685 "PubMed citation" CiteXplore:6461606 "PubMed citation" NFLX 1-Ethyl-6-fluoro-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid 1,4-Dihydro-1-ethyl-6-fluoro-4-oxo-7-(1-piperazinyl)-3-quinolinecarboxylic acid 1-Ethyl-6-fluor-1,4-dihydro-4-oxo-7-(1-piperazinyl)-3-chinolincarbonsaeure warfarin (Phenyl-1 acetyl-2 ethyl) 3-hydroxy-4 coumarine 1-(4'-Hydroxy-3'-coumarinyl)-1-phenyl-3-butanone 2H-1-Benzopyran-2-one, 4-hydroxy-3-(3-oxo-1-phenylbutyl)- 3-(1'-Phenyl-2'-acetylethyl)-4-hydroxycoumarin 3-(alpha-Phenyl-beta-acetylaethyl)-4-hydroxycumarin 3-(alpha-Phenyl-beta-acetylethyl)-4-hydroxycoumarin 4-Hydroxy-3-(3-oxo-1-phenyl-butyl)-cumarin 4-Hydroxy-3-(3-oxo-1-phenylbutyl)coumarin 4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one Beilstein:1293536 C19H16O4 CC(=O)CC(c1ccccc1)c1c(O)c2ccccc2oc1=O Coumafene DrugBank:DB00682 InChI=1S/C19H16O4/c1-12(20)11-15(13-7-3-2-4-8-13)17-18(21)14-9-5-6-10-16(14)23-19(17)22/h2-10,15,21H,11H2,1H3 InChIKey=PJVWKTKQMONHTI-UHFFFAOYSA-N Patent:US2427578 Patent:US2765321 Patent:US2777859 Patent:US3239529 Warf 10 Wikipedia:Warfarin Zoocoumarin true warfarina warfarine warfarinum diltiazem (+)-cis-5-[2-(dimethylamino)ethyl]-2,3-dihydro-3-hydroxy-2-(p-methoxyphenyl)-1,5-benzothiazepin-4(5H)-one acetate ester (2S,3S)-5-(2-(dimethylamino)ethyl)-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydrobenzo[b][1,4]thiazepin-3-yl acetate (2S,3S)-5-[2-(dimethylamino)ethyl]-2-(4-methoxyphenyl)-4-oxo-2,3,4,5-tetrahydro-1,5-benzothiazepin-3-yl acetate (2S-cis)-3-(acetyloxy)-5-[2-(dimethylamino)ethyl]-2,3-dihydro-2-(4-methoxyphenyl)-1,5-benzothiazepin-4(5H)-one Acetic acid (2S,3S)-5-(2-dimethylamino-ethyl)-2-(4-methoxy-phenyl)-4-oxo-2,3,4,5-tetrahydro-benzo[b][1,4]thiazepin-3-yl ester Beilstein:3573079 C22H26N2O4S COc1ccc(cc1)[C@@H]1Sc2ccccc2N(CCN(C)C)C(=O)[C@@H]1OC(C)=O ChemIDplus:42399-41-7 Class imported / merged by efoimporter DILTIAZEM Diltiazem DrugBank:DB00343 InChI=1S/C22H26N2O4S/c1-15(25)28-20-21(16-9-11-17(27-4)12-10-16)29-19-8-6-5-7-18(19)24(22(20)26)14-13-23(2)3/h5-12,20-21H,13-14H2,1-4H3/t20-,21+/m1/s1 InChIKey=HSUGRBWQSSZJOP-RTWAWAEBSA-N KEGG COMPOUND:42399-41-7 KEGG COMPOUND:C06958 KEGG DRUG:D07845 NIST Chemistry WebBook:42399-41-7 Patent:DE1805714 Patent:DE3415035 Patent:US3562257 Patent:US4552695 Wikipedia:Diltiazem diltiazem diltiazemum 2-nitrofluorene 2-nitro-9H-fluorene 2-nitro-9H-fluorene 20971 607-57-8 971 A nitroarene that has formula C13H9NO2. A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath. A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C13H9NO2][accessDate: 05-04-2011] C13 Urea C13 Urea[accessedResource: C13H9NO2][accessDate: 05-04-2011] C13H9NO2 C13H9NO2 Helicosol Helicosol[accessedResource: C13H9NO2][accessDate: 05-04-2011] InChI=1/C13H9NO2/c15-14(16)11-5-6-13-10(8-11)7-9-3-1-2-4-12(9)13/h1-6,8H,7H2 InChIKey=XFOHWECQTFIEIX-UHFFFAOYAJ NF Nitrofluorene O=N(=O)c1ccc-2c(Cc3ccccc-23)c1 UREA, C-13 UREA, C-13[accessedResource: C13H9NO2][accessDate: 05-04-2011] Urea C-13 Urea C-13[accessedResource: C13H9NO2][accessDate: 05-04-2011] cefalotin (6R,7R)-3-(acetoxymethyl)-8-oxo-7-(thiophen-2-ylacetamido)-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid 3-Acetoxymethyl-7-(2-thienylacetamido)-3-cephem-4-carboxylic acid 7-(2-Thienylacetamido)cephalosporanic acid 7-(Thiophene-2-acetamido)cephalosporin 7beta-(thiophen-2-ylacetamido)-3-acetoxymethyl-3,4-didehydrocepham-4-carboxylic acid Beilstein:945586 C16H16N2O6S2 CEPHALOTHIN CET Cefalothin Cephalothin Cephalotin ChemIDplus:153-61-7 CiteXplore:10930630 CiteXplore:12569987 CiteXplore:12833570 CiteXplore:1384868 CiteXplore:1701026 CiteXplore:2083978 CiteXplore:6176550 Class imported / merged by efoimporter DrugBank:DB00456 InChI=1S/C16H16N2O6S2/c1-8(19)24-6-9-7-26-15-12(14(21)18(15)13(9)16(22)23)17-11(20)5-10-3-2-4-25-10/h2-4,12,15H,5-7H2,1H3,(H,17,20)(H,22,23)/t12-,15-/m1/s1 InChIKey=XIURVHNZVLADCM-IUODEOHRSA-N KEGG COMPOUND:C07761 KEGG DRUG:D07635 PDBeChem:CLS Patent:FR1384197 Patent:US3218318 Wikipedia:Cephalothin [H][C@@]1(NC(=O)Cc2cccs2)C(=O)N2C(C(O)=O)=C(COC(C)=O)CS[C@]12[H] cefalotin cefalotina cefalotine cefalotinum vitamin A true 3,3',4,4'-tetrachlorobiphenyl 22514 3,3',4,4'-tetrachloro-1,1'-biphenyl 3,3',4,4'-tetrachlorobiphenyl 3,4,3',4'-Tetra coplanar polychlorinated biphenyl 32598-13-3 A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04) A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)[accessedResource: C12H6Cl4][accessDate: 05-04-2011] A tetrachlorobiphenyl that has formula C12H6Cl4. C12H6Cl4 C12H6Cl4 Clc1ccc(cc1Cl)-c1ccc(Cl)c(Cl)c1 InChI=1/C12H6Cl4/c13-9-3-1-7(5-11(9)15)8-2-4-10(14)12(16)6-8/h1-6H InChIKey=UQMGJOKDKOLIDP-UHFFFAOYAU Ras (sub 5-17) Peptide (C12) Ras (sub 5-17) Peptide (C12)[accessedResource: C12H6Cl4][accessDate: 05-04-2011] Ras Peptide CYS Ras Peptide CYS[accessedResource: C12H6Cl4][accessDate: 05-04-2011] acetoacetate 141-81-1 20955 3-oxobutanoate 3-oxobutanoate 40955 Acetoacetate ion(1-) Butanoic acid, 3-oxo-, ion(1-) C4H5O3 C4H5O3 C4[accessedResource: C4H5O3][accessDate: 05-04-2011] CC(=O)CC([O-])=O Complement C4 Complement C4 Measurement[accessedResource: C4H5O3][accessDate: 05-04-2011] Complement C4[accessedResource: C4H5O3][accessDate: 05-04-2011] Complement Component-4 Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components. InChI=1/C4H6O3/c1-3(5)2-4(6)7/h2H2,1H3,(H,6,7)/p-1/fC4H5O3/q-1 InChIKey=WDJHALXBUFZDSR-TZWAVNMPCM The determination of the amount of complement C4 present in a sample. The determination of the amount of complement C4 present in a sample.[accessedResource: C4H5O3][accessDate: 05-04-2011] selenate A selenium oxoanion that has formula O4Se. InChI=1/H2O4Se/c1-5(2,3)4/h(H2,1,2,3,4)/p-2/fO4Se/q-2 InChIKey=QYHFIVBSNOWOCQ-VMRORRRTCU O4Se SELENATE ION [O-][Se]([O-])(=O)=O [SeO4](2-) tetraoxidoselenate(2-) acetaldehyde ACETALDEHYDE Acetaldehyd Acetaldehyde Azetaldehyd Beilstein:505984 C2H4O ChEMBL:385804 ChemIDplus:75-07-0 CiteXplore:15239123 CiteXplore:18001279 CiteXplore:2233695 CiteXplore:4239189 CiteXplore:5526694 CiteXplore:6036728 Class imported / merged by efoimporter Ethanal Gmelin:779 HMDB:HMDB00990 InChI=1S/C2H4O/c1-2-3/h2H,1H3 InChIKey=IKHGUXGNUITLKF-UHFFFAOYSA-N KEGG COMPOUND:75-07-0 KEGG COMPOUND:C00084 NIST Chemistry WebBook:75-07-0 PDBeChem:ACU Reaxys:505984 UM-BBD:c0160 Wikipedia:Acetaldehyde [H]C(C)=O acetaldehyde acetaldehydes acetic aldehyde ethyl aldehyde acetone 2-Propanone 67-64-1 A propanone that has formula C3H6O. Aceton Azeton C3H6O CC(C)=O Dimethyl ketone Dimethylketon InChI=1/C3H6O/c1-3(2)4/h1-2H3 InChIKey=CSCPPACGZOOCGX-UHFFFAOYAF Propanon dimethylcetone methyl ketone propan-2-one propanone acetylsalicylic acid 2-(ACETYLOXY)BENZOIC ACID 2-(acetyloxy)benzoic acid 2-Acetoxybenzenecarboxylic acid 2-acetoxybenzoic acid ASA Acetylsalicylate Acetylsalicylic acid Acetylsalicylsaeure Aspirin Azetylsalizylsaeure Beilstein:779271 C9H8O4 CC(=O)Oc1ccccc1C(O)=O ChEMBL:101280 ChemIDplus:50-78-2 CiteXplore:11402787 CiteXplore:11597554 CiteXplore:11733186 CiteXplore:12852484 CiteXplore:14753751 CiteXplore:15542410 CiteXplore:15590729 CiteXplore:1650428 CiteXplore:18226435 CiteXplore:18335236 CiteXplore:19386367 CiteXplore:19706045 CiteXplore:21699808 CiteXplore:445303 Class imported / merged by efoimporter DrugBank:DB00945 Easprin Gmelin:218864 InChI=1S/C9H8O4/c1-6(10)13-8-5-3-2-4-7(8)9(11)12/h2-5H,1H3,(H,11,12) InChIKey=BSYNRYMUTXBXSQ-UHFFFAOYSA-N KEGG COMPOUND:50-78-2 KEGG COMPOUND:C01405 KEGG DRUG:D00109 NIST Chemistry WebBook:50-78-2 O-acetylsalicylic acid PDBeChem:AIN Reaxys:779271 Wikipedia:Aspirin acide 2-(acetyloxy)benzoique acide acetylsalicylique acido acetilsalicilico acidum acetylsalicylicum http://www.ebi.ac.uk/efo/EFO_0001462 http://www.ebi.ac.uk/efo/EFO_0001463 o-acetoxybenzoic acid o-carboxyphenyl acetate salicylic acid acetate acetic acid 24394 4394 64-19-7 A simple carboxylic acid containing two carbons; the active ingredient in vinegar. The building block of natural fatty acids which, unlike them, does not occur in natural triglycerides. Reported to suppress accumulation of body fat and liver lipids in mice. C2 Mouse C2 Mouse[accessedResource: C2H4O2][accessDate: 05-04-2011] C2H4O2 C2H4O2 C2[accessedResource: C2H4O2][accessDate: 05-04-2011] CC(O)=O CH3-COOH Essigsaeure Ethanoic acid Ethylic acid HOAc InChI=1/C2H4O2/c1-2(3)4/h1H3,(H,3,4)/f/h3H InChIKey=QTBSBXVTEAMEQO-TULZNQERCK Methanecarboxylic acid acetic acid acide acetique ethoic acid all-trans-retinoic acid (2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid (all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid 3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ECL) AGN 100335 Acide retinoique (French) (DSL) Beilstein:2057223 C20H28O2 CC(\\C=C\\C1=C(C)CCCC1(C)C)=C/C=C/C(C)=C/C(O)=O ChEMBL:102208 ChemIDplus:302-79-4 Class imported / merged by efoimporter DrugBank:DB00755 InChI=1S/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)/b9-6+,12-11+,15-8+,16-14+ InChIKey=SHGAZHPCJJPHSC-YCNIQYBTSA-N KEGG COMPOUND:302-79-4 KEGG COMPOUND:C00777 LIPID MAPS:LMPR01090019 PDBeChem:REA RETINOIC ACID Renova Retin-A Retinoic acid Retisol-A Ro 1-5488 Stieva-A Tretin M Tretinoine (French) (EINECS) Vesanoid Vitamin A acid Wikipedia:Tretinoin all-(E)-Retinoic acid all-trans-Retinoic acid all-trans-Tretinoin all-trans-Vitamin A acid all-trans-Vitamin A1 acid all-trans-beta-Retinoic acid beta-Retinoic acid http://www.ebi.ac.uk/efo/EFO_0001481 trans-Retinoic acid tretinoin endothelin-1 CHEBI_153671 Ele Holloway Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002728 acrolein 107-02-8 20023 23 Acrylaldehyde Acrylic aldehyde An enal that has formula C3H4O. C3 Gene C3 Gene[accessedResource: C3H4O][accessDate: 05-04-2011] C3H4O C3H4O C3[accessedResource: C3H4O][accessDate: 05-04-2011] Complement Component 3 Gene Complement Component 3 Gene[accessedResource: C3H4O][accessDate: 05-04-2011] InChI=1/C3H4O/c1-2-3-4/h2-3H,1H2 InChIKey=HGINCPLSRVDWNT-UHFFFAOYAQ Propenal This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H4O][accessDate: 05-04-2011] [H]C(=C)C([H])=O acrylaldehyde 5,6,7,8-tetrahydrobiopterin 2-Amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydoro-4(1H)-pteridinone 2-amino-6-(1,2-dihydroxypropyl)-5,6,7,8-tetrahydropteridin-4(3H)-one 5,6,7,8-TETRAHYDROBIOPTERIN 5,6,7,8-Tetrahydrobiopterin 5,6,7,8-tetrahydrobiopterin BH4 Beilstein:544742 C9H15N5O3 CC(O)C(O)C1CNc2nc(N)[nH]c(=O)c2N1 ChEMBL:331300 ChemIDplus:17528-72-2 Class imported / merged by efoimporter DrugBank:DB00360 Ele Holloway InChI=1S/C9H15N5O3/c1-3(15)6(16)4-2-11-7-5(12-4)8(17)14-9(10)13-7/h3-4,6,12,15-16H,2H2,1H3,(H4,10,11,13,14,17) InChIKey=FNKQXYHWGSIFBK-UHFFFAOYSA-N James Malone KEGG COMPOUND:17528-72-2 KEGG COMPOUND:C00272 PDBeChem:H4B Tetrahydrobiopterin http://www.ebi.ac.uk/efo/EFO_0002397 water An inorganic hydroxy compound that has formula H2O. BOUND WATER H2O HOH InChI=1/H2O/h1H2 InChIKey=XLYOFNOQVPJJNP-UHFFFAOYAF James Malone Jie Zheng MO_380 Tomasz Adamusiak Wasser [H]O[H] [OH2] acqua agua aqua dihydridooxygen dihydrogen oxide eau http://mged.sourceforge.net/ontologies/MGEDOntology.owl#water http://www.ebi.ac.uk/efo/EFO_0001637 hydrogen hydroxide oxidane oxygen A homoatomic molecule that has formula O2. An elemental molecule that has formula O2. CHEBI_15379 Disauerstoff InChI=1/O2/c1-2 InChIKey=MYMOFIZGZYHOMD-UHFFFAOYAM O(2) O2 O=O OXYGEN MOLECULE dioxygen dioxygene http://www.ebi.ac.uk/efo/EFO_0002675 molecular oxygen S-adenosyl-L-methionine (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt Acylcarnitine AdoMet Beilstein:3576439 C15H23N6O5S COMe:MOL000172 C[S+](CC[C@H](N)C(O)=O)C[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1cnc2c(N)ncnc12 ChemIDplus:29908-03-0 InChI=1S/C15H22N6O5S/c1-27(3-2-7(16)15(24)25)4-8-10(22)11(23)14(26-8)21-6-20-9-12(17)18-5-19-13(9)21/h5-8,10-11,14,22-23H,2-4,16H2,1H3,(H2-,17,18,19,24,25)/p+1/t7-,8+,10+,11+,14+,27?/m0/s1 InChIKey=MEFKEPWMEQBLKI-AIRLBKTGSA-O KEGG COMPOUND:29908-03-0 KEGG COMPOUND:C00019 S-(5'-deoxyadenosin-5'-yl)-L-methionine S-Adenosyl-L-methionine S-Adenosylmethionine S-adenosylmethionine SAM SAMe [(3S)-3-amino-3-carboxypropyl](5'-deoxyadenosin-5'-yl)(methyl)sulfonium [1-(adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium true prostaglandin E2 (15S)-prostaglandin E2 (5Z,11alpha,13E,15S)-11,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid (5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprost-13-enoate (5Z,13E)-(15S)-11alpha,15-Dihydroxy-9-oxoprosta-5,13-dienoate (5Z,13E,15S)-11alpha,15-dihydroxy-9-oxoprosta-5,13-dien-1-oic acid (E,Z)-(1R,2R,3R)-7-(3-Hydroxy-2-((3S)-(3-hydroxy-1-octenyl))-5-oxocyclopentyl)-5-heptenoic acid (Z)-7-((1R,2R,3R)-3-hydroxy-2-((S,E)-3-hydroxyoct-1-enyl)-5-oxocyclopentyl)hept-5-enoic acid Beilstein:2224724 C20H32O5 CCCCC[C@H](O)\\C=C\\[C@H]1[C@H](O)CC(=O)[C@@H]1C\\C=C/CCCC(O)=O ChemIDplus:363-24-6 Class imported / merged by efoimporter Dinoproston Dinoprostone DrugBank:DB00917 InChI=1S/C20H32O5/c1-2-3-6-9-15(21)12-13-17-16(18(22)14-19(17)23)10-7-4-5-8-11-20(24)25/h4,7,12-13,15-17,19,21,23H,2-3,5-6,8-11,14H2,1H3,(H,24,25)/b7-4-,13-12+/t15-,16+,17+,19+/m0/s1 InChIKey=XEYBRNLFEZDVAW-ARSRFYASSA-N KEGG COMPOUND:363-24-6 KEGG COMPOUND:C00584 KEGG DRUG:D00079 LIPID MAPS:LMFA03010003 PGE2 Patent:DE2011969 Patent:GB851827 Patent:NL6505799 Patent:US3598858 Prepidil Propess Prostaglandin E2 Prostin E2 Wikipedia:Dinoprostone dinoprostona dinoprostone dinoprostonum (15Z)-12-oxophyto-10,15-dienoic acid (15Z)-12-Oxophyto-10,15-dienoate 12-OPDA 12-Oxo-10,15(Z)-phytodienoic acid 12-oxophytodienoic acid 23705 4-oxo-5-(2-pentenyl)-2-Cyclopentene-1-octanoic acid 43705 67204-66-4 8-(2-(cis-2'-Pentenyl)-3-oxo-cis-4-cyclopentenyl)octanoic acid 8-{(1S,5S)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid 8-{(1S,5S)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid 9(S),13(S)-12-Oxo-PDA An omega-3 fatty acid that has formula C18H28O3. C18H28O3 C18H28O3 CC\\C=C/C[C@H]1[C@@H](CCCCCCCC(O)=O)C=CC1=O EFABP EFABP[accessedResource: C18H28O3][accessDate: 05-04-2011] Epidermal Fatty Acid-Binding Protein Epidermal Fatty Acid-Binding Protein[accessedResource: C18H28O3][accessDate: 05-04-2011] Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI) Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H28O3][accessDate: 05-04-2011] FABP5 FABP5[accessedResource: C18H28O3][accessDate: 05-04-2011] Fatty Acid Binding Protein 5 Fatty Acid Binding Protein 5[accessedResource: C18H28O3][accessDate: 05-04-2011] InChI=1/C18H28O3/c1-2-3-7-11-16-15(13-14-17(16)19)10-8-5-4-6-9-12-18(20)21/h3,7,13-16H,2,4-6,8-12H2,1H3,(H,20,21)/b7-3-/t15-,16-/m0/s1/f/h20H InChIKey=PMTMAFAPLCGXGK-OFJIPWNVDL OPDA PAFABP PAFABP[accessedResource: C18H28O3][accessDate: 05-04-2011] staurosporine (5S,6R,7R,9R)-6-methoxy-5-methyl-7-methylamino-6,7,8,9,15,16-hexahydro-5H,14H-5,9-epoxy-4b,9a,15-triazadibenzo[b,h]cyclonona[1,2,3,4-jkl]cyclopenta[e]-as-indacen-14-one An indolocarbazole alkaloid that has formula C28H26N4O3. An organic heterooctacyclic compound that has formula C28H26N4O3. C28H26N4O3 CHEBI_15738 CN[C@@H]1C[C@H]2O[C@@](C)([C@@H]1OC)n1c3ccccc3c3c4CNC(=O)c4c4c5ccccc5n2c4c13 InChI=1/C28H26N4O3/c1-28-26(34-3)17(29-2)12-20(35-28)31-18-10-6-4-8-14(18)22-23-16(13-30-27(23)33)21-15-9-5-7-11-19(15)32(28)25(21)24(22)31/h4-11,17,20,26,29H,12-13H2,1-3H3,(H,30,33)/t17-,20-,26-,28+/m1/s1/f/h30H InChIKey=HKSZLNNOFSGOKW-PULLEYNNDJ James Malone Staurosporin http://www.ebi.ac.uk/efo/EFO_0001613 Hexadecanoic acid 1-Pentadecanecarboxylic acid A straight-chain saturated fatty acid that has formula C16H32O2. A straight-chain, 16-carbon saturated fatty acid and major component of the oil from palm trees; the first fatty acid produced during lipogenesis, from which longer fatty acids can be produced. Reportedly has detrimental cardiovascular effects when there is insufficient intake of linoleic acid. A straight-chain, sixteen-carbon saturated fatty acid and major component of the oil from palm trees; the first fatty acid produced during lipogenesis, from which longer fatty acids can be produced. Reportedly has detrimental cardiovascular effects when there is insufficient intake of linoleic acid. A straight-chain, sixteen-carbon, saturated long-chain fatty acid. C16H32O2 CCCCCCCCCCCCCCCC(O)=O CH3-[CH2]14-COO(-) CH3-[CH2]14-COOH CHEBI_15756 Hexadecylic acid InChI=1/C16H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16(17)18/h2-15H2,1H3,(H,17,18)/f/h17H InChIKey=IPCSVZSSVZVIGE-HCKMINDGCQ Palmitic acid Palmitinsaeure Pentadecanecarboxylic acid cetylic acid hexadecanoate hexadecanoic acid, ion(1-) hexadecoic acid http://www.ebi.ac.uk/efo/EFO_0001552 n-hexadecanoic acid n-hexadecoic acid palmitate dichloromethane Beilstein:1730800 CH2Cl2 ChEMBL:167785 ChemIDplus:75-09-2 Class imported / merged by efoimporter DCM Dichlormethan Dichloromethane Gmelin:1302 InChI=1S/CH2Cl2/c2-1-3/h1H2 InChIKey=YMWUJEATGCHHMB-UHFFFAOYSA-N KEGG COMPOUND:75-09-2 KEGG COMPOUND:C02271 Methylenchlorid Methylene chloride Methylene dichloride NIST Chemistry WebBook:75-09-2 Patent:US2792435 Patent:US2979541 Patent:US3126419 Reaxys:1730800 UM-BBD:c0233 Wikipedia:Dichloromethane [H]C([H])(Cl)Cl chlorure de methylene dichloromethane methane dichloride methylene bichloride arachidonic acid (5Z,8Z,11Z,14Z)-5,8,11,14-icosatetraenoic acid (5Z,8Z,11Z,14Z)-Icosatetraenoic acid (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoic acid AA ARA ARACHIDONIC ACID Arachidonic acid Arachidonsaeure Beilstein:1913991 C20H32O2 CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(O)=O ChEMBL:116437 ChemIDplus:506-32-1 CiteXplore:18973997 CiteXplore:2820055 Class imported / merged by efoimporter Gmelin:58972 InChI=1S/C20H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h6-7,9-10,12-13,15-16H,2-5,8,11,14,17-19H2,1H3,(H,21,22)/b7-6-,10-9-,13-12-,16-15- InChIKey=YZXBAPSDXZZRGB-DOFZRALJSA-N KEGG COMPOUND:506-32-1 KEGG COMPOUND:C00219 LIPID MAPS:LMFA01030001 NIST Chemistry WebBook:506-32-1 PDBeChem:ACD all-cis-5,8,11,14-eicosatetraenoic acid cis-5,8,11,14-Eicosatetraenoic acid cis-Delta(5,8,11,14)-eicosatetraenoic acid http://www.ebi.ac.uk/efo/EFO_0001489 2-deoxy-D-glucose 154-17-6 17648 2-Deoxy-D-mannose 2-deoxy-D-arabino-hexopyranose 37648 A deoxy glucose having a hydroxy group replaced by a hydrogen at position 2; an antimetabolite of glucose with antiviral activity, which acts by inhibiting the glycosylation of glycoproteins and glycolipids. Used as an antiherpes agent. A deoxyglucose that has formula C6H12O5. C6H12O5 D-2dGlc D-arabino-2-Deoxyhexose Deoxyglucose InChI=1/C6H12O5/c7-2-1-4(9)6(11)5(10)3-8/h2,4-6,8-11H,1,3H2/t4-,5-,6+/m1/s1 InChIKey=VRYALKFFQXWPIH-PBXRRBTRBQ [H]C([H])(C=O)[C@@]([H])(O)[C@]([H])(O)[C@]([H])(O)CO phenol A member of the phenols that has formula C6H6O. A phenol that has formula C6H6O. Benzenol C6H6O CHEBI_15882 Carbolsaeure Ele Holloway Hydroxybenzene InChI=1/C6H6O/c7-6-4-2-1-3-5-6/h1-5,7H InChIKey=ISWSIDIOOBJBQZ-UHFFFAOYAI James Malone Karbolsaeure Oc1ccccc1 PhOH Phenic acid Phenylic acid acide carbolique acide phenique carbolic acid http://www.ebi.ac.uk/efo/EFO_0002417 methyl (-)-jasmonate 3-oxo-2-(2-pentenyl)cyclopentaneacetic acid methyl ester C13H20O3 CC\\C=C/C[C@@H]1[C@H](CCC1=O)CC(=O)OC Class imported / merged by efoimporter Ele Holloway InChI=1S/C13H20O3/c1-3-4-5-6-11-10(7-8-12(11)14)9-13(15)16-2/h4-5,10-11H,3,6-9H2,1-2H3/b5-4-/t10-,11-/m1/s1 InChIKey=GEWDNTWNSAZUDX-WQMVXFAESA-N James Malone KEGG COMPOUND:1211-29-6 KEGG COMPOUND:C11512 LIPID MAPS:LMFA02020010 Methyl jasmonate http://www.ebi.ac.uk/efo/EFO_0002413 methyl (-)-jasmonate methyl {(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetate atrazine 1912-24-9 2-CHLORO-4-ISOPROPYLAMINO-6-ETHYLAMINO-1,3,5-TRIAZINE 2-chloro-4-ethylamino-6-isopropylamino-s-triazine 20112 6-chloro-N-ethyl-N'-(1-methylethyl)-1,3,5-triazine-2,4-diamine 6-chloro-N-ethyl-N'-(propan-2-yl)-1,3,5-triazine-2,4-diamine 6-chloro-N-ethyl-N'-isopropyl-1,3,5-triazine-2,4-diamine 6-chloro-N-ethyl-N'-isopropyl-1,3,5-triazine-2,4-diamine A chloro-1,3,5-triazine herbicide that has formula C8H14ClN5. C8H14ClN5 C8H14ClN5 CCNc1nc(Cl)nc(NC(C)C)n1 CP25 CP25[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI) HHO.C8 HHO.C8[accessedResource: C8H14ClN5][accessDate: 05-04-2011] HOX3C HOX3C[accessedResource: C8H14ClN5][accessDate: 05-04-2011] HOXC6 HOXC6[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein 3C Homeobox Protein 3C[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein C6 Homeobox Protein C6[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein C8 Homeobox Protein C8[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein CP25 Homeobox Protein CP25[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein HHO.C8 Homeobox Protein HHO.C8[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein HOXC6 Homeobox Protein HOXC6[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein Hox-3C Homeobox Protein Hox-3C[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox Protein Hox-C6 Homeobox Protein Hox-C6[accessedResource: C8H14ClN5][accessDate: 05-04-2011] Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development. Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H14ClN5][accessDate: 05-04-2011] InChI=1/C8H14ClN5/c1-4-10-7-12-6(9)13-8(14-7)11-5(2)3/h5H,4H2,1-3H3,(H2,10,11,12,13,14)/f/h10-11H InChIKey=MXWJVTOOROXGIU-PZWAIHAUCQ nicotinic acid 3-Pyridinecarboxylic acid 3-Pyridylcarboxylic acid 3-carboxypyridine Beilstein:109591 C6H5NO2 ChEMBL:116656 ChemIDplus:59-67-6 CiteXplore:12563315 CiteXplore:12789870 CiteXplore:15037193 CiteXplore:15183629 CiteXplore:15205990 CiteXplore:15311728 CiteXplore:15627518 CiteXplore:16018787 CiteXplore:16172771 CiteXplore:16400392 CiteXplore:16449845 CiteXplore:16767301 CiteXplore:16877271 CiteXplore:16945375 CiteXplore:18037924 CiteXplore:18993152 CiteXplore:18996527 CiteXplore:19369827 CiteXplore:19592242 CiteXplore:19678716 CiteXplore:19779335 CiteXplore:21632263 CiteXplore:22116693 CiteXplore:22155410 CiteXplore:22366213 CiteXplore:22458880 Class imported / merged by efoimporter DrugBank:DB00627 Gmelin:3340 HMDB:HMDB01488 InChI=1S/C6H5NO2/c8-6(9)5-2-1-3-7-4-5/h1-4H,(H,8,9) InChIKey=PVNIIMVLHYAWGP-UHFFFAOYSA-N KEGG COMPOUND:59-67-6 KEGG COMPOUND:C00253 KEGG DRUG:D00049 MetaCyc:NIACINE NICOTINIC ACID NIST Chemistry WebBook:59-67-6 Niacin Nicotinic acid Nikotinsaeure OC(=O)c1cccnc1 P.P. factor PDBeChem:NIO PP factor Reaxys:109591 Wikipedia:Niacin acide nicotinique acido nicotinico acidum nicotinicum anti-pellagra vitamin beta-pyridinecarboxylic acid m-pyridinecarboxylic acid nicotinic acid pellagra preventive factor pyridine-3-carboxylic acid pyridine-beta-carboxylic acid vitamin B3 biotin sn-glycerol 3-phosphate (2R)-2,3-dihydroxypropyl dihydrogen phosphate (R)-glycerol 1-phosphate Beilstein:1723975 C3H9O6P ChEMBL:795270 CiteXplore:1694860 Class imported / merged by efoimporter D-(glycerol 1-phosphate) Glycerol-3-phosphate Glycerophosphoric acid InChI=1S/C3H9O6P/c4-1-3(5)2-9-10(6,7)8/h3-5H,1-2H2,(H2,6,7,8)/t3-/m1/s1 InChIKey=AWUCVROLDVIAJX-GSVOUGTGSA-N KEGG COMPOUND:C00093 L-(glycerol 3-phosphate) OC[C@@H](O)COP(O)(O)=O PDBeChem:G3P Phosphorsaeure-mono-((R)-2,3-dihydroxy-propylester) Reaxys:1723975 SN-GLYCEROL-3-PHOSPHATE phosphoric acid mono-((R)-2,3-dihydroxy-propyl) ester sn-Glycerol 3-phosphate sn-Gro-1-P sn-glycerol 3-(dihydrogen phosphate) phosphatidylethanolamine (3-Phosphatidyl)-ethanolamine (3-Phosphatidyl)ethanolamine 1,2-diacyl-sn-glycero-3-phosphoethanolamine 1-Acyl-2-acyl-sn-glycero-3-phosphoethanolamine C7H12NO8PR2 Cephalin CiteXplore:10540156 CiteXplore:3196084 CiteXplore:7980848 KEGG COMPOUND:C00350 LIPID MAPS:LMGP02010000 NCCOP(O)(=O)OCC(COC([*])=O)OC([*])=O O-(1-beta-Acyl-2-acyl-sn-glycero-3-phospho)ethanolamine PDBeChem:PTY Phosphatidylethanolamine phosphatidyl(amino)ethanols phosphatidylethanolamines true cholesterol (3beta)-cholest-5-en-3-ol 22401 2401 57-88-5 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase[accessedResource: C27H46O][accessDate: 05-04-2011] A cholestanoid that has formula C27H46O. C27H46O C27H46O CYP8B1 CYP8B1[accessedResource: C27H46O][accessDate: 05-04-2011] CYPVIIIB1 CYPVIIIB1[accessedResource: C27H46O][accessDate: 05-04-2011] Cholest-5-en-3-ol (3beta)- Cholest-5-en-3-ol (3beta)-[accessedResource: MSH:D002784][accessDate: 05-04-2011] Cholest-5-en-3beta-ol Cholesterin Cytochrome P450 8B1 Cytochrome P450 8B1[accessedResource: C27H46O][accessDate: 05-04-2011] Cytochrome P450 CYP8B1 Cytochrome P450 CYP8B1[accessedResource: C27H46O][accessDate: 05-04-2011] Cytochrome P450 Family 8 Subfamily B Polypeptide 1 Cytochrome P450 Family 8 Subfamily B Polypeptide 1[accessedResource: C27H46O][accessDate: 05-04-2011] Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1 Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1[accessedResource: C27H46O][accessDate: 05-04-2011] Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI) Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)[accessedResource: C27H46O][accessDate: 05-04-2011] Epicholesterol Epicholesterol[accessedResource: MSH:D002784][accessDate: 05-04-2011] InChI=1/C27H46O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9,18-19,21-25,28H,6-8,10-17H2,1-5H3/t19-,21+,22+,23-,24+,25+,26+,27-/m1/s1 InChIKey=HVYWMOMLDIMFJA-DPAQBDIFBB MSH:D002784 Steroid 12-Alpha-Hydroxylase Steroid 12-Alpha-Hydroxylase[accessedResource: C27H46O][accessDate: 05-04-2011] Sterol 12 Alpha Hydroxylase Sterol 12 Alpha Hydroxylase[accessedResource: C27H46O][accessDate: 05-04-2011] The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.[accessedResource: MSH:D002784][accessDate: 05-04-2011] Tomasz Adamusiak [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C true ethanol 1-hydroxyethane A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in alcoholic beverages. (PubChem) Pharmacology: Alcohol produces injury to cells by dehydration and precipitation of the cytoplasm or protoplasm. This accounts for its bacteriocidal and antifungal action. When alcohol is injected in close proximity to nerve tissues, it produces neuritis and nerve degeneration (neurolysis). Ninety to 98% of ethanol that enters the body is completely oxidized. Ethanol is also used as a cosolvent to dissolve many insoluble drugs and to serve as a mild sedative in some medicinal formulations. Mechanism of action: The sedative effects of ethanol are mediated through binding to GABA receptors and glycine receptors (alpha 1 and alpha 2 subunits). In its role as an anti-infective, ethanol acts as an osmolyte or dehydrating agent that disrupts the osmotic balance across cell membranes. Drug type: Approved. Small Molecule. Drug category: Anti-Infective Agents, Local. Central Nervous System Depressants. Disinfectants. Solvents A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in alcoholic beverages. (PubChem) Pharmacology: Alcohol produces injury to cells by dehydration and precipitation of the cytoplasm or protoplasm. This accounts for its bacteriocidal and antifungal action. When alcohol is injected in close proximity to nerve tissues, it produces neuritis and nerve degeneration (neurolysis). Ninety to 98% of ethanol that enters the body is completely oxidized. Ethanol is also used as a cosolvent to dissolve many insoluble drugs and to serve as a mild sedative in some medicinal formulations. Mechanism of action: The sedative effects of ethanol are mediated through binding to GABA receptors and glycine receptors (alpha 1 and alpha 2 subunits). In its role as an anti-infective, ethanol acts as an osmolyte or dehydrating agent that disrupts the osmotic balance across cell membranes. Drug type: Approved. Small Molecule. Drug category: Anti-Infective Agents, Local. Central Nervous System Depressants. Disinfectants. Solvents[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] A member of the ethanols that has formula C2H6O. Absolute Alcohol Absolute Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Absolute Ethanol Absolute Ethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Aethanol Aethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Aethylalkohol Aethylalkohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alcare Hand Degermer Alcare Hand Degermer[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alcohol Alcohol Anhydrous Alcohol Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alcohol, Dehydrated Alcohol, Dehydrated[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alcohol, Diluted Alcohol, Diluted[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alcool Ethylique[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alcool Etilico Alcool Etilico[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Algrain Algrain[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Alkohol Alkohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Aminoethanol Aminoethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] An ethanol that has formula C2H6O. Anhydrol Anhydrol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Beta-Aminoethanol Beta-Aminoethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Beta-Aminoethyl Alcohol Beta-Aminoethyl Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Beta-Ethanolamine Beta-Ethanolamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Beta-Hydroxyethylamine Beta-Hydroxyethylamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] C2H5OH C2H6O CCO Caswell No, 426 Caswell No, 426[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Colamine Colamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Dehydrated Ethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Dehydrated ethanol Denatured Alcohol Denatured Alcohol Cd-10 Denatured Alcohol Cd-10[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Cd-5 Denatured Alcohol Cd-5[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Cd-5a Denatured Alcohol Cd-5a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-1 Denatured Alcohol Sd-13a Denatured Alcohol Sd-13a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-17 Denatured Alcohol Sd-17[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-1[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-23a Denatured Alcohol Sd-23a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-28 Denatured Alcohol Sd-28[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-39b Denatured Alcohol Sd-39b[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-39c Denatured Alcohol Sd-39c[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol Sd-3a Denatured Alcohol Sd-3a[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Denatured Ethanol Denatured Ethanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] ETA ETA[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Envision Conditioner Pdd 9020 Envision Conditioner Pdd 9020[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] EtOH EtOH[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Etanolo Etanolo[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethanol 200 Proof Ethanol 200 Proof[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethanol Absolute Ethanol Absolute Bp Ethanol Absolute Bp[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethanol Absolute[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethanol Anhydrous Ethanol Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethanol Extra Pure Ethanol Extra Pure[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethanol, Silent Spirit Ethanol, Silent Spirit[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethanol, Spirit Ethanol, Spirit[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol Ethyl Alcohol & Water, 10% Ethyl Alcohol & Water, 10%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 20% Ethyl Alcohol & Water, 20%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 30% Ethyl Alcohol & Water, 30%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 40% Ethyl Alcohol & Water, 40%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 5% Ethyl Alcohol & Water, 5%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 50% Ethyl Alcohol & Water, 50%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 70% Ethyl Alcohol & Water, 70%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 80% Ethyl Alcohol & Water, 80%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 95% Ethyl Alcohol & Water, 95%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol & Water, 96% Ethyl Alcohol & Water, 96%[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol Anhydrous Ethyl Alcohol Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol, Anhydrous Ethyl Alcohol, Anhydrous[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol, Denatured Ethyl Alcohol, Denatured[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Hydrate Ethyl Hydrate[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethyl Hydroxide Ethyl Hydroxide[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethylol Ethylol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Ethylolamine Ethylolamine[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Glycinol Glycinol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] HSDB 531 HSDB 531[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] InChI=1/C2H6O/c1-2-3/h3H,2H2,1H3 InChIKey=LFQSCWFLJHTTHZ-UHFFFAOYAB James Malone Jaysol Jaysol S Jaysol S[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Jaysol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Methylcarbinol Methylcarbinol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] NIFSTD:nlx_chem_20090205 Pyro Pyro[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Reagent Alcohol Reagent Alcohol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Synasol Synasol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Tecsol Tecsol C Tecsol C[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Tecsol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Thanol Thanol[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Thiofaco M-50 Thiofaco M-50[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] Tomasz Adamusiak USAF EK-1597 USAF EK-1597[accessedResource: NIFSTD:nlx_chem_20090205][accessDate: 05-04-2011] [CH2Me(OH)] [OEtH] alcohol etilico alcool ethylique etanol http://www.ebi.ac.uk/efo/EFO_0001531 hydroxyethane spiritus vini hydrogen peroxide An inorganic peroxide that has formula H2O2. CHEBI_16240 H(2)O(2) H2O2 HOOH InChI=1/H2O2/c1-2/h1-2H InChIKey=MHAJPDPJQMAIIY-UHFFFAOYAL Oxydol [H]OO[H] [OH(OH)] bis(hydridooxygen)(O--O) dihydrogen dioxide dihydrogen peroxide dihydrogen(peroxide) dioxidane http://www.ebi.ac.uk/efo/EFO_0001553 quercetin 2-(3,4-dihydroxyphenyl)-3,5,7-trihydroxy-4H-chromen-4-one 3,5,7,3',4'-Pentahydroxyflavone A pentahydroxyflavone having the five hydroxy groups placed at the 3-, 3'-, 4'-, 5- and 7-positions. A pentahydroxyflavone that has formula C15H10O7. C15H10O7 CHEBI_16243 InChI=1/C15H10O7/c16-7-4-10(19)12-11(5-7)22-15(14(21)13(12)20)6-1-2-8(17)9(18)3-6/h1-5,16-19,21H InChIKey=REFJWTPEDVJJIY-UHFFFAOYAW Oc1cc(O)c2c(c1)oc(-c1ccc(O)c(O)c1)c(O)c2=O http://www.ebi.ac.uk/efo/EFO_0001600 phospholipid C5H6O8PR3 KEGG COMPOUND:C00865 Phospholipid phospholipid derivative phospholipids true chitosan (1->4)-2-amino-2-deoxy-beta-D-glucan C12H24N2O9.(C6H11NO4)n ChemIDplus:9012-76-4 Chitosan Class imported / merged by efoimporter Deacetylchitin InChI=1S/C18H35N3O13/c19-7-12(27)14(5(2-23)30-16(7)29)33-18-9(21)13(28)15(6(3-24)32-18)34-17-8(20)11(26)10(25)4(1-22)31-17/h4-18,22-29H,1-3,19-21H2/t4-,5-,6-,7-,8-,9-,10-,11-,12-,13-,14-,15-,16-,17+,18+/m1/s1 InChIKey=RQFQJYYMBWVMQG-IXDPLRRUSA-N KEGG COMPOUND:C00734 [4)-beta-D-GlcpN(1->]n beta-1,4-Poly-D-glucosamine poliglusam 17beta-hydroxy-5alpha-androstan-3-one 17beta-hydroxyandrostan-3-one 5alpha-Dihydrotestosterone An androgen that has formula C19H30O2. Androstanolone C19H30O2 CHEBI_16330 DIHYDROTESTOSTERONE Dihydrotestosteron InChI=1/C19H30O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h12,14-17,21H,3-11H2,1-2H3/t12-,14-,15-,16-,17-,18-,19-/m0/s1 InChIKey=NVKAWKQGWWIWPM-ABEVXSGRBZ James Malone Stanolone [H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@H](O)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CCC(=O)C2 androstanolona androstanolonum dihydrotestoterone http://www.ebi.ac.uk/efo/EFO_0002007 hyaluronan (C14H21NO12)n 40500 9004-61-9 Hyaluronsaeure [beta-D-glucopyranuronosyl-(1->3)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)]n [beta-N-Acetyl-D-glucosaminyl(1,4)beta-D-glucuronosyl(1,3)]n acide hyaluronique acido hialuronico hyaluronate hyaluronic acid 3-nitropropionic acid 20982 3-NPA 3-nitropropanoic acid 3-nitropropanoic acid 504-88-1 982 Bovinocidin C3 Gene C3 Gene[accessedResource: C3H5NO4][accessDate: 05-04-2011] C3H5NO4 C3H5NO4 C3[accessedResource: C3H5NO4][accessDate: 05-04-2011] Complement Component 3 Gene Complement Component 3 Gene[accessedResource: C3H5NO4][accessDate: 05-04-2011] InChI=1/C3H5NO4/c5-3(6)1-2-4(7)8/h1-2H2,(H,5,6)/f/h5H InChIKey=WBLZUCOIBUDNBV-JSWHHWTPCG OC(=O)CCN(=O)=O The 3-nitro derivative of propanoic acid. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H5NO4][accessDate: 05-04-2011] beta-Nitropropanoate beta-Nitropropanoic acid beta-Nitropropionic acid cholic acid (3alpha,5beta,7alpha,12alpha)-3,7,12-trihydroxycholan-24-oic acid (3alpha,5beta,7alpha,8alpha,12alpha,14beta,17alpha)-3,7,12-trihydroxycholan-24-oic acid 3alpha,7alpha,12alpha-Trihydroxy-5beta-cholanic acid 3alpha,7alpha,12alpha-trihydroxy-5beta-cholan-24-oic acid 81-25-4 A steroidal bile acid derived from cholesterol. C24H40O5 Cholsaeure InChI=1/C24H40O5/c1-13(4-7-21(28)29)16-5-6-17-22-18(12-20(27)24(16,17)3)23(2)9-8-15(25)10-14(23)11-19(22)26/h13-20,22,25-27H,4-12H2,1-3H3,(H,28,29)/t13-,14+,15-,16-,17+,18+,19-,20+,22+,23+,24-/m1/s1/f/h28H InChIKey=BHQCQFFYRZLCQQ-NQEZNTFZDD [H][C@@]12C[C@H](O)CC[C@]1(C)[C@@]1([H])C[C@H](O)[C@]3(C)[C@]([H])(CC[C@@]3([H])[C@]1([H])[C@H](O)C2)[C@H](C)CCC(O)=O cis-aconitate(3-) (1Z)-prop-1-ene-1,2,3-tricarboxylate An aconitate(3-) that has formula C6H3O6. C6H3O6 InChI=1/C6H6O6/c7-4(8)1-3(6(11)12)2-5(9)10/h1H,2H2,(H,7,8)(H,9,10)(H,11,12)/p-3/b3-1-/fC6H3O6/q-3 InChIKey=GTZCVFVGUGFEME-JWZZRJPODW [O-]C(=O)C\\C(=C\\C([O-])=O)C([O-])=O cis-aconitate indole-3-acetic acid (indol-3-yl)acetic acid 1H-indol-3-ylacetic acid 2-(indol-3-yl)ethanoic acid 3-Indolylessigsaeure Beilstein:143358 C10H9NO2 ChEMBL:234915 ChemIDplus:87-51-4 Class imported / merged by efoimporter Gmelin:143197 IAA IES InChI=1S/C10H9NO2/c12-10(13)5-7-6-11-9-4-2-1-3-8(7)9/h1-4,6,11H,5H2,(H,12,13) InChIKey=SEOVTRFCIGRIMH-UHFFFAOYSA-N Indole-3-acetic acid Indoleacetic acid James Malone KEGG COMPOUND:87-51-4 KEGG COMPOUND:C00954 NIST Chemistry WebBook:87-51-4 OC(=O)Cc1c[nH]c2ccccc12 heteroauxin http://www.ebi.ac.uk/efo/EFO_0001556 lipopolysaccharide CHEBI_16412 LPS Natural compounds consisting of a trisaccharide repeating unit (two heptose units and octulosonic acid) with oligosaccharide side chains and 3-hydroxytetradecanoic acid units (they are a major constituent of the cell walls of Gram-negative bacteria). http://www.ebi.ac.uk/efo/EFO_0001564 lipopolysaccharides alanine 2-Aminopropionic acid 2-aminopropanoic acid 302-72-7 Alanin An alpha-amino acid that has formula C3H7NO2. C3H7NO2 CC(N)C(O)=O InChI=1/C3H7NO2/c1-2(4)3(5)6/h2H,4H2,1H3,(H,5,6)/f/h5H InChIKey=QNAYBMKLOCPYGJ-JSWHHWTPCH alanina 17beta-estradiol (17beta)-estra-1,3,5(10)-triene-3,17-diol 17beta oestradiol 17beta-estra-1,3,5(10)-triene-3,17-diol 17beta-estradiol 17beta-oestradiol Beilstein:1914275 C18H24O2 ChEMBL:127626 ChemIDplus:50-28-2 CiteXplore:10438974 CiteXplore:3621671 Class imported / merged by efoimporter ESTRADIOL Estradiol Estradiol-17beta Gmelin:290805 InChI=1S/C18H24O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h3,5,10,14-17,19-20H,2,4,6-9H2,1H3/t14-,15-,16+,17+,18+/m1/s1 InChIKey=VOXZDWNPVJITMN-ZBRFXRBCSA-N KEGG COMPOUND:50-28-2 KEGG COMPOUND:C00951 LIPID MAPS:LMST02010001 NIST Chemistry WebBook:50-28-2 PDBeChem:EST Wikipedia:Estradiol [H][C@]12CC[C@]3(C)[C@@H](O)CC[C@@]3([H])[C@]1([H])CCc1cc(O)ccc21 beta-Estradiol cis-estradiol estra-1,3,5(10)-triene-3,17beta-diol http://www.ebi.ac.uk/efo/EFO_0001468 naphthalene Beilstein:1421310 C10H8 ChEMBL:116789 ChemIDplus:91-20-3 Class imported / merged by efoimporter Gmelin:3347 InChI=1S/C10H8/c1-2-6-10-8-4-3-7-9(10)5-1/h1-8H InChIKey=UFWIBTONFRDIAS-UHFFFAOYSA-N KEGG COMPOUND:91-20-3 KEGG COMPOUND:C00829 NAPHTHALENE NIST Chemistry WebBook:91-20-3 Naphthalen Naphthalene Naphthalin PDBeChem:NPY UM-BBD:c0333 c1ccc2ccccc2c1 naftaleno naftalina naphtalene naphtaline naphthalene trans-zeatin (2E)-2-methyl-4-(9H-purin-6-ylamino)but-2-en-1-ol (2E)-2-methyl-4-(9H-purin-6-ylamino)but-2-en-1-ol (E)-2-methyl-4-(1H-purin-6-ylamino)-2-buten-1-ol (E)-2-methyl-4-(1H-purin-6-ylamino)but-2-en-1-ol (E)-2-methyl-4-(purin-6-ylamino)-2-buten-1-ol (E)-zeatin 1637-39-4 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H13N5O][accessDate: 05-04-2011] 20631 40631 A zeatin that has formula C10H13N5O. Aclatonium Aclatonium[accessedResource: C10H13N5O][accessDate: 05-04-2011] Aconitum ferox Root C10H13N5O C10H13N5O C\\C(CO)=C/CNc1ncnc2[nH]cnc12 Choline Lactate, Acetate Choline Lactate, Acetate[accessedResource: C10H13N5O][accessDate: 05-04-2011] Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl- Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H13N5O][accessDate: 05-04-2011] InChI=1/C10H13N5O/c1-7(4-16)2-3-11-9-8-10(13-5-12-8)15-6-14-9/h2,5-6,16H,3-4H2,1H3,(H2,11,12,13,14,15)/b7-2+/f/h11,13H InChIKey=UZKQTCBAMSWPJD-IQJMLFGSDN N6-(4-Hydroxyisopentenyl)adenine Zeatin D-serine (2R)-2-amino-3-hydroxypropanoic acid (R)-2-Amino-3-hydroxy-propionic acid (R)-2-amino-3-hydroxypropanoic acid A serine that has formula C3H7NO3. C3H7NO3 CHEBI_16523 D-Serin Ele Holloway InChI=1/C3H7NO3/c4-2(1-5)3(6)7/h2,5H,1,4H2,(H,6,7)/t2-/m1/s1/f/h6H InChIKey=MTCFGRXMJLQNBG-QKGSACKDDH N[C@H](CO)C(O)=O The R-enantiomer of serine. Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002727 carbon dioxide 124-38-9 27028 7028 A carbon oxide that has formula CO2. CO(2) CO2 InChI=1/CO2/c2-1-3 InChIKey=CURLTUGMZLYLDI-UHFFFAOYAO O=C=O [CO2] carbonic anhydride dioxidocarbon dioxomethane 20-hydroxyecdysone (22R)-2beta,3beta,14alpha,20,22,25-hexahydroxy-5beta-cholest-7-en-6-one (2beta,3beta,5beta,22R)-2,3,14,20,22,25-hexahydroxycholest-7-en-6-one 20-OH ecdysone 20388 40388 5289-74-7 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase[accessedResource: C27H44O7][accessDate: 05-04-2011] A 20-hydroxy steroid that has formula C27H44O7. C27H44O7 C27H44O7 CYP8B1 CYP8B1[accessedResource: C27H44O7][accessDate: 05-04-2011] CYPVIIIB1 CYPVIIIB1[accessedResource: C27H44O7][accessDate: 05-04-2011] Cytochrome P450 8B1 Cytochrome P450 8B1[accessedResource: C27H44O7][accessDate: 05-04-2011] Cytochrome P450 CYP8B1 Cytochrome P450 CYP8B1[accessedResource: C27H44O7][accessDate: 05-04-2011] Cytochrome P450 Family 8 Subfamily B Polypeptide 1 Cytochrome P450 Family 8 Subfamily B Polypeptide 1[accessedResource: C27H44O7][accessDate: 05-04-2011] Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1 Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1[accessedResource: C27H44O7][accessDate: 05-04-2011] Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI) Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)[accessedResource: C27H44O7][accessDate: 05-04-2011] InChI=1/C27H44O7/c1-23(2,32)9-8-22(31)26(5,33)21-7-11-27(34)16-12-18(28)17-13-19(29)20(30)14-24(17,3)15(16)6-10-25(21,27)4/h12,15,17,19-22,29-34H,6-11,13-14H2,1-5H3/t15-,17-,19+,20-,21-,22+,24+,25+,26+,27+/m0/s1 InChIKey=NKDFYOWSKOHCCO-YPVLXUMRBN Steroid 12-Alpha-Hydroxylase Steroid 12-Alpha-Hydroxylase[accessedResource: C27H44O7][accessDate: 05-04-2011] Sterol 12 Alpha Hydroxylase Sterol 12 Alpha Hydroxylase[accessedResource: C27H44O7][accessDate: 05-04-2011] [H][C@]12CC[C@]3(C)[C@]([H])(CC[C@@]3(O)C1=CC(=O)[C@]1([H])C[C@@H](O)[C@@H](O)C[C@]21C)[C@@](C)(O)[C@H](O)CCC(C)(C)O ecdysterone; 20E trichloroethylene 1,1,2-trichloroethene 1,1,2-trichloroethene 1,1-dichloro-2-chloroethylene 1382 21382 79-01-6 A chloroethene that has formula C2HCl3. C2 Mouse C2 Mouse[accessedResource: C2HCl3][accessDate: 05-04-2011] C2HCl3 C2HCl3 C2[accessedResource: C2HCl3][accessDate: 05-04-2011] ClC=C(Cl)Cl InChI=1/C2HCl3/c3-1-2(4)5/h1H InChIKey=XSTXAVWGXDQKEL-UHFFFAOYAI Narcogen TCE Trichloraethen Trichloraethylen acetylene trichloride ethinyl trichloride ethylene trichloride trichloraethylenum pro narcosi trichlorethylene trichloroethene trichloroethylenum triciene allyl alcohol 2-Propen-1-ol 2-Propenol 2-Propenyl alcohol 3-Hydroxypropene Allyl alcohol C3H6O ChEMBL:494802 ChemIDplus:107-18-6 Class imported / merged by efoimporter InChI=1S/C3H6O/c1-2-3-4/h2,4H,1,3H2 InChIKey=XXROGKLTLUQVRX-UHFFFAOYSA-N KEGG COMPOUND:107-18-6 KEGG COMPOUND:C02001 OCC=C Vinyl carbinol Vinylcarbinol Wikipedia:Allyl_Alcohol prop-2-en-1-ol ecdysone (22R)-2beta,3beta,14,22,25-pentahydroxy-5beta-cholest-7-en-6-one (22R)-2beta,3beta,14alpha,22,25-pentahydroxy-5beta-cholest-7-en-6-one 3604-87-3 An ecdysteroid that has formula C27H44O6. C27H44O6 InChI=1/C27H44O6/c1-15(20(28)8-9-24(2,3)32)16-7-11-27(33)18-12-21(29)19-13-22(30)23(31)14-25(19,4)17(18)6-10-26(16,27)5/h12,15-17,19-20,22-23,28,30-33H,6-11,13-14H2,1-5H3/t15-,16+,17-,19-,20+,22+,23-,25+,26+,27+/m0/s1 InChIKey=UPEZCKBFRMILAV-JMZLNJERBR [H][C@@]1(CC[C@@]2(O)C3=CC(=O)[C@]4([H])C[C@@H](O)[C@@H](O)C[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@H](O)CCC(C)(C)O benzene 135 39242 71-43-2 A six-carbon aromatic compound in which each carbon atom donates one of its two 2p electrons into a delocalised pi system. A toxic, flammable liquid byproduct of coal distillation, it is used as an industrial solvent. Benzene is a carcinogen that also damages bone marrow and the central nervous system. Benzen Benzine Benzol Bicarburet of hydrogen C6 Vertebra C6 Vertebra[accessedResource: C6H6][accessDate: 05-04-2011] C6H6 C6H6 Coal naphtha InChI=1/C6H6/c1-2-4-6-5-3-1/h1-6H InChIKey=UHOVQNZJYSORNB-UHFFFAOYAH Mineral naphtha Phene Pyrobenzol Pyrobenzole The sixth of the seven cervical vertebrae. The sixth of the seven cervical vertebrae.[accessedResource: C6H6][accessDate: 05-04-2011] [6]annulene benzene benzole c1ccccc1 cyclohexatriene phenyl hydride cinnamaldehyde (3E)-3-phenylprop-2-enal 104-55-2 3-phenylacrylaldehyde 3-phenylprop-2-enal A member of the cinnamaldehydes that has formula C9H8O. C9H8O InChI=1/C9H8O/c10-8-4-7-9-5-2-1-3-6-9/h1-8H/b7-4+ InChIKey=KJPRLNWUNMBNBZ-QPJJXVBHBH O=C\\C=C\\c1ccccc1 The E (trans) stereoisomer of cinnamaldehyde, the parent of the class of cinnamaldehydes. creatinine 1-Methylglycocyamidine 1-methylglycocyamidine 2-imino-1-methylimidazolidin-4-one C4H7N3O CN1CC(=O)NC1=N ChemIDplus:60-27-5 Creatinine InChI=1S/C4H7N3O/c1-7-2-3(8)6-4(7)5/h2H2,1H3,(H2,5,6,8) InChIKey=DDRJAANPRJIHGJ-UHFFFAOYSA-N KEGG COMPOUND:60-27-5 KEGG COMPOUND:C00791 Kreatinin NIST Chemistry WebBook:60-27-5 creatinina true 2,4-dichlorophenol 120-83-2 2,4-dichlorophenol 20439 439 A dichlorophenol that has formula C6H4Cl2O. C6 Vertebra C6 Vertebra[accessedResource: C6H4Cl2O][accessDate: 05-04-2011] C6H4Cl2O C6H4Cl2O DCP InChI=1/C6H4Cl2O/c7-4-1-2-6(9)5(8)3-4/h1-3,9H InChIKey=HFZWRUODUSTPEG-UHFFFAOYAU Oc1ccc(Cl)cc1Cl The sixth of the seven cervical vertebrae. The sixth of the seven cervical vertebrae.[accessedResource: C6H4Cl2O][accessDate: 05-04-2011] orotic acid 2,6-dihydroxypyrimidine-4-carboxylic acid 2,6-dioxo-1,2,3,6-tetrahydropyrimidine-4-carboxylic acid 25814 5814 65-86-1 A pyrimidinemonocarboxylic acid that has formula C5H4N2O4. C5 Gene C5 Gene[accessedResource: C5H4N2O4][accessDate: 05-04-2011] C5H4N2O4 C5H4N2O4 C5[accessedResource: C5H4N2O4][accessDate: 05-04-2011] Complement Component 5 Gene Complement Component 5 Gene[accessedResource: C5H4N2O4][accessDate: 05-04-2011] Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release. Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release.[accessedResource: C5H4N2O4][accessDate: 05-04-2011] InChI=1/C5H4N2O4/c8-3-1-2(4(9)10)6-5(11)7-3/h1H,(H,9,10)(H2,6,7,8,11)/f/h6-7,9H InChIKey=PXQPEWDEAKTCGB-BZTMKREHCW OC(=O)c1cc(=O)[nH]c(=O)[nH]1 Orotsaeure Uracil-6-carboxylic acid scopolamine (-)-hyoscine (-)-scopolamine (1R,2R,4S,5S,7S)-9-methyl-3-oxa-9-azatricyclo[3.3.1.0(2,4)]non-7-yl (2S)-3-hydroxy-2-phenylpropanoate (1S,3S,5R,6R,7S)-6,7-epoxytropan-3-yl (2S)-3-hydroxy-2-phenylpropanoate 6,7-Epoxytropine tropate 6-beta,7-beta-Epoxy-3-alpha-tropanyl S-(-)-tropate C17H21NO4 CN1[C@H]2C[C@@H](C[C@@H]1[C@H]1O[C@@H]21)OC(=O)[C@H](CO)c1ccccc1 ChEMBL:679689 Class imported / merged by efoimporter DrugBank:DB00747 Hyoscine InChI=1S/C17H21NO4/c1-18-13-7-11(8-14(18)16-15(13)22-16)21-17(20)12(9-19)10-5-3-2-4-6-10/h2-6,11-16,19H,7-9H2,1H3/t11-,12-,13-,14+,15-,16+/m1/s1 InChIKey=STECJAGHUSJQJN-FWXGHANASA-N KEGG COMPOUND:51-34-3 KEGG COMPOUND:C01851 KEGG DRUG:D00138 Scopolamine Transderm-Scop alpha-(Hydroxymethyl)benzeneacetic acid 9-methyl-3-oxa-9-azatricyclo(3.3.1.0(2.4))non-7-yl ester scopine (-)-tropate scopolamine methionine 2-Amino-4-(methylthio)butyric acid 2-amino-4-(methylsulfanyl)butanoic acid 2-amino-4-(methylthio)butanoic acid Beilstein:636185 C5H11NO2S CSCCC(N)C(O)=O ChemIDplus:59-51-8 CiteXplore:16702333 Class imported / merged by efoimporter DL-Methionine Gmelin:3117 Hmet InChI=1S/C5H11NO2S/c1-9-3-2-4(6)5(7)8/h4H,2-3,6H2,1H3,(H,7,8) InChIKey=FFEARJCKVFRZRR-UHFFFAOYSA-N KEGG COMPOUND:C01733 KEGG DRUG:D04983 M Met Methionin Methionine NIST Chemistry WebBook:59-51-8 Racemethionine Reaxys:636185 UM-BBD:c0094 Wikipedia:Methionine alpha-amino-gamma-methylmercaptobutyric acid methionine metionina dehydroepiandrosterone sulfate (3-beta)-3-(Sulfooxy)androst-5-en-17-one 17-Ketoandrost-5-en-3beta-yl sulfate 17-oxoandrost-5-en-3beta-yl hydrogen sulfate 17-oxoandrost-5-en-3beta-yl hydrogen sulphate 3-O-Sulfodehydroepiandrosterone 3beta-Hydroxyandrost-5-en-17-one 3-sulfate 3beta-hydroxyandrost-5-en-17-one 3-sulfate Androst-5-en-17-on-3beta-yl sulfuric acid C19H28O5S ChemIDplus:651-48-9 CiteXplore:18307294 CiteXplore:9661815 DHEA sulfate DHEA-S DHEAS Dehydroepiandrosterone 3-sulfate Dehydroepiandrosterone monosulfate Dehydroepiandrosterone sulfate Dehydroepiandrosterone sulphate Dehydroisoandrosterone sulfate Dehydroisoandrosterone-3-sulfate InChI=1S/C19H28O5S/c1-18-9-7-13(24-25(21,22)23)11-12(18)3-4-14-15-5-6-17(20)19(15,2)10-8-16(14)18/h3,13-16H,4-11H2,1-2H3,(H,21,22,23)/t13-,14-,15-,16-,18-,19-/m0/s1 InChIKey=CZWCKYRVOZZJNM-USOAJAOKSA-N KEGG COMPOUND:C04555 LIPID MAPS:LMST05020010 Prasterone sulfate [H][C@@]12CC=C3C[C@H](CC[C@]3(C)[C@@]1([H])CC[C@]1(C)C(=O)CC[C@@]21[H])OS(O)(=O)=O true formaldehyde An aldehyde that has formula CH2O. CH2O CHEBI_16842 FORMALIN Formaldehyd InChI=1/CH2O/c1-2/h1H2 InChIKey=WSFSSNUMVMOOMR-UHFFFAOYAT Methanal Methylene oxide Oxomethane Oxomethylene The simplest aldehyde. [H]C([H])=O http://www.ebi.ac.uk/efo/EFO_0001538 glutathione 5-L-Glutamyl-L-cysteinylglycine A tripeptide compound consisting of glutamic acid attached via its side chain to the N-terminus of cysteinylglycine. C10H17N3O6S GSH GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals. GSH Glutathione is a tripeptide. It contains an unusual peptide linkage between the amine group of cysteine and the carboxyl group of the glutamate side chain. It is an antioxidant that protects cells from toxins such as free radicals.[accessedResource: NIFSTD:nlx_mol_20090201][accessDate: 05-04-2011] InChI=1/C10H17N3O6S/c11-5(10(18)19)1-2-7(14)13-6(4-20)9(17)12-3-8(15)16/h5-6,20H,1-4,11H2,(H,12,17)(H,13,14)(H,15,16)(H,18,19)/t5-,6-/m0/s1/f/h12-13,15,18H InChIKey=RWSXRVCMGQZWBV-VSCBVDDUDG L-gamma-glutamyl-L-cysteinylglycine N-(N-gamma-L-Glutamyl-L-cysteinyl)glycine NIFSTD:nlx_mol_20090201 N[C@@H](CCC(=O)N[C@@H](CS)C(=O)NCC(O)=O)C(O)=O Reduced glutathione Tomasz Adamusiak gamma-L-Glutamyl-L-cysteinyl-glycine http://www.ebi.ac.uk/efo/EFO_0001547 D-mannitol (2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexaol (2R,3R,4R,5R)-hexane-1,2,3,4,5,6-hexol A mannitol that has formula C6H14O6. C6H14O6 CHEBI_16899 InChI=1/C6H14O6/c7-1-3(9)5(11)6(12)4(10)2-8/h3-12H,1-2H2/t3-,4-,5-,6-/m1/s1 InChIKey=FBPFZTCFMRRESA-KVTDHHQDBH James Malone OC[C@@H](O)[C@@H](O)[C@H](O)[C@H](O)CO Osmitrol The D-enantiomer of mannitol. http://www.ebi.ac.uk/efo/EFO_0001525 mannitol salicylic acid 2-HYDROXYBENZOIC ACID 2-carboxyphenol 2-hydroxybenzoic acid Beilstein:774890 C7H6O3 ChEMBL:101362 ChemIDplus:69-72-7 CiteXplore:1650428 CiteXplore:3425858 Class imported / merged by efoimporter DrugBank:DB00936 Gmelin:3418 InChI=1S/C7H6O3/c8-6-4-2-1-3-5(6)7(9)10/h1-4,8H,(H,9,10) InChIKey=YGSDEFSMJLZEOE-UHFFFAOYSA-N James Malone KEGG COMPOUND:69-72-7 KEGG COMPOUND:C00805 KEGG DRUG:D00097 NIST Chemistry WebBook:69-72-7 OC(=O)c1ccccc1O PDBeChem:SAL Reaxys:774890 Salicylic acid Wikipedia:Salicylic_Acid http://www.ebi.ac.uk/efo/EFO_0001608 o-Hydroxybenzoic acid o-carboxyphenol o-hydroxybenzoic acid creatine (N-methylcarbamimidamido)acetic acid (alpha-methylguanido)acetic acid A derivative of glycine having methyl and amidino groups attached to the nitrogen. A glycine derivative that has formula C4H9N3O2. C4H9N3O2 CHEBI_16919 CN(CC(O)=O)C(N)=N Creatin InChI=1/C4H9N3O2/c1-7(4(5)6)2-3(8)9/h2H2,1H3,(H3,5,6)(H,8,9)/f/h5,8H,6H2 InChIKey=CVSVTCORWBXHQV-FVNFBLHMCI Kreatin Methylglycocyamine N-(aminoiminomethyl)-N-methylglycine N-[(E)-AMINO(IMINO)METHYL]-N-METHYLGLYCINE N-[amino(imino)methyl]-N-methylglycine N-amidinosarcosine N-methyl-N-guanylglycine alpha-Methylguanidino acetic acid http://www.ebi.ac.uk/efo/EFO_0001514 benzene-1,2,4-triol 20930 40930 533-73-3 C6 Vertebra C6 Vertebra[accessedResource: C6H6O3][accessDate: 05-04-2011] C6H6O3 The sixth of the seven cervical vertebrae. The sixth of the seven cervical vertebrae.[accessedResource: C6H6O3][accessDate: 05-04-2011] benzene-1,2,4-triol beta-D-galactosyl-1,4-N-acetyl-beta-D-glucosaminyl glycopeptide bilirubin 1,10,19,22,23,24-hexahydro-2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinylbiline-8,12-dipropionic acid 2,17-diethenyl-1,10,19,22,23,24-hexahydro-3,7,13,18-tetramethyl-1,19-dioxo-21H-biline-8,12-dipropanoic acid 2,7,13,17-tetramethyl-1,19-dioxo-3,18-divinyl-1,10,19,22,23,24-hexahydro-21H-biline-8,12-dipropanoic acid 8,12-bis(2-carboxyethyl)-2,7,13,17-tetramethyl-3,18-divinylbiladiene-ac-1,19(21H,24H)-dione Beilstein:74376 Bilirubin C33H36N4O6 CC1=C(C=C)\\C(NC1=O)=C\\c1[nH]c(Cc2[nH]c(\\C=C3NC(=O)C(C=C)=C/3C)c(C)c2CCC(O)=O)c(CCC(O)=O)c1C ChemIDplus:635-65-4 Gmelin:411033 InChI=1S/C33H36N4O6/c1-7-20-19(6)32(42)37-27(20)14-25-18(5)23(10-12-31(40)41)29(35-25)15-28-22(9-11-30(38)39)17(4)24(34-28)13-26-16(3)21(8-2)33(43)36-26/h7-8,13-14,34-35H,1-2,9-12,15H2,3-6H3,(H,36,43)(H,37,42)(H,38,39)(H,40,41)/b26-13-,27-14- InChIKey=BPYKTIZUTYGOLE-IFADSCNNSA-N KEGG COMPOUND:635-65-4 KEGG COMPOUND:C00486 bilirubin IXalpha true DNA (Deoxyribonucleotide)m (Deoxyribonucleotide)n (Deoxyribonucleotide)n+m A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine) (MSH). A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine) (MSH).[accessedResource: NIFSTD:sao454034570][accessDate: 05-04-2011] DNA is a chemical compound which has a high molecular weight, linear polymers and is composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contains the genetic information of organisms. DNAn DNAn+1 DNS Deoxyribonucleic acid[accessedResource: NIFSTD:sao454034570][accessDate: 05-04-2011] Desoxyribonukleinsaeure High molecular weight, linear polymers, composed of nucleotides containing deoxyribose and linked by phosphodiester bonds; DNA contain the genetic information of organisms. James Malone Jie Zheng MO_945 NIFSTD:sao454034570 Tomasz Adamusiak deoxyribonucleic acid deoxyribonucleic acids desoxyribose nucleic acid http://mged.sourceforge.net/ontologies/MGEDOntology.owl#DNA http://www.ebi.ac.uk/efo/EFO_0001453 thymus nucleic acid cholesterol ester C28H45O2R Cholesterol esterified at the 3-hydroxy group. [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@H](CC[C@]4(C)[C@@]3([H])CC[C@]12C)OC([*])=O)[C@H](C)CCCC(C)C cholesterol esters progesterone (S)-4-Pregnene-3,20-dione (S)-Pregn-4-en-3,20-dione (S)-Progesterone 17alpha-progesterone 4-Pregnene-3,20-dione A 3-oxo Delta(4)-steroid that has formula C21H30O2. A steroid hormone that has formula C21H30O2. Agolutin Akrolutin C21H30O2 CHEBI_17026 Crinone Delta(4)-pregnene-3,20-dione Gelbkoerperhormon InChI=1/C21H30O2/c1-13(22)17-6-7-18-16-5-4-14-12-15(23)8-10-20(14,2)19(16)9-11-21(17,18)3/h12,16-19H,4-11H2,1-3H3/t16-,17+,18-,19-,20-,21+/m0/s1 InChIKey=RJKFOVLPORLFTN-LEKSSAKUBC Progesteron [H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@H](CC[C@@]21[H])C(C)=O corpus luteum hormone http://www.ebi.ac.uk/efo/EFO_0001598 luteohormone pregn-4-ene-3,20-dione chitin (1->4)-2-acetamido-2-deoxy-beta-D-glucan (C8H13NO5)n A N-acylglucosamine that has formula (C8H13NO5)n. An aminoglycan that has formula (C8H13NO5)n. CHEBI_17029 InChI=1/C24H41N3O16/c1-7(31)25-13-18(36)20(11(5-29)39-22(13)38)42-24-15(27-9(3)33)19(37)21(12(6-30)41-24)43-23-14(26-8(2)32)17(35)16(34)10(4-28)40-23/h10-24,28-30,34-38H,4-6H2,1-3H3,(H,25,31)(H,26,32)(H,27,33)/t10-,11-,12-,13-,14-,15-,16-,17-,18-,19-,20-,21-,22-,23+,24+/m1/s1/f/h25-27H InChIKey=WZZVUHWLNMNWLW-IRGKDUGGDK [1,4-(N-Acetyl-beta-D-glucosaminyl)]n [4)-beta-D-GlcpNAc(1->]n beta-1,4-Poly-N-acetyl-D-glucosamine http://www.ebi.ac.uk/efo/EFO_0001502 glycoprotein Glycoprotein Glykoprotein Glykoproteine KEGG COMPOUND:C00326 [glycoprotein] glicoproteina glicoproteinas glycoproteine glycoproteines glycoproteins true methyl glyoxal 1,2-propanedione 1628 2-Ketopropionaldehyde 2-oxopropanal 2-oxopropanal 2-oxopropionaldehyde 21628 78-98-8 A 2-oxo aldehyde that has formula C3H4O2. A 2-oxoaldehyde derived from propanal. C3 Gene C3 Gene[accessedResource: C3H4O2][accessDate: 05-04-2011] C3H4O2 C3H4O2 C3[accessedResource: C3H4O2][accessDate: 05-04-2011] CH3COCHO Complement Component 3 Gene Complement Component 3 Gene[accessedResource: C3H4O2][accessDate: 05-04-2011] InChI=1/C3H4O2/c1-3(5)2-4/h2H,1H3 InChIKey=AIJULSRZWUXGPQ-UHFFFAOYAZ Pyruvaldehyde Pyruvic aldehyde This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H4O2][accessDate: 05-04-2011] [H]C(=O)C(C)=O acetylformaldehyde acetylformyl alpha-ketopropionaldehyde methylglyoxal 17alpha-estradiol 17alpha-Estradiol C18H24O2 ChEMBL:149018 ChemIDplus:2698044 ChemIDplus:57-91-0 Class imported / merged by efoimporter Estradiol-17alpha Gmelin:2190991 InChI=1S/C18H24O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h3,5,10,14-17,19-20H,2,4,6-9H2,1H3/t14-,15-,16+,17-,18+/m1/s1 InChIKey=VOXZDWNPVJITMN-SFFUCWETSA-N KEGG COMPOUND:57-91-0 KEGG COMPOUND:C02537 LIPID MAPS:LMST02010029 NIST Chemistry WebBook:57-91-0 [H][C@]12CC[C@]3(C)[C@H](O)CC[C@@]3([H])[C@]1([H])CCc1cc(O)ccc21 alpha-estradiol estra-1,3,5(10)-triene-3,17alpha-diol estra-1,3,5(10)trien-3,17alpha-diol http://www.ebi.ac.uk/efo/EFO_0001467 L-proline (-)-(S)-proline (-)-2-pyrrolidinecarboxylic acid (-)-proline (2S)-pyrrolidine-2-carboxylic acid (S)-2-carboxypyrrolidine (S)-2-pyrrolidinecarboxylic acid (S)-pyrrolidine-2-carboxylic acid 2-Pyrrolidinecarboxylic acid Beilstein:80810 C5H9NO2 ChemIDplus:147-85-3 CiteXplore:11076505 CiteXplore:12770004 CiteXplore:14975886 CiteXplore:15576824 CiteXplore:15838615 CiteXplore:15894682 CiteXplore:15973048 CiteXplore:16033917 CiteXplore:16190672 CiteXplore:16501220 CiteXplore:16656443 CiteXplore:16657874 CiteXplore:16668324 CiteXplore:17127472 CiteXplore:17608428 CiteXplore:18551589 CiteXplore:18802692 CiteXplore:18973300 CiteXplore:19215998 CiteXplore:19580280 CiteXplore:19656302 CiteXplore:19688381 CiteXplore:19811425 CiteXplore:22139509 CiteXplore:22201772 CiteXplore:22451406 CiteXplore:22475019 CiteXplore:22482728 CiteXplore:22491679 Class imported / merged by efoimporter DrugBank:DB00172 Gmelin:50152 HMDB:HMDB00162 InChI=1S/C5H9NO2/c7-5(8)4-2-1-3-6-4/h4,6H,1-3H2,(H,7,8)/t4-/m0/s1 InChIKey=ONIBWKKTOPOVIA-BYPYZUCNSA-N KEGG COMPOUND:147-85-3 KEGG COMPOUND:C00148 KEGG DRUG:D00035 L-(-)-proline L-Prolin L-Proline L-alpha-pyrrolidinecarboxylic acid L-proline L-pyrrolidine-2-carboxylic acid MetaCyc:PRO NIST Chemistry WebBook:147-85-3 OC(=O)[C@@H]1CCCN1 P PDBeChem:PRO PROLINE Reaxys:80810 Wikipedia:L-proline prolina proline prolinum myrcene 123-35-3 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H16][accessDate: 05-04-2011] 25692 5692 7-methyl-3-methylene-1,6-octadiene 7-methyl-3-methyleneocta-1,6-diene 7-methyl-3-methyleneocta-1,6-diene 7-methyl-3-methylideneocta-1,6-diene A monoterpene that has formula C10H16. Aclatonium Aclatonium[accessedResource: C10H16][accessDate: 05-04-2011] Aconitum ferox Root C10H16 C10H16 CC(C)=CCCC(=C)C=C Choline Lactate, Acetate Choline Lactate, Acetate[accessedResource: C10H16][accessDate: 05-04-2011] Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl- Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H16][accessDate: 05-04-2011] InChI=1/C10H16/c1-5-10(4)8-6-7-9(2)3/h5,7H,1,4,6,8H2,2-3H3 InChIKey=UAHWPYUMFXYFJY-UHFFFAOYAT beta-myrcene homocysteine 2-Amino-4-mercaptobutyric acid 2-amino-4-sulfanylbutanoic acid C4H9NO2S Hcy Homocysteine InChI=1S/C4H9NO2S/c5-3(1-2-8)4(6)7/h3,8H,1-2,5H2,(H,6,7) InChIKey=FFFHZYDWPBMWHY-UHFFFAOYSA-N KEGG COMPOUND:C05330 NC(CCS)C(O)=O true glucose C6H12O6 CHEBI_17234 Glc Glukose MSH:D005947 gluco-hexose http://www.ebi.ac.uk/efo/EFO_0001545 true mono(2-ethylhexyl) phthalate (2-ethylhexyl) hydrogen phthalate 1,2-benzenedicarboxylic acid, mono(2-ethylhexyl) ester 2-(2-ethylhexyloxycarbonyl)benzoic acid 2-([(2-ethylhexyl)oxy]carbonyl)benzoic acid 2-Ethylhexyl phthalate 2-ethylhexyl hydrogen phthalate Beilstein:3206630 C16H22O4 CCCCC(CC)COC(=O)c1ccccc1C(O)=O ChEMBL:1308009 ChemIDplus:4376-20-9 Class imported / merged by efoimporter InChI=1S/C16H22O4/c1-3-5-8-12(4-2)11-20-16(19)14-10-7-6-9-13(14)15(17)18/h6-7,9-10,12H,3-5,8,11H2,1-2H3,(H,17,18) InChIKey=DJDSLBVSSOQSLW-UHFFFAOYSA-N KEGG COMPOUND:C03343 MEHP NIST Chemistry WebBook:4376-20-9 http://www.ebi.ac.uk/efo/EFO_0001574 mono(2-ethylhexyl)phthalate mono-(2-ethylhexyl)phthalate mono-2-ethylhexyl phthalate monoethylhexyl phthalate phthalic acid, 2-ethylhexyl ester carbon monoxide A carbon oxide that has formula CO. CHEBI_17245 InChI=1/CO/c1-2 InChIKey=UGFAIRIUMAVXCW-UHFFFAOYAT James Malone [CO] carbon monooxide carbon(II) oxide http://www.ebi.ac.uk/efo/EFO_0001500 morphine (5R,6S,9R,13S,14R)-4,5-epoxy-N-methyl-7-morphinen-3,6-diol (5alpha,6alpha)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol (5alpha,6alpha)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol (7R,7AS,12BS)-3-METHYL-2,3,4,4A,7,7A-HEXAHYDRO-1H-4,12-METHANO[1]BENZOFURO[3,2-E]ISOQUINOLINE-7,9-DIOL 17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol A highly potent opiate analgesic psychoactive drug, morphine acts directly on the central nervous system (CNS) to relieve pain. Morphine has a high potential for addiction; tolerance and both physical and psychological dependence develop rapidly. A morphinane alkaloid that has formula C17H19NO3. C17H19NO3 CHEBI_17303 Ele Holloway InChI=1/C17H19NO3/c1-18-7-6-17-10-3-5-13(20)16(17)21-15-12(19)4-2-9(14(15)17)8-11(10)18/h2-5,10-11,13,16,19-20H,6-8H2,1H3/t10-,11+,13-,16-,17-/m0/s1 InChIKey=BQJCRHHNABKAKU-KBQPJGBKBH James Malone Morphia Morphin [H][C@]12C=C[C@H](O)[C@@H]3Oc4c(O)ccc5C[C@H]1N(C)CC[C@@]23c45 http://www.ebi.ac.uk/efo/EFO_0002414 morfina morphinum morphium phytol (2E,7R,11R)-3,7,11,15-tetramethyl-2-hexadecen-1-ol (2E,7R,11R)-3,7,11,15-tetramethylhexadec-2-en-1-ol C20H40O CC(C)CCC[C@@H](C)CCC[C@@H](C)CCC\\C(C)=C\\CO ChEMBL:1158875 Class imported / merged by efoimporter InChI=1S/C20H40O/c1-17(2)9-6-10-18(3)11-7-12-19(4)13-8-14-20(5)15-16-21/h15,17-19,21H,6-14,16H2,1-5H3/b20-15+/t18-,19-/m1/s1 InChIKey=BOTWFXYSPFMFNR-PYDDKJGSSA-N KEGG COMPOUND:150-86-7 KEGG COMPOUND:7541-49-3 KEGG COMPOUND:C01389 LIPID MAPS:LMPR0104010002 Phytol trans-Phytol testosterone (8alpha,10alpha,13alpha,14beta,17alpha)-17-hydroxyandrost-4-en-3-one 17 beta Hydroxy 4 Androsten 3 one 17 beta Hydroxy 4 Androsten 3 one[accessedResource: MSH:D013739][accessDate: 05-04-2011] 17 beta Hydroxy 8 alpha 4 Androsten 3 one 17 beta Hydroxy 8 alpha 4 Androsten 3 one[accessedResource: MSH:D013739][accessDate: 05-04-2011] 17-beta-Hydroxy-4-Androsten-3-one 17-beta-Hydroxy-4-Androsten-3-one[accessedResource: MSH:D013739][accessDate: 05-04-2011] 17-beta-Hydroxy-8 alpha-4-Androsten-3-one 17-beta-Hydroxy-8 alpha-4-Androsten-3-one[accessedResource: MSH:D013739][accessDate: 05-04-2011] 17beta-hydroxy-4-androsten-3-one 17beta-hydroxyandrost-4-en-3-one 4-androsten-17beta-ol-3-one 8 Isotestosterone 8 Isotestosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] 8-Isotestosterone 8-Isotestosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL. A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.[accessedResource: MSH:D013739][accessDate: 05-04-2011] An androgen that has formula C19H28O2. An androstanoid having 17beta-hydroxy and 3-oxo groups, together with unsaturation at C-4-C-5. AndroGel AndroGel[accessedResource: MSH:D013739][accessDate: 05-04-2011] Androderm Androderm[accessedResource: MSH:D013739][accessDate: 05-04-2011] Andropatch Andropatch[accessedResource: MSH:D013739][accessDate: 05-04-2011] Androst-4-en-17beta-ol-3-one Androst-4-en-17beta-ol-3-one[accessedResource: MSH:D013739][accessDate: 05-04-2011] Androtop Androtop[accessedResource: MSH:D013739][accessDate: 05-04-2011] AstraZeneca Brand of Testosterone AstraZeneca Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Auxilium Pharmaceuticals Inc. Brand of Testosterone Auxilium Pharmaceuticals Inc. Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Bartor Brand of Testosterone Bartor Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] C19H28O2 CEPA Brand of Testosterone CEPA Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] CHEBI_17347 Dr. Kade Brand of Testosterone Dr. Kade Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Faulding Brand of Testosterone Faulding Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Ferring Brand of Testosterone Ferring Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] GlaxoSmithKline Brand of Testosterone GlaxoSmithKline Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Hauck Brand of Testosterone Hauck Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Histerone Histerone[accessedResource: MSH:D013739][accessDate: 05-04-2011] InChI=1/C19H28O2/c1-18-9-7-13(20)11-12(18)3-4-14-15-5-6-17(21)19(15,2)10-8-16(14)18/h11,14-17,21H,3-10H2,1-2H3/t14-,15-,16-,17-,18-,19-/m0/s1 InChIKey=MUMGGOZAMZWBJJ-DYKIIFRCBC James Malone MSH:D013739 Ortho Brand of Testosterone Ortho Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Paladin Brand of Testosterone Paladin Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Pasadena Brand of Testosterone Pasadena Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Schering Brand of Testosterone Schering Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] SmithKline Beecham Brand of Testosterone SmithKline Beecham Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Solvay Brand of Testosterone Solvay Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Sterotate Sterotate[accessedResource: MSH:D013739][accessDate: 05-04-2011] Sustanon Sustanon[accessedResource: MSH:D013739][accessDate: 05-04-2011] Testim Testim[accessedResource: MSH:D013739][accessDate: 05-04-2011] Testoderm Testoderm[accessedResource: MSH:D013739][accessDate: 05-04-2011] Testolin Testolin[accessedResource: MSH:D013739][accessDate: 05-04-2011] Testopel Testopel[accessedResource: MSH:D013739][accessDate: 05-04-2011] Testosteron Testosterone Sulfate Testosterone Sulfate[accessedResource: MSH:D013739][accessDate: 05-04-2011] Tomasz Adamusiak Ulmer Brand of Testosterone Ulmer Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Unimed Brand of Testosterone Unimed Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation. Unlike testosterone, which is a flat molecule, its 8-isomer has a folded conformation.[accessedResource: MSH:D013739][accessDate: 05-04-2011] Watson Brand of Testosterone Watson Brand of Testosterone[accessedResource: MSH:D013739][accessDate: 05-04-2011] [H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@@H](O)CC[C@@]21[H] http://www.ebi.ac.uk/efo/EFO_0001676 testosterona testosteronum 2-acetylaminofluorene 2-AAF 2-Acetamidofluorene 2-FAA 2-acetamidofluorene Jon Ison N-2-Fluorenylacetamide N-fluoren-2-ylacetamide http://www.ebi.ac.uk/efo/EFO_0003190 Beilstein:2807677 "Beilstein Registry Number" 2-AAF 2-FAA KEGG COMPOUND:53-96-3 "CAS Registry Number" CHEBI_40645 CHEBI_19431 N-2-Fluorenylacetamide ChemIDplus:53-96-3 "CAS Registry Number" CHEBI_981 2-Acetamidofluorene N-fluoren-2-ylacetamide KEGG COMPOUND:C02778 "KEGG COMPOUND" Reaxys:2807677 "Reaxys Registry Number" NIST Chemistry WebBook:53-96-3 "CAS Registry Number" "An ortho-fused polycyclic arene that consists of 9H-fluorene bearing an acetamido substituent at position 2." [] CHEBI_11494 Wikipedia:2-Acetylaminofluorene "Wikipedia" N-fluoren-2-ylacetamide N-2-Fluorenylacetamide 2-AAF 2-FAA 2-Acetamidofluorene quinoline 10-Deacetyltaxol 1798 21798 91-22-5 A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability. A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability.[accessedResource: C9H7N][accessDate: 05-04-2011] Activation of Membrane Attack Complex Activation of Membrane Attack Complex[accessedResource: C9H7N][accessDate: 05-04-2011] An analog of paclitaxel with antineoplastic activity. 10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis. C9H7N C9H7N Chinolin InChI=1/C9H7N/c1-2-6-9-8(4-1)5-3-7-10-9/h1-7H InChIKey=SMWDFEZZVXVKRB-UHFFFAOYAU The simplest member of the quinoline class of compounds, comprising a benzene ring ortho fused to C-2 and C-3 of a pyridine ring. benzenepropanoic acid, beta-(benzoylamino)-alpha-hydroxy-, 12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester, (2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alphaR*,betaS*),11alpha,12alpha,12aalpha,12balpha))- benzo[b]pyridine c1ccc2ncccc2c1 quinoline 3',5'-cyclic AMP (2R,4aR,6R,7R,7aS)-6-(6-amino-9H-purin-9-yl)tetrahydro-4H-furo[3,2-d][1,3,2]dioxaphosphinine-2,7-diol 2-oxide 3',5'-cyclic purine nucleotide having having adenine as the nucleobase. A 3',5'-cyclic purine nucleotide that has formula C10H12N5O6P. ADENOSINE-3',5'-CYCLIC-MONOPHOSPHATE Adenosine 3',5'-phosphate C10H12N5O6P CHEBI_17489 Cyclic AMP Cyclic adenylic acid InChI=1/C10H12N5O6P/c11-8-5-9(13-2-12-8)15(3-14-5)10-6(16)7-4(20-10)1-19-22(17,18)21-7/h2-4,6-7,10,16H,1H2,(H,17,18)(H2,11,12,13)/t4-,6-,7-,10-/m1/s1/f/h17H,11H2 InChIKey=IVOMOUWHDPKRLL-BJEHYBLCDS Nc1ncnc2n(cnc12)[C@@H]1O[C@@H]2COP(O)(=O)O[C@H]2[C@H]1O adenosine 3',5'-(hydrogen phosphate) cAMP http://www.ebi.ac.uk/efo/EFO_0001471 L-cysteine (2R)-2-amino-3-mercaptopropanoic acid (2R)-2-amino-3-sulfanylpropanoic acid (R)-2-amino-3-mercaptopropanoic acid Beilstein:1721408 C C3H7NO2S CYSTEINE ChEMBL:166213 ChemIDplus:52-90-4 CiteXplore:13761469 Class imported / merged by efoimporter Cys E920 FREE CYSTEINE Gmelin:49991 InChI=1S/C3H7NO2S/c4-2(1-7)3(5)6/h2,7H,1,4H2,(H,5,6)/t2-/m0/s1 InChIKey=XUJNEKJLAYXESH-REOHCLBHSA-N KEGG COMPOUND:52-90-4 KEGG COMPOUND:C00097 L-2-Amino-3-mercaptopropionic acid L-Cystein L-Cysteine L-Zystein L-cysteine NIST Chemistry WebBook:52-90-4 N[C@@H](CS)C(O)=O PDBeChem:CYS Reaxys:1721408 Wikipedia:Cysteine http://www.ebi.ac.uk/efo/EFO_0001516 nitrate 14797-55-8 24217 4217 A nitrogen oxoanion that has formula NO3. InChI=1/NO3/c2-1(3)4/q-1 InChIKey=NHNBFGGVMKEFGY-UHFFFAOYAI NITRATE ION NO3 [NO3](-) [O-]N(=O)=O nitrate nitrate(1-) trioxidonitrate(1-) trioxonitrate(1-) trioxonitrate(V) sphingomyelin C24H49N2O6PR CCCCCCCCCCCCC\\C=C\\[C@@H](O)[C@H](COP(O)(=O)OCC[N+](C)(C)C)NC([*])=O CiteXplore:3196084 KEGG COMPOUND:C00550 N-acyl-4-sphingenyl-1-O-phosphorylcholines Sphingomyelin ceramide phosphocholine sphingomyelins true cortisol (11beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione 11beta,17,21-trihydroxypregn-4-ene-3,20-dione 11beta,17alpha,21-trihydroxy-4-pregnene-3,20-dione 11beta-hydrocortisone 17-hydroxycorticosterone 4-pregnen-11beta,17alpha,21-triol-3,20-dione 50-23-7 C21H30O5 Cortisol is a corticosteroid hormone or glucocorticoid produced by zona fasciculata of the adrenal cortex, which is a part of the adrenal gland. It is usually referred to as the "stress hormone" as it is involved in response to stress and anxiety, controlled by corticotropin-releasing hormone (CRH). It increases blood pressure and blood sugar, and reduces immune responses Hydrocortisone InChI=1/C21H30O5/c1-19-7-5-13(23)9-12(19)3-4-14-15-6-8-21(26,17(25)11-22)20(15,2)10-16(24)18(14)19/h9,14-16,18,22,24,26H,3-8,10-11H2,1-2H3/t14-,15-,16-,18+,19-,20-,21-/m0/s1 InChIKey=JYGXADMDTFJGBT-VWUMJDOOBO Kendall's compound F Reichstein's substance M [H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])[C@@H](O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO hidrocortisona hydrocortisonum chloramphenicol 2,2-dichloro-N-[(1R,2R)-2-hydroxy-1-(hydroxymethyl)-2-(4-nitrophenyl)ethyl]acetamide A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and an alcohol function. A dichloro-substituted acetamide containing a nitrobenzene ring, an amide bond and two alcohol functions. C11H12Cl2N2O5 CHEBI_17698 Chloramex Chlorocid Chlorocol Chloromycetin D-(-)-2,2-dichloro-N-(beta-hydroxy-alpha-(hydroxymethyl)-p-nitrophenylethyl)acetamide D-(-)-threo-1-p-nitrophenyl-2-dichloroacetylamino-1,3-propanediol Ele Holloway Fenicol Globenicol Halomycetin InChI=1/C11H12Cl2N2O5/c12-10(13)11(18)14-8(5-16)9(17)6-1-3-7(4-2-6)15(19)20/h1-4,8-10,16-17H,5H2,(H,14,18)/t8-,9-/m1/s1/f/h14H InChIKey=WIIZWVCIJKGZOK-TUYINDPHDP James Malone OC[C@@H](NC(=O)C(Cl)Cl)[C@H](O)c1ccc(cc1)N(=O)=O Oleomycetin Sificetina chloramphenicolum cloramfenicol http://www.ebi.ac.uk/efo/EFO_0002403 laevomycetinum levomicetina levomycetin N,N-dimethylformamide C3H7NO ChEMBL:105404 ChemIDplus:68-12-2 CiteXplore:19608215 CiteXplore:3824392 Class imported / merged by efoimporter DMF Dimethylformamide InChI=1S/C3H7NO/c1-4(2)3-5/h3H,1-2H3 InChIKey=ZMXDDKWLCZADIW-UHFFFAOYSA-N KEGG COMPOUND:68-12-2 KEGG COMPOUND:C03134 N,N-Dimethylformamide N,N-Dimethylmethanamide N,N-dimethylformamide N-Formyldimethylamine NIST Chemistry WebBook:68-12-2 PDBeChem:DMF Reaxys:605365 Wikipedia:Dimethylformamide [H]C(=O)N(C)C diethylhexyl phthalate 1,2-Benzenedicarboxylic acid bis(2-ethylhexyl) ester 2-Ethylhexyl phthalate A phthalate ester that has formula C24H38O4. Bis(2-ethylhexyl) o-phthalate Bis(2-ethylhexyl)phthalate Bis(ethylhexyl) phthalate C24H38O4 CCCCC(CC)COC(=O)c1ccccc1C(=O)OCC(CC)CCCC CHEBI_17747 DEHP Di(2-ethylhexyl) o-phthalate Di(2-ethylhexyl)orthophthalate Di(2-ethylhexyl)phthalate Di-sec-octyl phthalate Dioctyl phthalate InChI=1/C24H38O4/c1-5-9-13-19(7-3)17-27-23(25)21-15-11-12-16-22(21)24(26)28-18-20(8-4)14-10-6-2/h11-12,15-16,19-20H,5-10,13-14,17-18H2,1-4H3 InChIKey=BJQHLKABXJIVAM-UHFFFAOYAB Octyl phthalate Phthalic acid bis(2-ethylhexyl) ester Phthalic acid di(2-ethylhexyl) ester The bis(2-ethylhexyl) ester of 1,2-benzenedicarboxylic acid. The bis(2-ethylhexyl) ester of benzene-1,2-dicarboxylic acid. bis(2-ethylhexyl) 1,2-benzenedicarboxylate bis(2-ethylhexyl) benzene-1,2-dicarboxylate bis(2-ethylhexyl) phthalate di-iso-Octyl phthalate http://www.ebi.ac.uk/efo/EFO_0001521 ceramide C19H36NO3R Cer Ceramide CiteXplore:7542630 KEGG COMPOUND:C00195 LIPID MAPS:LMSP02 N-acylated sphingoid Wikipedia:Ceramide ceramides true methanol CH3OH CH4O CHEBI_17790 CO InChI=1/CH4O/c1-2/h2H,1H3 InChIKey=OKKJLVBELUTLKV-UHFFFAOYAX James Malone MeOH Methyl alcohol Methylalkohol The simplest aliphatic alcohol, comprising a methyl and an alcohol group. carbinol http://www.ebi.ac.uk/efo/EFO_0001672 wood alcohol wood naphtha wood spirit calcitriol (1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol (1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol (1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol (1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol 1,25-DHCC 1alpha,25(OH)2D3 1alpha,25-dihydroxycholecalciferol 1alpha,25-dihydroxyvitamin D3 1alpha,25-dihydroxyvitamin D3; 1,25-dihydroxyvitamin D3; 1,25(OH)2D3 22722 32222-06-3 5-{2-[1-(5-HYDROXY-1,5-DIMETHYL-HEXYL)-7A-METHYL-OCTAHYDRO-INDEN-4-YLIDENE]-ETHYLIDENE}-4-METHYLENE-CYCLOHEXANE-1,3-DIOL 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase 7 Alpha-Hydroxy-4-Cholesten-3-One 12-Alpha-Hydroxylase[accessedResource: C27H44O3][accessDate: 05-04-2011] A hydroxycalciol that has formula C27H44O3. C27H44O3 C27H44O3 CYP8B1 CYP8B1[accessedResource: C27H44O3][accessDate: 05-04-2011] CYPVIIIB1 CYPVIIIB1[accessedResource: C27H44O3][accessDate: 05-04-2011] Calcijex Cytochrome P450 8B1 Cytochrome P450 8B1[accessedResource: C27H44O3][accessDate: 05-04-2011] Cytochrome P450 CYP8B1 Cytochrome P450 CYP8B1[accessedResource: C27H44O3][accessDate: 05-04-2011] Cytochrome P450 Family 8 Subfamily B Polypeptide 1 Cytochrome P450 Family 8 Subfamily B Polypeptide 1[accessedResource: C27H44O3][accessDate: 05-04-2011] Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1 Cytochrome P450 Subfamily VIIIB (Sterol 12-Alpha-Hydroxylase) Polypeptide 1[accessedResource: C27H44O3][accessDate: 05-04-2011] Decostriol Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI) Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)[accessedResource: C27H44O3][accessDate: 05-04-2011] InChI=1/C27H44O3/c1-18(8-6-14-26(3,4)30)23-12-13-24-20(9-7-15-27(23,24)5)10-11-21-16-22(28)17-25(29)19(21)2/h10-11,18,22-25,28-30H,2,6-9,12-17H2,1,3-5H3/b20-10+,21-11-/t18-,22-,23-,24+,25+,27-/m1/s1 InChIKey=GMRQFYUYWCNGIN-NKMMMXOEBI Rocaltrol Steroid 12-Alpha-Hydroxylase Steroid 12-Alpha-Hydroxylase[accessedResource: C27H44O3][accessDate: 05-04-2011] Sterol 12 Alpha Hydroxylase Sterol 12 Alpha Hydroxylase[accessedResource: C27H44O3][accessDate: 05-04-2011] [H][C@@]1(CC[C@@]2([H])\\C(CCC[C@]12C)=C\\C=C1\\C[C@@H](O)C[C@H](O)C1=C)[C@H](C)CCCC(C)(C)O calcitriolum gentamicin (1R,2S,3S,4R,6S)-4,6-diamino-3-{[3-deoxy-4-C-methyl-3-(methylamino)-beta-L-arabinopyranosyl]oxy}-2-hydroxycyclohexyl (6x)-2-amino-2,3,4,6,7-pentadeoxy-6-(methylamino)-alpha-D-erythro-heptopyranoside 1403-66-3 3091 34642 4,6-diamino-3-[3-deoxy-4-C-methyl-3-(methylamino)pentopyranosyloxy]-2-hydroxycyclohexyl 2-amino-2,3,4,6,7-pentadeoxy-6-(methylamino)heptopyranoside Any of a group of aminoglycoside antibiotics produced by fermentation of some Micromonospora spp. C21 C21H43N5O7 C21[accessedResource: C21H43N5O7][accessDate: 05-04-2011] DC42 DC42[accessedResource: C21H43N5O7][accessDate: 05-04-2011] FLJ12894 FLJ12894[accessedResource: C21H43N5O7][accessDate: 05-04-2011] Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia. Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H43N5O7][accessDate: 05-04-2011] IRA1 IRA1[accessedResource: C21H43N5O7][accessDate: 05-04-2011] TBL1XR1 wt Allele TBL1XR1 wt Allele[accessedResource: C21H43N5O7][accessDate: 05-04-2011] TBLR1 TBLR1[accessedResource: C21H43N5O7][accessDate: 05-04-2011] Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H43N5O7][accessDate: 05-04-2011] Transducin (Beta)-Like 1X-Linked Receptor 1 Gene Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H43N5O7][accessDate: 05-04-2011] gentamycin gentamycins triglyceride C6H5O6R3 KEGG COMPOUND:C00422 LIPID MAPS:LMGL0301 Triacylglycerol Triglycerid Triglyceride Triglyzerid [*]C(=O)OCC(COC([*])=O)OC([*])=O triacylglycerols triglycerides true hydrochloric acid 20711 711 7647-01-0 A diatomic molecule containing covalently bonded hydrogen and chlorine atoms. Chlorwasserstoff Cl[H] HCl Hydrogenchlorid InChI=1/ClH/h1H InChIKey=VEXZGXHMUGYJMC-UHFFFAOYAT Wasserstoffchlorid [HCl] chlorane chloridohydrogen chlorure d'hydrogene cloruro de hidrogeno hydrogen chloride hydrogen chloride alpha-D-glucose A D-glucopyranose that has formula C6H12O6. C6H12O6 CHEBI_17925 InChI=1/C6H12O6/c7-1-2-3(8)4(9)5(10)6(11)12-2/h2-11H,1H2/t2-,3-,4+,5-,6+/m1/s1 InChIKey=WQZGKKKJIJFFOK-DVKNGEFBBQ OC[C@H]1O[C@H](O)[C@H](O)[C@@H](O)[C@@H]1O alpha-D-glucopyranose alpha-dextrose http://www.ebi.ac.uk/efo/EFO_0001482 asymmetric dimethylarginine (2S)-2-amino-5-(N',N'-dimethylcarbamimidamido)pentanoic acid (2S)-2-amino-5-{[(dimethylamino)(imino)methyl]amino}pentanoic acid 16758 36758 63937-30-4 A methyl-L-arginine having two methyl groups both attached to the primary amino moiety of the guanidino group. A methyl-L-arginine that has formula C8H18N4O2. ADMA C8H18N4O2 C8H18N4O2 CN(C)C(=N)NCCC[C@H](N)C(O)=O CP25 CP25[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI) HHO.C8 HHO.C8[accessedResource: C8H18N4O2][accessDate: 05-04-2011] HOX3C HOX3C[accessedResource: C8H18N4O2][accessDate: 05-04-2011] HOXC6 HOXC6[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein 3C Homeobox Protein 3C[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein C6 Homeobox Protein C6[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein C8 Homeobox Protein C8[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein CP25 Homeobox Protein CP25[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein HHO.C8 Homeobox Protein HHO.C8[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein HOXC6 Homeobox Protein HOXC6[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein Hox-3C Homeobox Protein Hox-3C[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox Protein Hox-C6 Homeobox Protein Hox-C6[accessedResource: C8H18N4O2][accessDate: 05-04-2011] Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development. Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H18N4O2][accessDate: 05-04-2011] InChI=1/C8H18N4O2/c1-12(2)8(10)11-5-3-4-6(9)7(13)14/h6H,3-5,9H2,1-2H3,(H2,10,11)(H,13,14)/t6-/m0/s1/f/h10-11,13H InChIKey=YDGMGEXADBMOMJ-GNCCJFBBDQ N(5)-((dimethylamino)iminomethyl)-L-ornithine N(5)-(N,N-dimethylcarbamimidoyl)-L-ornithine N(5)-[(dimethylamino)(imino)methyl]-L-ornithine N(G),N(G)-dimethylarginine N(G)-dimethylarginine N(G1),N(G1)-dimethylarginine N(omega),N(omega)-dimethyl-L-arginine N,N-dimethylarginine N5-[(dimethylamino)(imino)methyl]-L-ornithine NG,NG-DIMETHYL-L-ARGININE guanidino-N,N-dimethylarginine puromycin (S)-3'-((2-Amino-3-(4-methoxyphenyl)-1-oxopropyl)amino)-3'-deoxy-N,N-dimethyladenosine 16788 3'-(L-alpha-Amino-p-methoxyhydrocinnamamido)-3'-deoxy-N,N-dimethyladenosine 3'-[[(2S)-2-amino-3-(4-methoxyphenyl)-1-oxopropyl]amino]-3'-deoxy-N,N-diemthyladenosine 3'-deoxy-N,N-dimethyl-3'-(O-methyl-L-tyrosinamido)adenosine 3'-deoxy-N,N-dimethyl-3'-[(O-methyl-L-tyrosyl)amino]adenosine 3'-deoxy-N,N-dimethyl-3'-[(O-methyl-L-tyrosyl)amino]adenosine 36788 53-79-2 9-{3-deoxy-3-[(O-methyl-L-tyrosyl)amino]-beta-D-xylofuranosyl}-N,N-dimethyl-9H-purin-6-amine A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration. A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H29N7O5][accessDate: 05-04-2011] Achromycin An aminonucleoside antibiotic, derived from the Streptomyces alboniger bacterium, that causes premature chain termination during translation taking place in the ribosome. Brassidic Acid Brassidic Acid[accessedResource: C22H29N7O5][accessDate: 05-04-2011] C22:1, n-9 trans C22:1, n-9 trans[accessedResource: C22H29N7O5][accessDate: 05-04-2011] C22H29N7O5 C22H29N7O5 COc1ccc(C[C@H](N)C(=O)N[C@@H]2[C@@H](CO)O[C@H]([C@@H]2O)n2cnc3c(ncnc23)N(C)C)cc1 Fatty Acid 22:1 n-9 trans Fatty Acid 22:1 n-9 trans[accessedResource: C22H29N7O5][accessDate: 05-04-2011] Fatty Acid trans 22:1 n-9 Fatty Acid trans 22:1 n-9[accessedResource: C22H29N7O5][accessDate: 05-04-2011] InChI=1/C22H29N7O5/c1-28(2)19-17-20(25-10-24-19)29(11-26-17)22-18(31)16(15(9-30)34-22)27-21(32)14(23)8-12-4-6-13(33-3)7-5-12/h4-7,10-11,14-16,18,22,30-31H,8-9,23H2,1-3H3,(H,27,32)/t14-,15+,16+,18+,22+/m0/s1/f/h27H InChIKey=RXWNCPJZOCPEPQ-RXOQHODBDL Trans docos-13-enoic Acid Trans docos-13-enoic Acid[accessedResource: C22H29N7O5][accessDate: 05-04-2011] puromicina puromycine puromycinum butyrate 1-butanoate 1-butyrate 1-propanecarboxylate Beilstein:3601060 C4H7O2 CCCC([O-])=O CH3-[CH2]2-COO(-) ChEBI:C00246 ChEBI:c0035 ChemIDplus:461-55-2 CiteXplore:17190852 CiteXplore:7496326 Class imported / merged by efoimporter Gmelin:324289 InChI=1S/C4H8O2/c1-2-3-4(5)6/h2-3H2,1H3,(H,5,6)/p-1 InChIKey=FERIUCNNQQJTOY-UHFFFAOYSA-M MetaCyc:BUTYRIC_ACID Reaxys:3601060 butanate butanoate butanoic acid, ion(1-) butyrate http://www.ebi.ac.uk/efo/EFO_0001496 n-butanoate n-butyrate propanecarboxylate propylformate sucrose 1-alpha-D-Glucopyranosyl-2-beta-D-fructofuranoside A glycosyl glycoside that has formula C12H22O11. C12H22O11 CHEBI_17992 Cane sugar InChI=1/C12H22O11/c13-1-4-6(16)8(18)9(19)11(21-4)23-12(3-15)10(20)7(17)5(2-14)22-12/h4-11,13-20H,1-3H2/t4-,5-,6-,7-,8+,9-,10+,11-,12+/m1/s1 InChIKey=CZMRCDWAGMRECN-UGDNZRGBBE OC[C@H]1O[C@H](O[C@]2(CO)O[C@H](CO)[C@@H](O)[C@@H]2O)[C@H](O)[C@@H](O)[C@@H]1O Saccharose Sacharose beta-D-Fruf-(2<->1)-alpha-D-Glcp beta-D-fructofuranosyl alpha-D-glucopyranoside http://www.ebi.ac.uk/efo/EFO_0001616 sacarosa table sugar L-glutamine (2S)-2,5-diamino-5-oxopentanoic acid (2S)-2-amino-4-carbamoylbutanoic acid (S)-2,5-diamino-5-oxopentanoic acid C5H10N2O3 ChEMBL:185305 ChemIDplus:1723797 ChemIDplus:56-85-9 CiteXplore:11139387 CiteXplore:15204730 CiteXplore:22055478 CiteXplore:22206385 CiteXplore:22451274 CiteXplore:22453904 CiteXplore:22575040 Class imported / merged by efoimporter DrugBank:DB00130 GLUTAMINE Glutamic acid 5-amide Glutamic acid amide Gmelin:3509 HMDB:HMDB00641 InChI=1S/C5H10N2O3/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H2,7,8)(H,9,10)/t3-/m0/s1 InChIKey=ZDXPYRJPNDTMRX-VKHMYHEASA-N KEGG COMPOUND:56-85-9 KEGG COMPOUND:C00064 KEGG DRUG:D00015 L-(+)-glutamine L-2-Aminoglutaramic acid L-2-aminoglutaramic acid L-Glutamin L-Glutamine L-Glutaminsaeure-5-amid L-glutamic acid gamma-amide L-glutamine Levoglutamide MetaCyc:GLN NIST Chemistry WebBook:56-85-9 N[C@@H](CCC(N)=O)C(O)=O PDBeChem:GLN Q Reaxys:1723797 Wikipedia:Glutamine 1-aminocyclopropane-1-carboxylic acid 1-aminocyclopropanecarboxylic acid 1-aminocyclopropanecarboxylic acid 22059-21-8 39577 A alpha-amino acid consisting of cyclopropane having amino and carboxy substituents both at the 1-position. An alpha-amino acid that has formula C4H7NO2. C4H7NO2 C4H7NO2 C4[accessedResource: C4H7NO2][accessDate: 05-04-2011] Complement C4 Complement C4 Measurement[accessedResource: C4H7NO2][accessDate: 05-04-2011] Complement C4[accessedResource: C4H7NO2][accessDate: 05-04-2011] Complement Component-4 Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components. InChI=1/C4H7NO2/c5-4(1-2-4)3(6)7/h1-2,5H2,(H,6,7)/f/h6H InChIKey=PAJPWUMXBYXFCZ-BRMMOCHJCR NC1(CC1)C(O)=O The determination of the amount of complement C4 present in a sample. The determination of the amount of complement C4 present in a sample.[accessedResource: C4H7NO2][accessDate: 05-04-2011] oxamic acid C2H3NO3 ChEMBL:116932 Class imported / merged by efoimporter InChI=1S/C2H3NO3/c3-1(4)2(5)6/h(H2,3,4)(H,5,6) InChIKey=SOWBFZRMHSNYGE-UHFFFAOYSA-N KEGG COMPOUND:471-47-6 KEGG COMPOUND:C01444 NC(=O)C(O)=O Oxalic monoamide Oxamate Oxamic acid amino(oxo)acetic acid http://www.ebi.ac.uk/efo/EFO_0001588 oxamic acid lipid 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed) A generic term for fats and lipoids, the alcohol-ether-soluble constituents of protoplasm, which are insoluble in water. They comprise the fats, fatty oils, essential oils, waxes, phospholipids, glycolipids, sulfolipids, aminolipids, chromolipids (lipochromes), and fatty acids. (Grant & Hackh's Chemical Dictionary, 5th ed)[accessedResource: MSH:D008055][accessDate: 05-04-2011] Lipids Lipids[accessedResource: MSH:D008055][accessDate: 05-04-2011] MSH:D008055 Tomasz Adamusiak true (+)-alpha-tocopherol (2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-TRIMETHYLTRIDECYL]CHROMAN-6-OL (2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol (2R,4'R,8'R)-alpha-tocopherol (R,R,R)-alpha-tocopherol 5,7,8-trimethyltocol An alpha-tocopherol that has formula C29H50O2. C29H50O2 CC(C)CCC[C@@H](C)CCC[C@@H](C)CCC[C@]1(C)CCc2c(C)c(O)c(C)c(C)c2O1 CHEBI_18145 InChI=1/C29H50O2/c1-20(2)12-9-13-21(3)14-10-15-22(4)16-11-18-29(8)19-17-26-25(7)27(30)23(5)24(6)28(26)31-29/h20-22,30H,9-19H2,1-8H3/t21-,22-,29-/m1/s1 InChIKey=GVJHHUAWPYXKBD-IEOSBIPEBS James Malone MSH:D014810 Vitamin E d-alpha-tocopherol http://www.ebi.ac.uk/efo/EFO_0001465 true ethene Aethen Aethylen An alkene that has formula C2H4. C2H4 C=C CH2=CH2 CHEBI_18153 H2C=CH2 InChI=1/C2H4/c1-2/h1-2H2 InChIKey=VGGSQFUCUMXWEO-UHFFFAOYAE James Malone ethylene http://www.ebi.ac.uk/efo/EFO_0001532 polysaccharide Glycan Glycane Glykan Glykane KEGG COMPOUND:C00420 Polysaccharide glycans polisacarido polisacaridos polysaccharides true gamma-tocopherol (2R)-2,7,8-trimethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol (2R)-3,4-dihydro-2,7,8-trimethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol 7,8-dimethyltocol A tocopherol that has formula C28H48O2. C28H48O2 CC(C)CCC[C@@H](C)CCC[C@@H](C)CCC[C@]1(C)CCc2cc(O)c(C)c(C)c2O1 CHEBI_18185 D-gamma-tocopherol Ele Holloway InChI=1/C28H48O2/c1-20(2)11-8-12-21(3)13-9-14-22(4)15-10-17-28(7)18-16-25-19-26(29)23(5)24(6)27(25)30-28/h19-22,29H,8-18H2,1-7H3/t21-,22-,28-/m1/s1 InChIKey=QUEDXNHFTDJVIY-DQCZWYHMBO Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002729 tyrosine 2-Amino-3-(p-hydroxyphenyl)propionic acid 2-amino-3-(4-hydroxyphenyl)propanoic acid 3-(p-Hydroxyphenyl)alanine Beilstein:515881 C9H11NO3 ChemIDplus:55520-40-6 Gmelin:27744 InChI=1S/C9H11NO3/c10-8(9(12)13)5-6-1-3-7(11)4-2-6/h1-4,8,11H,5,10H2,(H,12,13) InChIKey=OUYCCCASQSFEME-UHFFFAOYSA-N KEGG COMPOUND:C01536 NC(Cc1ccc(O)cc1)C(O)=O Tyr Tyrosin Tyrosine tirosina true benzylpenicillin (2S,5R,6R)-3,3-dimethyl-7-oxo-6-(phenylacetamido)-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid 2,2-dimethyl-6beta-(phenylacetamido)penam-3alpha-carboxylic acid 6-(2-phenylacetamido)penicillanic acid Beilstein:44740 Benzylpenicillin C16H18N2O4S ChEMBL:101615 ChemIDplus:61-33-6 CiteXplore:10930630 CiteXplore:11431418 CiteXplore:11906332 CiteXplore:12569987 CiteXplore:12850488 CiteXplore:1384868 CiteXplore:16033609 CiteXplore:1709917 CiteXplore:2083978 CiteXplore:6161899 CiteXplore:7602118 CiteXplore:7716788 Class imported / merged by efoimporter DrugBank:DB01053 Gmelin:781913 InChI=1S/C16H18N2O4S/c1-16(2)12(15(21)22)18-13(20)11(14(18)23-16)17-10(19)8-9-6-4-3-5-7-9/h3-7,11-12,14H,8H2,1-2H3,(H,17,19)(H,21,22)/t11-,12+,14-/m1/s1 InChIKey=JGSARLDLIJGVTE-MBNYWOFBSA-N KEGG COMPOUND:61-33-6 KEGG COMPOUND:C05551 KEGG DRUG:D02336 PDBeChem:PNN PENICILLIN G PG Patent:US3024169 Penicillin G Reaxys:44740 Wikipedia:Penicillin_G [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)Cc1ccccc1)C(O)=O bencilpenicilina benzylpenicillin benzylpenicilline benzylpenicillinic acid benzylpenicillinum free penicillin II selenite(2-) 14124-67-5 A selenium oxoanion that has formula O3Se. InChI=1/H2O3Se/c1-4(2)3/h(H2,1,2,3)/p-2/fO3Se/q-2 InChIKey=MCAHWIHFGHIESP-YDERIHRJCL O3Se Selenit [O-][Se]([O-])=O [SeO3](2-) selenite trioxidoselenate(2-) trioxoselenate(2-) trioxoselenate(IV) isoflavone 3-Phenylchromone 3-phenyl-4H-1-benzopyran-4-one 3-phenyl-4H-chromen-4-one A member of the isoflavones that has formula C15H10O2. An isoflavone that has formula C15H10O2. C15H10O2 CHEBI_18220 InChI=1/C15H10O2/c16-15-12-8-4-5-9-14(12)17-10-13(15)11-6-2-1-3-7-11/h1-10H InChIKey=GOMNOOKGLZYEJT-UHFFFAOYAO Isoflavon O=c1c(coc2ccccc12)-c1ccccc1 http://www.ebi.ac.uk/efo/EFO_0001558 xylose An aldopentose, found in the embryos of most edible plants and used in medicine to test for malabsorption by administration in water to the patient. C5H10O5 CHEBI_18222 InChI=1/C5H10O5/c6-1-3(8)5(10)4(9)2-7/h1,3-5,7-10H,2H2/t3-,4+,5+/m0/s1 InChIKey=PYMYPHUHKUWMLA-VPENINKCBR OC[C@@H](O)[C@H](O)[C@@H](O)C=O Xyl http://www.ebi.ac.uk/efo/EFO_0002681 xylo-pentose dopamine 2-(3,4-Dihydroxyphenyl)ethylamine 2-(3,4-dihydroxyphenyl)ethylamine 3,4-Dihydroxyphenethylamine 3-Hydroxytyramine 4-(2-Aminoethyl)-1,2-benzenediol 4-(2-Aminoethyl)benzene-1,2-diol 4-(2-aminoethyl)-1,2-benzenediol 4-(2-aminoethyl)benzene-1,2-diol 4-(2-aminoethyl)catechol 4-(2-aminoethyl)pyrocatechol C8H11NO2 ChEMBL:104584 ChemIDplus:51-61-6 Class imported / merged by efoimporter Deoxyepinephrine Dopamine DrugBank:DB00988 Hydroxytyramin InChI=1S/C8H11NO2/c9-4-3-6-1-2-7(10)8(11)5-6/h1-2,5,10-11H,3-4,9H2 InChIKey=VYFYYTLLBUKUHU-UHFFFAOYSA-N James Malone KEGG COMPOUND:C03758 KEGG DRUG:D07870 NCCc1ccc(O)c(O)c1 Tomasz Adamusiak Wikipedia:Dopamine dopamina dopamine dopaminum http://www.ebi.ac.uk/efo/EFO_0001526 iron 26Fe An iron group element atom that has formula Fe. An iron group element that has formula Fe. CHEBI_18248 Eisen Ele Holloway InChI=1/Fe InChIKey=XEEYBQQBJWHFJM-UHFFFAOYAG James Malone [Fe] fer ferrum hierro http://www.ebi.ac.uk/efo/EFO_0002410 iron atom true 3,3',5-triiodo-L-thyronine 3,3',5-triiodo-L-thyronine 3,5,3'-Triiodo-L-thyronine 3,5,3'-Triiodothyronine 3,5,3'TRIIODOTHYRONINE 4-(4-hydroxy-3-iodophenoxy)-3,5-diiodo-L-phenylalanine Beilstein:2710227 C15H12I3NO4 ChemIDplus:6893-02-3 CiteXplore:15206581 Class imported / merged by efoimporter DrugBank:DB00279 Ele Holloway InChI=1S/C15H12I3NO4/c16-9-6-8(1-2-13(9)20)23-14-10(17)3-7(4-11(14)18)5-12(19)15(21)22/h1-4,6,12,20H,5,19H2,(H,21,22)/t12-/m0/s1 InChIKey=AUYYCJSJGJYCDS-LBPRGKRZSA-N James Malone KEGG COMPOUND:6893-02-3 KEGG COMPOUND:C02465 L-3,5,3'-Triiodothyronine L-T3 Liothyronine N[C@@H](Cc1cc(I)c(Oc2ccc(O)c(I)c2)c(I)c1)C(O)=O O-(4-hydroxy-3-iodophenyl)-3,5-diiodo-L-tyrosine PDBeChem:T3 T3 Tertroxin Tresitope Triiodothyronine http://www.ebi.ac.uk/efo/EFO_0002395 liothyronine liothyroninum liotironina jasmonic acid (1R,2R)-3-oxo-2-(2Z)-2-penten-ylcyclopentanacetic acid (1R,2R)-3-oxo-2-(pent-2Z-enyl)-cyclopentaneacetic acid 2-{(1R,2R)-3-oxo-2-[(Z)-pent-2-enyl]cyclopentyl}acetate An oxo monocarboxylic acid that has formula C12H18O3. C12H18O3 CC\\C=C/C[C@@H]1[C@H](CCC1=O)CC(O)=O CHEBI_18292 InChI=1/C12H18O3/c1-2-3-4-5-10-9(8-12(14)15)6-7-11(10)13/h3-4,9-10H,2,5-8H2,1H3,(H,14,15)/b4-3-/t9-,10-/m1/s1/f/h14H InChIKey=ZNJFBWYDHIGLCU-JXYCJCKWDR Jasmonate http://www.ebi.ac.uk/efo/EFO_0001560 {(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetic acid 1,4-dithiothreitol (R*,R*)-1,4-dimercapto-2,3-butanediol 03/12/3483 C4H10O2S2 Cleland's reagent DL-threo-1,4-Dimercapto-2,3-butanediol DTT; dithiothreitol Dithiothreitol Dithiotreitol InChI=1/C4H10O2S2/c5-3(1-7)4(6)2-8/h3-8H,1-2H2 InChIKey=VHJLVAABSRFDPM-UHFFFAOYAZ OC(CS)C(O)CS The threo-diastereomer of 1,4-dimercaptobutane-2,3-diol. rac-Dithiothreitol rel-(2R,3R)-1,4-disulfanylbutane-2,3-diol threo-1,4-Dimercapto-2,3-butanediol 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide 1-(5'-Phosphoribosyl)-5-amino-4-imidazolecarboxamide 1-(5'-phosphoribosyl)-5-amino-4-imidazolecarboxamide 5'-Phospho-ribosyl-5-amino-4-imidazole carboxamide 5'-Phosphoribosyl-5-amino-4-imidazolecarboxamide 5'-phospho-ribosyl-5-amino-4-imidazole carboxamide 5'-phosphoribosyl-5-amino-4-imidazolecarboxamide 5-Amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide 5-Aminoimidazole-4-carboxamide ribotide 5-Phosphoribosyl-4-carbamoyl-5-aminoimidazole 5-amino-1-(5-O-phosphono-beta-D-ribofuranosyl)-1H-imidazole-4-carboxamide 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide 5-aminoimidazole-4-carboxamide ribotide 5-phosphoribosyl-4-carbamoyl-5-aminoimidazole AICAR C9H15N4O8P ChEMBL:585185 Class imported / merged by efoimporter InChI=1S/C9H15N4O8P/c10-7-4(8(11)16)12-2-13(7)9-6(15)5(14)3(21-9)1-20-22(17,18)19/h2-3,5-6,9,14-15H,1,10H2,(H2,11,16)(H2,17,18,19)/t3-,5-,6-,9-/m1/s1 InChIKey=NOTGFIUVDGNKRI-UUOKFMHZSA-N KEGG COMPOUND:3031-94-5 KEGG COMPOUND:C04677 NC(=O)c1ncn([C@@H]2O[C@H](COP(O)(O)=O)[C@@H](O)[C@H]2O)c1N sulphur dioxide A sulfur oxide that has formula O2S. CHEBI_18422 InChI=1/O2S/c1-3-2 InChIKey=RAHZWNYVWXNFOC-UHFFFAOYAT O2S O=S=O SO2 Schwefel(IV)-oxid Schwefeldioxid Sulfur dioxide dioxidosulfur http://www.ebi.ac.uk/efo/EFO_0001619 oxosulfane oxide sulfurous anhydride sulfurous oxide 5-fluorouridine 5-Fluorouracil 1beta-D-ribofuranoside C9H11FN2O6 Ele Holloway InChI=1/C9H11FN2O6/c10-3-1-12(9(17)11-7(3)16)8-6(15)5(14)4(2-13)18-8/h1,4-6,8,13-15H,2H2,(H,11,16,17)/t4-,5-,6-,8-/m1/s1/f/h11H InChIKey=FHIDNBAQOFJWCA-OPTMDVTPDF James Malone OC[C@H]1O[C@H]([C@H](O)[C@@H]1O)n1cc(F)c(=O)[nH]c1=O The 5-fluoro derivative of uridine. Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002489 nicotine (RS)-nicotine 3-(1-methylpyrrolidin-2-yl)pyridine A pyrrolidine alkaloid that has formula C10H14N2. C10H14N2 CHEBI_18723 CN1CCCC1c1cccnc1 Ele Holloway InChI=1/C10H14N2/c1-12-7-3-5-10(12)9-4-2-6-11-8-9/h2,4,6,8,10H,3,5,7H2,1H3 InChIKey=SNICXCGAKADSCV-UHFFFAOYAX James Malone Nicotin Nikotin http://www.ebi.ac.uk/efo/EFO_0002415 3-dehydroteasterone (22R,23R)-22,23-dihydroxy-5alpha-campestane-3,6-dione (22R,23R,24S)-22,23-dihydroxy-5alpha-ergostane-3,6-dione 3,6-dioxo-Campestan-22R,23R-diol Beilstein:3630917 C28H46O4 Class imported / merged by efoimporter InChI=1S/C28H46O4/c1-15(2)16(3)25(31)26(32)17(4)20-7-8-21-19-14-24(30)23-13-18(29)9-11-28(23,6)22(19)10-12-27(20,21)5/h15-17,19-23,25-26,31-32H,7-14H2,1-6H3/t16-,17-,19-,20+,21-,22-,23+,25+,26+,27+,28+/m0/s1 InChIKey=SVBMASFUJDIDJC-XFJIFGBKSA-N LIPID MAPS:LMST01030131 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])CC(=O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C 5-azacytidine 4-Amino-1-beta-D-ribofuranosyl-s-triazin-2(1H)-one 4-amino-1-beta-D-ribofuranosyl-1,3,5-triazin-2(1H)-one A N-glycosyl-1,3,5-triazine that has formula C8H12N4O5. Azacitidine C8H12N4O5 CHEBI_2038 InChI=1/C8H12N4O5/c9-7-10-2-12(8(16)11-7)6-5(15)4(14)3(1-13)17-6/h2-6,13-15H,1H2,(H2,9,11,16)/t3-,4-,5-,6-/m1/s1/f/h9H2 InChIKey=NMUSYJAQQFHJEW-QUSQBIOGDY Nc1ncn([C@@H]2O[C@H](CO)[C@@H](O)[C@H]2O)c(=O)n1 http://www.ebi.ac.uk/efo/EFO_0002667 3-dehydro-6-deoxoteasterone (22R,23R)-22,23-dihydroxy-5alpha-campestan-3-one (22R,23R,24S)-22,23-dihydroxy-5alpha-ergostan-3-one (5alpha,22R,23R,24S)-22,23-dihydroxyergostan-3-one 3-oxo-campestan-22R,23R-diol Beilstein:7387822 C28H48O3 CiteXplore:17138693 Class imported / merged by efoimporter InChI=1S/C28H48O3/c1-16(2)17(3)25(30)26(31)18(4)22-9-10-23-21-8-7-19-15-20(29)11-13-27(19,5)24(21)12-14-28(22,23)6/h16-19,21-26,30-31H,7-15H2,1-6H3/t17-,18-,19-,21-,22+,23-,24-,25+,26+,27-,28+/m0/s1 InChIKey=URNVSZVQLKHKDE-WAFXAADMSA-N KEGG COMPOUND:C15800 LIPID MAPS:LMST01030125 [H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@]4(C)[C@]([H])(CC[C@@]34[H])[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C)[C@@]1(C)CCC(=O)C2 6-deoxocastasterone (22R,23R)-5alpha-campestane-2alpha,3alpha,22,23-tetraol Beilstein:5097016 C28H50O4 CiteXplore:14502988 CiteXplore:9927639 Class imported / merged by efoimporter InChI=1S/C28H50O4/c1-15(2)16(3)25(31)26(32)17(4)20-9-10-21-19-8-7-18-13-23(29)24(30)14-28(18,6)22(19)11-12-27(20,21)5/h15-26,29-32H,7-14H2,1-6H3/t16-,17-,18-,19-,20+,21-,22-,23-,24+,25+,26+,27+,28-/m0/s1 InChIKey=VXBLCLVRWCLEOX-BFYSZXNBSA-N KEGG COMPOUND:C15802 LIPID MAPS:LMST01030127 MetaCyc:CPD-723 Reaxys:5097016 [H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C)[C@@]4(C)CC[C@]3([H])[C@@]1(C)C[C@@H](O)[C@@H](O)C2 6-deoxycathasterone (22S)-5alpha-campestane-3beta,22-diol 6-Deoxocathasterone Beilstein:7878139 C28H50O2 Class imported / merged by efoimporter InChI=1S/C28H50O2/c1-17(2)18(3)15-26(30)19(4)23-9-10-24-22-8-7-20-16-21(29)11-13-27(20,5)25(22)12-14-28(23,24)6/h17-26,29-30H,7-16H2,1-6H3/t18-,19+,20+,21+,22+,23-,24+,25+,26+,27+,28-/m1/s1 InChIKey=ZHZKWZJLUNXOSN-YUZBOUAZSA-N KEGG COMPOUND:C15798 LIPID MAPS:LMST01030124 MetaCyc:CPD-712 Reaxys:7878139 [H][C@@]12CC[C@@]3([H])[C@]4([H])CC[C@]([H])([C@H](C)[C@@H](O)C[C@@H](C)C(C)C)[C@@]4(C)CC[C@]3([H])[C@@]1(C)CC[C@H](O)C2 6-deoxotyphasterol (22R,23R,24S)-5alpha-ergostane-3alpha,22,23-triol (3alpha,5alpha,22R,23R,24S)-ergostane-3,22,23-triol 6-Deoxotyphasterol Beilstein:7382071 C28H50O3 CiteXplore:15896368 CiteXplore:17138693 Class imported / merged by efoimporter InChI=1S/C28H50O3/c1-16(2)17(3)25(30)26(31)18(4)22-9-10-23-21-8-7-19-15-20(29)11-13-27(19,5)24(21)12-14-28(22,23)6/h16-26,29-31H,7-15H2,1-6H3/t17-,18-,19-,20+,21-,22+,23-,24-,25+,26+,27-,28+/m0/s1 InChIKey=WPHVOXMMNSLJSF-DAWJDVIISA-N KEGG COMPOUND:C15801 [H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@]4(C)[C@]([H])(CC[C@@]34[H])[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C)[C@@]1(C)CC[C@@H](O)C2 N-methyl-N'-nitro-N-nitrosoguanidine 1-Methyl-1-nitroso-3-nitroguanidine 1-Methyl-3-nitro-1-nitrosoguanidine 1-Nitroso-3-nitro-1-methylguanidine 1-methyl-3-nitro-1-nitrosoguanidine Beilstein:1779490 C2H5N5O3 CN(N=O)C(=N)N[N+]([O-])=O ChEMBL:153803 ChemIDplus:70-25-7 Class imported / merged by efoimporter InChI=1S/C2H5N5O3/c1-6(5-8)2(3)4-7(9)10/h1H3,(H2,3,4) InChIKey=VZUNGTLZRAYYDE-UHFFFAOYSA-N KEGG COMPOUND:70-25-7 KEGG COMPOUND:C14592 MNG MNNG Methylnitronitrosoguanidine N'-Nitro-N-nitroso-N-methylguanidine N-Methyl-N',2-dioxohydrazinecarboximidohydrazide 2-oxide N-Methyl-N'-nitro-N-nitrosoguanidine N-Methyl-N-nitroso-N'-nitroguanidine N-Methyl-N-nitrosonitroguanidin N-Nitroso-N-methyl-N'-nitroguanidine NIST Chemistry WebBook:70-25-7 abscisic acid (2Z,4E)-5-(1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl)-3-methylpenta-2,4-dienoic acid Abscisinsaeure Abszisinsaeure An apo carotenoid sesquiterpenoid that has formula C15H20O4. C15H20O4 CC(\\C=C\\C1(O)C(C)=CC(=O)CC1(C)C)=C\\C(O)=O CHEBI_22152 InChI=1/C15H20O4/c1-10(7-13(17)18)5-6-15(19)11(2)8-12(16)9-14(15,3)4/h5-8,19H,9H2,1-4H3,(H,17,18)/b6-5+,10-7-/f/h17H InChIKey=JLIDBLDQVAYHNE-RGWLVKBGDZ acide abscissique acido abscisico http://www.ebi.ac.uk/efo/EFO_0001477 alkylating agent role CHEBI_22333 Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases. James Malone http://www.ebi.ac.uk/efo/EFO_0001816 alpha-tocopherol 10191-41-0 2,5,7,8-tetramethyl-2-(4',8',12'-trimethyltridecyl)-6-chromanol C29H50O2 dl-alpha-tocopherol rel-(2R)-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-3,4-dihydro-2H-chromen-6-ol true vitamin E antibiotic Antibiotika Antibiotikum James Malone Substance produced by, and obtained from, certain living cells (especially bacteria, yeasts and moulds), or an equivalent synthetic substance, which is biostatic or biocidal at low concentrations to some other form of life, especially pathogenic or noxious organisms. antibiotics antibiotique http://www.ebi.ac.uk/efo/EFO_0001485 antimycin A (2R,3S,6S,7R,8R)-3-[(3-formamido-2-hydroxybenzoyl)amino]-8-hexyl-2,6-dimethyl-4,9-dioxo-1,5-dioxonan-7-yl 3-methylbutanoate A nine-membered bis-lactone having methyl substituents at the 2- and 6-positions, an n-hexyl substituent at the 8-position, an acyloxy substituent at the 7-position and an aroylamido substituent at the 3-position. It is produced by Streptomyces bacteria and has found commercial use as a fish poison. Antimycin A1 Antipiricullin C28H40N2O9 CHEBI_22584 Fintrol InChI=1/C28H40N2O9/c1-6-7-8-9-11-20-25(39-22(32)14-16(2)3)18(5)38-28(36)23(17(4)37-27(20)35)30-26(34)19-12-10-13-21(24(19)33)29-15-31/h10,12-13,15-18,20,23,25,33H,6-9,11,14H2,1-5H3,(H,29,31)(H,30,34)/t17-,18+,20-,23+,25+/m1/s1/f/h29-30H InChIKey=UIFFUZWRFRDZJC-MBZNLELHDN Virosin [H]C(=O)Nc1cccc(C(=O)N[C@H]2[C@@H](C)OC(=O)[C@H](CCCCCC)[C@@H](OC(=O)CC(C)C)[C@H](C)OC2=O)c1O antimycin A1b http://www.ebi.ac.uk/efo/EFO_0002668 antioxidant A substance that opposes oxidation or inhibits reactions brought about by dioxygen or peroxides. CHEBI_22586 James Malone antioxidants antioxydant antoxidant role http://www.ebi.ac.uk/efo/EFO_0001817 antiviral auxin Any of a group of compounds, both naturally occurring and synthetic, that regulate aspects of plant growth (from Greek alphaupsilonxialphanuomega, "to grow"). CHEBI_22676 James Malone auxins http://www.ebi.ac.uk/efo/EFO_0001818 benzenetriols CHEBI_22707 James Malone benzenetriol http://www.ebi.ac.uk/efo/EFO_0001665 benzodiazepine benzodiazepines true bleomycin Class imported / merged by efoimporter phytogenic insecticide An insecticide compound naturally occurring in plants. CHEBI_22917 James Malone botanical insecticide botanical insecticides http://www.ebi.ac.uk/efo/EFO_0001819 phytogenic insecticides cadmium 23940 3940 48Cd 7440-43-9 A zinc group element atom that has formula Cd. Cd InChI=1/Cd InChIKey=BDOSMKKIYDKNTQ-UHFFFAOYAU Kadmium [Cd] cadmio cadmium cadmium atom cadmium compounds CHEBI_22978 cadmium molecular entities cadmium molecular entity http://www.ebi.ac.uk/efo/EFO_0001497 calcium 20Ca CHEBI_C00076 Ca Calcium ChemIDplus:7440-70-2 InChI=1S/Ca.2H InChIKey=FAQLAUHZSGTTLN-UHFFFAOYSA-N Kalzium WebElements:Ca [Ca] calcio true calcium ionophore CHEBI_22986 Ele Holloway James Malone calcium ionophores http://www.ebi.ac.uk/efo/EFO_0002402 carbohydrate Kohlenhydrat Kohlenhydrate carbohidrato carbohidratos carbohydrates glucide glucides glucido glucidos hydrates de carbone saccharide saccharides saccharidum true castasterone (22R,23R)-2alpha,3alpha,22,23-tetrahydroxy-5alpha-campestan-6-one (2alpha,3alpha,5alpha,22R,23R,24S)-2,3,22,23-tetrahydroxyergostan-6-one Beilstein:3657132 C28H48O5 ChemIDplus:80736-41-0 Class imported / merged by efoimporter InChI=1S/C28H48O5/c1-14(2)15(3)25(32)26(33)16(4)18-7-8-19-17-11-22(29)21-12-23(30)24(31)13-28(21,6)20(17)9-10-27(18,19)5/h14-21,23-26,30-33H,7-13H2,1-6H3/t15-,16-,17-,18+,19-,20-,21+,23-,24+,25+,26+,27+,28+/m0/s1 InChIKey=VYUIKSFYFRVQLF-YLNAYWRASA-N LIPID MAPS:LMST01030129 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])C[C@H](O)[C@H](O)C[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C cathasterone (22S)-3beta,22-dihydroxy-5alpha-campestan-6-one 6-oxo-campestan-3beta,22R-diol Beilstein:7416517 C28H48O3 Class imported / merged by efoimporter InChI=1S/C28H48O3/c1-16(2)17(3)13-25(30)18(4)21-7-8-22-20-15-26(31)24-14-19(29)9-11-28(24,6)23(20)10-12-27(21,22)5/h16-25,29-30H,7-15H2,1-6H3/t17-,18+,19+,20+,21-,22+,23+,24-,25+,27-,28-/m1/s1 InChIKey=JSVPGVHCEQDJCZ-VGEHDTSWSA-N LIPID MAPS:LMST01030132 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)C[C@@H](C)C(C)C coenzyme coenzymes colchicine A carbotricyclic compound comprising 5,6,7,9-tetrahydrobenzo[a]heptalene having four methoxy substituents at the 1-, 2-, 3- and 10-positions as well as an oxo group at the 9-position and an acetamido group at the 7-position. A carbotricyclic compound that has formula C22H25NO6. C22H25NO6 CHEBI_23359 COC1=CC=C2C(=CC1=O)C(CCc3cc(OC)c(OC)c(OC)c23)NC(C)=O InChI=1/C22H25NO6/c1-12(24)23-16-8-6-13-10-19(27-3)21(28-4)22(29-5)20(13)14-7-9-18(26-2)17(25)11-15(14)16/h7,9-11,16H,6,8H2,1-5H3,(H,23,24)/f/h23H InChIKey=IAKHMKGGTNLKSZ-MPIMZMORCX N-(1,2,3,10-tetramethoxy-9-oxo-5,6,7,9-tetrahydrobenzo[a]heptalen-7-yl)acetamide http://www.ebi.ac.uk/efo/EFO_0001512 http://en.wikipedia.org/wiki/Colchicine compatible osmolytes role CHEBI_23366 James Malone http://www.ebi.ac.uk/efo/EFO_0001820 AACOCF3 (6Z,9Z,12Z,15Z)-1,1,1-trifluorohenicosa-6,9,12,15-tetraen-2-one AACOCF3 Arachidonic acid trifluoromethyl ketone Arachidonyl trifluoromethyl ketone Arachidonyltrifluoromethane C21H31F3O CCCCC\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(=O)C(F)(F)F ChEMBL:138208 ChemIDplus:149301-79-1 Class imported / merged by efoimporter InChI=1S/C21H31F3O/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(25)21(22,23)24/h6-7,9-10,12-13,15-16H,2-5,8,11,14,17-19H2,1H3/b7-6-,10-9-,13-12-,16-15- InChIKey=PLWROONZUDKYKG-DOFZRALJSA-N James Malone KEGG COMPOUND:C01397 http://www.ebi.ac.uk/efo/EFO_0001476 copper(2+) sulfate ChemIDplus:7758-98-7 CiteXplore:10469300 CiteXplore:8566016 Class imported / merged by efoimporter CuO4S CuSO4 Cupric sulfate Gmelin:8294 InChI=1S/Cu.H2O4S/c;1-5(2,3)4/h;(H2,1,2,3,4)/q+2;/p-2 InChIKey=ARUVKPQLZAKDPS-UHFFFAOYSA-L Wikipedia:Cupric_Sulfate [Cu++].[O-]S([O-])(=O)=O copper sulfate copper(2+) sulfate copper(II) sulfate cupric sulfate anhydrous http://www.ebi.ac.uk/efo/EFO_0001513 cytochalasin B CHEBI_23527 http://www.ebi.ac.uk/efo/EFO_0001517 cytokinins CHEBI_23530 James Malone http://www.ebi.ac.uk/efo/EFO_0001821 abacavir 136470-78-5 3'-phosphoadenosine 5'-{3-[(3R)-3-hydroxy-2,2-dimethyl-4-oxo-4-{[3-oxo-3-({2-[(3,4,4-trimethylhepta-2,5-dien-1-yl)sulfanyl]ethyl}amino)propyl]amino}butyl]dihydrogen diphosphate} 3,4,4-trimethylhepta-2,5-dienyl-CoA C31H48N7O19P3S CC(=CC(=O)SCCNC(=O)CCNC(=O)[C@H](O)C(C)(C)COP(O)(=O)OP(O)(=O)OC[C@H]1O[C@H]([C@H](O)[C@@H]1OP(O)(O)=O)n1cnc2c(N)ncnc12)C(C)(C)C=CC(O)=O Delta(2,5)-3,4,4-trimethylpimeloyl-CoA InChI=1/C31H48N7O19P3S/c1-17(30(2,3)8-6-20(40)41)12-21(42)61-11-10-33-19(39)7-9-34-28(45)25(44)31(4,5)14-54-60(51,52)57-59(49,50)53-13-18-24(56-58(46,47)48)23(43)29(55-18)38-16-37-22-26(32)35-15-36-27(22)38/h6,8,12,15-16,18,23-25,29,43-44H,7,9-11,13-14H2,1-5H3,(H,33,39)(H,34,45)(H,40,41)(H,49,50)(H,51,52)(H2,32,35,36)(H2,46,47,48)/t18-,23-,24-,25+,29-/m1/s1/f/h33-34,40,46-47,49,51H,32H2 InChIKey=DEQKKPDRDCEPQL-UACJGMJGDX delta2,5-3,4,4-trimethylpimelyl-CoA (+)-abscisic acid (2Z,4E)-5-[(1S)-1-hydroxy-2,6,6-trimethyl-4-oxocyclohex-2-en-1-yl]-3-methylpenta-2,4-dienoic acid (7E,9Z)-(6S)-6-hydroxy-3-oxo-11-apo-epsilon-caroten-11-oic acid (S)-(+)-abscisic acid 2-cis,4-trans-abscisic acid ABA An abscisic acid that has formula C15H20O4. C15H20O4 CC(\\C=C\\[C@@]1(O)C(C)=CC(=O)CC1(C)C)=C\\C(O)=O CHEBI_2365 InChI=1/C15H20O4/c1-10(7-13(17)18)5-6-15(19)11(2)8-12(16)9-14(15,3)4/h5-8,19H,9H2,1-4H3,(H,17,18)/b6-5+,10-7-/t15-/m1/s1/f/h17H InChIKey=JLIDBLDQVAYHNE-MPLKMVHTDC James Malone The naturally occurring (1'S)-(+) enantiomer of abscisic acid. It is an important sesquiterpenoid plant hormone which acts as a regulator of plant responses to environmental stresses such as drought and cold. abscisin II http://www.ebi.ac.uk/efo/EFO_0001464 acarbose 4,6-dideoxy-4-{[(1S,4S,5S,6S)-4,5,6-trihydroxy-3-(hydroxymethyl)cyclohex-2-en-1-yl]amino}-alpha-D-glucopyranosyl-(1->4)-alpha-D-glucopyranosyl-(1->4)-D-glucose Acarbose C25H43NO18 C[C@H]1O[C@H](O[C@@H]2[C@@H](CO)O[C@H](O[C@@H]3[C@@H](CO)O[C@@H](O)[C@H](O)[C@H]3O)[C@H](O)[C@H]2O)[C@H](O)[C@@H](O)[C@@H]1N[C@H]1C=C(CO)[C@H](O)[C@H](O)[C@H]1O ChemIDplus:56180-94-0 Class imported / merged by efoimporter DrugBank:DB00284 Glucobay InChI=1S/C25H43NO18/c1-6-11(26-8-2-7(3-27)12(30)15(33)13(8)31)14(32)19(37)24(40-6)43-22-10(5-29)42-25(20(38)17(22)35)44-21-9(4-28)41-23(39)18(36)16(21)34/h2,6,8-39H,3-5H2,1H3/t6-,8+,9-,10-,11-,12+,13+,14+,15+,16-,17-,18-,19-,20-,21-,22-,23-,24-,25-/m1/s1 InChIKey=XUFXOAAUWZOOIT-JMPDRRIHSA-N KEGG COMPOUND:56180-94-0 KEGG COMPOUND:C06802 KEGG DRUG:D00216 Patent:DE2347782 Patent:US4062950 Precose acarbosa acarbose acarbosum drug Any substance which when absorbed into a living organism may modify one or more of its functions. The term is generally accepted for a substance taken for a therapeutic purpose, but is also commonly used for abused substances. drugs http://www.ebi.ac.uk/efo/EFO_0002604 medicine enzyme inhibitor A compound or agent that combines with an enzyme in such a manner as to prevent the normal substrate-enzyme combination and the catalytic reaction. CHEBI_23924 James Malone enzyme inhibitors http://www.ebi.ac.uk/efo/EFO_0001822 inhibidor enzimatico inhibidores enzimaticos inhibiteur enzymatique inhibiteurs enzymatiques estradiol A steroid hormone that has formula C18H24O2. C18H24O2 InChI=1/C18H24O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h3,5,10,14-17,19-20H,2,4,6-9H2,1H3/t14-,15-,16+,17?,18+/m1/s1 InChIKey=VOXZDWNPVJITMN-WKUFJEKOBY [H][C@]12CC[C@]3(C)C(O)CC[C@@]3([H])[C@]1([H])CCc1cc(O)ccc21 estra-1,3,5(10)-triene-3,17-diol http://www.ebi.ac.uk/efo/EFO_0001529 oestradiol ethyl nitrosourea 1-(Aminocarbonyl)-1-ethyl-2-oxohydrazine 1-ethyl-1-nitrosourea A urea compound having ethyl and nitroso substituents in the 1-position. Aethylnitroso-harnstoff C3H7N3O2 CCN(N=O)C(N)=O CHEBI_23995 ENU InChI=1/C3H7N3O2/c1-2-6(5-8)3(4)7/h2H2,1H3,(H2,4,7)/f/h4H2 InChIKey=FUSGACRLAFQQRL-LGEMBHMGCE N-Ethyl-N-nitroso carbamide N-Ethyl-N-nitroso-urea N-Ethylnitrosourea N-ethyl-N-nitrosourea NEU http://www.ebi.ac.uk/efo/EFO_0001533 fungicide A substance used to destroy fungal pests. CHEBI_24127 James Malone fungicides http://www.ebi.ac.uk/efo/EFO_0001823 chemical entity true biological role A role played by the molecular entity or part thereof within a biological context. Helen Parkinson acyclovir 2-amino-9-[(2-hydroxyethoxy)methyl]-1,9-dihydro-6H-purin-6-one 59277-89-3 A 2-aminopurine that has formula C8H11N5O3. C8H11N5O3 InChI=1/C8H11N5O3/c9-8-11-6-5(7(15)12-8)10-3-13(6)4-16-2-1-14/h3,14H,1-2,4H2,(H3,9,11,12,15)/f/h12H,9H2 InChIKey=MKUXAQIIEYXACX-TVNKGWMHCG Nc1nc2n(COCCO)cnc2c(=O)[nH]1 Zovir aciclovir aciclovirum organic heterocyclic compound organic heterocycle organic heterocyclic compounds hormone An endogenous compound that is formed in specialized organ or group of cells and carried to another organ or group of cells, in the same organism, upon which it has a specific regulatory function. endocrine hormones http://www.ebi.ac.uk/efo/EFO_0002657 hypochlorous acid 16737 36737 7790-92-3 A weak, unstable acid with formula HOCl, which is the active form of chlorine in water. Chlor(I)-saeure ClHO HClO HClO HOCl InChI=1/ClHO/c1-2/h2H InChIKey=QWPPOHNGKGFGJK-UHFFFAOYAT OCl [ClOH] chloranol hydroxidochlorine hypochloric acid hypochlorige Saeure hypochlorous acid insecticide A substance used to destroy pests of the class Insecta. CHEBI_24852 James Malone http://www.ebi.ac.uk/efo/EFO_0001825 insecticides jasmonic acids CHEBI_24937 James Malone http://www.ebi.ac.uk/efo/EFO_0001826 jasmonates lead 82Pb A carbon group element atom that has formula Pb. A carbon group element that has formula Pb. Blei CHEBI_25016 Ele Holloway InChI=1/Pb InChIKey=WABPQHHGFIMREM-UHFFFAOYAT James Malone [Pb] http://www.ebi.ac.uk/efo/EFO_0002412 lead atom plomb plomo plumbum aflatoxin B1 "Blue Bone" Formation (6aR,9aS)-4-methoxy-2,3,6a,9a-tetrahydrocyclopenta[c]furo[3',2':4,5]furo[2,3-h]chromene-1,11-dione 1162-65-8 2,3,6aalpha,9aalpha-Tetrahydro-4-methoxycyclopenta(c)furo(3',2':4,5)furo(2,3-h)(1)benzopyran-1,11-dione 20035 35 4-(methyloxy)-2,3,6a,9a-tetrahydrocyclopenta[c]furo[3',2':4,5]furo[2,3-h]chromene-1,11-dione ABL1 ABL1 Gene ABL1 Gene[accessedResource: C17H12O6][accessDate: 05-04-2011] ABL1[accessedResource: C17H12O6][accessDate: 05-04-2011] AFB1 An aflatoxin that has formula C17H12O6. C17H12O6 C17H12O6 InChI=1/C17H12O6/c1-20-10-6-11-14(8-4-5-21-17(8)22-11)15-13(10)7-2-3-9(18)12(7)16(19)23-15/h4-6,8,17H,2-3H2,1H3/t8-,17+/m0/s1 InChIKey=OQIQSTLJSLGHID-WNWIJWBNBK This gene is involved in cell adhesion, differentiation, division and stress response. This gene is involved in cell adhesion, differentiation, division and stress response.[accessedResource: C17H12O6][accessDate: 05-04-2011] [H][C@]12OC=C[C@@]1([H])c1c(O2)cc(OC)c2c3CCC(=O)c3c(=O)oc12 v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene[accessedResource: C17H12O6][accessDate: 05-04-2011] linoleic acids Any of two trienoic essential fatty acids; a nutrient essential to the formation of prostaglandins. Also used in making paints and synthetic resins. CHEBI_25048 http://www.ebi.ac.uk/efo/EFO_0001563 linolenic acid linolenic acids lysine 2,6-diaminohexanoic acid Beilstein:1616991 C6H14N2O2 ChemIDplus:70-54-2 Gmelin:279284 InChI=1S/C6H14N2O2/c7-4-2-1-3-5(8)6(9)10/h5H,1-4,7-8H2,(H,9,10) InChIKey=KDXKERNSBIXSRK-UHFFFAOYSA-N Lysin NCCCCC(N)C(O)=O NIST Chemistry WebBook:70-54-2 alpha,epsilon-diaminocaproic acid true magnesium 12Mg CHEBI_C00305 ChemIDplus:7439-95-4 Gmelin:16207 InChI=1S/Mg.2H InChIKey=RSHAOIXHUHAZPM-UHFFFAOYSA-N Magnesium Mg WebElements:Mg [Mg] magnesio true agarose (1->4)-3,6-anhydro-alpha-L-galactopyranosyl-(1->3)-beta-D-galactopyranan (C12H18O9)n 9012-36-6 A polysaccharide that has formula (C12H18O9)n. InChI=1/C24H38O19/c25-1-5-9(27)11(29)12(30)22(38-5)41-17-8-4-36-20(17)15(33)24(40-8)43-18-10(28)6(2-26)39-23(14(18)32)42-16-7-3-35-19(16)13(31)21(34)37-7/h5-34H,1-4H2/t5-,6-,7+,8+,9+,10+,11+,12-,13+,14-,15+,16-,17-,18+,19+,20+,21-,22+,23+,24+/m1/s1 InChIKey=MJQHZNBUODTQTK-WKGBVCLCBX Sepharose [4)-3,6-An-alpha-L-Galp-(1->3)-beta-D-Galp-(1->]n metabolite role Any intermediate or product resulting from metabolism. Helen Parkinson methyl methanesulfonate A methanesulfonate ester that has formula C2H6O3S. C2H6O3S CB1540 CHEBI_25255 COS(C)(=O)=O InChI=1/C2H6O3S/c1-5-6(2,3)4/h1-2H3 InChIKey=MBABOKRGFJTBAE-UHFFFAOYAK MMS Methanesulfonic acid methyl ester Methyl mesylate as-Dimethyl sulfite http://www.ebi.ac.uk/efo/EFO_0001573 mevalonate 3,5-dihydroxy-3-methylpentanoate Beilstein:4383181 C6H11O4 CC(O)(CCO)CC([O-])=O Class imported / merged by efoimporter InChI=1S/C6H12O4/c1-6(10,2-3-7)4-5(8)9/h7,10H,2-4H2,1H3,(H,8,9)/p-1 InChIKey=KJTLQQUUPVSXIM-UHFFFAOYSA-M Reaxys:4383181 mevalonate anion mitochondrial respiratory-chain inhibitor CHEBI_25355 James Malone http://www.ebi.ac.uk/efo/EFO_0001827 mitochondrial electron transport chain inhibitors mitochondrial electron-transport chain inhibitor mitochondrial respiratory chain inhibitors bis(2-chloroethyl) sulfide 1,1'-thiobis(2-chloroethane) 1-chloro-2-[(2-chloroethyl)sulfanyl]ethane 1-chloro-2-[(2-chloroethyl)thio]ethane An ethyl sulfide that has formula C4H8Cl2S. C4H8Cl2S CHEBI_25434 ClCCSCCCl InChI=1/C4H8Cl2S/c5-1-3-7-4-2-6/h1-4H2 InChIKey=QKSKPIVNLNLAAV-UHFFFAOYAK James Malone Lost Senfgas Yperite bis(2-chloroethyl) sulphide bis(2-chloroethyl)sulfane http://www.ebi.ac.uk/efo/EFO_0001492 mustard gas sulfur mustard mutagen An agent that increases the frequency of spontanenous mutation, usually by interacting directly with DNA and causing it damage, including base substitution. CHEBI_25435 James Malone http://www.ebi.ac.uk/efo/EFO_0001828 mutagene mutagenes mutagenic agent mutageno mutagenos mutagens 7,12-dimethylbenz(a)anthracene 1,4-Dimethyl-2,3-benzphenanthrene 11-Eicosenoic Acid 11-Eicosenoic Acid[accessedResource: C20H16][accessDate: 05-04-2011] 20510 510 57-97-6 6,7-Dimethyl-1,2-benzanthracene 7,12-DMBA 7,12-Dimethyl-1,2-benzanthracene 7,12-Dimethyl-1:2-benz(a)anthracene 7,12-Dimethylbenzanthracene 7,12-Dimethylbenzanthrancene 7,12-dimethylbenzo[a]anthracene 7,12-dimethyltetraphene 7,12-dimethyltetraphene 9,10-Dimethyl-1,2-benzanthracene 9,10-Dimethyl-1,2-benzanthrazen 9,10-Dimethylbenz(a)anthracene A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration. A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H16][accessDate: 05-04-2011] A tetraphene having methyl substituents at the 7- and 12-positions. It is a potent carcinogen and is present in tobacco smoke. C20:1 n-9 cis C20:1 n-9 cis[accessedResource: C20H16][accessDate: 05-04-2011] C20H16 C20H16 Cc1c2ccccc2c(C)c2c1ccc1ccccc21 Cis-icos-11-enoic Cis-icos-11-enoic[accessedResource: C20H16][accessDate: 05-04-2011] DMBA Fatty Acid 20:1 n-9 Fatty Acid 20:1 n-9[accessedResource: C20H16][accessDate: 05-04-2011] Gondoic Acid Gondoic Acid[accessedResource: C20H16][accessDate: 05-04-2011] InChI=1/C20H16/c1-13-16-8-5-6-9-17(16)14(2)20-18(13)12-11-15-7-3-4-10-19(15)20/h3-12H,1-2H3 InChIKey=ARSRBNBHOADGJU-UHFFFAOYAX myxothiazol (2E,4R,5S,6E)-3,5-dimethoxy-4-methyl-7-{2'-[(2S,3E,5E)-7-methylocta-3,5-dien-2-yl]-2,4'-bi-1,3-thiazol-4-yl}hepta-2,6-dienamide A 2,4'-bi-1,3-thiazole substituted at the 4-position with a (1E,3S,4R,5E)-7-amino-3,5-dimethoxy-4-methyl-7-oxohepta-1,5-dien-1-yl] group and at the 2'-position with a (2S,3E,5E)-7-methylocta-3,5-dien-2-yl group. It is an inhibitor of coenzyme Q - cytochrome c reductase. C25H33N3O3S2 CHEBI_25461 CO[C@@H](\\C=C\\c1csc(n1)-c1csc(n1)C(C)\\C=C\\C=C\\C(C)C)[C@@H](C)C(\\OC)=C/C(N)=O InChI=1/C25H33N3O3S2/c1-16(2)9-7-8-10-17(3)24-28-20(15-33-24)25-27-19(14-32-25)11-12-21(30-5)18(4)22(31-6)13-23(26)29/h7-18,21H,1-6H3,(H2,26,29)/b9-7+,10-8+,12-11+,22-13+/t17?,18-,21+/m1/s1/f/h26H2 InChIKey=XKTFQMCPGMTBMD-WAZGDBOIDY http://www.ebi.ac.uk/efo/EFO_0002672 aldicarb (1E)-2-methyl-2-(methylthio)propanal O-[(methylamino)carbonyl]oxime 116-06-3 2-Methyl-2-(methylthio)propanal, O-((methylamino)carbonyl)oxime 2-Methyl-2-(methylthio)propionaldehyde O-(methylcarbamoyl)oxime 2-Methyl-2-methylthio-propionaldehyd-O-(N-methyl-carbamoyl)-oxim 2-methyl-N-[(methylcarbamoyl)oxy]-2-(methylsulfanyl)propan-1-imine 39 39223 C7 C7H14N2O2S C7H14N2O2S C7[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] CRG-2 CRG-2[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] CXCL10 wt Allele CXCL10 wt Allele[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] Chemokine (C-X-C Motif) Ligand 10 wt Allele Chemokine (C-X-C Motif) Ligand 10 wt Allele[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression. Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] IFI10 IFI10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] INP10 INP10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] IP-10 IP-10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] InChI=1/C7H14N2O2S/c1-7(2,12-4)5-9-11-6(10)8-3/h5H,1-4H3,(H,8,10)/f/h8H InChIKey=QGLZXHRNAYXIBU-FZOZFQFYCY MOB-1 MOB-1[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] SCYB10 SCYB10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] The oxime carbamate resulting from the addition of 2-methyl-2-(methylsulfanyl)propanaldoxime to methyl isocyanate. A member of the class of oxime carbamate insecticides, aldicarb is a mixture of E and Z isomers; it is not known which isomer is more active. [H]C(=NOC(=O)NC)C(C)(C)SC aldicarbe gIP-10 gIP-10[accessedResource: C7H14N2O2S][accessDate: 05-04-2011] nitrogen atom 7N Class imported / merged by efoimporter N Stickstoff WebElements:N azote nitrogen nitrogeno alendronic acid (4-Amino-1-hydroxybutylidene)bisphosphonic acid (4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid) 66376-36-1 InChI=1/C4H13NO7P2/c5-3-1-2-4(6,13(7,8)9)14(10,11)12/h6H,1-3,5H2,(H2,7,8,9)(H2,10,11,12)/f/h7-8,10-11H InChIKey=OGSPWJRAVKPPFI-WMXLOSIUCK NCCCC(O)(P(O)(O)=O)P(O)(O)=O acide alendronique acido alendronico acidum alendronicum alendronate oligomycin Class imported / merged by efoimporter http://www.ebi.ac.uk/efo/EFO_0001586 organochlorine pesticides 40573 Ocs Organochlorinsektizid chlororganische Insektizide organochlorine insecticide organochlorine insecticides ozone A triatomic oxygen that has formula O3. CHEBI_25812 InChI=1/O3/c1-3-2 InChIKey=CBENFWSGALASAD-UHFFFAOYAY O3 Ozon Trisauerstoff [O-][O+]=O [OO2] http://www.ebi.ac.uk/efo/EFO_0002676 ozono trioxygen trioxygene phosphate 14265-44-2 19672 39672 O4P Salts and esters of phosphoric and oligophosphoric acids and their chalcogen analogues. In inorganic chemistry, the term is also used to describe anionic coordination entities with phosphorus as central atom. phosphate phosphates pigment A pigment cell is a cell that contains pigment granules. A pigment cell is a cell that contains pigment granules.[accessedResource: CL:0000147][accessDate: 05-04-2011] AAO:0000430 An endogenous molecular entity that results in a colour of an organism as the consequence of the selective absorption of light. CL:0000147 James Malone MAT:0000159 MFO:0003360 NIFSTD:sao1231384859 Tomasz Adamusiak ZFA:0009090 biological pigment chromatocyte chromatocyte[accessedResource: CL:0000147][accessDate: 05-04-2011] chromatophore chromatophore[accessedResource: ZFA:0009090][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000957 pigment cell pigment cell[accessedResource: ZFA:0009090][accessDate: 05-04-2011] pigment cells pigment cells[accessedResource: MAT:0000159][accessDate: 05-04-2011] pigmentation pigments plant growth regulator A chemical, natural or artificial, that can affect the rate of growth of a plant. CHEBI_26155 James Malone http://www.ebi.ac.uk/efo/EFO_0001900 plant growth regulators phytohormone CHEBI_26158 James Malone http://www.ebi.ac.uk/efo/EFO_0001829 amikacin (2S)-4-amino-N-[(1R,2S,3S,4R,5S)-5-amino-2-(3-amino-3-deoxy-alpha-D-glucopyranosyloxy)-4-(6-amino-6-deoxy-alpha-D-glucopyranosyloxy)-3-hydroxycyclohexyl]-2-hydroxybutanamide 1-N-(L(-)-gamma-amino-alpha-hydroxybutyryl)kanamycin A 37517-28-5 An alpha-D-glucoside that has formula C22H43N5O13. C22H43N5O13 InChI=1/C22H43N5O13/c23-2-1-8(29)20(36)27-7-3-6(25)18(39-22-16(34)15(33)13(31)9(4-24)37-22)17(35)19(7)40-21-14(32)11(26)12(30)10(5-28)38-21/h6-19,21-22,28-35H,1-5,23-26H2,(H,27,36)/t6-,7+,8-,9+,10+,11-,12+,13+,14+,15-,16+,17-,18+,19-,21+,22+/m0/s1/f/h27H InChIKey=LKCWBDHBTVXHDL-VLZSSAFWDT NCC[C@H](O)C(=O)N[C@@H]1C[C@H](N)[C@@H](O[C@H]2O[C@H](CN)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](N)[C@H]1O O-3-amino-3-deoxy-alpha-D-glucopyranosyl-(1->4)-O-(6-amino-6-deoxy-alpha-D-glucopyranosyl-(1->6))-N(3)-(4-amino-L-2-hydroxybutyryl)-2-deoxy-L-streptamine amikacina amikacine amikacinum retinoic acid 3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid A retinoid that has formula C20H28O2. C20H28O2 CC(C=CC1=C(C)CCCC1(C)C)=CC=CC(C)=CC(O)=O CHEBI_26536 InChI=1/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)/f/h21H InChIKey=SHGAZHPCJJPHSC-PKSOQXRJCZ http://www.ebi.ac.uk/efo/EFO_0001603 amiodarone (2-butyl-1-benzofuran-3-yl){4-[2-(diethylamino)ethoxy]-3,5-diiodophenyl}methanone 2-Butyl-3-(3,5-diiodo-4-(2-diethylaminoethoxy)benzoyl)benzofuran 2-Butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl ketone 2-n-Butyl-3',5'-diiodo-4'-N-diethylaminoethoxy-3-benzoylbenzofuran Amiodarone Beilstein:1271711 C25H29I2NO3 CCCCc1oc2ccccc2c1C(=O)c1cc(I)c(OCCN(CC)CC)c(I)c1 ChEMBL:127185 ChemIDplus:1951-25-3 Class imported / merged by efoimporter InChI=1S/C25H29I2NO3/c1-4-7-11-22-23(18-10-8-9-12-21(18)31-22)24(29)17-15-19(26)25(20(27)16-17)30-14-13-28(5-2)6-3/h8-10,12,15-16H,4-7,11,13-14H2,1-3H3 InChIKey=IYIKLHRQXLHMJQ-UHFFFAOYSA-N KEGG COMPOUND:1951-25-3 KEGG COMPOUND:C06823 Wikipedia:Amiodarone amitriptyline 10,11-dihydro-5-(gamma-dimethylaminopropylidene)-5H-dibenzo(a,d)cycloheptene 10,11-dihydro-N,N-dimethyl-5H-dibenzo(a,d)heptalene-Delta(5),gamma-propylamine 3-(10,11-dihydro-5H-dibenzo(a,d)cyclohepten-5-ylidene)-N,N-dimethyl-1-propanamine 3-(10,11-dihydro-5H-dibenzo[a,d][7]annulen-5-ylidene)-N,N-dimethylpropan-1-amine 3-(10,11-dihydro-5H-dibenzo[a,d]cyclohepten-5-ylidene)-N,N-dimethylpropan-1-amine 5-(3-dimethylaminopropylidene)-10,11-dihydro-5H-dibenzo(a,d)cycloheptatriene 5-(3-dimethylaminopropylidene)-10,11-dihydro-5H-dibenzo(a,d)cycloheptene 5-(gamma-dimethylaminopropylidene)-5H-dibenzo[a,d][1,4]cycloheptadiene A tricyclic antidepressant that has formula C20H23N. Amitriptylin C20H23N CHEBI_2666 CN(C)CCC=C1c2ccccc2CCc2ccccc12 InChI=1/C20H23N/c1-21(2)15-7-12-20-18-10-5-3-8-16(18)13-14-17-9-4-6-11-19(17)20/h3-6,8-12H,7,13-15H2,1-2H3 InChIKey=KRMDCWKBEZIMAB-UHFFFAOYAI James Malone http://www.ebi.ac.uk/efo/EFO_0001483 sodium chloride Beilstein:3534976 ChEMBL:774525 ChemIDplus:7647-14-5 ClNa Class imported / merged by efoimporter Gmelin:13673 InChI=1S/ClH.Na/h1H;/q;+1/p-1 InChIKey=FAPWRFPIFSIZLT-UHFFFAOYSA-M Kochsalz NIST Chemistry WebBook:7647-14-5 NaCl Natriumchlorid Wikipedia:Sodium_Chloride [Na+].[Cl-] chlorure de sodium cloruro sodico common salt halite http://www.ebi.ac.uk/efo/EFO_0001611 natrii chloridum rock salt salt sodium chloride table salt sodium cholate Jon Ison cholic acid, monosodium salt http://www.ebi.ac.uk/efo/EFO_0003217 sodium cholate hydrate Beilstein:4289807 "Beilstein Registry Number" ChemIDplus:361-09-1 "CAS Registry Number" "A cholate salt that has formula C24H39NaO5." [] cholic acid, monosodium salt cholic acid, monosodium salt amoxicillin (2S,5R,6R)-6-{[(2R)-2-amino-2-(4-hydroxyphenyl)acetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid 6-(p-hydroxy-alpha-aminophenylacetamido)penicillanic acid 6beta-[(2R)-2-amino-2-(4-hydroxyphenyl)acetamido]-2,2-dimethylpenam-3alpha-carboxylic acid A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-(4-hydroxyphenyl)acetamido group. A penicillin that has formula C16H19N3O5S. AMPC AX Amolin Amopenixin Amoxicillin anhydrous C16H19N3O5S CHEBI_2676 Clamoxyl InChI=1/C16H19N3O5S/c1-16(2)11(15(23)24)19-13(22)10(14(19)25-16)18-12(21)9(17)7-3-5-8(20)6-4-7/h3-6,9-11,14,20H,17H2,1-2H3,(H,18,21)(H,23,24)/t9-,10-,11+,14-/m1/s1/f/h18,23H InChIKey=LSQZJLSUYDQPKJ-VLWBPTPADT James Malone Moxal [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)[C@H](N)c1ccc(O)cc1)C(O)=O alpha-amino-p-hydroxybenzylpenicillin amoxicilina amoxicilline amoxicillinum amoxycillin http://www.ebi.ac.uk/efo/EFO_0002003 p-hydroxyampicillin steroid hormone Any steroid that act as hormone. CHEBI_26764 Gonadal Steroid Hormones Gonadal Steroid Hormones[accessedResource: MSH:D012739][accessDate: 05-04-2011] Hormones, Gonadal Steroid Hormones, Gonadal Steroid[accessedResource: MSH:D012739][accessDate: 05-04-2011] Hormones, Sex Steroid Hormones, Sex Steroid[accessedResource: MSH:D012739][accessDate: 05-04-2011] MSH:D012739 Sex Hormones Sex Hormones[accessedResource: MSH:D012739][accessDate: 05-04-2011] Sex Steroid Hormones Sex Steroid Hormones[accessedResource: MSH:D012739][accessDate: 05-04-2011] Steroid Hormones, Gonadal Steroid Hormones, Gonadal[accessedResource: MSH:D012739][accessDate: 05-04-2011] Steroid Hormones, Sex Steroid Hormones, Sex[accessedResource: MSH:D012739][accessDate: 05-04-2011] Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE. Steroid hormones produced by the GONADS. They stimulate reproductive organs, germ cell maturation, and the secondary sex characteristics in the males and the females. The major sex steroid hormones include ESTRADIOL; PROGESTERONE; and TESTOSTERONE.[accessedResource: MSH:D012739][accessDate: 05-04-2011] Steroidhormon Steroidhormone Tomasz Adamusiak hormona esteroide hormonas esteroideas hormone steroide hormones steroides http://www.ebi.ac.uk/efo/EFO_0001614 steroid hormones amphotericin B (1R,3S,5R,6R,9R,11R,15S,16R,17R,18S,19E,21E,23E,25E,27E,29E,31E,33R,35S,36R,37S)-33-[(3-amino-3,6-dideoxy-beta-D-mannopyranosyl)oxy]-1,3,5,6,9,11,17,37-octahydroxy-15,16,18-trimethyl-13-oxo-14,39-dioxabicyclo[33.3.1]nonatriaconta-19,21,23,25,27,29,31-heptaene-36-carboxylic acid 1397-89-3 A macrolide antibiotic used to treat potentially life-threatening fungal infections. AMPH-B Amphotericine B InChI=1/C47H73NO17/c1-27-17-15-13-11-9-7-5-6-8-10-12-14-16-18-34(64-46-44(58)41(48)43(57)30(4)63-46)24-38-40(45(59)60)37(54)26-47(61,65-38)25-33(51)22-36(53)35(52)20-19-31(49)21-32(50)23-39(55)62-29(3)28(2)42(27)56/h5-18,27-38,40-44,46,49-54,56-58,61H,19-26,48H2,1-4H3,(H,59,60)/b6-5+,9-7+,10-8+,13-11+,14-12+,17-15+,18-16+/t27-,28-,29-,30+,31+,32+,33-,34-,35+,36+,37-,38-,40+,41-,42+,43+,44-,46-,47+/m0/s1/f/h59H InChIKey=APKFDSVGJQXUKY-YQFBPWLTDP Liposomal Amphotericin B [H][C@]12C[C@@H](O[C@@H]3O[C@H](C)[C@@H](O)[C@H](N)[C@@H]3O)\\C=C\\C=C\\C=C\\C=C\\C=C\\C=C\\C=C\\[C@H](C)[C@@H](O)[C@@H](C)[C@H](C)OC(=O)C[C@H](O)C[C@H](O)CC[C@@H](O)[C@H](O)C[C@H](O)C[C@](O)(C[C@H](O)[C@H]1C(O)=O)O2 amfotericina B amphotericinum B teasterone (22R,23R)-3beta,22,23-trihydroxy-5alpha-campestan-6-one (22R,23R,24S)-3beta,22,23-trihydroxy-5alpha-ergostan-6-one 6-oxo-campestan-3beta,22R,23R-triol Beilstein:5305497 C28H48O4 Class imported / merged by efoimporter InChI=1S/C28H48O4/c1-15(2)16(3)25(31)26(32)17(4)20-7-8-21-19-14-24(30)23-13-18(29)9-11-28(23,6)22(19)10-12-27(20,21)5/h15-23,25-26,29,31-32H,7-14H2,1-6H3/t16-,17-,18-,19-,20+,21-,22-,23+,25+,26+,27+,28+/m0/s1 InChIKey=SBSXXCCMIWEPEE-GZKYLSGOSA-N LIPID MAPS:LMST01030121 [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC(=O)[C@@]4([H])C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C toxin NIFSTD:birnlex_2103 Poisonous substance produced by a biological organism such as a microbe, animal or plant. Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001629 toxins micronutrient CHEBI_27027 James Malone http://www.ebi.ac.uk/efo/EFO_0001830 anastrozole 120511-73-1 2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile) A 1,2,4-triazole compound having a 3,5-bis(2-cyano-2-propyl)benzyl group at the 1-position. Anastrozol C17H19N5 CC(C)(C#N)c1cc(Cn2cncn2)cc(c1)C(C)(C)C#N InChI=1/C17H19N5/c1-16(2,9-18)14-5-13(8-22-12-20-11-21-22)6-15(7-14)17(3,4)10-19/h5-7,11-12H,8H2,1-4H3 InChIKey=YBBLVLTVTVSKRW-UHFFFAOYAZ alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile typhasterol Class imported / merged by efoimporter uric acid 2,6,8-trihydroxypurine C5H4N4O3 ChemIDplus:69-93-2 Harnsaeure lithic acid true Vitamin D CHEBI_27300 Vitamin D is a group of fat-soluble prohormones, which can be obtained from sun exposure, food and supplements. Vitamin D is biologically inactive and converted to the biologically active calcicitriol via double hydroxilation in the body. http://www.ebi.ac.uk/efo/EFO_0001636 true vitamin D3 Zinc 30Zn A zinc group element atom that has formula Zn. A zinc group element that has formula Zn. CHEBI_27363 InChI=1/Zn InChIKey=HCHKCACWOHOZIP-UHFFFAOYAS James Malone Zink [Zn] cinc http://www.ebi.ac.uk/efo/EFO_0001638 zinc atom zincum tetrachloromethane Beilstein:1098295 CCl4 Carbon tetrachloride ChEMBL:167811 ChemIDplus:56-23-5 ClC(Cl)(Cl)Cl Class imported / merged by efoimporter Gmelin:2347 InChI=1S/CCl4/c2-1(3,4)5 InChIKey=VZGDMQKNWNREIO-UHFFFAOYSA-N KEGG COMPOUND:56-23-5 KEGG COMPOUND:C07561 Kohlenstofftetrachlorid NIST Chemistry WebBook:56-23-5 Tetra Tetrachlorkohlenstoff Tetrachlormethan Tetrachloromethane UM-BBD:c0486 Wikipedia:Carbon_Tetrachloride tetrachloridocarbon tetrachloromethane kinetin Class imported / merged by efoimporter methyltestosterone (17beta)-17-hydroxy-17-methylandrost-4-en-3-one 17(alpha)-methyl-Delta(4)-androsten-17(beta)-ol-3-one 17-beta-hydroxy-17-methylandrost-4-en-3-one 17-methyltestosterone 17alpha-methyl-3-oxo-4-androsten-17beta-ol 17alpha-methyl-Delta(4)-androsten-17beta-ol-3-one 17alpha-methyltestosterone 17beta-hydroxy-17-methylandrost-4-en-3-one 4-androstene-17alpha-methyl-17beta-ol-3-one Android C20H30O2 ChEMBL:428400 ChemIDplus:58-18-4 CiteXplore:19199316 Class imported / merged by efoimporter DrugBank:DB06710 InChI=1S/C20H30O2/c1-18-9-6-14(21)12-13(18)4-5-15-16(18)7-10-19(2)17(15)8-11-20(19,3)22/h12,15-17,22H,4-11H2,1-3H3/t15-,16+,17+,18+,19+,20+/m1/s1 InChIKey=GCKMFJBGXUYNAG-HLXURNFRSA-N KEGG COMPOUND:58-18-4 KEGG COMPOUND:C07198 KEGG DRUG:D00408 Methyltestosterone NSC-9701 Patent:US2374369 Patent:US2374370 Patent:US2384355 Patent:US2386331 Patent:US2435013 Reaxys:2057425 Testred Virilon [H][C@@]12CCC3=CC(=O)CC[C@]3(C)[C@@]1([H])CC[C@@]1(C)[C@@]2([H])CC[C@]1(C)O methyltestosterone methyltestosteronum metiltestosterona folic acid Beilstein:100781 C19H19N7O6 ChEMBL:18788725 ChemIDplus:59-30-3 CiteXplore:17784727 FOLIC ACID Folate Folic acid Folsaeure InChI=1S/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s1 InChIKey=OVBPIULPVIDEAO-LBPRGKRZSA-N KEGG COMPOUND:59-30-3 KEGG COMPOUND:C00504 MetaCyc:CPD-12826 N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid N-pteroyl-L-glutamic acid NIST Chemistry WebBook:59-30-3 Nc1nc2ncc(CNc3ccc(cc3)C(=O)N[C@@H](CCC(O)=O)C(O)=O)nc2c(=O)[nH]1 PDBeChem:FOL PGA PteGlu Pteroylglutamic acid Wikipedia:Folic_Acid pteroyl-L-glutamic acid pteroyl-L-monoglutamic acid true vitamin Bc vitamin M mitomycin C (H115D)VHL35 (H115D)VHL35 Peptide 20898 50-07-7 7-Amino-9alpha-methoxymitosane 898 A mitomycin that has formula C15H18N4O5. A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04) Ametycine C15H18N4O5 C15H18N4O5 C15[accessedResource: C15H18N4O5][accessDate: 05-04-2011] Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse. Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H18N4O5][accessDate: 05-04-2011] InChI=1/C15H18N4O5/c1-5-9(16)12(21)8-6(4-24-14(17)22)15(23-2)13-7(18-13)3-19(15)10(8)11(5)20/h6-7,13,18H,3-4,16H2,1-2H3,(H2,17,22)/t6-,7+,13+,15-/m1/s1/f/h17H2 InChIKey=NWIBSHFKIJFRCO-XPNHIKBZDF MMC Mitocin-C Mitomycin Mutamycin Onzin Onzin[accessedResource: C15H18N4O5][accessDate: 05-04-2011] PLAC8 wt Allele PLAC8 wt Allele[accessedResource: C15H18N4O5][accessDate: 05-04-2011] Placenta-Specific 8 wt Allele Placenta-Specific 8 wt Allele[accessedResource: C15H18N4O5][accessDate: 05-04-2011] [(1aS,8S,8aR,8bS)-6-amino-8a-methoxy-5-methyl-4,7-dioxo-1,1a,2,4,7,8,8a,8b-octahydroazireno[2',3':3,4]pyrrolo[1,2-a]indol-8-yl]methyl carbamate [(1aS,8S,8aR,8bS)-6-amino-8a-methoxy-5-methyl-4,7-dioxo-1,1a,2,4,7,8,8a,8b-octahydroazirino[2',3':3,4]pyrrolo[1,2-a]indol-8-yl]methyl carbamate [H][C@]12CN3C4=C([C@@H](COC(N)=O)[C@@]3(OC)[C@@]1([H])N2)C(=O)C(N)=C(C)C4=O oxirane 1,2-Epoxyaethan 1,2-epoxyethane Aethylenoxid Amprolene Anprolene Anproline Beilstein:102378 C1CO1 C2H4O ChEBI:c0527 ChEMBL:1222089 ChemIDplus:75-21-8 CiteXplore:3932500 Class imported / merged by efoimporter Dihydrooxirene Dimethylene oxide ETO Ethylene oxide Gmelin:676 InChI=1S/C2H4O/c1-2-3-1/h1-2H2 InChIKey=IAYPIBMASNFSPL-UHFFFAOYSA-N KEGG COMPOUND:75-21-8 KEGG COMPOUND:C06548 NIST Chemistry WebBook:75-21-8 Oxacyclopropane Oxane Oxidoethane Oxyfume epoxyethane ethene oxide oxirane oxyde d'ethylene arsenic 23886 33As 3886 7440-38-2 A pnictogen that has formula As. Arsen As InChI=1/As InChIKey=RQNWIZPPADIBDY-UHFFFAOYAR [As] arsenic arsenic atom arsenico arsenicum selenium 34Se A chalcogen that has formula Se. CHEBI_27568 InChI=1/Se InChIKey=BUGBHKTXTAQXES-UHFFFAOYAK James Malone Selen [Se] http://www.ebi.ac.uk/efo/EFO_0001610 selenio selenium atom silicon 14Si A carbon group element atom that has formula Si. A carbon group element that has formula Si. Ele Holloway InChI=1/Si InChIKey=XUIMIQQOPSSXEZ-UHFFFAOYAB James Malone Jie Zheng MO_382 Si Silizium Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#silicon http://www.ebi.ac.uk/efo/EFO_0002420 silicio silicium silicon atom aldosterone (11beta)-11,21-dihydroxy-3,20-dioxopregn-4-en-18-al 11beta,21-dihydroxy-3,20-dioxopregn-4-en-18-al A 18-oxo steroid that has formula C21H28O5. A pregnane-based steroidal hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. C21H28O5 CHEBI_27584 InChI=1/C21H28O5/c1-20-7-6-13(24)8-12(20)2-3-14-15-4-5-16(18(26)10-22)21(15,11-23)9-17(25)19(14)20/h8,11,14-17,19,22,25H,2-7,9-10H2,1H3/t14-,15-,16+,17-,19+,20-,21+/m0/s1 InChIKey=PQSUYGKTWSAVDQ-ZVIOFETBBV [H][C@@]1(CC[C@@]2([H])[C@]3([H])CCC4=CC(=O)CC[C@]4(C)[C@@]3([H])[C@@H](O)C[C@]12C=O)C(=O)CO http://www.ebi.ac.uk/efo/EFO_0001479 carbon 6C 7440-44-0 A carbon group element atom that has formula C. C InChI=1/C InChIKey=OKTJSMMVPCPJKN-UHFFFAOYAS Kohlenstoff carbon atom carbone carbonium carbono monensin A (2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid C36H62O11 CiteXplore:21215424 Class imported / merged by efoimporter InChI=1S/C36H62O11/c1-10-34(31-20(3)16-26(43-31)28-19(2)15-21(4)36(41,18-37)46-28)12-11-27(44-34)33(8)13-14-35(47-33)17-25(38)22(5)30(45-35)23(6)29(42-9)24(7)32(39)40/h19-31,37-38,41H,10-18H2,1-9H3,(H,39,40)/t19-,20-,21+,22+,23-,24-,25-,26+,27+,28-,29+,30-,31+,33-,34-,35+,36-/m0/s1 InChIKey=GAOZTHIDHYLHMS-KEOBGNEYSA-N KEGG COMPOUND:17090-79-8 KEGG COMPOUND:C06693 KEGG DRUG:D08228 Monensin Reaxys:1633130 [H][C@@]1(C[C@H](C)[C@@]([H])(O1)[C@]1(CC)CC[C@@]([H])(O1)[C@]1(C)CC[C@]2(C[C@H](O)[C@@H](C)[C@]([H])(O2)[C@@H](C)[C@@H](OC)[C@H](C)C(O)=O)O1)[C@@]1([H])O[C@@](O)(CO)[C@H](C)C[C@@H]1C monensic acid monensin monensina monensinum cycloheximide (H115D)VHL35 (H115D)VHL35 Peptide 24882 3-((R)-2-((1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl)-2-hydroxyethyl)glutarimide 4-{(2R)-2-[(1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl]-2-hydroxyethyl}piperidine-2,6-dione 4-{(2R)-2-[(1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl]-2-hydroxyethyl}piperidine-2,6-dione 4882 66-81-9 A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04) A piperidine antibiotic that has formula C15H23NO4. C15H23NO4 C15H23NO4 C15[accessedResource: C15H23NO4][accessDate: 05-04-2011] CHX Cycloheximid Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse. Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H23NO4][accessDate: 05-04-2011] InChI=1/C15H23NO4/c1-8-3-9(2)15(20)11(4-8)12(17)5-10-6-13(18)16-14(19)7-10/h8-12,17H,3-7H2,1-2H3,(H,16,18,19)/t8-,9-,11-,12+/m0/s1/f/h16H InChIKey=YPHMISFOHDHNIV-RFQUBMFVDL Onzin Onzin[accessedResource: C15H23NO4][accessDate: 05-04-2011] PLAC8 wt Allele PLAC8 wt Allele[accessedResource: C15H23NO4][accessDate: 05-04-2011] Placenta-Specific 8 wt Allele Placenta-Specific 8 wt Allele[accessedResource: C15H23NO4][accessDate: 05-04-2011] Zykloheximid [H][C@]1(C[C@@H](C)C[C@H](C)C1=O)[C@H](O)CC1CC(=O)NC(=O)C1 cicloheximida cicloheximidum camptothecin (4S)-4-ethyl-4-hydroxy-1H-pyrano[3',4':6,7]indolizino[1,2-b]quinoline-3,14(4H,12H)-dione (S)-(+)-camptothecin 20(S)-camptothecine 21,22-Secocamptothecin-21-oic acid lactone A pyranoindolizinoquinoline that has formula C20H16N2O4. C20H16N2O4 CC[C@@]1(O)C(=O)OCc2c1cc1-c3nc4ccccc4cc3Cn1c2=O CHEBI_27656 CPT Camptothecine D-camptothecin InChI=1/C20H16N2O4/c1-2-20(25)14-8-16-17-12(7-11-5-3-4-6-15(11)21-17)9-22(16)18(23)13(14)10-26-19(20)24/h3-8,25H,2,9-10H2,1H3/t20-/m0/s1 InChIKey=VSJKWCGYPAHWDS-FQEVSTJZBY James Malone http://www.ebi.ac.uk/efo/EFO_0001498 aphidicolin (3R,4R,4aR,6aS,8R,9R,11aS,11bS)-4,9-bis(hydroxymethyl)-4,11b-dimethyltetradecahydro-8,11a-methanocyclohepta[a]naphthalene-3,9-diol Aphidicolin C20H34O4 ChEMBL:139198 ChemIDplus:38966-21-1 ChemIDplus:4689958 CiteXplore:19735659 CiteXplore:21212237 CiteXplore:21444690 CiteXplore:21708134 CiteXplore:21812410 CiteXplore:21897020 CiteXplore:21917855 CiteXplore:22139884 CiteXplore:22210918 CiteXplore:22262459 CiteXplore:22293751 CiteXplore:22302683 CiteXplore:22339690 CiteXplore:22365495 Class imported / merged by efoimporter Ele Holloway InChI=1S/C20H34O4/c1-17(11-21)15-4-3-13-9-14-10-19(13,7-8-20(14,24)12-22)18(15,2)6-5-16(17)23/h13-16,21-24H,3-12H2,1-2H3/t13-,14+,15-,16+,17-,18-,19-,20-/m0/s1 InChIKey=NOFOAYPPHIUXJR-APNQCZIXSA-N James Malone KEGG COMPOUND:38966-21-1 KEGG COMPOUND:C06088 MetaCyc:CPD-11426 Patent:US3761512 Reaxys:2055641 Tomasz Adamusiak Wikipedia:Aphidicolin [H][C@@]12CC[C@@]3([H])[C@](C)(CO)[C@H](O)CC[C@]3(C)[C@]11CC[C@](O)(CO)[C@H](C2)C1 http://www.ebi.ac.uk/efo/EFO_0003207 actinomycin D 2-amino-4,6-dimethyl-3-oxo-1-N,9-N-bis-[(18aS)-10c,14,17-trimethyl-5,8,12,15,18-pentaoxo-6c,13t-di(propan-2-yl)-18ar-hexadecahydro-1H-pyrrolo[2,1-i][1,4,7,10,13]oxatetraazacyclohexadecin-9c-yl]-3H-phenoxazine-1,9-dicarboxamide 2-amino-N,N'-bis(hexadecahydro-2,5,9-trimethyl-6,13-bis(1-methylethyl)-1,4,7,11,14-pentaoxo-1H-pyrrolo(2,1-i)(1,4,7,10,13)oxatetra-azacyclohexadecin-10-yl)-4,6-dimethyl-3-oxo-3H-phenoxazine-1,9-dicarboxamide ActD An actinomycin that has formula C62H86N12O16. C62H86N12O16 CHEBI_27666 Dactinomycin InChI=1/C62H86N12O16/c1-27(2)42-59(84)73-23-17-19-36(73)57(82)69(13)25-38(75)71(15)48(29(5)6)61(86)88-33(11)44(55(80)65-42)67-53(78)35-22-21-31(9)51-46(35)64-47-40(41(63)50(77)32(10)52(47)90-51)54(79)68-45-34(12)89-62(87)49(30(7)8)72(16)39(76)26-70(14)58(83)37-20-18-24-74(37)60(85)43(28(3)4)66-56(45)81/h21-22,27-30,33-34,36-37,42-45,48-49H,17-20,23-26,63H2,1-16H3,(H,65,80)(H,66,81)(H,67,78)(H,68,79)/t33-,34-,36+,37+,42-,43-,44+,45+,48+,49+/m1/s1/f/h65-68H InChIKey=RJURFGZVJUQBHK-HQANWYOLDQ James Malone [H][C@@]12CCCN1C(=O)[C@H](NC(=O)[C@@H](NC(=O)c1ccc(C)c3oc4c(C)c(=O)c(N)c(C(=O)N[C@H]5[C@@H](C)OC(=O)[C@H](C(C)C)N(C)C(=O)CN(C)C(=O)[C@]6([H])CCCN6C(=O)[C@H](NC5=O)C(C)C)c4nc13)[C@@H](C)OC(=O)[C@H](C(C)C)N(C)C(=O)CN(C)C2=O)C(C)C actinomycin C1 actinomycin IV http://www.ebi.ac.uk/efo/EFO_0001478 acetazolamide 2-acetylamino-1,3,4-thiadiazole-5-sulfonamide 5-ACETAMIDO-1,3,4-THIADIAZOLE-2-SULFONAMIDE 5-acetylamino-1,3,4-thiadiazole-2-sulfonamide Acetazolamide Beilstein:212994 C4H6N4O3S2 CC(=O)Nc1nnc(s1)S(N)(=O)=O ChEMBL:101125 ChemIDplus:59-66-5 Class imported / merged by efoimporter Defiltran Diacarb Diamox Diluran DrugBank:DB00819 Glaupax Gmelin:365421 InChI=1S/C4H6N4O3S2/c1-2(9)6-3-7-8-4(12-3)13(5,10)11/h1H3,(H2,5,10,11)(H,6,7,9) InChIKey=BZKPWHYZMXOIDC-UHFFFAOYSA-N KEGG COMPOUND:59-66-5 KEGG COMPOUND:C06805 KEGG DRUG:D00218 N-(5-sulfamoyl-1,3,4-thiadiazol-2-yl)acetamide N-[5-(aminosulfonyl)-1,3,4-thiadiazol-2-yl]acetamide N-[5-(aminosulfonyl)-1,3,5-thiadiazol-2-yl]acetamide NIST Chemistry WebBook:59-66-5 PDBeChem:AZM Patent:US2554816 Wikipedia:Acetazolamide acetazolamida acetazolamide acetazolamidum Vanadium 23V A vanadium group element atom that has formula V. A vanadium group element that has formula V. CHEBI_27698 InChI=1/V InChIKey=LEONUFNNVUYDNQ-UHFFFAOYAR James Malone [V] http://www.ebi.ac.uk/efo/EFO_0001635 vanadio vanadium atom caffeine 1,3,7-trimethyl-2,6-dioxopurine 1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione 1,3,7-trimethylpurine-2,6-dione 1,3,7-trimethylxanthine 1-methyltheobromine 3,7-Dihydro-1,3,7-trimethyl-1H-purin-2,6-dion 58-08-2 7-methyltheophylline A trimethylxanthine that has formula C8H10N4O2. C8H10N4O2 Cn1cnc2n(C)c(=O)n(C)c(=O)c12 Coffein InChI=1/C8H10N4O2/c1-10-4-9-6-5(10)7(13)12(3)8(14)11(6)2/h4H,1-3H3 InChIKey=RYYVLZVUVIJVGH-UHFFFAOYAW Koffein MSH:D002110 Thein anhydrous caffeine cafeina cafeine guaranine mateina methyltheobromine teina theine true glyphosate 1071-83-6 24122 4122 A phosphonic acid that has formula C3H8NO5P. C3 Gene C3 Gene[accessedResource: C3H8NO5P][accessDate: 05-04-2011] C3H8NO5P C3H8NO5P C3[accessedResource: C3H8NO5P][accessDate: 05-04-2011] Complement Component 3 Gene Complement Component 3 Gene[accessedResource: C3H8NO5P][accessDate: 05-04-2011] InChI=1/C3H8NO5P/c5-3(6)1-4-2-10(7,8)9/h4H,1-2H2,(H,5,6)(H2,7,8,9)/f/h5,7-8H InChIKey=XDDAORKBJWWYJS-JYGMYEITCW N-(phosphonomethyl)glycine OC(=O)CNCP(O)(O)=O This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H8NO5P][accessDate: 05-04-2011] [(phosphonomethyl)amino]acetic acid griseofulvin (+)-griseofulvin (2S,6'R)-7-chloro-2',4,6-trimethoxy-6'-methyl-3H,4'H-spiro[1-benzofuran-2,1'-cyclohex[2]ene]-3,4'-dione Beilstein:95226 C17H17ClO6 COc1cc(OC)c2C(=O)[C@]3(Oc2c1Cl)[C@H](C)CC(=O)C=C3OC ChEMBL:116303 ChemIDplus:126-07-8 Class imported / merged by efoimporter Curling factor DrugBank:DB00400 Fulcin Fulvicin Grifulvin Grisactin Griseofulvin Grisovin Grysio InChI=1S/C17H17ClO6/c1-8-5-9(19)6-12(23-4)17(8)16(20)13-10(21-2)7-11(22-3)14(18)15(13)24-17/h6-8H,5H2,1-4H3/t8-,17+/m1/s1 InChIKey=DDUHZTYCFQRHIY-RBHXEPJQSA-N KEGG COMPOUND:126-07-8 KEGG COMPOUND:C06686 KEGG DRUG:D00209 LIPID MAPS:LMPK13060001 Lamoryl Likuden NIST Chemistry WebBook:126-07-8 Patent:US3069328 Patent:US3069329 Poncyl Spirofulvin Sporostatin Wikipedia:Griseofulvin amudane griseofulvin griseofulvina griseofulvine griseofulvinum detergent role A surfactant (or a mixture containing one or more surfactants) having cleaning properties in dilute solutions. Dani Welter resveratrol 3,4',5-Trihydroxystilbene 5-[2-(4-hydroxyphenyl)ethenyl]benzene-1,3-diol A stilbenol that has formula C14H12O3. C14H12O3 CHEBI_27881 Ele Holloway InChI=1/C14H12O3/c15-12-5-3-10(4-6-12)1-2-11-7-13(16)9-14(17)8-11/h1-9,15-17H InChIKey=LUKBXSAWLPMMSZ-UHFFFAOYAJ James Malone [H]C(=C([H])c1cc(O)cc(O)c1)c1ccc(O)cc1 http://www.ebi.ac.uk/efo/EFO_0002419 cisplatin (SP-4-2)-diamminedichloridoplatinum (SP-4-2)-diamminedichloroplatinum Briplatin ChEMBL:428069 ChemIDplus:15663-27-1 Cismaplat Cisplatin Cl2H6N2Pt Class imported / merged by efoimporter DrugBank:DB00515 Gmelin:2519 H6Cl2N2Pt InChI=1S/2ClH.2H3N.Pt/h2*1H;2*1H3;/q;;;;+2/p-2 InChIKey=LXZZYRPGZAFOLE-UHFFFAOYSA-L James Malone KEGG COMPOUND:15663-27-1 KEGG COMPOUND:C06911 KEGG DRUG:D00275 Lederplatin MolBase:25 Neoplatin Patent:DE2318020 Patent:DE2329485 Peyrone's chloride Peyrone's salt Platamine Platinex Platinol Randa [H][N]([H])([H])[Pt](Cl)(Cl)[N]([H])([H])[H] cis-DDP cis-[PtCl2(NH3)2] cis-diamminedichloridoplatinum(II) cis-diamminedichloroplatinum cis-diamminedichloroplatinum(II) cis-diammineplatinum(II) dichloride cis-dichlorodiammineplatinum(II) cisplatin cisplatine cisplatino cisplatinum http://www.ebi.ac.uk/efo/EFO_0001507 tetracycline (4S,4aS,5aS,12aS)-4-(Dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-2-naphthacenecarboxamide (4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide (4S,4aS,5aS,6S,12aS)-4-(dimethylamino)-3,6,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide 23645 3645 60-54-8 A broad-spectrum polyketide antibiotic produced by the Streptomyces genus of actinobacteria. A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration. A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H24N2O8][accessDate: 05-04-2011] Abramycin Anhydrotetracycline Brassidic Acid Brassidic Acid[accessedResource: C22H24N2O8][accessDate: 05-04-2011] C22:1, n-9 trans C22:1, n-9 trans[accessedResource: C22H24N2O8][accessDate: 05-04-2011] C22H24N2O8 C22H24N2O8 Deschlorobiomycin Fatty Acid 22:1 n-9 trans Fatty Acid 22:1 n-9 trans[accessedResource: C22H24N2O8][accessDate: 05-04-2011] Fatty Acid trans 22:1 n-9 Fatty Acid trans 22:1 n-9[accessedResource: C22H24N2O8][accessDate: 05-04-2011] InChI=1/C22H24N2O8/c1-21(31)8-5-4-6-11(25)12(8)16(26)13-9(21)7-10-15(24(2)3)17(27)14(20(23)30)19(29)22(10,32)18(13)28/h4-6,9-10,15,25,27-28,31-32H,7H2,1-3H3,(H2,23,30)/t9-,10-,15-,21+,22-/m0/s1/f/h23H2 InChIKey=OFVLGDICTFRJMM-PZOPXDMEDB Liquamycin Tetracyclin Tetrazyklin Trans docos-13-enoic Acid Trans docos-13-enoic Acid[accessedResource: C22H24N2O8][accessDate: 05-04-2011] Tsiklomitsin [H][C@@]12C[C@@]3([H])C(C(=O)c4c(O)cccc4[C@@]3(C)O)=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@H]2N(C)C tetracyclinum cocaine (1R,2R,3S,5S)-2-(methoxycarbonyl)tropan-3-yl benzoate 2-methyl-3beta-hydroxy-1alphaH,5alphaH-tropane-2beta-carboxylate benzoate (ester) 50-36-2 An alkaloid obtained from leaves of the South American shrub Erythroxylon coca. Benzoylmethylecgonine C17H21NO4 Cocain Cocaina InChI=1/C17H21NO4/c1-18-12-8-9-13(18)15(17(20)21-2)14(10-12)22-16(19)11-6-4-3-5-7-11/h3-7,12-15H,8-10H2,1-2H3/t12-,13+,14-,15+/m0/s1 InChIKey=ZPUCINDJVBIVPJ-LJISPDSOBK Kokain Neurocaine [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylic acid, methyl ester [H][C@]12CC[C@]([H])([C@H]([C@H](C1)OC(=O)c1ccccc1)C(=O)OC)N2C beta-Cocain cocainum l-Cocain l-cocaine methyl (1R,2R,3S,5S)-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate methyl [1R-(exo,exo)]-3-(benzoyloxy)-8-methyl-8-azabicyclo[3.2.1]octane-2-carboxylate methyl benzoylecgonine 3-methylbenzyl alcohol (3-methylphenyl)methanol 19497 39497 567-03-1 C8H10O CP25 CP25[accessedResource: C8H10O][accessDate: 05-04-2011] Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI) HHO.C8 HHO.C8[accessedResource: C8H10O][accessDate: 05-04-2011] HOX3C HOX3C[accessedResource: C8H10O][accessDate: 05-04-2011] HOXC6 HOXC6[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein 3C Homeobox Protein 3C[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein C6 Homeobox Protein C6[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein C8 Homeobox Protein C8[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein CP25 Homeobox Protein CP25[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein HHO.C8 Homeobox Protein HHO.C8[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein HOXC6 Homeobox Protein HOXC6[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein Hox-3C Homeobox Protein Hox-3C[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox Protein Hox-C6 Homeobox Protein Hox-C6[accessedResource: C8H10O][accessDate: 05-04-2011] Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development. Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H10O][accessDate: 05-04-2011] tolbutamide 1-Butyl-3-(p-methylphenylsulfonyl)urea 1-Butyl-3-(p-tolylsulfonyl)urea 1-Butyl-3-tosylurea An urea that has formula C12H18N2O3S. C12H18N2O3S CCCCNC(=O)NS(=O)(=O)c1ccc(C)cc1 CHEBI_27999 InChI=1/C12H18N2O3S/c1-3-4-9-13-12(15)14-18(16,17)11-7-5-10(2)6-8-11/h5-8H,3-4,9H2,1-2H3,(H2,13,14,15)/f/h13-14H InChIKey=JLRGJRBPOGGCBT-KGCNKATMCC N-(4-Methylphenylsulfonyl)-N'-butylurea N-Butyl-N'-(4-methylphenylsulfonyl)urea N-Butyl-N'-(p-tolylsulfonyl)urea N-[(butylamino)carbonyl]-4-methylbenzenesulfonamide N-n-Butyl-N'-tosylurea Orinase (TN) http://www.ebi.ac.uk/efo/EFO_0001626 vancomycin (1S,2R,18R,19R,22S,25R,28R,40R)-48-{[(2S,3R,4S,5S,6R)-3-{[(2S,4S,6S)-4-amino-5-hydroxy-4,6-dimethyltetrahydro-2H-pyran-2-yl]oxy}-4,5-dihydroxy-6-(hydroxymethyl)tetrahydro-2H-pyran-2-yl]oxy}-22-(2-amino-2-oxoethyl)-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-{[(2R)-4-methyl-2-(methylamino)pentanoyl]amino}-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.23,6.214,17.18,12.129,33.010,25.034,39]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylic acid (1S,2R,18R,22S,25R,28R,40S)-22-(2-amino-2-oxoethyl)-48-[2-O-(3-amino-2,3,6-trideoxy-3-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-5,15-dichloro-2,18,32,35,37-pentahydroxy-19-[(N-methyl-D-leucyl)amino]-20,23,26,42,44-pentaoxo-7,13-dioxa-21,24,27,41,43-pentaazaoctacyclo[26.14.2.2(3,6).2(14,17).1(8,12).1(29,33).0(10,25).0(34,39)]pentaconta-3,5,8(48),9,11,14,16,29(45),30,32,34,36,38,46,49-pentadecaene-40-carboxylic acid (2.2Sp,3.5Sa,2.6Sp)-O(4.2),C(3.4):C(5.4),O(4.6):C(3.5),C(2.7)-tricyclo[N-methyl-D-leucyl-3-chloro-(R)-beta-hydroxy-D-tyrosyl-L-asparaginyl-D-2-(4-{[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyl]oxy}phenyl)glycyl-D-2-(4-hydroxyphenyl)glycyl-3-chloro-(R)-beta-hydroxy-L-tyrosyl-L-2-(3,5-dihydroxyphenyl)glycine] (3S,6R,7R,11R,23S,26S,30aS,36R,38aR)-44-[2-O-(3-amino-2,3,6-trideoxy-3-C-methyl-alpha-L-lyxo-hexopyranosyl)-beta-D-glucopyranosyloxy]-3-(carbamoylmethyl)-10,19-dichloro-2,3,4,5,6,7,23,25,26,36,37,38,38a-tetradecahydro-7,22,28,30,32-pentahydroxy-6-(N-methyl-D-leucyl)-2,5,24,38,39-pentaoxo-1H,22H-23,36-(epiminomethano)-8,11:18,21-dietheno-13,16:31,35-di(metheno)[1,6,9]oxadiazacyclohexadecino[4,5-m][10,2,16]benzoxadiazacyclotetracosine-26-carboxylic acid 1404-90-6 22664 42664 A complex glycopeptide from Streptomyces orientalis. It inhibits a specific step in the synthesis of the peptidoglycan layer in the Gram-positive bacteria Staphylococcus aureus and Clostridium difficile. Abutment Abutment[accessedResource: C66H75Cl2N9O24][accessDate: 05-04-2011] C66H75Cl2N9O24 C66H75Cl2N9O24 CN[C@H](CC(C)C)C(=O)N[C@@H]1[C@H](O)c2ccc(Oc3cc4cc(Oc5ccc(cc5Cl)[C@@H](O)[C@@H]5NC(=O)[C@H](NC(=O)[C@@H]4NC(=O)[C@H](CC(N)=O)NC1=O)c1ccc(O)c(c1)-c1c(O)cc(O)cc1[C@H](NC5=O)C(O)=O)c3O[C@@H]1O[C@H](CO)[C@@H](O)[C@H](O)[C@H]1O[C@H]1C[C@](C)(N)[C@H](O)[C@H](C)O1)c(Cl)c2 InChI=1/C66H75Cl2N9O24/c1-23(2)12-34(71-5)58(88)76-49-51(83)26-7-10-38(32(67)14-26)97-40-16-28-17-41(55(40)101-65-56(54(86)53(85)42(22-78)99-65)100-44-21-66(4,70)57(87)24(3)96-44)98-39-11-8-27(15-33(39)68)52(84)50-63(93)75-48(64(94)95)31-18-29(79)19-37(81)45(31)30-13-25(6-9-36(30)80)46(60(90)77-50)74-61(91)47(28)73-59(89)35(20-43(69)82)72-62(49)92/h6-11,13-19,23-24,34-35,42,44,46-54,56-57,65,71,78-81,83-87H,12,20-22,70H2,1-5H3,(H2,69,82)(H,72,92)(H,73,89)(H,74,91)(H,75,93)(H,76,88)(H,77,90)(H,94,95)/t24-,34+,35-,42+,44-,46+,47+,48-,49+,50-,51+,52+,53+,54-,56+,57+,65-,66-/m0/s1/f/h72-77,94H,69H2 InChIKey=MYPYJXKWCTUITO-GOYUGWFFDN The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis. The tooth, teeth, or implant that supports a fixed bridge or removable prosthesis.[accessedResource: C66H75Cl2N9O24][accessDate: 05-04-2011] Vancocin vancomicina vancomycine vancomycinum phenylalanine 2-amino-3-phenylpropanoic acid Beilstein:1910407 C9H11NO2 ChemIDplus:150-30-1 Gmelin:50836 InChI=1S/C9H11NO2/c10-8(9(11)12)6-7-4-2-1-3-5-7/h1-5,8H,6,10H2,(H,11,12) InChIKey=COLNVLDHVKWLRT-UHFFFAOYSA-N KEGG COMPOUND:C02057 NC(Cc1ccccc1)C(O)=O NIST Chemistry WebBook:150-30-1 Phenylalanin Phenylalanine alpha-Amino-beta-phenylpropionic acid fenilalanina true chromium 24Cr A chromium group element atom that has formula Cr. A chromium group element that has formula Cr. CHEBI_28073 Chrom InChI=1/Cr InChIKey=VYZAMTAEIAYCRO-UHFFFAOYAB James Malone [Cr] chrome chromium atom cromo http://www.ebi.ac.uk/efo/EFO_0001505 rifampicin (7S,9E,11S,12R,13S,14R,15R,16R,17S,18S,19E,21Z)-2,15,17,27,29-pentahydroxy-11-methoxy-3,7,12,14,16,18,22-heptamethyl-26-{(E)-[(4-methylpiperazin-1-yl)imino]methyl}-6,23-dioxo-8,30-dioxa-24-azatetracyclo[23.3.1.1(4,7).0(5,28)]triaconta-1(28),1(29),2,4,9,19,21,25,27-nonaen-13-yl acetate 13292-46-1 3-(((4-Methyl-1-piperazinyl)imino)methyl)rifamycin SV A N-iminopiperazine that has formula C43H58N4O12. C43H58N4O12 CO[C@H]1\\C=C\\O[C@@]2(C)Oc3c(C)c(O)c4c(O)c(NC(=O)\\C(C)=C/C=C/[C@H](C)[C@H](O)[C@@H](C)[C@@H](O)[C@@H](C)[C@H](OC(C)=O)[C@@H]1C)c(\\C=N\\N1CCN(C)CC1)c(O)c4c3C2=O InChI=1/C43H58N4O12/c1-21-12-11-13-22(2)42(55)45-33-28(20-44-47-17-15-46(9)16-18-47)37(52)30-31(38(33)53)36(51)26(6)40-32(30)41(54)43(8,59-40)57-19-14-29(56-10)23(3)39(58-27(7)48)25(5)35(50)24(4)34(21)49/h11-14,19-21,23-25,29,34-35,39,49-53H,15-18H2,1-10H3,(H,45,55)/b12-11+,19-14+,22-13-,44-20+/t21-,23+,24+,25+,29-,34-,35+,39+,43-/m0/s1/f/h45H InChIKey=JQXXHWHPUNPDRT-SUOBQDSDDO RFP Rifampin rifampicina rifampicinum genistein 4',5,7-trihydroxyisoflavone 5,7-dihydroxy-3-(4-hydroxyphenyl)-4H-chromen-4-one A hydroxyisoflavone that has formula C15H10O5. A phytoestrogenic isoflavone with antioxidant properties. C15H10O5 CHEBI_28088 InChI=1/C15H10O5/c16-9-3-1-8(2-4-9)11-7-20-13-6-10(17)5-12(18)14(13)15(11)19/h1-7,16-18H InChIKey=TZBJGXHYKVUXJN-UHFFFAOYAH James Malone Oc1ccc(cc1)-c1coc2cc(O)cc(O)c2c1=O Prunetol Sophoricol http://www.ebi.ac.uk/efo/EFO_0001542 2,3,7,8-tetrachlorodibenzodioxine 2,3,7,8-Tetrachlorodibenzo-p-dioxin 2,3,7,8-Tetrachlorodibenzodioxin 2,3,7,8-tetrachlorooxanthrene Beilstein:271116 C12H4Cl4O2 ChEMBL:143756 ChemIDplus:1746-01-6 Class imported / merged by efoimporter Clc1cc2Oc3cc(Cl)c(Cl)cc3Oc2cc1Cl Dioxin Gmelin:366537 InChI=1S/C12H4Cl4O2/c13-5-1-9-10(2-6(5)14)18-12-4-8(16)7(15)3-11(12)17-9/h1-4H InChIKey=HGUFODBRKLSHSI-UHFFFAOYSA-N KEGG COMPOUND:1746-01-6 KEGG COMPOUND:C07557 NIST Chemistry WebBook:1746-01-6 TCDD Tetrachlorodibenzodioxin Wikipedia:2,3,7,8-Tetrachlorodibenzo-P-Dioxin dioxine http://www.ebi.ac.uk/efo/EFO_0001470 tetradioxin docosahexaenoic acid (4Z,7Z,10Z,13Z,16Z,19Z)-Docosahexaenoic acid (4Z,7Z,10Z,13Z,16Z,19Z)-docosa-4,7,10,13,16,19-hexaenoic acid 22:6(n-3) 22:6-4, 7,10,13,16,19 4,7,10,13,16,19-Docosahexaenoic acid 4,7,10,13,16,19-docosahexaenoic acid Beilstein:1715505 C22H32O2 CC\\C=C/C\\C=C/C\\C=C/C\\C=C/C\\C=C/C\\C=C/CCC(O)=O ChEMBL:402932 ChemIDplus:6217-54-5 CiteXplore:12359365 CiteXplore:12538082 CiteXplore:18072818 CiteXplore:18220672 CiteXplore:21045096 Class imported / merged by efoimporter DHA DOCOSA-4,7,10,13,16,19-HEXAENOIC ACID Doconexent Docosahexaenoic acid InChI=1S/C22H32O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20-21-22(23)24/h3-4,6-7,9-10,12-13,15-16,18-19H,2,5,8,11,14,17,20-21H2,1H3,(H,23,24)/b4-3-,7-6-,10-9-,13-12-,16-15-,19-18- InChIKey=MBMBGCFOFBJSGT-KUBAVDMBSA-N KEGG COMPOUND:C06429 LIPID MAPS:LMFA01030185 PDBeChem:HXA all-cis-4,7,10,13,16,19-docosahexaenoic acid all-cis-DHA all-cis-docosa-4,7,10,13,16,19-hexaenoic acid cervonic acid http://www.ebi.ac.uk/efo/EFO_0001480 ponasterone A (22R)-2beta,3beta,14,20,22-pentahydroxy-5beta-cholest-7-en-6-one 25-Deoxycedysterone A 14alpha-hydroxy steroid that has formula C27H44O6. C27H44O6 CHEBI_28135 InChI=1/C27H44O6/c1-15(2)6-7-23(31)26(5,32)22-9-11-27(33)17-12-19(28)18-13-20(29)21(30)14-24(18,3)16(17)8-10-25(22,27)4/h12,15-16,18,20-23,29-33H,6-11,13-14H2,1-5H3/t16-,18-,20+,21-,22-,23+,24+,25+,26+,27+/m0/s1 InChIKey=PJYYBCXMCWDUAZ-JJJZTNILBL [H][C@]12CC[C@]3(C)[C@]([H])(CC[C@@]3(O)C1=CC(=O)[C@]1([H])C[C@@H](O)[C@@H](O)C[C@]21C)[C@@](C)(O)[C@H](O)CCC(C)C http://www.ebi.ac.uk/efo/EFO_0001594 theophylline 1,3-Dimethylxanthine 1,3-dimethyl-3,7-dihydro-1H-purine-2,6-dione 1,3-dimethyl-7H-purine-2,6-dione Beilstein:13463 C7H8N4O2 ChEMBL:481693 ChemIDplus:58-55-9 Class imported / merged by efoimporter Cn1c2nc[nH]c2c(=O)n(C)c1=O DrugBank:DB00277 Elixophyllin Gmelin:51226 InChI=1S/C7H8N4O2/c1-10-5-4(8-3-9-5)6(12)11(2)7(10)13/h3H,1-2H3,(H,8,9) InChIKey=ZFXYFBGIUFBOJW-UHFFFAOYSA-N KEGG COMPOUND:58-55-9 KEGG COMPOUND:C07130 KEGG DRUG:D00371 NIST Chemistry WebBook:58-55-9 PDBeChem:TEP Respbid THEOPHYLLINE Theo-Dur Theolair Theophyllin Theophylline Uniphyl Wikipedia:Theophylline theophylline theophylline anhydrous rotenone (-)-cis-rotenone (2R,6aS,12aS)-8,9-dimethoxy-2-(prop-1-en-2-yl)-1,2,12,12a-tetrahydrochromeno[3,4-b]furo[2,3-h]chromen-6(6aH)-one 5'beta-rotenone A chromenone that has formula C23H22O6. Barbasco C23H22O6 CHEBI_28201 Canex InChI=1/C23H22O6/c1-11(2)16-8-14-15(28-16)6-5-12-22(24)21-13-7-18(25-3)19(26-4)9-17(13)27-10-20(21)29-23(12)14/h5-7,9,16,20-21H,1,8,10H2,2-4H3/t16-,20-,21+/m1/s1 InChIKey=JUVIOZPCNVVQFO-HBGVWJBIBF James Malone Noxfire [2R-(2alpha,6aalpha,12aalpha)]-1,2,12,12a-tetrahydro-8,9-dimethoxy-2-(1-methylethenyl)[1]benzopyrano[3,4-b]furo[2,3-H][1]benzopyran-6(6aH)-one [H][C@@]1(Cc2c(O1)ccc1C(=O)[C@@]3([H])c4cc(OC)c(OC)cc4OC[C@@]3([H])Oc21)C(C)=C http://www.ebi.ac.uk/efo/EFO_0001606 methyl mercuric(II) chloride 115-09-3 20813 813 A chlorine molecular entity that has formula CH3ClHg. CH3ClHg CH3ClHg CH3HgCl C[Hg]Cl InChI=1/CH3.ClH.Hg/h1H3;1H;/q;;+1/p-1/fCH3.Cl.Hg/h;1h;/q;-1;m InChIKey=BABMCXWQNSQAOC-IMOFHULNCR MeHg MeHgCl Methylmercury chloride [HgClMe] chloro(methyl)mercury chloro(methyl)mercury chloromethylmercury mercury methyl chloride methylmercuric chloride monomethylmercury chloride dichloroacetate 13425-80-4 C2HCl2O2 InChI=1/C2H2Cl2O2/c3-1(4)2(5)6/h1H,(H,5,6)/p-1/fC2HCl2O2/q-1 InChIKey=JXTHNDFMNIQAHM-LUGZKVCACF [O-]C(=O)C(Cl)Cl dichloracetate dichloroacetate ion dichloroacetic acid ion(1-) papaverine Class imported / merged by efoimporter aristolochic acid 3,4-methylenedioxy-8-methoxy-10-nitro-1-phenanthrenecarboxylic acid 8-methoxy-6-nitrophenanthol (3,4-d) 1,3-dioxole-5-carboxylic acid 8-methoxy-6-nitrophenanthro[3,4-d][1,3]dioxole-5-carboxylic acid Aristolochic acid Aristolochic acid I C17H11NO7 COc1cccc2c1cc([N+]([O-])=O)c1c(cc3OCOc3c21)C(O)=O ChEMBL:250437 ChemIDplus:313-67-7 CiteXplore:21558304 CiteXplore:21719716 CiteXplore:22071594 CiteXplore:22118289 CiteXplore:22126455 CiteXplore:22245565 CiteXplore:22373701 Class imported / merged by efoimporter Ele Holloway InChI=1S/C17H11NO7/c1-23-12-4-2-3-8-9(12)5-11(18(21)22)14-10(17(19)20)6-13-16(15(8)14)25-7-24-13/h2-6H,7H2,1H3,(H,19,20) InChIKey=BBFQZRXNYIEMAW-UHFFFAOYSA-N James Malone KEGG COMPOUND:313-67-7 KEGG COMPOUND:C08469 Reaxys:345159 Tomasz Adamusiak Wikipedia:Aristolochic_acid aristolochic acid A aristolochic acid-I aristolochin http://www.ebi.ac.uk/efo/EFO_0003176 dimethyl sulfoxide (CH3)2SO (methanesulfinyl)methane Beilstein:506008 C2H6OS CS(C)=O ChEMBL:110009 ChemIDplus:67-68-5 CiteXplore:11350866 CiteXplore:15588915 CiteXplore:21426213 CiteXplore:22030943 Class imported / merged by efoimporter DIMETHYL SULFOXIDE DMSO Dimethyl sulfoxide Dimethylsulfoxid DrugBank:DB01093 Gmelin:1556 InChI=1S/C2H6OS/c1-4(2)3/h1-2H3 InChIKey=IAZDPXIOMUYVGZ-UHFFFAOYSA-N James Malone KEGG COMPOUND:67-68-5 KEGG COMPOUND:C11143 KEGG DRUG:D01043 NIST Chemistry WebBook:67-68-5 PDBeChem:DMS Reaxys:506008 S(O)Me2 UM-BBD:c0236 Wikipedia:Dimethyl_Sulfoxide dimethyl sulfoxide dimethyl sulfur oxide dimethyl sulphoxide dimethyli sulfoxidum dimethylsulfoxyde dimetil sulfoxido dmso http://www.ebi.ac.uk/efo/EFO_0001523 methylsulfinylmethane sulfinylbis(methane) brassinolide (22R,23R)-2alpha,3alpha,22,23-tetrahydroxy-6,7-seco-5alpha-campestano-6,7-lactone (22R,23R)-2alpha,3alpha,22,23-tetrahydroxy-7a-homo-7-oxa-5alpha-campestan-6-one A 2alpha-hydroxy steroid that has formula C28H48O6. A brassinosteroid that has formula C28H48O6. C28H48O6 CHEBI_28277 Ele Holloway InChI=1/C28H48O6/c1-14(2)15(3)24(31)25(32)16(4)18-7-8-19-17-13-34-26(33)21-11-22(29)23(30)12-28(21,6)20(17)9-10-27(18,19)5/h14-25,29-32H,7-13H2,1-6H3/t15-,16-,17-,18+,19-,20-,21+,22-,23+,24+,25+,27+,28+/m0/s1 InChIKey=IXVMHGVQKLDRKH-KNBKMWSGBW James Malone [H][C@@]1(CC[C@@]2([H])[C@]3([H])COC(=O)[C@@]4([H])C[C@H](O)[C@H](O)C[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)[C@@H](O)[C@H](O)[C@@H](C)C(C)C http://www.ebi.ac.uk/efo/EFO_0002401 oligomycin A CHEBI_28285 http://www.ebi.ac.uk/efo/EFO_0001585 glutamine 2,5-diamino-5-oxopentanoic acid 2-Aminoglutaramic acid 2-amino-4-carbamoylbutanoic acid An alpha-amino acid that has formula C5H10N2O3. C5H10N2O3 CHEBI_28300 Glutamin Glutaminsaeure-5-amid Hgln InChI=1/C5H10N2O3/c6-3(5(9)10)1-2-4(7)8/h3H,1-2,6H2,(H2,7,8)(H,9,10)/f/h9H,7H2 InChIKey=ZDXPYRJPNDTMRX-HDAMEQSMCZ NC(CCC(N)=O)C(O)=O glutamic acid gamma-amide http://www.ebi.ac.uk/efo/EFO_0001546 all-cis-icosa-5,8,11,14,17-pentaenoic acid (5Z,8Z,11Z,14Z,17Z)-5,8,11,14,17-eicosapentaenoic acid (5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoate (5Z,8Z,11Z,14Z,17Z)-Eicosapentaenoic acid (5Z,8Z,11Z,14Z,17Z)-Icosapentaenoic acid (5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid (5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid (all-Z)-5,8,11,14,17-eicosapentaenoic acid 10417-94-4 11-Eicosenoic Acid 11-Eicosenoic Acid[accessedResource: C20H30O2][accessDate: 05-04-2011] 21023 41023 5,8,11,14,17-EICOSAPENTAENOIC ACID 5,8,11,14,17-Icosapentaenoic acid A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration. A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H30O2][accessDate: 05-04-2011] An eicosapentaenoic acid having cis double bonds at positions 5, 8, 11, 14 and 17. An icosapentaenoic acid that has formula C20H30O2. C20:1 n-9 cis C20:1 n-9 cis[accessedResource: C20H30O2][accessDate: 05-04-2011] C20H30O2 C20H30O2 CC\\C=C/C\\C=C/C\\C=C/C\\C=C/C\\C=C/CCCC(O)=O Cis-icos-11-enoic Cis-icos-11-enoic[accessedResource: C20H30O2][accessDate: 05-04-2011] EPA EPA; eicosapentaenoic acid Eicosapentaenoic acid Fatty Acid 20:1 n-9 Fatty Acid 20:1 n-9[accessedResource: C20H30O2][accessDate: 05-04-2011] Gondoic Acid Gondoic Acid[accessedResource: C20H30O2][accessDate: 05-04-2011] InChI=1/C20H30O2/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-16-17-18-19-20(21)22/h3-4,6-7,9-10,12-13,15-16H,2,5,8,11,14,17-19H2,1H3,(H,21,22)/b4-3-,7-6-,10-9-,13-12-,16-15-/f/h21H InChIKey=JAZBEHYOTPTENJ-IQFRBLEYDZ Timnodonic acid all-cis-5,8,11,14,17-eicosapentaenoic acid cis-5,8,11,14,17-eicosapentaenoic acid cis-Delta(5,8,11,14,17)-eicosapentaenoic acid icosapent icosapento icosapentum novobiocin CHEBI_28368 http://www.ebi.ac.uk/efo/EFO_0001583 vincristine 22-Oxovincaleukoblastine A vinca alkaloid that has formula C46H56N4O10. C46H56N4O10 CHEBI_28445 Ele Holloway InChI=1/C46H56N4O10/c1-7-42(55)22-28-23-45(40(53)58-5,36-30(14-18-48(24-28)25-42)29-12-9-10-13-33(29)47-36)32-20-31-34(21-35(32)57-4)50(26-51)38-44(31)16-19-49-17-11-15-43(8-2,37(44)49)39(60-27(3)52)46(38,56)41(54)59-6/h9-13,15,20-21,26,28,37-39,47,55-56H,7-8,14,16-19,22-25H2,1-6H3/t28-,37+,38-,39-,42+,43-,44-,45+,46+/m1/s1 InChIKey=OGWKCGZFUXNPDA-XQKSVPLYBW James Malone [H][C@@]12N3CC[C@@]11c4cc(c(OC)cc4N(C=O)[C@@]1([H])[C@](O)([C@H](OC(C)=O)[C@]2(CC)C=CC3)C(=O)OC)[C@]1(C[C@@H]2C[N@](CCc3c1[nH]c1ccccc31)C[C@](O)(CC)C2)C(=O)OC http://www.ebi.ac.uk/efo/EFO_0002421 leurocristine ajmaline (+)-Ajmaline Ajmaline C20H26N2O2 ChemIDplus:4360-12-7 Class imported / merged by efoimporter InChI=1S/C20H26N2O2/c1-3-10-11-8-14-17-20(12-6-4-5-7-13(12)21(17)2)9-15(16(11)18(20)23)22(14)19(10)24/h4-7,10-11,14-19,23-24H,3,8-9H2,1-2H3/t10-,11-,14-,15-,16?,17-,18+,19+,20+/m0/s1 InChIKey=CJDRUOGAGYHKKD-HEFSZTOGSA-N KEGG COMPOUND:4360-12-7 KEGG COMPOUND:C06542 [H][C@@]12C[C@H]3[C@H](CC)[C@@H](O)N1[C@H]1C[C@@]4([C@H](O)C31)c1ccccc1N(C)[C@@]24[H] ajmalan-17alpha,21alpha-diol 1,2-dibromoethane 1,2-Dibromoethane 1,2-dibromoethane Beilstein:605266 BrCCBr C2H4Br2 ChEMBL:587722 ChemIDplus:106-93-4 Class imported / merged by efoimporter DBE EDB Ethylene dibromide Gmelin:1913 InChI=1S/C2H4Br2/c3-1-2-4/h1-2H2 InChIKey=PAAZPARNPHGIKF-UHFFFAOYSA-N KEGG COMPOUND:106-93-4 KEGG COMPOUND:C11088 NIST Chemistry WebBook:106-93-4 alpha,beta-dibromoethane alpha,omega-dibromoethane ethylene bromide sym-Dibromoethane piperazine Beilstein:102555 C1CNCCN1 C4H10N2 ChemIDplus:110-85-0 Diethylenediamine Gmelin:25695 InChI=1S/C4H10N2/c1-2-6-4-3-5-1/h5-6H,1-4H2 InChIKey=GLUUGHFHXGJENI-UHFFFAOYSA-N KEGG COMPOUND:110-85-0 KEGG COMPOUND:C07973 KEGG DRUG:D00807 NIST Chemistry WebBook:110-85-0 Piperazine Vermizine (TN) Wikipedia:Piperazine piperazines true quinidine (+)-quinidine (8R,9S)-quinidine (9S)-6'-methoxycinchonan-9-ol (R)-(6-methoxyquinolin-4-yl)((3S,4R,7S)-3-vinylquinuclidin-7-yl)methanol (S)-(6-Methoxy-quinolin-4-yl)-((2R,5R)-5-vinyl-1-aza-bicyclo[2.2.2]oct-2-yl)-methanol (S)-(6-methoxyquinolin-4-yl)((2R,5R)-5-vinylquinuclidin-2-yl)methanol 6-methoxy-alpha-(5-vinyl-2-quinuclidinyl)-4-quinolinemethanol Beilstein:91866 C20H24N2O2 CIN-QUIN ChEMBL:12477351 ChEMBL:12699389 ChEMBL:14971904 ChEMBL:15225721 ChEMBL:15270556 ChEMBL:16570918 ChEMBL:17132069 ChEMBL:17228875 ChEMBL:17870541 ChEMBL:18324762 ChEMBL:18395298 ChEMBL:18788725 ChemIDplus:56-54-2 Chinidin CiteXplore:17249648 CiteXplore:445303 Class imported / merged by efoimporter Conchinin DrugBank:DB00908 InChI=1S/C20H24N2O2/c1-3-13-12-22-9-7-14(13)10-19(22)20(23)16-6-8-21-18-5-4-15(24-2)11-17(16)18/h3-6,8,11,13-14,19-20,23H,1,7,9-10,12H2,2H3/t13-,14-,19+,20-/m0/s1 InChIKey=LOUPRKONTZGTKE-LHHVKLHASA-N KEGG COMPOUND:56-54-2 KEGG COMPOUND:C06527 KEGG DRUG:D08458 Kinidin NIST Chemistry WebBook:56-54-2 Quinidine Reaxys:91866 [H][C@@]1(C[C@@H]2CC[N@]1C[C@@H]2C=C)[C@@H](O)c1ccnc2ccc(OC)cc12 alpha-(6-methoxy-4-quinolyl)-5-vinyl-2-quinuclidinemethanol beta-quinine chinidinum conquinine pitayine quinidina quinidine 1,4-dichlorobenzene 1,4-Dichlorobenzene 1,4-dichlorobenzene Beilstein:1680023 C6H4Cl2 ChEMBL:423234 ChemIDplus:106-46-7 Class imported / merged by efoimporter Clc1ccc(Cl)cc1 Gmelin:49722 InChI=1S/C6H4Cl2/c7-5-1-2-6(8)4-3-5/h1-4H InChIKey=OCJBOOLMMGQPQU-UHFFFAOYSA-N KEGG COMPOUND:106-46-7 KEGG COMPOUND:C07092 NIST Chemistry WebBook:106-46-7 PARA PDCB Paradichlorbenzol UM-BBD:c0593 p-Dichlorbenzol p-Dichlorobenzene p-chlorophenyl chloride paradichlorobenzene acrylamide 2-Propenamide 20027 27 79-06-1 A member of the acrylamides that has formula C3H5NO. Akrylamid C3 Gene C3 Gene[accessedResource: C3H5NO][accessDate: 05-04-2011] C3H5NO C3H5NO C3[accessedResource: C3H5NO][accessDate: 05-04-2011] Complement Component 3 Gene Complement Component 3 Gene[accessedResource: C3H5NO][accessDate: 05-04-2011] InChI=1/C3H5NO/c1-2-3(4)5/h2H,1H2,(H2,4,5)/f/h4H2 InChIKey=HRPVXLWXLXDGHG-LGEMBHMGCJ NC(=O)C=C This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H5NO][accessDate: 05-04-2011] acrylamide ethylenecarboxamide prop-2-enamide lipoteichoic Acid 40534 56411-57-5 A teichoic acid which is covalently bound to a lipid. phosphorus 15P ChemIDplus:7723-14-0 Gmelin:16235 InChI=1S/P InChIKey=OAICVXFJPJFONN-UHFFFAOYSA-N KEGG COMPOUND:7723-14-0 KEGG COMPOUND:C06262 P Phosphor Phosphorus WebElements:P [P] fosforo phosphore true leukotriene D4 (R-(R*,S*-(E,E,Z,Z)))-N-(S-(1-(4-Carboxy-1-hydroxybutyl)-2,4,6,9-pentadecatetraenyl)-L-cysteinyl)glycine 11q23.1-q23.2 11q23.1-q23.2[accessedResource: C25H40N2O6S][accessDate: 05-04-2011] 20533 40533 5S-hydroxy-6R-(S-cysteinylglycinyl)-7E,9E,11E,14Z-eicosatetraenoic acid 73836-78-9 A chromosome band present on 11q A chromosome band present on 11q[accessedResource: C25H40N2O6S][accessDate: 05-04-2011] A leukotriene that has formula C25H40N2O6S. C25H40N2O6S C25H40N2O6S CCCCC\\C=C/C\\C=C/C=C/C=C/[C@@H](SC[C@H](N)C(=O)NCC(O)=O)[C@@H](O)CCCC(O)=O InChI=1/C25H40N2O6S/c1-2-3-4-5-6-7-8-9-10-11-12-13-16-22(21(28)15-14-17-23(29)30)34-19-20(26)25(33)27-18-24(31)32/h6-7,9-13,16,20-22,28H,2-5,8,14-15,17-19,26H2,1H3,(H,27,33)(H,29,30)(H,31,32)/b7-6-,10-9-,12-11+,16-13+/t20-,21-,22+/m0/s1/f/h27,29,31H InChIKey=YEESKJGWJFYOOK-MBFKQSLNDJ LTD4 S-[(4S,5R,6E,8E,10Z,13Z)-1-carboxy-4-hydroxynonadeca-6,8,10,13-tetraen-5-yl]cysteinylglycine S-{(1R,2E,4E,6Z,9Z)-1-[(1S)-4-carboxy-1-hydroxybutyl]pentadeca-2,4,6,9-tetraen-1-yl}-L-cysteinylglycine cytarabine 1-beta-D-Arabinofuranosylcytosine 10-Deacetyltaxol 147-94-4 22877 2877 4-Amino-1-beta-D-arabinofuranosyl-2(1H)-pyrimidinone 4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one 4-amino-1-beta-D-arabinofuranosylpyrimidin-2(1H)-one A pyrimidine nucleoside that has formula C9H13N3O5. A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability. A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability.[accessedResource: C9H13N3O5][accessDate: 05-04-2011] Activation of Membrane Attack Complex Activation of Membrane Attack Complex[accessedResource: C9H13N3O5][accessDate: 05-04-2011] An analog of paclitaxel with antineoplastic activity. 10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis. C9H13N3O5 C9H13N3O5 Cytosine arabinoside Cytosine-1-beta-D-arabinofuranoside InChI=1/C9H13N3O5/c10-5-1-2-12(9(16)11-5)8-7(15)6(14)4(3-13)17-8/h1-2,4,6-8,13-15H,3H2,(H2,10,11,16)/t4-,6-,7+,8-/m1/s1/f/h10H2 InChIKey=UHDGCWIWMRVCDJ-JEMZYTBMDI Nc1ccn([C@@H]2O[C@H](CO)[C@@H](O)[C@@H]2O)c(=O)n1 benzenepropanoic acid, beta-(benzoylamino)-alpha-hydroxy-, 12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester, (2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alphaR*,betaS*),11alpha,12alpha,12aalpha,12balpha))- cytosine arabinoside; Ara-C dehydroepiandrosterone 3beta-hydroxyandrost-5-en-17-one 5 Androsten 3 beta hydroxy 17 one 5 Androsten 3 beta hydroxy 17 one[accessedResource: MSH:D003687][accessDate: 05-04-2011] 5 Androsten 3 ol 17 one 5 Androsten 3 ol 17 one[accessedResource: MSH:D003687][accessDate: 05-04-2011] 5-Androsten-3-beta-hydroxy-17-one 5-Androsten-3-beta-hydroxy-17-one[accessedResource: MSH:D003687][accessDate: 05-04-2011] 5-Androsten-3-ol-17-one 5-Androsten-3-ol-17-one[accessedResource: MSH:D003687][accessDate: 05-04-2011] A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion. A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion.[accessedResource: MSH:D003687][accessDate: 05-04-2011] An androgen that has formula C19H28O2. Androst-5-en-17-one, 3-hydroxy-, (3beta)- Androst-5-en-17-one, 3-hydroxy-, (3beta)-[accessedResource: MSH:D003687][accessDate: 05-04-2011] Androstenolone Androstenolone[accessedResource: MSH:D003687][accessDate: 05-04-2011] DHEA DHEA[accessedResource: MSH:D003687][accessDate: 05-04-2011] Dehydroisoandrosterone Dehydroisoandrosterone[accessedResource: MSH:D003687][accessDate: 05-04-2011] MSH:D003687 Prasterone Prasterone, 3 alpha Isomer Prasterone, 3 alpha Isomer[accessedResource: MSH:D003687][accessDate: 05-04-2011] Prasterone, 3 alpha-Isomer Prasterone, 3 alpha-Isomer[accessedResource: MSH:D003687][accessDate: 05-04-2011] Prasterone[accessedResource: MSH:D003687][accessDate: 05-04-2011] Tomasz Adamusiak copper 29Cu A copper group element atom that has formula Cu. A copper group element that has formula Cu. CHEBI_28694 Cu Ele Holloway InChI=1/Cu InChIKey=RYGMFSIKBFXOCR-UHFFFAOYAN James Malone Kupfer cobre copper atom cuivre cuprum http://www.ebi.ac.uk/efo/EFO_0002406 doxorubicin (1S,3S)-3,5,12-trihydroxy-3-(hydroxyacetyl)-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside (1S,3S)-3-glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside (8S-cis)-10-((3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione 14-hydroxydaunomycin 14-hydroxydaunorubicine A deoxy hexoside that has formula C27H29NO11. Adriamycin C27H29NO11 CHEBI_28748 COc1cccc2C(=O)c3c(O)c4C[C@](O)(C[C@H](O[C@H]5C[C@H](N)[C@H](O)[C@H](C)O5)c4c(O)c3C(=O)c12)C(=O)CO InChI=1/C27H29NO11/c1-10-22(31)13(28)6-17(38-10)39-15-8-27(36,16(30)9-29)7-12-19(15)26(35)21-20(24(12)33)23(32)11-4-3-5-14(37-2)18(11)25(21)34/h3-5,10,13,15,17,22,29,31,33,35-36H,6-9,28H2,1-2H3/t10-,13-,15-,17-,22+,27-/m0/s1 InChIKey=AOJJSUZBOXZQNB-TZSSRYMLBG doxorubicine doxorubicinum http://www.ebi.ac.uk/efo/EFO_0001527 paraquat dichloride 1,1'-Dimethyl-4,4'-bipyridinium dichloride 1,1'-Dimethyl-4,4'-dipyridylium dichloride 1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium dichloride 4,4'-Dimethyldipyridyl dichloride C12H14N2.2Cl ChEMBL:596901 ChemIDplus:1910-42-5 Class imported / merged by efoimporter InChI=1S/C12H14N2.2ClH/c1-13-7-3-11(4-8-13)12-5-9-14(2)10-6-12;;/h3-10H,1-2H3;2*1H/q+2;;/p-2 InChIKey=FIKAKWIAUPDISJ-UHFFFAOYSA-L KEGG COMPOUND:1910-42-5 KEGG COMPOUND:C00225 Methyl viologen Methyl viologen dichloride N,N'-Dimethyl-4,4'-bipyridinium dichloride N,N'-Dimethyl-4,4'-bipyridylium dichloride Paraquat dichloride [Cl-].[Cl-].C[n+]1ccc(cc1)-c1cc[n+](C)cc1 serotonin 3-(2-Aminoethyl)-1H-indol-5-ol 3-(2-aminoethyl)-1H-indol-5-ol 5-HT 5-Hydroxytryptamine Beilstein:143524 C10H12N2O ChemIDplus:50-67-9 Enteramine Gmelin:1861995 InChI=1S/C10H12N2O/c11-4-3-7-6-12-10-2-1-8(13)5-9(7)10/h1-2,5-6,12-13H,3-4,11H2 InChIKey=QZAYGJVTTNCVMB-UHFFFAOYSA-N KEGG COMPOUND:50-67-9 KEGG COMPOUND:C00780 NCCc1c[nH]c2ccc(O)cc12 PDBeChem:SRO SEROTONIN Serotonin serotonine thrombocytin thrombotonin true coumarin 1,2-Benzopyrone 2-Propenoic acid, 3-(2-hydroxyphenyl)-, d-lactone 2H-1-Benzopyran-2-one 2H-benzo[b]pyran-2-one 2H-chromen-2-one 5,6-Benzo-2-pyrone Beilstein:383644 Benzo-a-pyrone C9H6O2 ChemIDplus:91-64-5 CiteXplore:17988284 CiteXplore:19025869 CiteXplore:21046436 CiteXplore:21462332 CiteXplore:21798343 CiteXplore:8735869 Class imported / merged by efoimporter Coumarine Coumarinic anhydride Cumarin Gmelin:165222 HMDB:HMDB01218 InChI=1S/C9H6O2/c10-9-6-5-7-3-1-2-4-8(7)11-9/h1-6H InChIKey=ZYGHJZDHTFUPRJ-UHFFFAOYSA-N KEGG COMPOUND:91-64-5 KEGG COMPOUND:C05851 KEGG DRUG:D07751 MetaCyc:COUMARIN NIST Chemistry WebBook:91-64-5 O=c1ccc2ccccc2o1 Rattex Reaxys:383644 Tonka bean camphor Wikipedia:Coumarin cis-o-Coumarinic acid lactone o-Hydroxycinnamic acid lactone o-hydroxycinnamic acid delta-lactone phytosterol (22E)-stigmasta-5,22-dien-3beta-ol (3beta,22E)-stigmasta-5,22-dien-3-ol 5,22-Cholestadien-24-ethyl-3beta-ol Beilstein:2568182 C29H48O ChemIDplus:83-48-7 CiteXplore:13318319 CiteXplore:13547565 HMDB:HMDB00937 InChI=1S/C29H48O/c1-7-21(19(2)3)9-8-20(4)25-12-13-26-24-11-10-22-18-23(30)14-16-28(22,5)27(24)15-17-29(25,26)6/h8-10,19-21,23-27,30H,7,11-18H2,1-6H3/b9-8+/t20-,21-,23+,24+,25-,26+,27+,28+,29-/m1/s1 InChIKey=HCXVJBMSMIARIN-PHZDYDNGSA-N KEGG COMPOUND:83-48-7 KEGG COMPOUND:C05442 LIPID MAPS:LMST01040123 NIST Chemistry WebBook:83-48-7 Phytosterol Reaxys:2568182 Stigmasterol Wikipedia:Stigmasterol [H][C@@]1(CC[C@@]2([H])[C@]3([H])CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)\\C=C\\[C@@H](CC)C(C)C beta-stigmasterol phytosterols poriferasterol stigmasta-5,22-dien-3beta-ol true gibberellin A3 (1R,2R,5S,8S,9S,10R,11S,12S)-5,12-dihydroxy-11-methyl-6-methylidene-16-oxo-15-oxapentacyclo[9.3.2.1(5,8).0(1,10).0(2,8)]heptadec-13-ene-9-carboxylic acid 2beta,7alpha-dihydroxy-1beta-methyl-8-methylidene-13-oxo-4a,1alpha-epoxymethano-4aalpha,4bbeta-gibb-3-ene-10beta-carboxylic acid Beilstein:54346 C19H22O6 ChEMBL:795302 ChemIDplus:77-06-5 Class imported / merged by efoimporter GA3 Gibberellic acid Gibberellin Gibberellin A3 Gibberellinsaeure InChI=1S/C19H22O6/c1-9-7-17-8-18(9,24)5-3-10(17)19-6-4-11(20)16(2,15(23)25-19)13(19)12(17)14(21)22/h4,6,10-13,20,24H,1,3,5,7-8H2,2H3,(H,21,22)/t10-,11+,12-,13-,16-,17+,18+,19-/m1/s1 InChIKey=IXORZMNAPKEEDV-OBDJNFEBSA-N KEGG COMPOUND:77-06-5 KEGG COMPOUND:C01699 LIPID MAPS:LMPR0104170002 [H][C@@]12CC[C@]3(O)C[C@]1(CC3=C)[C@@H](C(O)=O)[C@]1([H])[C@@]3(C)[C@@H](O)C=C[C@@]21OC3=O gibberellin 3 5-amino-1-(5-phospho-D-ribosyl)imidazole 1-(5'-Phosphoribosyl)-5-aminoimidazole 1-(5'-phosphoribosyl)-5-aminoimidazole 1-(5-O-phosphono-D-ribofuranosyl)-1H-imidazol-5-amine 1-(5-Phospho-D-ribosyl)-5-aminoimidazole 5'-Phosphoribosyl-5-aminoimidazole 5-Amino-1-(5-phospho-D-ribosyl)imidazole AIR Aminoimidazole ribotide C8H14N3O7P Class imported / merged by efoimporter InChI=1S/C8H14N3O7P/c9-5-1-10-3-11(5)8-7(13)6(12)4(18-8)2-17-19(14,15)16/h1,3-4,6-8,12-13H,2,9H2,(H2,14,15,16)/t4-,6-,7-,8?/m1/s1 InChIKey=PDACUKOKVHBVHJ-ZRTZXPPTSA-N KEGG COMPOUND:25635-88-5 KEGG COMPOUND:C03373 Nc1cncn1C1O[C@H](COP(O)(O)=O)[C@@H](O)[C@H]1O (2,4-dichlorophenoxy)acetic acid (2,4-Dichlorphenoxy)essigsaeure (2,4-dichlorophenoxy)acetic acid 2,4-D 2,4-D; 2,4-dichlorophenoxyacetic acid 2,4-Dichlorophenoxyacetate 2,4-Dichlorophenoxyacetic acid 20442 442 94-75-7 A chlorophenoxyacetic acid that has formula C8H6Cl2O3. C8H6Cl2O3 C8H6Cl2O3 CP25 CP25[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI) HHO.C8 HHO.C8[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] HOX3C HOX3C[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] HOXC6 HOXC6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Hedonal Homeobox Protein 3C Homeobox Protein 3C[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox Protein C6 Homeobox Protein C6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox Protein C8 Homeobox Protein C8[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox Protein CP25 Homeobox Protein CP25[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox Protein HHO.C8 Homeobox Protein HHO.C8[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox Protein HOXC6 Homeobox Protein HOXC6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox Protein Hox-3C Homeobox Protein Hox-3C[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox Protein Hox-C6 Homeobox Protein Hox-C6[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development. Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H6Cl2O3][accessDate: 05-04-2011] InChI=1/C8H6Cl2O3/c9-5-1-2-7(6(10)3-5)13-4-8(11)12/h1-3H,4H2,(H,11,12)/f/h11H InChIKey=OVSKIKFHRZPJSS-WXRBYKJCCM OC(=O)COc1ccc(Cl)cc1Cl Trinoxol tobramycin (1S,2S,3R,4S,6R)-4,6-diamino-3-(2,6-diamino-2,3,6-trideoxy-alpha-D-ribo-hexopyranosyloxy)-2-hydroxycyclohexyl 3-amino-3-deoxy-alpha-D-glucopyranoside (1S,2S,3R,4S,6R)-4,6-diamino-3-[(2,6-diamino-2,3,6-trideoxy-alpha-D-ribo-hexopyranosyl)oxy]-2-hydroxycyclohexyl 3-amino-3-deoxy-alpha-D-glucopyranoside 23680 3'-Deoxykanamycin B 32986-56-4 C18H37N5O9 C18H37N5O9 EFABP EFABP[accessedResource: C18H37N5O9][accessDate: 05-04-2011] Epidermal Fatty Acid-Binding Protein Epidermal Fatty Acid-Binding Protein[accessedResource: C18H37N5O9][accessDate: 05-04-2011] Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI) Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H37N5O9][accessDate: 05-04-2011] FABP5 FABP5[accessedResource: C18H37N5O9][accessDate: 05-04-2011] Fatty Acid Binding Protein 5 Fatty Acid Binding Protein 5[accessedResource: C18H37N5O9][accessDate: 05-04-2011] InChI=1/C18H37N5O9/c19-3-9-8(25)2-7(22)17(29-9)31-15-5(20)1-6(21)16(14(15)28)32-18-13(27)11(23)12(26)10(4-24)30-18/h5-18,24-28H,1-4,19-23H2/t5-,6+,7+,8-,9+,10+,11-,12+,13+,14-,15+,16-,17+,18+/m0/s1 InChIKey=NLVFBUXFDBBNBW-PBSUHMDJBB NC[C@H]1O[C@H](O[C@@H]2[C@@H](N)C[C@@H](N)[C@H](O[C@H]3O[C@H](CO)[C@@H](O)[C@H](N)[C@H]3O)[C@H]2O)[C@H](N)C[C@@H]1O Nebramycin 6 Nebramycin factir 6 O-3-Amino-3-deoxy-alpha-D-glucopyranosyl-(1-4)-O-(2,6-diamino-2,3,6-trideoxy-alpha-D-ribohexopyranosyl-(1-4))-2-deoxy-D-streptamine PAFABP PAFABP[accessedResource: C18H37N5O9][accessDate: 05-04-2011] Tobracin (TN) Tobrex (TN) butan-1-ol 1-butyl alcohol 1-hydroxybutane 1740 21740 71-36-3 An alkyl alcohol that has formula C4H10O. BuOH C4H10O C4H10O C4[accessedResource: C4H10O][accessDate: 05-04-2011] CCCCO Complement C4 Complement C4 Measurement[accessedResource: C4H10O][accessDate: 05-04-2011] Complement C4[accessedResource: C4H10O][accessDate: 05-04-2011] Complement Component-4 Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components. InChI=1/C4H10O/c1-2-3-4-5/h5H,2-4H2,1H3 InChIKey=LRHPLDYGYMQRHN-UHFFFAOYAS The determination of the amount of complement C4 present in a sample. The determination of the amount of complement C4 present in a sample.[accessedResource: C4H10O][accessDate: 05-04-2011] butan-1-ol butanol; 1-butanol n-Butanol n-Butylalkohol n-butan-1-ol n-butyl alcohol propyl carbinol 3-aminophenol 24497 3-aminophenol 4497 591-27-5 C6 Vertebra C6 Vertebra[accessedResource: C6H7NO][accessDate: 05-04-2011] C6H7NO C6H7NO InChI=1/C6H7NO/c7-5-2-1-3-6(8)4-5/h1-4,8H,7H2 InChIKey=CWLKGDAVCFYWJK-UHFFFAOYAM Nc1cccc(O)c1 The one of three amino derivatives of phenol which has the single amino substituent located meta to the phenolic -OH group. The sixth of the seven cervical vertebrae. The sixth of the seven cervical vertebrae.[accessedResource: C6H7NO][accessDate: 05-04-2011] m-Aminophenol m-hydroxyaniline ammonium AMMONIUM ION Ammonium(1+) ChemIDplus:14798-03-9 Class imported / merged by efoimporter Gmelin:84 H4N InChI=1S/H3N/h1H3/p+1 InChIKey=QGZKDVFQNNGYKY-UHFFFAOYSA-O KEGG COMPOUND:C01342 MolBase:929 NH4(+) NH4+ NIST Chemistry WebBook:14798-03-9 PDBeChem:NH4 [H][N+]([H])([H])[H] [NH4](+) ammonium azanium N-acetyl-L-cysteine (2R)-2-acetylamino-3-sulfanylpropanoic acid (R)-2-acetylamino-3-mercaptopropanoic acid (R)-mercapturic acid Acetylcysteine An acetylcysteine that has formula C5H9NO3S. C5H9NO3S CC(=O)N[C@@H](CS)C(O)=O CHEBI_28939 InChI=1/C5H9NO3S/c1-3(7)6-4(2-10)5(8)9/h4,10H,2H2,1H3,(H,6,7)(H,8,9)/t4-/m0/s1/f/h6,8H InChIKey=PWKSKIMOESPYIA-JVBVHTJODB L-acetylcysteine L-alpha-acetamido-beta-mercaptopropionic acid N-acetylcysteine The N-acetylated derivative of natural amino acid L-cysteine. acetilcisteina acetylcysteinum http://www.ebi.ac.uk/efo/EFO_0001576 mercapturic acid calciol (+)-vitamin D3 (1S,3Z)-3-[(2E)-2-[(1R,3AR,7AS)-7A-METHYL-1-[(2R)-6-METHYLHEPTAN-2-YL]-2,3,3A,5,6,7-HEXAHYDRO-1H-INDEN-4-YLIDENE]ETHYLIDENE]-4-METHYLIDENE-CYCLOHEXAN-1-OL (3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol (3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol 67-97-0 A seco-cholestane that has formula C27H44O. A vitamin D that has formula C27H44O. C27H44O CC Cholecalciferol InChI=1/C27H44O/c1-19(2)8-6-9-21(4)25-15-16-26-22(10-7-17-27(25,26)5)12-13-23-18-24(28)14-11-20(23)3/h12-13,19,21,24-26,28H,3,6-11,14-18H2,1-2,4-5H3/b22-12+,23-13-/t21-,24+,25-,26+,27-/m1/s1 InChIKey=QYSXJUFSXHHAJI-YRZJJWOYBL [H][C@@]1(CC[C@]2([H])[C@]1(C)CCC\\C2=C/C=C1/C[C@@H](O)CCC1=C)[C@H](C)CCCC(C)C activated 7-dehydrocholesterol colecalciferol oleovitamin D3 ampicillin (2S,5R,6R)-6-{[(2R)-2-AMINO-2-PHENYLETHANOYL]AMINO}-3,3-DIMETHYL-7-OXO-4-THIA-1-AZABICYCLO[3.2.0]HEPTANE-2-CARBOXYLIC ACID (2S,5R,6R)-6-{[(2R)-2-amino-2-phenylacetyl]amino}-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid 6-(D-(2-amino-2-phenylacetamido))-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo(3.2.0)heptane-2-carboxylic acid 69-53-4 6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carboxylic acid A penicillin in which the substituent at position 6 of the penam ring is a 2-amino-2-phenylacetamido group. ABPC AMP AP Anhydrous ampicillin C16H19N3O4S D-(-)-6-(alpha-aminophenylacetamido)penicillanic acid D-(-)-ampicillin InChI=1/C16H19N3O4S/c1-16(2)11(15(22)23)19-13(21)10(14(19)24-16)18-12(20)9(17)8-6-4-3-5-7-8/h3-7,9-11,14H,17H2,1-2H3,(H,18,20)(H,22,23)/t9-,10-,11+,14-/m1/s1/f/h18,22H InChIKey=AVKUERGKIZMTKX-KXDAXDHGDU [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)[C@H](N)c1ccccc1)C(O)=O aminobenzylpenicillin ampicilina ampicillin acid ampicilline ampicillinum aluminium 13Al A boron group element atom that has formula Al. A boron group element that has formula Al. CHEBI_28984 Ele Holloway InChI=1/Al InChIKey=XAGFODPZIPBFFR-UHFFFAOYAX James Malone [Al] aluminio aluminium atom aluminum http://www.ebi.ac.uk/efo/EFO_0002399 ceftriaxone (6R,7R)-7-{[(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino}-3-{[(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl}-8-oxo-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid 73384-59-5 7beta-{[(2Z)-2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetyl]amino}-3-{[(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl}-3,4-didehydrocepham-4-carboxylic acid A cephalosporin compound having 2-(2-amino-1,3-thiazol-4-yl)-2-(methoxyimino)acetylamino and [(2-methyl-5,6-dioxo-1,2,5,6-tetrahydro-1,2,4-triazin-3-yl)sulfanyl]methyl side groups. C18H18N8O7S3 InChI=1/C18H18N8O7S3/c1-25-18(22-12(28)13(29)23-25)36-4-6-3-34-15-9(14(30)26(15)10(6)16(31)32)21-11(27)8(24-33-2)7-5-35-17(19)20-7/h5,9,15H,3-4H2,1-2H3,(H2,19,20)(H,21,27)(H,23,29)(H,31,32)/b24-8-/t9-,15-/m1/s1/f/h21,23,31H,19H2 InChIKey=VAAUVRVFOQPIGI-MPSLXNHQDN [H][C@]12SCC(CSc3nc(=O)c(=O)[nH]n3C)=C(N1C(=O)[C@H]2NC(=O)C(=N/OC)\\c1csc(N)n1)C(O)=O ceftriaxona ceftriaxonum N-benzyladenine 6-(benzylamino)purine 6-BAP 6-Benzylaminopurine 6-[(phenylmethyl)amino]-9H-purine BAP Beilstein:616790 C(Nc1ncnc2[nH]cnc12)c1ccccc1 C12H11N5 ChEMBL:485067 ChemIDplus:1214-39-7 Class imported / merged by efoimporter Cytokinin B Gmelin:145502 InChI=1S/C12H11N5/c1-2-4-9(5-3-1)6-13-11-10-12(15-7-14-10)17-8-16-11/h1-5,7-8H,6H2,(H2,13,14,15,16,17) InChIKey=NWBJYWHLCVSVIJ-UHFFFAOYSA-N KEGG COMPOUND:1214-39-7 KEGG COMPOUND:C11263 N(6)-(benzylamino)purine N-BENZYL-9H-PURIN-6-AMINE N-Benzyladenine N-benzyl-9H-purin-6-amine N6-Benzyladenine NIST Chemistry WebBook:1214-39-7 PDBeChem:EMU benzyladenine http://www.ebi.ac.uk/efo/EFO_0001577 L-ascorbic acid (5R)-5-[(1S)-1,2-dihydroxyethyl]-3,4-dihydroxyfuran-2(5H)-one 50-81-7 An ascorbic acid that has formula C6H8O6. Ascoltin Ascorbicap Ascorbinsaeure C6H8O6 InChI=1/C6H8O6/c7-1-2(8)5-3(9)4(10)6(11)12-5/h2,5,7-10H,1H2/t2-,5+/m0/s1 InChIKey=CIWBSHSKHKDKBQ-JLAZNSOCBT L-Ascorbate L-threo-hex-2-enono-1,4-lactone The L- enatiomer of ascorbic acid and conjugate acid of L-ascorbate; an essential nutrient and antioxidant with possible anticancer role, especially with intravenous administration. A cofactor in several enzymatic reactions of living organisms, it is linked with effective wound healing and prevention or treatment of scurvy and gout. Also known as vitamin C, it is believed to boost the immune system. Humans alone of the primates require exogenous sources of daily vitamin C. Vitamin C [H][C@@]1(OC(=O)C(O)=C1O)[C@@H](O)CO acide ascorbique acido ascorbico acidum ascorbicum acidum ascorbinicum ascorbic acid calcium(2+) 14127-61-8 17638 37638 A calcium cation that has formula Ca. CALCIUM ION Ca Ca Ca(2+) Ca2+ InChI=1/Ca/q+2 InChIKey=BHPQYMZQTOCNFJ-UHFFFAOYAP calcium calcium(2+) ion calcium(II) cation calcium, doubly charged positive ion sodium nitroprusside 14402-89-2 16794 36794 An organic sodium salt that has formula C5FeN6Na2O. C5 C5 Gene C5 Gene[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011] C5FeN6Na2O C5FeN6Na2O C5[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011] Complement Component 5 Gene Complement Component 5 Gene[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011] Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release. Human C5 wild-type allele is located within 9q33-q34 and is approximately 98 kb in length. This allele, which encodes complement C5 protein, is involved in the complement system, inflammatory responses, and histamine release.[accessedResource: C5FeN6Na2O][accessDate: 05-04-2011] InChI=1/5CN.Fe.NO.2Na/c5*1-2;;1-2;;/q;;;;;2*-1;2*+1 InChIKey=FPWUWQVZUNFZQM-UHFFFAOYAO Na2[Fe(CN)5(NO)] SNP Sodium nitroprusside anhydrous Sodium pentacyanonitrosylferrate [Na+].[Na+].O=N[Fe--](C#N)(C#N)(C#N)(C#N)C#N disodium pentacyanidonitrosylferrate sodium pentacyanidonitrosylferrate(2-) sodium pentacyanidonitrosylferrate(III) phosgene CCl2O COCl2 ClC(Cl)=O InChI=1/CCl2O/c2-1(3)4 InChIKey=YGYAWVDWMABLBF-UHFFFAOYAH carbonyl dichloride dioxygen(2+) Class imported / merged by efoimporter Gmelin:48980 InChI=1S/O2/c1-2/q+2 InChIKey=NIWXMCONPJOXBL-UHFFFAOYSA-N O2 O2(2+) [O+]#[O+] [O2](2+) dioxidanebis(ylium) dioxygen(2+) azathioprine 6-((1-Methyl-4-nitro-1H-imidazol-5-yl)thio)-1H-purine 6-(1'-Methyl-4'-nitro-5'-imidazolyl)-mercaptopurine 6-[(1-methyl-4-nitro-1H-imidazol-5-yl)sulfanyl]-7H-purine C9H7N7O2S ChEMBL:531141 ChemIDplus:446-86-6 Class imported / merged by efoimporter Cn1cnc(c1Sc1ncnc2nc[nH]c12)[N+]([O-])=O Imuran (TN) InChI=1S/C9H7N7O2S/c1-15-4-14-7(16(17)18)9(15)19-8-5-6(11-2-10-5)12-3-13-8/h2-4H,1H3,(H,10,11,12,13) InChIKey=LMEKQMALGUDUQG-UHFFFAOYSA-N James Malone KEGG DRUG:446-86-6 KEGG DRUG:D00238 Wikipedia:Azathioprine http://www.ebi.ac.uk/efo/EFO_0001491 azithromycin (2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-b-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-a-L-ribo-hexopyranoside (2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranoside (2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)13-((2,6-Dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-1-oxa-6-azacyclopentadecan-15-one 10760 10q24.1-q25.1 10q24.1-q25.1[accessedResource: C38H72N2O12][accessDate: 05-04-2011] 30760 83905-01-5 A chromosome band present on 10q A chromosome band present on 10q[accessedResource: C38H72N2O12][accessDate: 05-04-2011] AZM Azenil Azifast Azigram Azimakrol Azitromin C38H72N2O12 CC[C@H]1OC(=O)[C@H](C)[C@@H](O[C@H]2C[C@@](C)(OC)[C@@H](O)[C@H](C)O2)[C@H](C)[C@@H](O[C@@H]2O[C@H](C)C[C@@H]([C@H]2O)N(C)C)[C@](C)(O)C[C@@H](C)CN(C)[C@H](C)[C@@H](O)[C@]1(C)O Hemomycin InChI=1/C38H72N2O12/c1-15-27-38(10,46)31(42)24(6)40(13)19-20(2)17-36(8,45)33(52-35-29(41)26(39(11)12)16-21(3)48-35)22(4)30(23(5)34(44)50-27)51-28-18-37(9,47-14)32(43)25(7)49-28/h20-33,35,41-43,45-46H,15-19H2,1-14H3/t20-,21-,22+,23-,24-,25+,26+,27-,28+,29-,30+,31-,32+,33-,35+,36-,37-,38-/m1/s1 InChIKey=MQTOSJVFKKJCRP-BICOPXKEBK Zithromax Zmax aritromicina azithromycine azithromycinum neocarzinostatin chromophore (1aS,5R,6R,6aE,9aR)-6-{[2,6-dideoxy-2-(methylamino)-alpha-D-galactopyranosyl]oxy}-1a-[(4R)-2-oxo-1,3-dioxolan-4-yl]-2,3,8,9-tetradehydro-1a,5,6,9a-tetrahydrocyclopenta[5,6]cyclonona[1,2-b]oxiren-5-yl 2-hydroxy-7-methoxy-5-methyl-1-naphthoate C35H33NO12 CN[C@@H]1[C@@H](O)[C@@H](O)[C@@H](C)O[C@@H]1O[C@H]1[C@H](OC(=O)c2c(O)ccc3c(C)cc(OC)cc23)C=C2C#C[C@@]3(O[C@@H]3C#C/C=C1\\2)[C@H]1COC(=O)O1 ChemIDplus:81604-85-5 CiteXplore:11735421 CiteXplore:11916399 CiteXplore:11955061 CiteXplore:16546380 CiteXplore:20336247 CiteXplore:20735485 CiteXplore:2524463 CiteXplore:2976601 CiteXplore:6220205 CiteXplore:6223633 CiteXplore:7582949 CiteXplore:7582957 CiteXplore:8362243 CiteXplore:8466903 Class imported / merged by efoimporter Ele Holloway InChI=1S/C35H33NO12/c1-16-12-19(42-4)14-22-20(16)8-9-23(37)27(22)32(40)45-24-13-18-10-11-35(26-15-43-34(41)46-26)25(48-35)7-5-6-21(18)31(24)47-33-28(36-3)30(39)29(38)17(2)44-33/h6,8-9,12-14,17,24-26,28-31,33,36-39H,15H2,1-4H3/b21-6+/t17-,24-,25-,26-,28-,29+,30-,31-,33-,35+/m1/s1 InChIKey=QZGIWPZCWHMVQL-UIYAJPBUSA-N James Malone KEGG COMPOUND:81604-85-5 KEGG COMPOUND:C12049 Ncs-chrom Neocarzinostatin chromophore PDBeChem:CHR Reaxys:4224827 Tomasz Adamusiak Wikipedia:Neocarzinostatin http://www.ebi.ac.uk/efo/EFO_0003211 sodium metaarsenite (NaAsO2)n As3Na3O7 AsNaO2 ChemIDplus:7784-46-5 Class imported / merged by efoimporter InChI=1S/As3O7.3Na/c4-1(5)9-3(8)10-2(6)7;;;/q-5;3*+1 InChIKey=BMHFAZFKCQGNFO-UHFFFAOYSA-N KEGG COMPOUND:7784-46-5 KEGG COMPOUND:C11906 Na(+)n-(-As(O(-))O-)-n NaAsO2 Sodium arsenite Sodium dioxoarsenate catena-poly[(oxidoarsenate-mu-oxido)]sodium sodium meta-arsenite sodium metaarsenite thiostrepton C72H85N19O18S5 ChemIDplus:1393-48-2 CiteXplore:16076225 CiteXplore:21107477 CiteXplore:21323347 CiteXplore:21365012 CiteXplore:21620902 CiteXplore:21860463 CiteXplore:21903609 CiteXplore:21908407 CiteXplore:22049175 CiteXplore:22108865 CiteXplore:22271891 CiteXplore:22321511 CiteXplore:22353937 CiteXplore:22357874 CiteXplore:22391527 Class imported / merged by efoimporter Ele Holloway InChI=1S/C72H85N19O18S5/c1-14-26(3)47-63(105)78-30(7)57(99)75-28(5)56(98)76-31(8)58(100)91-72-19-18-40(66-85-43(22-111-66)59(101)77-29(6)55(97)74-27(4)54(73)96)81-52(72)42-21-112-67(83-42)49(34(11)109-69(107)41-20-37(32(9)92)36-16-17-39(79-47)51(95)50(36)80-41)89-60(102)44-24-113-68(86-44)53(71(13,108)35(12)94)90-62(104)45-23-110-65(84-45)38(15-2)82-64(106)48(33(10)93)88-61(103)46-25-114-70(72)87-46/h15-17,20-22,24-26,30-35,39,45,47-49,51-53,79,92-95,108H,4-6,14,18-19,23H2,1-3,7-13H3,(H2,73,96)(H,74,97)(H,75,99)(H,76,98)(H,77,101)(H,78,105)(H,82,106)(H,88,103)(H,89,102)(H,90,104)(H,91,100)/b38-15-/t26-,30-,31-,32-,33+,34+,35+,39+,45+,47-,48-,49-,51-,52+,53+,71+,72+/m0/s1 InChIKey=NSFFHOGKXHRQEW-AIHSUZKVSA-N James Malone KEGG COMPOUND:1393-48-2 KEGG COMPOUND:C12054 KEGG DRUG:D06111 Reaxys:7390758 Thiostrepton Tomasz Adamusiak Wikipedia:Thiostrepton [H][C@]12N=C(CC[C@@]11NC(=O)[C@H](C)NC(=O)C(=C)NC(=O)[C@H](C)NC(=O)[C@@H](N[C@@H]3C=Cc4c(cc(nc4[C@H]3O)C(=O)O[C@H](C)[C@H](NC(=O)c3csc(n3)[C@@H](NC(=O)[C@H]3CSC(=N3)\\C(NC(=O)[C@@H](NC(=O)c3csc1n3)[C@@H](C)O)=C\\C)[C@](C)(O)[C@@H](C)O)c1nc2cs1)[C@H](C)O)[C@@H](C)CC)c1nc(cs1)C(=O)NC(=C)C(=O)NC(=C)C(N)=O http://www.ebi.ac.uk/efo/EFO_0003261 tunicamycin C25H38N4O16 ChemIDplus:11089-65-9 CiteXplore:11478581 CiteXplore:11514096 CiteXplore:11732194 CiteXplore:11798249 CiteXplore:12093793 CiteXplore:12106388 CiteXplore:12136966 CiteXplore:12232600 CiteXplore:12232799 CiteXplore:12515321 CiteXplore:160437 CiteXplore:1624425 CiteXplore:3018444 CiteXplore:315774 CiteXplore:4624615 CiteXplore:4630978 CiteXplore:5103138 CiteXplore:5103535 CiteXplore:5168706 CiteXplore:6153524 CiteXplore:6813319 CiteXplore:6975776 CiteXplore:6992777 CiteXplore:701277 CiteXplore:7142115 CiteXplore:7144800 CiteXplore:7766032 Class imported / merged by efoimporter Ele Holloway James Malone KEGG COMPOUND:11089-65-9 KEGG COMPOUND:C12063 Tomasz Adamusiak Tunicamycin Wikipedia:Tunicamycin [H][C@@](O)(C[C@H]1O[C@@H](OC2O[C@H]([*]O)[C@@H](O)[C@H](O)[C@H]2NC(C)=O)[C@H](NC([*])=O)[C@@H](O)[C@H]1O)[C@@]1([H])O[C@H]([C@H](O)[C@@H]1O)n1ccc(=O)[nH]c1=O http://www.ebi.ac.uk/efo/EFO_0003214 baicalin 21967-41-9 5,6-dihydroxy-4-oxo-2-phenyl-4H-1-benzopyran-7-yl beta-D-glucopyranosiduronic acid 5,6-dihydroxy-4-oxo-2-phenyl-4H-chromen-7-yl beta-D-glucopyranosiduronic acid 7-D-glucuronic acid-5,6-dihydroxyflavone Baicalein 7-O-glucuronide InChI=1/C21H18O11/c22-9-6-10(8-4-2-1-3-5-8)30-11-7-12(14(23)15(24)13(9)11)31-21-18(27)16(25)17(26)19(32-21)20(28)29/h1-7,16-19,21,23-27H,(H,28,29)/t16-,17-,18+,19-,21+/m0/s1/f/h28H InChIKey=IKIIZLYTISPENI-LAONJVSMDB O[C@H]1[C@@H](O[C@@H]([C@@H](O)[C@@H]1O)C(O)=O)Oc1cc2oc(cc(=O)c2c(O)c1O)-c1ccccc1 The glycosyloxyflavone which is the 7-O-glucuronide of baicalein. benzo(a)pyrene (B(a)P) 11-Eicosenoic Acid 11-Eicosenoic Acid[accessedResource: C20H12][accessDate: 05-04-2011] 139 20139 3,4-BP 3,4-Benzopyrene 3,4-Benzpyrene 50-32-8 A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration. A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H12][accessDate: 05-04-2011] An ortho- and peri-fused polycyclic arene consisting of five fused benzene rings. BP BaP Benzo[a]pyrene Benzpyrene C20:1 n-9 cis C20:1 n-9 cis[accessedResource: C20H12][accessDate: 05-04-2011] C20H12 C20H12 Cis-icos-11-enoic Cis-icos-11-enoic[accessedResource: C20H12][accessDate: 05-04-2011] Fatty Acid 20:1 n-9 Fatty Acid 20:1 n-9[accessedResource: C20H12][accessDate: 05-04-2011] Gondoic Acid Gondoic Acid[accessedResource: C20H12][accessDate: 05-04-2011] InChI=1/C20H12/c1-2-7-17-15(4-1)12-16-9-8-13-5-3-6-14-10-11-18(17)20(16)19(13)14/h1-12H InChIKey=FMMWHPNWAFZXNH-UHFFFAOYAQ benzo[def]chrysene benzo[pqr]tetraphene benzo[pqr]tetraphene c1ccc2c(c1)cc1ccc3cccc4ccc2c1c34 arsenite(3-) 15502-74-6 ARSENITE An arsenite ion that has formula AsO3. As(III); arsenite AsO3 AsO3(3-) InChI=1/AsO3/c2-1(3)4/q-3 InChIKey=OWTFKEBRIAXSMO-UHFFFAOYAC [O-][As]([O-])[O-] arsorite trioxidoarsenate(3-) trioxoarsenate(3-) trioxoarsenate(III) divanadium pentaoxide Class imported / merged by efoimporter Gmelin:82259 InChI=1S/5O.2V InChIKey=GNTDGMZSJNCJKK-UHFFFAOYSA-N NIST Chemistry WebBook:1314-62-1 O5V2 O=[V](=O)O[V](=O)=O V2O5 divanadium pentaoxide vanadium(V) oxide acetate ACETATE ION Azetat C2H3O2 CC([O-])=O CH3-COO(-) Ethanoat InChI=1/C2H4O2/c1-2(3)4/h1H3,(H,3,4)/p-1/fC2H3O2/q-1 InChIKey=QTBSBXVTEAMEQO-KSORUIRRCC MeCO2 anion The conjugate base of acetic acid. acetic acid, ion(1-) ethanoate aluminium trichloride 29674 7446-70-0 9674 AlCl3 Aluminum chloride anhydrous Aluminum trichloride An aluminium coordination entity that has formula AlCl3. Cl[Al](Cl)Cl InChI=1/Al.3ClH/h;3*1H/q+3;;;/p-3/fAl.3Cl/h;3*1h/qm;3*-1 InChIKey=VSCWAEJMTAWNJL-GZMOREBICG [AlCl3] aluminium(3+) chloride aluminium(III) chloride aluminum trichloride trichloridoaluminium trichloroalumane lithium atom 3Li Class imported / merged by efoimporter InChI=1S/Li InChIKey=WHXSMMKQMYFTQS-UHFFFAOYSA-N Li Lithium NIST Chemistry WebBook:7439-93-2 WebElements:Li [Li] lithium litio benomyl 1-(Butylcarbamoyl)-2-benzimidazol-methylcarbamat 1-(N-Butylcarbamoyl)-2-(methoxy-carboxamido)-benzimidazol 17804-35-2 23900 A benzimidazolamine pesticide that has formula C14H18N4O3. A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath. A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C14H18N4O3][accessDate: 05-04-2011] Benlate C14 Urea C14 Urea[accessedResource: C14H18N4O3][accessDate: 05-04-2011] C14H18N4O3 C14H18N4O3 CCCCNC(=O)n1c(NC(=O)OC)nc2ccccc12 InChI=1/C14H18N4O3/c1-3-4-9-15-13(19)18-11-8-6-5-7-10(11)16-12(18)17-14(20)21-2/h5-8H,3-4,9H2,1-2H3,(H,15,19)(H,16,17,20)/f/h15,17H InChIKey=RIOXQFHNBCKOKP-KJQBJTEXCD Pytest Pytest[accessedResource: C14H18N4O3][accessDate: 05-04-2011] UREA, C-14 UREA, C-14[accessedResource: C14H18N4O3][accessDate: 05-04-2011] Urea C-14 Urea C-14[accessedResource: C14H18N4O3][accessDate: 05-04-2011] methyl [1-(butylcarbamoyl)-1H-benzimidazol-2-yl]carbamate methyl {1-[(butylamino)carbonyl]-1H-benzimidazol-2-yl}carbamate benzbromarone (3,5-dibromo-4-hydroxyphenyl)(2-ethyl-1-benzofuran-3-yl)methanone 2-ethyl-3-(3,5-dibrom-4-hydroxybenzoyl)benzofuran 3,5-dibromo-4-hydroxyphenyl-2-ethyl-3-benzofuranyl ketone Beilstein:273668 Benzbromarone C17H12Br2O3 CCc1oc2ccccc2c1C(=O)c1cc(Br)c(O)c(Br)c1 ChEMBL:474182 ChemIDplus:3562-84-3 Class imported / merged by efoimporter InChI=1S/C17H12Br2O3/c1-2-13-15(10-5-3-4-6-14(10)22-13)16(20)9-7-11(18)17(21)12(19)8-9/h3-8,21H,2H2,1H3 InChIKey=WHQCHUCQKNIQEC-UHFFFAOYSA-N KEGG DRUG:3562-84-3 KEGG DRUG:D01056 Uroleap (TN) antimony(0) Antimony, metallic ChemIDplus:7440-36-0 Class imported / merged by efoimporter Gmelin:16305 Sb Sb(0) Sbn Stibium metallicum antimony antimony(0) 2,2'-bipyridine 2,2'-Bipyridin 2,2'-bipyridyl 2,2'-dipyridine 2,2'-dipyridyl 2-(2-pyridyl)pyridine A bipyridine that has formula C10H8N2. C10H8N2 CHEBI_30351 Ele Holloway InChI=1/C10H8N2/c1-3-7-11-9(5-1)10-6-2-4-8-12-10/h1-8H InChIKey=ROFVEXUMMXZLPA-UHFFFAOYAP Tomasz Adamusiak alpha,alpha'-bipyridine alpha,alpha'-bipyridyl alpha,alpha'-dipyridine alpha,alpha'-dipyridyl bpy c1ccc(nc1)-c1ccccn1 http://www.ebi.ac.uk/efo/EFO_0002723 benzo(a)pyrene diolepoxide 1 11-Eicosenoic Acid 11-Eicosenoic Acid[accessedResource: C20H14O3][accessDate: 05-04-2011] 16779 36779 58917-67-2 7,8,8a,9a-tetrahydrobenzo[1,12]tetrapheno[10,11-b]oxirene-7,8-diol 7,8,8a,9a-tetrahydrobenzo[1,12]tetrapheno[10,11-b]oxirene-7,8-diol 7,8,8a,9a-tetrahydrobenzo[10,11]chryseno[3,4-b]oxirene-7,8-diol A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration. A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H14O3][accessDate: 05-04-2011] An epoxide that has formula C20H14O3. BDPE BP 7,8-Diol-9,10-epoxide 2 BPDE Benzo(a)pyrene diol epoxide C20:1 n-9 cis C20:1 n-9 cis[accessedResource: C20H14O3][accessDate: 05-04-2011] C20H14O3 C20H14O3 Cis-icos-11-enoic Cis-icos-11-enoic[accessedResource: C20H14O3][accessDate: 05-04-2011] Fatty Acid 20:1 n-9 Fatty Acid 20:1 n-9[accessedResource: C20H14O3][accessDate: 05-04-2011] Gondoic Acid Gondoic Acid[accessedResource: C20H14O3][accessDate: 05-04-2011] InChI=1/C20H14O3/c21-17-13-8-11-5-4-9-2-1-3-10-6-7-12(15(11)14(9)10)16(13)19-20(23-19)18(17)22/h1-8,17-22H InChIKey=DQEPMTIXHXSFOR-UHFFFAOYAD OC1C(O)c2cc3ccc4cccc5ccc(c2C2OC12)c3c45 benzo[a]pyrene diol epoxide I diarsenic trioxide Acide arsenieux Anhydride arsenieux Arsenic blanc Arsenic trioxide Arsenigen saure Arsenous oxide Arsenous oxide anhydride As2O3 As4O6 ChemIDplus:1327-53-3 Class imported / merged by efoimporter Diarsenic oxide DrugBank:DB01169 Gmelin:35185 InChI=1S/As4O6/c5-1-6-3-8-2(5)9-4(7-1)10-3 InChIKey=KTTMEOWBIWLMSE-UHFFFAOYSA-N KEGG DRUG:D02106 NIST Chemistry WebBook:1327-53-3 O1[As]2O[As]3O[As]1O[As](O2)O3 Reaxys:16502683 White arsenic Wikipedia:Arsenic_trioxide arsenic(III) oxide diarsenic trioxide tricyclo[3.3.1.1(3,7)]tetraarsoxane thyroxine 2-amino-3-[4-(4-hydroxy-3,5-diiodophenoxy)-3,5-diiodophenyl]propanoic acid Beilstein:2228514 C15H11I4NO4 ChemIDplus:300-30-1 CiteXplore:15206581 DL-Thyroxine InChI=1S/C15H11I4NO4/c16-8-4-7(5-9(17)13(8)21)24-14-10(18)1-6(2-11(14)19)3-12(20)15(22)23/h1-2,4-5,12,21H,3,20H2,(H,22,23) InChIKey=XUIIKFGFIJCVMT-UHFFFAOYSA-N NC(Cc1cc(I)c(Oc2cc(I)c(O)c(I)c2)c(I)c1)C(O)=O O-(4-Hydroxy-3,5-diiodophenyl)-3,5-diiodo-DL-tyrosine Thx true ethylene glycol 1,2-Dihydroxyethane 1,2-Ethanediol 107-21-1 2-Hydroxyethanol 20597 597 A 1,2-glycol compound produced via reaction of ethylene oxide with water. C2 Mouse C2 Mouse[accessedResource: C2H6O2][accessDate: 05-04-2011] C2H6O2 C2H6O2 C2[accessedResource: C2H6O2][accessDate: 05-04-2011] Ethane-1,2-diol Ethanediol Glycol HO-CH2-CH2-OH InChI=1/C2H6O2/c3-1-2-4/h3-4H,1-2H2 InChIKey=LYCAIKOWRPUZTN-UHFFFAOYAD Monoethylene glycol OCCO ethylene glycol benzoic acid 143 20143 65-85-0 A compound comprising a benzene ring core carrying a carboxylic acid substituent. Benzenecarboxylic acid Benzoesaeure C7 C7H6O2 C7H6O2 C7[accessedResource: C7H6O2][accessDate: 05-04-2011] CRG-2 CRG-2[accessedResource: C7H6O2][accessDate: 05-04-2011] CXCL10 wt Allele CXCL10 wt Allele[accessedResource: C7H6O2][accessDate: 05-04-2011] Chemokine (C-X-C Motif) Ligand 10 wt Allele Chemokine (C-X-C Motif) Ligand 10 wt Allele[accessedResource: C7H6O2][accessDate: 05-04-2011] Dracylic acid Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression. Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.[accessedResource: C7H6O2][accessDate: 05-04-2011] IFI10 IFI10[accessedResource: C7H6O2][accessDate: 05-04-2011] INP10 INP10[accessedResource: C7H6O2][accessDate: 05-04-2011] IP-10 IP-10[accessedResource: C7H6O2][accessDate: 05-04-2011] InChI=1/C7H6O2/c8-7(9)6-4-2-1-3-5-6/h1-5H,(H,8,9)/f/h8H InChIKey=WPYMKLBDIGXBTP-FZOZFQFYCI MOB-1 MOB-1[accessedResource: C7H6O2][accessDate: 05-04-2011] OC(=O)c1ccccc1 Phenylformic acid SCYB10 SCYB10[accessedResource: C7H6O2][accessDate: 05-04-2011] acide benzoique benzoic acid gIP-10 gIP-10[accessedResource: C7H6O2][accessDate: 05-04-2011] bicalutamide (2R)-N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methylpropanamide An amide that has formula C18H14F4N2O4S. C18H14F4N2O4S CHEBI_3090 C[C@](O)(CS(=O)(=O)c1ccc(F)cc1)C(=O)Nc1ccc(C#N)c(c1)C(F)(F)F C[C@](O)(CS(=O)(=O)c1ccc(F)cc1)C(=O)Nc2ccc(C#N)c(c2)C(F)(F)F Casodex InChI=1/C18H14F4N2O4S/c1-17(26,10-29(27,28)14-6-3-12(19)4-7-14)16(25)24-13-5-2-11(9-23)15(8-13)18(20,21)22/h2-8,26H,10H2,1H3,(H,24,25)/t17-/m0/s1/f/h24H InChIKey=LKJPYSCBVHEWIU-ARSKLOKFDL James Malone bicalutamida bicalutamidum http://www.ebi.ac.uk/efo/EFO_0002006 glucitol C6H14O6 CHEBI_30911 Sorbitol gulitol http://www.ebi.ac.uk/efo/EFO_0001543 rel-(2R,3R,4R,5S)-hexane-1,2,3,4,5,6-hexol bicuculline (6R)-6-[(5S)-6-methyl-5,6,7,8-tetrahydro[1,3]dioxolo[4,5-g]isoquinolin-5-yl]furo[3,4-e][1,3]benzodioxol-8(6H)-one Bicculine Bicucullin Bicuculline is a light-sensitive competitive antagonist of GABAA receptors. It was originally identified in 1932 in plant alkaloid extracts and has been isolated from Dicentra cucullaria, Adlumia fungosa, Fumariaceae, and several Corydalis species. C20H17NO6 CHEBI_3092 Ele Holloway InChI=1/C20H17NO6/c1-21-5-4-10-6-14-15(25-8-24-14)7-12(10)17(21)18-11-2-3-13-19(26-9-23-13)16(11)20(22)27-18/h2-3,6-7,17-18H,4-5,8-9H2,1H3/t17-,18+/m0/s1 InChIKey=IYGYMKDQCDOMRE-ZWKOTPCHBP Tomasz Adamusiak [H][C@]1(OC(=O)c2c3OCOc3ccc12)[C@@]1([H])N(C)CCc2cc3OCOc3cc12 d-Bicuculline http://www.ebi.ac.uk/efo/EFO_0002725 apomorphine hydrochloride (6aR)-5,6,6a,7-Tetrahydro-6-methyl-4H-dibenzo(de,g)chinolin-10,11-diol hydrochlorid 6abeta-Aporphine-10,11-diol hydrochloride hemihydrate Apmorphine hydrochloride hemihydrate Apomorphin hydrochlorid wasser (2/1) Apomorphine HCl Jon Ison R-(-)-apomorphine hydrochloride http://www.ebi.ac.uk/efo/EFO_0003221 DrugBank:DB00714 "DrugBank" ChemIDplus:41372-20-7 "CAS Registry Number" 6abeta-Aporphine-10,11-diol hydrochloride hemihydrate Apmorphine hydrochloride hemihydrate "A hydrate that has formula C34H38Cl2N2O5." [] KEGG DRUG:D02004 "KEGG DRUG" Apomorphine HCl Apomorphin hydrochlorid wasser (2/1) (6aR)-5,6,6a,7-Tetrahydro-6-methyl-4H-dibenzo(de,g)chinolin-10,11-diol hydrochlorid (6aR)-5,6,6a,7-Tetrahydro-6-methyl-4H-dibenzo(de,g)chinolin-10,11-diol hydrochlorid Apmorphine hydrochloride hemihydrate 6abeta-Aporphine-10,11-diol hydrochloride hemihydrate Apomorphine HCl Apomorphin hydrochlorid wasser (2/1) carboplatin (SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum A platinum coordination entity that has formula C6H12N2O4Pt. C6H12N2O4Pt C6H6O4Pt.2H3N InChI=1/C6H8O4.2H3N.Pt/c7-4(8)6(5(9)10)2-1-3-6;;;/h1-3H2,(H,7,8)(H,9,10);2*1H3;/q;;;+2/p-2/fC6H6O4.2H3N.Pt/q-2;;;m InChIKey=OLESAACUTLOWQZ-DRGNIJNRCF Paraplatin [H][N]([H])([H])[Pt]1(OC(=O)C2(CCC2)C(=O)O1)[N]([H])([H])[H] cbdca cis-(1,1-cyclobutanedicarboxylato)diammineplatinum(II) cis-diammine(1,1-cyclobutanedicarboxylato)platinum cis-diammine(1,1-cyclobutanedicarboxylato)platinum(II) bleomycin A2 (betaR)-N(alpha)-{[6-amino-2-((1S)-3-amino-1-{[(2S)-2,3-diamino-3-oxopropyl]amino}-3-oxopropyl)-5-methylpyrimidin-4-yl]carbonyl}-beta-{2-O-[3-O-(aminocarbonyl)-alpha-D-mannopyranosyl]-alpha-L-gulopyranosyloxy}-N-[(1R,2S,3S)-5-({(1S,2R)-1-[({2-[4-({[3-(dimethylsulfonio)propyl]amino}carbonyl)-2,4'-bi-1,3-thiazol-2'-yl]ethyl}amino)carbonyl]-2-hydroxypropyl}amino)-3-hydroxy-4-methyl-5-oxopentan-2-yl]-L-histidinamide A bleomycin that has formula C55H84N17O21S3. C55H84N17O21S3 CHEBI_3139 InChI=1/C55H83N17O21S3/c1-20-33(69-46(72-44(20)58)25(12-31(57)76)64-13-24(56)45(59)82)50(86)71-35(41(26-14-61-19-65-26)91-54-43(39(80)37(78)29(15-73)90-54)92-53-40(81)42(93-55(60)88)38(79)30(16-74)89-53)51(87)66-22(3)36(77)21(2)47(83)70-34(23(4)75)49(85)63-10-8-32-67-28(18-94-32)52-68-27(17-95-52)48(84)62-9-7-11-96(5)6/h14,17-19,21-25,29-30,34-43,53-54,64,73-75,77-81H,7-13,15-16,56H2,1-6H3,(H13-,57,58,59,60,61,62,63,65,66,69,70,71,72,76,82,83,84,85,86,87,88)/p+1/t21-,22+,23+,24-,25-,29-,30+,34-,35-,36-,37+,38+,39-,40-,41-,42-,43-,53+,54-/m0/s1/fC55H84N17O21S3/h61-63,66,70-71H,57-60H2/q+1 InChIKey=OYVAGSVQBOHSSS-IIMGSDJHDB N(1)-[3-(dimethylsulfonio)propyl]bleomycinamide [H][C@](C)(NC(=O)[C@@]([H])(NC(=O)c1nc(nc(N)c1C)[C@H](CC(N)=O)NC[C@H](N)C(N)=O)[C@@]([H])(O[C@@H]1O[C@@H](CO)[C@@H](O)[C@H](O)[C@@H]1O[C@H]1O[C@H](CO)[C@@H](O)[C@H](OC(N)=O)[C@@H]1O)c1c[nH]cn1)[C@@H](O)[C@H](C)C(=O)N[C@]([H])(C(=O)NCCc1nc(cs1)-c1nc(cs1)C(=O)NCCC[S+](C)C)[C@@]([H])(C)O http://www.ebi.ac.uk/efo/EFO_0001494 true fasudil hydrochloride CHEBI_31593 Ele Holloway James Malone http://www.ebi.ac.uk/efo/EFO_0002407 ferric ammonium citrate Class imported / merged by efoimporter E381 Ele Holloway James Malone KEGG DRUG:1185-57-5 KEGG DRUG:D01644 Reaxys:14508930 Tomasz Adamusiak Wikipedia:Ammonium_ferric_citrate ammonium ferric citrate ammonium iron(III) citrate http://www.ebi.ac.uk/efo/EFO_0003274 fulvestrant 7alpha-{9-[(4,4,5,5,5-pentafluoropentyl)sulfinyl]nonyl}estra-1(10),2,4-triene-3,17beta-diol A 3-hydroxy steroid that has formula C32H47F5O3S. C32H47F5O3S CHEBI_31638 InChI=1/C32H47F5O3S/c1-30-17-15-26-25-12-11-24(38)21-23(25)20-22(29(26)27(30)13-14-28(30)39)10-7-5-3-2-4-6-8-18-41(40)19-9-16-31(33,34)32(35,36)37/h11-12,21-22,26-29,38-39H,2-10,13-20H2,1H3/t22-,26-,27+,28+,29?,30+,41?/m1/s1 InChIKey=VWUXBMIQPBEWFH-LQKBAPIOBA James Malone [H][C@]12CC[C@]3(C)[C@@H](O)CC[C@@]3([H])C1[C@H](CCCCCCCCCS(=O)CCCC(F)(F)C(F)(F)F)Cc4cc(O)ccc24 http://www.ebi.ac.uk/efo/EFO_0001540 imatinib methanesulfonate 4-[(4-methylpiperazin-1-yl)methyl]-N-{4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl}benzamide methanesulfonate Beilstein:10229624 C29H31N7O.CH4O3S C30H35N7O4S CS(O)(=O)=O.CN1CCN(CC1)Cc1ccc(cc1)C(=O)Nc1ccc(C)c(Nc2nccc(n2)-c2cccnc2)c1 ChEMBL:585100 ChemIDplus:220127-57-1 Class imported / merged by efoimporter DrugBank:DB00619 Gleevec Glivec InChI=1S/C29H31N7O.CH4O3S/c1-21-5-10-25(18-27(21)34-29-31-13-11-26(33-29)24-4-3-12-30-19-24)32-28(37)23-8-6-22(7-9-23)20-36-16-14-35(2)15-17-36;1-5(2,3)4/h3-13,18-19H,14-17,20H2,1-2H3,(H,32,37)(H,31,33,34);1H3,(H,2,3,4) InChIKey=YLMAHDNUQAMNNX-UHFFFAOYSA-N KEGG DRUG:220127-57-1 KEGG DRUG:D01441 Patent:WO2004106326 Patent:WO9903854 imatinib mesilate imatinib mesylate imatinib methansulfonate kainic acid (2S-(2alpha,3beta,4beta))-2-carboxy-4-(1-methylethenyl)-3-pyrrolidineacetic acid (3S,4R)-3-(carboxymethyl)-4-(prop-1-en-2-yl)-L-proline A pyrrolidinemonocarboxylic acid that has formula C10H15NO4. CC(=C)[C@H]1CN[C@@H]([C@H]1CC(O)=O)C(O)=O CHEBI_31746 Digenin Digensaeure Helminal InChI=1/C10H15NO4/c1-5(2)7-4-11-9(10(14)15)6(7)3-8(12)13/h6-7,9,11H,1,3-4H2,2H3,(H,12,13)(H,14,15)/t6-,7+,9-/m0/s1/f/h12,14H InChIKey=VLSMHEGGTFMBBZ-WODSAOQMDB James Malone Kainsaeure L-alpha-kainic acid acide kainique acido kainico acidum kainicum alpha-Kainic acid digenic acid http://www.ebi.ac.uk/efo/EFO_0001561 bromobenzene Beilstein:1236661 Brc1ccccc1 Bromobenzene C6H5Br ChEMBL:116605 Class imported / merged by efoimporter InChI=1S/C6H5Br/c7-6-4-2-1-3-5-6/h1-5H InChIKey=QARVLSVVCXYDNA-UHFFFAOYSA-N KEGG COMPOUND:108-86-1 KEGG COMPOUND:C11036 MetaCyc:BROMOBENZENE Monobromobenzene PhBr Phenyl bromide Reaxys:1236661 Wikipedia:Bromobenzene bromobenzene bromocriptine methanesulfonate (5'alpha)-2-bromo-12'-hydroxy-5'-(2-methylpropyl)-2'-(propan-2-yl)-3',6',18-trioxoergotaman methanesulfonate (5'alpha)-2-bromo-12'-hydroxy-5'-(2-methylpropyl)-3',6',18-trioxo-2'-(propan-2-yl)ergotaman methanesulfonate (salt) (5'alpha)-2-bromo-12'-hydroxy-5'-isobutyl-2'-isopropyl-3',6',18-trioxoergotaman methanesulfonate 2-bromo-alpha-ergocryptine mesylate 20197 22260-51-1 4F9 4F9[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] A methanesulfonate salt that has formula C33H44BrN5O8S. C32H40BrN5O5.CH4O3S C33 C33H44BrN5O8S C33H44BrN5O8S C33[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] CD82 CD82 Antigen wt Allele CD82 Antigen wt Allele[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] CD82 wt Allele CD82 wt Allele[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] CD82[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] CS(O)(=O)=O.[H][C@@]12Cc3c(Br)[nH]c4cccc(C1=C[C@H](CN2C)C(=O)N[C@@]1(O[C@]2(O)N([C@@H](CC(C)C)C(=O)N5CCC[C@@]25[H])C1=O)C(C)C)c34 GR15 GR15[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression. Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression.[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] IA4 IA4[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] InChI=1/C32H40BrN5O5.CH4O3S/c1-16(2)12-24-29(40)37-11-7-10-25(37)32(42)38(24)30(41)31(43-32,17(3)4)35-28(39)18-13-20-19-8-6-9-22-26(19)21(27(33)34-22)14-23(20)36(5)15-18;1-5(2,3)4/h6,8-9,13,16-18,23-25,34,42H,7,10-12,14-15H2,1-5H3,(H,35,39);1H3,(H,2,3,4)/t18-,23-,24+,25+,31-,32+;/m1./s1/f/h35H;2H InChIKey=NOJMTMIRQRDZMT-MXTIOCAADG KAI1 KAI1 Gene KAI1 Gene[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] KAI1[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] Parlodel Pravidel R2[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] SAR2 SAR2[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] ST6 ST6[accessedResource: C33H44BrN5O8S][accessDate: 05-04-2011] bromocriptine mesilate bromocriptine mesylate mercury dichloride ChEMBL:898244 ChemIDplus:7487-94-7 CiteXplore:7980848 CiteXplore:8991630 Cl2Hg ClHgCl Cl[Hg]Cl Class imported / merged by efoimporter Gmelin:100830 HgCl2 InChI=1S/2ClH.Hg/h2*1H;/q;;+2/p-2 InChIKey=LWJROJCJINYWOX-UHFFFAOYSA-L James Malone KEGG COMPOUND:7487-94-7 KEGG COMPOUND:C13377 KEGG DRUG:D01905 Mercuric chloride NIST Chemistry WebBook:7487-94-7 Quecksilber(II)-chlorid Reaxys:4937255 Sublimat Sulema bichlorure de mercure chlorure mercurique corrosive mercury chloride corrosive sublimate dichloromercury dichlorure de mercure http://www.ebi.ac.uk/efo/EFO_0001671 hydrargyrum bichloratum mercuric bichloride mercuric chloride mercury bichloride mercury dichloride mercury perchloride mercury(2+) chloride mercury(II) chloride perchloride of mercury sublimate N-methyl-D-aspartic acid (R)-2-Methylamino-succinic acid 2-Methylamino-succinic acid An aspartic acid derivative having an N-methyl substituent and D-configuration. C5H9NO4 CHEBI_31882 CN[C@H](CC(O)=O)C(O)=O Ele Holloway InChI=1/C5H9NO4/c1-6-3(5(9)10)2-4(7)8/h3,6H,2H2,1H3,(H,7,8)(H,9,10)/t3-/m1/s1/f/h7,9H InChIKey=HOKKHZGPKSLGJE-VCKMXKKJDP Methyl aspartic acid N-Methyl aspartic acid N-Methyl-D-aspartate N-Methylaspartate NMDA Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002731 nemonapride ChemIDplus:75272-39-8 CiteXplore:10049714 CiteXplore:10363800 CiteXplore:10435376 CiteXplore:10587100 CiteXplore:10823405 CiteXplore:10862524 CiteXplore:10898926 CiteXplore:10917400 CiteXplore:11817505 CiteXplore:11929700 CiteXplore:16020947 CiteXplore:9095318 CiteXplore:9228185 CiteXplore:9310388 CiteXplore:9325557 CiteXplore:9369342 CiteXplore:9766869 CiteXplore:9774248 CiteXplore:9934942 Class imported / merged by efoimporter Ele Holloway James Malone KEGG COMPOUND:75272-39-8 KEGG COMPOUND:C12915 KEGG DRUG:D01468 Patent:EP1273301 Patent:US5811547 Reaxys:5766104 Tomasz Adamusiak Wikipedia:Nemonapride http://www.ebi.ac.uk/efo/EFO_0003209 nemonapride rac--N-[(2S,3S)-1-benzyl-2-methylpyrrolidin-3-yl]-5-chloro-2-methoxy-4-(methylamino)benzamide oxaliplatin (SP-4-2)[(1R,2R)-cyclohexane-1,2-diamine-kappa(2)N,N'][ethanedioato(2-)-kappa(2)O(1),O(2)]platinum (SP-4-2-(1R-trans))-(1,2-cyclohexanediamine-N,N')(ethanedioato(2-)-O,O')platinum 16760 36760 61825-94-3 A platinum coordination entity that has formula C6H14N2.C2O4.Pt. C6H14N2.C2O4.Pt C8H12N2O4Pt C8H14N2O4Pt CP25 CP25[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Eloxatin Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI) HHO.C8 HHO.C8[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] HOX3C HOX3C[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] HOXC6 HOXC6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein 3C Homeobox Protein 3C[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein C6 Homeobox Protein C6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein C8 Homeobox Protein C8[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein CP25 Homeobox Protein CP25[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein HHO.C8 Homeobox Protein HHO.C8[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein HOXC6 Homeobox Protein HOXC6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein Hox-3C Homeobox Protein Hox-3C[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox Protein Hox-C6 Homeobox Protein Hox-C6[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development. Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H12N2O4Pt][accessDate: 05-04-2011] InChI=1/C6H14N2.C2H2O4.Pt/c7-5-3-1-2-4-6(5)8;3-1(4)2(5)6;/h5-6H,1-4,7-8H2;(H,3,4)(H,5,6);/q;;+2/p-2/t5-,6-;;/m1../s1/fC6H14N2.C2O4.Pt/q;-2;m InChIKey=ZROHGHOFXNOHSO-BEODOYRGDF [(1R,2R)-cyclohexane-1,2-diamine-k2N,N'][ethanedioato(2-)-k2O1,O2]platinum [H][N]1([H])[C@@H]2CCCC[C@H]2[N]([H])([H])[Pt]13OC(=O)C(=O)O3 oxalato(1,2-diaminocyclohexane)platinum(II) oxaliplatine oxaliplatino oxaliplatinum phenol red 143-74-8 22408 2408 3,3-bis(p-hydroxyphenyl)-3H-2,1-benzoxathiole 1,1-dioxide 3H-2,1-Benzoxathiole 1,1-dioxide in which both of the hydrogens at position 3 have been substituted by 4-hydroxyphenyl groups. A pH indicator changing colour from yellow below pH 6.8 to bright pink above pH 8.2, it is commonly used as an indicator in cell cultures and in home swimming pool test kits. It is also used in the (now infrequently performed) phenolsulfonphthalein (PSP) test for estimation of overall blood flow through the kidney. 4,4'-(1,1-dioxido-3H-2,1-benzoxathiole-3,3-diyl)diphenol 4,4'-(1,1-dioxido-3H-2,1-benzoxathiole-3,3-diyl)diphenol 4,4'-(3H-2,1-benzoxathiol-3-ylidene)bisphenol S,S-dioxide C19H14O5S C19H14O5S Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst. Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H14O5S][accessDate: 05-04-2011] InChI=1/C19H14O5S/c20-15-9-5-13(6-10-15)19(14-7-11-16(21)12-8-14)17-3-1-2-4-18(17)25(22,23)24-19/h1-12,20-21H InChIKey=BELBBZDIHDAJOR-UHFFFAOYAB Oc1ccc(cc1)C1(OS(=O)(=O)c2ccccc12)c1ccc(O)cc1 PSP Phenolsulfonphthalein Proto-Oncogene TRE-2 Proto-Oncogene TRE-2[accessedResource: C19H14O5S][accessDate: 05-04-2011] TRE-2 Gene TRE-2 Gene[accessedResource: C19H14O5S][accessDate: 05-04-2011] USP6 wt Allele USP6 wt Allele[accessedResource: C19H14O5S][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H14O5S][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 Gene Ubiquitin Specific Protease 6 Gene[accessedResource: C19H14O5S][accessDate: 05-04-2011] alpha-hydroxy-alpha,alpha-bis(p-hydroxyphenyl)-o-toluenesulfonic acid gamma-sultone potassium bromide 03/02/7758 A metal bromide salt with a K(+) counterion. BrK InChI=1/BrH.K/h1H;/q;+1/p-1/fBr.K/h1h;/q-1;m InChIKey=IOLCXVTUBQKXJR-RDJZLEBZCI KBr Kaliumbromid propylparaben 4-Hydroxybenzoic acid propyl ester 4-Hydroxybenzoic acid, propyl ester C10H12O3 CCCOC(=O)c1ccc(O)cc1 ChEMBL:428157 CiteXplore:21492176 CiteXplore:21549034 CiteXplore:21608130 CiteXplore:21645663 CiteXplore:21705745 CiteXplore:21886901 CiteXplore:22165009 CiteXplore:22177019 CiteXplore:22220814 CiteXplore:22237600 CiteXplore:22249112 CiteXplore:22305363 CiteXplore:22337803 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H12O3/c1-2-7-13-10(12)8-3-5-9(11)6-4-8/h3-6,11H,2,7H2,1H3 InChIKey=QELSKZZBTMNZEB-UHFFFAOYSA-N James Malone KEGG DRUG:94-13-3 KEGG DRUG:D01422 Propyl p-hydroxybenzoate Propyl parahydroxybenzoate Reaxys:1103245 Tomasz Adamusiak Wikipedia:Propylparaben http://www.ebi.ac.uk/efo/EFO_0003293 n-Propyl 4-hydroxybenzoate n-Propyl p-hydroxybenzoate p-Hydroxybenzoic acid propyl ester p-Hydroxybenzoic propyl ester p-Hydroxypropyl benzoate p-Oxybenzoesaeurepropylester propyl 4-hydroxybenzoate propyl paraben sapropterin dihydrochloride (6R)-2-amino-6-[(1R,2S)-1,2-dihydroxypropyl]-5,6,7,8-tetrahydropteridin-4(3H)-one dihydrochloride (6R)-tetrahydrobiopterin dihydrochloride (6R)-tetrahydrobiopterin hydrochloride Beilstein:4613446 C9H17Cl2N5O3 ChEMBL:775726 ChemIDplus:69056-38-8 CiteXplore:20179079 CiteXplore:20206791 CiteXplore:20418136 CiteXplore:20556789 CiteXplore:20667834 CiteXplore:20714359 CiteXplore:20830319 CiteXplore:21077779 CiteXplore:21645517 CiteXplore:21646032 CiteXplore:21967857 CiteXplore:22112818 CiteXplore:22310224 Cl.Cl.[H][C@@]1(CNc2nc(N)[nH]c(=O)c2N1)[C@@H](O)[C@H](C)O Class imported / merged by efoimporter Ele Holloway InChI=1S/C9H15N5O3.2ClH/c1-3(15)6(16)4-2-11-7-5(12-4)8(17)14-9(10)13-7;;/h3-4,6,12,15-16H,2H2,1H3,(H4,10,11,13,14,17);2*1H/t3-,4+,6-;;/m0../s1 InChIKey=RKSUYBCOVNCALL-NTVURLEBSA-N James Malone KEGG DRUG:69056-38-8 KEGG DRUG:D01798 Reaxys:12490572 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003193 sapropterin 2HCl sapropterin dihydrochloride sapropterin hydrochloride sodium hydroxide Aetznatron ChemIDplus:1310-73-2 Class imported / merged by efoimporter Gmelin:68430 HNaO InChI=1S/Na.H2O/h;1H2/q+1;/p-1 InChIKey=HEMHJVSKTPXQMS-UHFFFAOYSA-M KEGG COMPOUND:1310-73-2 KEGG COMPOUND:C12569 NIST Chemistry WebBook:1310-73-2 NaOH Natriumhydroxid Sodium hydroxide [OH-].[Na+] caustic soda hydroxyde de sodium soda lye sodium hydrate sodium hydroxide soude caustique sulpiride (+-)-sulpiride 5-(Aminosulfonyl)-N-((1-ethyl-2-pyrrolidinyl)methyl)-2-methoxybenzamide C15H23N3O4S CCN1CCCC1CNC(=O)c1cc(ccc1OC)S(N)(=O)=O ChEMBL:101333 ChemIDplus:15676-16-1 CiteXplore:16327907 CiteXplore:16924461 CiteXplore:17912501 CiteXplore:17942035 CiteXplore:18757738 CiteXplore:18985321 CiteXplore:19370694 CiteXplore:19546258 CiteXplore:19672580 CiteXplore:19864199 CiteXplore:19941957 CiteXplore:20061345 CiteXplore:20091661 CiteXplore:20177884 CiteXplore:20304506 CiteXplore:20305607 CiteXplore:20538381 CiteXplore:20599913 CiteXplore:20875676 Class imported / merged by efoimporter DrugBank:DB00391 InChI=1S/C15H23N3O4S/c1-3-18-8-4-5-11(18)10-17-15(19)13-9-12(23(16,20)21)6-7-14(13)22-2/h6-7,9,11H,3-5,8,10H2,1-2H3,(H,17,19)(H2,16,20,21) InChIKey=BGRJTUBHPOOWDU-UHFFFAOYSA-N KEGG DRUG:15676-16-1 KEGG DRUG:D01226 N-((1-Ethyl-2-pyrrolidinyl)methyl)-2-methoxy-5-sulfamoylbenzamide N-((1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide N-[(1-ethylpyrrolidin-2-yl)methyl]-2-methoxy-5-sulfamoylbenzamide NIST Chemistry WebBook:15676-16-1 Patent:DE2903891 Patent:US3342826 Reaxys:494008 Sulpirid Sulpyrid Wikipedia:Sulpiride sulpirida sulpiride sulpiridum butein (2E)-1-(2,4-dihydroxyphenyl)-3-(3,4-dihydroxyphenyl)prop-2-en-1-one (E)-1-(2,4-dihydroxyphenyl)-3-(3,4-dihydroxyphenyl)prop-2-en-1-one (E)-2',3,4,4'-terahydroxychalcone 2',3,4,4'-Tetrahydroxychalcone 3,4,2',4'-Tetrahydroxychalcone Butein C15H12O5 ChEMBL:310267 ChemIDplus:487-52-5 CiteXplore:19643530 CiteXplore:20515942 CiteXplore:20681544 CiteXplore:20696233 CiteXplore:20826149 CiteXplore:21131551 CiteXplore:21170936 CiteXplore:21212525 CiteXplore:21770460 CiteXplore:21964506 CiteXplore:22114764 CiteXplore:22155143 CiteXplore:22180353 CiteXplore:22185775 CiteXplore:22245810 Class imported / merged by efoimporter Ele Holloway InChI=1S/C15H12O5/c16-10-3-4-11(14(19)8-10)12(17)5-1-9-2-6-13(18)15(20)7-9/h1-8,16,18-20H/b5-1+ InChIKey=AYMYWHCQALZEGT-ORCRQEGFSA-N James Malone KEGG COMPOUND:487-52-5 KEGG COMPOUND:C08578 LIPID MAPS:LMPK12120111 Oc1ccc(C(=O)\\C=C\\c2ccc(O)c(O)c2)c(O)c1 Reaxys:2056928 Tomasz Adamusiak Wikipedia:Butein http://www.ebi.ac.uk/efo/EFO_0003202 thioacetamide Acetothioamide Beilstein:506006 C2H5NS CC(N)=S ChEMBL:156928 ChemIDplus:62-55-5 CiteXplore:20138653 CiteXplore:20534638 CiteXplore:20931291 CiteXplore:21182490 CiteXplore:21455425 CiteXplore:21489598 CiteXplore:21647311 CiteXplore:21699073 CiteXplore:21733084 CiteXplore:21733883 CiteXplore:21749370 Class imported / merged by efoimporter InChI=1S/C2H5NS/c1-2(3)4/h1H3,(H2,3,4) InChIKey=YUKQRDCYNOVPGJ-UHFFFAOYSA-N NIST Chemistry WebBook:62-55-5 Reaxys:506006 TAA Thiacetamide Thioacetimidic acid Thioactamide acetic acid thioamide ethanethioamide methylthioamide pirinixic acid ((4-Chloro-6-((2,3-dimethylphenyl)amino)-2-pyrimidinyl)thio)acetic acid (4-Chloro-6-(2,3-xylidino)-2-pyrimidinylthio)acetic acid ({4-chloro-6-[(2,3-dimethylphenyl)amino]pyrimidin-2-yl}sulfanyl)acetic acid C14H14ClN3O2S Cc1cccc(Nc2cc(Cl)nc(SCC(O)=O)n2)c1C ChEMBL:162864 ChemIDplus:50892-23-4 Class imported / merged by efoimporter InChI=1S/C14H14ClN3O2S/c1-8-4-3-5-10(9(8)2)16-12-6-11(15)17-14(18-12)21-7-13(19)20/h3-6H,7H2,1-2H3,(H,19,20)(H,16,17,18) InChIKey=SZRPDCCEHVWOJX-UHFFFAOYSA-N WY-14,643 Wikipedia:Pirinixic_Acid http://www.ebi.ac.uk/efo/EFO_0001593 4-hydroxy-2-nonenal 4-Hydroxy-2,3-nonenal 4-Hydroxynonenal 4-hydroxynon-2-enal A hydroxyaldehyde that has formula C9H16O2. C9H16O2 CHEBI_32585 InChI=1/C9H16O2/c1-2-3-4-6-9(11)7-5-8-10/h5,7-9,11H,2-4,6H2,1H3 InChIKey=JVJFIQYAHPMBBX-UHFFFAOYAI [H]C(=CC=O)C(O)CCCCC http://www.ebi.ac.uk/efo/EFO_0001472 potassium chloride ChEMBL:774682 ChemIDplus:7447-40-7 ClK Class imported / merged by efoimporter DrugBank:DB00761 Ele Holloway InChI=1S/ClH.K/h1H;/q;+1/p-1 InChIKey=WCUXLLCKKVVCTQ-UHFFFAOYSA-M James Malone KCl KEGG DRUG:D02060 Kaliumchlorid Kaon-Cl 10 Klor-con Klotrix MolBase:881 Monopotassium chloride NIST Chemistry WebBook:7447-40-7 Wikipedia:Potassium_Chloride [Cl-].[K+] [KCl] http://www.ebi.ac.uk/efo/EFO_0002418 muriate of potash potassium chloride sylvite piperonylbutoxide (3,4-methylenedioxy-6-propylbenzyl) (butyl) diethylene glycol ether (butylcarbityl)(6-propylpiperonyl)ether 1166 2-(2-butoxyethoxy)ethyl 6-propylpiperonyl ether 21166 5-propyl-4-(2,5,8-trioxa-dodecyl)-1,3-benzodioxole 5-{[(2-{[2-(butyloxy)ethyl]oxy}ethyl)oxy]methyl}-6-propyl-1,3-benzodioxole 5-{[2-(2-butoxyethoxy)ethoxy]methyl}-6-propyl-1,3-benzodioxole 51-03-6 6-propylpiperonyl butyl diethylene glycol ether A benzodioxole that has formula C19H30O5. C19H30O5 C19H30O5 CCCCOCCOCCOCc1cc2OCOc2cc1CCC Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst. Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H30O5][accessDate: 05-04-2011] InChI=1/C19H30O5/c1-3-5-7-20-8-9-21-10-11-22-14-17-13-19-18(23-15-24-19)12-16(17)6-4-2/h12-13H,3-11,14-15H2,1-2H3 InChIKey=FIPWRIJSWJWJAI-UHFFFAOYAD Proto-Oncogene TRE-2 Proto-Oncogene TRE-2[accessedResource: C19H30O5][accessDate: 05-04-2011] TRE-2 Gene TRE-2 Gene[accessedResource: C19H30O5][accessDate: 05-04-2011] USP6 wt Allele USP6 wt Allele[accessedResource: C19H30O5][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H30O5][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 Gene Ubiquitin Specific Protease 6 Gene[accessedResource: C19H30O5][accessDate: 05-04-2011] alpha-(2-(2-n-butoxyethoxy)-ethoxy)-4,5-methylenedioxy-2-propyltoluene alpha-[2-(2-butoxyethoxy)ethoxy]-4,5-(methylenedioxy)-2-propyltoluene butyl carbitol 6-propylpiperonyl ether piperonyl butoxide 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone 4-(N-Methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone 4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one 4-[methyl(nitroso)amino]-1-(pyridin-3-yl)butan-1-one 64091-91-4 A nitrosamine that has formula C10H13N3O2. C10H13N3O2 CN(CCCC(=O)c1cccnc1)N=O InChI=1/C10H13N3O2/c1-13(12-15)7-3-5-10(14)9-4-2-6-11-8-9/h2,4,6,8H,3,5,7H2,1H3 InChIKey=FLAQQSHRLBFIEZ-UHFFFAOYAR NNK (carcinogen) gibberellin A4 (1R,2R,5R,8R,9S,10R,11S,12S)-12-hydroxy-11-methyl-6-methylidene-16-oxo-15-oxapentacyclo[9.3.2.1(5,8).0(1,10).0(2,8)]heptadecane-9-carboxylic acid (1S,2S,4aR,4bR,7R,9aR,10S,10aR)-2-hydroxy-1-methyl-8-methylidene-13-oxododecahydro-4a,1-(epoxymethano)-7,9a-methanobenzo[a]azulene-10-carboxylic acid 2beta,4a-dihydroxy-1-methyl-8-methylene-4aalpha,4bbeta-gibbane-1alpha,10beta-dicarboxylic acid, 1,4a-lactone 2beta-hydroxy-1beta-methyl-8-methylidene-13-oxo-4a,1alpha-epoxymethano-4aalpha,4bbeta-gibbane-10beta-carboxylic acid Beilstein:46820 C19H24O5 ChemIDplus:468-44-0 Class imported / merged by efoimporter GA4 GIBBERELLIN A4 Gibberellin A4 InChI=1S/C19H24O5/c1-9-7-18-8-10(9)3-4-11(18)19-6-5-12(20)17(2,16(23)24-19)14(19)13(18)15(21)22/h10-14,20H,1,3-8H2,2H3,(H,21,22)/t10-,11-,12+,13-,14-,17-,18+,19-/m1/s1 InChIKey=RSQSQJNRHICNNH-NFMPGMCNSA-N KEGG COMPOUND:468-44-0 KEGG COMPOUND:C11864 LIPID MAPS:LMPR0104170021 PDBeChem:GA4 [H][C@]12CC[C@]3([H])[C@](CC1=C)(C2)[C@@H](C(O)=O)[C@]1([H])[C@@]2(C)[C@@H](O)CC[C@@]31OC2=O gibberellin 4 1-naphthylacetic acid 1-naphthaleneacetic acid A naphthylacetic acid that has formula C12H10O2. C12H10O2 CHEBI_32918 Ele Holloway InChI=1/C12H10O2/c13-12(14)8-10-6-3-5-9-4-1-2-7-11(9)10/h1-7H,8H2,(H,13,14)/f/h13H InChIKey=PRPINYUDVPFIRX-NDKGDYFDCS James Malone NAA NAPHTHALEN-1-YL-ACETIC ACID OC(=O)Cc1cccc2ccccc12 alpha-NAA alpha-naphthaleneacetic acid naphthalen-1-ylacetic acid naphthalene-1-acetic acid fluroanthene 206-44-0 24104 4A's Treatment Protocol 4As Treatment Protocol 4As Treatment Strategy Acoustic Acoustic[accessedResource: C16H10][accessDate: 05-04-2011] An ortho- and peri-fused polycyclic arene that has formula C16H10. C16H10 C16H10 InChI=1/C16H10/c1-2-8-13-12(7-1)14-9-3-5-11-6-4-10-15(13)16(11)14/h1-10H InChIKey=GVEPBJHOBDJJJI-UHFFFAOYAL benzo[jk]fluorene c1ccc-2c(c1)-c1cccc3cccc-2c13 fluoranthene fluoranthene P-nitrotoluene 1-methyl-4-nitrobenzene 4-Nitrotoluene 4-Nitrotoluol 4-methylnitrobenzene 99-99-0 A member of the 4-nitrotoluenes that has formula C7H7NO2. C7H7NO2 Cc1ccc(cc1)N(=O)=O InChI=1/C7H7NO2/c1-6-2-4-7(5-3-6)8(9)10/h2-5H,1H3 InChIKey=ZPTVNYMJQHSSEA-UHFFFAOYAU PNT p-methylnitrobenzene para-Nitrotoluol O-nitrotoluene 1-methyl-2-nitrobenzene 2-Nitrotoluol 2-methyl-1-nitrobenzene 2-nitrotoluene 88-72-2 A nitrotoluene that has formula C7H7NO2. C7H7NO2 Cc1ccccc1N(=O)=O InChI=1/C7H7NO2/c1-6-4-2-3-5-7(6)8(9)10/h2-5H,1H3 InChIKey=PLAZTCDQAHEYBI-UHFFFAOYAA ONT o-Nitrotoluol o-methylnitrobenzene ortho-Nitrotoluol calcium chloride An inorganic chloride salt that has formula CaCl2. CaCl2 Calcium chloride anhydrous InChI=1/Ca.2ClH/h;2*1H/q+2;;/p-2/fCa.2Cl/h;2*1h/qm;2*-1 InChIKey=UXVMQQNJUSDDNG-HQDHFEKBCV [Cl-].[Cl-].[Ca++] calcium dichloride aluminium hydroxide 21645-51-2 36405 A member of the aluminium hydroxides that has formula H3AlO3. Al(OH)3 AlH3O3 Aluminiumhydroxid Aluminum hydroxide H3AlO3 H3AlO3 InChI=1/Al.3H2O/h;3*1H2/q+3;;;/p-3/fAl.3HO/h;3*1h/qm;3*-1 InChIKey=WNROFYMDJYEPJX-BLLOLPNJCE [H]O[Al](O[H])O[H] aluminium(3+) hydroxide aluminium(III) hydroxide aluminum trihydroxide trihydroxidoaluminium vanadyl sulfate ChemIDplus:27774-13-6 Class imported / merged by efoimporter Gmelin:18096 InChI=1S/H2O4S.O.V/c1-5(2,3)4;;/h(H2,1,2,3,4);;/q;;+2/p-2 InChIKey=UUUGYDOQQLOJQA-UHFFFAOYSA-L O5SV O=[V++].[O-]S([O-])(=O)=O oxidovanadium(2+) sulfate oxo[sulfato(2-)-O]-vanadium oxo[sulfato(2-)-kappaO]-vanadium oxovanadium(2+) sulfate vanadic sulfate vanadin(IV) oxide sulfate vanadium oxide sulphate vanadium oxysulfate calicheamicin gamma1(I) C55H74IN3O21S4 Calicheamicin gamma(1)I Calichemicin gamma1 ChemIDplus:108212-75-5 CiteXplore:12606118 CiteXplore:15099529 CiteXplore:1584797 CiteXplore:2753814 Class imported / merged by efoimporter Ele Holloway InChI=1S/C55H74IN3O21S4/c1-12-57-30-24-73-35(22-34(30)68-6)78-48-43(63)40(26(3)75-53(48)77-33-17-15-13-14-16-19-55(67)23-32(61)41(58-54(66)72-10)38(33)29(55)18-20-82-84-81-11)59-80-36-21-31(60)50(28(5)74-36)83-51(65)37-25(2)39(56)46(49(71-9)45(37)69-7)79-52-44(64)47(70-8)42(62)27(4)76-52/h13-14,18,26-28,30-31,33-36,40,42-44,47-48,50,52-53,57,59-60,62-64,67H,12,20-24H2,1-11H3,(H,58,66)/b14-13-,29-18+/t26-,27-,28+,30-,31-,33-,34-,35-,36-,40+,42-,43-,44+,47+,48+,50+,52-,53-,55-/m0/s1 InChIKey=HXCHCVDVKSCDHU-LHTKNVSWSA-N James Malone KEGG COMPOUND:108212-75-5 KEGG COMPOUND:C11469 Reaxys:9894883 Tomasz Adamusiak [H][C@]1(O[C@@H]2O[C@@H](C)[C@@H](NO[C@H]3C[C@H](O)[C@H](SC(=O)c4c(C)c(I)c(O[C@@H]5O[C@@H](C)[C@H](O)[C@@H](OC)[C@H]5O)c(OC)c4OC)[C@@H](C)O3)[C@H](O)[C@H]2O[C@H]2C[C@H](OC)[C@H](CO2)NCC)C#C\\C=C/C#C[C@]2(O)CC(=O)C(NC(=O)OC)=C1/C2=C\\CSSSC calicheamicin gamma(1)I calicheamicin gamma(1,I) calicheamicin gamma1 http://www.ebi.ac.uk/efo/EFO_0003268 bisphenol A 2,2-Bis(4-Hydroxyphenyl)propane 2,2-Bis(p-hydroxyphenyl)propane 2,2-Di(4-hydroxyphenyl)propane 2,2-Di(4-phenylol)propane 4,4'-(1-Methylethylidene)bisphenol 4,4'-(propane-2,2-diyl)diphenol 4,4'-Bisphenol A 4,4'-Isopropylidenediphenol A bisphenol that has formula C15H16O2. C15H16O2 CC(C)(c1ccc(O)cc1)c1ccc(O)cc1 CHEBI_33216 InChI=1/C15H16O2/c1-15(2,11-3-7-13(16)8-4-11)12-5-9-14(17)10-6-12/h3-10,16-17H,1-2H3 InChIKey=IISBACLAFKSPIT-UHFFFAOYAI http://www.ebi.ac.uk/efo/EFO_0001493 vitamin An organic substance that is distributed in foodstuffs, is distinct from the main organic components of food (protein, carbohydrate and fat) and is needed for the normal nutrition of the organism in question. The term "vitamines" (from vita + amines) was coined in 1912 by Casimir Funk, who believed that these compounds were amines. CHEBI_33229 James Malone http://www.ebi.ac.uk/efo/EFO_0001831 vitamina vitaminas vitamine vitamines vitamins vitaminum element atom atome atomo atoms atomus elements nutrient A nutrient is a chemical element needed by all life forms. James Malone Jie Zheng MO_867 The food provided to the organism (e.g., chow, fertilizer, DEMM 10%FBS, etc.). Tomasz Adamusiak chow, fertilizer, DEMM 10%FBS http://mged.sourceforge.net/ontologies/MGEDOntology.owl#nutrients http://www.ebi.ac.uk/efo/EFO_0000628 nutrients nutrients[accessedResource: MO_867][accessDate: 05-04-2011] this should become a quality of a material i think agrochemical role An agrochemical is a substance that is used in agriculture or horticulture. CHEBI_33286 James Malone agrichemical agrichemicals agricultural chemicals agrochemicals http://www.ebi.ac.uk/efo/EFO_0001832 fertilizer candesartan 10p11.1 10p11.1[accessedResource: C24H20N6O3][accessDate: 05-04-2011] 139481-59-7 2-(ethyloxy)-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid 2-ethoxy-1-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-7-benzimidazolecarboxylic acid 2-ethoxy-1-({2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl}methyl)-1H-benzimidazole-7-carboxylic acid 2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-benzimidazole-7-carboxylic acid 2-ethoxy-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4ethyl}-1H-benzimidazole-7-carboxylic acid 22725 2725 A benzimidazolecarboxylic acid that has formula C24H20N6O3. A chromosome band present on 10p A chromosome band present on 10p[accessedResource: C24H20N6O3][accessDate: 05-04-2011] Blopress C24H20N6O3 C24H20N6O3 CCOc1nc2cccc(C(O)=O)c2n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1 CV-11974 InChI=1/C24H20N6O3/c1-2-33-24-25-20-9-5-8-19(23(31)32)21(20)30(24)14-15-10-12-16(13-11-15)17-6-3-4-7-18(17)22-26-28-29-27-22/h3-13H,2,14H2,1H3,(H,31,32)(H,26,27,28,29)/f/h26,31H InChIKey=HTQMVQVXFRQIKW-NEQLIHFBCV adrenaline (+-)-epinephrine 2-(methylamino)-1-(3,4-dihydroxyphenyl)ethanol 329-65-7 4-[1-hydroxy-2-(methylamino)ethyl]benzene-1,2-diol A catecholamine that has formula C9H13NO3. C9H13NO3 CNCC(O)c1ccc(O)c(O)c1 InChI=1/C9H13NO3/c1-10-5-9(13)6-2-3-7(11)8(12)4-6/h2-4,9-13H,5H2,1H3 InChIKey=UCTWMZQNUQWSLP-UHFFFAOYAC dl-adrenaline epinephrine racemic racepinefrina racepinefrine racepinefrinum RNA A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) (MSH) A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed) (MSH)[accessedResource: NIFSTD:sao1843715402][accessDate: 05-04-2011] High molecular weight, linear polymers, composed of nucleotides containing ribose and linked by phosphodiester bonds; RNA is central to the synthesis of proteins. James Malone Jie Zheng MO_594 NIFSTD:sao1843715402 RNA is a chemical compound which are naturally occurring polyribonucleotides. RNS Ribonukleinsaeure Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#RNA http://www.ebi.ac.uk/efo/EFO_0001454 pentosenucleic acids ribonucleic acid ribonucleic acids ribose nucleic acid yeast nucleic acid messenger RNA An RNA molecule that transfers the coding information for protein synthesis from the chromosomes to the ribosomes mRNA is formed from a DNA template by transcription. It may be a copy of a single gene or of several adjacent genes (polycistronic mRNA). On the ribosome, the sequence is converted into the programmed amino acid sequence through translation. mRNA template RNA amino acid Aminocarbonsaeure Aminokarbonsaeure Aminosaeure amino acids true captopril (2S)-1-[(2S)-2-methyl-3-sulfanylpropanoyl]pyrrolidine-2-carboxylic acid 1-[(2S)-2-methyl-3-sulfanylpropanoyl]-L-proline Acepress Apopril Beilstein:477887 C9H15NO3S CP C[C@H](CS)C(=O)N1CCC[C@H]1C(O)=O Capoten Captolane Captopryl Captoril Cesplon ChEMBL:544750 ChemIDplus:62571-86-2 CiteXplore:2420897 Class imported / merged by efoimporter D-2-methyl-3-mercaptopropanoyl-L-proline D-3-mercapto-2-methylpropanoyl-L-proline Dilabar DrugBank:DB01197 Garranil Hypertil InChI=1S/C9H15NO3S/c1-6(5-14)8(11)10-4-2-3-7(10)9(12)13/h6-7,14H,2-5H2,1H3,(H,12,13)/t6-,7+/m1/s1 InChIKey=FAKRSMQSSFJEIM-RQJHMYQMSA-N KEGG DRUG:62571-86-2 KEGG DRUG:D00251 L-Captopril Lopirin NIST Chemistry WebBook:62571-86-2 Patent:US4046889 Patent:US4105776 Tenosbon Tensobon Tensoprel Wikipedia:Captopril captopril captoprilum carbamazepine 298-46-4 5-Carbamoyl-5H-dibenzo(b,f)azepine 5-Carbamyl-5H-dibenzo(b,f)azepine 5-carbamoyl-5H-dibenz[b,f]azepine 5H-Dibenz(b,f)azepine-5-carboxamide 5H-dibenzo[b,f]azepine-5-carboxamide An iminostilbene derivative with a carbamoyl group at the azepine nitrogen, used as an anticonvulsant. C15H12N2O Carbamazepen InChI=1/C15H12N2O/c16-15(18)17-13-7-3-1-5-11(13)9-10-12-6-2-4-8-14(12)17/h1-10H,(H2,16,18)/f/h16H2 InChIKey=FFGPTBGBLSHEPO-ZHLVXTBQCX NC(=O)N1c2ccccc2C=Cc2ccccc12 carbamazepina carbamazepinum true carbaryl 1-Naphthalenol, methylcarbamate 1-Naphthyl N-methylcarbamate 20247 247 63-25-2 A carbamate ester that has formula C12H11NO2. A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04) A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)[accessedResource: C12H11NO2][accessDate: 05-04-2011] C12H11NO2 C12H11NO2 CNC(=O)Oc1cccc2ccccc12 Carbaril InChI=1/C12H11NO2/c1-13-12(14)15-11-8-4-6-9-5-2-3-7-10(9)11/h2-8H,1H3,(H,13,14)/f/h13H InChIKey=CVXBEEMKQHEXEN-NDKGDYFDCM N-Methyl-1-naphthyl carbamate N-Methyl-alpha-naphthylurethan Ras (sub 5-17) Peptide (C12) Ras (sub 5-17) Peptide (C12)[accessedResource: C12H11NO2][accessDate: 05-04-2011] Ras Peptide CYS Ras Peptide CYS[accessedResource: C12H11NO2][accessDate: 05-04-2011] Sevin alpha-Naphthyl N-methylcarbamate naphthalen-1-yl methylcarbamate naphthalen-1-yl methylcarbamate (9R,13R)-12-oxo-phytodienoic acid (9R,13R)-12-oxophytodienoic acid 12-oxophytodienoic acid 8-{(1R,5R)-4-oxo-5-[(2Z)-pent-2-en-1-yl]cyclopent-2-en-1-yl}octanoic acid C18H28O3 CC\\C=C/C[C@@H]1[C@H](CCCCCCCC(O)=O)C=CC1=O CHEBI_34005 Ele Holloway InChI=1/C18H28O3/c1-2-3-7-11-16-15(13-14-17(16)19)10-8-5-4-6-9-12-18(20)21/h3,7,13-16H,2,4-6,8-12H2,1H3,(H,20,21)/b7-3-/t15-,16-/m1/s1/f/h20H InChIKey=PMTMAFAPLCGXGK-VSUHVYTRDP James Malone OPDA The (9R,13R)-diastereomer of 12-oxophytodienoic acid. http://www.ebi.ac.uk/efo/EFO_0002482 16-ketoestradiol CHEBI_34165 Ele Holloway James Malone http://www.ebi.ac.uk/efo/EFO_0002485 carvacrol 1-Hydroxy-2-methyl-5-isopropylbenzene 1-Methyl-2-hydroxy-4-isopropylbenzene 2-Hydroxy-p-cymene 2-Methyl-5-(1-methylethyl)phenol 2-Methyl-5-isopropylphenol 2-methyl-5-(propan-2-yl)phenol 2-p-Cymenol 3-Isopropyl-6-methylphenol 5-Isopropyl-2-methylphenol 5-Isopropyl-o-cresol C10H14O CC(C)c1ccc(C)c(O)c1 Carvacrol ChEMBL:138580 ChemIDplus:1860514 ChemIDplus:499-75-2 CiteXplore:21447440 CiteXplore:21544887 CiteXplore:21815724 CiteXplore:21879312 CiteXplore:21938469 CiteXplore:22002497 CiteXplore:22129102 CiteXplore:22139435 CiteXplore:22183117 CiteXplore:22273461 CiteXplore:22289589 CiteXplore:22305883 CiteXplore:22308777 CiteXplore:22328722 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H14O/c1-7(2)9-5-4-8(3)10(11)6-9/h4-7,11H,1-3H3 InChIKey=RECUKUPTGUEGMW-UHFFFAOYSA-N James Malone KEGG COMPOUND:499-75-2 KEGG COMPOUND:C09840 LIPID MAPS:LMPR0102090017 NIST Chemistry WebBook:499-75-2 Tomasz Adamusiak Wikipedia:Carvacrol http://www.ebi.ac.uk/efo/EFO_0003309 4-nonylphenol 4-n-Nonylphenol 4-nonylphenol C15H24O CCCCCCCCCc1ccc(O)cc1 ChEMBL:352564 ChemIDplus:104-40-5 CiteXplore:21823570 CiteXplore:22133150 Class imported / merged by efoimporter Ele Holloway InChI=1S/C15H24O/c1-2-3-4-5-6-7-8-9-14-10-12-15(16)13-11-14/h10-13,16H,2-9H2,1H3 InChIKey=IGFHQQFPSIBGKE-UHFFFAOYSA-N James Malone KEGG COMPOUND:104-40-5 KEGG COMPOUND:C14550 NIST Chemistry WebBook:104-40-5 Reaxys:2047450 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003213 p-Nonylphenol p-n-Nonylphenol para Nonyl phenol chlorpyrifos An organochlorine acaricide that has formula C9H11Cl3NO3PS. C9H11Cl3NO3PS CCOP(=S)(OCC)Oc1nc(Cl)c(Cl)cc1Cl CHEBI_34631 Chlorpyrifos-ethyl Chlorpyriphos InChI=1/C9H11Cl3NO3PS/c1-3-14-17(18,15-4-2)16-9-7(11)5-6(10)8(12)13-9/h5H,3-4H2,1-2H3 InChIKey=SBPBAQFWLVIOKP-UHFFFAOYAG James Malone O,O-diethyl O-(3,5,6-trichloropyridin-2-yl) phosphorothioate O,O-diethyl O-(3,5,6-trichloropyridin-2-yl) thiophosphate Phosphorothioic acid, O,O-diethyl O-(3,5,6-trichloro-2-pyridinyl) ester Trichlorpyrphos http://www.ebi.ac.uk/efo/EFO_0001504 m-Chlorpyrifos o,o-Diethyl-o-(3,5,6-trichloro-2-pyridyl)phosphorothioate clofibric acid 2-(4-Chlorophenoxy)-2-methylpropionic acid 2-(4-chlorophenoxy)-2-methylpropanoic acid 2-(p-Chlorophenoxy)-2-methylpropionic acid 2-(p-Chlorophenoxy)isobutyric acid 4-CPIB Acide (p-chlorophenoxy)-2 methyl-2 propionique Beilstein:1874067 C10H11ClO3 CC(C)(Oc1ccc(Cl)cc1)C(O)=O CPIB ChEMBL:129390 ChemIDplus:882-09-7 Chlorfibrinic acid Chlorofibrinic acid Chlorophibrinic acid Class imported / merged by efoimporter Clofibrate free acid Clofibric acid Clofibrinsaeure Ele Holloway InChI=1S/C10H11ClO3/c1-10(2,9(12)13)14-8-5-3-7(11)4-6-8/h3-6H,1-2H3,(H,12,13) InChIKey=TXCGAZHTZHNUAI-UHFFFAOYSA-N James Malone KEGG COMPOUND:882-09-7 KEGG COMPOUND:C13700 NIST Chemistry WebBook:882-09-7 PCIB PCPIB Wikipedia:Clofibric_Acid acide clofibrique acido clofibrico acidum clofibricum alpha-(4-chlorophenoxy)-alpha-methylpropionic acid alpha-(p-chlorophenoxy)isobutyric acid clofibric acid http://www.ebi.ac.uk/efo/EFO_0002405 diazinon Beilstein:273790 C12H21N2O3PS CCOP(=S)(OCC)Oc1cc(C)nc(n1)C(C)C ChEMBL:481698 ChemIDplus:333-41-5 Class imported / merged by efoimporter Diazinon Dimpylate InChI=1S/C12H21N2O3PS/c1-6-15-18(19,16-7-2)17-11-8-10(5)13-12(14-11)9(3)4/h8-9H,6-7H2,1-5H3 InChIKey=FHIVAFMUCKRCQO-UHFFFAOYSA-N KEGG COMPOUND:333-41-5 KEGG COMPOUND:C14324 NIST Chemistry WebBook:333-41-5 O,O-Diethyl 2-isopropyl-4-methylpyrimidyl-6-thiophosphate O,O-Diethyl O-(2-isopropyl-4-methyl-6-pyrimidyl) thionophosphate O,O-Diethyl O-(2-isopropyl-6-methyl-4-pyrimidinyl) phosphorothioate O,O-diethyl O-[6-methyl-2-(1-methylethyl)pyrimidin-4-yl] thiophosphate O,O-diethyl O-[6-methyl-2-(propan-2-yl)pyrimidin-4-yl] phosphorothioate Phosphorothioic acid, O,O-diethyl O-(6-methyl-2-(1-methylethyl)-4-pyrimidinyl) ester dibutyl phthalate 1,2-Benzenedicarboxylic acid dibutyl ester 1781 21781 4A's Treatment Protocol 4As Treatment Protocol 4As Treatment Strategy 84-74-2 A smoking cessation strategy recommended by the National Cancer Institute. The first 'A' is to ask patients about their smoking status at every visit and record this information. The second 'A' is to advise smokers to quit. The third 'A' is to assist patients' cessation attempts where possible by helping them to set a quit date, providing self-help materials, prescribing pharmacological treatment, and recommending counseling. The final 'A' is to arrange follow-up contact. (from Medscape) Acoustic Acoustic[accessedResource: C16H22O4][accessDate: 05-04-2011] Benzene-o-dicarboxylic acid di-n-butyl ester Benzenedicarboxylic acid dibutyl ester Butyl phthalate C16H22O4 C16H22O4 CCCCOC(=O)c1ccccc1C(=O)OCCCC DBP Di-n-butyl phthalate Dibutyl o-phthalate InChI=1/C16H22O4/c1-3-5-11-19-15(17)13-9-7-8-10-14(13)16(18)20-12-6-4-2/h7-10H,3-6,11-12H2,1-2H3 InChIKey=DOIRQSBPFJWKBE-UHFFFAOYAM Phthalic acid di-n-butyl ester Phthalic acid dibutyl ester The dibutyl ester of 1,2-benzenedicarboxylic acid. The dibutyl ester of benzene-1,2-dicarboxylic acid. dibutyl 1,2-benzenedicarboxylate dibutyl benzene-1,2-dicarboxylate dibutyl phthalate n-Butyl phthalate o-Benzenedicarboxylic acid dibutyl ester 3-isobutyl-1-methyl-7H-xanthine 1-methyl-3-(2-methylpropyl)-3,7-dihydro-1H-purine-2,6-dione 1-methyl-3-(2-methylpropyl)-7H-purine-2,6-dione 1-methyl-3-(propan-2-yl)-3,7-dihydro-1H-purine-2,6-dione 1-methyl-3-isobutylxanthine 3-Isobutyl-1-methyxanthine 3-isobutyl-1-methyl-3,7-dihydro-1H-purine-2,6-dione 3-isobutyl-1-methylxanthine A 3-isobutyl-1-methylxanthine that has formula C10H14N4O2. C10H14N4O2 CC(C)Cn1c2nc[nH]c2c(=O)n(C)c1=O CHEBI_34795 Ele Holloway IBMX InChI=1/C10H14N4O2/c1-6(2)4-14-8-7(11-5-12-8)9(15)13(3)10(14)16/h5-6H,4H2,1-3H3,(H,11,12)/f/h11H InChIKey=APIXJSLKIYYUKG-WXRBYKJCCL James Malone http://www.ebi.ac.uk/efo/EFO_0002396 methoprene (E,E)-1-Methylethyl 11-methoxy-3,7,11-trimethyl-2,4-dodecadienoate (E,E)-11-methoxy-3,7,11-trimethyl-2,4-dodecadienoic acid 1-methylethyl ester (E,E)-isopropyl 11-methoxy-3,7,11-trimethyl-2,4-dodecadienoate 12627 32627 40596-69-8 An isopropyl 11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate that has formula C19H34O3. C19H34O3 C19H34O3 COC(C)(C)CCCC(C)C\\C=C\\C(C)=C\\C(=O)OC(C)C Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst. Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H34O3][accessDate: 05-04-2011] InChI=1/C19H34O3/c1-15(2)22-18(20)14-17(4)11-8-10-16(3)12-9-13-19(5,6)21-7/h8,11,14-16H,9-10,12-13H2,1-7H3/b11-8+,17-14+ InChIKey=NFGXHKASABOEEW-LDRANXPEBN Proto-Oncogene TRE-2 Proto-Oncogene TRE-2[accessedResource: C19H34O3][accessDate: 05-04-2011] TRE-2 Gene TRE-2 Gene[accessedResource: C19H34O3][accessDate: 05-04-2011] USP6 wt Allele USP6 wt Allele[accessedResource: C19H34O3][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H34O3][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 Gene Ubiquitin Specific Protease 6 Gene[accessedResource: C19H34O3][accessDate: 05-04-2011] ZR 515 isopropyl (2E,4E)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate isopropyl (2E,4E)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate isopropyl (EE)-(RS)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate propan-2-yl (2E,4E)-11-methoxy-3,7,11-trimethyldodeca-2,4-dienoate N-nitrosodiethylamine 1,1-diethyl-2-oxohydrazine Beilstein:1744991 C4H10N2O CCN(CC)N=O ChEMBL:374889 ChemIDplus:55-18-5 Class imported / merged by efoimporter DANA DEN Diethylnitrosamine InChI=1S/C4H10N2O/c1-3-6(4-2)5-7/h3-4H2,1-2H3 InChIKey=WBNQDOYYEUMPFS-UHFFFAOYSA-N KEGG COMPOUND:55-18-5 KEGG COMPOUND:C14422 N,N-diethylnitrosamine N,N-diethylnitrosoamine N-Nitrosodiethylamine N-ethyl-N-nitrosoethanamine NDEA NIST Chemistry WebBook:55-18-5 diethylnitrosoamine nocodazole (5-(2-thienylcarbonyl)-1H-benzimidazol-2-yl)-carbamic acid methyl ester A benzimidazole that has formula C14H11N3O3S. A thiophene that has formula C14H11N3O3S. C14H11N3O3S CHEBI_34892 COC(=O)Nc1nc2cc(ccc2[nH]1)C(=O)c1cccs1 InChI=1/C14H11N3O3S/c1-20-14(19)17-13-15-9-5-4-8(7-10(9)16-13)12(18)11-3-2-6-21-11/h2-7H,1H3,(H2,15,16,17,19)/f/h15,17H InChIKey=KYRVNWMVYQXFEU-KJQBJTEXCI N-(5-(2-thenoyl)-2-benzimidazolyl)carbamic acid methyl ester http://www.ebi.ac.uk/efo/EFO_0001580 methyl (5-(2-thienylcarbonyl))-1H-benzimidazole-2-ylcarbamate methyl [5-(2-thienylcarbonyl)-1H-benzimidazol-2-yl]carbamate nocodazol nocodazolum paraquat 1,1'-Dimethyl-4,4'-bipyridinium 1,1'-dimethyl-4,4'-bipyridinium 1,1'-dimethyl-4,4'-bipyridyldiylium 1,1'-dimethyl-[4,4'-bipyridin]-1,1'-diium 14799 34799 4685-14-7 A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04) A synthetic form of the Ras peptide containing a point mutation at position 12 (glycine to cysteine) with potential antineoplastic activity. Vaccination with this peptide may stimulate the host immune system to mount a cytotoxic T lymphocyte (CTL) response against tumor cells positive for this Ras mutation, resulting in decreased tumor growth. (NCI04)[accessedResource: C12H14N2][accessDate: 05-04-2011] C12H14N2 C12H14N2 C[n+]1ccc(cc1)-c1cc[n+](C)cc1 InChI=1/C12H14N2/c1-13-7-3-11(4-8-13)12-5-9-14(2)10-6-12/h3-10H,1-2H3/q+2 InChIKey=INFDPOAKFNIJBF-UHFFFAOYAI N,N'-dimethyl-4,4'-bipyridinium N,N'-dimethyl-4,4'-bipyridinium dication Ras (sub 5-17) Peptide (C12) Ras (sub 5-17) Peptide (C12)[accessedResource: C12H14N2][accessDate: 05-04-2011] Ras Peptide CYS Ras Peptide CYS[accessedResource: C12H14N2][accessDate: 05-04-2011] dimethyl viologen methyl viologen ion(2+) paraquat dication paraquat ion pentachloronitrobenzene 1,2,3,4,5-pentachloro-6-nitrobenzene 2,3,4,5,6-pentachloronitrobenzene C6Cl5NO2 ChEMBL:542755 ChemIDplus:82-68-8 CiteXplore:18294675 CiteXplore:19298997 CiteXplore:19429557 CiteXplore:19959285 CiteXplore:20022079 CiteXplore:20131084 CiteXplore:20560598 CiteXplore:22074892 CiteXplore:22112041 CiteXplore:3311683 CiteXplore:7027636 CiteXplore:7445521 CiteXplore:IND86085618 Class imported / merged by efoimporter Ele Holloway InChI=1S/C6Cl5NO2/c7-1-2(8)4(10)6(12(13)14)5(11)3(1)9 InChIKey=LKPLKUMXSAEKID-UHFFFAOYSA-N James Malone KEGG COMPOUND:82-68-8 KEGG COMPOUND:C14338 NIST Chemistry WebBook:82-68-8 PCNB PKhNC Patent:US7629159 Pentachlornitrobenzol Pentachloronitrobenzene Quintozene Reaxys:1914324 Tomasz Adamusiak Wikipedia:Pentachloronitrobenzene [O-][N+](=O)c1c(Cl)c(Cl)c(Cl)c(Cl)c1Cl http://www.ebi.ac.uk/efo/EFO_0003204 nitropentachlorobenzene pentachlornitrobenzol permethrin (3-Phenoxyphenyl)methyl (+-)-cis,trans-3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate 22292 2292 3-(2,2-Dichloroethenyl)-2,2-dimethylcyclopropane carboxylic acid, (3-phenoxyphenyl) methyl ester 3-phenoxybenzyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate 52645-53-1 C21 C21H20Cl2O3 C21H20Cl2O3 C21[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] CC1(C)C(C=C(Cl)Cl)C1C(=O)OCc1cccc(Oc2ccccc2)c1 DC42 DC42[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] FLJ12894 FLJ12894[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia. Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] IRA1 IRA1[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] InChI=1/C21H20Cl2O3/c1-21(2)17(12-18(22)23)19(21)20(24)25-13-14-7-6-10-16(11-14)26-15-8-4-3-5-9-15/h3-12,17,19H,13H2,1-2H3 InChIKey=RLLPVAHGXHCWKJ-UHFFFAOYAS TBL1XR1 wt Allele TBL1XR1 wt Allele[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] TBLR1 TBLR1[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] Transducin (Beta)-Like 1X-Linked Receptor 1 Gene Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H20Cl2O3][accessDate: 05-04-2011] [3-(phenyloxy)phenyl]methyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate sulmazole 2-[2-methoxy-4-(methylsulfinyl)phenyl]-1H-imidazo[4,5-b]pyridine 2-[2-methoxy-4-(methylsulfinyl)phenyl]-3H-imidazo[4,5-b]pyridine C14H13N3O2S COc1cc(ccc1-c1nc2ncccc2[nH]1)S(C)=O ChEMBL:141370 ChemIDplus:73384-60-8 Class imported / merged by efoimporter Ele Holloway InChI=1S/C14H13N3O2S/c1-19-12-8-9(20(2)18)5-6-10(12)13-16-11-4-3-7-15-14(11)17-13/h3-8H,1-2H3,(H,15,16,17) InChIKey=XMFCOYRWYYXZMY-UHFFFAOYSA-N James Malone KEGG COMPOUND:73384-60-8 KEGG COMPOUND:C13749 Patent:NL7401254 Patent:US3985891 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003243 sulmazol sulmazole sulmazolum cefuroxime (6R,7R)-3-[(carbamoyloxy)methyl]-7-{[(2Z)-2-furan-2-yl-2-(methoxyimino)acetyl]amino}-8-oxo-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid 3-[(carbamoyloxy)methyl]-7beta-[(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido]-3,4-didehydrocepham-4-carboxylic acid 55268-75-2 A 3-(carbamoyloxymethyl)cephalosporin compound having a 7-(2Z)-2-(furan-2-yl)-2-(methoxyimino)acetamido side chain. C16H16N4O8S InChI=1/C16H16N4O8S/c1-26-19-9(8-3-2-4-27-8)12(21)18-10-13(22)20-11(15(23)24)7(5-28-16(17)25)6-29-14(10)20/h2-4,10,14H,5-6H2,1H3,(H2,17,25)(H,18,21)(H,23,24)/b19-9-/t10-,14-/m1/s1/f/h18,23H,17H2 InChIKey=JFPVXVDWJQMJEE-FLSWJVNSDK [H][C@]12SCC(COC(N)=O)=C(N1C(=O)[C@H]2NC(=O)C(=N/OC)\\c1ccco1)C(O)=O zinc sulfate 20315 40315 7733-02-0 A metal sulfate compound having zinc(2+) as the counterion. InChI=1/H2O4S.Zn/c1-5(2,3)4;/h(H2,1,2,3,4);/q;+2/p-2/fO4S.Zn/q-2;m InChIKey=NWONKYPBYAMBJT-FXHKHQCPCZ O4SZn O4SZn ZnSO4 [Zn++].[O-]S([O-])(=O)=O zinc sulfate zinc sulfate (1:1) zinc sulfate anhydrous zinc sulphate zinc(2+) sulfate zinc(II) sulfate surfactant role A substance which lowers the surface tension of the medium in which it is dissolved, and/or the interfacial tension with other phases, and, accordingly, is positively adsorbed at the liquid/vapour and/or at other interfaces. James Malone http://www.ebi.ac.uk/efo/EFO_0001620 surface active agent surfactants apratoxin A (2S,3S,5S,7S,10S,16S,19S,22S,25E,27S)-16-[(2S)-butan-2-yl]-7-tert-butyl-3-hydroxy-22-(4-methoxybenzyl)-2,5,17,19,20,25-hexamethyl-8-oxa-29-thia-14,17,20,23,30-pentaazatricyclo[25.2.1.0(10,14)]triaconta-1(30),25-diene-9,15,18,21,24-pentone 7'''.1,4-anhydro(N-{3-[2-(3,7-dihydroxy-5,8,8-trimethylnonan-2-yl)-4,5-dihydro-1,3-thiazol-4-yl]-2-methylpropenoyl}-O-methyl-L-tyrosyl-N-methyl-L-alanyl-N-methyl-L-isoleucyl-L-proline) An apratoxin that has formula C45H69N5O8S. C45H69N5O8S CHEBI_35212 InChI=1/C45H69N5O8S/c1-13-27(3)38-43(55)50-20-14-15-35(50)44(56)58-37(45(7,8)9)22-26(2)21-36(51)29(5)40-46-32(25-59-40)23-28(4)39(52)47-34(24-31-16-18-33(57-12)19-17-31)42(54)48(10)30(6)41(53)49(38)11/h16-19,23,26-27,29-30,32,34-38,51H,13-15,20-22,24-25H2,1-12H3,(H,47,52)/b28-23+/t26-,27-,29-,30-,32-,34-,35-,36-,37-,38-/m0/s1/f/h47H InChIKey=KXUJXPZXILTXDA-WUCPXUHADD N-((2E)-3-((4S)-4,5-dihydro-2-((1S,2S,4S,6S)-2,6-dihydroxy-1,4,7,7-tetramethyloctyl)-4-thiazolyl)-2-methyl-1-oxo-2-propenyl)-O-methyl-L-tyrosyl-N-methyl-L-alanyl-N-methyl-L-isoleucyl-L-proline (4-16)-lactone [H]N1[C@@H](Cc2ccc(OC)cc2)C(=O)N(C)[C@@H](C)C(=O)N(C)[C@@H]([C@@H](C)CC)C(=O)N2CCC[C@H]2C(=O)O[C@@H](C[C@@H](C)C[C@H](O)[C@H](C)C2=N[C@H](CS2)\\C=C(C)\\C1=O)C(C)(C)C http://www.ebi.ac.uk/efo/EFO_0001488 plant growth retardant CHEBI_35219 James Malone http://www.ebi.ac.uk/efo/EFO_0001833 plant growth inhibitor plant growth inhibitors plant growth retardants antimetabolite role CHEBI_35221 James Malone Substance, structurally similar to a metabolite, which competes with it or replaces it, and so prevents or reduces its normal utilization. antimetabolites http://www.ebi.ac.uk/efo/EFO_0001834 inhibitor role A substance that diminishes the rate of a chemical reaction. James Malone http://www.ebi.ac.uk/efo/EFO_0001898 inhibidor inhibiteur 1-benzofuran 2,3-benzofuran A benzofuran that has formula C8H6O. Benzofuran C8H6O CHEBI_35260 Ele Holloway InChI=1/C8H6O/c1-2-4-8-7(3-1)5-6-9-8/h1-6H InChIKey=IANQTJSKSUMEQM-UHFFFAOYAU James Malone benzo[b]furan c1ccc2occc2c1 coumaron coumarone cumarone http://www.ebi.ac.uk/efo/EFO_0002486 steroid Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from triterpenoids. a steroid steroids antinematodal drug A substance used in the treatment or control of nematode infestations. CHEBI_35444 James Malone antinematodal agent antinematodal drugs antinematodals http://www.ebi.ac.uk/efo/EFO_0001835 polychlorinated biphenyls 40591 PCBs chlorobiphenyl chlorobiphenyls 1-naphthyl isothiocyanate 1-Naphthylisothiocyanate 1-isothiocyanatonaphthalene ANIT CHEBI_35455 InChI=1/C11H7NS/c13-8-12-11-7-3-5-9-4-1-2-6-10(9)11/h1-7H InChIKey=JBDOSUUXMYMWQH-UHFFFAOYAA James Malone S=C=Nc1cccc2ccccc12 alpha-Naphthyl isothiocyanate http://www.ebi.ac.uk/efo/EFO_0001469 cadmium dichloride 10108-64-2 20226 226 A cadmium coordination entity that has formula CdCl2. Caddy CdCl2 CdCl2 Cl[Cd]Cl Dichlorocadmium InChI=1/Cd.2ClH/h;2*1H/q+2;;/p-2/fCd.2Cl/h;2*1h/qm;2*-1 InChIKey=YKYOUMDCQGMQQO-YJWIUFBSCR Kadmiumchlorid cadmium chloride cadmium dichloride cadmium(2+) chloride cadmium(II) chloride angiotensin-converting enzyme inhibito ACE inhibitor CHEBI_35457 James Malone angiotensin-converting enzyme inhibitor http://www.ebi.ac.uk/efo/EFO_0001836 antidepressant anti-inflammatory drug A substance that reduces or suppresses inflammation. CHEBI_35472 James Malone anti-inflammatory agent anti-inflammatory drugs http://www.ebi.ac.uk/efo/EFO_0001837 non-steroidal anti-inflammatory drug An anti-inflammatory drug that is not a steroid. In addition to anti-inflammatory actions, non-steroidal anti-inflammatory drugs have analgesic, antipyretic, and platelet-inhibitory actions. They act by blocking the synthesis of prostaglandins by inhibiting cyclooxygenase, which converts arachidonic acid to cyclic endoperoxides, precursors of prostaglandins. NSAID NSAIDs http://www.ebi.ac.uk/efo/EFO_0001582 non-steroidal anti-inflammatory agent non-steroidal anti-inflammatory drugs antipsychotic drug Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect. NIFSTD:nlx_chem_20090603 Neuroleptikum Tomasz Adamusiak antipsychotic antipsychotic agents antipsychotic drugs antipsychotic[accessedResource: NIFSTD:nlx_chem_20090603][accessDate: 05-04-2011] antipsychotics antipsychotiques grosser Tranquilizer http://www.ebi.ac.uk/efo/EFO_0001486 major tranquilizers major tranquilizing agents neuroleptic neuroleptic agents neuroleptics neuroleptique neuroleptiques true antimanic drug Antimanic drugs are agents used to treat bipolar disorders or mania associated with other affective disorders. CHEBI_35477 James Malone antimanic agent antimanic drugs antimanics http://www.ebi.ac.uk/efo/EFO_0001840 non-narcotic analgesic A drug that has principally analgesic, antipyretic and anti-inflammatory actions. Non-narcotic analgesics do not bind to opioid receptors. CHEBI_35481 James Malone http://www.ebi.ac.uk/efo/EFO_0001841 antipyretic A drug that prevents or reduces fever by lowering the body temperature from a raised state. An antipyretic will not affect the normal body temperature if one does not have fever. Antipyretics cause the hypothalamus to override an interleukin-induced increase in temperature. The body will then work to lower the temperature and the result is a reduction in fever. CHEBI_35493 James Malone http://www.ebi.ac.uk/efo/EFO_0001842 beta-adrenergic agonist An agent that selectively binds to and activates beta-adrenergic receptors. CHEBI_35522 James Malone beta-adrenergic agonists beta-adrenergic receptor agonist beta-adrenoceptor agonists http://www.ebi.ac.uk/efo/EFO_0001843 hypoglycemic drug A drug which lowers the blood glucose level. CHEBI_35526 James Malone antidiabetic http://www.ebi.ac.uk/efo/EFO_0001844 hypoglycemic agent cyclooxygenase inhibitor A compound or agent that combines with cyclooxygenases and thereby prevents its substrate-enzyme combination with arachidonic acid and the formation of eicosanoids, prostaglandins, and thromboxanes. CHEBI_35544 COX inhibitor James Malone cyclooxygenase inhibitors http://www.ebi.ac.uk/efo/EFO_0001845 perfluorodecanoic acid 2,2,3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-nonadecafluorodecanoic acid C10HF19O2 ChEMBL:1325608 ChemIDplus:1810811 ChemIDplus:335-76-2 Class imported / merged by efoimporter Gmelin:35659 InChI=1S/C10HF19O2/c11-2(12,1(30)31)3(13,14)4(15,16)5(17,18)6(19,20)7(21,22)8(23,24)9(25,26)10(27,28)29/h(H,30,31) InChIKey=PCIUEQPBYFRTEM-UHFFFAOYSA-N NIST Chemistry WebBook:335-76-2 Ndfda OC(=O)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)F PFDA nonadecafluoro-n-decanoic acid nonadecafluorodecanoic acid perfluoro-n-decanoic acid perfluorodecanoic acid perhexiline 2-(2,2-dicyclohexylethyl)piperidine Beilstein:4979856 C19H35N C1CCC(CC1)C(CC1CCCCN1)C1CCCCC1 ChEMBL:219288 ChemIDplus:6621-47-2 Class imported / merged by efoimporter InChI=1S/C19H35N/c1-3-9-16(10-4-1)19(17-11-5-2-6-12-17)15-18-13-7-8-14-20-18/h16-20H,1-15H2 InChIKey=CYXKNKQEMFBLER-UHFFFAOYSA-N NIST Chemistry WebBook:6621-47-2 Perhexilene Perhexiline Wikipedia:Perhexiline cardiovascular drug A drug that affects the rate or intensity of cardiac contraction, blood vessel diameter or blood volume. CHEBI_35554 James Malone cardiovascular agent cardiovascular drugs http://www.ebi.ac.uk/efo/EFO_0001846 furan Beilstein:103221 C4H4O ChEMBL:116512 ChemIDplus:110-00-9 Class imported / merged by efoimporter Furan Gmelin:25716 InChI=1S/C4H4O/c1-2-4-5-3-1/h1-4H InChIKey=YLQBMQCUIZJEEH-UHFFFAOYSA-N NIST Chemistry WebBook:110-00-9 c1ccoc1 furan furane oxole alpha-adrenergic agonist pregnenolone 16alpha-carbonitrile 3beta-hydroxy-20-oxo-5-pregnene-16alpha-carbonitrile 3beta-hydroxy-20-oxopregn-5-ene-16alpha-carbonitrile A nitrile that has formula C22H31NO2. C22H31NO2 CHEBI_35591 InChI=1/C22H31NO2/c1-13(24)20-14(12-23)10-19-17-5-4-15-11-16(25)6-8-21(15,2)18(17)7-9-22(19,20)3/h4,14,16-20,25H,5-11H2,1-3H3/t14-,16-,17+,18-,19-,20-,21-,22-/m0/s1 InChIKey=VSBHRRMYCDQLJF-ZDNYCOCVBP PCN [H][C@@]12CC=C3C[C@@H](O)CC[C@]3(C)[C@@]1([H])CC[C@]1(C)[C@H]([C@@H](C[C@@]21[H])C#N)C(C)=O http://www.ebi.ac.uk/efo/EFO_0001596 pregnenolone carbonitrile isoxazole 1,2-oxazole 1-oxa-2-azacyclopentadiene Beilstein:103773 C3H3NO ChemIDplus:288-14-2 Gmelin:1041679 InChI=1S/C3H3NO/c1-2-4-5-3-1/h1-3H InChIKey=CTAPFRYPJLPFDF-UHFFFAOYSA-N NIST Chemistry WebBook:288-14-2 c1cnoc1 isooxazole isoxazoles true antineoplastic agent A substance that inhibits or prevents the proliferation of neoplasms. CHEBI_35610 James Malone antineoplastic antineoplastic agents antineoplastic drug cytostatic http://www.ebi.ac.uk/efo/EFO_0001847 vasodilator agent A drug used to cause dilation of the blood vessels. http://www.ebi.ac.uk/efo/EFO_0001848 vasodilator vasodilator agents anticonvulsant A drug used to prevent seizures or reduce their severity. Antiepileptika Antiepileptikum Antikonvulsiva Antikonvulsivum CHEBI_35623 James Malone anticonvulsants anticonvulsive agent antiepileptic antiepileptics antiepileptique antiepileptiques http://www.ebi.ac.uk/efo/EFO_0001849 adrenergic uptake inhibitor Adrenergic uptake inhibitors are drugs that block the transport of adrenergic transmitters into axon terminals or into storage vesicles within terminals. The tricyclic antidepressants and amphetamines are among the therapeutically important drugs that may act via inhibition of adrenergic transport. Many of these drugs also block transport of serotonin. CHEBI_35640 James Malone adrenergic uptake inhibitors http://www.ebi.ac.uk/efo/EFO_0001850 thiopurines CHEBI_35666 http://www.ebi.ac.uk/efo/EFO_0001568 http://www.ebi.ac.uk/efo/EFO_0001624 mercaptopurines sulfanylpurines thiopurine antilipemic drug A substance used to treat hyperlipidemia (an excess of lipids in the blood). CHEBI_35679 James Malone antihyperlipemic antihyperlipidemic antilipemic antilipemic drugs http://www.ebi.ac.uk/efo/EFO_0001851 hypolipidemic agent cobalt dichloride Beilstein:3902826 ChemIDplus:7646-79-9 CiteXplore:1108802 CiteXplore:11207315 CiteXplore:16426290 CiteXplore:18837732 CiteXplore:21616561 CiteXplore:7615984 CiteXplore:8566016 Cl2Co Class imported / merged by efoimporter CoCl2 Gmelin:9298 InChI=1S/2ClH.Co/h2*1H;/q;;+2/p-2 InChIKey=GVPFVAHMJGGAJG-UHFFFAOYSA-L Kobalt chlorid Kobalt(II)-chlorid Kobaltdichlorid NIST Chemistry WebBook:7646-79-9 Wikipedia:Cobalt(II)_chloride [Cl-].[Cl-].[Co++] cobalt chloride cobalt dichloride cobalt muriate cobalt(2+) chloride cobalt(II) chloride cobaltous chloride cobaltous chloride anhydrous cobaltous dichloride dichlorocobalt http://www.ebi.ac.uk/efo/EFO_0001511 xenobiotic A xenobiotic (Greek, xenos "foreign"; bios "life") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means. CHEBI_35703 James Malone foreign"; bios "life http://www.ebi.ac.uk/efo/EFO_0001852 xenobiotic compounds xenobiotics immunosuppressive agent An agent that suppresses immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-cells or by inhibiting the activation of helper cells. In addition, an immunosuppressive agent is a role played by a compound which is exhibited by a capability to diminish the extent and/or voracity of an immune response. CHEBI_35705 James Malone http://www.ebi.ac.uk/efo/EFO_0001853 immunosuppressant immunosuppressive agents inmunosupresor sedative drug A drug used to induce drowsiness or sleep or to reduce psychological excitement or anxiety. CHEBI_35717 James Malone http://www.ebi.ac.uk/efo/EFO_0001854 hypnotics sedatives sedatives and hypnotics antifungal drug A substance that destroys fungi by suppressing their ability to grow or reproduce. Antifungal drugs differ from industrial fungicides in that they defend against fungi present in human or animal tissues. CHEBI_35718 James Malone antifungal agent antifungal drugs http://www.ebi.ac.uk/efo/EFO_0001855 N-nitrosodimethylamine 1,1-Dimethyl-2-oxohydrazine C2H6N2O CN(C)N=O ChEMBL:290955 ChemIDplus:62-75-9 Class imported / merged by efoimporter DMN Dimethylnitrosamine Dimethylnitrosoamine InChI=1S/C2H6N2O/c1-4(2)3-5/h1-2H3 InChIKey=UMFJAHHVKNCGLG-UHFFFAOYSA-N KEGG COMPOUND:62-75-9 KEGG COMPOUND:C14704 N,N-Dimethylnitrosamine N-Nitrosodimethylamine N-methyl-N-nitrosomethanamine NIST Chemistry WebBook:62-75-9 http://www.ebi.ac.uk/efo/EFO_0001579 anticholesteremic drug A substance used to lower plasma cholesterol levels. CHEBI_35821 James Malone anticholesteremic anticholesteremic agent anticholesteremic drugs cholesterol inhibitor http://www.ebi.ac.uk/efo/EFO_0001856 hypocholesteremic agent antirheumatic drug A drug used to treat rheumatoid arthritis. CHEBI_35842 CHEBI_35842 James Malone anti-rheumatic drugs antirheumatic agent antirheumatic drugs http://www.ebi.ac.uk/efo/EFO_0001487 antibacterial drug protein A biological macromolecule minimally consisting of one polypeptide chain synthesized at the ribosome. A protein is an (also known as polypeptides) organic compound made of amino acids arranged in a linear chain and folded into a globular form. James Malone Jie Zheng MO_683 PRO:000000001 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#protein http://www.ebi.ac.uk/efo/EFO_0001459 polypeptide proteins true chlorhexidine 1,1'-Hexamethylene bis(5-(p-chlorophenyl)biguanide) 55-56-1 A bisbiguanide compound with a structure consisting of two (p-chlorophenyl)guanide units linked by a hexamethylene bridge. C22H30Cl2N10 Clc1ccc(NC(=N)NC(=N)NCCCCCCNC(=N)NC(=N)Nc2ccc(Cl)cc2)cc1 InChI=1/C22H30Cl2N10/c23-15-5-9-17(10-6-15)31-21(27)33-19(25)29-13-3-1-2-4-14-30-20(26)34-22(28)32-18-11-7-16(24)8-12-18/h5-12H,1-4,13-14H2,(H5,25,27,29,31,33)(H5,26,28,30,32,34)/f/h25-34H InChIKey=GHXZTYHSJHQHIJ-FEWMDXPOCG N',N'''''-hexane-1,6-diylbis[N-(4-chlorophenyl)(imidodicarbonimidic diamide)] N,N'-Bis(4-chlorophenyl)-3,12-diimino-2,4,11,13-tetraazatetradecanediimidamide chloroquine 20446 40446 54-05-7 A quinoline alkaloid that has formula C18H26ClN3. Aralen Artrichin Bemaphate C18H26ClN3 C18H26ClN3 CCN(CC)CCCC(C)Nc1ccnc2cc(Cl)ccc12 Capquin Chlorochin EFABP EFABP[accessedResource: C18H26ClN3][accessDate: 05-04-2011] Epidermal Fatty Acid-Binding Protein Epidermal Fatty Acid-Binding Protein[accessedResource: C18H26ClN3][accessDate: 05-04-2011] Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI) Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H26ClN3][accessDate: 05-04-2011] FABP5 FABP5[accessedResource: C18H26ClN3][accessDate: 05-04-2011] Fatty Acid Binding Protein 5 Fatty Acid Binding Protein 5[accessedResource: C18H26ClN3][accessDate: 05-04-2011] InChI=1/C18H26ClN3/c1-4-22(5-2)12-6-7-14(3)21-17-10-11-20-18-13-15(19)8-9-16(17)18/h8-11,13-14H,4-7,12H2,1-3H3,(H,20,21)/f/h21H InChIKey=WHTVZRBIWZFKQO-PKSOQXRJCD N(4)-(7-chloro-4-quinolinyl)-N(1),N(1)-diethyl-1,4-pentanediamine N(4)-(7-chloroquinolin-4-yl)-N(1),N(1)-diethylpentane-1,4-diamine N4-(7-chloroquinolin-4-yl)-N1,N1-diethylpentane-1,4-diamine Nivaquine B PAFABP PAFABP[accessedResource: C18H26ClN3][accessDate: 05-04-2011] Resoquine Reumachlor Sanoquin chloroquinum cloroquina strontium chloride 10476-85-4 20616 40616 A strontium salt that has formula Cl2Sr. Cl2Sr Cl2Sr InChI=1/2ClH.Sr/h2*1H;/q;;+2/p-2/f2Cl.Sr/h2*1h;/q2*-1;m InChIKey=AHBGXTDRMVNFER-GSCHLNCOCE SrCl2 [Cl-].[Cl-].[Sr++] strontium dichloride strontium dichloride chlorpromazine 3-(2-chloro-10H-phenothiazin-10-yl)-N,N-dimethyl-1-propanamine 3-(2-chloro-10H-phenothiazin-10-yl)-N,N-dimethylpropan-1-amine 3-(2-chlorophenothiazin-10-yl)-N,N-dimethyl-propan-1-amine Aminazine Beilstein:289793 C17H19ClN2S CN(C)CCCN1c2ccccc2Sc2ccc(Cl)cc12 CPZ ChEMBL:106216 ChemIDplus:50-53-3 Chlorderazin Chloropromazine Chlorpromados Chlorpromazine CiteXplore:1650428 CiteXplore:2427628 Class imported / merged by efoimporter Contomin DrugBank:DB00477 InChI=1S/C17H19ClN2S/c1-19(2)10-5-11-20-14-6-3-4-7-16(14)21-17-9-8-13(18)12-15(17)20/h3-4,6-9,12H,5,10-11H2,1-2H3 InChIKey=ZPEIMTDSQAKGNT-UHFFFAOYSA-N James Malone KEGG COMPOUND:50-53-3 KEGG COMPOUND:C06906 KEGG DRUG:D00270 Largactil N-(3-dimethylaminopropyl)-3-chlorophenothiazine NIST Chemistry WebBook:50-53-3 PDBeChem:Z80 Patent:US2645640 Thorazine Wikipedia:Chlorpromazine chlorpromazine chlorpromazinum clorpromazina http://www.ebi.ac.uk/efo/EFO_0001503 chlorpropamide 1-(p-chlorobenzenesulfonyl)-3-propylurea 1-(p-chlorophenylsulfonyl)-3-propylurea 1-propyl-3-(p-chlorobenzenesulfonyl)urea 4-chloro-N-((propylamino)carbonyl)benzenesulfonamide 4-chloro-N-[(propylamino)carbonyl]benzenesulfonamide Beilstein:2218363 C10H13ClN2O3S CCCNC(=O)NS(=O)(=O)c1ccc(Cl)cc1 CHLORPROPAMIDE ChEMBL:10891117 ChEMBL:2657066 ChEMBL:3806586 ChemIDplus:94-20-2 Class imported / merged by efoimporter DrugBank:DB00672 InChI=1S/C10H13ClN2O3S/c1-2-7-12-10(14)13-17(15,16)9-5-3-8(11)4-6-9/h3-6H,2,7H2,1H3,(H2,12,13,14) InChIKey=RKWGIWYCVPQPMF-UHFFFAOYSA-N KEGG DRUG:94-20-2 KEGG DRUG:D00271 N-(4-chlorophenylsulfonyl)-N'-propylurea N-(p-chlorobenzenesulfonyl)-N'-propylurea NIST Chemistry WebBook:94-20-2 Patent:GB853555 Patent:US3349124 Wikipedia:Chlorpropamide chlorpropamide chlorpropamidum clorpropamida n-propyl-N'-(p-chlorobenzenesulfonyl)urea n-propyl-N'-p-chlorophenylsulfonylcarbamide sapphyrin A member of the sapphyrins that has formula C24H17N5. A sapphyrin that has formula C24H17N5. C24H17N5 CHEBI_36779 InChI=1/C24H17N5/c1-2-16-12-18-4-6-20(27-18)14-22-8-10-24(29-22)23-9-7-21(28-23)13-19-5-3-17(26-19)11-15(1)25-16/h1-14,25,28-29H/b15-11-,16-12-,17-11-,18-12-,19-13-,20-14-,21-13-,22-14-,24-23- InChIKey=COFLCBMDHTVQRA-DABHNVCVBQ c1cc2cc3ccc([nH]3)c3ccc(cc4ccc(cc5ccc(cc1n2)[nH]5)n4)[nH]3 http://www.ebi.ac.uk/efo/EFO_0001609 campestanol (24R)-5alpha-ergostan-3beta-ol 5alpha-campestan-3beta-ol Beilstein:3209563 C28H50O ChemIDplus:474-60-2 Class imported / merged by efoimporter InChI=1S/C28H50O/c1-18(2)19(3)7-8-20(4)24-11-12-25-23-10-9-21-17-22(29)13-15-27(21,5)26(23)14-16-28(24,25)6/h18-26,29H,7-17H2,1-6H3/t19-,20-,21+,22+,23+,24-,25+,26+,27+,28-/m1/s1 InChIKey=ARYTXMNEANMLMU-ATEDBJNTSA-N LIPID MAPS:LMST01030103 [H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@]4(C)[C@]([H])(CC[C@@]34[H])[C@H](C)CC[C@@H](C)C(C)C)[C@@]1(C)CC[C@H](O)C2 cimetidine 1-Cyano-2-methyl-3-(2-(((5-methyl-4-imidazolyl)methyl)thio)ethyl)guanidine 2-cyano-1-methyl-3-(2-(((5-methylimidazol-4-yl)methyl)thio)ethyl)guanidine 2-cyano-1-methyl-3-(2-{[(5-methyl-1H-imidazol-4-yl)methyl]sulfanyl}ethyl)guanidine C10H16N6S CN\\C(NCCSCc1nc[nH]c1C)=N\\C#N ChEMBL:101620 ChemIDplus:51481-61-9 Cimetag Class imported / merged by efoimporter DrugBank:DB00501 InChI=1S/C10H16N6S/c1-8-9(16-7-15-8)5-17-4-3-13-10(12-2)14-6-11/h7H,3-5H2,1-2H3,(H,15,16)(H2,12,13,14) InChIKey=AQIXAKUUQRKLND-UHFFFAOYSA-N KEGG COMPOUND:51481-61-9 KEGG DRUG:D00295 N''-cyano-N-methyl-N'-(2-{[(5-methyl-1H-imidazol-4-yl)methyl]thio}ethyl)guanidine N-cyano-N'-methyl-N''-(2-([(5-methyl-1H-imidazol-4-yl)methyl]sulfanyl)ethyl)guanidine NIST Chemistry WebBook:51481-61-9 Patent:BE804144 Patent:US3950333 Reaxys:6516325 Tagamet HB 200 Ulcerfen Wikipedia:Cimetidine cimetidina cimetidine cimetidinum citalopram 1,3-dihydro-1-(3-(dimethylamino)propyl)-1-(4-fluorophenyl)-5-isobenzofurancarbonitrile 1-(3-(dimethylamino)propyl)-1-(p-fluorophenyl)-5-phthalancarbonitrile 1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile Beilstein:1397373 C20H21FN2O CN(C)CCCC1(OCc2cc(ccc12)C#N)c1ccc(F)cc1 ChemIDplus:59729-33-8 Cipram Citalopram DrugBank:DB00215 InChI=1S/C20H21FN2O/c1-23(2)11-3-10-20(17-5-7-18(21)8-6-17)19-9-4-15(13-22)12-16(19)14-24-20/h4-9,12H,3,10-11,14H2,1-2H3 InChIKey=WSEQXVZVJXJVFP-UHFFFAOYSA-N KEGG COMPOUND:59729-33-8 KEGG COMPOUND:C07572 Lu 10-171 NIST Chemistry WebBook:59729-33-8 Nitalapram Patent:DE2657013 Patent:EP0171943 Patent:EP1506963 Patent:US4136193 Wikipedia:Citalopram citalopramum true alpha-amanitin 1,8-anhydro-S(1),C(2.5)-cyclo[L-cysteinyl-L-asparaginyl-trans-4-hydroxy-L-prolyl-(R)-4,5-dihydroxy-L-isoleucyl-6-hydroxy-L-tryptophylglycyl-L-isoleucylglycine] (R)-S(1)-oxide 23109-05-9 A heterodetic cyclic peptide that has formula C39H54N10O14S. C39H54N10O14S InChI=1/C39H54N10O14S/c1-4-16(2)31-36(60)42-11-29(55)43-25-15-64(63)38-21(20-6-5-18(51)7-22(20)46-38)9-23(33(57)41-12-30(56)47-31)44-37(61)32(17(3)27(53)14-50)48-35(59)26-8-19(52)13-49(26)39(62)24(10-28(40)54)45-34(25)58/h5-7,16-17,19,23-27,31-32,46,50-53H,4,8-15H2,1-3H3,(H2,40,54)(H,41,57)(H,42,60)(H,43,55)(H,44,61)(H,45,58)(H,47,56)(H,48,59)/t16-,17-,19+,23-,24-,25-,26-,27-,31-,32-,64+/m0/s1/f/h41-45,47-48H,40H2 InChIKey=CIORWBWIBBPXCG-MKELGLIBDL [H][C@]12Cc3c([nH]c4cc(O)ccc34)[S@](=O)C[C@]([H])(NC(=O)CNC(=O)[C@@]([H])(NC(=O)CNC1=O)[C@@H](C)CC)C(=O)N[C@@H](CC(N)=O)C(=O)N1C[C@H](O)C[C@@]1([H])C(=O)N[C@@]([H])([C@@H](C)[C@@H](O)CO)C(=O)N2 alpha-Amatoxin alpha-amanitine clindamycin 18323-44-9 7(S)-Chloro-7-deoxylincomycin 7-CDL A S-glycosyl compound that has formula C18H33ClN2O5S. C18H33ClN2O5S CCC[C@@H]1C[C@H](N(C)C1)C(=O)NC(C(C)Cl)[C@H]1O[C@H](SC)[C@H](O)[C@@H](O)[C@H]1O Cleocin (TN) InChI=1/C18H33ClN2O5S/c1-5-6-10-7-11(21(3)8-10)17(25)20-12(9(2)19)16-14(23)13(22)15(24)18(26-16)27-4/h9-16,18,22-24H,5-8H2,1-4H3,(H,20,25)/t9?,10-,11+,12-,13+,14-,15-,16-,18-/m1/s1/f/h20H InChIKey=KDLRVYVGXIQJDK-JSWPLKRZDL Methyl 7-chloro-6,7,8-trideoxy-6-(1-methyl-trans-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-L-threo-alpha-D-galacto-octopyranoside methyl 7-chloro-6,7,8-trideoxy-6-({[(2S,4R)-1-methyl-4-propylpyrrolidin-2-yl]carbonyl}amino)-1-thio-D-glycero-alpha-D-galacto-octopyranoside clofibrate 2-(4-Chlorophenoxy)-2-methylpropanoic acid ethyl ester 2-(p-Chlorophenoxy)-2-methylpropionic acid ethyl ester Atromid-S Beilstein:1913459 C12H15ClO3 CCOC(=O)C(C)(C)Oc1ccc(Cl)cc1 ChEMBL:116415 ChemIDplus:637-07-0 Class imported / merged by efoimporter Clofibrate DrugBank:DB00636 ELPI EPIB Ethyl 2-(p-chlorophenoxy)isobutyrate Ethyl chlorophenoxyisobutyrate Ethyl clofibrate InChI=1S/C12H15ClO3/c1-4-15-11(14)12(2,3)16-10-7-5-9(13)6-8-10/h5-8H,4H2,1-3H3 InChIKey=KNHUKKLJHYUCFP-UHFFFAOYSA-N KEGG COMPOUND:637-07-0 KEGG COMPOUND:C06916 KEGG DRUG:D00279 Lipofacton Liprin Patent:GB860303 Patent:US3262850 Wikipedia:Clofibrate alpha-(p-Chlorophenoxy)isobutyric acid, ethyl ester alpha-p-Chlorophenoxyisobutyryl ethyl ester clofibrate clofibrato clofibratum ethyl 2-(4-chlorophenoxy)-2-methylpropanoate http://www.ebi.ac.uk/efo/EFO_0001508 phorbol 13-acetate 12-myristate (1aR,1bS,4aR,7aS,7bS,8R,9R,9aS)-9a-acetoxy-4a,7b-dihydroxy-3-(hydroxymethyl)-1,1,6,8-tetramethyl-5-oxo-1a,1b,4,4a,5,7a,7b,8,9,9a-decahydro-1H-cyclopropa[3,4]benzo[1,2-e]azulen-9-yl tetradecanoate 12-O-Tetradecanoylphorbol 13-acetate 12-Tetradecanoylphorbol 13-acetate A phorbol ester that has formula C36H56O8. C36H56O8 CHEBI_37537 Ele Holloway InChI=1/C36H56O8/c1-7-8-9-10-11-12-13-14-15-16-17-18-29(39)43-32-24(3)35(42)27(30-33(5,6)36(30,32)44-25(4)38)20-26(22-37)21-34(41)28(35)19-23(2)31(34)40/h19-20,24,27-28,30,32,37,41-42H,7-18,21-22H2,1-6H3/t24-,27+,28-,30-,32-,34-,35-,36-/m1/s1 InChIKey=PHEDXBVPIONUQT-RGYGYFBIBK James Malone PMA [H][C@@]12C=C(CO)C[C@]3(O)C(=O)C(C)=C[C@@]3([H])[C@@]1(O)[C@H](C)[C@@H](OC(=O)CCCCCCCCCCCCC)[C@]1(OC(C)=O)[C@@]2([H])C1(C)C http://www.ebi.ac.uk/efo/EFO_0002493 phorbol 12-tetradecanoate 13-acetate tetradecanoylphorbol acetate Commonly employed in biomedical research to activate the signal transduction enzyme protein kinase. clomipramine hydrochloride 3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine hydrochloride 3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-aminium chloride 3-chloroimipramine hydrochloride Anafranil C19H24Cl2N2 ChEMBL:774661 ChemIDplus:17321-77-6 Cl.CN(C)CCCN1c2ccccc2CCc2ccc(Cl)cc12 Class imported / merged by efoimporter DrugBank:DB01242 Ele Holloway InChI=1S/C19H23ClN2.ClH/c1-21(2)12-5-13-22-18-7-4-3-6-15(18)8-9-16-10-11-17(20)14-19(16)22;/h3-4,6-7,10-11,14H,5,8-9,12-13H2,1-2H3;1H InChIKey=WIMWMKZEIBHDTH-UHFFFAOYSA-N James Malone KEGG DRUG:17321-77-6 KEGG DRUG:D00811 Reaxys:4168494 Tomasz Adamusiak chloroimipramine monohydrochloride clomipramine HCl clomipramine monohydrochloride http://www.ebi.ac.uk/efo/EFO_0003178 sphingosine 1-phosphate (2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl dihydrogen phosphate (2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl dihydrogen phosphate (2S,3R,4E)-2-amino-4-octadecene-1,3-diol 1-(dihydrogen phosphate) 26993-30-6 37166 A phosphosphingolipid that has formula C18H38NO5P. C18H38NO5P C18H38NO5P CCCCCCCCCCCCC\\C=C\\[C@@H](O)[C@@H](N)COP(O)(O)=O EFABP EFABP[accessedResource: C18H38NO5P][accessDate: 05-04-2011] Epidermal Fatty Acid-Binding Protein Epidermal Fatty Acid-Binding Protein[accessedResource: C18H38NO5P][accessDate: 05-04-2011] Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI) Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H38NO5P][accessDate: 05-04-2011] FABP5 FABP5[accessedResource: C18H38NO5P][accessDate: 05-04-2011] Fatty Acid Binding Protein 5 Fatty Acid Binding Protein 5[accessedResource: C18H38NO5P][accessDate: 05-04-2011] InChI=1/C18H38NO5P/c1-2-3-4-5-6-7-8-9-10-11-12-13-14-15-18(20)17(19)16-24-25(21,22)23/h14-15,17-18,20H,2-13,16,19H2,1H3,(H2,21,22,23)/b15-14+/t17-,18+/m0/s1/f/h21-22H InChIKey=DUYSYHSSBDVJSM-YIUDMRTDDG PAFABP PAFABP[accessedResource: C18H38NO5P][accessDate: 05-04-2011] Sphing-4-enine 1-phosphate chemical compound A drug, solvent, chemical, etc., with a property that can be measured such as concentration. A molecular entity consisting of two or more chemical elements. James Malone Tomasz Adamusiak heteroatomic molecular entities heteroatomic molecular entity clotrimazole 1-((2-Chlorophenyl)diphenylmethyl)-1H-imidazole 1-(alpha-(2-Chlorophenyl)benzhydryl)imidazole 1-(o-Chloro-alpha,alpha-diphenylbenzyl)imidazole 1-(o-Chlorotrityl)imidazole 1-[(2-chlorophenyl)(diphenyl)methyl]-1H-imidazole An imidazole that has formula C22H17ClN2. C22H17ClN2 CHEBI_3764 Clc1ccccc1C(c1ccccc1)(c1ccccc1)n1ccnc1 InChI=1/C22H17ClN2/c23-21-14-8-7-13-20(21)22(25-16-15-24-17-25,18-9-3-1-4-10-18)19-11-5-2-6-12-19/h1-17H InChIKey=VNFPBHJOKIVQEB-UHFFFAOYAO James Malone Lotrimin (TN) Mycelex (TN) http://www.ebi.ac.uk/efo/EFO_0001509 clozapine 8-chloro-11-(4-methylpiperazin-1-yl)-5H-dibenzo[b,e][1,4]diazepine Beilstein:0764984 C18H19ClN4 CN1CCN(CC1)C1=Nc2cc(Cl)ccc2Nc2ccccc12 ChEMBL:102261 ChemIDplus:5786-21-0 Class imported / merged by efoimporter Clozapin Clozapine DrugBank:DB00363 InChI=1S/C18H19ClN4/c1-22-8-10-23(11-9-22)18-14-4-2-3-5-15(14)20-16-7-6-13(19)12-17(16)21-18/h2-7,12,20H,8-11H2,1H3 InChIKey=QZUDBNBUXVUHMW-UHFFFAOYSA-N James Malone KEGG COMPOUND:C06924 KEGG DRUG:D00283 Patent:FR1334944 Patent:NL293201 Patent:US3539573 Wikipedia:Clozapine clozapina clozapine clozapinum http://www.ebi.ac.uk/efo/EFO_0001510 (1->3)-beta-D-glucan (1,3-beta-D-Glucosyl)n (1,3-beta-D-Glucosyl)n+1 (1,3-beta-D-Glucosyl)n-1 (1,3-beta-D-glucosyl)n 1,3-beta-D-Glucan 1,3-beta-Glucan Jon Ison callose curdlan http://www.ebi.ac.uk/efo/EFO_0003286 zymosan CHEBI_60750 "A beta-D-glucan in which the glucose units are connected by (1->3) linkages." [] CHEBI_530 1,3-beta-Glucan zymosan (1,3-beta-D-Glucosyl)n-1 (1,3-beta-D-Glucosyl)n+1 KEGG COMPOUND:C00965 "KEGG COMPOUND" (1,3-beta-D-Glucosyl)n CHEBI_10800 (1,3-beta-D-glucosyl)n 1,3-beta-D-Glucan CHEBI_10802 curdlan callose CHEBI_18922 (1,3-beta-D-glucosyl)n (1,3-beta-D-Glucosyl)n+1 1,3-beta-Glucan (1,3-beta-D-glucosyl)n 1,3-beta-D-Glucan (1,3-beta-D-Glucosyl)n (1,3-beta-D-Glucosyl)n-1 curdlan callose zymosan mannose C6H12O6 Class imported / merged by efoimporter Man manno-hexose mannose protein kinase inhibitor An agent that inhibits protein kinases. CHEBI_37699 James Malone http://www.ebi.ac.uk/efo/EFO_0001858 protein kinase inhibitors protein kinase C inhibitor CHEBI_37700 James Malone http://www.ebi.ac.uk/efo/EFO_0001859 protein kinase C inhibitors cholinesterase inhibitor CHEBI_37733 James Malone http://www.ebi.ac.uk/efo/EFO_0001860 iodoform CHI3 ChEMBL:975000 ChemIDplus:75-47-8 Class imported / merged by efoimporter InChI=1S/CHI3/c2-1(3)4/h1H InChIKey=OKJPEAGHQZHRQV-UHFFFAOYSA-N Jodoform KEGG DRUG:D01910 NIST Chemistry WebBook:75-47-8 [H]C(I)(I)I carbon triiodide iodoform triiodomethane growth hormone A hormone that specifically regulates growth. Wachstumshormon growth hormones http://www.ebi.ac.uk/efo/EFO_0001548 plant growth hormone CHEBI_37848 James Malone http://www.ebi.ac.uk/efo/EFO_0001861 adrenergic antagonist An agent that binds to but does not activate adrenergic receptors thereby blocking the actions of endogenous or exogenous adrenergic agonists. CHEBI_37887 James Malone adrenergic antagonists adrenergic blockaders adrenergic blocker adrenergic blockers adrenergic receptor blockaders adrenoceptor antagonists http://www.ebi.ac.uk/efo/EFO_0001862 alpha-adrenergic antagonist An agent that binds to but does not activate alpha-adrenergic receptors thereby blocking the actions of endogenous or exogenous alpha-adrenergic agonists. alpha-Adrenergic antagonists are used in the treatment of hypertension, vasospasm, peripheral vascular disease, shock, and pheochromocytoma. CHEBI_37890 James Malone alpha-adrenergic antagonists alpha-adrenergic blocker alpha-adrenergic blockers alpha-adrenergic receptor blockaders alpha-adrenoceptor antagonists http://www.ebi.ac.uk/efo/EFO_0001863 chebi_35569 phenothiazine antipsychotic drug CHEBI_37930 James Malone http://www.ebi.ac.uk/efo/EFO_0001864 phenothiazine antipsychotic drugs phenothiazine antipsychotics phenothiazine neuroleptics histamine antagonist CHEBI_37956 Histamine antagonists are the drugs that bind to but do not activate histamine receptors, thereby blocking the actions of histamine or histamine agonists. James Malone antihistamine antihistamines antihistaminico antihistaminics histamine receptor blocker histamine receptor blockers http://www.ebi.ac.uk/efo/EFO_0001865 dye role Cy3 dye Cy5 dye methyltrienolone (17beta)-17-hydroxy-17-methylestra-4,9,11-trien-3-one 14162 17-methyloestra-4,9,11-trien-3-one,17beta-ol 17alpha-Methyltrienolone 17beta-hydroxy-17-methylestra-4,9,11-trien-3-one 34162 965-93-5 A synthetic non-aromatisable androgen and anabolic steroid. It binds strongly to the androgen receptor and has therefore also been used as an affinity label for this receptor in the prostate and in prostatic tumors. C19H24O2 C19H24O2 Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst. Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H24O2][accessDate: 05-04-2011] InChI=1/C19H24O2/c1-18-9-7-15-14-6-4-13(20)11-12(14)3-5-16(15)17(18)8-10-19(18,2)21/h7,9,11,16-17,21H,3-6,8,10H2,1-2H3/t16-,17+,18+,19+/m1/s1 InChIKey=CCCIJQPRIXGQOE-XWSJACJDBS Proto-Oncogene TRE-2 Proto-Oncogene TRE-2[accessedResource: C19H24O2][accessDate: 05-04-2011] R1881 R1881 (synthetic androgen) TRE-2 Gene TRE-2 Gene[accessedResource: C19H24O2][accessDate: 05-04-2011] USP6 wt Allele USP6 wt Allele[accessedResource: C19H24O2][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H24O2][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 Gene Ubiquitin Specific Protease 6 Gene[accessedResource: C19H24O2][accessDate: 05-04-2011] [H][C@@]12CCC3=CC(=O)CCC3=C1C=C[C@@]1(C)[C@@]2([H])CC[C@]1(C)O metribolona metribolone metribolonum uniconazole-P (1E)-1-(4-chlorophenyl)-4,4-dimethyl-2-(1H-1,2,4-triazol-1-yl)pent-1-en-3-ol (E)-(+-)-beta-((4-chlorophenyl)methylene)-alpha-(1,1-dimethylethyl)-1H-1,2,4-triazole-1-ethanol A secondary alcohol that has formula C15H18ClN3O. A triazole that has formula C15H18ClN3O. C15H18ClN3O CC(C)(C)C(O)C(\\n1cncn1)=C/c1ccc(Cl)cc1 CHEBI_38000 InChI=1/C15H18ClN3O/c1-15(2,3)14(20)13(19-10-17-9-18-19)8-11-4-6-12(16)7-5-11/h4-10,14,20H,1-3H3/b13-8+ InChIKey=YNWVFADWVLCOPU-MDWZMJQEBY http://www.ebi.ac.uk/efo/EFO_0001633 uniconazole antimalarial anti-arrhythmia drug cardiotonic drug A drug that has a strengthening effect on the heart or that can increase cardiac output. CHEBI_38147 James Malone cardiotonic drugs http://www.ebi.ac.uk/efo/EFO_0001866 potassium bromate 02/01/7758 A bromate salt that has formula BrKO3. BrKO3 BrO3.K Bromic acid, potassium salt InChI=1/BrHO3.K/c2-1(3)4;/h(H,2,3,4);/q;+1/p-1/fBrO3.K/q-1;m InChIKey=OCATYIAKPYKMPG-RERGACQYCO [K+].[O-]Br(=O)=O potassium trioxidobromate(1-) potassium trioxobromate calcium channel blocker CHEBI_38215 James Malone One of a class of drugs that acts by selective inhibition of calcium influx through cell membranes or on the release and binding of calcium in intracellular pools. calcium channel blockers http://www.ebi.ac.uk/efo/EFO_0001867 acetylcholinesterase inhibitor AChEI Any substance that inhibits the enzyme acetylcholinesterase from breaking down acetylcholine into choline and acetic acid. CHEBI_38462 James Malone acetylcholine esterase inhibitor acetylcholinesterase inhibitors http://www.ebi.ac.uk/efo/EFO_0001868 acetonitrile 20009 75-05-8 9 A nitrile that has formula C2H3N. C2 Mouse C2 Mouse[accessedResource: C2H3N][accessDate: 05-04-2011] C2H3N C2H3N C2[accessedResource: C2H3N][accessDate: 05-04-2011] CC#N CH3-C#N InChI=1/C2H3N/c1-2-3/h1H3 InChIKey=WEVYAHXRMPXWCK-UHFFFAOYAJ MeCN NCMe acetonitrile cyanomethane ethanenitrile methyl cyanide mitochondrial NADH:ubiquinone reductase inhibitor CHEBI_38498 James Malone http://www.ebi.ac.uk/efo/EFO_0001869 mitochondrial NADH dehydrogenase inhibitor mitochondrial complex I inhibitor mitochondrial complex I inhibitors rosuvastatin (3R,5S,6E)-7-(4-(4-fluorophenyl)-6-(1-methylethyl)-2-(ethyl(methylsulfonyl)amino)-5-pyrimidinyl)-3,5-dihydroxy-6-heptenoic acid (3R,5S,6E)-7-{4-(4-fluorophenyl)-2-[methyl(methylsulfonyl)amino]-6-(propan-2-yl)pyrimidin-5-yl}-3,5-dihydroxyhept-6-enoic acid (3R,5S,6E)-7-{4-(4-fluorophenyl)-6-isopropyl-2-[methyl(methylsulfonyl)amino]pyrimidin-5-yl}-3,5-dihydroxyhept-6-enoic acid Beilstein:9670765 C22H28FN3O6S CC(C)c1nc(nc(-c2ccc(F)cc2)c1\\C=C\\[C@@H](O)C[C@@H](O)CC(O)=O)N(C)S(C)(=O)=O ChEMBL:518845 ChemIDplus:287714-41-4 Class imported / merged by efoimporter InChI=1S/C22H28FN3O6S/c1-13(2)20-18(10-9-16(27)11-17(28)12-19(29)30)21(14-5-7-15(23)8-6-14)25-22(24-20)26(3)33(4,31)32/h5-10,13,16-17,27-28H,11-12H2,1-4H3,(H,29,30)/b10-9+/t16-,17-/m1/s1 InChIKey=BPRHUIZQVSMCRT-VEUZHWNKSA-N Wikipedia:Rosuvastatin cytochrome P450 COMe:PRX000645 CYP Class imported / merged by efoimporter P450 protein cytochrome P-450 cytochrome P450 fenazaquin 11-Eicosenoic Acid 11-Eicosenoic Acid[accessedResource: C20H22N2O][accessDate: 05-04-2011] 120928-09-8 20476 4-[2-(4-tert-butylphenyl)ethoxy]quinazoline 4-[2-(4-tert-butylphenyl)ethoxy]quinazoline 4-tert-butylphenethylquinazolin-4-yl ether 40476 A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration. A monounsaturated long-chain fatty acid with a 20-carbon backbone and the sole double bond originating from the 9th position from the methyl end, with the bond in the cis- configuration.[accessedResource: C20H22N2O][accessDate: 05-04-2011] A quinazoline that has formula C20H22N2O. C20:1 n-9 cis C20:1 n-9 cis[accessedResource: C20H22N2O][accessDate: 05-04-2011] C20H22N2O C20H22N2O CC(C)(C)c1ccc(CCOc2ncnc3ccccc23)cc1 Cis-icos-11-enoic Cis-icos-11-enoic[accessedResource: C20H22N2O][accessDate: 05-04-2011] Fatty Acid 20:1 n-9 Fatty Acid 20:1 n-9[accessedResource: C20H22N2O][accessDate: 05-04-2011] Gondoic Acid Gondoic Acid[accessedResource: C20H22N2O][accessDate: 05-04-2011] InChI=1/C20H22N2O/c1-20(2,3)16-10-8-15(9-11-16)12-13-23-19-17-6-4-5-7-18(17)21-14-22-19/h4-11,14H,12-13H2,1-3H3 InChIKey=DMYHGDXADUDKCQ-UHFFFAOYAT tyrosine kinase inhibitor CHEBI_38637 James Malone http://www.ebi.ac.uk/efo/EFO_0001870 protein tyrosine kinase inhibitor tyrosine kinase inhibitors phosmet 24261 4261 732-11-6 A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET). A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET).[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011] An organothiophosphate insecticide that has formula C11H12NO4PS2. C-11 Choline C-11 Choline[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011] C11 Choline C11 Choline[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011] C11H12NO4PS2 C11H12NO4PS2 COP(=S)(OC)SCN1C(=O)c2ccccc2C1=O Carbon C 11 Choline Carbon C 11 Choline[accessedResource: C11H12NO4PS2][accessDate: 05-04-2011] Carbon C11 Choline Decemthion Fosmet InChI=1/C11H12NO4PS2/c1-15-17(18,16-2)19-7-12-10(13)8-5-3-4-6-9(8)11(12)14/h3-6H,7H2,1-2H3 InChIKey=LMNZTLDVJIUSHT-UHFFFAOYAV O,O-Dimethyl S-(phthalimidomethyl) dithiophosphate O,O-Dimethyl S-phthalimidomethyl phosphorodithioate O,O-Dimethyl phthalimidomethyl phosphorodithioate PMP S-((1,3-Dihydro-1,3-dioxo-2H-isoindol-2-yl)methyl)phosphorodithioic acid O,O-dimethyl ester S-[(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)methyl] O,O-dimethyl dithiophosphate S-[(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)methyl] O,O-dimethyl dithiophosphate S-[(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)methyl] O,O-dimethyl phosphorodithioate non ionic surfactant role A surfactant with an uncharged hydrophilic headgroup. James Malone http://www.ebi.ac.uk/efo/EFO_0001581 nonionic surfactant nonionic surfactants tetrafluoroethene 1,1,2,2-tetrafluoroethylene Beilstein:1098492 Beilstein:1740275 C2F4 ChEMBL:660974 ChemIDplus:116-14-3 Class imported / merged by efoimporter F2C=CF2 FC(F)=C(F)F Gmelin:25997 InChI=1S/C2F4/c3-1(4)2(5)6 InChIKey=BFKJFAAPBSQJPD-UHFFFAOYSA-N NIST Chemistry WebBook:116-14-3 Perfluoraethylen TFE Tetrafluoraethen Tetrafluoraethylen perfluoroethene perfluoroethylene tetrafluoroethene tetrafluoroethylene inhalation anaesthetic CHEBI_38870 Inhalationsanaesthetika Inhalationsanaesthetikum Inhalationsnarkotika Inhalationsnarkotikum James Malone anesthetic gases http://www.ebi.ac.uk/efo/EFO_0001871 inhalation anesthetics intravenous anaesthetic CHEBI_38877 James Malone http://www.ebi.ac.uk/efo/EFO_0001872 i.v.-Anaesthetika i.v.-Anaesthetikum intravenous anesthetics adrenocorticotropic hormone 40808 9002-60-2 A polypeptide hormone produced and secreted by the pituitary gland comprising 39 amino acid residues coupled in a linear sequence. The N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Corticotropin stimulates the cortex of the adrenal gland and boosts the synthesis of corticosteroids, mainly glucocorticoids but also sex steroids (androgens). It is used in the treatment of certain neurological disorders such as infantile spasms and multiple sclerosis, and diagnostically to investigate adrenocortical insufficiency. ACTH C207H308N56O58S CSCC[C@H](NC(=O)[C@H](CO)NC(=O)[C@H](Cc1ccc(O)cc1)NC(=O)[C@@H](N)CO)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1cnc[nH]1)C(=O)N[C@@H](Cc1ccccc1)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)NCC(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N[C@@H](CCCNC(N)=N)C(=O)N1CCC[C@H]1C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](C(C)C)C(=O)N[C@@H](Cc1ccc(O)cc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(N)=O)C(=O)NCC(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](CO)C(=O)N[C@@H](C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](C)C(=O)N[C@@H](Cc1ccccc1)C(=O)N1CCC[C@H]1C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1ccccc1)C(O)=O Corticotropin InChI=1/C207H308N56O58S/c1-108(2)89-140(186(302)240-135(69-74-163(279)280)182(298)254-149(204(320)321)94-117-43-20-15-21-44-117)250-193(309)152-54-35-86-262(152)202(318)147(92-116-41-18-14-19-42-116)252-171(287)114(11)230-175(291)132(66-71-160(273)274)234-170(286)113(10)231-191(307)150(105-265)255-183(299)136(70-75-164(281)282)241-190(306)146(98-165(283)284)249-180(296)133(67-72-161(275)276)235-169(285)112(9)229-157(270)101-225-174(290)145(97-156(213)269)251-194(310)153-55-36-87-263(153)203(319)148(93-119-60-64-123(268)65-61-119)253-199(315)167(110(5)6)257-185(301)129(49-26-30-79-210)243-198(314)168(111(7)8)259-196(312)155-57-38-85-261(155)201(317)139(53-34-83-223-207(218)219)244-178(294)130(51-32-81-221-205(214)215)237-177(293)128(48-25-29-78-209)236-176(292)127(47-24-28-77-208)232-158(271)103-227-197(313)166(109(3)4)258-195(311)154-56-37-84-260(154)200(316)138(50-27-31-80-211)233-159(272)102-226-173(289)143(95-120-99-224-126-46-23-22-45-124(120)126)247-179(295)131(52-33-82-222-206(216)217)238-187(303)142(90-115-39-16-13-17-40-115)246-189(305)144(96-121-100-220-107-228-121)248-181(297)134(68-73-162(277)278)239-184(300)137(76-88-322-12)242-192(308)151(106-266)256-188(304)141(245-172(288)125(212)104-264)91-118-58-62-122(267)63-59-118/h13-23,39-46,58-65,99-100,107-114,125,127-155,166-168,224,264-268H,24-38,47-57,66-98,101-106,208-212H2,1-12H3,(H2,213,269)(H,220,228)(H,225,290)(H,226,289)(H,227,313)(H,229,270)(H,230,291)(H,231,307)(H,232,271)(H,233,272)(H,234,286)(H,235,285)(H,236,292)(H,237,293)(H,238,303)(H,239,300)(H,240,302)(H,241,306)(H,242,308)(H,243,314)(H,244,294)(H,245,288)(H,246,305)(H,247,295)(H,248,297)(H,249,296)(H,250,309)(H,251,310)(H,252,287)(H,253,315)(H,254,298)(H,255,299)(H,256,304)(H,257,301)(H,258,311)(H,259,312)(H,273,274)(H,275,276)(H,277,278)(H,279,280)(H,281,282)(H,283,284)(H,320,321)(H4,214,215,221)(H4,216,217,222)(H4,218,219,223)/t112-,113-,114-,125-,127-,128-,129-,130-,131-,132-,133-,134-,135-,136-,137-,138-,139-,140-,141-,142-,143-,144-,145-,146-,147-,148-,149-,150-,151-,152-,153-,154-,155-,166-,167-,168-/m0/s1/f/h214,216,218,221-223,225-259,273,275,277,279,281,283,320H,213,215,217,219H2 InChIKey=IDLFZVILOHSSID-KPRWYZAZDY L-seryl-L-tyrosyl-L-seryl-L-methionyl-L-alpha-glutamyl-L-histidyl-L-phenylalanyl-L-arginyl-L-tryptophylglycyl-L-lysyl-L-prolyl-L-valylglycyl-L-lysyl-L-lysyl-L-arginyl-L-arginyl-L-prolyl-L-valyl-L-lysyl-L-valyl-L-tyrosyl-L-prolyl-L-alpha-aspartylglycyl-L-alanyl-L-alpha-glutamyl-L-alpha-aspartyl-L-alpha-glutamyl-L-seryl-L-alanyl-L-alpha-glutamyl-L-alanyl-L-phenylalanyl-L-prolyl-L-leucyl-L-alpha-glutamyl-L-phenylalanine SYSMEHFRWGKPVGKKRRPVKVYPDGAEDQLAEAFPLEF adrenocorticotropin corticotrofina corticotrophine corticotrophinum cortrophin sunitinib 21134 41134 557795-19-4 A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration. A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H27FN4O2][accessDate: 05-04-2011] A pyrrole that has formula C22H27FN4O2. Brassidic Acid Brassidic Acid[accessedResource: C22H27FN4O2][accessDate: 05-04-2011] C22:1, n-9 trans C22:1, n-9 trans[accessedResource: C22H27FN4O2][accessDate: 05-04-2011] C22H27FN4O2 C22H27FN4O2 CCN(CC)CCNC(=O)c1c(C)[nH]c(\\C=C2/C(=O)Nc3ccc(F)cc23)c1C Fatty Acid 22:1 n-9 trans Fatty Acid 22:1 n-9 trans[accessedResource: C22H27FN4O2][accessDate: 05-04-2011] Fatty Acid trans 22:1 n-9 Fatty Acid trans 22:1 n-9[accessedResource: C22H27FN4O2][accessDate: 05-04-2011] InChI=1/C22H27FN4O2/c1-5-27(6-2)10-9-24-22(29)20-13(3)19(25-14(20)4)12-17-16-11-15(23)7-8-18(16)26-21(17)28/h7-8,11-12,25H,5-6,9-10H2,1-4H3,(H,24,29)(H,26,28)/b17-12-/f/h24,26H InChIKey=WINHZLLDWRZWRT-IUQVRHKZDC N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-1H-pyrrole-3-carboxamide N-[2-(diethylamino)ethyl]-5-[(Z)-(5-fluoro-2-oxo-1,2-dihydro-3H-indol-3-ylidene)methyl]-2,4-dimethyl-3H-pyrrole-3-carboxamide SU-11248 Sutent Trans docos-13-enoic Acid Trans docos-13-enoic Acid[accessedResource: C22H27FN4O2][accessDate: 05-04-2011] sunitinibum low-density lipoprotein CiteXplore:11082530 CiteXplore:15583011 CiteXplore:15913955 CiteXplore:19349632 Class imported / merged by efoimporter LDL beta-lipoproteins low-density lipoproteins pyrethroid ester insecticide CHEBI_39116 James Malone http://www.ebi.ac.uk/efo/EFO_0001873 pyrethroid ester insecticides (E)-clothianidin (E)-1-[(2-chloro-1,3-thiazol-5-yl)methyl]-3-methyl-2-nitroguanidine (E)-N-(2-chloro-5-thiazolyl)methyl-N'-methyl-N''-nitroguanidine Beilstein:8620724 C6H8ClN5O2S CN\\C(NCc1cnc(Cl)s1)=N/[N+]([O-])=O ChEMBL:528695 ChemIDplus:205510-53-8 ChemIDplus:210880-92-5 Class imported / merged by efoimporter Clothianidin InChI=1S/C6H8ClN5O2S/c1-8-6(11-12(13)14)10-3-4-2-9-5(7)15-4/h2H,3H2,1H3,(H2,8,10,11) InChIKey=PGOOBECODWQEAB-UHFFFAOYSA-N abamectin (2aE,4E,8E)-(5'S,6S,6'R,7S,11R,13S,15S,17aR,20R,20aR,20bS)-6'-((S)-sec-Butyl)-5',6,6',7,10,11,14,15,17a,20,20a,20b-dodecahydro-20,20b-dihydroxy-5',6,8,19-tetramethyl-17-oxospiro(11,15-methano-2H,13H,17H-furo(4,3,2-pq)(2,6)benzodioxacyclooctadecin-13,2'-(2H)pyran)-7-yl 2,6-dideoxy-4-O-(2,6-dideoxy-3-O-methyl-alpha-L-arabino-hexopyranosyl)-3-O-methyl-alpha-L-arabino-hexopyranoside 10q23.33 10q23.33[accessedResource: C48H72O14][accessDate: 05-04-2011] 23892 3892 71751-41-2 A chromosome band present on 10q A chromosome band present on 10q[accessedResource: C48H72O14][accessDate: 05-04-2011] Agri-Mek Avid C48H72O14 MK 936 Mixture of 80% avermectin B1a and 20% avermectin B1b. Zephyr avermectin B1 dibenzothiazepine dibenzothiazepines true dinitrophenol C6H4N2O5 CHEBI_39352 http://www.ebi.ac.uk/efo/EFO_0001524 lufenuron "Blue Bone" Formation 1-(2,5-dichloro-4-(1,1,2,3,3,3-hexafluoropropoxy)phenyl)-3-(2,6-difluorobenzoyl)urea 103055-07-8 14357 34357 A benzoylurea insecticide that has formula C17H8Cl2F8N2O3. Commonly used in flea treatments. ABL1 ABL1 Gene ABL1 Gene[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011] ABL1[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011] C17H8Cl2F8N2O3 C17H8Cl2F8N2O3 FC(C(F)(F)F)C(F)(F)Oc1cc(Cl)c(NC(=O)NC(=O)c2c(F)cccc2F)cc1Cl Fluphenacur InChI=1/C17H8Cl2F8N2O3/c18-6-5-11(32-17(26,27)14(22)16(23,24)25)7(19)4-10(6)28-15(31)29-13(30)12-8(20)2-1-3-9(12)21/h1-5,14H,(H2,28,29,30,31)/f/h28-29H InChIKey=PWPJGUXAGUPAHP-LKHHGCNMCM N-({[2,5-dichloro-4-(1,1,2,3,3,3-hexafluoropropoxy)phenyl]amino}carbonyl)-2,6-difluorobenzamide N-{[2,5-dichloro-4-(1,1,2,3,3,3-hexafluoropropoxy)phenyl]carbamoyl}-2,6-difluorobenzamide N-{[2,5-dichloro-4-(1,1,2,3,3,3-hexafluoropropoxy)phenyl]carbamoyl}-2,6-difluorobenzamide This gene is involved in cell adhesion, differentiation, division and stress response. This gene is involved in cell adhesion, differentiation, division and stress response.[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011] v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene v-Abl Abelson Murine Leukemia Viral Oncogene Homolog 1 Gene[accessedResource: C17H8Cl2F8N2O3][accessDate: 05-04-2011] http://en.wikipedia.org/wiki/Lufenuron atorvastatin (3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-2-isopropyl-4-phenyl-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid (3R,5R)-7-[3-(anilinocarbonyl)-5-(4-fluorophenyl)-4-phenyl-2-(propan-2-yl)-1H-pyrrol-1-yl]-3,5-dihydroxyheptanoic acid (R-(R*,R*))-2-(4-Fluorophenyl)-beta,delta-dihydroxy-5-(1-methylethyl)-3-phenyl-4-((phenylamino)carbonyl)-1H-pyrrole-1-heptanoic acid 134523-00-5 29868 4F9 4F9[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] 7-[2-(4-FLUORO-PHENYL)-5-ISOPROPYL-3-PHENYL-4-PHENYLCARBAMOYL-PYRROL-1-YL]-3,5-DIHYDROXY-HEPTANOIC ACID 9868 A dihydroxy monocarboxylic acid that has formula C33H35FN2O5. Atorlip C33 C33H35FN2O5 C33H35FN2O5 C33[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] CC(C)c1c(C(=O)Nc2ccccc2)c(-c2ccccc2)c(-c2ccc(F)cc2)n1CC[C@@H](O)C[C@@H](O)CC(O)=O CD82 CD82 Antigen wt Allele CD82 Antigen wt Allele[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] CD82 wt Allele CD82 wt Allele[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] CD82[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] GR15 GR15[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression. Human CD82 wild-type allele is located in the vicinity of 11p11.2 and is approximately 54 kb in length. This allele, which encodes CD82 antigen Immunoprotein, is involved in metastasis suppression.[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] IA4 IA4[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] InChI=1/C33H35FN2O5/c1-21(2)31-30(33(41)35-25-11-7-4-8-12-25)29(22-9-5-3-6-10-22)32(23-13-15-24(34)16-14-23)36(31)18-17-26(37)19-27(38)20-28(39)40/h3-16,21,26-27,37-38H,17-20H2,1-2H3,(H,35,41)(H,39,40)/t26-,27-/m1/s1/f/h35,39H InChIKey=XUKUURHRXDUEBC-WPPSOWBEDM KAI1 KAI1 Gene KAI1 Gene[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] KAI1[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] SAR2 SAR2[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] ST6 ST6[accessedResource: C33H35FN2O5][accessDate: 05-04-2011] atorvastatina atorvastatine atorvastatinium curcumin (1E,6E)-1,7-bis(4-hydroxy-3-methoxyphenyl)hepta-1,6-diene-3,5-dione (1E,6E)-1,7-bis[4-hydroxy-3-(methyloxy)phenyl]hepta-1,6-diene-3,5-dione 1421 31077 458-37-7 A polyphenol that has formula C21H20O6. C21 C21H20O6 C21H20O6 C21[accessedResource: C21H20O6][accessDate: 05-04-2011] COc1cc(ccc1O)\\C=C\\C(=O)CC(=O)\\C=C\\c1ccc(O)c(OC)c1 DC42 DC42[accessedResource: C21H20O6][accessDate: 05-04-2011] Diferuloylmethane FLJ12894 FLJ12894[accessedResource: C21H20O6][accessDate: 05-04-2011] Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia. Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H20O6][accessDate: 05-04-2011] IRA1 IRA1[accessedResource: C21H20O6][accessDate: 05-04-2011] InChI=1/C21H20O6/c1-26-20-11-14(5-9-18(20)24)3-7-16(22)13-17(23)8-4-15-6-10-19(25)21(12-15)27-2/h3-12,24-25H,13H2,1-2H3/b7-3+,8-4+ InChIKey=VFLDPWHFBUODDF-FCXRPNKRBF Kacha haldi Natural yellow 3 TBL1XR1 wt Allele TBL1XR1 wt Allele[accessedResource: C21H20O6][accessDate: 05-04-2011] TBLR1 TBLR1[accessedResource: C21H20O6][accessDate: 05-04-2011] Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H20O6][accessDate: 05-04-2011] Transducin (Beta)-Like 1X-Linked Receptor 1 Gene Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H20O6][accessDate: 05-04-2011] Turmeric yellow valproic acid 2-PROPYL-PENTANOIC ACID 2-n-propyl-n-valeric acid 2-propylpentanoic acid 2-propylvaleric acid 4-heptanecarboxylic acid C8H16O2 CCCC(CCC)C(O)=O ChemIDplus:1750447 ChemIDplus:99-66-1 CiteXplore:12475192 CiteXplore:17156483 CiteXplore:19280426 CiteXplore:8681902 Class imported / merged by efoimporter DPA Depakene Di-n-propylessigsaeure DrugBank:DB00313 InChI=1S/C8H16O2/c1-3-5-7(6-4-2)8(9)10/h7H,3-6H2,1-2H3,(H,9,10) InChIKey=NIJJYAXOARWZEE-UHFFFAOYSA-N James Malone KEGG COMPOUND:C07185 KEGG DRUG:D00399 NIST Chemistry WebBook:99-66-1 PDBeChem:2PP VALPROIC ACID VPA Valproinsaeure Wikipedia:Valproic_Acid acide valproique acido valproico acidum valproicum di-n-propylacetic acid dipropylacetic acid http://www.ebi.ac.uk/efo/EFO_0001634 n-DPA valproic acid cyclophosphamide hydrate (+-)-2-(Bis(2-chloroethyl)amino)tetrahydro-2H-1,3,2-oxazaphosphorine 2-oxide monohydrate (Bis(chloro-2-ethyl)amino)-2-tetrahydro-3,4,5,6-oxazaphosphorine-1,3,2-oxide-2 monohydrate 1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridine monohydrate 2-(Bis(2-chloroethyl)amino)-1-oxa-3-aza-2-phosphocyclohexane 2-oxide monohydrate 2-(Di(2-chloroethyl)amino)-1-oxa-3-aza-2-phosphacyclohexane-2-oxide monohydrate Beilstein:8167897 Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester monohydrate C7H15Cl2N2O2P.H2O C7H17Cl2N2O3P ChEMBL:774747 ChemIDplus:6055-19-2 Class imported / merged by efoimporter Cyclophosphamide Cyclophosphamide monohydrate DrugBank:6055-19-2 DrugBank:DB00531 InChI=1S/C7H15Cl2N2O2P.H2O/c8-2-5-11(6-3-9)14(12)10-4-1-7-13-14;/h1-7H2,(H,10,12);1H2 InChIKey=PWOQRKCAHTVFLB-UHFFFAOYSA-N KEGG DRUG:6055-19-2 N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxaphosphorin-2-amine, 2-oxide monohydrate N,N-Bis(beta-chloroethyl)-N',O-trimethylenephosphoric acid ester diamide monohydrate N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide hydrate N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide--water (1/1) O.ClCCN(CCCl)P1(=O)NCCCO1 cyclophosphamide cyclophosphamide (RS)-Cyclophosphamide 2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide 20364 364 50-18-0 A cyclic phosphorodiamide-based nitrogen mustard. Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester C7 C7H15Cl2N2O2P C7H15Cl2N2O2P C7[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] CRG-2 CRG-2[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] CXCL10 wt Allele CXCL10 wt Allele[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] Chemokine (C-X-C Motif) Ligand 10 wt Allele Chemokine (C-X-C Motif) Ligand 10 wt Allele[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] ClCCN(CCCl)P1(=O)NCCCO1 Cyclophosphamide anhydrous Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression. Human CXCL10 wild-type allele is located within 4q21 and is approximately 2 kb in length. This allele, which encodes small inducible cytokine B10 protein, plays a role in both immune cell migration and in the modulation of adhesion molecule expression.[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] IFI10 IFI10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] INP10 INP10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] IP-10 IP-10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] InChI=1/C7H15Cl2N2O2P/c8-2-5-11(6-3-9)14(12)10-4-1-7-13-14/h1-7H2,(H,10,12)/f/h10H InChIKey=CMSMOCZEIVJLDB-KZFATGLACB MOB-1 MOB-1[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide N,N-bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide N,N-bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide SCYB10 SCYB10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] gIP-10 gIP-10[accessedResource: C7H15Cl2N2O2P][accessDate: 05-04-2011] allopurinol 1,5-Dihydro-4H-pyrazolo(3,4-d)pyrimidin-4-one 1,5-Dihydro-4H-pyrazolo(3,4-d)pyrimidine-4-one 1H-Pyrazolo(3,4-d)pyrimidin-4-ol 1H-pyrazolo[3,4-d]pyrimidin-4-ol 4'-Hydroxypyrazolol(3,4-d)pyrimidine 4-HPP 4-Hydroxy-1H-pyrazolo(3,4-d)pyrimidine 4-Hydroxy-3,4-pyrazolopyrimidine 4-Hydroxypyrazolo(3,4-d)pyrimidine 4-Hydroxypyrazolopyrimidine 4-Hydroxypyrazolyl(3,4-d)pyrimidine 4H-Pyrazolo(3,4-d)pyrimidin-4-one AL-100 Allopurinol Allopurinolum Alopurinol Beilstein:608611 C5H4N4O ChemIDplus:315-30-0 CiteXplore:7602118 DrugBank:DB00437 InChI=1S/C5H4N4O/c10-5-3-1-8-9-4(3)6-2-7-5/h1-2H,(H2,6,7,8,9,10) InChIKey=OFCNXPDARWKPPY-UHFFFAOYSA-N KEGG DRUG:315-30-0 KEGG DRUG:D00224 NIST Chemistry WebBook:315-30-0 Oc1ncnc2[nH]ncc12 Wikipedia:Allopurinol Zyloprim (TN) true cyclosporin A (R-[R*,R*-(E)])-Cyclic(L-alanyl-D-alanyl-N-methyl-L-leucyl-N-methyl-L-leucyl-N-methyl-L-valyl-3-hydroxy-N,4-dimethyl-L-2-amino-6-octenoyl-L-alpha-aminobutyryl-N-methylglycyl-N-methyl-L-leucyl-L-valyl-N-methyl-L-leucyl) 1,11-cyclo[L-alanyl-D-alanyl-N-methyl-L-leucyl-N-methyl-L-leucyl-N-methyl-L-valyl-(E)-(2S,3R,4R)-2-amino-3-hydroxy-N,4-dimethyloct-6-enoyl-L-2-aminobutanoyl-N-methylglycyl-N-methyl-L-leucyl-L-valyl-N-methyl-L-leucine] 30-ethyl-33-[(4E)-1-hydroxy-2-methylhex-4-en-1-yl]-1,4,7,10,12,15,19,25,28-nonamethyl-6,9,18,24-tetrakis(2-methylpropyl)-3,21-bis(propan-2-yl)-1,4,7,10,13,16,19,22,25,28,31-undecaazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone 30-ethyl-33-[(4E)-1-hydroxy-2-methylhex-4-en-1-yl]-6,9,18,24-tetraisobutyl-3,21-diisopropyl-1,4,7,10,12,15,19,25,28-nonamethyl-1,4,7,10,13,16,19,22,25,28,31-undecaazacyclotritriacontane-2,5,8,11,14,17,20,23,26,29,32-undecone Antibiotic S 7481F1 Beilstein:3647785 C62H111N11O12 CC[C@H]1NC(=O)[C@H]([C@H](O)[C@H](C)C\\C=C\\C)N(C)C(=O)[C@@H](C(C)C)N(C)C(=O)[C@H](CC(C)C)N(C)C(=O)[C@H](CC(C)C)N(C)C(=O)[C@H](C)NC(=O)[C@H](C)NC(=O)[C@@H](CC(C)C)N(C)C(=O)[C@@H](NC(=O)[C@H](CC(C)C)N(C)C(=O)CN(C)C1=O)C(C)C ChemIDplus:59865-13-3 Ciclosporin CiteXplore:11058832 CiteXplore:11069928 CiteXplore:11079273 CiteXplore:11080188 CiteXplore:11238591 CiteXplore:11256490 CiteXplore:11278005 CiteXplore:11315347 CiteXplore:11370709 CiteXplore:11406057 CiteXplore:11426833 CiteXplore:11442023 CiteXplore:11481617 CiteXplore:11493684 CiteXplore:11529914 CiteXplore:11557554 CiteXplore:11564166 CiteXplore:11676831 CiteXplore:11870366 CiteXplore:12021257 CiteXplore:12050171 CiteXplore:12603598 CiteXplore:12761440 CiteXplore:12929192 CiteXplore:12950728 CiteXplore:14521916 CiteXplore:14621732 CiteXplore:14638917 CiteXplore:14672695 CiteXplore:14682659 CiteXplore:14743390 CiteXplore:15030555 CiteXplore:15175101 CiteXplore:15210365 CiteXplore:15306697 CiteXplore:15383526 CiteXplore:15541012 CiteXplore:15613074 CiteXplore:15626898 CiteXplore:15657176 CiteXplore:1566062 CiteXplore:15711594 CiteXplore:15811524 CiteXplore:15962181 CiteXplore:16372476 CiteXplore:16404634 CiteXplore:16724420 CiteXplore:16801218 CiteXplore:16898534 CiteXplore:17032751 CiteXplore:17083576 CiteXplore:17117422 CiteXplore:17192032 CiteXplore:17220244 CiteXplore:17229932 CiteXplore:17265451 CiteXplore:17446460 CiteXplore:17603747 CiteXplore:18076075 CiteXplore:18171316 CiteXplore:18191430 CiteXplore:18217899 CiteXplore:18259730 CiteXplore:18299432 CiteXplore:18359899 CiteXplore:18583716 CiteXplore:18597363 CiteXplore:18790203 CiteXplore:18818682 CiteXplore:18931077 CiteXplore:18975184 CiteXplore:19282398 CiteXplore:19589783 Class imported / merged by efoimporter Cyclo(L-alanyl-D-alanyl-N-methyl-L-leucyl-N-methyl-L-leucyl-N-methyl-L-valyl-((3R,4R,6E)-6,7-didehydro-3-hydroxy-N,4-dimethyl-L-2-aminooctanoyl)-L-2-aminobutanoyl-N-methylglycyl-N-methyl-L-leucyl-L-valyl-N-methylleucyl) Cyclosporin A Cyclosporine DrugBank:DB00091 Gengraf InChI=1S/C62H111N11O12/c1-25-27-28-40(15)52(75)51-56(79)65-43(26-2)58(81)67(18)33-48(74)68(19)44(29-34(3)4)55(78)66-49(38(11)12)61(84)69(20)45(30-35(5)6)54(77)63-41(16)53(76)64-42(17)57(80)70(21)46(31-36(7)8)59(82)71(22)47(32-37(9)10)60(83)72(23)50(39(13)14)62(85)73(51)24/h25,27,34-47,49-52,75H,26,28-33H2,1-24H3,(H,63,77)(H,64,76)(H,65,79)(H,66,78)/b27-25+/t40-,41+,42+,43-,44+,45-,46+,47+,49+,50-,51+,52-/m1/s1 InChIKey=PMATZTZNYRCHOR-VJRYSDSKSA-N James Malone KEGG COMPOUND:59865-13-3 KEGG COMPOUND:C05086 KEGG DRUG:D00184 Neoral Patent:US4117118 Reaxys:3647785 Sandimmune Wikipedia:Ciclosporin ciclosporin ciclosporina ciclosporine ciclosporinum http://www.ebi.ac.uk/efo/EFO_0001506 cyfluthrin (R,S)-alpha-Cyano-4-fluoro-3-phenoxybenzyl-(1R,S)-cis,trans-3-(2,2-dichlorovinyl)-2,2-dimethylcyclopropanecarboxylate C22H18Cl2FNO3 CC1(C)C(C=C(Cl)Cl)C1C(=O)OC(C#N)c1ccc(F)c(Oc2ccccc2)c1 CHEBI_4034 InChI=1/C22H18Cl2FNO3/c1-22(2)15(11-19(23)24)20(22)21(27)29-18(12-26)13-8-9-16(25)17(10-13)28-14-6-4-3-5-7-14/h3-11,15,18,20H,1-2H3 InChIKey=QQODLKZGRKWIFG-UHFFFAOYAM James Malone cyano(4-fluoro-3-phenoxyphenyl)methyl 3-(2,2-dichloroethenyl)-2,2-dimethylcyclopropanecarboxylate http://www.ebi.ac.uk/efo/EFO_0001515 azoxystrobin (alphaE)-2-[[6-(2-cyanophenoxy)-4-pyrimidinyl]oxy]-alpha-(methoxymethylene) benzeneacetic acid methyl ester Beilstein:8350244 C22H17N3O5 CO\\C=C(\\C(=O)OC)c1ccccc1Oc1cc(Oc2ccccc2C#N)ncn1 ChEMBL:488388 ChemIDplus:131860-33-8 CiteXplore:20818521 CiteXplore:21153804 CiteXplore:21671616 CiteXplore:21777591 CiteXplore:21884765 CiteXplore:22092932 CiteXplore:22224459 CiteXplore:22278367 Class imported / merged by efoimporter Ele Holloway InChI=1S/C22H17N3O5/c1-27-13-17(22(26)28-2)16-8-4-6-10-19(16)30-21-11-20(24-14-25-21)29-18-9-5-3-7-15(18)12-23/h3-11,13-14H,1-2H3/b17-13+ InChIKey=WFDXOXNFNRHQEC-GHRIWEEISA-N James Malone PDBeChem:AZO Patent:EP382375 Patent:US5395837 Tomasz Adamusiak Wikipedia:Azoxystrobin http://www.ebi.ac.uk/efo/EFO_0003302 methyl (2E)-2-(2-{[6-(2-cyanophenoxy)pyrimidin-4-yl]oxy}phenyl)-3-methoxyprop-2-enoate methyl (E)-2-[2-[6-(2-cyanophenoxy)pyrimidin-4-yloxy]phenyl]-3-methoxyacrylate celecoxib 4-[5-(4-methylphenyl)-3-(trifluoromethyl)-1H-pyrazol-1-yl]benzenesulfonamide A pyrazole that has formula C17H14F3N3O2S. C17H14F3N3O2S CHEBI_41423 Cc1ccc(cc1)-c1cc(nn1-c1ccc(cc1)S(N)(=O)=O)C(F)(F)F Celebrex (TN) InChI=1/C17H14F3N3O2S/c1-11-2-4-12(5-3-11)15-10-16(17(18,19)20)22-23(15)13-6-8-14(9-7-13)26(21,24)25/h2-10H,1H3,(H2,21,24,25)/f/h21H2 InChIKey=RZEKVGVHFLEQIL-QVUQFMIFCW James Malone http://www.ebi.ac.uk/efo/EFO_0001501 p-(5-p-Tolyl-3-(trifluoromethyl)pyrazol-1-yl)benzenesulfonamide 4-phenylbutyric acid 4-PHENYL-BUTANOIC ACID 4-Phenyl-n-butyric acid 4-phenylbutanoic acid Benzenebutyric acid C10H12O2 ChEMBL:497873 ChemIDplus:1821-12-1 CiteXplore:19918981 CiteXplore:20399799 CiteXplore:21237159 CiteXplore:21726539 CiteXplore:21887297 CiteXplore:21894430 CiteXplore:22101259 CiteXplore:22359472 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H12O2/c11-10(12)8-4-7-9-5-2-1-3-6-9/h1-3,5-6H,4,7-8H2,(H,11,12) InChIKey=OBKXEAXTFZPCHS-UHFFFAOYSA-N James Malone NIST Chemistry WebBook:1821-12-1 OC(=O)CCCc1ccccc1 PBA PDBeChem:CLT Reaxys:638180 Tomasz Adamusiak gamma-Phenyl-n-butyric acid gamma-phenylbutyric acid http://www.ebi.ac.uk/efo/EFO_0003231 omega-Phenylbutanoic acid omega-phenylbutyric acid tamoxifen (Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine (Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine 1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene 1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene 2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine Apo-Tamox Beilstein:2062020 C26H29NO CC\\C(c1ccccc1)=C(/c1ccccc1)c1ccc(OCCN(C)C)cc1 ChEMBL:106968 ChemIDplus:10540-29-1 Class imported / merged by efoimporter Crisafeno Diemon DrugBank:DB00675 InChI=1S/C26H29NO/c1-4-25(21-11-7-5-8-12-21)26(22-13-9-6-10-14-22)23-15-17-24(18-16-23)28-20-19-27(2)3/h5-18H,4,19-20H2,1-3H3/b26-25- InChIKey=NKANXQFJJICGDU-QPLCGJKRSA-N James Malone KEGG COMPOUND:10540-29-1 KEGG COMPOUND:C07108 Patent:BE637389 Patent:BE678807 Patent:US4536516 Tamoxifen Wikipedia:Tamoxifen http://www.ebi.ac.uk/efo/EFO_0001621 tamoxifen tamoxifene tamoxifeno tamoxifenum trans-Tamoxifen dexamethasone 1-Dehydro-16alpha-methyl-9alpha-fluorohydrocortisone 16alpha-Methyl-9alpha-fluoro-1-dehydrocortisol 9-fluoro-11beta,17,21-trihydroxy-16alpha-methylpregna-1,4-diene-3,20-dione 9alpha-Fluoro-16alpha-methylprednisolone A fluorinated steroid that has formula C22H29FO5. C22H29FO5 CHEBI_41879 Decadron InChI=1/C22H29FO5/c1-12-8-16-15-5-4-13-9-14(25)6-7-19(13,2)21(15,23)17(26)10-20(16,3)22(12,28)18(27)11-24/h6-7,9,12,15-17,24,26,28H,4-5,8,10-11H2,1-3H3/t12-,15+,16+,17+,19+,20+,21+,22+/m1/s1 InChIKey=UREBDLICKHMUKA-CXSFZGCWBM James Malone [H][C@@]12C[C@@H](C)[C@](O)(C(=O)CO)[C@@]1(C)C[C@H](O)[C@@]1(F)[C@@]2([H])CCC2=CC(=O)C=C[C@]12C dexametasona dexamethasonum http://www.ebi.ac.uk/efo/EFO_0001519 diethylstilbestrol (E)-3,4-bis(4-hydroxyphenyl)-3-hexene (E)-4,4'-(1,2-diethyl-1,2-ethenediyl)bisphenol 4,4'-(3E)-hex-3-ene-3,4-diyldiphenol 4,4'-dihydroxy-alpha,beta-diethylstilbene An estrogen that has formula C18H20O2. C18H20O2 CC\\C(c1ccc(O)cc1)=C(\\CC)c1ccc(O)cc1 CHEBI_41922 Distilbene InChI=1/C18H20O2/c1-3-17(13-5-9-15(19)10-6-13)18(4-2)14-7-11-16(20)12-8-14/h5-12,19-20H,3-4H2,1-2H3/b18-17+ InChIKey=RGLYKWWBQGJZGM-ISLYRVAYBW James Malone alpha,alpha'-diethyl-(E)-4,4'-stilbenediol diethylstilbestrolum dietilestilbestrol http://www.ebi.ac.uk/efo/EFO_0001522 trans-4,4'-(1,2-diethyl-1,2-ethenediyl)bisphenol trans-Diethylstilbesterol trans-Diethylstilbestrol trans-Diethylstilboesterol 2,4-dinitrophenol 1-hydroxy-2,4-dinitrobenzene 2,4-DNP 2,4-dinitrophenol 20523 51-28-5 523 A dinitrophenol having the nitro groups at the 2- and 4-positions. Any of the six isomers consisting of phenol where two hydrogen atoms are substituted by nitro groups. C6 Vertebra C6 Vertebra[accessedResource: C6H4N2O5][accessDate: 05-04-2011] C6H4N2O5 C6H4N2O5 InChI=1/C6H4N2O5/c9-6-2-1-4(7(10)11)3-5(6)8(12)13/h1-3,9H InChIKey=UFBJCMHMOXMLKC-UHFFFAOYAV Oc1ccc(cc1N(=O)=O)N(=O)=O The sixth of the seven cervical vertebrae. The sixth of the seven cervical vertebrae.[accessedResource: C6H4N2O5][accessDate: 05-04-2011] alpha-dinitrophenol dinitrophenol; DNP (R)-lactic acid (-)-lactic acid (2R)-2-hydroxypropanoic acid (R)-(-)-lactic acid Beilstein:1720252 C3H6O3 C[C@@H](O)C(O)=O ChEMBL:336686 ChemIDplus:10326-41-7 CiteXplore:21842515 CiteXplore:22127808 CiteXplore:22277286 CiteXplore:22344644 Class imported / merged by efoimporter D-2-Hydroxypropanoic acid D-2-Hydroxypropionic acid D-Lactic acid D-Milchsaeure D-lactic acid DrugBank:DB04398 Gmelin:362718 HMDB:HMDB01311 InChI=1S/C3H6O3/c1-2(4)3(5)6/h2,4H,1H3,(H,5,6)/t2-/m1/s1 InChIKey=JVTAAEKCZFNVCJ-UWTATZPHSA-N KEGG COMPOUND:10326-41-7 KEGG COMPOUND:C00256 LACTIC ACID PDBeChem:LAC Reaxys:1720252 Wikipedia:Lactic_acid ethylenediaminetetraacetic acid (ethane-1,2-diyldinitrilo)tetraacetate (ethane-1,2-diyldinitrilo)tetraacetic acid (ethylenedinitrilo)tetraacetic acid, ion(4-) 2,2',2'',2'''-(ethane-1,2-diyldinitrilo)tetraacetate Acide ethylenediaminetetracetique Beilstein:1716295 Beilstein:3914756 C10H16N2O8 ChEMBL:165917 ChemIDplus:150-43-6 ChemIDplus:60-00-4 Class imported / merged by efoimporter DrugBank:DB00974 EDTA EDTA, ion(4-) Edetic acid Ethylenediaminetetraacetic acid Gmelin:144943 H4edta InChI=1S/C10H16N2O8/c13-7(14)3-11(4-8(15)16)1-2-12(5-9(17)18)6-10(19)20/h1-6H2,(H,13,14)(H,15,16)(H,17,18)(H,19,20) InChIKey=KCXVZYZYPLLWCC-UHFFFAOYSA-N KEGG COMPOUND:60-00-4 KEGG COMPOUND:C00284 N,N'-1,2-Ethane diylbis-(N-(carboxymethyl)glycine) NIST Chemistry WebBook:60-00-4 OC(=O)CN(CCN(CC(O)=O)CC(O)=O)CC(O)=O PDBeChem:EDT Wikipedia:Edetate acide edetique acido edetico acidum edeticum edetic acid edta ethylenediaminetetraacetate ethylenediaminetetraacetic acid {[-(BIS-CARBOXYMETHYL-AMINO)-ETHYL]-CARBOXYMETHYL-AMINO}-ACETIC ACID forskolin (3R,4aR,5S,6S,6aS,10S,10aR,10bS)-3-ethenyl-6,10,10b-trihydroxy-3,4a,7,7,10a-pentamethyl-1-oxododecahydro-1H-benzo[f]chromen-5-yl acetate 7beta-acetoxy-8,13-epoxy-1alpha,6beta,9alpha-trihydroxylabd-14-en-11-one Beilstein:4300863 C22H34O7 ChEMBL:184507 ChemIDplus:66575-29-9 Class imported / merged by efoimporter FORSKOLIN InChI=1S/C22H34O7/c1-8-19(5)11-14(25)22(27)20(6)13(24)9-10-18(3,4)16(20)15(26)17(28-12(2)23)21(22,7)29-19/h8,13,15-17,24,26-27H,1,9-11H2,2-7H3/t13-,15-,16-,17-,19-,20-,21+,22-/m0/s1 InChIKey=OHCQJHSOBUTRHG-KGGHGJDLSA-N PDBeChem:FOK Patent:DE2557784 Patent:US4088659 Patent:US4476140 [H][C@@]12[C@H](O)[C@H](OC(C)=O)[C@@]3(C)O[C@](C)(CC(=O)[C@]3(O)[C@@]1(C)[C@@H](O)CCC2(C)C)C=C colforsin colforsina colforsine colforsinum http://www.ebi.ac.uk/efo/EFO_0001539 flavone 2-phenyl-4H-1-benzopyran-4-one 2-phenyl-4H-benzopyran-4-one 2-phenyl-4H-chromen-4-one 2-phenyl-gamma-benzopyrone 2-phenylchromone A flavone that has formula C15H10O2. A member of the flavones that has formula C15H10O2. C15H10O2 CHEBI_42491 Flavon InChI=1/C15H10O2/c16-13-10-15(11-6-2-1-3-7-11)17-14-9-5-4-8-12(13)14/h1-10H InChIKey=VHBFFQKBGNRLFZ-UHFFFAOYAG O=c1cc(oc2ccccc12)-c1ccccc1 http://www.ebi.ac.uk/efo/EFO_0001535 3-(5-fluorouracil-1-yl)-L-alanine (2S)-2-amino-3-(5-fluoro-2,4-dioxo-1,2,3,4-tetrahydropyrimidin-1-yl)propanoic acid (S)-(-)-5-fluorowillardiine (S)-F-Willardiine (S)-alpha-Amino-5-fluoro-3,4-dihydro-2,4-dioxo-1(2H)-pyrimmidinepropanoic acid 2-AMINO-3-(5-FLUORO-2,4-DIOXO-3,4-DIHYDRO-2H-PYRIMIDIN-1-YL)-PROPIONIC ACID 3-(5-fluoro-2,4-dioxo-3,4-dihydropyrimidin-1(2H)-yl)-L-alanine 5-Fluorowillardiine C7H8FN3O4 ChEMBL:299497 ChemIDplus:140187-23-1 CiteXplore:11041846 CiteXplore:11487516 CiteXplore:1371315 CiteXplore:16256076 CiteXplore:7566471 CiteXplore:8640342 CiteXplore:8957243 Class imported / merged by efoimporter DrugBank:DB02966 Ele Holloway InChI=1S/C7H8FN3O4/c8-3-1-11(2-4(9)6(13)14)7(15)10-5(3)12/h1,4H,2,9H2,(H,13,14)(H,10,12,15)/t4-/m0/s1 InChIKey=DBWPFHJYSTVBCZ-BYPYZUCNSA-N James Malone KEGG COMPOUND:C13671 N[C@@H](Cn1cc(F)c(=O)[nH]c1=O)C(O)=O PDBeChem:FWD Reaxys:7817206 Tomasz Adamusiak Wikipedia:5-Fluorowillardiine http://www.ebi.ac.uk/efo/EFO_0003306 fisetin 2-(3,4-Dihydroxyphenyl)-3,7-dihydroxy-4H-1-benzopyran-4-one 2-(3,4-dihydroxyphenyl)-3,7-dihydroxy-4H-chromen-4-one 3,3',4',7-Tetrahydroxyflavone 5-Desoxyquercetin 7,3',4'-Trihydroxyflavonol A tetrahydroxyflavone that has formula C15H10O6. C15H10O6 CHEBI_42567 InChI=1/C15H10O6/c16-8-2-3-9-12(6-8)21-15(14(20)13(9)19)7-1-4-10(17)11(18)5-7/h1-6,16-18,20H InChIKey=XHEFDIBZLJXQHF-UHFFFAOYAQ Oc1ccc2c(c1)oc(-c1ccc(O)c(O)c1)c(O)c2=O http://www.ebi.ac.uk/efo/EFO_0001534 4-hydroxyphenyl retinamide 15-[(4-hydroxyphenyl)amino]retinal 4-HPR 4-hydroxy(phenyl)retinamide C26H33NO2 CC(\\C=C\\C1=C(C)CCCC1(C)C)=C/C=C/C(C)=C/C(=O)Nc1ccc(O)cc1 ChEMBL:100853 ChemIDplus:65646-68-6 CiteXplore:20878269 CiteXplore:20978709 CiteXplore:21241664 CiteXplore:21319187 CiteXplore:21674264 CiteXplore:21964808 CiteXplore:22094120 CiteXplore:22162577 CiteXplore:22183330 CiteXplore:22221098 CiteXplore:22280430 CiteXplore:22323082 CiteXplore:22350416 CiteXplore:22382323 CiteXplore:22387538 Class imported / merged by efoimporter DrugBank:DB05076 Ele Holloway InChI=1S/C26H33NO2/c1-19(11-16-24-21(3)10-7-17-26(24,4)5)8-6-9-20(2)18-25(29)27-22-12-14-23(28)15-13-22/h6,8-9,11-16,18,28H,7,10,17H2,1-5H3,(H,27,29)/b9-6+,16-11+,19-8+,20-18+ InChIKey=AKJHMTWEGVYYSE-FXILSDISSA-N James Malone KEGG DRUG:D04162 N-(4-HYDROXYPHENYL)ALL-TRANS RETINAMIDE N-(4-Hydroxyphenyl)retinamide N-(4-hydroxyphenyl)all-trans retinamide PDBeChem:FEN Reaxys:5769490 Tomasz Adamusiak all-trans-4'-Hydroxyretinanilide fenretinida fenretinide fenretinidum http://www.ebi.ac.uk/efo/EFO_0003195 flufenamic acid 2-[3-(trifluoromethyl)anilino]benzoic acid 2-[[3-(TRIFLUOROMETHYL)PHENYL]AMINO] BENZOIC ACID 2-{[3-(trifluoromethyl)phenyl]amino}benzoic acid 3'-trifluoromethyldiphenylamine-2-carboxylic acid Achless C14H10F3NO2 ChEMBL:129860 ChemIDplus:1996069 ChemIDplus:530-78-9 Class imported / merged by efoimporter DrugBank:DB02266 FFA Flufenamic acid Flufenaminsaeure Gmelin:1327188 InChI=1S/C14H10F3NO2/c15-14(16,17)9-4-3-5-10(8-9)18-12-7-2-1-6-11(12)13(19)20/h1-8,18H,(H,19,20) InChIKey=LPEPZBJOKDYZAD-UHFFFAOYSA-N James Malone KEGG COMPOUND:530-78-9 KEGG COMPOUND:C13038 KEGG DRUG:D01581 N-(3-trifluoromethylphenyl)anthranilic acid N-(alpha,alpha,alpha-trifluoro-m-tolyl)anthranilic acid NIST Chemistry WebBook:530-78-9 OC(=O)c1ccccc1Nc1cccc(c1)C(F)(F)F PDBeChem:FLF Reaxys:1996069 acide flufenamique acido flufenamico acidum flufenamicum flufenamic acid fluphenamic acid http://www.ebi.ac.uk/efo/EFO_0001537 3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine 3'-Amino-3'-deoxy-N6,N6-dimethyladenosine 3'-amino-3'-deoxy-N,N-dimethyladenosine 6-Dimethylamino-9-(3'-ribosylamine)purine Beilstein:93902 C12H18N6O3 CN(C)c1ncnc2n(cnc12)[C@@H]1O[C@H](CO)[C@@H](N)[C@H]1O ChEMBL:795421 ChemIDplus:58-60-6 CiteXplore:323854 Class imported / merged by efoimporter InChI=1S/C12H18N6O3/c1-17(2)10-8-11(15-4-14-10)18(5-16-8)12-9(20)7(13)6(3-19)21-12/h4-7,9,12,19-20H,3,13H2,1-2H3/t6-,7-,9-,12-/m1/s1 InChIKey=RYSMHWILUNYBFW-GRIPGOBMSA-N Puromycin aminonucleoside Stylomycin aminonucleoside danazol Beilstein:4851114 C22H27NO2 ChEMBL:17929794 ChEMBL:18834112 ChemIDplus:17230-88-5 Class imported / merged by efoimporter Cyclomen Danocrine DrugBank:DB01406 InChI=1S/C22H27NO2/c1-4-22(24)10-8-18-16-6-5-15-11-19-14(13-23-25-19)12-20(15,2)17(16)7-9-21(18,22)3/h1,11,13,16-18,24H,5-10,12H2,2-3H3/t16-,17+,18+,20+,21+,22+/m1/s1 InChIKey=POZRVZJJTULAOH-LHZXLZLDSA-N KEGG DRUG:D00289 Patent:GB905844 Patent:US3135743 Wikipedia:Danazol [1,2]oxazolo[4',5':2,3]-17alpha-pregn-4-en-20-yn-17-ol [H][C@@]12CCC3=Cc4oncc4C[C@]3(C)[C@@]1([H])CC[C@@]1(C)[C@@]2([H])CC[C@@]1(O)C#C danazol danazolum dantrolene 1-((5-(p-nitrophenyl)furfurylidene)amino)hydantoin 1-({[5-(4-nitrophenyl)furan-2-yl]methylidene}amino)imidazolidine-2,4-dione Beilstein:705189 C14H10N4O5 ChEMBL:1220183 ChemIDplus:7261-97-4 Class imported / merged by efoimporter Dantrolene DrugBank:DB01219 InChI=1S/C14H10N4O5/c19-13-8-17(14(20)16-13)15-7-11-5-6-12(23-11)9-1-3-10(4-2-9)18(21)22/h1-7H,8H2,(H,16,19,20) InChIKey=OZOMQRBLCMDCEG-UHFFFAOYSA-N KEGG COMPOUND:7261-97-4 KEGG COMPOUND:C06939 KEGG DRUG:D02347 Patent:NL6612588 Patent:US3415821 [O-][N+](=O)c1ccc(cc1)-c1ccc(C=NN2CC(=O)NC2=O)o1 dantrolene dantroleno dantrolenum dexibuprofen (+)-(S)-p-isobutylhydratropic acid (2S)-2-(4-isobutylphenyl)propanoic acid (2S)-2-[4-(2-methylpropyl)phenyl]propanoic acid (S)-alpha-methyl-4-(2-methylpropyl)benzeneacetic acid Beilstein:3590020 Beilstein:3590022 C13H18O2 CC(C)Cc1ccc(cc1)[C@H](C)C(O)=O ChEMBL:417909 ChemIDplus:51146-56-6 Class imported / merged by efoimporter Dexibuprofen IBUPROFEN InChI=1S/C13H18O2/c1-9(2)8-11-4-6-12(7-5-11)10(3)13(14)15/h4-7,9-10H,8H2,1-3H3,(H,14,15)/t10-/m0/s1 InChIKey=HEFNNWSXXWATRW-JTQLQIEISA-N KEGG DRUG:D03715 PDBeChem:IBP d-ibuproten desferrioxamine B Beilstein:2514118 C25H48N6O8 CC(=O)N(O)CCCCCNC(=O)CCC(=O)N(O)CCCCCNC(=O)CCC(=O)N(O)CCCCCN ChEMBL:115938 ChemIDplus:70-51-9 Class imported / merged by efoimporter DFO Deferoxamin Deferrioxamine Desferrioxamine DrugBank:DB00746 InChI=1S/C25H48N6O8/c1-21(32)29(37)18-9-3-6-16-27-22(33)12-14-25(36)31(39)20-10-4-7-17-28-23(34)11-13-24(35)30(38)19-8-2-5-15-26/h37-39H,2-20,26H2,1H3,(H,27,33)(H,28,34) InChIKey=UBQYURCVBFRUQT-UHFFFAOYSA-N KEGG COMPOUND:C06940 KEGG DRUG:D03670 N'-{5-[acetyl(hydroxy)amino]pentyl}-N-(5-{4-[(5-aminopentyl)(hydroxy)amino]-4-oxobutanamido}pentyl)-N-hydroxybutanediamide Patent:BE609053 Wikipedia:Deferoxamine deferoxamina deferoxamine deferoxaminum deferrioxamine B http://www.ebi.ac.uk/efo/EFO_0001518 lisinopril (S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline A dipeptide that has formula C21H31N3O5. C21H31N3O5 CHEBI_43755 InChI=1/C21H31N3O5/c22-13-5-4-9-16(19(25)24-14-6-10-18(24)21(28)29)23-17(20(26)27)12-11-15-7-2-1-3-8-15/h1-3,7-8,16-18,23H,4-6,9-14,22H2,(H,26,27)(H,28,29)/t16-,17-,18-/m0/s1/f/h26,28H InChIKey=RLAWWYSOJDYHDC-YMXGEOMKDH James Malone N(2)-[(1S)-1-carboxy-3-phenylpropyl]-L-lysyl-L-proline NCCCC[C@H](N[C@@H](CCc1ccccc1)C(O)=O)C(=O)N1CCC[C@H]1C(O)=O [N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE http://www.ebi.ac.uk/efo/EFO_0001566 lisinopril anhydrous (S)-alpha-methyl-4-carboxyphenylglycine (+)-MCPG (+)-alpha-methyl-4-carboxyphenylglycine (S)-(+)-alpha-amino-4-carboxy-2-methylbenzeneacetic (S)-(+)-alpha-methyl-4-carboxyphenylglycine (S)-(ALPHA)-METHYL-4-CARBOXYPHENYLGLYCINE (S)-MCPG (S)-a-methyl-4-carboxyphenylglycine 4-[(1S)-1-amino-1-carboxyethyl]benzoic acid C10H11NO4 C[C@@](N)(C(O)=O)c1ccc(cc1)C(O)=O ChEMBL:524778 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H11NO4/c1-10(11,9(14)15)7-4-2-6(3-5-7)8(12)13/h2-5H,11H2,1H3,(H,12,13)(H,14,15)/t10-/m0/s1 InChIKey=DNCAZYRLRMTVSF-JTQLQIEISA-N James Malone PDBeChem:MCG Reaxys:7568949 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003244 (-)-demecolcine (-)-colchamine (7S)-1,2,3,10-tetramethoxy-7-(methylamino)-6,7-dihydrobenzo[a]heptalen-9(5H)-one C21H25NO5 CN[C@H]1CCc2cc(OC)c(OC)c(OC)c2-c2ccc(OC)c(=O)cc12 ChEMBL:238150 ChemIDplus:477-30-5 CiteXplore:1061646 CiteXplore:20082301 CiteXplore:22394737 CiteXplore:2329167 CiteXplore:2977921 CiteXplore:7237451 CiteXplore:7720099 CiteXplore:7887202 Class imported / merged by efoimporter Colcemid Ele Holloway InChI=1S/C21H25NO5/c1-22-15-8-6-12-10-18(25-3)20(26-4)21(27-5)19(12)13-7-9-17(24-2)16(23)11-14(13)15/h7,9-11,15,22H,6,8H2,1-5H3/t15-/m0/s1 InChIKey=NNJPGOLRFBJNIW-HNNXBMFYSA-N James Malone KEGG COMPOUND:477-30-5 KEGG COMPOUND:C11250 N-deacetyl-N-methylcolchicine N-desacetyl-N-methylcolchicine N-methyl-N-deacetylcolchicine N-methyl-N-desacetylcolchicine Patent:DE936268 Reaxys:2822892 Reichstein's F Santavy's substance F Tomasz Adamusiak Wikipedia:Demecolcine demecolcina demecolcine demecolcinum http://www.ebi.ac.uk/efo/EFO_0003278 methotrexate 4-amino-10-methylfolic acid 4-amino-N(10)-methylpteroylglutamic acid A pteridine that has formula C20H22N8O5. C20H22N8O5 CHEBI_44185 CN(Cc1cnc2nc(N)nc(N)c2n1)c1ccc(cc1)C(=O)N[C@@H](CCC(O)=O)C(O)=O Emtexate InChI=1/C20H22N8O5/c1-28(9-11-8-23-17-15(24-11)16(21)26-20(22)27-17)12-4-2-10(3-5-12)18(31)25-13(19(32)33)6-7-14(29)30/h2-5,8,13H,6-7,9H2,1H3,(H,25,31)(H,29,30)(H,32,33)(H4,21,22,23,26,27)/t13-/m0/s1/f/h25,29,32H,21-22H2 InChIKey=FBOZXECLQNJBKD-SGDZJVHDDX James Malone Ledertrexate MTX N-(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}benzoyl)-L-glutamic acid N-[(4-{[(2,4-diaminopteridin-6-yl)methyl](methyl)amino}phenyl)carbonyl]-L-glutamic acid N-[4-[[(2,4-diamino-6-pteridinyl)methyl]methylamino]benzoyl]-L-glutamic acid Rheumatrex Trexall http://www.ebi.ac.uk/efo/EFO_0001572 methotrexatum metotrexato hydroxyurea An urea that has formula CH4N2O2. CH4N2O2 CHEBI_44423 Hydroxycarbamid Hydroxyharnstoff InChI=1/CH4N2O2/c2-1(4)3-5/h5H,(H3,2,3,4)/f/h3H,2H2 InChIKey=VSNHCAURESNICA-DTXNPOPMCG N-carbamoylhydroxylamine N-hydroxyurea NC(=O)NO carbamohydroxamic acid carbamohydroximic acid carbamoyl oxime carbamyl hydroxamate http://www.ebi.ac.uk/efo/EFO_0001554 hydrea hydroxycarbamide oxyurea nimesulide 4'-nitro-2'-phenoxymethanesulfonanilide 4-NITRO-2-PHENOXYMETHANESULFONANILIDE Beilstein:2421175 C13H12N2O5S CS(=O)(=O)Nc1ccc(cc1Oc1ccccc1)[N+]([O-])=O ChEMBL:185553 ChemIDplus:51803-78-2 Class imported / merged by efoimporter InChI=1S/C13H12N2O5S/c1-21(18,19)14-12-8-7-10(15(16)17)9-13(12)20-11-5-3-2-4-6-11/h2-9,14H,1H3 InChIKey=HYWYRSMBCFDLJT-UHFFFAOYSA-N KEGG DRUG:D01049 N-(4-nitro-2-phenoxyphenyl)methanesulfonamide Nimesulide PDBeChem:NIM Wikipedia:Nimesulide 10-trans,12-cis-octadecadienoic acid (E,Z)-octadeca-10,12-dienoic acid 10,12-trans,cis-octadecanoic acid 10-trans-12-cis-CLA 10-trans-12-cis-conjugated linoleic acid 10-trans-12-cis-linoleic acid 10-trans-12-cis-octadecadienoic acid C18:2, n-6,8 cis,trans Jon Ison http://www.ebi.ac.uk/efo/EFO_0003287 trans-10,cis-12-conjugated linoleic acid 10-trans-12-cis-octadecadienoic acid PDBeChem:ODD "PDBeChem" Reaxys:1726562 "Reaxys Registry Number" 10-trans-12-cis-conjugated linoleic acid C18:2, n-6,8 cis,trans CHEBI_38395 10-trans-12-cis-CLA 10,12-trans,cis-octadecanoic acid 10-trans-12-cis-linoleic acid CHEBI_44522 "An octadeca-10,12-dienoic acid having 10-trans,12-cis-configuration." [] (E,Z)-octadeca-10,12-dienoic acid LIPID MAPS:LMFA01030125 "LIPID MAPS instance" 10,12-trans,cis-octadecanoic acid 10-trans-12-cis-conjugated linoleic acid 10-trans-12-cis-CLA C18:2, n-6,8 cis,trans (E,Z)-octadeca-10,12-dienoic acid 10-trans-12-cis-linoleic acid 10-trans-12-cis-octadecadienoic acid afimoxifene 4-HYDROXYTAMOXIFEN 4-OHT 4-hydroxytamoxifen 4-monohydroxytamoxifen C26H29NO2 CC\\C(c1ccccc1)=C(/c1ccc(O)cc1)c1ccc(OCCN(C)C)cc1 ChEMBL:106402 ChemIDplus:68392-35-8 CiteXplore:15159443 CiteXplore:16120301 CiteXplore:17351746 CiteXplore:20006599 CiteXplore:22388692 Class imported / merged by efoimporter Ele Holloway InChI=1S/C26H29NO2/c1-4-25(20-8-6-5-7-9-20)26(21-10-14-23(28)15-11-21)22-12-16-24(17-13-22)29-19-18-27(2)3/h5-17,28H,4,18-19H2,1-3H3/b26-25- InChIKey=TXUZVZSFRXZGTL-QPLCGJKRSA-N James Malone KEGG DRUG:D06551 PDBeChem:OHT Reaxys:4910748 Tomasz Adamusiak Wikipedia:Afimoxifene afimoxifene http://www.ebi.ac.uk/efo/EFO_0003242 propofol 2,6-Diisopropylphenol 2,6-bis(1-methylethyl)phenol 2,6-bis(propan-2-yl)phenol A phenol resulting from the formal substitution of the hydrogen at the 2 position of 1,3-diisopropylbenzene by a hydroxy group. A phenol that has formula C12H18O. C12H18O CC(C)c1cccc(C(C)C)c1O CHEBI_44915 Diprivan Disoprivan Disoprofol InChI=1/C12H18O/c1-8(2)10-6-5-7-11(9(3)4)12(10)13/h5-9,13H,1-4H3 InChIKey=OLBCVFGFOZPWHH-UHFFFAOYAE James Malone Rapinovet http://www.ebi.ac.uk/efo/EFO_0001599 propofolum 1,10-phenanthroline 4,5-diazaphenanthrene A phenanthroline that has formula C12H8N2. C12H8N2 CHEBI_44975 Ele Holloway InChI=1/C12H8N2/c1-3-9-5-6-10-4-2-8-14-12(10)11(9)13-7-1/h1-8H InChIKey=DGEZNRSVGBDHLK-UHFFFAOYAW James Malone c1cnc2c(c1)ccc1cccnc21 http://www.ebi.ac.uk/efo/EFO_0002483 o-Phenanthroline orthophenanthroline phen pentamidine 1,5-bis(4-amidinophenoxy)pentane 4,4'-(1,5-pentanediylbis(oxy))bis-benzenecarboximidamide 4,4'-(pentamethylenedioxy)dibenzamidine 4,4'-Diamidinodiphenoxypentane 4,4'-[pentane-1,5-diylbis(oxy)]dibenzenecarboximidamide C19H24N4O2 ChEMBL:103965 ChemIDplus:100-33-4 ChemIDplus:3159790 CiteXplore:11438428 CiteXplore:14603035 CiteXplore:15711592 CiteXplore:18971316 CiteXplore:19966562 CiteXplore:22046004 CiteXplore:22093811 CiteXplore:22200378 CiteXplore:22327112 Class imported / merged by efoimporter DrugBank:DB00738 InChI=1S/C19H24N4O2/c20-18(21)14-4-8-16(9-5-14)24-12-2-1-3-13-25-17-10-6-15(7-11-17)19(22)23/h4-11H,1-3,12-13H2,(H3,20,21)(H3,22,23) InChIKey=XDRYMKDFEDOLFX-UHFFFAOYSA-N KEGG COMPOUND:100-33-4 KEGG COMPOUND:C07420 KEGG DRUG:D08333 NC(=N)c1ccc(OCCCCCOc2ccc(cc2)C(N)=N)cc1 PDBeChem:PNT Patent:EP975608 Patent:GB507565 Patent:US2006235001 Patent:US2008167296 Patent:US2008214569 Patent:US2394003 Patent:US7115665 Pentamidine Reaxys:3159790 Wikipedia:Pentamidine http://www.ebi.ac.uk/efo/EFO_0001590 p,p'-(pentamethylenedioxy)dibenzamidine pentamidine diclofenac sodium (o-(2,6-dichloroanilino)phenyl)acetic acid monosodium salt (o-(2,6-dichloroanilino)phenyl)acetic acid sodium salt 2-((2,6-dichlorophenyl)amino)benzeneacetic acid monosodium salt An organic sodium salt that has formula C14H10Cl2NNaO2. C14H10Cl2NNaO2 C14H10Cl2NO2.Na CHEBI_4509 InChI=1/C14H11Cl2NO2.Na/c15-10-5-3-6-11(16)14(10)17-12-7-2-1-4-9(12)8-13(18)19;/h1-7,17H,8H2,(H,18,19);/q;+1/p-1/fC14H10Cl2NO2.Na/q-1;m InChIKey=KPHWPUGNDIVLNH-VDPPZFTLCG The sodium salt of diclofenac. [Na+].[O-]C(=O)Cc1ccccc1Nc1c(Cl)cccc1Cl http://www.ebi.ac.uk/efo/EFO_0001520 sodium (o-((2,6-dichlorophenyl)amino)phenyl)acetate sodium (o-(2,6-dichloroanilino)phenyl)acetate sodium {2-[(2,6-dichlorophenyl)amino]phenyl}acetate praziquantel Class imported / merged by efoimporter imatinib 4-(4-METHYL-PIPERAZIN-1-YLMETHYL)-N-[4-METHYL-3-(4-PYRIDIN-3-YL-PYRIMIDIN-2-YLAMINO)-PHENYL]-BENZAMIDE 4-[(4-methylpiperazin-1-yl)methyl]-N-{4-methyl-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]phenyl}benzamide A N-methylpiperazine that has formula C29H31N7O. C29H31N7O CHEBI_45783 CN1CCN(CC1)Cc1ccc(cc1)C(=O)Nc1ccc(C)c(Nc2nccc(n2)-c2cccnc2)c1 InChI=1/C29H31N7O/c1-21-5-10-25(18-27(21)34-29-31-13-11-26(33-29)24-4-3-12-30-19-24)32-28(37)23-8-6-22(7-9-23)20-36-16-14-35(2)15-17-36/h3-13,18-19H,14-17,20H2,1-2H3,(H,32,37)(H,31,33,34)/f/h32,34H InChIKey=KTUFNOKKBVMGRW-RPGFEBOUCX James Malone STI 571 alpha-(4-methyl-1-piperazinyl)-3'-((4-(3-pyridyl)-2-pyrimidinyl)amino)-p-toluidide http://www.ebi.ac.uk/efo/EFO_0001555 paclitaxel (2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha R*,betaS*),11alpha,12alpha,12balpha))-beta-(Benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester 4alpha,10beta-bis(acetyloxy)-13alpha-[(2S,3S)-3-benzamido-2-hydroxy-3-phenylpropanoyloxy]-1,7beta-dihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate 5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine C47H51NO14 ChEMBL:108062 ChemIDplus:33069-62-4 Class imported / merged by efoimporter InChI=1S/C47H51NO14/c1-25-31(60-43(56)36(52)35(28-16-10-7-11-17-28)48-41(54)29-18-12-8-13-19-29)23-47(57)40(61-42(55)30-20-14-9-15-21-30)38-45(6,32(51)22-33-46(38,24-58-33)62-27(3)50)39(53)37(59-26(2)49)34(25)44(47,4)5/h7-21,31-33,35-38,40,51-52,57H,22-24H2,1-6H3,(H,48,54)/t31-,32-,33+,35-,36+,37+,38-,40-,45+,46-,47+/m0/s1 InChIKey=RCINICONZNJXQF-MZXODVADSA-N James Malone KEGG COMPOUND:33069-62-4 KEGG COMPOUND:C07394 KEGG DRUG:D00491 PDBeChem:TA1 Paclitaxel TAXOL Taxol A Wikipedia:Paclitaxel [H][C@]12[C@H](OC(=O)c3ccccc3)[C@]3(O)C[C@H](OC(=O)[C@H](O)[C@@H](NC(=O)c4ccccc4)c4ccccc4)C(C)=C([C@@H](OC(C)=O)C(=O)[C@]1(C)[C@@H](O)C[C@H]1OC[C@@]21OC(C)=O)C3(C)C http://www.ebi.ac.uk/efo/EFO_0001622 trifluoperazine 10-[3-(4-METHYL-PIPERAZIN-1-YL)-PROPYL]-2-TRIFLUOROMETHYL-10H-PHENOTHIAZINE 10-[3-(4-methyl-1-piperazinyl)propyl]-2-(trifluoromethyl)-10H-phenothiazine 10-[3-(4-methylpiperazin-1-yl)propyl]-2-(trifluoromethyl)-10H-phenothiazine Beilstein:57272 C21H24F3N3S CN1CCN(CCCN2c3ccccc3Sc3ccc(cc23)C(F)(F)F)CC1 ChEMBL:101325 ChemIDplus:117-89-5 CiteXplore:1650428 Class imported / merged by efoimporter DrugBank:DB00831 Gmelin:2415561 InChI=1S/C21H24F3N3S/c1-25-11-13-26(14-12-25)9-4-10-27-17-5-2-3-6-19(17)28-20-8-7-16(15-18(20)27)21(22,23)24/h2-3,5-8,15H,4,9-14H2,1H3 InChIKey=ZEWQUBUPAILYHI-UHFFFAOYSA-N James Malone KEGG COMPOUND:117-89-5 KEGG COMPOUND:C07168 KEGG DRUG:D08636 NIST Chemistry WebBook:117-89-5 PDBeChem:TFP Trifluoperazine Wikipedia:Trifluoperazine http://www.ebi.ac.uk/efo/EFO_0001631 trifluoperazina trifluoperazine trifluoperazinum trifluoromethyl-10-(3'-(1-methyl-4-piperazinyl)propyl)phenothiazine trifluoroperazine trifluperazine tacrine 1,2,3,4-tetrahydro-9-acridinamine 1,2,3,4-tetrahydro-9-aminoacridine 5-amino-6,7,8,9-tetrahydroacridine 9-amino-1,2,3,4-tetrahydroacridine Jon Ison TACRINE Tacrine http://www.ebi.ac.uk/efo/EFO_0003170 tetrahydroaminacrine ChemIDplus:321-64-2 "CAS Registry Number" Wikipedia:Tacrine "Wikipedia" NIST Chemistry WebBook:321-64-2 "CAS Registry Number" CHEBI_9389 "An aromatic amine that has formula C13H14N2." [] KEGG COMPOUND:C01453 "KEGG COMPOUND" KEGG COMPOUND:321-64-2 "CAS Registry Number" CHEBI_45978 Beilstein:147610 "Beilstein Registry Number" PDBeChem:THA "PDBeChem" trichostatin A (2E,4E,6R)-7-(4-(dimethylamino)phenyl)-N-hydroxy-4,6-dimethyl-7-oxo-2,4-heptadienamide (2E,4E,6R)-7-[4-(dimethylamino)phenyl]-N-hydroxy-4,6-dimethyl-7-oxohepta-2,4-dienamide A trichostatin that has formula C17H22N2O3. C17H22N2O3 CHEBI_46024 C[C@@H](C(=O)c1ccc(cc1)N(C)C)\\C=C(C)\\C=C\\C(=O)NO InChI=1/C17H22N2O3/c1-12(5-10-16(20)18-22)11-13(2)17(21)14-6-8-15(9-7-14)19(3)4/h5-11,13,22H,1-4H3,(H,18,20)/b10-5+,12-11+/t13-/m1/s1/f/h18H InChIKey=RTKIYFITIVXBLE-LPBLKGKXDH James Malone TSA http://www.ebi.ac.uk/efo/EFO_0001630 2,4,6-trinitrotoluene 1-methyl-2,4,6-trinitrobenzene 2,4,6-TNT 2,4,6-Trinitrotoluol 2,4,6-trinitrotoluene 2-methyl-1,3,5-trinitrobenzene Beilstein:1887900 C7H5N3O6 Cc1c(cc(cc1[N+]([O-])=O)[N+]([O-])=O)[N+]([O-])=O ChEMBL:798695 ChemIDplus:118-96-7 CiteXplore:19427119 CiteXplore:20219247 Class imported / merged by efoimporter InChI=1S/C7H5N3O6/c1-4-6(9(13)14)2-5(8(11)12)3-7(4)10(15)16/h2-3H,1H3 InChIKey=SPSSULHKWOKEEL-UHFFFAOYSA-N NIST Chemistry WebBook:118-96-7 PDBeChem:TNL Reaxys:1887900 TNT Trinitrotoluen Trinitrotoluol Tritol Trotyl Wikipedia:Trinitrotoluene alpha-TNT s-Trinitrotoluol s-trinitrotoluene sym-Trinitrotoluol trinitrotoluene fluconazole 2,4-difluoro-alpha,alpha-bis(1H-1,2,4-triazol-1-ylmethyl)benzyl alcohol 2-(2,4-DIFLUOROPHENYL)-1,3-DI(1H-1,2,4-TRIAZOL-1-YL)PROPAN-2-OL 2-(2,4-difluorophenyl)-1,3-bis-(1H-1,2,4-triazol-1-yl)propan-2-ol 2-(2,4-difluorophenyl)-1,3-di-1H-1,2,4-triazol-1-ylpropan-2-ol 20627 627 86386-73-4 A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath. A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-13 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C13H12F2N6O][accessDate: 05-04-2011] A tertiary alcohol that has formula C13H12F2N6O. A triazole that has formula C13H12F2N6O. Biozolene C13 Urea C13 Urea[accessedResource: C13H12F2N6O][accessDate: 05-04-2011] C13H12F2N6O C13H12F2N6O Diflucan Elazor Helicosol Helicosol[accessedResource: C13H12F2N6O][accessDate: 05-04-2011] InChI=1/C13H12F2N6O/c14-10-1-2-11(12(15)3-10)13(22,4-20-8-16-6-18-20)5-21-9-17-7-19-21/h1-3,6-9,22H,4-5H2 InChIKey=RFHAOTPXVQNOHP-UHFFFAOYAZ OC(Cn1cncn1)(Cn1cncn1)c1ccc(F)cc1F Triflucan UREA, C-13 UREA, C-13[accessedResource: C13H12F2N6O][accessDate: 05-04-2011] Urea C-13 Urea C-13[accessedResource: C13H12F2N6O][accessDate: 05-04-2011] paracetamol 4'-hydroxyacetanilide 4-(Acetylamino)phenol 4-acetamidophenol APAP Acenol Acetaminofen Acetaminophen Beilstein:2208089 C8H9NO2 CC(=O)Nc1ccc(O)cc1 ChEMBL:116450 ChemIDplus:103-90-2 CiteXplore:11304127 CiteXplore:16716555 CiteXplore:21108564 CiteXplore:7602118 Class imported / merged by efoimporter DrugBank:DB00316 HMDB:HMDB01859 InChI=1S/C8H9NO2/c1-6(10)9-7-2-4-8(11)5-3-7/h2-5,11H,1H3,(H,9,10) InChIKey=RZVAJINKPMORJF-UHFFFAOYSA-N James Malone KEGG COMPOUND:103-90-2 KEGG COMPOUND:C06804 KEGG DRUG:D00217 N-(4-hydroxyphenyl)acetamide N-acetyl-p-aminophenol NIST Chemistry WebBook:103-90-2 PDBeChem:TYL Tylenol Wikipedia:Acetaminophen acetaminofen acetaminophene http://www.ebi.ac.uk/efo/EFO_0001589 p-Acetylaminophenol p-acetamidophenol p-acetaminophenol p-hydroxyacetanilide p-hydroxyphenolacetamide paracetamol paracetamolum 5-fluorouracil 5-FU 5-Fluoropyrimidine-2,4-dione 5-Fluorouracil 5-fluoropyrimidine-2,4(1H,3H)-dione 5-fluorouracil Beilstein:127172 C4H3FN2O2 ChEMBL:468538 ChemIDplus:51-21-8 Class imported / merged by efoimporter Ele Holloway Fc1c[nH]c(=O)[nH]c1=O Fluorouracil InChI=1S/C4H3FN2O2/c5-2-1-6-4(9)7-3(2)8/h1H,(H2,6,7,8,9) InChIKey=GHASVSINZRGABV-UHFFFAOYSA-N James Malone KEGG COMPOUND:51-21-8 KEGG COMPOUND:C07649 Wikipedia:Fluorouracil http://www.ebi.ac.uk/efo/EFO_0001474 http://www.ebi.ac.uk/efo/EFO_0002488 zardaverine 6-(4-(Difluoromethoxy)-3-methoxyphenyl)-3(2H)-pyridazinone 6-(4-DIFLUOROMETHOXY-3-METHOXY-PHENYL)-2H-PYRIDAZIN-3-ONE 6-[4-(difluoromethoxy)-3-methoxyphenyl]pyridazin-3(2H)-one C12H10F2N2O3 COc1cc(ccc1OC(F)F)-c1ccc(=O)[nH]n1 ChemIDplus:101975-10-4 CiteXplore:12387865 CiteXplore:12952271 CiteXplore:1426207 CiteXplore:1648920 CiteXplore:1665311 CiteXplore:1700309 CiteXplore:1723951 CiteXplore:1787170 CiteXplore:7644776 CiteXplore:7684572 CiteXplore:7925141 CiteXplore:8035322 CiteXplore:8369979 CiteXplore:8381357 CiteXplore:8392340 Class imported / merged by efoimporter Ele Holloway James Malone PDBeChem:ZAR Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003280 zardaverina zardaverine zardaverinum disopyramide 4-(diisopropylamino)-2-phenyl-2-pyridin-2-ylbutanamide Beilstein:492056 C21H29N3O CC(C)N(CCC(C(N)=O)(c1ccccc1)c1ccccn1)C(C)C ChEMBL:111143 ChemIDplus:3737-09-5 Class imported / merged by efoimporter DrugBank:DB00280 InChI=1S/C21H29N3O/c1-16(2)24(17(3)4)15-13-21(20(22)25,18-10-6-5-7-11-18)19-12-8-9-14-23-19/h5-12,14,16-17H,13,15H2,1-4H3,(H2,22,25) InChIKey=UVTNFZQICZKOEM-UHFFFAOYSA-N KEGG COMPOUND:C06965 KEGG DRUG:D00303 Patent:BE617730 Patent:US3225054 Wikipedia:Disopyramide alpha-(2-(Diisopropylamino)ethyl)-alpha-phenyl-2-pyridineacetamide disopiramida disopyramide disopyramidum gamma-Diisopropylamino-alpha-phenyl-alpha-(2-pyridyl)butyramide disulfiram 1,1',1'',1'''-[disulfanediylbis(carbonothioylnitrilo)]tetraethane 1,1'-dithiobis(N,N-diethylthioformamide) Antabuse (TN) C10H20N2S4 CCN(CC)C(=S)SSC(=S)N(CC)CC ChEMBL:194571 ChemIDplus:97-77-8 Class imported / merged by efoimporter Disulfiram InChI=1S/C10H20N2S4/c1-5-11(6-2)9(13)15-16-10(14)12(7-3)8-4/h5-8H2,1-4H3 InChIKey=AUZONCFQVSMFAP-UHFFFAOYSA-N KEGG COMPOUND:97-77-8 KEGG COMPOUND:C01692 KEGG DRUG:D00131 N,N,N',N'-tetraethylthiuram disulfide NIST Chemistry WebBook:97-77-8 Wikipedia:Disulfiram bis(diethylthiocarbamoyl) disulfide tetraethylthioperoxydicarbonic diamide tetraethylthiuram disulfide tetraethylthiuram disulphide asbestos Asbest CHEBI_46661 Fibrous incombustible mineral composed of magnesium and calcium silicates with or without other elements. asbesto http://www.ebi.ac.uk/efo/EFO_0001490 polyethylene glycol (C2H4O)n 1,2-ethanediol homopolymer 25322-68-3 27862 A polymer composed of repeating ethyleneoxy units. C2 Mouse C2 Mouse[accessedResource: C2H6O2][accessDate: 05-04-2011] C2H6O2 C2[accessedResource: C2H6O2][accessDate: 05-04-2011] Macrogol PEG PEO POE Polyaethylenglykol Polyaethylenglykole alpha,omega-hydroxypoly(ethylene oxide) alpha-hydro-omega-hydroxypoly(oxy-1,2-ethanediyl) alpha-hydro-omega-hydroxypoly(oxyethylene) ethylene glycol ethylene glycol homopolymer ethylene glycol polymer poly(ethylene glycol) poly(ethyleneoxide) poly(oxyethylene) polyethylene glycols polyethylene oxide polyoxyethylene polidocanol 3,6,9,12,15,18,21,24,27-nonaoxanonatriacontan-1-ol Beilstein:1895308 C30H62O10 CCCCCCCCCCCCOCCOCCOCCOCCOCCOCCOCCOCCOCCO ChEMBL:794073 ChemIDplus:3055-99-0 CiteXplore:15288214 CiteXplore:19161266 CiteXplore:19912070 CiteXplore:20348378 CiteXplore:20737152 CiteXplore:21111641 CiteXplore:21290126 CiteXplore:21393261 CiteXplore:21557180 CiteXplore:21740464 CiteXplore:21818522 CiteXplore:21849198 CiteXplore:22050766 CiteXplore:22230599 CiteXplore:22238058 CiteXplore:22241291 CiteXplore:22309639 Class imported / merged by efoimporter DODECYL NONA ETHYLENE GLYCOL ETHER Ele Holloway InChI=1S/C30H62O10/c1-2-3-4-5-6-7-8-9-10-11-13-32-15-17-34-19-21-36-23-25-38-27-29-40-30-28-39-26-24-37-22-20-35-18-16-33-14-12-31/h31H,2-30H2,1H3 InChIKey=ONJQDTZCDSESIW-UHFFFAOYSA-N James Malone KEGG COMPOUND:3055-99-0 KEGG COMPOUND:C13493 Nonaethylene glycol monododecyl ether PDBeChem:CE9 Polidocanol Reaxys:1895308 Tomasz Adamusiak Wikipedia:Polidocanol http://www.ebi.ac.uk/efo/EFO_0003283 nonaethylene glycol monolauryl ether S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys A diacyl lipopeptide that has formula C65H126N10O12S. C65H126N10O12S CCCCCCCCCCCCCCCC(=O)OCC(CSC[C@H](N)C(=O)N[C@@H](CO)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CCCCN)C(O)=O)OC(=O)CCCCCCCCCCCCCCC CHEBI_46889 InChI=1/C65H126N10O12S/c1-3-5-7-9-11-13-15-17-19-21-23-25-27-41-58(77)86-48-51(87-59(78)42-28-26-24-22-20-18-16-14-12-10-8-6-4-2)49-88-50-52(70)60(79)75-57(47-76)64(83)73-54(38-30-34-44-67)62(81)71-53(37-29-33-43-66)61(80)72-55(39-31-35-45-68)63(82)74-56(65(84)85)40-32-36-46-69/h51-57,76H,3-50,66-70H2,1-2H3,(H,71,81)(H,72,80)(H,73,83)(H,74,82)(H,75,79)(H,84,85)/t51?,52-,53-,54-,55-,56-,57-/m0/s1/f/h71-75,84H InChIKey=LJUIOEFZFQRWJG-URZMOCQLDI Pam2CSK4 S-[2,3-bis(hexadecanoyloxy)propyl]-L-cysteinyl-L-seryl-L-lysyl-L-lysyl-L-lysyl-L-lysine S-[2,3-bis(palmitoyloxy)-(2RS)-propyl]-[R]-cysteinyl-[S]-seryl-[S]-lysyl-[S]-lysyl-[S]-lysyl-[S]-lysine S-[2,3-bis(palmitoyloxy)propyl]-L-cysteinyl-L-seryl-L-lysyl-L-lysyl-L-lysyl-L-lysine http://www.ebi.ac.uk/efo/EFO_0001607 1-4-dioxane 1,4-DIETHYLENE DIOXIDE 1,4-dioxacyclohexane 1,4-dioxane 1,4-dioxane 123-91-1 20533 533 A dioxane that has formula C4H8O2. C1COCCO1 C4H8O2 C4H8O2 C4[accessedResource: C4H8O2][accessDate: 05-04-2011] Complement C4 Complement C4 Measurement[accessedResource: C4H8O2][accessDate: 05-04-2011] Complement C4[accessedResource: C4H8O2][accessDate: 05-04-2011] Complement Component-4 Complement component-4 (1744 aa, ~193 kDa) is part of the complement cascade, which mediates the innate immune response to infection. The full length protein is a precursor that can is secreted as a trimeric molecule containing an alpha, beta and gamma chain. When the complement cascade is initiated, the protein is cleaved. This proteolysis releases both the alpha chain, C4 anaphylatoxin, which stimulates inflammation, and a dimer of the beta and gamma chains, which mediates the interaction between the antigen-antibody complex and other complement components. Dioxan-1,4 InChI=1/C4H8O2/c1-2-6-4-3-5-1/h1-4H2 InChIKey=RYHBNJHYFVUHQT-UHFFFAOYAN The determination of the amount of complement C4 present in a sample. The determination of the amount of complement C4 present in a sample.[accessedResource: C4H8O2][accessDate: 05-04-2011] di(ethylene oxide) glycol ethylene ether p-Dioxane tetrahydro-1,4-dioxin tetrahydro-p-dioxin tetrahydro-para-dioxin diclofenac 15307-86-5 2-[(2,6-dichlorophenyl)amino]benzeneacetic acid A monocarboxylic acid consisting of phenylacetic acid having a (2,6-dichlorophenyl)amino group at the 2-position. A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt. A non-steroidal anti-inflammatory drug (NSAID), administered primarily as its sodium salt. C14H11Cl2NO2 InChI=1/C14H11Cl2NO2/c15-10-5-3-6-11(16)14(10)17-12-7-2-1-4-9(12)8-13(18)19/h1-7,17H,8H2,(H,18,19)/f/h18H InChIKey=DCOPUUMXTXDBNB-GPQMBLKYCR OC(=O)Cc1ccccc1Nc1c(Cl)cccc1Cl [2-(2,6-dichloroanilino)phenyl]acetic acid diclofenac acid diclofenaco diclofenacum {2-[(2,6-dichlorophenyl)amino]phenyl}acetic acid cefazolin (6R,7R)-3-{[(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl}-8-oxo-7-[(1H-tetrazol-1-ylacetyl)amino]-5-thia-1-azabicyclo[4.2.0]oct-2-ene-2-carboxylic acid 25953-19-9 3-{[(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl}-7beta-[(1H-tetrazol-1-ylacetyl)amino]-3,4-didehydrocepham-4-carboxylic acid A cephalosporin compound having [(5-methyl-1,3,4-thiadiazol-2-yl)sulfanyl]methyl and (1H-tetrazol-1-ylacetyl)amino side groups. C14H14N8O4S3 CEZ Cefamezin Cephamezine Cephazolidin Cephazolin Cephazoline InChI=1/C14H14N8O4S3/c1-6-17-18-14(29-6)28-4-7-3-27-12-9(11(24)22(12)10(7)13(25)26)16-8(23)2-21-5-15-19-20-21/h5,9,12H,2-4H2,1H3,(H,16,23)(H,25,26)/t9-,12-/m1/s1/f/h16,25H InChIKey=MLYYVTUWGNIJIB-JIWNMBEODB [H][C@]12SCC(CSc3nnc(C)s3)=C(N1C(=O)[C@H]2NC(=O)Cn1cnnn1)C(O)=O cefazolina cefazoline cefazolinum caspofungin (4R,5S)-5-((2-aminoethyl)amino)-N(2)-(10,12-dimethyltetradecanoyl)-4-hydroxy-L-ornithyl-L-threonyl-trans-4-hydroxy-L-prolyl-(S)-4-hydroxy-4-(p-hydroxyphenyl)-L-threonyl-threo-3-hydroxy-L-ornithyl-trans-3-hydroxy-L-proline cyclic (6-1)-peptide 1-[(4R,5S)-5-[(2-aminoethyl)amino]-N(2)-(10,12-dimethyl-1-oxotetradecyl)-4-hydroxy-L-ornithine]-5-[(3R)-3-hydroxy-L-ornithine]-pneumocandin B0 179463-17-3 A semisynthetic cyclic hexapeptide echinocandin antibiotic which exerts its effect by inhibiting the synthesis of 1,3-beta-D-glucan, an integral component of the fungal cell wall. C52H88N10O15 InChI=1/C52H88N10O15/c1-5-28(2)24-29(3)12-10-8-6-7-9-11-13-39(69)56-34-26-38(68)46(55-22-21-54)60-50(75)43-37(67)19-23-61(43)52(77)41(36(66)18-20-53)58-49(74)42(45(71)44(70)31-14-16-32(64)17-15-31)59-48(73)35-25-33(65)27-62(35)51(76)40(30(4)63)57-47(34)72/h14-17,28-30,33-38,40-46,55,63-68,70-71H,5-13,18-27,53-54H2,1-4H3,(H,56,69)(H,57,72)(H,58,74)(H,59,73)(H,60,75)/t28?,29?,30-,33-,34+,35+,36-,37+,38-,40+,41+,42+,43+,44+,45+,46+/m1/s1/f/h56-60H InChIKey=JYIKNQVWKBUSNH-FUOOKJLVDM N-{(2R,6S,9S,11R,12S,14aS,15S,20S,23S,25aS)-12-[(2-aminoethyl)amino]-20-[(1R)-3-amino-1-hydroxypropyl]-23-[(1S2S)-1,2-dihydroxy-2-(4-hydroxyphenyl)ethyl]-2,11,15-trihydroxy-6-[(1R)-1-hydroxyethyl]-5,8,14,19,22,25-hexaoxotetracosahydro-1H-dipyrrolo[2,1-c:2',1'-l][1,4,7,10,13,16]hexaazacyclohenicosin-9-yl}-10,12-dimethyltetradecanamide [H][C@@]1(C[C@@H](O)[C@@H](NCCN)NC(=O)[C@@H]2[C@@H](O)CCN2C(=O)[C@@H](NC(=O)[C@@H](NC(=O)[C@]2([H])C[C@@H](O)CN2C(=O)[C@@H](NC1=O)[C@@H](C)O)[C@H](O)[C@@H](O)c1ccc(O)cc1)[C@H](O)CCN)NC(=O)CCCCCCCCC(C)CC(C)CC furosemide 2-Furfurylamino-4-chloro-5-sulfamoylbenzoic acid 4-Chloro-5-sulfamoyl-N-furfuryl-anthranilic acid 4-Chloro-N-(2-furylmethyl)-5-sulfamoylanthranilic acid 4-Chloro-N-furfuryl-5-sulfamoylanthranilic acid 4-chloro-2-{[(furan-2-yl)methyl]amino}-5-sulfamoylbenzoic acid C12H11ClN2O5S ChEMBL:102046 ChemIDplus:54-31-9 Class imported / merged by efoimporter Frusemide Furosemide InChI=1S/C12H11ClN2O5S/c13-9-5-10(15-6-7-2-1-3-20-7)8(12(16)17)4-11(9)21(14,18)19/h1-5,15H,6H2,(H,16,17)(H2,14,18,19) InChIKey=ZZUFCTLCJUWOSV-UHFFFAOYSA-N KEGG DRUG:54-31-9 KEGG DRUG:D00331 Lasix (TN) NS(=O)(=O)c1cc(C(O)=O)c(NCc2ccco2)cc1Cl Wikipedia:Furosemide imipramine 10,11-dihydro-N,N-dimethyl-5H-dibenz[b,f]azepine-5-propanamine 3-(10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine 3-(5H-DIBENZO[B,F]AZEPIN-5-YL)-N,N-DIMETHYLPROPAN-1-AMINE 5-[3-(dimethylamino)propyl]-10,11-dihydro-5H-dibenz[b,f]azepine Antideprin Beilstein:256892 C19H24N2 CN(C)CCCN1c2ccccc2CCc2ccccc12 ChEMBL:100605 ChemIDplus:50-49-7 Class imported / merged by efoimporter DrugBank:DB00458 Gmelin:1572523 Imipramin Imipramine InChI=1S/C19H24N2/c1-20(2)14-7-15-21-18-10-5-3-8-16(18)12-13-17-9-4-6-11-19(17)21/h3-6,8-11H,7,12-15H2,1-2H3 InChIKey=BCGWQEUPMDMJNV-UHFFFAOYSA-N Irmin KEGG COMPOUND:50-49-7 KEGG COMPOUND:C07049 Melipramine N-(gamma-dimethylaminopropyl)iminodibenzyl NIST Chemistry WebBook:50-49-7 PDBeChem:IXX Patent:US2554736 Wikipedia:Imipramine imipramine imipraminum imizine cis-ketoconazole (+-)-cis-1-acetyl-4-(p-((2-(2,4-dichlorophenyl)-2-(imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine 1-acetyl-4-(4-{[rel-(2R,4S)-2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy}phenyl)piperazine C26H28Cl2N4O4 ChemIDplus:4303081 ChemIDplus:65277-42-1 Class imported / merged by efoimporter DrugBank:DB01026 Fungarest Fungoral Gmelin:1713206 KEGG DRUG:65277-42-1 KEGG DRUG:D00351 Ketoderm Ketoisdin Nizoral Panfungol Patent:DE2804096 Patent:US4144346 Xolegel cis-1-acetyl-4-(4-((2-(2,4-dichlorophenyl)-2-(1H-imidazol-1-ylmethyl)-1,3-dioxolan-4-yl)methoxy)phenyl)piperazine ketoconazole ketoconazolum bezafibrate 2-(p-(2-(p-Chlorobenzamido)ethyl)phenoxy)-2-methylpropionic acid 2-[P-[2-P-CHLOROBENZAMIDO)ETHYL]PHENOXY]-2-METHYLPROPIONIC ACID 2-{4-[2-(4-chlorobenzamido)ethyl]phenoxy}-2-methylpropanoic acid Befizal Bezalip Bezatol SR (TN) C19H20ClNO4 CC(C)(Oc1ccc(CCNC(=O)c2ccc(Cl)cc2)cc1)C(O)=O Cedur ChEMBL:157488 ChemIDplus:41859-67-0 Class imported / merged by efoimporter DrugBank:DB01393 InChI=1S/C19H20ClNO4/c1-19(2,18(23)24)25-16-9-3-13(4-10-16)11-12-21-17(22)14-5-7-15(20)8-6-14/h3-10H,11-12H2,1-2H3,(H,21,22)(H,23,24) InChIKey=IIBYAHWJQTYFKB-UHFFFAOYSA-N KEGG DRUG:41859-67-0 KEGG DRUG:D01366 PDBeChem:PEM Patent:DE2149070 Patent:US3781328 Wikipedia:Bezafibrate bezafibrate bezafibrato bezafibratum HDL cholesterol A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases. A class of lipoproteins of small size (4-13 nm) and dense (greater than 1.063 g/ml) particles. HDL lipoproteins, synthesized in the liver without a lipid core, accumulate cholesterol esters from peripheral tissues and transport them to the liver for re-utilization or elimination from the body (the reverse cholesterol transport). Their major protein component is APOLIPOPROTEIN A-I. HDL also shuttle APOLIPOPROTEINS C and APOLIPOPROTEINS E to and from triglyceride-rich lipoproteins during their catabolism. HDL plasma level has been inversely correlated with the risk of cardiovascular diseases.[accessedResource: MSH:D008075][accessDate: 05-04-2011] Cholesterol esters and free cholesterol which are contained in or bound to high-density lipoproteins (HDL). Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol. Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.[accessedResource: MSH:D008076][accessDate: 05-04-2011] Cholesterol, HDL Cholesterol, HDL2 Cholesterol, HDL2[accessedResource: MSH:D008076][accessDate: 05-04-2011] Cholesterol, HDL3 Cholesterol, HDL3[accessedResource: MSH:D008076][accessDate: 05-04-2011] Cholesterol, HDL[accessedResource: MSH:D008076][accessDate: 05-04-2011] Cholesterol, alpha-Lipoprotein Cholesterol, alpha-Lipoprotein[accessedResource: MSH:D008076][accessDate: 05-04-2011] HDL Lipoproteins HDL Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011] HDL(2) Cholesterol HDL(2) Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011] HDL(3) Cholesterol HDL(3) Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011] HDL2 Cholesterol HDL2 Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011] HDL3 Cholesterol HDL3 Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011] Heavy Lipoproteins Heavy Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011] High Density Lipoprotein Cholesterol High Density Lipoprotein Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011] High Density Lipoproteins High Density Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011] High-Density Lipoproteins High-Density Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011] Lipoproteins, HDL Lipoproteins, HDL[accessedResource: MSH:D008075][accessDate: 05-04-2011] Lipoproteins, Heavy Lipoproteins, Heavy[accessedResource: MSH:D008075][accessDate: 05-04-2011] Lipoproteins, High-Density Lipoproteins, High-Density[accessedResource: MSH:D008075][accessDate: 05-04-2011] MSH:D008075 MSH:D008076 Tomasz Adamusiak alpha Lipoprotein Cholesterol alpha Lipoprotein Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011] alpha Lipoproteins alpha Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011] alpha-1 Lipoprotein alpha-1 Lipoprotein[accessedResource: MSH:D008075][accessDate: 05-04-2011] alpha-Lipoprotein Cholesterol alpha-Lipoprotein Cholesterol[accessedResource: MSH:D008076][accessDate: 05-04-2011] alpha-Lipoproteins alpha-Lipoproteins[accessedResource: MSH:D008075][accessDate: 05-04-2011] high-density lipoprotein cholesterol true clomipramine 3-(3-CHLORO-5H-DIBENZO[B,F]AZEPIN-5-YL)-N,N-DIMETHYLPROPAN-1-AMINE 3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethyl-1-propanamine 3-(3-chloro-10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine 3-chloroimipramine C19H23ClN2 CN(C)CCCN1c2ccccc2CCc2ccc(Cl)cc12 ChEMBL:100996 ChemIDplus:1323477 ChemIDplus:303-49-1 CiteXplore:12007764 CiteXplore:12084414 CiteXplore:16085036 CiteXplore:17471183 CiteXplore:19810911 Class imported / merged by efoimporter Clomipramine DrugBank:DB01242 G 34586 InChI=1S/C19H23ClN2/c1-21(2)12-5-13-22-18-7-4-3-6-15(18)8-9-16-10-11-17(20)14-19(16)22/h3-4,6-7,10-11,14H,5,8-9,12-13H2,1-2H3 InChIKey=GDLIGKIOYRNHDA-UHFFFAOYSA-N KEGG COMPOUND:303-49-1 KEGG COMPOUND:C06918 NIST Chemistry WebBook:303-49-1 PDBeChem:CXX Patent:CH371799 Patent:US3467650 Reaxys:1323477 Wikipedia:Clomipramine chlorimipramine monochlorimipramine dibenzazepines CHEBI_47804 Ele Holloway James Malone dibenzazepine dibenzoazepine dibenzoazepines http://www.ebi.ac.uk/efo/EFO_0002491 sulforaphane 1-isothiocyanato-4-(methylsulfinyl)butane 4-isothiocyanatobutyl methyl sulfoxide A sulfoxide that has formula C6H11NOS2. C6H11NOS2 CHEBI_47807 CS(=O)CCCCN=C=S InChI=1/C6H11NOS2/c1-10(8)5-3-2-4-7-6-9/h2-5H2,1H3 InChIKey=SUVMJBTUFCVSAD-UHFFFAOYAY Sulforafan http://www.ebi.ac.uk/efo/EFO_0001617 enalapril (S)-1-(N-(1-(ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline (S)-1-{(S)-2-[1-((S)-Ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid 1-(N-((S)-1-carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester Beilstein:3657467 C20H28N2O5 CCOC(=O)[C@H](CCc1ccccc1)N[C@@H](C)C(=O)N1CCC[C@H]1C(O)=O ChEMBL:10669559 ChemIDplus:75847-73-3 Class imported / merged by efoimporter DrugBank:DB00584 ENALAPRIL Enalapril InChI=1S/C20H28N2O5/c1-3-27-20(26)16(12-11-15-8-5-4-6-9-15)21-14(2)18(23)22-13-7-10-17(22)19(24)25/h4-6,8-9,14,16-17,21H,3,7,10-13H2,1-2H3,(H,24,25)/t14-,16-,17-/m0/s1 InChIKey=GBXSMTUPTTWBMN-XIRDDKMYSA-N KEGG COMPOUND:75847-73-3 KEGG COMPOUND:C06977 KEGG DRUG:D07892 N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline Patent:EP12401 Patent:US4374829 Wikipedia:Enalapril enalapril enalaprila enalaprilum HC toxin CHEBI_48028 InChI=1/C21H32N4O6/c1-12-18(27)22-13(2)19(28)24-14(7-4-3-5-9-16(26)17-11-31-17)21(30)25-10-6-8-15(25)20(29)23-12/h12-15,17H,3-11H2,1-2H3,(H,22,27)(H,23,29)(H,24,28)/t12-,13+,14-,15+,17?/m0/s1/f/h22-24H InChIKey=GNYCTMYOHGBSBI-SWJGNPKQDK [H][C@]12CCCN1C(=O)[C@H](CCCCCC(=O)C1CO1)NC(=O)[C@@H](C)NC(=O)[C@H](C)NC2=O http://www.ebi.ac.uk/efo/EFO_0001551 epigallocatechin gallate (-)-Epigallocatechin-3-o-gallate (-)-epigallocatechin 3-gallate (2R,3R)-5,7-dihydroxy-2-(3,4,5-trihydroxyphenyl)-3,4-dihydro-2H-chromen-3-yl 3,4,5-trihydroxybenzoate EGCG InChI=1/C22H18O11/c23-10-5-12(24)11-7-18(33-22(31)9-3-15(27)20(30)16(28)4-9)21(32-17(11)6-10)8-1-13(25)19(29)14(26)2-8/h1-6,18,21,23-30H,7H2/t18-,21-/m1/s1 InChIKey=WMBWREPUVVBILR-WIYYLYMNBM Oc1cc(O)c2C[C@@H](OC(=O)c3cc(O)c(O)c(O)c3)[C@H](Oc2c1)c1cc(O)c(O)c(O)c1 http://www.ebi.ac.uk/efo/EFO_0002670 antiseptic drug CHEBI_48218 James Malone http://www.ebi.ac.uk/efo/EFO_0001874 trichlorofluoromethane CCl3F ChEMBL:362644 ChemIDplus:1732469 ChemIDplus:75-69-4 Class imported / merged by efoimporter Eskimon 11 FC(Cl)(Cl)Cl Freon 11 InChI=1S/CCl3F/c2-1(3,4)5 InChIKey=CYRMSUTZVYGINF-UHFFFAOYSA-N NIST Chemistry WebBook:75-69-4 fluorochloroform fluorotrichloromethane monofluorotrichloromethane trichloro(fluoro)methane trichlorofluorocarbon trichlorofluoromethane trichloromonofluoromethane serotonergic drug serotonergic antagonist 5-HT antagonists 5-hydroxytryptamine antagonists CHEBI_48279 Drugs that bind to but do not activate serotonin receptors, thereby blocking the actions of serotonin or serotonergic agonists. James Malone antiserotonergic agents http://www.ebi.ac.uk/efo/EFO_0001875 serotonin antagonists serotonin blockaders polar solvent role CHEBI_48354 James Malone http://www.ebi.ac.uk/efo/EFO_0001876 polar aprotic solvent role CHEBI_48358 James Malone http://www.ebi.ac.uk/efo/EFO_0001877 amphiprotic solvent role (13Z)-docos-13-enoic acid 3,3,6,6,8a-Pentamethyl-tetrahydro-1,8-dioxa-4a-aza-naphthalene 3,3,6,6,8a-pentamethyl-1,8-dioxaquinolizidine 3,3,6,6,8a-pentamethyltetrahydro-1,8-dioxa-4a-azanaphthalene 3,3,7,7,9a-pentamethyltetrahydro-2H,6H-[1,3]oxazino[2,3-b][1,3]oxazine A docosenoic acid that has formula C22H42O2. An oxazinooxazine that has formula C12H23NO2. C12H23NO2 CC1(C)COC2(C)OCC(C)(C)CN2C1 CHEBI_4836 InChI=1/C12H23NO2/c1-10(2)6-13-7-11(3,4)9-15-12(13,5)14-8-10/h6-9H2,1-5H3 InChIKey=HXCGBGUJRISVDD-UHFFFAOYAH James Malone erucic acid http://www.ebi.ac.uk/efo/EFO_0001878 but-1-ene 1-C4H8 1-butene 1-butylene Beilstein:1098262 C4H8 CCC=C ChEMBL:290876 ChemIDplus:106-98-9 Class imported / merged by efoimporter Gmelin:25205 InChI=1S/C4H8/c1-3-4-2/h3H,1,4H2,2H3 InChIKey=VXNZUUAINFGPBY-UHFFFAOYSA-N NIST Chemistry WebBook:106-98-9 alpha-butene alpha-butylene but-1-ene butene-1 ethylethylene olmesartan 4-(1-hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazole-5-carboxylic acid 4-(1-hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazole-5-carboxylic acid 4-(hydroxy-1-methylethyl)-2-propyl-1-{[2'-(1H-tetrazol-5-yl)-1,1'-biphenyl-4-yl]methyl}-1H-imidazole-5-carboxylic acid A biphenylyltetrazole that has formula C24H26N6O3. C24H26N6O3 CCCc1nc(c(C(O)=O)n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1)C(C)(C)O CHEBI_48416 InChI=1/C24H26N6O3/c1-4-7-19-25-21(24(2,3)33)20(23(31)32)30(19)14-15-10-12-16(13-11-15)17-8-5-6-9-18(17)22-26-28-29-27-22/h5-6,8-13,33H,4,7,14H2,1-3H3,(H,31,32)(H,26,27,28,29)/f/h26,31H InChIKey=VTRAEEWXHOVJFV-NEQLIHFBCB http://www.ebi.ac.uk/efo/EFO_0001587 angiotensin II 1-8-angiotensin I ChemIDplus:11128-99-7 Class imported / merged by efoimporter ang II angiotensina II angiotensinum II roxindole 3-(4-(3,6-dihydro-4-phenyl-1(2H)-pyridinyl)butyl)-1H-indol-5-ol 3-[4-(4-phenyl-3,6-dihydro-2H-pyridin-1-yl)butyl]-1H-indol-5-ol Jon Ison http://www.ebi.ac.uk/efo/EFO_0003188 roxindole hydrochloride ChemIDplus:112192-04-8 "CAS Registry Number" 3-[4-(4-phenyl-3,6-dihydro-2H-pyridin-1-yl)butyl]-1H-indol-5-ol 3-(4-(3,6-dihydro-4-phenyl-1(2H)-pyridinyl)butyl)-1H-indol-5-ol "A ring assembly that has formula C23H26N2O." [] Beilstein:5855538 "Beilstein Registry Number" 3-(4-(3,6-dihydro-4-phenyl-1(2H)-pyridinyl)butyl)-1H-indol-5-ol 3-[4-(4-phenyl-3,6-dihydro-2H-pyridin-1-yl)butyl]-1H-indol-5-ol dopaminergic antagonist A drug that binds to but does not activate dopamine receptors, thereby blocking the actions of dopamine or exogenous agonists. dopamine antagonist dopamine blocker dopamine receptor antagonist dopaminergic antagonists http://www.ebi.ac.uk/efo/EFO_0001879 James Malone phenylbutazone 3,5-Dioxo-1,2-diphenyl-4-n-butylpyrazolidine 4-BUTYL-1,2-DIPHENYL-PYRAZOLIDINE-3,5-DIONE 4-butyl-1,2-diphenylpyrazolidine-3,5-dione 4-n-Butyl-1,2-diphenyl-3,5-pyrazolidinedione Beilstein:290080 C19H20N2O2 CCCCC1C(=O)N(N(C1=O)c1ccccc1)c1ccccc1 ChEMBL:112417 CiteXplore:3425858 Class imported / merged by efoimporter InChI=1S/C19H20N2O2/c1-2-3-14-17-18(22)20(15-10-6-4-7-11-15)21(19(17)23)16-12-8-5-9-13-16/h4-13,17H,2-3,14H2,1H3 InChIKey=VYMDGNCVAMGZFE-UHFFFAOYSA-N KEGG COMPOUND:50-33-9 KEGG COMPOUND:C07440 KEGG DRUG:D00510 PDBeChem:P1Z Phenbutazone Phenylbutazon Phenylbutazone Wikipedia:Phenylbutazone fenilbutazona phenylbutazone phenylbutazonum lithium chloride A lithium salt that has formula ClLi. A metal chloride salt with a Li(+) counterion. CHEBI_48607 ClLi InChI=1/ClH.Li/h1H;/q;+1/p-1/fCl.Li/h1h;/q-1;m InChIKey=KWGKDLIKAYFUFQ-HPRMROJMCO LiCl Lithiumchlorid chlorure de lithium cloruro de litio http://www.ebi.ac.uk/efo/EFO_0001567 lithii chloridum ethambutol (+)-2,2'-(ethylenediimino)di-1-butanol (+)-N,N'-bis(1-(hydroxymethyl)propyl)ethylenediamine (+)-S,S-ethambutol (+)-ethambutol (2S,2'S)-2,2'-(ethane-1,2-diyldiimino)dibutan-1-ol (2S,7S)-2,7-diethyl-3,6-diazaoctane-1,8-diol (S,S)-ethambutol Beilstein:6312870 C10H24N2O2 CC[C@@H](CO)NCCN[C@@H](CC)CO ChEMBL:10649975 ChEMBL:10891117 ChEMBL:10966749 ChEMBL:12182855 ChEMBL:14695841 ChEMBL:14698152 ChEMBL:15225698 ChEMBL:16005211 ChEMBL:16759086 ChEMBL:167617 ChEMBL:16870429 ChEMBL:17210775 ChEMBL:17239593 ChEMBL:17276683 ChEMBL:17315960 ChEMBL:17331717 ChEMBL:17562368 ChEMBL:17851083 ChEMBL:17888665 ChEMBL:19524332 ChEMBL:19648006 ChEMBL:3934384 ChemIDplus:74-55-5 Class imported / merged by efoimporter DrugBank:DB00330 EMB Ethambutol InChI=1S/C10H24N2O2/c1-3-9(7-13)11-5-6-12-10(4-2)8-14/h9-14H,3-8H2,1-2H3/t9-,10-/m0/s1 InChIKey=AEUTYOVWOVBAKS-UWVGGRQHSA-N KEGG COMPOUND:74-55-5 KEGG COMPOUND:C06984 KEGG DRUG:D07925 S,S-Ethambutol Wikipedia:Ethambutol etambutol ethambutol ethambutolum sodium selenite 10102-18-8 12077 32077 A selenite salt that has formula Na2O3Se. InChI=1/2Na.H2O3Se/c;;1-4(2)3/h;;(H2,1,2,3)/q2*+1;/p-2/f2Na.O3Se/q2m;-2 InChIKey=BVTBRVFYZUCAKH-IADKYXLJCK Na2O3Se Na2O3Se Natriumselenit [Na+].[Na+].[O-][Se]([O-])=O disodium selenite disodium selenite ethionamide 2-ethylpyridine-4-carbothioamide Beilstein:116474 C8H10N2S CCc1cc(ccn1)C(N)=S ChEMBL:474005 ChemIDplus:536-33-4 Class imported / merged by efoimporter DrugBank:DB00609 ETH ETP Ethinamide Ethionamide Ethioniamide Ethylisothiamide Ethyonomide Etionamid Etionamide Etioniamid InChI=1S/C8H10N2S/c1-2-7-5-6(8(9)11)3-4-10-7/h3-5H,2H2,1H3,(H2,9,11) InChIKey=AEOCXXJPGCBFJA-UHFFFAOYSA-N KEGG COMPOUND:536-33-4 KEGG COMPOUND:C07665 KEGG DRUG:D00591 Patent:GB800250 Trecator Wikipedia:Ethionamide ethionamidum etionamida benzothiadiazole benzothiadiazoles http://en.wikipedia.org/wiki/Benzodiazepines A benzodiazepine (sometimes colloquially "benzo"; often abbreviated "BZD") is a psychoactive drug whose core chemical structure is the fusion of a benzene ring and a diazepine ring. The first benzodiazepine, chlordiazepoxide (Librium), was discovered accidentally by Leo Sternbach in 1955, and made available in 1960 by Hoffmann La Roche, which has also marketed diazepam (Valium) since 1963.[1] cholinergic antagonist Anticholinergika Anticholinergikum Any drug that binds to but does not activate cholinergic receptors, thereby blocking the actions of acetylcholine or cholinergic agonists. CHEBI_48873 James Malone acetylcholine antagonists acetylcholine receptor antagonist agent anticholinergique agente anticolinergico agentes anticolinergicos anticholinergic agents anticholinergics anticholinergiques anticolinergicos cholinergic-blocking agents http://www.ebi.ac.uk/efo/EFO_0001880 muscarinic antagonist A drug that binds to but does not activate muscarinic cholinergic receptors, thereby blocking the actions of endogenous acetylcholine or exogenous agonists. Antimuskarinika Antimuskarinikum CHEBI_48876 James Malone agente antimuscarinico agentes antimuscarinicos agents antimuscariniques antimuscarinic agents antimuscarinicos http://www.ebi.ac.uk/efo/EFO_0001881 muscarinic acetylcholine receptor antagonist muscarinic antagonists 1,1'-azobis(N,N-dimethylformamide) 10465-78-8 3-(N,N-dimethylcarbamoylimido)-1,1-dimethylurea A monoazo compound that has formula C6H12N4O2. C6H12N4O2 CN(C)C(=O)N=NC(=O)N(C)C Diamide InChI=1/C6H12N4O2/c1-9(2)5(11)7-8-6(12)10(3)4/h1-4H3 InChIKey=VLSDXINSOMDCBK-UHFFFAOYAG N,N,N',N'-tetramethylazobisformamide N,N,N',N'-tetramethylazodicarboxamide N,N,N',N'-tetramethylazoformamide N,N,N',N'-tetramethyldiazene-1,2-dicarboxamide TMAD azodicarboxylic acid bis-dimethylamide diazenedicarboxylic acid bis(N,N-dimethylamide) tetramethyldiazenedicarboxamide 17alpha-ethynylestradiol 17-ethinyl-3,17-estradiol 17-ethinyl-3,17-oestradiol 17-ethinylestradiol 17a-ethynylestradiol 17alpha-Ethinyl estradiol 17alpha-ethynylestra-1,3,5(10)-triene-3,17beta-diol C20H24O2 ChEMBL:131241 ChemIDplus:2419975 ChemIDplus:57-63-6 Class imported / merged by efoimporter DrugBank:DB00977 Ethinyl estradiol Ethinylestradiol Ethynyl estradiol InChI=1S/C20H24O2/c1-3-20(22)11-9-18-17-6-4-13-12-14(21)5-7-15(13)16(17)8-10-19(18,20)2/h1,5,7,12,16-18,21-22H,4,6,8-11H2,2H3/t16-,17-,18+,19+,20+/m1/s1 InChIKey=BFPYWIDHMRZLRN-SLHNCBLASA-N KEGG COMPOUND:57-63-6 KEGG COMPOUND:C07534 LIPID MAPS:LMST02010036 [H][C@]12CC[C@@]3(C)[C@@]([H])(CC[C@@]3(O)C#C)[C@]1([H])CCc1cc(O)ccc21 ethinyloestradiol etoposide (5S,5aR,8aR,9R)-9-(4-hydroxy-3,5-dimethoxyphenyl)-8-oxo-5,5a,6,8,8a,9-hexahydrofuro[3',4':6,7]naphtho[2,3-d][1,3]dioxol-5-yl 4,6-O-[(1R)-ethylidene]-beta-D-glucopyranoside (8aR,9R)-9-[4-hydroxy-3,5-bis(methyloxy)phenyl]-8-oxo-5,5a,6,8,8a,9-hexahydrofuro[3',4':6,7]naphtho[2,3-d][1,3]dioxol-5-yl 4,6-O-[(1R)-ethylidene]-beta-D-glucopyranoside 1,2,5,6-Dibenzanthracene 1,2,5,6-Dibenzanthracene[accessedResource: C29H32O13][accessDate: 05-04-2011] 24/01/1963 33419-42-0 4'-Demethylepipodophyllotoxin 9-(4,6-O-(R)-ethylidene-beta-D-glucopyranoside) 4-demethylepipodophyllotoxin beta-D-ethylideneglucoside 9-((4,6-O-Ethylidine-beta-D-glucopyranosyl)oxy)-5,8,8a,9-tetrahydro-5-(4-hydroxy-3,4-dimethyloxyphenyl)furo(3',4'':6,7)naptho-(2,3-d)-1,3-dioxol-6(5aH)-one A beta-D-glucoside that has formula C29H32O13. C29H32O13 C29H32O13 ETOP Eposin Etopophos Etoposido InChI=1/C29H32O13/c1-11-36-9-20-27(40-11)24(31)25(32)29(41-20)42-26-14-7-17-16(38-10-39-17)6-13(14)21(22-15(26)8-37-28(22)33)12-4-18(34-2)23(30)19(5-12)35-3/h4-7,11,15,20-22,24-27,29-32H,8-10H2,1-3H3/t11-,15+,20-,21-,22+,24-,25-,26-,27-,29+/m1/s1 InChIKey=VJJPUSNTGOMMGY-MRVIYFEKBZ Lastet Toposar VP-16 Vepesid [H][C@]12COC(=O)[C@]1([H])[C@H](c1cc(OC)c(O)c(OC)c1)c1cc3OCOc3cc1[C@H]2O[C@@H]1O[C@@H]2CO[C@@H](C)O[C@H]2[C@H](O)[C@H]1O etoposidum trans-Etoposide eugenol 1,3,4-Eugenol 1-Hydroxy-2-methoxy-4-allylbenzene 1-Hydroxy-2-methoxy-4-prop-2-enylbenzene 1-Hydroxy-2-methoxy-4-propenylbenzene 1-allyl-3-methoxy-4-hydroxybenzene 1-allyl-4-hydroxy-3-methoxybenzene 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H12O2][accessDate: 05-04-2011] 2-Hydroxy-5-allylanisole 2-Methoxy-4-allylphenol 2-Methoxy-4-prop-2-enylphenol 2-methoxy-4-(2-propen-1-yl)phenol 2-methoxy-4-(prop-2-en-1-yl)phenol 20617 4-Allyl-1-hydroxy-2-methoxybenzene 4-Allylcatechol-2-methyl ether 4-Allylguaiacol 4-Hydroxy-3-methoxy-1-allylbenzene 4-allyl-2-methoxyphenol 4-allyl-2-methoxyphenol 617 97-53-0 A guaiacol with an allyl chain substituted para to the hydroxy group. Aclatonium Aclatonium[accessedResource: C10H12O2][accessDate: 05-04-2011] Aconitum ferox Root Allylguaiacol C10H12O2 C10H12O2 COc1cc(CC=C)ccc1O Caryophyllic acid Choline Lactate, Acetate Choline Lactate, Acetate[accessedResource: C10H12O2][accessDate: 05-04-2011] Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl- Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H12O2][accessDate: 05-04-2011] Eugenic acid InChI=1/C10H12O2/c1-3-4-8-5-6-9(11)10(7-8)12-2/h3,5-7,11H,1,4H2,2H3 InChIKey=RRAFCDWBNXTKKO-UHFFFAOYAJ p-Allylguaiacol p-Eugenol methyleugenol 1,2-Dimethoxy-4-(2-propenyl)benzene 1,2-dimethoxy-4-(prop-2-en-1-yl)benzene 25607 4-allyl-1,2-dimethoxybenzene 5607 93-15-2 A phenylpropanoid that has formula C11H14O2. A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET). A radiotracer consisting of choline labeled with the positron-emitting isotope carbon C 11 with potential imaging use. Upon administration, C-11 choline incorporates into tumor cells through an active, carrier-mediated transport mechanism for choline and then is phosphorylated intracellularly by choline kinase, an enzyme frequently upregulated in human tumors, yielding phosphoryl C-11 choline. In turn, phosphoryl C-11 choline is integrated into phospholipids in the cell membrane as part of phosphatidylcholine. As the proliferation of cancer cells is much higher than normal cells, tumor cells exhibit an increased rate of C-11 choline uptake and incorporation, allowing tunor imaging with positron emission tomography (PET).[accessedResource: C11H14O2][accessDate: 05-04-2011] C-11 Choline C-11 Choline[accessedResource: C11H14O2][accessDate: 05-04-2011] C11 Choline C11 Choline[accessedResource: C11H14O2][accessDate: 05-04-2011] C11H14O2 C11H14O2 COc1ccc(CC=C)cc1OC Carbon C 11 Choline Carbon C 11 Choline[accessedResource: C11H14O2][accessDate: 05-04-2011] Carbon C11 Choline Eugenol methyl ether InChI=1/C11H14O2/c1-4-5-9-6-7-10(12-2)11(8-9)13-3/h4,6-8H,1,5H2,2-3H3 InChIKey=ZYEMGPIYFIJGTP-UHFFFAOYAJ Methyl eugenol O-Methyleugenol phosphatidylcholine 1,2-Diacyl-sn-glycero-3-phosphocholine 3-sn-Phosphatidylcholine C10H19NO8PR2 C[N+](C)(C)CCOP(O)(=O)OCC(COC([*])=O)OC([*])=O ChemIDplus:8002-43-5 Choline phosphatide CiteXplore:11306571 CiteXplore:14761824 CiteXplore:16882035 CiteXplore:19843309 CiteXplore:3196084 KEGG COMPOUND:C00157 Lecithol PC Phosphatidyl-N-trimethylethanolamine Phospholutein phosphatidylcholines true dasatinib 302962-49-8 40979 A N-(2-hydroxyethyl)piperazine that has formula C22H26ClN7O2S. A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration. A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011] BMS Dasatinib Brassidic Acid Brassidic Acid[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011] C22:1, n-9 trans C22:1, n-9 trans[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011] C22H26ClN7O2S C22H26ClN7O2S Cc1nc(Nc2ncc(s2)C(=O)Nc2c(C)cccc2Cl)cc(n1)N1CCN(CCO)CC1 Fatty Acid 22:1 n-9 trans Fatty Acid 22:1 n-9 trans[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011] Fatty Acid trans 22:1 n-9 Fatty Acid trans 22:1 n-9[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011] InChI=1/C22H26ClN7O2S/c1-14-4-3-5-16(23)20(14)28-21(32)17-13-24-22(33-17)27-18-12-19(26-15(2)25-18)30-8-6-29(7-9-30)10-11-31/h3-5,12-13,31H,6-11H2,1-2H3,(H,28,32)(H,24,25,26,27)/f/h27-28H InChIKey=ZBNZXTGUTAYRHI-VEORKLDJCJ N-(2-chloro-6-methylphenyl)-2-({6-[4-(2-hydroxyethyl)piperazin-1-yl]-2-methylpyrimidin-4-yl}amino)-1,3-thiazole-5-carboxamide N-(2-chloro-6-methylphenyl)-2-({6-[4-(2-hydroxyethyl)piperazin-1-yl]-2-methylpyrimidin-4-yl}amino)-1,3-thiazole-5-carboxamide Trans docos-13-enoic Acid Trans docos-13-enoic Acid[accessedResource: C22H26ClN7O2S][accessDate: 05-04-2011] dasatinibum exemestane 107868-30-4 6-methyleneandrosta-1,4-diene-3,17-dione 6-methylideneandrosta-1,4-diene-3,17-dione Androsta-1,4-diene-3,17-dione in which the hydrogens at position 6 are replaced by a double bond to a methylene group.a selective inhibitor of the aromatase (oestrogen synthase) system, it is used in the treatment of advanced breast cancer. C20H24O2 InChI=1/C20H24O2/c1-12-10-14-15-4-5-18(22)20(15,3)9-7-16(14)19(2)8-6-13(21)11-17(12)19/h6,8,11,14-16H,1,4-5,7,9-10H2,2-3H3/t14-,15-,16-,19+,20-/m0/s1 InChIKey=BFYIZQONLCFLEV-DAELLWKTBA [H][C@@]12CC(=C)C3=CC(=O)C=C[C@]3(C)[C@@]1([H])CC[C@]1(C)C(=O)CC[C@@]21[H] exemestano exemestanum copper(II) chloride 7447-39-4 Chloride of copper in which the metal is in the +2 oxidation state. Cl2Cu Cl[Cu]Cl Coclor Copper bichloride Copper chloride Copper chloride (CuCl2) Copper dichloride Copper(2+) chloride Copper(II) chloride (1:2) Copper(II) chloride dihydrate Coppertrace CuCl2 Cupric chloride Cupric chloride anhydrous Cupric chloride dihydrate Cupric dichloride InChI=1/2ClH.Cu/h2*1H;/q;;+2/p-2/f2Cl.Cu/h2*1h;/q2*-1;m InChIKey=ORTQZVOHEJQUHG-KPGHBSTOCA copper(2+) dichloride diazepam 439-14-5 7-chloro-1-methyl-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one A 1,4-benzodiazepinone that has formula C16H13ClN2O. C16H13ClN2O CN1C(=O)CN=C(c2ccccc2)c2cc(Cl)ccc12 InChI=1/C16H13ClN2O/c1-19-14-8-7-12(17)9-13(14)16(18-10-15(19)20)11-5-3-2-4-6-11/h2-9H,10H2,1H3 InChIKey=AAOVKJBEBIDNHE-UHFFFAOYAM Valium methyl diazepinone lapatinib A quinazoline that has formula C29H26ClFN4O4S. C29H26ClFN4O4S CHEBI_49603 CS(=O)(=O)CCNCc1ccc(o1)-c1ccc2ncnc(Nc3ccc(OCc4cccc(F)c4)c(Cl)c3)c2c1 GW 572016 InChI=1/C29H26ClFN4O4S/c1-40(36,37)12-11-32-16-23-7-10-27(39-23)20-5-8-26-24(14-20)29(34-18-33-26)35-22-6-9-28(25(30)15-22)38-17-19-3-2-4-21(31)13-19/h2-10,13-15,18,32H,11-12,16-17H2,1H3,(H,33,34,35)/f/h35H InChIKey=BCFGMOOMADDAQU-CSKMVECVCB N-(3-chloro-4-((3-fluorophenyl)methoxy)phenyl)-6-(5-(((2-(methylsulfonyl)ethyl)amino)methyl)-2-furanyl)-4-quinazolinamine N-[3-chloro-4-(3-fluorobenzyloxy)phenyl]-6-[5-({[2-(methanesulfonyl)ethyl]amino}methyl)furan-2-yl]quinazolin-4-amine N-{3-CHLORO-4-[(3-FLUOROBENZYL)OXY]PHENYL}-6-[5-({[2-(METHYLSULFONYL)ETHYL]AMINO}METHYL)-2-FURYL]-4-QUINAZOLINAMINE Tykerb http://www.ebi.ac.uk/efo/EFO_0001562 indomethacin 1-(p-chlorobenzoyl)-5-methoxy-2-methylindole-3-acetic acid Beilstein:497341 C19H16ClNO4 COc1ccc2n(C(=O)c3ccc(Cl)cc3)c(C)c(CC(O)=O)c2c1 ChEMBL:100173 ChemIDplus:53-86-1 Class imported / merged by efoimporter Gmelin:1446006 INDOMETHACIN InChI=1S/C19H16ClNO4/c1-11-15(10-18(22)23)16-9-14(25-2)7-8-17(16)21(11)19(24)12-3-5-13(20)6-4-12/h3-9H,10H2,1-2H3,(H,22,23) InChIKey=CGIGDMFJXJATDK-UHFFFAOYSA-N Indocin Indometacin Indomethacin James Malone KEGG COMPOUND:53-86-1 KEGG COMPOUND:C01926 KEGG DRUG:D00141 NIST Chemistry WebBook:53-86-1 PDBeChem:IMN Wikipedia:Indomethacin [1-(4-chlorobenzoyl)-5-methoxy-2-methyl-1H-indol-3-yl]acetic acid http://www.ebi.ac.uk/efo/EFO_0001557 gefitinib 4-(3'-chloro-4'-fluoroanilino)-7-methoxy-6-(3-morpholinopropoxy)quinazoline A quinazoline that has formula C22H24ClFN4O3. C22H24ClFN4O3 CHEBI_49668 COc1cc2ncnc(Nc3ccc(F)c(Cl)c3)c2cc1OCCCN1CCOCC1 InChI=1/C22H24ClFN4O3/c1-29-20-13-19-16(12-21(20)31-8-2-5-28-6-9-30-10-7-28)22(26-14-25-19)27-15-3-4-18(24)17(23)11-15/h3-4,11-14H,2,5-10H2,1H3,(H,25,26,27)/f/h27H InChIKey=XGALLCVXEZPNRQ-LELJVTLKCM Iressa James Malone N-(3-chloro-4-fluorophenyl)-7-methoxy-6-(3-(4-morpholinyl)propoxy)-4-quinazolinamine N-(3-chloro-4-fluorophenyl)-7-methoxy-6-(3-morpholin-4-ylpropoxy)quinazolin-4-amine ZD 1839 http://www.ebi.ac.uk/efo/EFO_0001541 methylmercury A methylmercury compound that has formula CH3Hg. CH3Hg CHEBI_49747 C[Hg+] Ele Holloway InChI=1/CH3.Hg/h1H3;/q;+1 InChIKey=DBUXSCUEGJMZAE-UHFFFAOYAW METHYL MERCURY ION Methylmercury II Tomasz Adamusiak [HgCH3](+) [HgMe](+) http://www.ebi.ac.uk/efo/EFO_0002730 methylmercury ion(1+) methylmercury(1+) methylmercury(II) cation monomethylmercury cation famotidine (1-Amino-3-(((2-((diaminomethylene)amino)-4-thiazolyl)methyl)thio)propylidene)sulfamide 3-(((2-((Aminoiminomethyl)amino)-4-thiazolyl)methyl)thio)-N-(aminosulfonyl)propanimidamide 3-(((2-((Diaminomethylene)amino)-4-thiazolyl)methyl)thio)-N(sup 2)-sulfamoylpropionamidine Beilstein:5767271 C8H15N7O2S3 ChEMBL:178303 ChemIDplus:76824-35-6 Class imported / merged by efoimporter DrugBank:DB00927 InChI=1S/C8H15N7O2S3/c9-6(15-20(12,16)17)1-2-18-3-5-4-19-8(13-5)14-7(10)11/h4H,1-3H2,(H2,9,15)(H2,12,16,17)(H4,10,11,13,14) InChIKey=XUFQPHANEAPEMJ-UHFFFAOYSA-N KEGG DRUG:76824-35-6 KEGG DRUG:D00318 N'-(aminosulfonyl)-3-[({2-[(diaminomethylidene)amino]-1,3-thiazol-4-yl}methyl)sulfanyl]propanimidamide N-Sulfamoyl-3-((2-guanidinothiazol-4-yl)methylthio)propionamide NC(N)=Nc1nc(CSCCC(N)=NS(N)(=O)=O)cs1 Pepcid Wikipedia:Famotidine famotidina famotidine famotidinum tetraethylenepentamine 1,11-Diamino-3,6,9-triazaundecane 1,4,7,10,13-pentaazatridecane 3,6,9-triazaundecamethylenediamine 3,6,9-triazaundecane-1,11-diamine Beilstein:506966 C8H23N5 ChEMBL:331313 ChemIDplus:112-57-2 Class imported / merged by efoimporter Gmelin:51196 InChI=1S/C8H23N5/c9-1-3-11-5-7-13-8-6-12-4-2-10/h11-13H,1-10H2 InChIKey=FAGUFWYHJQFNRV-UHFFFAOYSA-N KEGG COMPOUND:112-57-2 KEGG COMPOUND:C14690 N-(2-aminoethyl)-N'-[2-[(2-aminoethyl)amino]ethyl]-1,2-ethanediamine N-(2-aminoethyl)-N'-{2-[(2-aminoethyl)amino]ethyl}ethane-1,2-diamine NCCNCCNCCNCCN NIST Chemistry WebBook:112-57-2 TEPA Tetraethylenepentamine Tetraethylenpentamin http://www.ebi.ac.uk/efo/EFO_0001623 tetren iron(III) dicitrate Fe(III)dicitrate Iron(III)dicitrate http://www.ebi.ac.uk/efo/EFO_0003205 iron(III) citrate Fe(III)dicitrate "The complex formed between iron(III) and citrate." [] CiteXplore:11872840 "PubMed citation" Fe(III)dicitrate fenofibrate 2-(4-(4-Chlorobenzoyl)phenoxy)-2-methylpropanoic acid 1-methylethyl ester FNF Fenofibrate Finofibrate Isopropyl (4'-(p-chlorobenzoyl)-2-phenoxy-2-methyl)propionate Isopropyl 2-(4-(4-chlorobenzoyl)phenoxy)-2-methylpropionate Jon Ison Lipantil (TN) Procetofen Tricor (TN) fenofibric acid http://www.ebi.ac.uk/efo/EFO_0003228 Patent:DE2250327 "Patent" "A chlorobenzophenone that has formula C20H21ClO4." [] DrugBank:DB01039 "DrugBank" Patent:US4058552 "Patent" Wikipedia:Fenofibrate "Wikipedia" KEGG COMPOUND:49562-28-9 "CAS Registry Number" KEGG COMPOUND:C07586 "KEGG COMPOUND" KEGG DRUG:D00565 "KEGG DRUG" ChemIDplus:49562-28-9 "CAS Registry Number" fenoldopam Jon Ison fenoldopam hydrochloride http://www.ebi.ac.uk/efo/EFO_0003180 Wikipedia:Fenoldopam "Wikipedia" DrugBank:DB00800 "DrugBank" Patent:DE2751258 "Patent" "A benzazepine that has formula C16H16ClNO3." [] KEGG COMPOUND:C07693 "KEGG COMPOUND" ChemIDplus:67227-56-9 "CAS Registry Number" Patent:US4197297 "Patent" imidazole 1H-imidazol-3-ium 1H-imidazole 288-32-4 29616 C3 Gene C3 Gene[accessedResource: C3H4N2][accessDate: 05-04-2011] C3H4N2 C3H5N2 C3[accessedResource: C3H4N2][accessDate: 05-04-2011] Complement Component 3 Gene Complement Component 3 Gene[accessedResource: C3H4N2][accessDate: 05-04-2011] H2im(+) InChI=1/C3H4N2/c1-2-5-3-4-1/h1-3H,(H,4,5)/p+1/fC3H5N2/h4-5H/q+1 InChIKey=RAXXELZNTBOGNW-APSIDXPICG The cation resulting from protonation at the 3-position of 1H-imidazole. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade. This gene plays a regulatory role in the complement pathway, which is comprised of a complex proteolytic cascade.[accessedResource: C3H4N2][accessDate: 05-04-2011] c1c[nH+]c[nH]1 imidazolium imidazolium cation imidazolium ion S-nitrosoglutathione 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethylethanaminium[accessedResource: C10H16N4O7S][accessDate: 05-04-2011] 20613 40613 57564-91-7 A glutathione derivative that has formula C10H16N4O7S. Aclatonium Aclatonium[accessedResource: C10H16N4O7S][accessDate: 05-04-2011] Aconitum ferox Root C10H16N4O7S C10H16N4O7S Choline Lactate, Acetate Choline Lactate, Acetate[accessedResource: C10H16N4O7S][accessDate: 05-04-2011] Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl- Ethanaminium, 2-(2-(Acetyloxy)-1-Oxopropoxy)-N,N,N-Trimethyl-[accessedResource: C10H16N4O7S][accessDate: 05-04-2011] GSNO InChI=1/C10H16N4O7S/c11-5(10(19)20)1-2-7(15)13-6(4-22-14-21)9(18)12-3-8(16)17/h5-6H,1-4,11H2,(H,12,18)(H,13,15)(H,16,17)(H,19,20)/t5-,6-/m0/s1/f/h12-13,16,19H InChIKey=HYHSBSXUHZOYLX-MSUGUKDWDF L-gamma-glutamyl-S-nitroso-L-cysteinylglycine N-(N-L-gamma-glutamyl-S-nitroso-L-cysteinyl)glycine N[C@@H](CCC(=O)N[C@@H](CSN=O)C(=O)NCC(O)=O)C(O)=O SNOG g-glutamyl-S-nitrosocysteinylglycine glutathione thionitrite nitrosoglutathione bucladesine 3',5'-cyclic AMP dibutyrate 6-N-butanoyl-2'-O-butanoyladenosine 3',5'-(hydrogen phosphate) C18H24N5O8P CCCC(=O)Nc1ncnc2n(cnc12)[C@@H]1O[C@@H]2COP(O)(=O)O[C@H]2[C@H]1OC(=O)CCC CHEBI_50095 InChI=1/C18H24N5O8P/c1-3-5-11(24)22-16-13-17(20-8-19-16)23(9-21-13)18-15(30-12(25)6-4-2)14-10(29-18)7-28-32(26,27)31-14/h8-10,14-15,18H,3-7H2,1-2H3,(H,26,27)(H,19,20,22,24)/t10-,14-,15-,18-/m1/s1/f/h22,26H InChIKey=CJGYSWNGNKCJSB-NOICQAOIDM N(6),2'-O-dibutyryl cAMP N(6),2'-O-dibutyryl cyclic AMP N(6),O(2')-dibutyryl adenosine 3',5'-cyclic monophosphate N(6),O(2')-dibutyryl-3',5'-cyclic AMP N(6),O(2')-dibutyryladenosine 3',5'-monophosphate bucladesina bucladesinum dibutyryl 3',5'-cyclic AMP dibutyryl adenosine 3',5'-cyclic phosphate dibutyryl adenosine 3',5'-monophosphate dibutyryl cAMP dibutyryl cyclic 3',5'-adenylic acid dibutyryl cyclic AMP dibutyryl cyclic adenosine 3',5'-monophosphate dibutyryl-3',5'-AMP dibutyryladenosine 3',5'-cyclic monophosphate dibutyryladenosine cyclic monophosphate http://www.ebi.ac.uk/efo/EFO_0001495 excitatory amino acid agonist An agent that binds to and activates excitatory amino acid receptors. CHEBI_50103 James Malone excitatory amino acid agonists http://www.ebi.ac.uk/efo/EFO_0001882 sex hormone Any hormone that is responsible for controlling sexual characteristics and reproductive function. CHEBI_50112 Geschlechtshormon Geschlechtshormone James Malone Sexualhormon Sexualhormone hormone sexuelle hormones sexuelles http://www.ebi.ac.uk/efo/EFO_0001883 sex hormones androgen A steroid hormone that stimulates or controls the development and maintenance of masculine characteristics in vertebrates by binding to androgen receptors. Androgene CHEBI_50113 James Malone androgenes androgeno androgenos androgens http://www.ebi.ac.uk/efo/EFO_0001484 estrogen A steroid hormone that stimulates or controls the development and maintenance of female sex characteristics in mammals by binding to oestrogen receptors. The oestrogens are named for their importance in the oestrous cycle. Agents, Estrogenic Agents, Estrogenic[accessedResource: MSH:D004967][accessDate: 05-04-2011] Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds. Compounds that interact with ESTROGEN RECEPTORS in target tissues to bring about the effects similar to those of ESTRADIOL. Estrogens stimulate the female reproductive organs, and the development of secondary female SEX CHARACTERISTICS. Estrogenic chemicals include natural, synthetic, steroidal, or non-steroidal compounds.[accessedResource: MSH:D004967][accessDate: 05-04-2011] Compounds, Estrogenic Compounds, Estrogenic[accessedResource: MSH:D004967][accessDate: 05-04-2011] Estrogenic Agents Estrogenic Agents[accessedResource: MSH:D004967][accessDate: 05-04-2011] Estrogenic Compounds Estrogenic Compounds[accessedResource: MSH:D004967][accessDate: 05-04-2011] Estrogens Estrogens[accessedResource: MSH:D004967][accessDate: 05-04-2011] James Malone MSH:D004967 NIFSTD:nifext_5156 Oestrogen Tomasz Adamusiak estrogene estrogenes estrogenes Hormon estrogeno estrogenos http://www.ebi.ac.uk/efo/EFO_0001530 oestrogene oestrogenes oestrogens rosiglitazone 5-((4-(2-(methyl-2-pyridinylamino)ethoxy)phenyl)methyl)-2,4-thiazolidinedione 5-(4-{2-[methyl(pyridin-2-yl)amino]ethoxy}benzyl)-1,3-thiazolidine-2,4-dione BRL-49653 Beilstein:7082202 C18H19N3O3S CN(CCOc1ccc(CC2SC(=O)NC2=O)cc1)c1ccccn1 ChEMBL:120027 ChemIDplus:122320-73-4 Class imported / merged by efoimporter InChI=1S/C18H19N3O3S/c1-21(16-4-2-3-9-19-16)10-11-24-14-7-5-13(6-8-14)12-15-17(22)20-18(23)25-15/h2-9,15H,10-12H2,1H3,(H,20,22,23) InChIKey=YASAKCUCGLMORW-UHFFFAOYSA-N James Malone Patent:EP306228 Patent:US5002953 Wikipedia:Rosiglitazone http://www.ebi.ac.uk/efo/EFO_0001605 rosiglitazona rosiglitazone rosiglitazonum 5-aza-2'-deoxycytidine 4-amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-1,3,5-triazin-2(1H)-one 4-amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-s-triazin-2(1H)-one 5-azadeoxycytidine Beilstein:617982 C8H12N4O4 ChEMBL:775080 ChemIDplus:2353-33-5 Class imported / merged by efoimporter InChI=1S/C8H12N4O4/c9-7-10-3-12(8(15)11-7)6-1-4(14)5(2-13)16-6/h3-6,13-14H,1-2H2,(H2,9,11,15)/t4-,5+,6+/m0/s1 InChIKey=XAUDJQYHKZQPEU-KVQBGUIXSA-N Nc1ncn([C@H]2C[C@H](O)[C@@H](CO)O2)c(=O)n1 Wikipedia:Decitabine decitabine http://www.ebi.ac.uk/efo/EFO_0001473 1-(2,4-dichlorobenzyl)-1H-indazole-3-carboxylic acid 1-(2,4-dichlorbenzyl)-indazole-3-carboxylic acid An indazole that has formula C15H10Cl2N2O2. C15H10Cl2N2O2 CHEBI_50138 DICA Doridamina InChI=1/C15H10Cl2N2O2/c16-10-6-5-9(12(17)7-10)8-19-13-4-2-1-3-11(13)14(18-19)15(20)21/h1-7H,8H2,(H,20,21)/f/h20H InChIKey=WDRYRZXSPDWGEB-UYBDAZJACL Lonidamin OC(=O)c1nn(Cc2ccc(Cl)cc2Cl)c2ccccc12 diclondazolic acid http://www.ebi.ac.uk/efo/EFO_0001466 lonidamina lonidamine lonidaminum sodium pyruvate An organic sodium salt that has formula C3H3NaO3. C3H3NaO3 CHEBI_50144 InChI=1/C3H4O3.Na/c1-2(4)3(5)6;/h1H3,(H,5,6);/q;+1/p-1/fC3H3O3.Na/q-1;m InChIKey=DAEPDZWVDSPTHF-UFJSCRFPCI Natriumpyruvat [Na+].CC(=O)C([O-])=O http://www.ebi.ac.uk/efo/EFO_0001612 pyruvic acid, sodium salt sodium 2-oxopropanoate fenpropimorph 4-[3-(4-tert-butylphenyl)-2-methylpropyl]-2,6-dimethylmorpholine 4-[3-[4-(1,1-dimethylethyl)phenyl]-2-methylpropyl]-2,6-dimethylmorpholine A morpholine that has formula C20H33NO. C20H33NO CC(CN1CC(C)OC(C)C1)Cc1ccc(cc1)C(C)(C)C CHEBI_50148 Corbel Ele Holloway InChI=1/C20H33NO/c1-15(12-21-13-16(2)22-17(3)14-21)11-18-7-9-19(10-8-18)20(4,5)6/h7-10,15-17H,11-14H2,1-6H3 InChIKey=RYAUSSKQMZRMAI-UHFFFAOYAY James Malone Mistral http://www.ebi.ac.uk/efo/EFO_0002408 1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane 1,1-bis(2-aminoethyl)-2-hydroxy-3-oxotriazane 2,2'-(hydroxynitrosohydrazino)bis-ethanamine Beilstein:8139626 C4H13N5O2 ChEMBL:744582 ChemIDplus:146724-94-9 CiteXplore:10471084 CiteXplore:12924710 CiteXplore:16378139 CiteXplore:18512047 CiteXplore:19785659 CiteXplore:19935078 CiteXplore:20173509 Class imported / merged by efoimporter DETA NONOate Ele Holloway InChI=1S/C4H13N5O2/c5-1-3-8(4-2-6)9(11)7-10/h11H,1-6H2 InChIKey=HMRRJTFDJAVRMR-UHFFFAOYSA-N James Malone NCCN(CCN)N(O)N=O NOC-18 Reaxys:8139626 Tomasz Adamusiak diethylenetriamine NONOate http://www.ebi.ac.uk/efo/EFO_0003196 canrenoate 17beta-hydroxy-3-oxo-21a-homopregna-4,6-dien-21a-oate 3-[(8R,9S,10R,13S,14S,17R)-17-hydroxy-10,13-dimethyl-3-oxo-2,3,8,9,10,11,12,13,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-17-yl]propanoate A steroid acid anion that has formula C22H29O4. C22H29O4 CHEBI_50159 InChI=1/C22H30O4/c1-20-9-5-15(23)13-14(20)3-4-16-17(20)6-10-21(2)18(16)7-11-22(21,26)12-8-19(24)25/h3-4,13,16-18,26H,5-12H2,1-2H3,(H,24,25)/p-1/t16-,17+,18+,20+,21+,22-/m1/s1/fC22H29O4/q-1 InChIKey=PBKZPPIHUVSDNM-LKCFEDHXDC [H][C@]12CC[C@@]3(C)[C@@]([H])(CC[C@@]3(O)CCC([O-])=O)[C@]1([H])C=CC1=CC(=O)CC[C@]21C http://www.ebi.ac.uk/efo/EFO_0001499 motexafin gadolinium (PB-7-11-233'2'4)-bis(acetato-kappaO)(9,10-diethyl-20,21-bis(2-(2-(2-methoxyethoxy)ethoxy)ethoxy)-4,15-dimethyl-8,11-imino-3,6:16,13-dinitrilo-1,18-benzodiazacycloeicosine-5,14-dipropanolato-kappaN(1),kappaN(18),kappaN(23),kappaN(24),kappaN(25))gadolinium A metallotexaphyrin that has formula C52H72GdN5O14. C52H72GdN5O14 CCc1c(CC)c2C=C3C(CCCO)=C(C)C4=[N]3[Gd]356(OC(C)=O)(OC(C)=O)[N](=CC7=[N]3C(=Cc1n25)C(CCCO)=C7C)c1cc(OCCOCCOCCOC)c(OCCOCCOCCOC)cc1[N]6=C4 CHEBI_50161 Gd texaphyrin Gd-Tex InChI=1/C48H66N5O10.2C2H4O2.Gd/c1-7-35-36(8-2)40-28-42-38(12-10-14-55)34(4)46(53-42)32-50-44-30-48(63-26-24-61-22-20-59-18-16-57-6)47(62-25-23-60-21-19-58-17-15-56-5)29-43(44)49-31-45-33(3)37(11-9-13-54)41(52-45)27-39(35)51-40;2*1-2(3)4;/h27-32,54-55H,7-26H2,1-6H3;2*1H3,(H,3,4);/q-1;;;+3/p-2/b39-27-,40-28-,41-27-,42-28-,45-31-,46-32-,49-31+,49-43+,50-32+,50-44+;;;/fC48H66N5O10.2C2H3O2.Gd/qm;2*-1;m InChIKey=VAZLWPAHMORDGR-MPNKMPCTDC MGd Xcytrin bis(acetato-kappaO){3,3'-[4,5-diethyl-16,17-bis{2-[2-(2-methoxyethoxy)ethoxy]ethoxy}-10,23-dimethyl-13,20,25,26,27-pentaazapentacyclo[20.2.1.1(3,6).1(8,11).0(14,19)]heptacosa-1,3,5,7,9,11(26),12,14,16,18,20,22(25),23-tridecaene-9,24-diyl-kappa(5)N(13),N(20),N(25),N(26),N(27)]dipropan-1-olato}gadolinium gadolinium texaphyrin http://www.ebi.ac.uk/efo/EFO_0001575 dermatologic drug A drug used to treat or prevent skin disorders or for the routine care of skin. CHEBI_50177 James Malone dermatologic agent dermatologic drugs dermatological agent http://www.ebi.ac.uk/efo/EFO_0001884 (+)-dexrazoxane (+)-(S)-4,4'-Propylenedi-2,6-piperazinedione (+)-1,2-Bis(3,5-dioxo-1-piperazinyl)propane 24584-09-6 4,4'-(2S)-propane-1,2-diyldipiperazine-2,6-dione A razoxane that has formula C11H16N4O4. C11H16N4O4 C[C@@H](CN1CC(=O)NC(=O)C1)N1CC(=O)NC(=O)C1 Dextrorazoxane InChI=1/C11H16N4O4/c1-7(15-5-10(18)13-11(19)6-15)2-14-3-8(16)12-9(17)4-14/h7H,2-6H2,1H3,(H,12,16,17)(H,13,18,19)/t7-/m0/s1/f/h12-13H InChIKey=BMKDZUISNHGIBY-QVMQBSIXDF dexrazoxano dexrazoxanum anticoagulant An agent that prevents blood clotting. CHEBI_50249 James Malone anticoagulante anticoagulants http://www.ebi.ac.uk/efo/EFO_0001885 prodrug role Helen Parkinson A compound that, on administration, must undergo chemical conversion by metabolic processes before becoming the pharmacologically active drug for which it is a prodrug. topoisomerase I inhibitor An inhibitor of bacterial enzymes of the DNA topoisomerases, Type I class that catalyze ATP-independent breakage of one of the two strands of DNA, passage of the unbroken strand through the break, and rejoining of the broken strand. These bacterial enzymes reduce the topological stress in the DNA structure by relaxing negatively, but not positively, supercoiled DNA. James Malone http://www.ebi.ac.uk/efo/EFO_0001886 topoisomerase I inhibitors cadmium sulfate 10124-36-4 20229 229 A cadmium salt that has formula CdO4S. Cadmiumsulfat CdO4S CdO4S CdSO4 InChI=1/Cd.H2O4S/c;1-5(2,3)4/h;(H2,1,2,3,4)/q+2;/p-2/fCd.O4S/qm;-2 InChIKey=QCUOBSQYDGUHHT-ICYYQYRACL Kadmiumsulfat [Cd++].[O-]S([O-])(=O)=O cadmium monosulfate cadmium sulfate cadmium sulphate cadmium(2+) sulfate sulfate de cadmium sulfato de cadmio 1,9-dideoxyforskolin (3R,4aS,5S,6S,6aS,10aS,10bR)-3-ethenyl-6-hydroxy-3,4a,7,7,10a-pentamethyl-1-oxododecahydro-1H-benzo[f]chromen-5-yl acetate (3R,4aS,5S,6S,6aS,10aS,10bR)-5-(acetyloxy)-3-ethenyldodecahydro-6-hydroxy-3,4a,7,7,10a-pentamethyl-1H-naphtho(2,1-b)pyran-1-one (3R-(3alpha,4abeta,5beta,6beta,6aalpha,10abeta,10balpha))-5-(acetyloxy)-3-ethenyldodecahydro-6-hydroxy-3,4a,7,7,10a-pentamethyl-1H-naphtho(2,1-b)pyran-1-one 7beta-acetoxy-8,13-epoxy-6beta-hydroxylabd-14-en-11-one A labdane diterpenoid that has formula C22H34O5. C22H34O5 CHEBI_50295 Ele Holloway InChI=1/C22H34O5/c1-8-20(5)12-14(24)16-21(6)11-9-10-19(3,4)17(21)15(25)18(26-13(2)23)22(16,7)27-20/h8,15-18,25H,1,9-12H2,2-7H3/t15-,16+,17-,18-,20-,21+,22-/m0/s1 InChIKey=ZKZMDXUDDJYAIB-SUCLLAFCBT James Malone [H][C@@]12[C@H](O)[C@H](OC(C)=O)[C@@]3(C)O[C@](C)(CC(=O)[C@]3([H])[C@@]1(C)CCCC2(C)C)C=C http://www.ebi.ac.uk/efo/EFO_0002484 parasympatholytic http://en.wikipedia.org/wiki/Parasympatholytic A parasympatholytic agent is a substance or activity that reduces the activity of the parasympathetic nervous system.[1] (The parasympathetic nervous system is often colloquially described as the "Feed and Breed" or "Rest and Digest" portion of the autonomic nervous system. The parasympathetic nervous system becomes strongly engaged during or after a meal and during times when the body is at rest.) The term parasympatholytic typically refers to the effect of a drug, although some poisons act to block the parasympathetic nervous system as well. Most drugs with parasympatholytic properties are anticholinergics. Helen Parkinson hemin A heme b that has formula C34H32ClFeN4O4. C34H32ClFeN4O4 CC1=C(CCC(O)=O)C2=[N]3C1=Cc1c(C)c(C=C)c4C=C5C(C)=C(C=C)C6=[N]5[Fe]3(Cl)(n14)n1c(=C6)c(C)c(CCC(O)=O)c1=C2 CHEBI_50385 Ele Holloway Haemin InChI=1/C34H34N4O4.ClH.Fe/c1-7-21-17(3)25-13-26-19(5)23(9-11-33(39)40)31(37-26)16-32-24(10-12-34(41)42)20(6)28(38-32)15-30-22(8-2)18(4)27(36-30)14-29(21)35-25;;/h7-8,13-16H,1-2,9-12H2,3-6H3,(H4,35,36,37,38,39,40,41,42);1H;/q;;+3/p-3/b25-13-,26-13-,27-14-,28-15-,29-14-,30-15-,31-16-,32-16-;;/fC34H32N4O4.Cl.Fe/h39,41H;1h;/q-2;-1;m InChIKey=BTIJJDXEELBZFS-MXZCRJNTDE James Malone chlorido(protoporphyrinato)iron(III) chloro(protoporphyrinato)iron(III) chloro[3,7,12,17-tetramethyl-8,13-divinylporphyrin-2,18-dipropanoato(2-)]iron(III) hemine http://www.ebi.ac.uk/efo/EFO_0002409 protohemin phospholipase A2 inhibitor CHEBI_50469 James Malone http://www.ebi.ac.uk/efo/EFO_0001887 phospholipase A2 inhibitors osmotic diuretic CHEBI_50504 Compound that increase urine volume by increasing the amount of osmotically active solute in the urine. It also increases the osmolarity of plasma. James Malone http://www.ebi.ac.uk/efo/EFO_0001888 sweetening agent role CHEBI_50505 James Malone Substance that sweeten food, beverages, medications, etc. http://www.ebi.ac.uk/efo/EFO_0001889 vasoconstrictor agent Drug used to cause constriction of the blood vessels. arsenic oxide Class imported / merged by efoimporter James Malone arsenic oxides http://www.ebi.ac.uk/efo/EFO_0002004 cyclooxygenase 2 inhibitor A cyclooxygenase inhibitor with specificity for cyclooxygenase 2. CHEBI_50629 COX-2 inhibitor James Malone http://www.ebi.ac.uk/efo/EFO_0001890 cyclooxygenase 1 inhibitor A cyclooxygenase inhibitor with specificity for cyclooxygenase 1. CHEBI_50630 COX-1 inhibitor James Malone http://www.ebi.ac.uk/efo/EFO_0001891 bone density conservation agent An agent that inhibits bone resorption and/or favor bone mineralization and bone regeneration. Used to heal bone fractures and to treat metabolic bone diseases. CHEBI_50646 James Malone http://www.ebi.ac.uk/efo/EFO_0001892 9-cis-retinoic acid (2E,4E,6Z,8E)-3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid (7E,9Z,11E,13E)-retinoic acid (9cis)-retinoic acid 9(Z)-Retinoic acid 9-cis-Tretinoin Alitretinoin C20H28O2 CC(\\C=C\\C1=C(C)CCCC1(C)C)=C\\C=C\\C(C)=C\\C(O)=O ChEMBL:133216 ChemIDplus:5300-03-8 CiteXplore:10684759 CiteXplore:11978340 CiteXplore:12611604 CiteXplore:12882648 CiteXplore:15217968 CiteXplore:15292987 CiteXplore:15519497 CiteXplore:16144296 CiteXplore:17019405 CiteXplore:18400206 CiteXplore:18404486 CiteXplore:19678713 CiteXplore:7670094 Class imported / merged by efoimporter DrugBank:DB00523 HMDB:HMDB02369 InChI=1S/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)/b9-6+,12-11+,15-8-,16-14+ InChIKey=SHGAZHPCJJPHSC-ZVCIMWCZSA-N KEGG COMPOUND:C15493 KEGG DRUG:D02815 LIPID MAPS:LMPR01090022 Panretin Reaxys:2057222 Wikipedia:Alitretinoin alitretinoina alitretinoine alitretinoinum mercaptopurine 1,7-dihydro-6H-purine-6-thione 6 MP 6-MP 6-Mercaptopurine 6-Thiohypoxanthine 6-Thioxopurine Beilstein:132916 C5H4N4S ChemIDplus:50-44-2 Class imported / merged by efoimporter DrugBank:DB01033 InChI=1S/C5H4N4S/c10-5-3-4(7-1-6-3)8-2-9-5/h1-2H,(H2,6,7,8,9,10) InChIKey=GLVAUDGFNGKCSF-UHFFFAOYSA-N Mercaptopurina Mercapurin Patent:US2697709 Patent:US2721866 Puri-Nethol Purinethol S=c1[nH]cnc2nc[nH]c12 mercaptopurine mercaptopurinum methimazole 1-METHYL-1,3-DIHYDRO-2H-IMIDAZOLE-2-THIONE 1-Methylimidazole-2(3H)-thione 1-methyl-1,3-dihydro-2H-imidazole-2-thione Beilstein:108646 C4H6N2S ChEMBL:521089 ChemIDplus:60-56-0 Class imported / merged by efoimporter Cn1cc[nH]c1=S Danantizol DrugBank:DB00763 Favistan InChI=1S/C4H6N2S/c1-6-3-2-5-4(6)7/h2-3H,1H3,(H,5,7) InChIKey=PMRYVIKBURPHAH-UHFFFAOYSA-N KEGG DRUG:D00401 NIST Chemistry WebBook:60-56-0 PDBeChem:MMZ Strumazol Tapazole Thacapzol USAF el-30 Wikipedia:Methimazole thiamazol thiamazole thiamazolum tiamazol folic acid reductase inhibitor CHEBI_50683 James Malone http://www.ebi.ac.uk/efo/EFO_0001893 minocycline (4S,4AS,5AR,12AS)-4,7-BIS(DIMETHYLAMINO)-3,10,12,12A-TETRAHYDROXY-1,11-DIOXO-1,4,4A,5,5A,6,11,12A-OCTAHYDROTETRACENE-2-CARBOXAMIDE (4S,4aS,5aR,12aS)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide 7-Dimethylamino-6-demethyl-6-deoxytetracycline Beilstein:3077644 C23H27N3O7 ChemIDplus:10118-90-8 Class imported / merged by efoimporter DrugBank:DB01017 InChI=1S/C23H27N3O7/c1-25(2)12-5-6-13(27)15-10(12)7-9-8-11-17(26(3)4)19(29)16(22(24)32)21(31)23(11,33)20(30)14(9)18(15)28/h5-6,9,11,17,27,29-30,33H,7-8H2,1-4H3,(H2,24,32)/t9-,11-,17-,23-/m0/s1 InChIKey=DYKFCLLONBREIL-KVUCHLLUSA-N KEGG COMPOUND:10118-90-8 KEGG COMPOUND:C07225 KEGG DRUG:D05045 LIPID MAPS:LMPK07000002 Minocycline PDBeChem:MIY Patent:US3226436 [H][C@@]12Cc3c(ccc(O)c3C(=O)C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@]1([H])C2)N(C)C minociclina minociclinum minocycline nutraceutical A product in capsule, tablet or liquid form that provide essential nutrients, such as a vitamin, an essential mineral, a protein, an herb, or similar nutritional substance. CHEBI_50733 Dietary Supplement Food Supplementation James Malone Nutritional supplement http://www.ebi.ac.uk/efo/EFO_0001894 estrogen receptor modulator A substance that possess antiestrogenic actions but can also produce estrogenic effects as well. It acts as complete or partial agonist or as antagonist. It can be either steroidal or nonsteroidal in structure. CHEBI_50739 James Malone http://www.ebi.ac.uk/efo/EFO_0001895 topoisomerase II inhibitor An inhibitor of DNA topoisomerase II, which catalyses ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands. CHEBI_50750 James Malone http://www.ebi.ac.uk/efo/EFO_0001896 inhibitor of type II topoisomerase inhibitors of type II topoisomerase topoisomerase-II inhibitors aromatase inhibitor aromatase inhibitors true estrogen receptor antagonist role An antagonist at the estrogen receptor. CHEBI_50792 James Malone estrogen receptor antagonists http://www.ebi.ac.uk/efo/EFO_0001897 norflurazon 4-chloro-5-(methylamino)-2-(alpha,alpha,alpha-trifluoro-m-tolyl)-3(2H)-pyridazinone 4-chloro-5-(methylamino)-2-[3-(trifluoromethyl)phenyl]-3(2H)-pyridazinone 4-chloro-5-(methylamino)-2-[3-(trifluoromethyl)phenyl]pyridazin-3(2H)-one A pyridazinone that has formula C12H9ClF3N3O. C12H9ClF3N3O CHEBI_50842 CNC1=C(Cl)C(=O)N(N=C1)c2cccc(c2)C(F)(F)F Ele Holloway InChI=1/C12H9ClF3N3O/c1-17-9-6-18-19(11(20)10(9)13)8-4-2-3-7(5-8)12(14,15)16/h2-6,17H,1H3 InChIKey=NVGOPFQZYCNLDU-UHFFFAOYAZ James Malone SAN 9789 Solicam Zorial http://www.ebi.ac.uk/efo/EFO_0002416 doxycycline (4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide 5-hydroxy-alpha-6-deoxytetracycline 6alpha-deoxy-5-oxytetracycline A tetracycline that has formula C22H24N2O8. C22H24N2O8 CHEBI_50845 Doxycyclin InChI=1/C22H24N2O8/c1-7-8-5-4-6-9(25)11(8)16(26)12-10(7)17(27)14-15(24(2)3)18(28)13(21(23)31)20(30)22(14,32)19(12)29/h4-7,10,14-15,17,25,27-29,32H,1-3H3,(H2,23,31)/t7-,10+,14+,15-,17-,22-/m0/s1/f/h23H2 InChIKey=JBIWCJUYHHGXTC-RFTRKGKODR Jenacyclin Supracyclin Tetracycline in which the 5beta-hydrogen is replaced by a hydroxy group, while the 6alpha-hydroxy group is replaced by hydrogen. A semi-synthetic tetracycline antibiotic, it is used to inhibit bacterial protein synthesis and treat non-gonococcal urethritis and cervicitis, exacerbations of bronchitis in patients with chronic obstructive pulmonary disease (COPD), and adult periodontitis. Vibramycin [H][C@@]12[C@@H](C)c3cccc(O)c3C(=O)C1=C(O)[C@]1(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@]1([H])[C@H]2O [H][C@@]12[C@@H](C)c3cccc(O)c3C(=O)C1=C(O)[C@]4(O)C(=O)C(C(N)=O)=C(O)[C@@H](N(C)C)[C@]4([H])[C@H]2O doxiciclina doxycycline (anhydrous) doxycyclinum http://www.ebi.ac.uk/efo/EFO_0001528 antiatherogenic agent CHEBI_50855 James Malone http://www.ebi.ac.uk/efo/EFO_0001838 azinomycin B (1S)-2-{[(1E)-1-[(3R,4R,5S)-3-(acetyloxy)-4-hydroxy-1-azabicyclo[3.1.0]hex-2-ylidene]-2-{[(1Z)-1-(hydroxymethylidene)-2-oxopropyl]amino}-2-oxoethyl]amino}-1-[(2S)-2-methyloxiran-2-yl]-2-oxoethyl 3-methoxy-5-methylnaphthalene-1-carboxylate A naphthalene that has formula C31H33N3O11. C31H33N3O11 CHEBI_50862 Ele Holloway InChI=1/C31H33N3O11/c1-14-7-6-8-18-19(14)9-17(42-5)10-20(18)30(41)45-27(31(4)13-43-31)29(40)33-23(28(39)32-21(12-35)15(2)36)24-26(44-16(3)37)25(38)22-11-34(22)24/h6-10,12,22,25-27,35,38H,11,13H2,1-5H3,(H,32,39)(H,33,40)/b21-12-,24-23+/t22-,25+,26+,27+,31-,34-/m0/s1/f/h32-33H InChIKey=QIKVYJOCQXXRSJ-CKKAGOBJDQ James Malone [H][C@@]12C[N@@H]1C(\\[C@@H](OC(C)=O)[C@@H]2O)=C(\\NC(=O)[C@@H](OC(=O)c3cc(OC)cc4c(C)cccc34)[C@]5(C)CO5)C(=O)N\\C(=C/O)C(C)=O http://www.ebi.ac.uk/efo/EFO_0002005 http://www.ebi.ac.uk/efo/EFO_0002400 insulin-sensitizing drug An agent which overcomes insulin resistance by activation of the peroxisome proliferator activated receptor gamma (PPAR-gamma). CHEBI_50864 James Malone glitazonas glitazone drug glitazones http://www.ebi.ac.uk/efo/EFO_0001839 insulin sensitizers thiazolidinediones tiazolidinedionas 3H-1,2-dithiole-3-thione 1,2-dithiol-3-thione 1,2-dithiole-3-thione A 1,2-dithiole that has formula C3H2S3. C3H2S3 CHEBI_50866 Ele Holloway InChI=1/C3H2S3/c4-3-1-2-5-6-3/h1-2H InChIKey=LZENMJMJWQSSNJ-UHFFFAOYAS S=C1SSC=C1 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002724 ciprofibrate 2-[4-(2,2-dichlorocyclopropyl)phenoxy]-2-methylpropanoic acid A ring assembly that has formula C13H14Cl2O3. C13H14Cl2O3 CC(C)(Oc1ccc(cc1)C2CC2(Cl)Cl)C(O)=O CHEBI_50867 Ele Holloway InChI=1/C13H14Cl2O3/c1-12(2,11(16)17)18-9-5-3-8(4-6-9)10-7-13(10,14)15/h3-6,10H,7H2,1-2H3,(H,16,17)/f/h16H InChIKey=KPSRODZRAIWAKH-WYUMXYHSCN James Malone ciprofibrato ciprofibratum http://www.ebi.ac.uk/efo/EFO_0002404 fludrocortisone 9-fluoro-11beta,17,21-trihydroxypregn-4-ene-3,20-dione 9ALPHA-FLUOROCORTISOL A mineralocorticoid that has formula C21H29FO5. C21H29FO5 CHEBI_50885 InChI=1/C21H29FO5/c1-18-7-5-13(24)9-12(18)3-4-15-14-6-8-20(27,17(26)11-23)19(14,2)10-16(25)21(15,18)22/h9,14-16,23,25,27H,3-8,10-11H2,1-2H3/t14-,15-,16-,18-,19-,20-,21-/m0/s1 InChIKey=AAXVEMMRQDVLJB-BULBTXNYBK [H][C@@]12CC[C@](O)(C(=O)CO)[C@@]1(C)C[C@H](O)[C@@]3(F)[C@@]2([H])CCC4=CC(=O)CC[C@]34C fludrocortisona fludrocortisonum http://www.ebi.ac.uk/efo/EFO_0001536 allergenic agent A role played by a chemical compound in the onset of allergic reaction and interacting with molecular pathways involved in allergy. CHEBI_50904 Ele Holloway James Malone alergeno allergen allergene http://www.ebi.ac.uk/efo/EFO_0002398 antiemetic A drug used to prevent nausea or vomiting. An antiemetic may act by a wide range of mechanisms: it might affect the medullary control centers (the vomiting center and the chemoreceptive trigger zone) or affect the peripheral receptors. James Malone antiemetico antiemetics http://www.ebi.ac.uk/efo/EFO_0001857 Jon Ison flucloxacillin (2S,5R,6R)-6-({[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazol-4-yl]carbonyl}amino)-3,3-dimethyl-7-oxo-4-thia-1-azabicyclo[3.2.0]heptane-2-carboxylic acid 3-(2-Chloro-6-fluorophenyl)-5-methyl-4-isoxazolylpenicillin 6beta-[3-(2-chloro-6-fluorophenyl)-5-methyl-1,2-oxazole-4-carboxamido]-2,2-dimethylpenam-3alpha-carboxylic acid Beilstein:4771988 C19H17ClFN3O5S ChemIDplus:5250-39-5 CiteXplore:12569987 DrugBank:DB00301 Floxacillin Floxapen Flucloxacillin InChI=1S/C19H17ClFN3O5S/c1-7-10(12(23-29-7)11-8(20)5-4-6-9(11)21)15(25)22-13-16(26)24-14(18(27)28)19(2,3)30-17(13)24/h4-6,13-14,17H,1-3H3,(H,22,25)(H,27,28)/t13-,14+,17-/m1/s1 InChIKey=UIOFUWFRIANQPC-JKIFEVAISA-N KEGG COMPOUND:5250-39-5 KEGG COMPOUND:C11748 KEGG DRUG:D04196 Reaxys:4771988 [H][C@]12SC(C)(C)[C@@H](N1C(=O)[C@H]2NC(=O)c1c(C)onc1-c1c(F)cccc1Cl)C(O)=O flucloxacilina flucloxacilline flucloxacillinum true dopamine agonist A drug that binds to and activates dopamine receptors. Dani Welter chemical role A role played by the molecular entity or part thereof within a chemical context. James Malone The role of a chemical to be an anti-inflammatory drug. http://purl.org/obo/owl/CHEBI#CHEBI_51086 http://www.ebi.ac.uk/efo/EFO_0001815 fluoxetine (+-)-N-methyl-3-phenyl-3-((alpha,alpha,alpha-trifluoro-p-tolyl)oxy)propylamine (+-)-N-methyl-gamma-(4-(trifluoromethyl)phenoxy)benzenepropanamine Jon Ison fluoxetine hydrochloride http://www.ebi.ac.uk/efo/EFO_0003173 Patent:DE2500110 "Patent" Beilstein:39914106 "Beilstein Registry Number" KEGG DRUG:D00326 "KEGG DRUG" DrugBank:DB00472 "DrugBank" Wikipedia:Fluoxetine "Wikipedia" (+-)-N-methyl-3-phenyl-3-((alpha,alpha,alpha-trifluoro-p-tolyl)oxy)propylamine (+-)-N-methyl-gamma-(4-(trifluoromethyl)phenoxy)benzenepropanamine ChemIDplus:54910-89-3 "CAS Registry Number" "A benzenoid aromatic compound that has formula C17H18F3NO." [] KEGG DRUG:54910-89-3 "CAS Registry Number" Patent:US4314081 "Patent" (+-)-N-methyl-gamma-(4-(trifluoromethyl)phenoxy)benzenepropanamine (+-)-N-methyl-3-phenyl-3-((alpha,alpha,alpha-trifluoro-p-tolyl)oxy)propylamine fluphenazine 1-(2-hydroxyethyl)-4-(3-(trifluoromethyl-10-phenothiazinyl)propyl)-piperazine 10-(3'-(4''-(beta-hydroxyethyl)-1''-piperazinyl)-propyl)-3-trifluoromethylphenothiazine 10-(3-(2-hydroxyethyl)piperazinopropyl)-2-(trifluoromethyl)phenothiazine 2-(4-(3-[2-(trifluoromethyl)-10H-phenothiazin-10-yl]propyl)-1-piperazinyl)ethanol 2-(4-{3-[2-(trifluoromethyl)-10H-phenothiazin-10-yl]propyl}piperazin-1-yl)ethanol 2-(trifluoromethyl)-10-(3-(1-(beta-hydroxyethyl)-4-piperazinyl)propyl)phenothiazine 4-(3-(-trifluoromethyl-10-phenothiazyl)-propyl)-1-piperazineethanol 4-(3-(2-(trifluoromethyl)-10H-phenothiazin-10-yl)propyl)-1-piperazineethanol 4-(3-(2-trifluoromethyl-10-phenothiazyl)-propyl)-1-piperazineethanol Beilstein:1189506 Beilstein:61643 C22H26F3N3OS ChEMBL:136842 ChemIDplus:69-23-8 CiteXplore:1650428 CiteXplore:5128930 Class imported / merged by efoimporter DrugBank:DB00623 Fluorfenazine Fluorophenazine Fluorphenazine Fluphenazine Gmelin:1231182 InChI=1S/C22H26F3N3OS/c23-22(24,25)17-6-7-21-19(16-17)28(18-4-1-2-5-20(18)30-21)9-3-8-26-10-12-27(13-11-26)14-15-29/h1-2,4-7,16,29H,3,8-15H2 InChIKey=PLDUPXSUYLZYBN-UHFFFAOYSA-N KEGG COMPOUND:69-23-8 KEGG COMPOUND:C07010 KEGG DRUG:D07977 NIST Chemistry WebBook:69-23-8 OCCN1CCN(CCCN2c3ccccc3Sc3ccc(cc23)C(F)(F)F)CC1 Patent:GB829246 Patent:GB833474 Patent:US3058979 Patent:US3194733 Triflumethazine Wikipedia:Fluphenazine flufenazina fluphenazine fluphenazinum flutamide 2-methyl-N-[4-nitro-3-(trifluoromethyl)phenyl]propanamide 4'-nitro-3'-trifluoromethylisobutyranilide C11H11F3N2O3 CC(C)C(=O)Nc1ccc(c(c1)C(F)(F)F)[N+]([O-])=O ChEMBL:152087 ChemIDplus:13311-84-7 ChemIDplus:2157663 Class imported / merged by efoimporter DrugBank:DB00499 Eulexin Flutamide InChI=1S/C11H11F3N2O3/c1-6(2)10(17)15-7-3-4-9(16(18)19)8(5-7)11(12,13)14/h3-6H,1-2H3,(H,15,17) InChIKey=MKXKFYHWDHIYRV-UHFFFAOYSA-N KEGG COMPOUND:13311-84-7 KEGG COMPOUND:C07653 KEGG DRUG:D00586 Niftolide Patent:DE2130450 Patent:DE2261293 Patent:US3847988 Wikipedia:Flutamide alpha,alpha,alpha-trifluoro-2-methyl-4'-nitro-m-propionotoluidide flutamida flutamide flutamidum niftolid polyamide CHEBI_51953 James Malone http://www.ebi.ac.uk/efo/EFO_0002008 chlorphenamine 1-(p-chlorophenyl)-1-(2-pyridyl)-3-N,N-dimethylpropylamine 1-(p-chlorophenyl)-1-(2-pyridyl)-3-dimethylaminopropane 2-[p-chloro-alpha-[2-(dimethylamino)ethyl]benzyl]pyridine 3-(4-chlorophenyl)-N,N-dimethyl-3-pyridin-2-ylpropan-1-amine 3-(p-chlorophenyl)-3-(2-pyridyl)-N,N-dimethylpropylamine Beilstein:87362 C16H19ClN2 CN(C)CCC(c1ccc(Cl)cc1)c1ccccn1 ChEMBL:110358 ChemIDplus:132-22-9 Chlorphenamin Chlorpheniramine Class imported / merged by efoimporter Clofeniramina Haynon InChI=1S/C16H19ClN2/c1-19(2)12-10-15(16-5-3-4-11-18-16)13-6-8-14(17)9-7-13/h3-9,11,15H,10,12H2,1-2H3 InChIKey=SOYKEARSMXGVTM-UHFFFAOYSA-N KEGG COMPOUND:132-22-9 KEGG COMPOUND:C06905 KEGG DRUG:D07398 NIST Chemistry WebBook:132-22-9 Patent:US2567245 Patent:US2676964 Patent:US2766174 SUBMITTER:DB01114 Wikipedia:Chlorpheniramine chlorophenylpyridamine chlorphenamine chlorphenaminum chlorpheniraminum clorfenamina clorfeniramina gamma-(4-chlorophenyl)-N,N-dimethyl-2-pyridinepropanamine gamma-(4-chlorophenyl)-gamma-(2-pyridyl)propyldimethylamine nilotinib 1,9-Nonanediol 1,9-Nonanediol[accessedResource: C28H22F3N7O][accessDate: 05-04-2011] 22663 4-methyl-N-[3-(4-methyl-1H-imidazol-1-yl)-5-(trifluoromethyl)phenyl]-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]benzamide 4-methyl-N-[3-(4-methyl-1H-imidazol-1-yl)-5-(trifluoromethyl)phenyl]-3-[(4-pyridin-3-ylpyrimidin-2-yl)amino]benzamide 42663 64157-10-0 AMN 107 AMN107 An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04) An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)[accessedResource: C28H22F3N7O][accessDate: 05-04-2011] An organofluorine compound that has formula C28H22F3N7O. C28H22F3N7O C28H22F3N7O Cc1cn(cn1)-c1cc(NC(=O)c2ccc(C)c(Nc3nccc(n3)-c3cccnc3)c2)cc(c1)C(F)(F)F InChI=1/C28H22F3N7O/c1-17-5-6-19(10-25(17)37-27-33-9-7-24(36-27)20-4-3-8-32-14-20)26(39)35-22-11-21(28(29,30)31)12-23(13-22)38-15-18(2)34-16-38/h3-16H,1-2H3,(H,35,39)(H,33,36,37)/f/h35,37H InChIKey=HHZIURLSWUIHRB-YESWCKIVCC nilotinibum wortmannin (1S,6bR,9aS,11R,11bR)-9a,11b-dimethyl-1-[(methyloxy)methyl]-3,6,9-trioxo-1,6,6b,7,8,9,9a,10,11,11b-decahydro-3H-furo[4,3,2-de]indeno[4,5-h]isochromen-11-yl acetate An organic heteropentacyclic compound that has formula C23H24O8 and has biological role specific, covalent inhibitor of phosphoinositide 3-kinases (PI3Ks). C23H24O8 CHEBI_52289 Ele Holloway InChI=1/C23H24O8/c1-10(24)30-13-7-22(2)12(5-6-14(22)25)16-18(13)23(3)15(9-28-4)31-21(27)11-8-29-20(17(11)23)19(16)26/h8,12-13,15H,5-7,9H2,1-4H3/t12-,13+,15+,22-,23-/m0/s1 InChIKey=QDLHCMPXEPAAMD-QAIWCSMKBP James Malone Wartmannin [H][C@@]12CCC(=O)[C@@]1(C)C[C@@H](OC(C)=O)C1=C2C(=O)c2occ3C(=O)O[C@H](COC)[C@@]1(C)c23 http://www.ebi.ac.uk/efo/EFO_0002494 N-acylethanolamine C3H6NO2R Class imported / merged by efoimporter N-acylethanolamines OCCNC([*])=O acylethanolamide acylethanolamides bortezomib 179324-69-7 40980 C19H25BN4O4 C19H25BN4O4 CC(C)C[C@@H](NC(=O)[C@@H](Cc1ccccc1)NC(=O)c1cnccn1)B(O)O D-Phenylalaninamide substituted at the amide nitrogen by a 1-(dihydroxyboranyl)-3-methylbutyl group and at N(alpha) by a pyrazin-2-ylcarbonyl group. It is a dipeptidyl boronic acid that reversibly inhibits the 26S proteasome. Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst. Human USP6 wild-type allele is located within 17p13 and is approximately 47 kb in length. This allele, which encodes ubiquitin carboxyl-terminal hydrolase 6 protein, is involved in protein binding and the cleavage of free ubiquitin chains. The USP6 gene is overexpressed in a specific osseous neoplasm termed an aneurysmal bone cyst.[accessedResource: C19H25BN4O4][accessDate: 05-04-2011] InChI=1/C19H25BN4O4/c1-13(2)10-17(20(27)28)24-18(25)15(11-14-6-4-3-5-7-14)23-19(26)16-12-21-8-9-22-16/h3-9,12-13,15,17,27-28H,10-11H2,1-2H3,(H,23,26)(H,24,25)/t15-,17-/m1/s1/f/h23-24H InChIKey=GXJABQQUPOEUTA-ASWDFQEKDB N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide N-[(1S)-1-(dihydroxyboranyl)-3-methylbutyl]-N(alpha)-(pyrazin-2-ylcarbonyl)-D-phenylalaninamide PS-341 Proto-Oncogene TRE-2 Proto-Oncogene TRE-2[accessedResource: C19H25BN4O4][accessDate: 05-04-2011] TRE-2 Gene TRE-2 Gene[accessedResource: C19H25BN4O4][accessDate: 05-04-2011] USP6 wt Allele USP6 wt Allele[accessedResource: C19H25BN4O4][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele Ubiquitin Specific Protease 6 (Tre-2 Oncogene) wt Allele[accessedResource: C19H25BN4O4][accessDate: 05-04-2011] Ubiquitin Specific Protease 6 Gene Ubiquitin Specific Protease 6 Gene[accessedResource: C19H25BN4O4][accessDate: 05-04-2011] Velcade [(1S)-3-methyl-1-({(2R)-3-phenyl-2-[(pyrazin-2-ylcarbonyl)amino]propanoyl}amino)butyl]boronic acid gemfibrozil 2,2-Dimethyl-5-(2,5-dimethylphenoxy)valeriansaeure 2,2-Dimethyl-5-(2,5-xylyloxy)valeriansaeure 2,2-Dimethyl-5-(2,5-xylyloxy)valeric acid 5-(2,5-dimethylphenoxy)-2,2-dimethylpentanoic acid Beilstein:1881200 C15H22O3 Cc1ccc(C)c(OCCCC(C)(C)C(O)=O)c1 ChEMBL:102994 ChemIDplus:25812-30-0 Class imported / merged by efoimporter DrugBank:DB01241 Gemfibrozil Gemfibrozilo InChI=1S/C15H22O3/c1-11-6-7-12(2)13(10-11)18-9-5-8-15(3,4)14(16)17/h6-7,10H,5,8-9H2,1-4H3,(H,16,17) InChIKey=HEMJJKBWTPKOJG-UHFFFAOYSA-N KEGG DRUG:25812-30-0 KEGG DRUG:D00334 Lopid Patent:DE1925423 Patent:US3674836 Patent:US4126637 Wikipedia:Gemfibrozil gemfibrozil gemfibrozilum cytochalasin D (3S,3aR,4S,6S,7E,10S,12R,13E,15R,15aR)-3-benzyl-6,12-dihydroxy-4,10,12-trimethyl-5-methylene-1,11-dioxo-2,3,3a,4,5,6,6a,9,10,11,12,15-dodecahydro-1H-cycloundeca[d]isoindol-15-yl acetate 22144-77-0 7,18-Dihydroxy-10-phenyl-5,16,18-trimethyl-(11)cytochalas-21-acetoxy-6(12),13,19-trien-17-one A mycotoxin, which is cell permeable and a potent inhibitor of actin polymerisation and DNA synthesis. C30H37NO6 Cytohalasin D InChI=1/C30H37NO6/c1-17-10-9-13-22-26(33)19(3)18(2)25-23(16-21-11-7-6-8-12-21)31-28(35)30(22,25)24(37-20(4)32)14-15-29(5,36)27(17)34/h6-9,11-15,17-18,22-26,33,36H,3,10,16H2,1-2,4-5H3,(H,31,35)/b13-9+,15-14+/t17-,18+,22?,23-,24+,25-,26+,29+,30+/m0/s1/f/h31H InChIKey=SDZRWUKZFQQKKV-YSLPTORADC Lygosporin A Zygosporin A [H][C@]12[C@H](Cc3ccccc3)NC(=O)[C@]11[C@H](OC(C)=O)\\C=C\\[C@@](C)(O)C(=O)[C@@H](C)C\\C=C\\C1[C@H](O)C(=C)[C@H]2C beta amyloid 40425 Amyloid beta (Aβ or Abeta) is a peptide of 36–43 amino acids that is processed from the Amyloid precursor protein. While it is most commonly known in association with Alzheimer's disease, it does not exist specifically to cause disease. Evidence has been found that Aβ has multiple non-disease activities.[1] http://en.wikipedia.org/wiki/Beta_amyloid naphthalene-1,5-diamine 1,5-Diaminonaphthalene 1,5-Naphthalenediamine 1,5-Naphthylenediamine 1,5-diaminonaphthalene 1,5-naphthalenediamine Beilstein:907947 C10H10N2 ChEMBL:668125 ChemIDplus:2243-62-1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H10N2/c11-9-5-1-3-7-8(9)4-2-6-10(7)12/h1-6H,11-12H2 InChIKey=KQSABULTKYLFEV-UHFFFAOYSA-N James Malone NIST Chemistry WebBook:2243-62-1 Nc1cccc2c(N)cccc12 http://www.ebi.ac.uk/efo/EFO_0002492 naphthalene-1,5-diamine 1-fluoro-2,4-dinitrobenzene 1,2,4-Fluorodinitrobenzene 2,4-DNFB 2,4-Dinitro-1-fluorobenzene 2,4-Dinitrobenzenefluoride 2,4-Dinitrofluorobenzene 2,4-Dinitrophenyl fluoride A fluorobenzene compound with two nitro substituents in the 2- and 4-positions. C6H3FN2O4 CHEBI_53049 DFB DNFB Dinitrofluorobenzene Ele Holloway FDNB Fluoro-2,4-dinitrobenzene Fluorodinitrobenzene InChI=1/C6H3FN2O4/c7-5-2-1-4(8(10)11)3-6(5)9(12)13/h1-3H InChIKey=LOTKRQAVGJMPNV-UHFFFAOYAZ Tomasz Adamusiak [O-][N+](=O)c1ccc(F)c(c1)[N+]([O-])=O http://www.ebi.ac.uk/efo/EFO_0002722 Bandrowski's base 20048-27-5 24031 44031 A quinone imine compound having amino substituents in the 2- and 5-positions and 4-aminophenyl substituents on both of the imine nitrogens. BB C18H18N6 C18H18N6 EFABP EFABP[accessedResource: C18H18N6][accessDate: 05-04-2011] Epidermal Fatty Acid-Binding Protein Epidermal Fatty Acid-Binding Protein[accessedResource: C18H18N6][accessDate: 05-04-2011] Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI) Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H18N6][accessDate: 05-04-2011] FABP5 FABP5[accessedResource: C18H18N6][accessDate: 05-04-2011] Fatty Acid Binding Protein 5 Fatty Acid Binding Protein 5[accessedResource: C18H18N6][accessDate: 05-04-2011] InChI=1/C18H18N6/c19-11-1-5-13(6-2-11)23-17-9-16(22)18(10-15(17)21)24-14-7-3-12(20)4-8-14/h1-10H,19-22H2/b23-17+,24-18+ InChIKey=KKJZEUXMWDXPAU-GJHDBBOXBG N(1),N(1)'-(2,5-diaminocyclohexa-2,5-diene-1,4-diylidene)dibenzene-1,4-diamine N1,N1'-(2,5-diaminocyclohexa-2,5-diene-1,4-diylidene)dibenzene-1,4-diamine Nc1ccc(cc1)\\N=C1/C=C(N)\\C(\\C=C/1N)=N\\c1ccc(N)cc1 PAFABP PAFABP[accessedResource: C18H18N6][accessDate: 05-04-2011] 4,5-dianilinophthalimide 5,6-bis(phenylamino)-1H-isoindole-1,3(2H)-dione C20H15N3O2 Cgp 52411 ChEMBL:102753 ChemIDplus:157168-02-0 CiteXplore:8134396 Class imported / merged by efoimporter Ele Holloway InChI=1S/C20H15N3O2/c24-19-15-11-17(21-13-7-3-1-4-8-13)18(12-16(15)20(25)23-19)22-14-9-5-2-6-10-14/h1-12,21-22H,(H,23,24,25) InChIKey=AAALVYBICLMAMA-UHFFFAOYSA-N James Malone O=C1NC(=O)c2cc(Nc3ccccc3)c(Nc3ccccc3)cc12 SUBMITTER:8134396 http://www.ebi.ac.uk/efo/EFO_0002487 8-(3-chlorostyryl) caffeine 1,3,7-trimethyl-8-(3-chlorostyryl)xanthine 8-(3-chlorostyryl)caffeine 8-CSC 8-[(E)-2-(3-chlorophenyl)ethenyl]-1,3,7-trimethyl-3,7-dihydro-1H-purine-2,6-dione C16H15ClN4O2 CHEBI_53115 CSC Caffeine substituted at its 8-position by an (E)-3-chlorostyryl group. Cn1c(\\C=C\\c2cccc(Cl)c2)nc2n(C)c(=O)n(C)c(=O)c12 Ele Holloway InChI=1/C16H15ClN4O2/c1-19-12(8-7-10-5-4-6-11(17)9-10)18-14-13(19)15(22)21(3)16(23)20(14)2/h4-9H,1-3H3/b8-7+ InChIKey=WBWFIUAVMCNYPG-BQYQJAHWBU James Malone http://www.ebi.ac.uk/efo/EFO_0002490 pristane 2,6,10,14-tetramethylpentadecane Beilstein:1720538 Bute hydrocarbon C19H40 CC(C)CCCC(C)CCCC(C)CCCC(C)C ChemIDplus:1921-70-6 CiteXplore:9574571 Class imported / merged by efoimporter InChI=1S/C19H40/c1-16(2)10-7-12-18(5)14-9-15-19(6)13-8-11-17(3)4/h16-19H,7-15H2,1-6H3 InChIKey=XOJVVFBFDXDTEG-UHFFFAOYSA-N NIST Chemistry WebBook:1921-70-6 Norphytan Norphytane Pristan polysorbate 20 A polymer composed of PEG-ylated sorbitan, where the total number of poly(ethylene glycol) units is 20 and a single terminal is capped by a dodecanoyl group. InChI=1/C26H50O10/c1-2-3-4-5-6-7-8-9-10-11-24(30)34-19-18-31-20-22(32-15-12-27)26-25(35-17-14-29)23(21-36-26)33-16-13-28/h22-23,25-29H,2-21H2,1H3 InChIKey=HMFKFHLTUCJZJO-UHFFFAOYAO Polyoxyethylene (20) sorbitan monolaurate Polyoxyethylene sorbitan monolaurate Polysorbate Tween 20 polysorbate 60 Beilstein:10149223 Beilstein:8476329 C64H124O26 ChemIDplus:9005-67-8 Class imported / merged by efoimporter KEGG DRUG:9005-67-8 KEGG DRUG:D05567 PEG-60 Sorbitan stearate Polyoxyethylene sorbitan monostearate Polysorbate Polysorbate 60 Reaxys:10149223 Reaxys:15555053 Reaxys:9319177 Reaxys:9385260 Tween 60 polisorbato polyoxyethylene (20) sorbitan monostearate polysorbate polysorbatum calcineurin CHEBI_53439 Ele Holloway Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002734 potassium dichromate ChEMBL:897985 ChemIDplus:7778-50-9 Chromium potassium oxide CiteXplore:18837732 CiteXplore:21616561 CiteXplore:7687268 CiteXplore:8566016 Class imported / merged by efoimporter Cr2K2O7 Dichromic acid dipotassium salt Dipotassium bichromate Dipotassium dichromate Dipotassium dichromium heptaoxide InChI=1S/2Cr.2K.7O/q;;2*+1;;;;;;2*-1 InChIKey=KMUONIBRACKNSN-UHFFFAOYSA-N Kaliumdichromat NIST Chemistry WebBook:7778-50-9 Potassium dichromate(VI) [K+].[K+].[O-][Cr](=O)(=O)O[Cr]([O-])(=O)=O dipotassium dichromate potassium dichromate(2-) potassium dichromate(VI) methyl cellulose (C9H16O5)n A (1->4)-beta-D-glucan compound formed by methylating cellulose through exposure to NaOH/CH3Cl. CHEBI_53448 Cellulose methylate E461 Ele Holloway InChI=1/C29H54O16/c1-30-12-15-18(33-4)21(34-5)25(38-9)28(42-15)45-20-17(14-32-3)43-29(26(39-10)23(20)36-7)44-19-16(13-31-2)41-27(40-11)24(37-8)22(19)35-6/h15-29H,12-14H2,1-11H3/t15-,16-,17-,18-,19-,20-,21+,22+,23+,24-,25-,26-,27-,28+,29+/m1/s1 InChIKey=LNAZSHAWQACDHT-XIYTZBAFBM Methylcellulosum Metilcelulosa Tomasz Adamusiak cellulose methyl ether http://www.ebi.ac.uk/efo/EFO_0002735 methylated cellulose methylcellulose N-(1-naphthyl)ethylenediamine dihydrochloride Beilstein:3707471 C12H16Cl2N2 ChEMBL:848198 ChemIDplus:1465-25-4 Class imported / merged by efoimporter Ele Holloway Gmelin:1810634 InChI=1S/C12H14N2.2ClH/c13-8-9-14-12-7-3-5-10-4-1-2-6-11(10)12;;/h1-7,14H,8-9,13H2;2*1H InChIKey=MZNYWPRCVDMOJG-UHFFFAOYSA-N Marshall's reagent N-(1-Naphthyl)ethylenediamine.2HCl N-(1-Napthyl)ethylene diamine HCl N-(1-Napthyl)ethylene diamine dihydrochloride N-(1-naphthyl)ethane-1,2-diaminium dichloride N-1-Naphthalenyl-1,2-ethanediamine dihydrochloride Tomasz Adamusiak [Cl-].[Cl-].[NH3+]CC[NH2+]c1cccc2ccccc12 http://www.ebi.ac.uk/efo/EFO_0002736 neuropeptide S CHEBI_53461 Ele Holloway Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002737 http://en.wikipedia.org/wiki/Neuropeptide_S nickel chloride hexahydrate ChemIDplus:7791-20-0 CiteXplore:11739495 CiteXplore:14734778 Cl2H12NiO6 Class imported / merged by efoimporter Gmelin:10512 InChI=1S/2ClH.Ni.6H2O/h2*1H;;6*1H2/q;;+2;;;;;;/p-2 InChIKey=LAIZPRYFQUWUBN-UHFFFAOYSA-L Nickel chloride hexahydrate Nickel dichloride hexahydrate Nickel(II) chloride, hexahydrate O.O.O.O.O.O.[Cl-].[Cl-].[Ni++] nickel chloride--water (1/6) acenocoumarol 3-(alpha-(4'-Nitrophenyl)-beta-acetylethyl)-4-hydroxycoumarin 3-(alpha-(p-Nitrophenol)-beta-acetylethyl)-4-hydroxycoumarin 3-(alpha-Acetonyl-4-nitrobenzyl)-4-hydroxycoumarin 3-(alpha-Acetonyl-p-nitrobenzyl)-4-hydroxycoumarin 3-(alpha-p-Nitrophenyl-beta-acetylethyl)-4-hydroxycoumarin 4-Hydroxy-3-(1-(4-nitrophenyl)-3-oxobutyl)-2H-1-benzopyran-2-one 4-Hydroxy-3-[1-(4-nitrophenyl)-3-oxobutyl]-2H-chromen-2-one 4-hydroxy-3-[1-(4-nitrophenyl)-3-oxobutyl]-2H-chromen-2-one Acenocoumarin Acenocumarolo Acenokumarin Beilstein:1269370 C19H15NO6 CC(=O)CC(c1ccc(cc1)[N+]([O-])=O)c1c(O)c2ccccc2oc1=O ChEMBL:17275317 ChemIDplus:152-72-7 DrugBank:152-72-7 DrugBank:DB01418 InChI=1S/C19H15NO6/c1-11(21)10-15(12-6-8-13(9-7-12)20(24)25)17-18(22)14-4-2-3-5-16(14)26-19(17)23/h2-9,15,22H,10H2,1H3 InChIKey=VABCILAOYCMVPS-UHFFFAOYSA-N KEGG DRUG:152-72-7 KEGG DRUG:D07064 NIST Chemistry WebBook:152-72-7 Nicoumalone Nicumalon Nitrophenylacetylethyl-4-hydroxycoumarine Nitrovarfarian Nitrowarfarin Patent:US2648682 acenocoumarolum true antispasmodic glucosamine 2-Amino-2-deoxy-glucose 2-amino-2-deoxyglucose C6H13NO5 Class imported / merged by efoimporter GlcN Glucosamin Glucosamine Glukosamin KEGG COMPOUND:C01811 glucosamine http://www.ebi.ac.uk/efo/EFO_0001544 glyburide 1-((p-(2-(5-chloro-o-anisamido)ethyl)phenyl)sulfonyl)-3-cyclohexylurea 1-(p-(2-(5-chloro-2-methoxybenzamido)ethyl)benzenesulfonyl)-3-cyclohexylurea 5-chloro-N-(2-(4-((((cyclohexylamino)carbonyl)amino)sulfonyl)phenyl)ethyl)-2-methoxybenzamide 5-chloro-N-(2-{4-[N-(N-cyclohexylcarbamoyl)sulfamoyl]phenyl}ethyl)-2-methoxybenzamide Beilstein:2230085 C23H28ClN3O5S COc1ccc(Cl)cc1C(=O)NCCc1ccc(cc1)S(=O)(=O)NC(=O)NC1CCCCC1 ChEMBL:105582 ChemIDplus:10238-21-8 Class imported / merged by efoimporter Diabeta DrugBank:DB01016 Glyburide Glynase InChI=1S/C23H28ClN3O5S/c1-32-21-12-9-17(24)15-20(21)22(28)25-14-13-16-7-10-19(11-8-16)33(30,31)27-23(29)26-18-5-3-2-4-6-18/h7-12,15,18H,2-6,13-14H2,1H3,(H,25,28)(H2,26,27,29) InChIKey=ZNNLBTZKUZBEKO-UHFFFAOYSA-N KEGG COMPOUND:10238-21-8 KEGG COMPOUND:C07022 KEGG DRUG:D00336 Micronase Patent:NL6603398 Patent:NL6610580 Patent:US3454635 Wikipedia:Glyburide glibenclamida glibenclamide glibenclamidum camphorsulfonic acid (7,7-dimethyl-2-oxobicyclo[2.2.1]hept-1-yl)methanesulfonic acid 10-CSA 2-Oxobornane-10-sulphonic acid Beilstein:2216194 C10H16O4S CC1(C)C2CCC1(CS(O)(=O)=O)C(=O)C2 CSA Camphersulfosaeure ChemIDplus:3144-16-9 Class imported / merged by efoimporter InChI=1S/C10H16O4S/c1-9(2)7-3-4-10(9,8(11)5-7)6-15(12,13)14/h7H,3-6H2,1-2H3,(H,12,13,14) InChIKey=MIOPJNTWMNEORI-UHFFFAOYSA-N Reychler's acid radicicol (1aR,2Z,4E,14R,15aR)-8-chloro-9,11-dihydroxy-14-methyl-1a,14,15,15a-tetrahydro-6H-oxireno[e][2]benzoxacyclotetradecine-6,12(7H)-dione C18H17ClO6 C[C@@H]1C[C@H]2O[C@@H]2\\C=C/C=C/C(=O)Cc2c(Cl)c(O)cc(O)c2C(=O)O1 ChemIDplus:12772-57-5 Class imported / merged by efoimporter InChI=1S/C18H17ClO6/c1-9-6-15-14(25-15)5-3-2-4-10(20)7-11-16(18(23)24-9)12(21)8-13(22)17(11)19/h2-5,8-9,14-15,21-22H,6-7H2,1H3/b4-2+,5-3-/t9-,14-,15-/m1/s1 InChIKey=WYZWZEOGROVVHK-GTMNPGAYSA-N Monorden PDBeChem:RDC haloperidol 1-(3-p-fluorobenzoylpropyl)-4-p-chlorophenyl-4-hydroxypiperidine 4'-fluoro-4-(4-(p-chlorophenyl)-4-hydroxypiperidinyl)butyrophenone 4'-fluoro-4-(4-hydroxy-4-(4'-chlorophenyl)piperidino)butyrophenone 4-(4-(para-chlorophenyl)-4-hydroxypiperidino)-4'-fluorobutyrophenone 4-[4-(4-chlorophenyl)-4-hydroxy-1-piperidyl]-1-(4-fluorophenyl)-butan-1-one 4-[4-(4-chlorophenyl)-4-hydroxypiperidin-1-yl]-1-(4-fluorophenyl)butan-1-one A compound composed of a central piperidine structure with hydroxy and p-chlorophenyl substituents at position 4; and an N-linked p-fluorobutyrophenone moiety. A hydroxypiperidine that has formula C21H23ClFNO2. C21H23ClFNO2 CHEBI_5613 Haldol InChI=1/C21H23ClFNO2/c22-18-7-5-17(6-8-18)21(26)11-14-24(15-12-21)13-1-2-20(25)16-3-9-19(23)10-4-16/h3-10,26H,1-2,11-15H2 InChIKey=LNEPOXFFQSENCJ-UHFFFAOYAL OC1(CCN(CCCC(=O)c2ccc(F)cc2)CC1)c1ccc(Cl)cc1 gamma-(4-(p-chlorophenyl)-4-hydroxpiperidino)-p-fluorbutyrophenone haloperidolum http://www.ebi.ac.uk/efo/EFO_0001549 halothane 1,1,1-trifluoro-2-bromo-2-chloroethane 1,1,1-trifluoro-2-chloro-2-bromoethane 1-bromo-1-chloro-2,2,2-trifluoroethane 2,2,2-trifluoro-1-chloro-1-bromoethane 2-bromo-2-chloro-1,1,1-trifluoroethane A haloalkane comprising ethane having three flouro substituents at the 1-position as well as bromo- and chloro substituents at the 2-position. A haloalkane that has formula C2HBrClF3. C2HBrClF3 CHEBI_5615 Fluothane InChI=1/C2HBrClF3/c3-1(4)2(5,6)7/h1H InChIKey=BCQZXOMGPXTTIC-UHFFFAOYAO James Malone Narcotane Phthorothanum Rhodialothan [H]C(Cl)(Br)C(F)(F)F bromochlorotrifluoroethane http://www.ebi.ac.uk/efo/EFO_0001550 hexachlorobenzene 1,2,3,4,5,6-hexachlorobenzene 118-74-1 20682 682 A chlorobenzene that has formula C6Cl6. C6 Vertebra C6 Vertebra[accessedResource: C6Cl6][accessDate: 05-04-2011] C6Cl6 C6Cl6 Clc1c(Cl)c(Cl)c(Cl)c(Cl)c1Cl HCB Hexachlorbenzol InChI=1/C6Cl6/c7-1-2(8)4(10)6(12)5(11)3(1)9 InChIKey=CKAPSXZOOQJIBF-UHFFFAOYAV The sixth of the seven cervical vertebrae. The sixth of the seven cervical vertebrae.[accessedResource: C6Cl6][accessDate: 05-04-2011] hexachlorobenzene perchlorobenzene phenyl perchloryl hydroxyzine 2-(2-{4-[(4-chlorophenyl)(phenyl)methyl]piperazin-1-yl}ethoxy)ethanol Beilstein:321392 C21H27ClN2O2 ChEMBL:177459 ChemIDplus:68-88-2 Class imported / merged by efoimporter DrugBank:DB00557 Hychotine Hydroxine Hydroxizine Hydroxizinum Hydroxycine Hydroxyzin Hydroxyzine InChI=1S/C21H27ClN2O2/c22-20-8-6-19(7-9-20)21(18-4-2-1-3-5-18)24-12-10-23(11-13-24)14-16-26-17-15-25/h1-9,21,25H,10-17H2 InChIKey=ZQDWXGKKHFNSQK-UHFFFAOYSA-N KEGG COMPOUND:68-88-2 KEGG COMPOUND:C07045 OCCOCCN1CCN(CC1)C(c1ccccc1)c1ccc(Cl)cc1 Patent:US2899436 Wikipedia:Hydroxyzine hidroxizina hydroxyzine hydroxyzinum felodipine (+-)-ethyl methyl 4-(2,3-dichlorophenyl)-1,4-dihydro-2,6-dimethyl-3,5-pyridinedicarboxylate 3-ethyl 5-methyl 4-(2,3-dichlorophenyl)-2,6-dimethyl-1,4-dihydro-3,5-pyridinedicarboxylate 4-(2,3-dichlorophenyl)-1,4-dihydro-2,6-dimethyl-3,5-pyridinedicarboxylic acid ethyl methyl ester C18H19Cl2NO4 CCOC(=O)C1=C(C)NC(C)=C(C1c1cccc(Cl)c1Cl)C(=O)OC ChEMBL:18457386 ChEMBL:505365 ChemIDplus:72509-76-3 Class imported / merged by efoimporter DrugBank:DB01023 FELODIPINE InChI=1S/C18H19Cl2NO4/c1-5-25-18(23)14-10(3)21-9(2)13(17(22)24-4)15(14)11-7-6-8-12(19)16(11)20/h6-8,15,21H,5H2,1-4H3 InChIKey=RZTAMFZIAATZDJ-UHFFFAOYSA-N KEGG DRUG:72509-76-3 KEGG DRUG:D00319 NIST Chemistry WebBook:72509-76-3 PDBeChem:225 Patent:EP7293 Patent:US4264611 Reaxys:4331472 Wikipedia:Felodipine ethyl methyl 4-(2,3-dichlorophenyl)-2,6-dimethyl-1,4-dihydropyridine-3,5-dicarboxylate felodipina felodipine felodipinum imidacloprid 1-((6-chloro-3-pyridinyl)methyl)-N-nitro-2-imidazolidinimine 1-((6-chloro-3-pyridyl)methyl)-N-nitro-2-imidazolidinimine 1-[(6-chloropyridin-3-yl)methyl]-N-nitroimidazolidin-2-imine Beilstein:5444268 C9H10ClN5O2 ChemIDplus:105827-78-9 ChemIDplus:138261-41-3 CiteXplore:11502148 CiteXplore:11673842 CiteXplore:11699773 CiteXplore:11872245 CiteXplore:12146171 CiteXplore:12720336 CiteXplore:14690387 CiteXplore:14747770 CiteXplore:15154510 CiteXplore:15212911 CiteXplore:15246549 CiteXplore:15922528 CiteXplore:16156564 CiteXplore:16160767 CiteXplore:16406588 CiteXplore:16453147 CiteXplore:16539142 CiteXplore:16690142 CiteXplore:16845714 CiteXplore:18069649 CiteXplore:18188485 CiteXplore:18190949 CiteXplore:18348816 CiteXplore:18924117 CiteXplore:18973940 CiteXplore:18977458 CiteXplore:19916392 CiteXplore:19962320 CiteXplore:22022787 CiteXplore:22083888 CiteXplore:22119037 CiteXplore:22200056 CiteXplore:22224401 CiteXplore:22228315 CiteXplore:22290795 CiteXplore:22370410 CiteXplore:22375594 CiteXplore:22375595 CiteXplore:22395200 CiteXplore:22398690 CiteXplore:22420257 CiteXplore:22447470 CiteXplore:22459587 CiteXplore:22461500 Class imported / merged by efoimporter Imidacloprid InChI=1S/C9H10ClN5O2/c10-8-2-1-7(5-12-8)6-14-4-3-11-9(14)13-15(16)17/h1-2,5H,3-4,6H2,(H,11,13) InChIKey=YWTYJOPNNQFBPC-UHFFFAOYSA-N KEGG COMPOUND:138261-41-3 KEGG COMPOUND:C11110 Patent:EP192060 Patent:US4742060 Reaxys:5444268 Wikipedia:Imidacloprid [O-][N+](=O)N=C1NCCN1Cc1ccc(Cl)nc1 (+)-catechin monohydrate (-)-catechin hydrate (2R-trans)-2-(3,4-Dihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol monohydrate Catechin hydrate http://www.ebi.ac.uk/efo/EFO_0003227 "The monohydrate of (+)-catechin." [] Catechin hydrate ChemIDplus:88191-48-4 "CAS Registry Number" CiteXplore:10651166 "PubMed citation" (2R-trans)-2-(3,4-Dihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol monohydrate Catechin hydrate (2R-trans)-2-(3,4-Dihydroxyphenyl)-3,4-dihydro-2H-1-benzopyran-3,5,7-triol monohydrate caerulein 17650-98-5 40434 5-oxo-L-prolyl-L-glutaminyl-L-a-aspartyl-O-sulfo-L-tyrosyl-L-threonylglycyl-L-tryptophyl-L-methionyl-L-a-aspartyl-L-phenylalaninamide 5-oxo-L-prolyl-L-glutaminyl-L-alpha-aspartyl-O-sulfo-L-tyrosyl-L-threonylglycyl-L-tryptophyl-L-methionyl-L-alpha-aspartyl-L-phenylalaninamide A decapeptide comprising 5-oxoprolyl, glutamyl, aspartyl, O-sulfotyrosyl, threonyl, glycyl, tryptopyl, methionyl, aspartyl and phenylalaninamide residues in sequence. Found in the skins of certain Australian amphibians, it is an analogue of the gastrointestinal peptide hormone cholecystokinin and stimulates gastric, biliary, and pancreatic secretion. It is used in cases of paralysis of the intestine (paralytic ileus) and as a diagnostic aid in pancreatic malfunction. C58 C58 Mouse C58 Mouse[accessedResource: C58H73N13O21S2][accessDate: 05-04-2011] C58H73N13O21S2 C58H73N13O21S2 C58[accessedResource: C58H73N13O21S2][accessDate: 05-04-2011] InChI=1/C58H73N13O21S2/c1-29(72)49(71-57(87)40(23-31-12-14-33(15-13-31)92-94(89,90)91)68-56(86)43(26-48(78)79)69-52(82)37(16-18-44(59)73)65-51(81)36-17-19-45(74)63-36)58(88)62-28-46(75)64-41(24-32-27-61-35-11-7-6-10-34(32)35)54(84)66-38(20-21-93-2)53(83)70-42(25-47(76)77)55(85)67-39(50(60)80)22-30-8-4-3-5-9-30/h3-15,27,29,36-43,49,61,72H,16-26,28H2,1-2H3,(H2,59,73)(H2,60,80)(H,62,88)(H,63,74)(H,64,75)(H,65,81)(H,66,84)(H,67,85)(H,68,86)(H,69,82)(H,70,83)(H,71,87)(H,76,77)(H,78,79)(H,89,90,91)/t29-,36+,37+,38+,39+,40+,41+,42+,43+,49+/m1/s1/f/h62-71,76,78,89H,59-60H2 InChIKey=YRALAIOMGQZKOW-IMKAHHCODB [H][C@](NC(=O)[C@H](Cc1ccc(OS(O)(=O)=O)cc1)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@@H]1CCC(=O)N1)([C@@H](C)O)C(=O)NCC(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)N[C@@H](CCSC)C(=O)N[C@@H](CC(O)=O)C(=O)N[C@@H](Cc1ccccc1)C(N)=O cerulein ceruletida ceruletide ceruletidum insulin CHEBI_5931 James Malone MSH:D007328 http://www.ebi.ac.uk/efo/EFO_0001673 true DNA synthesis inhibitor cyproheptadine hydrochloride 22586 4-(5H-dibenzo[a,d][7]annulen-5-ylidene)-1-methylpiperidine hydrochloride 4-(5H-dibenzo[a,d]cyclohepten-5-ylidene)-1-methylpiperidine hydrochloride 4-(5H-dibenzo[a,d]cyclohepten-5-ylidine)-methylpiperidine hydrochloride 42586 969-33-5 C21 C21H22ClN C21H22ClN C21[accessedResource: C21H22ClN][accessDate: 05-04-2011] Cl.CN1CCC(CC1)=C1c2ccccc2C=Cc2ccccc12 DC42 DC42[accessedResource: C21H22ClN][accessDate: 05-04-2011] FLJ12894 FLJ12894[accessedResource: C21H22ClN][accessDate: 05-04-2011] Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia. Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H22ClN][accessDate: 05-04-2011] IRA1 IRA1[accessedResource: C21H22ClN][accessDate: 05-04-2011] InChI=1/C21H21N.ClH/c1-22-14-12-18(13-15-22)21-19-8-4-2-6-16(19)10-11-17-7-3-5-9-20(17)21;/h2-11H,12-15H2,1H3;1H InChIKey=ZPMVNZLARAEGHB-UHFFFAOYAU TBL1XR1 wt Allele TBL1XR1 wt Allele[accessedResource: C21H22ClN][accessDate: 05-04-2011] TBLR1 TBLR1[accessedResource: C21H22ClN][accessDate: 05-04-2011] The hydrochloride salt of cyproheptadine. Note that the drug named cyproheptadine hydrochloride generally refers to cyproheptadine hydrochloride sesquihydrate. Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H22ClN][accessDate: 05-04-2011] Transducin (Beta)-Like 1X-Linked Receptor 1 Gene Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H22ClN][accessDate: 05-04-2011] anhydraous cyproheptadine hydrochloride cyproheptadine HCl cyproheptadine hydrochloride (anh.) cyproheptadine hydrochloride (anhydrous) isoflurane 1-chloro-2,2,2-trifluoroethyl difluoromethyl ether 2-chloro-2-difluoromethoxy-1,1,1-trifluoroethane Aerrane An organofluorine compound that has formula C3H2ClF5O. C3H2ClF5O CHEBI_6015 Ethane FC(F)OC(Cl)C(F)(F)F Forane Forene InChI=1/C3H2ClF5O/c4-1(3(7,8)9)10-2(5)6/h1-2H InChIKey=PIWKPBJCKXDKJR-UHFFFAOYAP James Malone http://www.ebi.ac.uk/efo/EFO_0001559 isoflurano isofluranum oxidised LDL CiteXplore:11181467 CiteXplore:11356183 CiteXplore:15583011 CiteXplore:15913955 CiteXplore:20187701 CiteXplore:2248433 Class imported / merged by efoimporter OxLDL oxidised low-density lipoprotein oxidised low-density lipoproteins oxidized LDL oxidized low-density lipoprotein oxidized low-density lipoproteins isoniazide 4-pyridinecarbohydrazide Beilstein:119374 C6H7N3O ChEMBL:104941 ChemIDplus:54-85-3 CiteXplore:18220565 CiteXplore:19183459 CiteXplore:445303 Class imported / merged by efoimporter Gmelin:82804 InChI=1S/C6H7N3O/c7-9-6(10)5-1-3-8-4-2-5/h1-4H,7H2,(H,9,10) InChIKey=QRXWMOHMRWLFEY-UHFFFAOYSA-N Isoniazid Isonicotinsaeurehydrazid KEGG COMPOUND:54-85-3 KEGG COMPOUND:C07054 NIST Chemistry WebBook:54-85-3 NNC(=O)c1ccncc1 Reaxys:119374 Wikipedia:Isoniazid isonicotinic acid hydrazide isonicotinic hydrazide isonicotinohydrazide isonicotinoylhydrazide pyridine-4-carbohydrazide pyridine-4-carboxylic acid hydrazide isotretinoin (2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid (7E,9E,11E,13Z)-retinoic acid 13-RA 13-cis-Vitamin A acid 13-cis-retinoic acid A retinoic acid that has formula C20H28O2. Accutane Amnesteem C20H28O2 CC1=C(\\C=C\\C(C)=C\\C=C\\C(C)=C/C(O)=O)C(C)(C)CCC1 CHEBI_6067 Claravis Ele Holloway InChI=1/C20H28O2/c1-15(8-6-9-16(2)14-19(21)22)11-12-18-17(3)10-7-13-20(18,4)5/h6,8-9,11-12,14H,7,10,13H2,1-5H3,(H,21,22)/b9-6+,12-11+,15-8+,16-14-/f/h21H InChIKey=SHGAZHPCJJPHSC-WWZGNHTLDJ James Malone Neovitamin A acid http://www.ebi.ac.uk/efo/EFO_0002411 isotretinoine isotretinoino isotretinoinum ivermectin ChemIDplus:70288-86-7 CiteXplore:15078277 CiteXplore:18718154 CiteXplore:21824728 CiteXplore:21831526 CiteXplore:22039801 CiteXplore:22047763 Class imported / merged by efoimporter DrugBank:DB00602 Ele Holloway Ivomec James Malone KEGG COMPOUND:70288-86-7 KEGG COMPOUND:C07970 KEGG DRUG:D00804 Mectizan Patent:US4199569 Stromectol Tomasz Adamusiak Wikipedia:Ivermectin http://www.ebi.ac.uk/efo/EFO_0003232 ivermectin ivermectine ivermectino ivermectinum lysobisphosphatidic acid BMP C10H11O12PR4 CiteXplore:10101262 CiteXplore:12008959 CiteXplore:18052935 CiteXplore:19857945 Class imported / merged by efoimporter LBPA OP(=O)(OCC(COC([*])=O)OC([*])=O)OCC(COC([*])=O)OC([*])=O bis(monoacylglycerol) hydrogen phosphate tacrolimus hydrate (-)-(3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone monohydrate (3S,4R,5S,8R,9E,12S,14S,15R,16S,18R,19R,26aS)-5,19-dihydroxy-3-{(1E)-1-[(1R,3R,4R)-4-hydroxy-3-methoxycyclohexyl]prop-1-en-2-yl}-14,16-dimethoxy-4,10,12,18-tetramethyl-8-(prop-2-en-1-yl)-5,6,8,11,12,13,14,15,16,17,18,19,24,25,26,26a-hexadecahydro-3H-15,19-epoxypyrido[2,1-c][1,4]oxazacyclotricosine-1,7,20,21(4H,23H)-tetrone--water (1/1) C44H71NO13 ChemIDplus:109581-93-3 Class imported / merged by efoimporter DrugBank:DB00864 InChI=1S/C44H69NO12.H2O/c1-10-13-31-19-25(2)18-26(3)20-37(54-8)40-38(55-9)22-28(5)44(52,57-40)41(49)42(50)45-17-12-11-14-32(45)43(51)56-39(29(6)34(47)24-35(31)48)27(4)21-30-15-16-33(46)36(23-30)53-7;/h10,19,21,26,28-34,36-40,46-47,52H,1,11-18,20,22-24H2,2-9H3;1H2/b25-19+,27-21+;/t26-,28+,29+,30-,31+,32-,33+,34-,36+,37-,38-,39+,40+,44+;/m0./s1 InChIKey=NWJQLQGQZSIBAF-MLAUYUEBSA-N KEGG DRUG:109581-93-3 KEGG DRUG:D00107 O.CO[C@@H]1C[C@@H](CC[C@H]1O)\\C=C(/C)[C@H]1OC(=O)[C@@H]2CCCCN2C(=O)C(=O)[C@]2(O)O[C@H]([C@H](C[C@@H](C)C\\C(C)=C\\[C@@H](CC=C)C(=O)C[C@H](O)[C@H]1C)OC)[C@H](C[C@H]2C)OC Prograf Protopic Reaxys:6265275 tacrolimus tacrolimus monohydrate tsukubaenolide hydrate alpha-methyl-L-dopa (S)-(-)-alpha-Methyldopa 3-Hydroxy-alpha-methyl-L-tyrosine 3-hydroxy-alpha-methyl-L-tyrosine AMD Alpha medopa Alphamethyldopa C10H13NO4 C[C@](N)(Cc1ccc(O)c(O)c1)C(O)=O ChEMBL:103730 ChemIDplus:555-30-6 CiteXplore:10576686 CiteXplore:11901210 CiteXplore:8301021 Class imported / merged by efoimporter DrugBank:DB00968 InChI=1S/C10H13NO4/c1-10(11,9(14)15)5-6-2-3-7(12)8(13)4-6/h2-4,12-13H,5,11H2,1H3,(H,14,15)/t10-/m0/s1 InChIKey=CJCSPKMFHVPWAR-JTQLQIEISA-N KEGG COMPOUND:555-30-6 KEGG COMPOUND:C07194 KEGG DRUG:D08205 L(-)-beta-(3,4-Dihydroxyphenyl)-alpha-methylalanine L-(-)-3-(3,4-Dihydroxyphenyl)-2-methylalanine L-(-)-alpha-Methyl-beta-(3,4-dihydroxyphenyl)alanine L-(alpha-Md) L-2-Amino-2-methyl-3-(3,4-dihydroxyphenyl)propionic acid L-Methyl Dopa L-alpha-Methyl-3,4-dihydroxyphenylalanine L-alpha-Methyldopa Methyl-L-dopa Methyldopa anhydrous Reaxys:2807721 Wikipedia:Methyldopa alpha-Methyl dopa alpha-Methyl-L-3,4-dihydroxyphenylalanine alpha-Methyl-beta-(3,4-dihydroxyphenyl)-L-alanine alpha-Methyldihydroxyphenylalanine alpha-Methyldopa l-3-(3,4-Dihydroxyphenyl)-2-methylalanine levo-3-(3,4-Dihydroxyphenyl)-2-methylalanine methyldopa methyldopum metildopa scopolamine methobromide (-)-(1S,3s,5R,6R,7S)-6,7-epoxy-8-methyl-3-[(S)-tropoyloxy]tropanium bromide (-)-scopolamine methobromide (-)-scopolamine methyl bromide (S)-6beta,7beta-epoxy-8-methyl-3alpha-(-)-tropoyloxy-1alphaH,5alphaH-tromanium bromide Jon Ison N-methylhyoscine bromide N-methylscopolammonium bromide http://www.ebi.ac.uk/efo/EFO_0003258 hyoscine methyl bromide methscopolamine bromide methylscopolamine bromide scopolamine methyl bromide DrugBank:DB00747 "DrugBank" (S)-6beta,7beta-epoxy-8-methyl-3alpha-(-)-tropoyloxy-1alphaH,5alphaH-tromanium bromide KEGG DRUG:155-41-9 "CAS Registry Number" (-)-scopolamine methyl bromide N-methylscopolammonium bromide KEGG DRUG:D00715 "KEGG DRUG" methscopolamine bromide (-)-(1S,3s,5R,6R,7S)-6,7-epoxy-8-methyl-3-[(S)-tropoyloxy]tropanium bromide Patent:US2753288 "Patent" methylscopolamine bromide ChemIDplus:155-41-9 "CAS Registry Number" DrugBank:DB00462 "DrugBank" (-)-scopolamine methobromide "A quaternary ammonium salt resulting from the reaction of the amino group of scopolamine with methyl bromide." [] N-methylhyoscine bromide Reaxys:8173227 "Reaxys Registry Number" scopolamine methyl bromide hyoscine methyl bromide (-)-scopolamine methyl bromide hyoscine methyl bromide scopolamine methyl bromide N-methylhyoscine bromide (-)-(1S,3s,5R,6R,7S)-6,7-epoxy-8-methyl-3-[(S)-tropoyloxy]tropanium bromide methylscopolamine bromide (S)-6beta,7beta-epoxy-8-methyl-3alpha-(-)-tropoyloxy-1alphaH,5alphaH-tromanium bromide (-)-scopolamine methobromide methscopolamine bromide N-methylscopolammonium bromide (S)-azetidine-2-carboxylic acid (2S)-azetidine-2-carboxylic acid (S)-(-)-Azetidine-2-carboxylic acid (S)-2-azetidinecarboxylic acid (S)-azetidine-2-carboxylic acid Azetidyl-2-carboxylic acid Beilstein:3648544 Beilstein:80678 C4H7NO2 ChEMBL:747228 ChemIDplus:2133-34-8 Class imported / merged by efoimporter InChI=1S/C4H7NO2/c6-4(7)3-1-2-5-3/h3,5H,1-2H2,(H,6,7)/t3-/m0/s1 InChIKey=IADUEWIQBXOCDZ-VKHMYHEASA-N KEGG COMPOUND:2133-34-8 KEGG COMPOUND:C08267 L-Azetidine 2-carboxylic acid [H][C@]1(CCN1)C(O)=O oligogalacturonide C12H18O13(C6H8O6)n CiteXplore:17200972 CiteXplore:17451747 CiteXplore:20436295 CiteXplore:21666025 CiteXplore:9193702 CiteXplore:9232905 Class imported / merged by efoimporter InChI=1S/C18H26O19/c19-1-2(20)10(13(26)27)36-17(6(1)24)35-9-4(22)7(25)18(37-12(9)15(30)31)34-8-3(21)5(23)16(32)33-11(8)14(28)29/h1-12,16-25,32H,(H,26,27)(H,28,29)(H,30,31)/t1-,2+,3+,4+,5+,6+,7+,8+,9+,10-,11-,12-,16?,17-,18-/m0/s1 InChIKey=LCLHHZYHLXDRQG-XIDBBRFWSA-N ammonium sulfate (NH4)2SO4 Jon Ison ammonium sulfate (2:1) ammonium sulphate diammonium sulfate http://www.ebi.ac.uk/efo/EFO_0003218 mascagnite sulfuric acid ammonium salt (1:2) sulfuric acid, diammonium salt mascagnite ChemIDplus:7783-20-2 "CAS Registry Number" Wikipedia:Ammonium_sulfate "Wikipedia" MetaCyc:NH42SO4 "MetaCyc" sulfuric acid ammonium salt (1:2) ammonium sulphate (NH4)2SO4 ammonium sulfate (2:1) KEGG DRUG:D08853 "KEGG DRUG" Reaxys:11343144 "Reaxys Registry Number" KEGG DRUG:7783-20-2 "CAS Registry Number" "An inorganic sulfate salt obtained by reaction of sulfuric acid with two equivalents of ammonia. A high-melting (decomposes above 280degreeC) white solid which is very soluble in water (70.6 g/100 g water at 0degreeC; 103.8 g/100 g water at 100degreeC), it is widely used as a fertilizer for alkaline soils." [] CiteXplore:20556652 "PubMed citation" diammonium sulfate sulfuric acid, diammonium salt diammonium sulfate sulfuric acid ammonium salt (1:2) ammonium sulphate sulfuric acid, diammonium salt ammonium sulfate (2:1) (NH4)2SO4 mascagnite ammonium phosphate Ammonium acid phosphate Ammonium biphosphate Ammonium diacid phosphate Ammonium dihydrogen orthophosphate Ammonium dihydrophosphate Ammonium monobasic phosphate Ammonium monophosphate Ammonium orthophosphate dihydrogen Dihydrogen ammonium phosphate Jon Ison Monoammonium acid phosphate Monoammonium dihydrogen orthophosphate Monoammonium dihydrogen phosphate Monoammonium hydrogen phosphate Monoammonium orthophosphate Monoammonium phosphate Monobasic ammonium phosphate Phosphoric acid, monoammonium salt Primary ammonium phosphate ammonium dihydrogen phosphate http://www.ebi.ac.uk/efo/EFO_0003240 monoammonium phosphate Ammonium dihydrogen orthophosphate Monoammonium acid phosphate Ammonium acid phosphate Primary ammonium phosphate Ammonium monobasic phosphate Ammonium diacid phosphate Monoammonium hydrogen phosphate monoammonium phosphate CiteXplore:18585075 "PubMed citation" Monoammonium phosphate ChemIDplus:7722-76-1 "CAS Registry Number" Phosphoric acid, monoammonium salt Monobasic ammonium phosphate Monoammonium dihydrogen orthophosphate Reaxys:11461082 "Reaxys Registry Number" CiteXplore:20338805 "PubMed citation" Ammonium orthophosphate dihydrogen Ammonium biphosphate Ammonium dihydrophosphate Ammonium monophosphate "The ammonium salt of phosphoric acid (molar ratio 1:1)." [] Dihydrogen ammonium phosphate Monoammonium dihydrogen phosphate Monoammonium orthophosphate Primary ammonium phosphate Monoammonium phosphate Dihydrogen ammonium phosphate Monoammonium orthophosphate monoammonium phosphate Ammonium monobasic phosphate Monoammonium dihydrogen orthophosphate Ammonium diacid phosphate Ammonium dihydrogen orthophosphate Monoammonium dihydrogen phosphate Ammonium biphosphate Ammonium orthophosphate dihydrogen Ammonium monophosphate Monoammonium acid phosphate Monoammonium hydrogen phosphate Monobasic ammonium phosphate Ammonium acid phosphate Ammonium dihydrophosphate Phosphoric acid, monoammonium salt ammonium nitrate Ammonium nitricum Ammonium saltpeter Ammonium(I) nitrate (1:1) Jon Ison Nitrate d'ammonium Nitrate of ammonia Nitrato amonico Nitric acid ammonium salt (1:1) Nitric acid, ammonium salt Norway saltpeter http://www.ebi.ac.uk/efo/EFO_0003185 Wikipedia:Ammonium_nitrate "Wikipedia" Reaxys:13203931 "Reaxys Registry Number" Ammonium(I) nitrate (1:1) ChemIDplus:6484-52-2 "CAS Registry Number" Ammonium nitricum Ammonium saltpeter Nitrato amonico Nitric acid, ammonium salt "The ammonium salt of nitric acid." [] Nitrate of ammonia Norway saltpeter Nitric acid ammonium salt (1:1) Nitrate d'ammonium Nitrate of ammonia Nitrate d'ammonium Nitrato amonico Ammonium nitricum Nitric acid ammonium salt (1:1) Ammonium(I) nitrate (1:1) Nitric acid, ammonium salt Ammonium saltpeter Norway saltpeter caesium chloride Cesium monochloride Jon Ison Tricesium trichloride caesium monochloride caesium(I) chloride cesium chloride cesium(I) chloride http://www.ebi.ac.uk/efo/EFO_0003181 ChemIDplus:7647-17-8 "CAS Registry Number" Cesium monochloride CiteXplore:11058836 "PubMed citation" Reaxys:3534981 "Reaxys Registry Number" NIST Chemistry WebBook:7647-17-8 "CAS Registry Number" CiteXplore:698485 "PubMed citation" Tricesium trichloride Wikipedia:Cesium_chloride "Wikipedia" cesium chloride cesium(I) chloride caesium(I) chloride caesium monochloride "The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." [] caesium(I) chloride cesium(I) chloride caesium monochloride cesium chloride Cesium monochloride Tricesium trichloride potassium nitrate ChEMBL:1158777 ChemIDplus:7757-79-1 CiteXplore:20062955 CiteXplore:21566718 CiteXplore:21770249 CiteXplore:21905227 Class imported / merged by efoimporter InChI=1S/K.NO3/c;2-1(3)4/q+1;-1 InChIKey=FGIUAXJPYTZDNR-UHFFFAOYSA-N KNO3 Kaliumnitrat Niter Nitrate of potash Nitre Nitric acid, potassium salt Reaxys:16014598 SUBMITTER:D02051 Salt peter Saltpeter Wikipedia:Potassium_nitrate [K+].[O-][N+]([O-])=O potassium nitrate saltpetre phase-transfer catalyst role labetalol 2-hydroxy-5-{1-hydroxy-2-[(1-methyl-3-phenylpropyl)amino]ethyl}benzamide 3-Carboxamido-4-hydroxy-alpha-((1-methyl-3-phenylpropylamino)methyl)benzyl alcohol 5-(1-Hydroxy-2-(1-methyl-3-phenylpropylamino)ethyl)salicylamide Beilstein:2948416 C19H24N2O3 CC(CCc1ccccc1)NCC(O)c1ccc(O)c(c1)C(N)=O ChEMBL:101785 ChemIDplus:36894-69-6 Class imported / merged by efoimporter DrugBank:DB00598 InChI=1S/C19H24N2O3/c1-13(7-8-14-5-3-2-4-6-14)21-12-18(23)15-9-10-17(22)16(11-15)19(20)24/h2-6,9-11,13,18,21-23H,7-8,12H2,1H3,(H2,20,24) InChIKey=SGUAFYQXFOLMHL-UHFFFAOYSA-N KEGG COMPOUND:C07063 Labetalol Patent:DE2032642 Patent:US4012444 Wikipedia:Labetalol labetalol labetalolum explosive role Helen Parkinson A substance capable of undergoing rapid and highly exothermic decomposition. fludarabine phosphate 2-Fluoro-ARA AMP 2-Fluoroadenine arabinoside 5'-monophosphate 2F-ara-AMP 9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate 9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate) 9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate FAMP Fludarabine 5'-monophosphate Fludarabine monophosphate Jon Ison fludarabine http://www.ebi.ac.uk/efo/EFO_0003216 CiteXplore:21736869 "PubMed citation" Reaxys:8167686 "Reaxys Registry Number" CiteXplore:21725721 "PubMed citation" CiteXplore:20514405 "PubMed citation" Fludarabine monophosphate 2-Fluoroadenine arabinoside 5'-monophosphate CiteXplore:21296675 "PubMed citation" 9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate FAMP CiteXplore:20215092 "PubMed citation" DrugBank:DB01073 "DrugBank" Wikipedia:Fludarabine "Wikipedia" CiteXplore:20686506 "PubMed citation" CiteXplore:20467451 "PubMed citation" 2-Fluoro-ARA AMP Patent:WO2010046917 "Patent" CiteXplore:19567212 "PubMed citation" 2F-ara-AMP CiteXplore:19915381 "PubMed citation" 9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate) ChemIDplus:75607-67-9 "CAS Registry Number" "A purine arabinonucleoside monophosphate having 2-fluoroadenine as the nucleobase. Antiviral agent; once incorporated into DNA, 2F-ara-ATP (its metabolite) functions as a DNA chain terminator" [] Patent:WO2010133629 "Patent" KEGG DRUG:75607-67-9 "CAS Registry Number" CiteXplore:19283354 "PubMed citation" CiteXplore:21909959 "PubMed citation" CHEBI_31616 CiteXplore:19862681 "PubMed citation" 9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate Fludarabine 5'-monophosphate KEGG DRUG:D01907 "KEGG DRUG" 9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate Fludarabine monophosphate 2F-ara-AMP FAMP 2-Fluoro-ARA AMP 9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate 9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate) 2-Fluoroadenine arabinoside 5'-monophosphate Fludarabine 5'-monophosphate mefloquine Jon Ison Racemic mefloquine [(R*,S*)-2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol [DL-erythro-alpha-2-Piperidyl-2,8-bis(trifluoromethyl)]-4-quinolinemethanol http://www.ebi.ac.uk/efo/EFO_0003288 KEGG COMPOUND:53230-10-7 "CAS Registry Number" ChemIDplus:53230-10-7 "CAS Registry Number" Wikipedia:Mefloquine "Wikipedia" CiteXplore:22233563 "PubMed citation" [(R*,S*)-2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol CiteXplore:21118921 "PubMed citation" Reaxys:5306591 "Reaxys Registry Number" CiteXplore:22246492 "PubMed citation" "A racemate composed of (+)-(11R,2'S)- and (-)-(11S,2'R)-enantiomers of mefloquine. An antimalarial agent which acts as a blood schizonticide; its mechanism of action is unknown." [] CiteXplore:22236373 "PubMed citation" CiteXplore:22223333 "PubMed citation" CiteXplore:22232280 "PubMed citation" [DL-erythro-alpha-2-Piperidyl-2,8-bis(trifluoromethyl)]-4-quinolinemethanol KEGG DRUG:D04895 "KEGG DRUG" CiteXplore:21853223 "PubMed citation" CiteXplore:22217970 "PubMed citation" DrugBank:DB00358 "DrugBank" CHEBI_6718 Racemic mefloquine CiteXplore:22245668 "PubMed citation" KEGG COMPOUND:C07633 "KEGG COMPOUND" CiteXplore:22006004 "PubMed citation" CiteXplore:21861987 "PubMed citation" [DL-erythro-alpha-2-Piperidyl-2,8-bis(trifluoromethyl)]-4-quinolinemethanol [(R*,S*)-2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol Racemic mefloquine nevirapine 11-cyclopropyl-4-methyl-5,11-dihydro-6H-dipyrido[3,2-b:2',3'-e][1,4]diazepin-6-one 11-cyclopropyl-5,11-dihydro-4-methyl-6H-dipyrido(3,2-b:2',3'-e)(1,4)diazepin-6-one C15H14N4O Cc1ccnc2N(C3CC3)c3ncccc3C(=O)Nc12 ChemIDplus:129618-40-2 CiteXplore:1712395 DrugBank:DB00238 InChI=1S/C15H14N4O/c1-9-6-8-17-14-12(9)18-15(20)11-3-2-7-16-13(11)19(14)10-4-5-10/h2-3,6-8,10H,4-5H2,1H3,(H,18,20) InChIKey=NQDJXKOVJZTUJA-UHFFFAOYSA-N KEGG COMPOUND:129618-40-2 KEGG COMPOUND:C07263 KEGG DRUG:D00435 NEV NVP Nevirapine Reaxys:4757598 Viramune Wikipedia:Nevirapine true topiramate 2,3:4,5-bis-O-(1-methylethylidene)-beta-D-fructopyranose sulfamate 2,3:4,5-di-O-isopropylidene-beta-D-fructopyranose sulfamate C12H21NO8S CC1(C)O[C@@H]2CO[C@@]3(COS(N)(=O)=O)OC(C)(C)O[C@H]3[C@@H]2O1 ChEMBL:466279 ChemIDplus:97240-79-4 CiteXplore:22233396 CiteXplore:22249827 Class imported / merged by efoimporter DrugBank:DB00273 InChI=1S/C12H21NO8S/c1-10(2)18-7-5-16-12(6-17-22(13,14)15)9(8(7)19-10)20-11(3,4)21-12/h7-9H,5-6H2,1-4H3,(H2,13,14,15)/t7-,8-,9+,12+/m1/s1 InChIKey=KJADKKWYZYXHBB-XBWDGYHZSA-N KEGG COMPOUND:97240-79-4 KEGG COMPOUND:C07502 KEGG DRUG:D00537 McN-4853 Patent:US4513006 RWJ-17021 Reaxys:5988957 TPM Topamax Topiramate Wikipedia:Topiramate tipiramate tipiramato topiramate topiramato topiramatum topotecan 9-[(dimethylamino)methyl]-10-hydroxy-(4S)-camptothecin Jon Ison Topotecan http://www.ebi.ac.uk/efo/EFO_0003177 KEGG COMPOUND:123948-87-8 "CAS Registry Number" "A pyranoindolizinoquinoline used as an antineoplastic agent. It is a derivative of camptothecin and works by binding to the topoisomerase I-DNA complex and preventing religation of these 328 single strand breaks." [] KEGG COMPOUND:C11158 "KEGG COMPOUND" CiteXplore:22028494 "PubMed citation" Patent:EP321122 "Patent" CiteXplore:22136714 "PubMed citation" Wikipedia:Topotecan "Wikipedia" CiteXplore:21910214 "PubMed citation" CiteXplore:22075006 "PubMed citation" KEGG DRUG:D08618 "KEGG DRUG" Reaxys:4279441 "Reaxys Registry Number" CiteXplore:20574789 "PubMed citation" CiteXplore:22190039 "PubMed citation" CiteXplore:21255983 "PubMed citation" CHEBI_9634 ChemIDplus:123948-87-8 "CAS Registry Number" CiteXplore:21352915 "PubMed citation" DrugBank:DB01030 "DrugBank" iloprost (16R,S)-methyl-18,18,19,19-tetradehydro-6a-carbaprostaglandin I2 (5E)-5-[(3aS,4R,5R,6aS)-5-hydroxy-4-[(1E,3S)-3-hydroxy-4-methyloct-1-en-6-yn-1-yl]hexahydropentalen-2(1H)-ylidene]pentanoic acid C22H32O4 ChEMBL:107494 CiteXplore:14719835 CiteXplore:15232651 CiteXplore:15241524 CiteXplore:19436672 Class imported / merged by efoimporter DrugBank:DB01088 Ele Holloway InChI=1S/C22H32O4/c1-3-4-7-15(2)20(23)11-10-18-19-13-16(8-5-6-9-22(25)26)12-17(19)14-21(18)24/h8,10-11,15,17-21,23-24H,5-7,9,12-14H2,1-2H3,(H,25,26)/b11-10+,16-8+/t15?,17-,18+,19-,20+,21+/m0/s1 InChIKey=HIFJCPQKFCZDDL-ACWOEMLNSA-N James Malone KEGG DRUG:78919-13-8 KEGG DRUG:D02721 Patent:DE2845770 Patent:US4692464 Reaxys:4329060 Tomasz Adamusiak Wikipedia:Iloprost [H][C@]1(\\C=C\\[C@@H](O)C(C)CC#CC)[C@H](O)C[C@@H]2C\\C(C[C@H]12)=C/CCCC(O)=O http://www.ebi.ac.uk/efo/EFO_0003187 iloprost iloprostum symphytine oxide (1R,7aR)-7-({[(2S,3S)-2,3-dihydroxy-2-isopropylbutanoyl]oxy}methyl)-4-oxido-2,3,5,7a-tetrahydro-1H-pyrrolizin-1-yl (2E)-2-methylbut-2-enoate C20H31NO7 ChemIDplus:72698-57-8 Class imported / merged by efoimporter Ele Holloway InChI=1S/C20H31NO7/c1-6-13(4)18(23)28-16-8-10-21(26)9-7-15(17(16)21)11-27-19(24)20(25,12(2)3)14(5)22/h6-7,12,14,16-17,22,25H,8-11H2,1-5H3/b13-6+/t14-,16+,17+,20-,21?/m0/s1 InChIKey=MTHHNSCIBYQVSB-FMYLHMKPSA-N James Malone N-oxidosymphytine Tomasz Adamusiak [H][C@@]12[C@@H](CC[N+]1([O-])CC=C2COC(=O)[C@](O)(C(C)C)[C@H](C)O)OC(=O)C(\\C)=C\\C http://www.ebi.ac.uk/efo/EFO_0003285 symphytine N-oxide artesunate 4-oxo-4-{[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano[4,3-j][1,2]benzodioxepin-10-yl]oxy}butanoic acid AS C19H28O8 ChemIDplus:182824-33-5 ChemIDplus:88495-63-0 Class imported / merged by efoimporter Ele Holloway InChI=1S/C19H28O8/c1-10-4-5-13-11(2)16(23-15(22)7-6-14(20)21)24-17-19(13)12(10)8-9-18(3,25-17)26-27-19/h10-13,16-17H,4-9H2,1-3H3,(H,20,21)/t10-,11-,12+,13+,16-,17-,18-,19-/m1/s1 InChIKey=FIHJKUPKCHIPAT-AHIGJZGOSA-N James Malone KEGG DRUG:88495-63-0 KEGG DRUG:D02482 NIST Chemistry WebBook:88495-63-0 Reaxys:6003212 Tomasz Adamusiak Wikipedia:Artesunate [H][C@@]12CC[C@@]3(C)OO[C@@]11[C@@]([H])(CC[C@H]2C)[C@@H](C)[C@H](OC(=O)CCC(O)=O)O[C@]1([H])O3 artesunate artesunato artesunatum artesunic acid butanedioic acid, 1-[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-decahydro-3,6,9-trimethyl-3,12-epoxy-12H-pyrano[4,3-j]-1,2-benzodioxepin-10-yl] ester dihydroqinghasu hemsuccinate http://www.ebi.ac.uk/efo/EFO_0003229 3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluoro-1-decanol 1,1,2,2-Tetrahydroperfluoro-1-decanol 1H,1H,2H,2H-Perfluorodecanol 2-(perfluorooctyl)ethanol 2-perfluorooctylethanol 3,3,4,4,5,5,6,6,7,7,8,8,9,9,10,10,10-heptadecafluorodecan-1-ol 8:2 FTOH 8:2 fluorotelomer alcohol C10H5F17O ChemIDplus:678-39-7 CiteXplore:18186332 CiteXplore:19879662 CiteXplore:20518507 CiteXplore:20721549 CiteXplore:20836063 CiteXplore:20836064 CiteXplore:21984479 CiteXplore:22120539 CiteXplore:22208757 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H5F17O/c11-3(12,1-2-28)4(13,14)5(15,16)6(17,18)7(19,20)8(21,22)9(23,24)10(25,26)27/h28H,1-2H2 InChIKey=JJUBFBTUBACDHW-UHFFFAOYSA-N James Malone NIST Chemistry WebBook:678-39-7 OCCC(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)C(F)(F)F Reaxys:2227487 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003313 2-butoxyethanol 2-butoxyethanol 2-hydroxyethyl n-butyl ether 3-oxa-1-heptanol BuOCH2CH2OH C6H14O2 CCCCOCCO ChEMBL:142740 ChemIDplus:111-76-2 CiteXplore:15371241 CiteXplore:15705494 CiteXplore:22330932 CiteXplore:9372852 Class imported / merged by efoimporter Ele Holloway InChI=1S/C6H14O2/c1-2-3-5-8-6-4-7/h7H,2-6H2,1H3 InChIKey=POAOYUHQDCAZBD-UHFFFAOYSA-N James Malone KEGG COMPOUND:C19355 NIST Chemistry WebBook:111-76-2 O-butyl ethylene glycol Patent:US2448767 Reaxys:1732511 Tomasz Adamusiak Wikipedia:2-Butoxyethanol butoxyethanol butyl cellosolve butyl glycol butyl oxitol ethylene glycol butyl ether ethylene glycol mono-n-butyl ether ethylene glycol monobutyl ether glycol butyl ether http://www.ebi.ac.uk/efo/EFO_0003230 n-butoxyethanol riddelliine (15Z)-12,18-dihydroxy-13,19-didehydrosenecionan-11,16-dione C18H23NO6 ChemIDplus:23246-96-0 CiteXplore:11170513 CiteXplore:12140173 CiteXplore:14580895 CiteXplore:18842697 CiteXplore:19412857 CiteXplore:1949039 CiteXplore:20078085 CiteXplore:20737008 CiteXplore:2083039 CiteXplore:21170807 CiteXplore:21822322 CiteXplore:21976715 CiteXplore:3507253 Class imported / merged by efoimporter Ele Holloway InChI=1S/C18H23NO6/c1-3-12-8-11(2)18(23,10-20)17(22)24-9-13-4-6-19-7-5-14(15(13)19)25-16(12)21/h3-4,14-15,20,23H,2,5-10H2,1H3/b12-3-/t14-,15-,18-/m1/s1 InChIKey=SVCNNZDUGWLODJ-RAYFHMIRSA-N James Malone NIST Chemistry WebBook:23246-96-0 Reaxys:1042830 Riddeliin Riddeliine Riddelline Tomasz Adamusiak Wikipedia:Riddelliine [H][C@@]12[C@H]3CCN1CC=C2COC(=O)[C@@](O)(CO)C(=C)C\\C(=C\\C)C(=O)O3 http://www.ebi.ac.uk/efo/EFO_0003281 latanoprost free acid (5Z)-7-{(1R,2R,3R,5S)-3,5-dihydroxy-2-[(3R)-3-hydroxy-5-phenylpentyl]cyclopentyl}hept-5-enoic acid 13,14-dihydro-17-phenyl-18,19,20-trinor-PGF2alpha C23H34O5 ChEMBL:231987 ChemIDplus:41639-83-2 CiteXplore:18451496 CiteXplore:19084521 CiteXplore:19289115 CiteXplore:20019365 CiteXplore:21396362 CiteXplore:21788077 CiteXplore:21791206 CiteXplore:22124989 CiteXplore:22136089 Class imported / merged by efoimporter Ele Holloway InChI=1S/C23H34O5/c24-18(13-12-17-8-4-3-5-9-17)14-15-20-19(21(25)16-22(20)26)10-6-1-2-7-11-23(27)28/h1,3-6,8-9,18-22,24-26H,2,7,10-16H2,(H,27,28)/b6-1-/t18-,19+,20+,21-,22+/m0/s1 InChIKey=HNPFPERDNWXAGS-NFVOFSAMSA-N James Malone O[C@H](CC[C@H]1[C@H](O)C[C@H](O)[C@@H]1C\\C=C/CCCC(O)=O)CCc1ccccc1 Phxa 85 Reaxys:5911495 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003270 latanoprost acid cinidon ethyl C19H17Cl2NO4 CCOC(=O)C(\\Cl)=C\\c1cc(ccc1Cl)N1C(=O)C2=C(CCCC2)C1=O ChemIDplus:132057-06-8 ChemIDplus:142891-20-1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C19H17Cl2NO4/c1-2-26-19(25)16(21)10-11-9-12(7-8-15(11)20)22-17(23)13-5-3-4-6-14(13)18(22)24/h7-10H,2-6H2,1H3/b16-10- InChIKey=NNKKTZOEKDFTBU-YBEGLDIGSA-N James Malone Patent:DE3603789 Patent:US5062884 Reaxys:8446817 Tomasz Adamusiak cinidon-ethyl ethyl (2Z)-2-chloro-3-[2-chloro-5-(1,3-dioxo-1,3,4,5,6,7-hexahydro-2H-isoindol-2-yl)phenyl]acrylate ethyl (2Z)-2-chloro-3-[2-chloro-5-(1,3-dioxo-1,3,4,5,6,7-hexahydro-2H-isoindol-2-yl)phenyl]prop-2-enoate http://www.ebi.ac.uk/efo/EFO_0003257 menadione sodium sulfonate 1,2,3,4-Tetrahydro-2-methyl-1,4-dioxo-2-naphthalenesulfonic acid sodium salt 2,3-Dihydro-2-methyl-1,4-naphthoquinone-2-sulfonate sodium 2-Methyl-1,4-naphthoquinone sodium bisulfite 2-Methyl-1,4-naphthoquinone sodium hydrogen sulfite 2-Methylnaphthoquinone sodium hydrogen sulfite C11H9NaO5S ChemIDplus:130-37-0 Class imported / merged by efoimporter Ele Holloway InChI=1S/C11H10O5S.Na/c1-11(17(14,15)16)6-9(12)7-4-2-3-5-8(7)10(11)13;/h2-5H,6H2,1H3,(H,14,15,16);/q;+1/p-1 InChIKey=XDPFHGWVCTXHDX-UHFFFAOYSA-M James Malone KEGG COMPOUND:130-37-0 KEGG COMPOUND:C18378 KEGG DRUG:D08177 Menachinonum natrium bisulfurosum Menadione sodium bisulfite anhydrous Menadione sodium hydrogen sulfite Menadioni natrii hydrogensulfis Menaphthone sodium bisulfite Menaphthone sodium bisulphite Natrium menadionsulfonicum Reaxys:3922400 Sodium menadione bisulfite Tomasz Adamusiak Vitamin K3 sodium bisulfite [Na+].CC1(CC(=O)c2ccccc2C1=O)S([O-])(=O)=O bisulfite sodique de menadione bisulfito sodico de menadiona http://www.ebi.ac.uk/efo/EFO_0003256 menadione sodium bisulfite menadioni natrii bisulfis sodium 2-methyl-1,4-dioxo-1,2,3,4-tetrahydronaphthalene-2-sulfonate sodium dihydromenadione-2-sulfonate Aroclor 1254 *c1c(*)c(*)c(c(*)c1*)-c1c(*)c(*)c(*)c(*)c1* C12 ChemIDplus:11097-69-1 Chlorierte biphenyle, chlorgehalt 54% Chlorodiphenyl (54% Chlorine) CiteXplore:19486918 CiteXplore:19772856 CiteXplore:19945719 CiteXplore:21476350 CiteXplore:21613298 CiteXplore:21664404 CiteXplore:21748531 CiteXplore:21856390 CiteXplore:21937113 CiteXplore:22013134 CiteXplore:22044768 CiteXplore:22082211 CiteXplore:22094459 CiteXplore:22298839 Class imported / merged by efoimporter Diphenyle chlore, 54% de chlore Ele Holloway James Malone Polychlorobiphenyls (54% chlorine) Reaxys:8188376 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003329 bathocuproine disulfonic acid 4,4'-(2,9-dimethyl-1,10-phenanthroline-4,7-diyl)dibenzenesulfonic acid Bathocuproine disulfonate Bathocuproine sulfonate Bathocuproinedisulphonic acid C26H20N2O6S2 Cc1cc(-c2ccc(cc2)S(O)(=O)=O)c2ccc3c(cc(C)nc3c2n1)-c1ccc(cc1)S(O)(=O)=O ChemIDplus:73348-75-1 CiteXplore:17961528 CiteXplore:18294460 CiteXplore:18991386 CiteXplore:19345716 CiteXplore:19551996 CiteXplore:19888908 CiteXplore:21084060 CiteXplore:21258123 CiteXplore:22077885 CiteXplore:4018232 Class imported / merged by efoimporter Ele Holloway InChI=1S/C26H20N2O6S2/c1-15-13-23(17-3-7-19(8-4-17)35(29,30)31)21-11-12-22-24(14-16(2)28-26(22)25(21)27-15)18-5-9-20(10-6-18)36(32,33)34/h3-14H,1-2H3,(H,29,30,31)(H,32,33,34) InChIKey=FBKZHCDISZZXDK-UHFFFAOYSA-N James Malone Reaxys:9595708 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003224 cyclazosin hydrochloride C23H28ClN5O4 Cl.[H][C@]12CCCC[C@@]1([H])N(CCN2C(=O)c1ccco1)c1nc(N)c2cc(OC)c(OC)cc2n1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C23H27N5O4.ClH/c1-30-19-12-14-15(13-20(19)31-2)25-23(26-21(14)24)28-10-9-27(16-6-3-4-7-17(16)28)22(29)18-8-5-11-32-18;/h5,8,11-13,16-17H,3-4,6-7,9-10H2,1-2H3,(H2,24,25,26);1H/t16-,17+;/m0./s1 InChIKey=SKDIDWRQDBIQBS-MCJVGQIASA-N James Malone Reaxys:10227786 Tomasz Adamusiak [(4aR,8aS)-4-(4-amino-6,7-dimethoxyquinazolin-2-yl)octahydroquinoxalin-1(2H)-yl](2-furyl)methanone hydrochloride http://www.ebi.ac.uk/efo/EFO_0003203 cadmium dichloride hemipentahydrate Cadmium chloride hydrate Cadmium chloride hydrate (1:2.5) Cadmium chloride pentahydrate Cadmium chloride, hydrate (2:5) Cd2Cl4H10O5 CdCl2.2.5H2O ChemIDplus:7790-78-5 Class imported / merged by efoimporter Ele Holloway InChI=1S/2Cd.4ClH.5H2O/h;;4*1H;5*1H2/q2*+2;;;;;;;;;/p-4 InChIKey=DZVRGWYMCGLNKJ-UHFFFAOYSA-J James Malone O.O.O.O.O.Cl[Cd]Cl.Cl[Cd]Cl Tomasz Adamusiak cadmium dichloride hydrate dichlorocadmium hydrate--water (2/5) http://www.ebi.ac.uk/efo/EFO_0003284 sodium tungstate dihydrate ChemIDplus:10213-10-2 Class imported / merged by efoimporter Ele Holloway H4Na2O6W InChI=1S/2Na.2H2O.4O.W/h;;2*1H2;;;;;/q2*+1;;;;;2*-1; InChIKey=WPZFLQRLSGVIAA-UHFFFAOYSA-N James Malone NIST Chemistry WebBook:10213-10-2 Na2WO4.2H2O O.O.[Na+].[Na+].[O-][W]([O-])(=O)=O Reaxys:13157884 Tomasz Adamusiak Tungstic acid, sodium salt, dihydrate Wikipedia:Sodium_tungstate http://www.ebi.ac.uk/efo/EFO_0003252 sodium dioxido(dioxo)tungsten--water (1/2) sodium orthotungstate dihydrate sodium tungstate(VI) dihydrate sodium tungstate Class imported / merged by efoimporter InChI=1S/2Na.4O.W/q2*+1;;;2*-1; InChIKey=XMVONEAAOPAGAO-UHFFFAOYSA-N [Na+].[Na+].[O-][W]([O-])(=O)=O ferrozine monosodium salt 3-(2-Pyridyl)-5,6-bis(4-sulfophenyl)-1,2,4-triazine, monosodium salt C20H13N4NaO6S2 ChemIDplus:69898-45-9 CiteXplore:9400694 Class imported / merged by efoimporter Ele Holloway Ferrozine sodium Ferrozine sodium salt InChI=1S/C20H14N4O6S2.Na/c25-31(26,27)15-8-4-13(5-9-15)18-19(14-6-10-16(11-7-14)32(28,29)30)23-24-20(22-18)17-3-1-2-12-21-17;/h1-12H,(H,25,26,27)(H,28,29,30);/q;+1/p-1 InChIKey=ZGVNYCXXBQPDPQ-UHFFFAOYSA-M James Malone Sodium (3-(pyridin-2-yl)-1,2,4-triazine-5,6-diyl)bis(benzene-4,4'-sulphonate) Tomasz Adamusiak [H+].[Na+].[O-]S(=O)(=O)c1ccc(cc1)-c1nnc(nc1-c1ccc(cc1)S([O-])(=O)=O)-c1ccccn1 http://www.ebi.ac.uk/efo/EFO_0003247 hydrogen sodium 4,4'-[3-(pyridin-2-yl)-1,2,4-triazine-5,6-diyl]dibenzenesulfonate sodium 4-[3-pyridin-2-yl-5-(4-sulfophenyl)-1,2,4-triazin-6-yl]benzenesulfonate trimethyltin C3H10Sn ChemIDplus:1631-73-8 ChemIDplus:17272-57-0 CiteXplore:21378284 CiteXplore:21414367 CiteXplore:21672578 CiteXplore:21688048 CiteXplore:21804822 CiteXplore:21871932 CiteXplore:21979070 CiteXplore:22108043 CiteXplore:22130242 CiteXplore:22245015 CiteXplore:22309794 Class imported / merged by efoimporter Ele Holloway HSnMe3 InChI=1S/3CH3.Sn.H/h3*1H3;; InChIKey=UKHQRARQNZOXRL-UHFFFAOYSA-N James Malone Me3SnH NIST Chemistry WebBook:1631-73-8 NIST Chemistry WebBook:17272-57-0 Reaxys:4123006 Tomasz Adamusiak [H][Sn](C)(C)C http://www.ebi.ac.uk/efo/EFO_0003201 trimethylstannane trimethyltin hydride 2,3-bis(4-hydroxyphenyl)propionitrile 2,3-bis(4-hydroxyphenyl)-propionitrile 2,3-bis(4-hydroxyphenyl)propanenitrile 2,3-bis(p-hydroxyphenyl)propionitrile C15H13NO2 ChEMBL:323042 ChemIDplus:1428-67-7 CiteXplore:21268084 CiteXplore:21397017 CiteXplore:21636213 CiteXplore:21712365 Class imported / merged by efoimporter Ele Holloway InChI=1S/C15H13NO2/c16-10-13(12-3-7-15(18)8-4-12)9-11-1-5-14(17)6-2-11/h1-8,13,17-18H,9H2 InChIKey=GHZHWDWADLAOIQ-UHFFFAOYSA-N James Malone Oc1ccc(CC(C#N)c2ccc(O)cc2)cc1 Reaxys:3337109 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003235 arsenic trichloride Arsenic butter Arsenic chloride Arsenic(III) chloride Arsenic(III) trichloride Arsenious chloride Arsenous trichloride AsCl3 Butter of arsenic Caustic arsenic chloride Caustic oil of arsenic ChemIDplus:7784-34-1 Chlorure arsenieux Chlorure d'arsenic CiteXplore:19071824 CiteXplore:20306073 CiteXplore:4475013 CiteXplore:936786 Cl[As](Cl)Cl Class imported / merged by efoimporter Ele Holloway InChI=1S/AsCl3/c2-1(3)4 InChIKey=OEYOHULQRFXULB-UHFFFAOYSA-N James Malone NIST Chemistry WebBook:7784-34-1 Reaxys:3903069 Tomasz Adamusiak Trichloroarsine Trichlorure d'arsenic Wikipedia:Arsenic_trichloride arsenous chloride http://www.ebi.ac.uk/efo/EFO_0003186 ionomycin (4R,6S,8S,10Z,12R,14R,16E,18R,19R,20S,21S)-11,19,21-trihydroxy-22-{(2S,2'R,5S,5'S)-5'-[(1R)-1-hydroxyethyl]-2,5'-dimethyloctahydro-2,2'-bifuran-5-yl}-4,6,8,12,14,18,20-heptamethyl-9-oxodocosa-10,16-dienoic acid C41H72O9 ChEMBL:566812 ChemIDplus:56092-81-0 CiteXplore:19079959 CiteXplore:19496091 Class imported / merged by efoimporter Ele Holloway InChI=1S/C41H72O9/c1-25(21-29(5)34(43)24-35(44)30(6)22-27(3)20-26(2)14-15-38(46)47)12-11-13-28(4)39(48)31(7)36(45)23-33-16-18-41(10,49-33)37-17-19-40(9,50-37)32(8)42/h11,13,24-33,36-37,39,42-43,45,48H,12,14-23H2,1-10H3,(H,46,47)/b13-11+,34-24-/t25-,26-,27+,28-,29-,30+,31+,32-,33+,36+,37-,39-,40+,41+/m1/s1 InChIKey=PGHMRUGBZOYCAA-ADZNBVRBSA-N James Malone Patent:US3873693 Reaxys:3642126 Tomasz Adamusiak [H][C@]1(CC[C@](C)(O1)[C@@]1([H])CC[C@](C)(O1)[C@@H](C)O)C[C@H](O)[C@H](C)[C@H](O)[C@H](C)\\C=C\\C[C@@H](C)C[C@@H](C)C(\\O)=C\\C(=O)[C@@H](C)C[C@@H](C)C[C@H](C)CCC(O)=O http://www.ebi.ac.uk/efo/EFO_0003239 isoxaben 2,6-Dimethoxy-N-(3-(1-ethyl-1-methylpropyl)-5-isoxazolyl)benzamide 2,6-dimethoxy-N-[3-(3-methylpentan-3-yl)-1,2-oxazol-5-yl]benzamide C18H24N2O4 CCC(C)(CC)c1cc(NC(=O)c2c(OC)cccc2OC)on1 ChemIDplus:82558-50-7 CiteXplore:18413279 CiteXplore:18485800 CiteXplore:19103453 CiteXplore:19198845 CiteXplore:19269997 CiteXplore:21421394 CiteXplore:IND44386841 Class imported / merged by efoimporter Ele Holloway InChI=1S/C18H24N2O4/c1-6-18(3,7-2)14-11-15(24-20-14)19-17(21)16-12(22-4)9-8-10-13(16)23-5/h8-11H,6-7H2,1-5H3,(H,19,21) InChIKey=PMHURSZHKKJGBM-UHFFFAOYSA-N James Malone KEGG COMPOUND:82558-50-7 KEGG COMPOUND:C18504 N-(3-(1-Ethyl-1-methylpropyl)-5-isoxazolyl)-2,6-dimethoxybenzamide NIST Chemistry WebBook:82558-50-7 Reaxys:6612136 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003182 celastrol (2R,4aS,6aS,12bR,14aS,14bR)-10-hydroxy-2,4a,6a,9,12b,14a-hexamethyl-11-oxo-1,2,3,4,4a,5,6,6a,11,12b,13,14,14a,14b-tetradecahydropicene-2-carboxylic acid 3-hydroxy-9beta,13alpha-dimethyl-2-oxo-24,25,26-trinoroleana-1(10),3,5,7-tetraen-29-oic acid C29H38O4 ChEMBL:186102 ChemIDplus:34157-83-0 CiteXplore:20934245 CiteXplore:20954803 CiteXplore:21134410 CiteXplore:21414301 CiteXplore:21425580 CiteXplore:21466843 CiteXplore:21569548 CiteXplore:21666907 CiteXplore:21850367 CiteXplore:21865725 CiteXplore:21866552 CiteXplore:22087583 CiteXplore:22206928 CiteXplore:22334592 Class imported / merged by efoimporter Ele Holloway InChI=1S/C29H38O4/c1-17-18-7-8-21-27(4,19(18)15-20(30)23(17)31)12-14-29(6)22-16-26(3,24(32)33)10-9-25(22,2)11-13-28(21,29)5/h7-8,15,22,31H,9-14,16H2,1-6H3,(H,32,33)/t22-,25-,26-,27+,28-,29+/m1/s1 InChIKey=KQJSQWZMSAGSHN-JJWQIEBTSA-N James Malone Reaxys:2194425 Tomasz Adamusiak Tripterine [H][C@@]12C[C@@](C)(CC[C@]1(C)CC[C@]1(C)C3=CC=C4C(C)=C(O)C(=O)C=C4[C@]3(C)CC[C@@]21C)C(O)=O http://www.ebi.ac.uk/efo/EFO_0003179 N(6)-acetimidoyl-L-lysine dihydrochloride (1-{[(5S)-5-ammonio-5-carboxypentyl]amino}ethylidene)ammonium dichloride C8H19Cl2N3O2 ChEMBL:1222605 Cl.Cl.CC(=N)NCCCC[C@H](N)C(O)=O Class imported / merged by efoimporter Ele Holloway InChI=1S/C8H17N3O2.2ClH/c1-6(9)11-5-3-2-4-7(10)8(12)13;;/h7H,2-5,10H2,1H3,(H2,9,11)(H,12,13);2*1H/t7-;;/m0../s1 InChIKey=OQIBCXRAFAHXMM-KLXURFKVSA-N James Malone L-N(6)-(1-iminoethyl)lysine dihydrochloride N(6)-acetimidoyl-L-lysine hydrochloride N(6)-acetimidoyllysine dihydrochloride N(6)-ethanimidoyl-L-lysine dihydrochloride Reaxys:7083584 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003277 7-chlorokynurenic acid 7-CKA 7-Cl-KYNA 7-chloro-4-hydroxy-2-carboxyquinoline 7-chloro-4-hydroxyquinoline-2-carboxylic acid C10H6ClNO3 ChEMBL:216326 ChemIDplus:18000-24-3 CiteXplore:11224142 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H6ClNO3/c11-5-1-2-6-7(3-5)12-8(10(14)15)4-9(6)13/h1-4H,(H,12,13)(H,14,15) InChIKey=UAWVRVFHMOSAPU-UHFFFAOYSA-N James Malone OC(=O)c1cc(O)c2ccc(Cl)cc2n1 Reaxys:185645 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003248 N-allyl-1-phenyl-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide 1-phenyl-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide 3-allyl-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide 3-allyl-7,8-dihydroxy-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide Br.Oc1cc2CCN(CC=C)CC(c3ccccc3)c2cc1O C19H22BrNO2 ChEMBL:805878 Class imported / merged by efoimporter Ele Holloway InChI=1S/C19H21NO2.BrH/c1-2-9-20-10-8-15-11-18(21)19(22)12-16(15)17(13-20)14-6-4-3-5-7-14;/h2-7,11-12,17,21-22H,1,8-10,13H2;1H InChIKey=JWQRAXTWDYUBFI-UHFFFAOYSA-N James Malone N-allyl-7,8-dihydroxy-1-phenyl-2,3,4,5-tetrahydro-1H-3-benzazepine hydrobromide Reaxys:8658505 SKF 77434 hydrobromide Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003328 N-methyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide 6-chloro-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide 6-chloro-7,8-dihydroxy-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine hydrobromide 6-chloro-7,8-dihydroxy-3-methyl-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide Br.CN1CCc2c(cc(O)c(O)c2Cl)C(C1)c1cccc(C)c1 C18H21BrClNO2 ChEMBL:614511 Class imported / merged by efoimporter Ele Holloway InChI=1S/C18H20ClNO2.BrH/c1-11-4-3-5-12(8-11)15-10-20(2)7-6-13-14(15)9-16(21)18(22)17(13)19;/h3-5,8-9,15,21-22H,6-7,10H2,1-2H3;1H InChIKey=FHYWNBUFNGHNCP-UHFFFAOYSA-N James Malone Reaxys:5196089 SKF 83959 hydrobromide Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003327 N-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-3-benzazepine-7,8-diol hydrobromide 3-allyl-6-chloro-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide 3-allyl-6-chloro-7,8-dihydroxy-1-(3-methylphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide 6-chloro-1-(3-methylphenyl)-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol hydrobromide 6-chloro-7,8-dihydroxy-1-(3-methylphenyl)-3-(prop-2-en-1-yl)-2,3,4,5-tetrahydro-1H-3-benzazepinium bromide Br.Cc1cccc(c1)C1CN(CCc2c1cc(O)c(O)c2Cl)CC=C C20H23BrClNO2 ChEMBL:646764 Class imported / merged by efoimporter Ele Holloway InChI=1S/C20H22ClNO2.BrH/c1-3-8-22-9-7-15-16(11-18(23)20(24)19(15)21)17(12-22)14-6-4-5-13(2)10-14;/h3-6,10-11,17,23-24H,1,7-9,12H2,2H3;1H InChIKey=CFWPKYBBXBANLU-UHFFFAOYSA-N James Malone Reaxys:5198936 SKF 83822 hydrobromide Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003326 nebivolol (1RS,1'RS)-1,1'-[(2RS,2'SR)-bis(6-fluorochroman-2-yl)]-2,2'-iminodiethanol (1RS,1'RS)-2,2'-iminobis{1-[(2RS,2'SR)-6-fluoro-3,4-dihydro-2H-chromen-2-yl]ethanol} ChemIDplus:118457-14-0 CiteXplore:17661735 CiteXplore:18078016 CiteXplore:18083889 CiteXplore:18221115 CiteXplore:18786089 CiteXplore:19443516 CiteXplore:19815121 CiteXplore:20620250 Class imported / merged by efoimporter DrugBank:DB04861 Ele Holloway James Malone KEGG DRUG:D05127 Patent:US4654362 Reaxys:4789059 Tomasz Adamusiak Wikipedia:Nebivolol dl-nebivolol http://www.ebi.ac.uk/efo/EFO_0003249 nebivolol nebivololum N-octylhomovanillamide 2-(4-hydroxy-3-methoxyphenyl)-N-octylacetamide 4-hydroxy-3-methoxy-N-octylbenzeneacetamide C17H27NO3 CCCCCCCCNC(=O)Cc1ccc(O)c(OC)c1 ChEMBL:222606 ChemIDplus:58418-73-8 CiteXplore:8410971 Class imported / merged by efoimporter Ele Holloway InChI=1S/C17H27NO3/c1-3-4-5-6-7-8-11-18-17(20)13-14-9-10-15(19)16(12-14)21-2/h9-10,12,19H,3-8,11,13H2,1-2H3,(H,18,20) InChIKey=RRCXCIBDXPXSRA-UHFFFAOYSA-N James Malone OHV Reaxys:6371275 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003262 octyl homovanillamide octylhomovanillamide 3-aminobenzamide 3-H2NC6H4CONH2 3-aminobenzamide 3-aminobenzoic acid amide C7H8N2O ChEMBL:228215 ChemIDplus:3544-24-9 CiteXplore:10751620 CiteXplore:16310113 CiteXplore:21113202 CiteXplore:21595892 CiteXplore:22266967 CiteXplore:4070550 Class imported / merged by efoimporter Ele Holloway InChI=1S/C7H8N2O/c8-6-3-1-2-5(4-6)7(9)10/h1-4H,8H2,(H2,9,10) InChIKey=GSCPDZHWVNUUFI-UHFFFAOYSA-N James Malone NC(=O)c1cccc(N)c1 NIST Chemistry WebBook:3544-24-9 Reaxys:2802373 Tomasz Adamusiak aniline-3-carboxamide http://www.ebi.ac.uk/efo/EFO_0003263 m-aminobenzamide meta-aminobenzamide isoquinoline-1,5-diol 1,5-dihydroxyisoquinoline 5-hydroxy-1(2H)-isoquinolinone C9H7NO2 ChEMBL:306035 ChemIDplus:5154-02-9 Class imported / merged by efoimporter Ele Holloway InChI=1S/C9H7NO2/c11-8-3-1-2-7-6(8)4-5-10-9(7)12/h1-5,11H,(H,10,12) InChIKey=LFUJIPVWTMGYDG-UHFFFAOYSA-N James Malone NIST Chemistry WebBook:5154-02-9 Oc1cccc2c(O)nccc12 Reaxys:128854 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003269 isoquinoline-1,5-diol amisulpride 4-Amino-N-((1-ethyl-2-pyrrolidinyl)methyl)-5-(ethylsulfonyl)-2-methoxybenzamide 4-Amino-N-((1-ethyl-2-pyrrolidinyl)methyl)-5-(ethylsulfonyl)-o-anisamide 4-amino-N-[(1-ethylpyrrolidin-2-yl)methyl]-5-(ethylsulfonyl)-2-methoxybenzamide Aminosultopride C17H27N3O4S CCN1CCCC1CNC(=O)c1cc(c(N)cc1OC)S(=O)(=O)CC ChEMBL:489011 CiteXplore:21176108 CiteXplore:21647545 CiteXplore:21663752 CiteXplore:21746752 CiteXplore:21822161 CiteXplore:21845006 CiteXplore:21852060 CiteXplore:21886905 CiteXplore:21888613 CiteXplore:21969105 CiteXplore:22035899 CiteXplore:22059694 CiteXplore:22121864 CiteXplore:22241281 CiteXplore:22250612 Class imported / merged by efoimporter DrugBank:DB06288 Ele Holloway InChI=1S/C17H27N3O4S/c1-4-20-8-6-7-12(20)11-19-17(21)13-9-16(25(22,23)5-2)14(18)10-15(13)24-3/h9-10,12H,4-8,11,18H2,1-3H3,(H,19,21) InChIKey=NTJOBXMMWNYJFB-UHFFFAOYSA-N James Malone KEGG DRUG:D07310 Patent:BE872585 Patent:US4401822 Tomasz Adamusiak Wikipedia:Amisulpride amisulprida amisulpride amisulpridum http://www.ebi.ac.uk/efo/EFO_0003220 N-desmethylclozapine 8-Chloro-11-(1-piperazinyl)-5H-dibenzo(b,e)(1,4)diazepine 8-chloro-11-(piperazin-1-yl)-5H-dibenzo[b,e][1,4]diazepine C17H17ClN4 ChEMBL:162934 ChemIDplus:6104-71-8 CiteXplore:20156258 CiteXplore:20463634 CiteXplore:21134422 CiteXplore:21658379 CiteXplore:21712711 CiteXplore:21726287 CiteXplore:21835172 CiteXplore:21855612 CiteXplore:21912901 CiteXplore:21917240 Class imported / merged by efoimporter Clc1ccc2Nc3ccccc3C(=Nc2c1)N1CCNCC1 Demethylclozapine Desmethylclozapine Ele Holloway InChI=1S/C17H17ClN4/c18-12-5-6-15-16(11-12)21-17(22-9-7-19-8-10-22)13-3-1-2-4-14(13)20-15/h1-6,11,19-20H,7-10H2 InChIKey=JNNOSTQEZICQQP-UHFFFAOYSA-N James Malone N-desmethyl clozapine NDMC Norclozapine Reaxys:762289 Tomasz Adamusiak Wikipedia:Desmethylclozapine http://www.ebi.ac.uk/efo/EFO_0003222 4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate 4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline di[(2Z)-but-2-enedioate] C25H25F3N4O8 CGS 12066B CGS 12066B dimaleate ChemIDplus:109028-10-6 Class imported / merged by efoimporter Ele Holloway InChI=1S/C17H17F3N4.2C4H4O4/c1-22-7-9-23(10-8-22)16-15-3-2-6-24(15)14-5-4-12(17(18,19)20)11-13(14)21-16;2*5-3(6)1-2-4(7)8/h2-6,11H,7-10H2,1H3;2*1-2H,(H,5,6)(H,7,8)/b;2*2-1- InChIKey=HTEVMLYDEWVIQE-SPIKMXEPSA-N James Malone Tomasz Adamusiak [H+].[H+].[H+].[H+].[O-]C(=O)\\C=C/C([O-])=O.[O-]C(=O)\\C=C/C([O-])=O.CN1CCN(CC1)c1nc2cc(ccc2n2cccc12)C(F)(F)F http://www.ebi.ac.uk/efo/EFO_0003325 3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride 3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride 3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol monohydrochloride 4-(3-chlorophenyl)-1-(2-hydroxy-3,3-diphenylpropyl)piperazin-1-ium chloride BRL 15572 hydrochloride BRL 15572 monohydrochloride C25H28Cl2N2O ChEMBL:630841 Cl.OC(CN1CCN(CC1)c1cccc(Cl)c1)C(c1ccccc1)c1ccccc1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C25H27ClN2O.ClH/c26-22-12-7-13-23(18-22)28-16-14-27(15-17-28)19-24(29)25(20-8-3-1-4-9-20)21-10-5-2-6-11-21;/h1-13,18,24-25,29H,14-17,19H2;1H InChIKey=KQGJIKWDFWLCHO-UHFFFAOYSA-N James Malone Reaxys:9024485 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003324 CGP 78608 hydrochloride (1S)-N-[(7-bromo-2,3-dioxo-1,2,3,4-tetrahydroquinoxalin-5-yl)methyl]-1-phosphonoethanaminium chloride C11H14BrClN3O5P Cl.C[C@@H](NCc1cc(Br)cc2[nH]c(=O)c(=O)[nH]c12)P(O)(O)=O Class imported / merged by efoimporter Ele Holloway InChI=1S/C11H13BrN3O5P.ClH/c1-5(21(18,19)20)13-4-6-2-7(12)3-8-9(6)15-11(17)10(16)14-8;/h2-3,5,13H,4H2,1H3,(H,14,16)(H,15,17)(H2,18,19,20);1H/t5-;/m0./s1 InChIKey=MZQQZBPMRPDKTB-JEDNCBNOSA-N James Malone Tomasz Adamusiak [(1S)-1-{[(7-bromo-2,3-dioxo-1,2,3,4-tetrahydroquinoxalin-5-yl)methyl]amino}ethyl]phosphonic acid hydrochloride http://www.ebi.ac.uk/efo/EFO_0003323 SB 224289 hydrochloride (1'-methyl-6,7-dihydro-5H-spiro[furo[2,3-f]indole-3,4'-piperidin]-5-yl)[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]methanone hydrochloride 1'-methyl-5-{[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl}-6,7-dihydro-5H-spiro[furo[2,3-f]indole-3,4'-piperidinium] chloride C32H33ClN4O3 ChEMBL:805862 CiteXplore:20306273 Cl.CN1CCC2(CC1)COc1cc3CCN(C(=O)c4ccc(cc4)-c4ccc(cc4C)-c4noc(C)n4)c3cc21 Class imported / merged by efoimporter Ele Holloway InChI=1S/C32H32N4O3.ClH/c1-20-16-25(30-33-21(2)39-34-30)8-9-26(20)22-4-6-23(7-5-22)31(37)36-13-10-24-17-29-27(18-28(24)36)32(19-38-29)11-14-35(3)15-12-32;/h4-9,16-18H,10-15,19H2,1-3H3;1H InChIKey=GKGKBZYMDILCOF-UHFFFAOYSA-N James Malone Reaxys:8248456 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003321 exendin-4 C184H282N50O60S CCC(C)[C@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CCCNC(N)=N)NC(=O)[C@@H](NC(=O)[C@H](C)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CCC(O)=O)NC(=O)[C@H](CCSC)NC(=O)[C@H](CCC(N)=O)NC(=O)[C@H](CCCCN)NC(=O)[C@H](CO)NC(=O)[C@H](CC(C)C)NC(=O)[C@H](CC(O)=O)NC(=O)[C@H](CO)NC(=O)[C@@H](NC(=O)[C@H](Cc1ccccc1)NC(=O)[C@@H](NC(=O)CNC(=O)[C@H](CCC(O)=O)NC(=O)CNC(=O)[C@@H](N)Cc1c[nH]cn1)C(C)O)C(C)O)C(C)C)C(=O)N[C@@H](CCC(O)=O)C(=O)N[C@@H](Cc1c[nH]c2ccccc12)C(=O)N[C@@H](CC(C)C)C(=O)N[C@@H](CCCCN)C(=O)N[C@@H](CC(N)=O)C(=O)NCC(=O)NCC(=O)N1CCC[C@H]1C(=O)N[C@@H](CO)C(=O)N[C@@H](CO)C(=O)NCC(=O)N[C@@H](C)C(=O)N1CCC[C@H]1C(=O)N1CCC[C@H]1C(=O)N1CCC[C@H]1C(=O)N[C@@H](CO)C(N)=O ChemIDplus:141758-74-9 CiteXplore:12364473 CiteXplore:1313797 CiteXplore:14565957 CiteXplore:16353670 CiteXplore:17053883 CiteXplore:20149450 CiteXplore:20404826 CiteXplore:22310470 CiteXplore:22334721 CiteXplore:22338110 CiteXplore:22356440 CiteXplore:22363635 CiteXplore:22384126 Class imported / merged by efoimporter Ele Holloway Ex4 Exenatide Exendin 4 Heloderma suspectum gila monster exendin-4 His-Gly-Glu-Gly-Thr-Phe-Thr-Ser-Asp-Leu-Ser-Lys-Gln-Met-Glu-Glu-Glu-Ala-Val-Arg-Leu-Phe-Ile-Glu-Trp-Leu-Lys-Asn-Gly-Gly-Pro-Ser-Ser-Gly-Ala-Pro-Pro-Pro-Ser-NH2 InChI=1S/C184H282N50O60S/c1-16-94(10)147(178(289)213-114(52-58-144(257)258)163(274)218-121(73-101-77-195-105-39-24-23-38-103(101)105)168(279)215-116(68-90(2)3)165(276)205-107(41-26-28-61-186)158(269)219-122(75-134(189)243)154(265)198-79-135(244)196-83-139(248)231-63-30-43-129(231)175(286)225-127(87-238)174(285)223-125(85-236)155(266)200-80-136(245)202-96(12)181(292)233-65-32-45-131(233)183(294)234-66-33-46-132(234)182(293)232-64-31-44-130(232)176(287)222-124(84-235)150(190)261)229-170(281)119(71-99-34-19-17-20-35-99)217-166(277)117(69-91(4)5)214-159(270)108(42-29-62-194-184(191)192)212-177(288)146(93(8)9)228-151(262)95(11)203-156(267)111(49-55-141(251)252)208-161(272)112(50-56-142(253)254)209-162(273)113(51-57-143(255)256)210-164(275)115(59-67-295-15)211-160(271)110(47-53-133(188)242)207-157(268)106(40-25-27-60-185)206-172(283)126(86-237)224-167(278)118(70-92(6)7)216-169(280)123(76-145(259)260)220-173(284)128(88-239)226-180(291)149(98(14)241)230-171(282)120(72-100-36-21-18-22-37-100)221-179(290)148(97(13)240)227-138(247)82-199-153(264)109(48-54-140(249)250)204-137(246)81-197-152(263)104(187)74-102-78-193-89-201-102/h17-24,34-39,77-78,89-98,104,106-132,146-149,195,235-241H,16,25-33,40-76,79-88,185-187H2,1-15H3,(H2,188,242)(H2,189,243)(H2,190,261)(H,193,201)(H,196,244)(H,197,263)(H,198,265)(H,199,264)(H,200,266)(H,202,245)(H,203,267)(H,204,246)(H,205,276)(H,206,283)(H,207,268)(H,208,272)(H,209,273)(H,210,275)(H,211,271)(H,212,288)(H,213,289)(H,214,270)(H,215,279)(H,216,280)(H,217,277)(H,218,274)(H,219,269)(H,220,284)(H,221,290)(H,222,287)(H,223,285)(H,224,278)(H,225,286)(H,226,291)(H,227,247)(H,228,262)(H,229,281)(H,230,282)(H,249,250)(H,251,252)(H,253,254)(H,255,256)(H,257,258)(H,259,260)(H4,191,192,194)/t94?,95-,96-,97?,98?,104-,106-,107-,108-,109-,110-,111-,112-,113-,114-,115-,116-,117-,118-,119-,120-,121-,122-,123-,124-,125-,126-,127-,128-,129-,130-,131-,132-,146-,147-,148-,149-/m0/s1 InChIKey=HTQBXNHDCUEHJF-URRANESESA-N James Malone L-histidylglycyl-L-alpha-glutamylglycyl-L-threonyl-L-phenylalanyl-L-threonyl-L-seryl-L-alpha-aspartyl-L-leucyl-L-seryl-L-lysyl-L-glutaminyl-L-methionyl-L-alpha-glutamyl-L-alpha-glutamyl-L-alpha-glutamyl-L-alanyl-L-valyl-L-arginyl-L-leucyl-L-phenylalanyl-L-isoleucyl-L-alpha-glutamyl-L-tryptophyl-L-leucyl-L-lysyl-L-asparaginylglycylglycyl-L-prolyl-L-seryl-L-serylglycyl-L-alanyl-L-prolyl-L-prolyl-L-prolyl-L-serinamide Patent:EP1908778 Reaxys:9040649 Tomasz Adamusiak Wikipedia:Exenatide http://www.ebi.ac.uk/efo/EFO_0003250 (1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydroisochromene-5,6-diol hydrochloride (1R,3S)-3-(adamantan-1-yl)-1-(aminomethyl)-3,4-dihydro-1H-isochromene-5,6-diol hydrochloride 3-(1'-Adamantyl)-1-aminomethyl-3,4-dihydro-5,6-dihydroxy-1H-2-benzopyran hydrochloride A 77636 A 77636 hydrochloride A-77636 A77636 A77636 hydrochloride C20H28ClNO3 ChEMBL:805869 ChemIDplus:145307-34-2 Cl.NC[C@@H]1O[C@@H](Cc2c(O)c(O)ccc12)C12CC3CC(CC(C3)C1)C2 Class imported / merged by efoimporter Ele Holloway InChI=1S/C20H27NO3.ClH/c21-10-17-14-1-2-16(22)19(23)15(14)6-18(24-17)20-7-11-3-12(8-20)5-13(4-11)9-20;/h1-2,11-13,17-18,22-23H,3-10,21H2;1H/t11?,12?,13?,17-,18-,20?;/m0./s1 InChIKey=BWHPNJVKFAPVOG-QYFJGNGUSA-N James Malone Reaxys:5859104 Tomasz Adamusiak [(1R,3S)-3-(adamantan-1-yl)-5,6-dihydroxy-3,4-dihydro-1H-isochromen-1-yl]methanaminium chloride http://www.ebi.ac.uk/efo/EFO_0003318 RS 39604 hydrochloride 1-(4-Amino-5-chloro-2-methoxyphenyl)-3-(1-(2-methylsulphonylamino)ethyl-4-piperidinyl)-1-propanone hydrochloride C26H37Cl2N3O6S ChEMBL:686857 ChemIDplus:168986-61-6 Cl.COc1cc(COc2cc(N)c(Cl)cc2C(=O)CCC2CCN(CCNS(C)(=O)=O)CC2)cc(OC)c1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C26H36ClN3O6S.ClH/c1-34-20-12-19(13-21(14-20)35-2)17-36-26-16-24(28)23(27)15-22(26)25(31)5-4-18-6-9-30(10-7-18)11-8-29-37(3,32)33;/h12-16,18,29H,4-11,17,28H2,1-3H3;1H InChIKey=QSMYZGMJSGUWPM-UHFFFAOYSA-N James Malone N-{2-[4-(3-{4-amino-5-chloro-2-[(3,5-dimethoxybenzyl)oxy]phenyl}-3-oxopropyl)piperidin-1-yl]ethyl}methanesulfonamide hydrochloride RS 67506 RS-67506 RS67506 Reaxys:8889150 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003315 vanoxerine dihydrochloride 1-{2-[bis(4-fluorophenyl)methoxy]ethyl}-4-(3-phenylpropyl)piperazine dihydrochloride 1-{2-[bis(4-fluorophenyl)methoxy]ethyl}-4-(3-phenylpropyl)piperazinediium dichloride C28H34Cl2F2N2O ChEMBL:646658 ChemIDplus:67469-78-7 CiteXplore:10640288 CiteXplore:10939577 CiteXplore:16014753 CiteXplore:7700571 CiteXplore:8884229 Cl.Cl.Fc1ccc(cc1)C(OCCN1CCN(CCCc2ccccc2)CC1)c1ccc(F)cc1 Class imported / merged by efoimporter Ele Holloway GBR 12909 dihydrochloride GBR12909 dihydrochloride InChI=1S/C28H32F2N2O.2ClH/c29-26-12-8-24(9-13-26)28(25-10-14-27(30)15-11-25)33-22-21-32-19-17-31(18-20-32)16-4-7-23-5-2-1-3-6-23;;/h1-3,5-6,8-15,28H,4,7,16-22H2;2*1H InChIKey=MIBSKSYCRFWIRU-UHFFFAOYSA-N James Malone Reaxys:5696321 Tomasz Adamusiak Vanoxerine hydrochloride http://www.ebi.ac.uk/efo/EFO_0003314 tert-butyl hydroperoxide 1,1-Dimethylethyl hydroperoxide 2-Hydroperoxy-2-methylpropane C4H10O2 CC(C)(C)OO ChEMBL:365419 ChemIDplus:1098280 ChemIDplus:75-91-2 CiteXplore:21418283 CiteXplore:22037478 CiteXplore:22039964 CiteXplore:22326806 CiteXplore:22337620 CiteXplore:22369679 Class imported / merged by efoimporter Dimethylethyl hydroperoxide Ele Holloway Hydroperoxyde de butyle tertiaire InChI=1S/C4H10O2/c1-4(2,3)6-5/h5H,1-3H3 InChIKey=CIHOLLKRGTVIJN-UHFFFAOYSA-N James Malone NIST Chemistry WebBook:75-91-2 Reaxys:1098280 TBHP Tertiary-butyl hydroperoxide Tomasz Adamusiak Wikipedia:Tert-Butyl_hydroperoxide http://www.ebi.ac.uk/efo/EFO_0003265 t-Butylhydroperoxide t-butyl hydroperoxide tert-Butylhydroperoxide tert-butyl hydroperoxide 1-[2-(benzhydryloxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride 1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazine dihydrochloride 1-[2-(diphenylmethoxy)ethyl]-4-(3-phenylpropyl)piperazinediium dichloride C28H36Cl2N2O ChEMBL:854648 CiteXplore:10082215 CiteXplore:11230993 CiteXplore:17141211 CiteXplore:18216287 CiteXplore:9286626 CiteXplore:9874096 Cl.Cl.C(CN1CCN(CCOC(c2ccccc2)c2ccccc2)CC1)Cc1ccccc1 Class imported / merged by efoimporter Ele Holloway GBR 12935 dihydrochloride InChI=1S/C28H34N2O.2ClH/c1-4-11-25(12-5-1)13-10-18-29-19-21-30(22-20-29)23-24-31-28(26-14-6-2-7-15-26)27-16-8-3-9-17-27;;/h1-9,11-12,14-17,28H,10,13,18-24H2;2*1H InChIKey=NQWRSILGEXNJIT-UHFFFAOYSA-N James Malone Patent:US4202896 Reaxys:5689635 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003312 N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine (2-(2',6'-Dimethoxy)phenoxyethylamino)methylbenzo-1,4-dioxane (2-(2',6'-Dimethoxy)phenoxyethylamino)methylbenzodioxan C19H23NO5 COc1cccc(OC)c1OCCNCC1COc2ccccc2O1 ChEMBL:133675 CiteXplore:18850495 CiteXplore:19041301 CiteXplore:19114413 CiteXplore:19463264 CiteXplore:19686710 CiteXplore:20450248 CiteXplore:20554480 CiteXplore:20862454 CiteXplore:21146475 CiteXplore:21219971 CiteXplore:21475142 CiteXplore:21535246 CiteXplore:22179423 CiteXplore:7901775 Class imported / merged by efoimporter Ele Holloway InChI=1S/C19H23NO5/c1-21-17-8-5-9-18(22-2)19(17)23-11-10-20-12-14-13-24-15-6-3-4-7-16(15)25-14/h3-9,14,20H,10-13H2,1-2H3 InChIKey=GYSZUJHYXCZAKI-UHFFFAOYSA-N James Malone N-(2,3-dihydro-1,4-benzodioxin-2-ylmethyl)-2-(2,6-dimethoxyphenoxy)ethanamine N-(2-(2,6-Dimethoxyphenoxy)ethyl)-2,3-dihydro-1,4-benzodioxin-2-methanamine Reaxys:4206776 Tomasz Adamusiak WB 4101 WB-4101 WB4101 http://www.ebi.ac.uk/efo/EFO_0003311 4-fluoro-N-\{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl\}benzamide hydrochloride 1-((4-Fluorobenzoylamino)ethyl)-4-(7-methoxy-1-naphthyl)piperazine hydrochloride 4-fluoro-N-{2-[4-(7-methoxynaphthalen-1-yl)piperazin-1-yl]ethyl}benzamide hydrochloride C24H27ClFN3O2 ChemIDplus:135721-98-1 CiteXplore:7698199 Cl.COc1ccc2cccc(N3CCN(CCNC(=O)c4ccc(F)cc4)CC3)c2c1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C24H26FN3O2.ClH/c1-30-21-10-7-18-3-2-4-23(22(18)17-21)28-15-13-27(14-16-28)12-11-26-24(29)19-5-8-20(25)9-6-19;/h2-10,17H,11-16H2,1H3,(H,26,29);1H InChIKey=HWLZKPKZVOLFGK-UHFFFAOYSA-N James Malone Reaxys:8374093 S 14506 S 14506 hydrochloride S 14506 monohydrochloride S-14506 S14506 hydrochloride S14506 monohydrochloride Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003307 sodium butyrate Butanoic acid, sodium salt Butanoic acid, sodium salt (1:1) Butyrate sodium Butyric acid sodium salt Butyric acid, sodium salt C4H7NaO2 ChEMBL:200479 ChemIDplus:156-54-7 CiteXplore:12840228 CiteXplore:21593570 CiteXplore:21699495 CiteXplore:21947091 CiteXplore:21984169 CiteXplore:22024383 CiteXplore:22067609 CiteXplore:22160140 CiteXplore:22228088 CiteXplore:22246241 CiteXplore:22253909 CiteXplore:22273669 CiteXplore:22288569 CiteXplore:22293191 CiteXplore:22338096 CiteXplore:22353286 CiteXplore:22381755 Class imported / merged by efoimporter Ele Holloway InChI=1S/C4H8O2.Na/c1-2-3-4(5)6;/h2-3H2,1H3,(H,5,6);/q;+1/p-1 InChIKey=MFBOGIVSZKQAPD-UHFFFAOYSA-M James Malone NIST Chemistry WebBook:156-54-7 Reaxys:3629439 Sodium n-butyrate Sodium propanecarboxylate Tomasz Adamusiak Wikipedia:Sodium_butyrate [Na+].CCCC([O-])=O http://www.ebi.ac.uk/efo/EFO_0003273 sodium butanoate sodium 8-bromo-3',5'-cyclic GMP 8-bromo cGMP sodium salt 8-bromoguanosine 3',5'-cyclic phosphate sodium 8-bromoguanosine 3',5'-cyclic phosphate sodium salt C10H10BrN5NaO7P ChEMBL:1211830 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H11BrN5O7P.Na/c11-9-13-3-6(14-10(12)15-7(3)18)16(9)8-4(17)5-2(22-8)1-21-24(19,20)23-5;/h2,4-5,8,17H,1H2,(H,19,20)(H3,12,14,15,18);/q;+1/p-1/t2-,4-,5-,8-;/m1./s1 InChIKey=ZJRFCXHKYQVNFK-YEOHUATISA-M James Malone Reaxys:8378760 Tomasz Adamusiak [Na+].Nc1nc2n([C@@H]3O[C@@H]4COP([O-])(=O)O[C@H]4[C@H]3O)c(Br)nc2c(=O)[nH]1 http://www.ebi.ac.uk/efo/EFO_0003305 sodium 8-bromoguanosine 3',5'-cyclic phosphate sodium 8-bromoguanosine 3',5'-phosphate 4,4',4''-(4-propylpyrazole-1,3,5-triyl)trisphenol 1,3,5-tris(4-hydroxyphenyl)-4-propylpyrazole 4,4',4''-(4-propyl-1H-pyrazole-1,3,5-triyl)triphenol C24H22N2O3 CCCc1c(nn(-c2ccc(O)cc2)c1-c1ccc(O)cc1)-c1ccc(O)cc1 ChEMBL:308291 Class imported / merged by efoimporter Ele Holloway InChI=1S/C24H22N2O3/c1-2-3-22-23(16-4-10-19(27)11-5-16)25-26(18-8-14-21(29)15-9-18)24(22)17-6-12-20(28)13-7-17/h4-15,27-29H,2-3H2,1H3 InChIKey=IOTXSIGGFRQYKW-UHFFFAOYSA-N James Malone Reaxys:8798122 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003300 GR 127935 hydrochloride 4-[2-methoxy-5-({[2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-yl]carbonyl}amino)phenyl]-1-methylpiperazin-1-ium chloride C29H32ClN5O3 ChEMBL:805646 Cl.COc1ccc(NC(=O)c2ccc(cc2)-c2ccc(cc2C)-c2noc(C)n2)cc1N1CCN(C)CC1 Class imported / merged by efoimporter Ele Holloway GR127935 hydrochloride InChI=1S/C29H31N5O3.ClH/c1-19-17-23(28-30-20(2)37-32-28)9-11-25(19)21-5-7-22(8-6-21)29(35)31-24-10-12-27(36-4)26(18-24)34-15-13-33(3)14-16-34;/h5-12,17-18H,13-16H2,1-4H3,(H,31,35);1H InChIKey=SRVVUYIJVBLEJI-UHFFFAOYSA-N James Malone N-[4-methoxy-3-(4-methylpiperazin-1-yl)phenyl]-2'-methyl-4'-(5-methyl-1,2,4-oxadiazol-3-yl)biphenyl-4-carboxamide hydrochloride Reaxys:8530522 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003297 (1S,2R)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride (+)-AJ 76 hydrochloride (1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-amine hydrochloride (1S,2R)-5-methoxy-1-methyl-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium chloride C15H24ClNO Cl.CCCN[C@@H]1CCc2c(OC)cccc2[C@@H]1C Class imported / merged by efoimporter Ele Holloway InChI=1S/C15H23NO.ClH/c1-4-10-16-14-9-8-13-12(11(14)2)6-5-7-15(13)17-3;/h5-7,11,14,16H,4,8-10H2,1-3H3;1H/t11-,14+;/m0./s1 InChIKey=KIRYNZFMOLYYQB-YECZQDJWSA-N James Malone Reaxys:6076657 Tomasz Adamusiak cis-(+)-5-methoxy-1-methyl-2-(propylamino)tetralin hydrochloride http://www.ebi.ac.uk/efo/EFO_0003295 (S)-(-)-sulpiride (-)-N-(((S)-1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide (-)-sulpiride (S)-(-)-5-aminosulfonyl-N-[(1-ethyl-2-pyrrolidinyl)methyl]-2-methoxybenzamide (S)-(-)-N-((1-Ethyl-2-pyrrolidinyl)methyl)-5-sulfamoyl-o-anisamide (S)-sulpiride C15H23N3O4S CCN1CCC[C@H]1CNC(=O)c1cc(ccc1OC)S(N)(=O)=O ChEMBL:104671 ChemIDplus:23672-07-3 CiteXplore:18186115 CiteXplore:19165957 CiteXplore:19452563 CiteXplore:19488984 CiteXplore:19795476 CiteXplore:20438811 CiteXplore:20656570 CiteXplore:20850200 CiteXplore:21223496 CiteXplore:21615988 Class imported / merged by efoimporter DrugBank:DB00391 Ele Holloway InChI=1S/C15H23N3O4S/c1-3-18-8-4-5-11(18)10-17-15(19)13-9-12(23(16,20)21)6-7-14(13)22-2/h6-7,9,11H,3-5,8,10H2,1-2H3,(H,17,19)(H2,16,20,21)/t11-/m0/s1 InChIKey=BGRJTUBHPOOWDU-NSHDSACASA-N James Malone KEGG DRUG:D07312 N-{[(2S)-1-ethylpyrrolidin-2-yl]methyl}-2-methoxy-5-sulfamoylbenzamide Patent:KR20110090142 Patent:US2011052700 Reaxys:3563418 S-(-)-N-(1-Ethyl-2-pyrrolidinomethyl)-2-methoxy-5-sulfamoylebenzamide Tomasz Adamusiak Wikipedia:Levosulpiride levosulpirida levosulpiride levosulpiridum http://www.ebi.ac.uk/efo/EFO_0003291 NAN 190 hydrobromide 1-(2-Methoxyphenyl)-4-(4-(2-phthalimido)butyl)piperazine hydrobromide 1-[4-(1,3-dioxo-1,3-dihydro-2H-isoindol-2-yl)butyl]-4-(2-methoxyphenyl)piperazin-1-ium bromide 2-{4-[4-(2-methoxyphenyl)piperazin-1-yl]butyl}-1H-isoindole-1,3(2H)-dione hydrobromide Br.COc1ccccc1N1CCN(CCCCN2C(=O)c3ccccc3C2=O)CC1 C23H28BrN3O3 ChEMBL:805692 ChemIDplus:115338-32-4 Class imported / merged by efoimporter Ele Holloway InChI=1S/C23H27N3O3.BrH/c1-29-21-11-5-4-10-20(21)25-16-14-24(15-17-25)12-6-7-13-26-22(27)18-8-2-3-9-19(18)23(26)28;/h2-5,8-11H,6-7,12-17H2,1H3;1H InChIKey=AXRUEPFPTQYHQD-UHFFFAOYSA-N James Malone NAN190 hydrobromide Nan 190 Reaxys:4775818 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003290 2-\{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino\}tetralin-7-ol maleate 2-{[(2E)-3-iodoallyl](propyl)amino}tetralin-7-ol maleate 7-hydroxy-N-[(2E)-3-iodoprop-2-en-1-yl]-N-propyl-1,2,3,4-tetrahydronaphthalen-2-aminium (2Z)-3-carboxyacrylate 7-hydroxy-PIPAT maleate 7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol (2Z)-but-2-enedioate 7-{[(2E)-3-iodoprop-2-en-1-yl](propyl)amino}-5,6,7,8-tetrahydronaphthalen-2-ol maleate C20H26INO5 Class imported / merged by efoimporter Ele Holloway InChI=1S/C16H22INO.C4H4O4/c1-2-9-18(10-3-8-17)15-6-4-13-5-7-16(19)12-14(13)11-15;5-3(6)1-2-4(7)8/h3,5,7-8,12,15,19H,2,4,6,9-11H2,1H3;1-2H,(H,5,6)(H,7,8)/b8-3+;2-1- InChIKey=IQRDHLSQXOATHD-HBRCEPSSSA-N James Malone OC(=O)\\C=C/C(O)=O.CCCN(C\\C=C\\I)C1CCc2ccc(O)cc2C1 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003275 (2R,3S)-EHNA hydrochloride (2R,3S)-3-(6-amino-9H-purin-9-yl)nonan-2-ol hydrochloride (2R,3S)-3-(adenin-9-yl)-2-nonanol hydrochloride (2R,3S)-9-(2-hydroxy-3-nonyl)adenine hydrochloride (2R,3S)-EHNA.HCl (R,S)-6-amino-beta-hexyl-alpha-methyl-9H-purine-9-ethanol hydrochloride C14H24ClN5O ChEMBL:806089 Cl.CCCCCC[C@@H]([C@@H](C)O)n1cnc2c(N)ncnc12 Class imported / merged by efoimporter Ele Holloway InChI=1S/C14H23N5O.ClH/c1-3-4-5-6-7-11(10(2)20)19-9-18-12-13(15)16-8-17-14(12)19;/h8-11,20H,3-7H2,1-2H3,(H2,15,16,17);1H/t10-,11+;/m1./s1 InChIKey=VVDXNJRUNJMYOZ-DHXVBOOMSA-N James Malone Reaxys:4729841 Tomasz Adamusiak erythro-9-(2-hydroxy-3-nonyl)adenine hydrochloride http://www.ebi.ac.uk/efo/EFO_0003272 tropanyl 3,5-dimethylbenzoate (3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl 3,5-dimethylbenzoate C17H23NO2 CN1[C@H]2CC[C@@H]1C[C@@H](C2)OC(=O)c1cc(C)cc(C)c1 ChEMBL:1221273 ChemIDplus:85181-40-4 CiteXplore:1314791 CiteXplore:15350826 CiteXplore:17948891 CiteXplore:18718451 CiteXplore:19953653 CiteXplore:2223050 CiteXplore:2498925 CiteXplore:3990828 CiteXplore:6472484 CiteXplore:8048747 CiteXplore:8429917 CiteXplore:9838105 Class imported / merged by efoimporter Ele Holloway InChI=1S/C17H23NO2/c1-11-6-12(2)8-13(7-11)17(19)20-16-9-14-4-5-15(10-16)18(14)3/h6-8,14-16H,4-5,9-10H2,1-3H3/t14-,15+,16+ InChIKey=HDDNYFLPWFSBLN-ZSHCYNCHSA-N James Malone MDL 72222 Reaxys:21043097 Tomasz Adamusiak Tropyl 3,5-dimethylbenzoate http://www.ebi.ac.uk/efo/EFO_0003267 tropanserin tropanserina tropanserine tropanserinum depudecin (-)-depudecin (1R)-1-{(2S,3S)-3-[(E)-2-{(2S,3S)-3-[(1R)-1-hydroxyethyl]oxiran-2-yl}ethenyl]oxiran-2-yl}prop-2-en-1-ol (1S,3E,6S)-1,2:5,6-dianhydro-3,4-dideoxy-1-[(1R)-1-hydroxyethyl]-6-[(1R)-1-hydroxyprop-2-en-1-yl]-D-threo-hex-3-enitol 4,5:8,9-dianhydro-1,2,6,7,11-pentadeoxy-D-threo-D-ido-undeca-1,6-dienitol C11H16O4 ChemIDplus:139508-73-9 CiteXplore:10737176 CiteXplore:11562279 CiteXplore:12623206 CiteXplore:1500354 CiteXplore:1731795 CiteXplore:19737099 CiteXplore:8845831 CiteXplore:9383455 CiteXplore:9520362 CiteXplore:9520369 Class imported / merged by efoimporter Ele Holloway InChI=1S/C11H16O4/c1-3-7(13)11-9(15-11)5-4-8-10(14-8)6(2)12/h3-13H,1H2,2H3/b5-4+/t6-,7-,8+,9+,10+,11+/m1/s1 InChIKey=DLVJMFOLJOOWFS-INMLLLKOSA-N James Malone Reaxys:6803701 Tomasz Adamusiak [H][C@]1(O[C@H]1\\C=C\\[C@@H]1O[C@@]1([H])[C@H](O)C=C)[C@@H](C)O http://www.ebi.ac.uk/efo/EFO_0003301 1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine maleate 1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidine (2Z)-but-2-enedioate 1-[1-(1-benzothiophen-2-yl)cyclohexyl]piperidinium (2Z)-3-carboxyacrylate BTCP maleate C23H29NO4S Class imported / merged by efoimporter Ele Holloway InChI=1S/C19H25NS.C4H4O4/c1-5-11-19(12-6-1,20-13-7-2-8-14-20)18-15-16-9-3-4-10-17(16)21-18;5-3(6)1-2-4(7)8/h3-4,9-10,15H,1-2,5-8,11-14H2;1-2H,(H,5,6)(H,7,8)/b;2-1- InChIKey=AMTYJSWZECGJOO-BTJKTKAUSA-N James Malone OC(=O)\\C=C/C(O)=O.C1CCN(CC1)C1(CCCCC1)c1cc2ccccc2s1 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003264 5-nonyloxytryptamine oxalate 2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine ethanedioate 2-[5-(nonyloxy)-1H-indol-3-yl]ethanamine oxalate 2-[5-(nonyloxy)-1H-indol-3-yl]ethanaminium hydrogen oxalate 3-(2-aminoethyl)-5-nonyloxyindole oxalate C21H32N2O5 Class imported / merged by efoimporter Ele Holloway InChI=1S/C19H30N2O.C2H2O4/c1-2-3-4-5-6-7-8-13-22-17-9-10-19-18(14-17)16(11-12-20)15-21-19;3-1(4)2(5)6/h9-10,14-15,21H,2-8,11-13,20H2,1H3;(H,3,4)(H,5,6) InChIKey=JORSCLBFSAAOFR-UHFFFAOYSA-N James Malone O-nonylserotonin oxalate OC(=O)C(O)=O.CCCCCCCCCOc1ccc2[nH]cc(CCN)c2c1 Reaxys:7065207 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003260 imetit dihydrobromide 2-(1H-imidazol-4-yl)ethyl carbamimidothioate dihydrobromide Br.Br.NC(=N)SCCc1c[nH]cn1 C6H12Br2N4S ChEMBL:1014759 Class imported / merged by efoimporter Ele Holloway InChI=1S/C6H10N4S.2BrH/c7-6(8)11-2-1-5-3-9-4-10-5;;/h3-4H,1-2H2,(H3,7,8)(H,9,10);2*1H InChIKey=DOBOYMKCRRLTRF-UHFFFAOYSA-N James Malone Reaxys:32385-58-3 Reaxys:5833853 S-{2-[1H-imidazol-4-yl]ethyl}isothiourea dihydrobromide Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003259 imetit hydrobromide tanespimycin (4E,6Z,8S,9S,10E,12S,13R,14S,16R)-13-hydroxy-8,14-dimethoxy-4,10,12,16-tetramethyl-3,20,22-trioxo-19-(prop-2-en-1-ylamino)-2-azabicyclo[16.3.1]docosa-1(21),4,6,10,18-pentaen-9-yl carbamate 17-(Allylamino)-17-demethoxygeldanamycin 17-(Allylamino)geldanamycin 17-AAG 17-Demethoxy-17-allylamino geldanamycin 17-N-allylamino-17-demethoxygeldanamycin 17-allylaminogeldanamycin 17-demethoxy-17-(2-propenylamino)geldanamycin 17AAG C31H43N3O8 CO[C@H]1C[C@H](C)CC2=C(NCC=C)C(=O)C=C(NC(=O)\\C(C)=C\\C=C/[C@H](OC)[C@@H](OC(N)=O)\\C(C)=C\\[C@H](C)[C@H]1O)C2=O ChEMBL:283934 ChemIDplus:75747-14-7 CiteXplore:20652703 CiteXplore:20683637 CiteXplore:21219297 CiteXplore:21283735 CiteXplore:21454186 CiteXplore:21534941 CiteXplore:21558407 CiteXplore:21594721 CiteXplore:21670086 CiteXplore:21791475 CiteXplore:21856392 CiteXplore:22047770 CiteXplore:22209975 CiteXplore:22377218 Class imported / merged by efoimporter Ele Holloway InChI=1S/C31H43N3O8/c1-8-12-33-26-21-13-17(2)14-25(41-7)27(36)19(4)15-20(5)29(42-31(32)39)24(40-6)11-9-10-18(3)30(38)34-22(28(21)37)16-23(26)35/h8-11,15-17,19,24-25,27,29,33,36H,1,12-14H2,2-7H3,(H2,32,39)(H,34,38)/b11-9-,18-10+,20-15+/t17-,19+,24+,25+,27-,29+/m1/s1 InChIKey=AYUNIORJHRXIBJ-TXHRRWQRSA-N James Malone Reaxys:7402240 Tomasz Adamusiak Wikipedia:17-N-Allylamino-17-demethoxygeldanamycin http://www.ebi.ac.uk/efo/EFO_0003299 17-allylamino-geldanamycin 2-methyl-6-(phenylethynyl)pyridine hydrochloride 2-methyl-6-(phenylethynyl)pyridine hydrochloride 2-methyl-6-(phenylethynyl)pyridinium chloride 6-methyl-2-(phenylethynyl)pyridine hydrochloride 6-methyl-2-(phenylethynyl)pyridinium chloride C14H12ClN ChEMBL:804849 CiteXplore:20347777 Cl.Cc1cccc(n1)C#Cc1ccccc1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C14H11N.ClH/c1-12-6-5-9-14(15-12)11-10-13-7-3-2-4-8-13;/h2-9H,1H3;1H InChIKey=PKDHDJBNEKXCBI-UHFFFAOYSA-N James Malone MPEP hydrochloride Reaxys:9652435 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003251 N-methylquipazine dimaleate 2-(4-methylpiperazin-1-yl)quinoline di[(2Z)-but-2-enedioate] 2-(4-methylpiperazin-1-yl)quinoline dimaleate 2-(4-methylpiperazin-1-yl)quinoline maleate C22H25N3O8 ChEMBL:934632 Class imported / merged by efoimporter Ele Holloway InChI=1S/C14H17N3.2C4H4O4/c1-16-8-10-17(11-9-16)14-7-6-12-4-2-3-5-13(12)15-14;2*5-3(6)1-2-4(7)8/h2-7H,8-11H2,1H3;2*1-2H,(H,5,6)(H,7,8)/b;2*2-1- InChIKey=HNSITEGFVDCKMF-SPIKMXEPSA-N James Malone N-methylquipazine maleate Reaxys:7614127 Tomasz Adamusiak [H+].[H+].[H+].[H+].[O-]C(=O)\\C=C/C([O-])=O.[O-]C(=O)\\C=C/C([O-])=O.CN1CCN(CC1)c1ccc2ccccc2n1 http://www.ebi.ac.uk/efo/EFO_0003245 diquat 1,1'-Ethylene-2,2'-bipyridyldylium ion 1,1'-Ethylene-2,2'-bipyridylium ion 6,7-dihydrodipyrido[1,2-a:2',1'-c]pyrazinediium 9,10-Dihydro-8a,10a-diazoniaphenanthrene C12H12N2 C1C[n+]2ccccc2-c2cccc[n+]12 ChEMBL:1148671 ChemIDplus:2764-72-9 Class imported / merged by efoimporter Diquat dication Ele Holloway InChI=1S/C12H12N2/c1-3-7-13-9-10-14-8-4-2-6-12(14)11(13)5-1/h1-8H,9-10H2/q+2 InChIKey=SYJFEGQWDCRVNX-UHFFFAOYSA-N James Malone Reaxys:3670526 Tomasz Adamusiak Wikipedia:Diquat http://www.ebi.ac.uk/efo/EFO_0003310 clobenpropit dihydrobromide 3-(1H-imidazol-4-yl)propyl N-(4-chlorobenzyl)carbamimidothioate dihydrobromide Br.Br.Clc1ccc(CNC(=N)SCCCc2c[nH]cn2)cc1 C14H19Br2ClN4S Class imported / merged by efoimporter Ele Holloway InChI=1S/C14H17ClN4S.2BrH/c15-12-5-3-11(4-6-12)8-18-14(16)20-7-1-2-13-9-17-10-19-13;;/h3-6,9-10H,1-2,7-8H2,(H2,16,18)(H,17,19);2*1H InChIKey=JIJQPEZAVLJZBO-UHFFFAOYSA-N James Malone Reaxys:145231-35-2 Reaxys:584034 Tomasz Adamusiak clobenpropit hydrobromide http://www.ebi.ac.uk/efo/EFO_0003238 benserazide 2-amino-3-hydroxy-N'-(2,3,4-trihydroxybenzyl)propanehydrazide C10H15N3O5 ChEMBL:727070 ChemIDplus:322-35-0 CiteXplore:12703659 CiteXplore:22236652 Class imported / merged by efoimporter DL-serine 2-(2,3,4-trihydroxybenzyl)hydrazide DL-serine 2-[(2,3,4-trihydroxyphenyl)methyl]hydrazide Ele Holloway InChI=1S/C10H15N3O5/c11-6(4-14)10(18)13-12-3-5-1-2-7(15)9(17)8(5)16/h1-2,6,12,14-17H,3-4,11H2,(H,13,18) InChIKey=BNQDCRGUHNALGH-UHFFFAOYSA-N James Malone KEGG DRUG:D03082 NC(CO)C(=O)NNCc1ccc(O)c(O)c1O Patent:BE619015 Patent:US3178476 Reaxys:3984490 Ro 4-4602 Ro 44602 Tomasz Adamusiak Wikipedia:Benserazide benserazida benserazide benserazidum http://www.ebi.ac.uk/efo/EFO_0003279 nafadotride (+-)-nafadotride C22H27N3O2 CCCCN1CCCC1CNC(=O)c1cc(C#N)c2ccccc2c1OC ChEMBL:134432 ChemIDplus:149649-22-9 CiteXplore:8531087 CiteXplore:9252981 Class imported / merged by efoimporter Ele Holloway InChI=1S/C22H27N3O2/c1-3-4-11-25-12-7-8-17(25)15-24-22(26)20-13-16(14-23)18-9-5-6-10-19(18)21(20)27-2/h5-6,9-10,13,17H,3-4,7-8,11-12,15H2,1-2H3,(H,24,26) InChIKey=IDZASIQMRGPBCQ-UHFFFAOYSA-N James Malone N-[(1-butylpyrrolidin-2-yl)methyl]-4-cyano-1-methoxynaphthalene-2-carboxamide Reaxys:8356954 Tomasz Adamusiak Wikipedia:Nafadotride http://www.ebi.ac.uk/efo/EFO_0003282 nafadotride paroxetine maleate (-)-alpha-4-(4-Fluorophenyl)-3-(1,3-benzdioxolyl-(3))-oxymethyl piperidine maleate (3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine (2Z)-but-2-enedioate (3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine maleate (3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidinium (2Z)-3-carboxyacrylate C23H24FNO7 ChEMBL:973374 ChemIDplus:64006-44-6 Class imported / merged by efoimporter DrugBank:DB00715 Ele Holloway InChI=1S/C19H20FNO3.C4H4O4/c20-15-3-1-13(2-4-15)17-7-8-21-10-14(17)11-22-16-5-6-18-19(9-16)24-12-23-18;5-3(6)1-2-4(7)8/h1-6,9,14,17,21H,7-8,10-12H2;1-2H,(H,5,6)(H,7,8)/b;2-1-/t14-,17-;/m0./s1 InChIKey=AEIUZSKXSWGSRU-QXGDPHCHSA-N James Malone OC(=O)\\C=C/C(O)=O.[H][C@]1(CCNC[C@H]1COc1ccc2OCOc2c1)c1ccc(F)cc1 Patent:EP1078925 Patent:EP269303 Patent:US4745122 Patent:US5874447 Patent:US6440459 Reaxys:14623212 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003198 trans-(-)-3-((1,3-Benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine maleate ritanserin 6-(2-(4-(bis(p-fluorophenyl)methylene)-piperidino)ethyl)-7-methyl-5H-thiazolo-(3,2-a)pyrimidin-5-one 6-(2-{4-[bis(4-fluorophenyl)methylidene]piperidin-1-yl}ethyl)-7-methyl-5H-[1,3]thiazolo[3,2-a]pyrimidin-5-one C27H25F2N3OS Cc1nc2sccn2c(=O)c1CCN1CCC(CC1)=C(c1ccc(F)cc1)c1ccc(F)cc1 ChEMBL:110747 ChemIDplus:87051-43-2 CiteXplore:11897543 CiteXplore:12905101 CiteXplore:18801405 CiteXplore:8974378 Class imported / merged by efoimporter Ele Holloway InChI=1S/C27H25F2N3OS/c1-18-24(26(33)32-16-17-34-27(32)30-18)12-15-31-13-10-21(11-14-31)25(19-2-6-22(28)7-3-19)20-4-8-23(29)9-5-20/h2-9,16-17H,10-15H2,1H3 InChIKey=JUQLTPCYUFPYKE-UHFFFAOYSA-N James Malone KEGG DRUG:D05738 Patent:US4533665 R 55,667 R-55667 Reaxys:4913835 Tomasz Adamusiak Wikipedia:Ritanserin http://www.ebi.ac.uk/efo/EFO_0003225 ritanserin ritanserina ritanserine ritanserinum dimercaprol 1,2-dimercapto-3-propanol 1,2-dithioglycerol 2,3-dimercapto-1-propanol 2,3-dimercaptol-1-propanol 2,3-dimercaptopropanol 2,3-disulfanylpropan-1-ol 2,3-dithiopropanol 2,3-mercaptopropan-1-ol 3-hydroxy-1,2-propanedithiol BAL British anti-Lewisite British antilewisite C3H8OS2 ChEMBL:554382 ChemIDplus:59-52-9 CiteXplore:12605205 CiteXplore:14882450 CiteXplore:21006485 CiteXplore:21803782 CiteXplore:9292286 Class imported / merged by efoimporter DrugBank:DB06782 Ele Holloway InChI=1S/C3H8OS2/c4-1-3(6)2-5/h3-6H,1-2H2 InChIKey=WQABCVAJNWAXTE-UHFFFAOYSA-N James Malone KEGG COMPOUND:59-52-9 KEGG COMPOUND:C02924 KEGG DRUG:D00167 NIST Chemistry WebBook:59-52-9 OCC(S)CS Patent:US2402665 Reaxys:1732058 Tomasz Adamusiak Wikipedia:Dimercaprol alpha,beta-dithioglycerol dimercaprol dimercaprolum dimercaptopropanol dithioglycerine dithioglycerol http://www.ebi.ac.uk/efo/EFO_0003175 sulfactin carmoxirole hydrochloride 1-[4-(5-carboxy-1H-indol-3-yl)butyl]-4-phenyl-1,2,3,6-tetrahydropyridinium chloride 3-[4-(4-phenyl-3,6-dihydropyridin-1(2H)-yl)butyl]-1H-indole-5-carboxylic acid hydrochloride C24H27ClN2O2 ChEMBL:1134451 Cl.OC(=O)c1ccc2[nH]cc(CCCCN3CCC(=CC3)c3ccccc3)c2c1 Class imported / merged by efoimporter Ele Holloway InChI=1S/C24H26N2O2.ClH/c27-24(28)20-9-10-23-22(16-20)21(17-25-23)8-4-5-13-26-14-11-19(12-15-26)18-6-2-1-3-7-18;/h1-3,6-7,9-11,16-17,25H,4-5,8,12-15H2,(H,27,28);1H InChIKey=LRJUHOBITQUXIO-UHFFFAOYSA-N James Malone Reaxys:5689787 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003194 methiothepin maleate 1-(10,11-Dihydro-8-(methylthio)dibenzo(b,f)thiepin-10-yl)-4-methylpiperazine maleate 1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine (2Z)-but-2-enedioate 1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine maleate 1-methyl-4-[8-(methylsulfanyl)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazinediium (2Z)-but-2-enedioate 1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine (2Z)-but-2-enedioate 1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazine maleate 1-methyl-4-[8-(methylthio)-10,11-dihydrodibenzo[b,f]thiepin-10-yl]piperazinediium (2Z)-but-2-enedioate 8-Methylthio-10-(4-methylpiperazino)-10,11-dihydrodibenzo(b,f)thiepin maleate C24H28N2O4S2 ChEMBL:882802 ChemIDplus:19728-88-2 CiteXplore:18480175 CiteXplore:2138403 CiteXplore:2142373 CiteXplore:554040 CiteXplore:6448038 Class imported / merged by efoimporter Ele Holloway InChI=1S/C20H24N2S2.C4H4O4/c1-21-9-11-22(12-10-21)18-13-15-5-3-4-6-19(15)24-20-8-7-16(23-2)14-17(18)20;5-3(6)1-2-4(7)8/h3-8,14,18H,9-13H2,1-2H3;1-2H,(H,5,6)(H,7,8)/b;2-1- InChIKey=IWDBEHWZGDSFHR-BTJKTKAUSA-N James Malone Metitepine maleate OC(=O)\\C=C/C(O)=O.CSc1ccc2Sc3ccccc3CC(N3CCN(C)CC3)c2c1 Reaxys:4119981 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003192 bromochloroacetic acid BrCH(Cl)CO2H BrCH(Cl)COOH C2H2BrClO2 ChEMBL:587790 ChemIDplus:5589-96-8 CiteXplore:10910985 CiteXplore:12075119 CiteXplore:12830896 CiteXplore:15686870 CiteXplore:18075178 CiteXplore:19340096 CiteXplore:20839218 Class imported / merged by efoimporter Ele Holloway InChI=1S/C2H2BrClO2/c3-1(4)2(5)6/h1H,(H,5,6) InChIKey=GEHJBWKLJVFKPS-UHFFFAOYSA-N James Malone KEGG COMPOUND:5589-96-8 KEGG COMPOUND:C19212 OC(=O)C(Cl)Br Reaxys:1720556 Tomasz Adamusiak bromo(chloro)acetic acid bromochloroethanoic acid chlorobromoacetic acid http://www.ebi.ac.uk/efo/EFO_0003189 spiramide 8-[3-(4-fluorophenoxy)propyl]-1-phenyl-1,3,8-triazaspiro[4.5]decan-4-one AMI-193 C22H26FN3O2 ChEMBL:229410 ChemIDplus:510-74-7 CiteXplore:11124389 CiteXplore:17965538 CiteXplore:19875674 CiteXplore:4474849 CiteXplore:4776656 Class imported / merged by efoimporter Ele Holloway Fc1ccc(OCCCN2CCC3(CC2)N(CNC3=O)c2ccccc2)cc1 InChI=1S/C22H26FN3O2/c23-18-7-9-20(10-8-18)28-16-4-13-25-14-11-22(12-15-25)21(27)24-17-26(22)19-5-2-1-3-6-19/h1-3,5-10H,4,11-17H2,(H,24,27) InChIKey=FJUKDAZEABGEIH-UHFFFAOYSA-N James Malone Patent:US3238216 Reaxys:631679 Tomasz Adamusiak Wikipedia:Spiramide espiramida http://www.ebi.ac.uk/efo/EFO_0003330 spiramide spiramidum (2Z,3Z)-bis\{amino[(2-aminophenyl)sulfanyl]methylidene\}butanedinitrile (2Z,3Z)-bis{amino[(2-aminophenyl)sulfanyl]methylene}succinonitrile 1,4-Diamino-2,3-dicyano-1,4-bis(o-aminophenylmercapto)butadiene C18H16N6S2 ChEMBL:150681 ChemIDplus:109511-58-2 CiteXplore:21618303 CiteXplore:22025280 CiteXplore:22052387 CiteXplore:22075021 CiteXplore:22101421 CiteXplore:22129618 CiteXplore:22182511 CiteXplore:22273495 CiteXplore:22286127 CiteXplore:22301382 CiteXplore:22313325 CiteXplore:22354777 CiteXplore:22396328 Class imported / merged by efoimporter Ele Holloway InChI=1S/C18H16N6S2/c19-9-11(17(23)25-15-7-3-1-5-13(15)21)12(10-20)18(24)26-16-8-4-2-6-14(16)22/h1-8H,21-24H2/b17-11+,18-12+ InChIKey=DVEXZJFMOKTQEZ-JYFOCSDGSA-N James Malone Nc1ccccc1S\\C(N)=C(C#N)\\C(C#N)=C(/N)Sc1ccccc1N PDBeChem:5BM Reaxys:3483750 Tomasz Adamusiak U 0126 U0126 Wikipedia:U0126 http://www.ebi.ac.uk/efo/EFO_0003322 4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid 4-{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino}benzoic acid AM-580 AM580 Am 580 C22H25NO3 CC1(C)CCC(C)(C)c2cc(ccc12)C(=O)Nc1ccc(cc1)C(O)=O CD 336 CD-336 ChEMBL:209312 ChemIDplus:102121-60-8 ChemIDplus:3565084 CiteXplore:18271925 CiteXplore:18416830 CiteXplore:19700416 CiteXplore:19790202 CiteXplore:20147703 CiteXplore:20453882 CiteXplore:21150871 CiteXplore:21310893 CiteXplore:21715427 CiteXplore:22258322 CiteXplore:22353356 Class imported / merged by efoimporter Ele Holloway InChI=1S/C22H25NO3/c1-21(2)11-12-22(3,4)18-13-15(7-10-17(18)21)19(24)23-16-8-5-14(6-9-16)20(25)26/h5-10,13H,11-12H2,1-4H3,(H,23,24)(H,25,26) InChIKey=SZWKGOZKRMMLAJ-UHFFFAOYSA-N James Malone PDB:3KMR Reaxys:3565084 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003320 8-bromo-3',5'-cyclic AMP 8-Br-cAMP 8-Bromo cyclic adenosine monophosphate 8-Bromo-cyclic 3',5'-AMP 8-Bromo-cyclic AMP 8-Bromoadenosine 3',5'-cyclic monophosphate 8-Bromoadenosine 3',5'-monophosphate 8-Bromoadenosine cyclic 3',5'-phosphate 8-bromo-cyclic AMP 8-bromoadenosine 3',5'-(hydrogen phosphate) BCAMP C10H11BrN5O6P ChEMBL:1149128 ChemIDplus:23583-48-4 CiteXplore:10708595 CiteXplore:1320750 CiteXplore:1367038 CiteXplore:15121638 CiteXplore:16134057 CiteXplore:17140607 CiteXplore:1849229 CiteXplore:1982459 CiteXplore:2413029 CiteXplore:2478258 CiteXplore:2560108 CiteXplore:2581952 CiteXplore:2744214 CiteXplore:3032362 CiteXplore:3094467 CiteXplore:6128338 CiteXplore:6196214 CiteXplore:6327153 CiteXplore:6367831 CiteXplore:8095554 CiteXplore:8107042 CiteXplore:8394699 CiteXplore:8699249 CiteXplore:8730238 CiteXplore:8841091 CiteXplore:9042334 Class imported / merged by efoimporter Cyclic 8-bromoadenosine 3',5'-monophosphate Ele Holloway InChI=1S/C10H11BrN5O6P/c11-10-15-4-7(12)13-2-14-8(4)16(10)9-5(17)6-3(21-9)1-20-23(18,19)22-6/h2-3,5-6,9,17H,1H2,(H,18,19)(H2,12,13,14)/t3-,5-,6-,9-/m1/s1 InChIKey=DVKQVRZMKBDMDH-UUOKFMHZSA-N James Malone Nc1ncnc2n([C@@H]3O[C@@H]4COP(O)(=O)O[C@H]4[C@H]3O)c(Br)nc12 Reaxys:591930 Tomasz Adamusiak Wikipedia:8-Bromoadenosine_3',5'-cyclic_monophosphate http://www.ebi.ac.uk/efo/EFO_0003319 sulindac sulfone 5-Fluoro-2-methyl-1-((Z)-p-(methylsulfonyl)benzylidene)indene-3-acetic acid C20H17FO4S CC1=C(CC(O)=O)c2cc(F)ccc2C\\1=C/c1ccc(cc1)S(C)(=O)=O ChEMBL:551936 ChemIDplus:59973-80-7 CiteXplore:17016604 CiteXplore:20332437 CiteXplore:20374023 CiteXplore:21515355 CiteXplore:21735687 CiteXplore:22364235 Class imported / merged by efoimporter Ele Holloway InChI=1S/C20H17FO4S/c1-12-17(9-13-3-6-15(7-4-13)26(2,24)25)16-8-5-14(21)10-19(16)18(12)11-20(22)23/h3-10H,11H2,1-2H3,(H,22,23)/b17-9- InChIKey=MVGSNCBCUWPVDA-MFOYZWKCSA-N James Malone Patent:EP1336602 Patent:US5696159 Patent:US5776962 Reaxys:7887099 Tomasz Adamusiak Wikipedia:Exisulind cis-5-Fluoro-2-methyl-1-(p-methylsulfonylbenzylidenyl)indene-3-acetic acid exisulind http://www.ebi.ac.uk/efo/EFO_0003219 {(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfonyl)benzylidene]-1H-inden-3-yl}acetic acid cantharidin (3aR,4S,7R,7aS)-3a,7a-dimethylhexahydro-4,7-epoxy-2-benzofuran-1,3-dione 1,2-Dimethyl-3,6-epoxyperhydrophthalic anhydride C10H12O4 C[C@]12[C@@H]3CC[C@@H](O3)[C@@]1(C)C(=O)OC2=O Cantharidine Cantharone ChEMBL:169448 ChemIDplus:56-25-7 ChemIDplus:85302 CiteXplore:20594813 CiteXplore:21595743 CiteXplore:21668865 CiteXplore:21907641 CiteXplore:21930197 CiteXplore:22001622 CiteXplore:22233030 CiteXplore:22351815 CiteXplore:22380659 CiteXplore:22402807 Class imported / merged by efoimporter Ele Holloway InChI=1S/C10H12O4/c1-9-5-3-4-6(13-5)10(9,2)8(12)14-7(9)11/h5-6H,3-4H2,1-2H3/t5-,6+,9+,10- InChIKey=DHZBEENLJMYSHQ-XCVPVQRUSA-N James Malone Kantharidin Reaxys:85302 Tomasz Adamusiak Wikipedia:Cantharidin exo-1,2-cis-Dimethyl-3,6-epoxyhexahydrophthalic anhydride http://www.ebi.ac.uk/efo/EFO_0003215 2,3-dimethoxynaphthalene-1,4-dione 2,3-dimethoxy-1,4-naphthalenedione 2,3-dimethoxy-1,4-naphthoquinone C12H10O4 COC1=C(OC)C(=O)c2ccccc2C1=O ChEMBL:532377 ChemIDplus:6956-96-3 CiteXplore:19338340 CiteXplore:20803752 CiteXplore:8103030 CiteXplore:8393647 Class imported / merged by efoimporter DMNQ Ele Holloway InChI=1S/C12H10O4/c1-15-11-9(13)7-5-3-4-6-8(7)10(14)12(11)16-2/h3-6H,1-2H3 InChIKey=ZEGDFCCYTFPECB-UHFFFAOYSA-N James Malone NSC 69355 Patent:US4628062 Patent:US5314914 Reaxys:2049895 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003210 metergoline (((8-beta)-1,6-Dimethylergolin-8-yl)methyl)carbamic acid benzyl ester (((8-beta)-1,6-Dimethylergolin-8-yl)methyl)carbamic acid phenylmethyl ester (+)-N-(Carboxy)-1-methyl-9,10-dihydrolysergamine benzyl ester 1,6-Dimethyl-8-beta-carbobenzyloxaminomethyl-10-alpha-ergoline 1-Methyl-8-beta-carbobenzyloxyaminomethyl-10-alpha-ergoline 1-Methyl-N-carbobenzyloxydihydro-D-lysergamin C25H29N3O2 ChEMBL:121938 ChemIDplus:17692-51-2 CiteXplore:18996971 CiteXplore:19484723 CiteXplore:19509219 CiteXplore:19538518 CiteXplore:19539656 CiteXplore:19632276 CiteXplore:19945477 CiteXplore:20377624 CiteXplore:20451398 CiteXplore:20845263 CiteXplore:21354537 CiteXplore:21475142 CiteXplore:21600959 CiteXplore:21880033 CiteXplore:22218419 Class imported / merged by efoimporter D-8-beta-((Carbobenzoxyamino)methyl)-1,6-dimethyl-10-alpha-ergoline D-8-beta-((Carboxyamino)methyl)-1,6-dimethylergoline benzyl ester Ele Holloway InChI=1S/C25H29N3O2/c1-27-14-18(13-26-25(29)30-16-17-7-4-3-5-8-17)11-21-20-9-6-10-22-24(20)19(12-23(21)27)15-28(22)2/h3-10,15,18,21,23H,11-14,16H2,1-2H3,(H,26,29)/t18-,21+,23+/m0/s1 InChIKey=WZHJKEUHNJHDLS-QTGUNEKASA-N James Malone KEGG DRUG:17692-51-2 KEGG DRUG:D07218 Metergolin NIST Chemistry WebBook:17692-51-2 Reaxys:5362415 Tomasz Adamusiak Wikipedia:Metergoline [H][C@@]12Cc3cn(C)c4cccc(c34)[C@@]1([H])C[C@@H](CNC(=O)OCc1ccccc1)CN2C benzyl {[(8alpha)-1,6-dimethylergolin-8-yl]methyl}carbamate http://www.ebi.ac.uk/efo/EFO_0003208 metergolina metergoline metergolinum ciglitazone (+-)-5-(p-((1-Methylcyclohexyl)methoxy)benzyl)-2,4-thiazolidinedione 5-{4-[(1-methylcyclohexyl)methoxy]benzyl}-1,3-thiazolidine-2,4-dione C18H23NO3S CC1(CCCCC1)COc1ccc(CC2SC(=O)NC2=O)cc1 ChEMBL:101529 ChemIDplus:74772-77-3 CiteXplore:20596077 CiteXplore:21067863 CiteXplore:21344384 CiteXplore:21354099 CiteXplore:21485077 CiteXplore:21508362 CiteXplore:21681689 CiteXplore:21882481 CiteXplore:22007221 CiteXplore:22131991 CiteXplore:22174792 CiteXplore:22177955 CiteXplore:22192353 CiteXplore:22193206 CiteXplore:22268140 Class imported / merged by efoimporter Ele Holloway InChI=1S/C18H23NO3S/c1-18(9-3-2-4-10-18)12-22-14-7-5-13(6-8-14)11-15-16(20)19-17(21)23-15/h5-8,15H,2-4,9-12H2,1H3,(H,19,20,21) InChIKey=YZFWTZACSRHJQD-UHFFFAOYSA-N James Malone KEGG DRUG:D03493 Reaxys:3623680 Tomasz Adamusiak Wikipedia:Ciglitazone ciglitazona ciglitazone ciglitazonum http://www.ebi.ac.uk/efo/EFO_0003212 levetiracetam (-)-(S)-alpha-ethyl-2-oxo-1-pyrrolidineacetamide (2S)-2-(2-oxopyrrolidin-1-yl)butanamide (S)-(-)-alpha-ethyl-2-oxo-1-pyrrolidineacetamide (S)-alpha-ethyl-2-oxo-1-pyrrolidineacetamide C8H14N2O2 CC[C@H](N1CCCC1=O)C(N)=O ChEMBL:352155 ChemIDplus:102767-28-2 CiteXplore:22119754 CiteXplore:22321334 Class imported / merged by efoimporter DrugBank:DB01202 Ele Holloway InChI=1S/C8H14N2O2/c1-2-6(8(9)12)10-5-3-4-7(10)11/h6H,2-5H2,1H3,(H2,9,12)/t6-/m0/s1 InChIKey=HPHUVLMMVZITSG-LURJTMIESA-N James Malone KEGG COMPOUND:102767-28-2 KEGG COMPOUND:C07841 KEGG DRUG:D00709 Keppra Levetiracetam Reaxys:8407472 Tomasz Adamusiak UCB-L 059 Wikipedia:Levetiracetam http://www.ebi.ac.uk/efo/EFO_0003254 levetiracetam levetiracetamum lincomycin C18H34N2O6S CCC[C@@H]1CC(N(C)C1)C(=O)N[C@H]([C@@H](C)O)[C@H]1O[C@H](SC)[C@H](O)[C@@H](O)[C@H]1O Cillimycin Class imported / merged by efoimporter InChI=1S/C18H34N2O6S/c1-5-6-10-7-11(20(3)8-10)17(25)19-12(9(2)21)16-14(23)13(22)15(24)18(26-16)27-4/h9-16,18,21-24H,5-8H2,1-4H3,(H,19,25)/t9-,10-,11?,12-,13+,14-,15-,16-,18-/m1/s1 InChIKey=OJMMVQQUTAEWLP-ISVUEQNNSA-N KEGG COMPOUND:154-21-2 KEGG COMPOUND:C06812 KEGG DRUG:D00223 Lincomycin Methyl 6,8-dideoxy-6-trans-(1-methyl-4-propyl-L-2-pyrrolidinecarboxamido)-1-thio-D-erythro-alpha-D-galacto-octopyranoside methyl 6,8-dideoxy-6-({[(4R)-1-methyl-4-propylpyrrolidin-2-yl]carbonyl}amino)-1-thio-D-erythro-alpha-D-galacto-octopyranoside lipoxin A4 (5S,6R,7E,9E,11Z,13E,15S)-5,6,15-trihydroxyicosa-7,9,11,13-tetraenoic acid 5S,6R,15S-Trihydroxy-7E,9E,11Z,13E-eicosatetraenoic acid 5S,6R-LipoxinA4 A lipoxin that has formula C20H32O5. C20H32O5 CCCCC[C@H](O)\\C=C\\C=C/C=C/C=C/[C@@H](O)[C@@H](O)CCCC(O)=O InChI=1/C20H32O5/c1-2-3-8-12-17(21)13-9-6-4-5-7-10-14-18(22)19(23)15-11-16-20(24)25/h4-7,9-10,13-14,17-19,21-23H,2-3,8,11-12,15-16H2,1H3,(H,24,25)/b6-4-,7-5+,13-9+,14-10+/t17-,18+,19-/m0/s1/f/h24H InChIKey=IXAQOQZEOGMIQS-RKIRPOAEDD LXA4 NIFSTD:nifext_5168 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001565 LY294002 LY 294002 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one A chromone substituted with a phenyl group at position 8 and a morpholine group at position 2. InChI=1S/C19H17NO3/c21-17-13-18(20-9-11-22-12-10-20)23-19-15(7-4-8-16(17)19)14-5-2-1-3-6-14/h1-8,13H,9-12H2 losartan (2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol (2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol (2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol 114798-26-4 2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole 23227 3227 A biphenylyltetrazole that has formula C22H23ClN6O. A biphenylyltetrazole where a 1,1'-biphenyl group is attached at the 5-position and has an additional trisubstituted imidazol-1-ylmethyl group at the 4'-position A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration. A monounsaturated very long-chain fatty acid with a 22-carbon backbone and a single double bond originating from the 9th position from the methyl end, with the double bond in the trans- configuration.[accessedResource: C22H23ClN6O][accessDate: 05-04-2011] Brassidic Acid Brassidic Acid[accessedResource: C22H23ClN6O][accessDate: 05-04-2011] C22:1, n-9 trans C22:1, n-9 trans[accessedResource: C22H23ClN6O][accessDate: 05-04-2011] C22H23ClN6O C22H23ClN6O CCCCc1nc(Cl)c(CO)n1Cc1ccc(cc1)-c1ccccc1-c1nnn[nH]1 Fatty Acid 22:1 n-9 trans Fatty Acid 22:1 n-9 trans[accessedResource: C22H23ClN6O][accessDate: 05-04-2011] Fatty Acid trans 22:1 n-9 Fatty Acid trans 22:1 n-9[accessedResource: C22H23ClN6O][accessDate: 05-04-2011] InChI=1/C22H23ClN6O/c1-2-3-8-20-24-21(23)19(14-30)29(20)13-15-9-11-16(12-10-15)17-6-4-5-7-18(17)22-25-27-28-26-22/h4-7,9-12,30H,2-3,8,13-14H2,1H3,(H,25,26,27,28)/f/h25H InChIKey=PSIFNNKUMBGKDQ-LNNLXFCOCF Trans docos-13-enoic Acid Trans docos-13-enoic Acid[accessedResource: C22H23ClN6O][accessDate: 05-04-2011] loxtidine C19H29N5O2 ChemIDplus:76956-02-0 CiteXplore:10219966 CiteXplore:11025361 CiteXplore:15940630 CiteXplore:1600050 CiteXplore:2038267 CiteXplore:2568467 CiteXplore:2883848 CiteXplore:2895888 CiteXplore:4041682 CiteXplore:6145595 CiteXplore:7605857 CiteXplore:8026255 CiteXplore:9131722 Class imported / merged by efoimporter Cn1nc(CO)nc1NCCCOc1cccc(CN2CCCCC2)c1 Ele Holloway InChI=1S/C19H29N5O2/c1-23-19(21-18(15-25)22-23)20-9-6-12-26-17-8-5-7-16(13-17)14-24-10-3-2-4-11-24/h5,7-8,13,25H,2-4,6,9-12,14-15H2,1H3,(H,20,21,22) InChIKey=VTLNPNNUIJHJQB-UHFFFAOYSA-N James Malone KEGG COMPOUND:76956-02-0 KEGG COMPOUND:C11805 Lavoltidine Loxtidina Loxtidine Loxtidinum Reaxys:6876968 Tomasz Adamusiak Wikipedia:Loxtidine [1-methyl-5-({3-[3-(piperidin-1-ylmethyl)phenoxy]propyl}amino)-1H-1,2,4-triazol-3-yl]methanol http://www.ebi.ac.uk/efo/EFO_0003246 lavoltidina lavoltidine lavoltidinum malathion C10H19O6PS2 CCOC(=O)CC(SP(=S)(OC)OC)C(=O)OCC ChEMBL:774419 ChemIDplus:121-75-5 ChemIDplus:1804525 Class imported / merged by efoimporter InChI=1S/C10H19O6PS2/c1-5-15-9(11)7-8(10(12)16-6-2)19-17(18,13-3)14-4/h8H,5-7H2,1-4H3 InChIKey=JXSJBGJIGXNWCI-UHFFFAOYSA-N KEGG COMPOUND:121-75-5 KEGG COMPOUND:C07497 Karbofos Malathion Maldison NIST Chemistry WebBook:121-75-5 O,O-dimethyl S-(1,2-bis(ethoxycarbonyl)ethyl) O,O-dimethyl S-(1,2-dicarbethoxyethyl) dithiophosphate O,O-dimethyl S-(1,2-dicarbethoxyethyl)phosphorodithioate O,O-dimethyl S-1,2-di(ethoxycarbamyl)ethyl O,O-dimethyldithiophosphate diethylmercaptosuccinate Wikipedia:Malathion [(dimethoxyphosphinothioyl)thio]butanedioic acid diethyl ester carbophos diethyl (dimethoxyphosphinothioylthio)succinate diethyl 2-[(dimethoxyphosphorothioyl)sulfanyl]butanedioate mercaptothion mesalamine 3-carboxy-4-hydroxyaniline 5-ASA 5-Aminosalicylic acid 5-amino-2-hydroxybenzoic acid Asacol Asacolitin Beilstein:2090421 C7H7NO3 Canasa ChEMBL:133202 Class imported / merged by efoimporter Claversal DrugBank:DB00244 Fisalamine Iialda InChI=1S/C7H7NO3/c8-4-1-2-6(9)5(3-4)7(10)11/h1-3,9H,8H2,(H,10,11) InChIKey=KBOPZPXVLCULAV-UHFFFAOYSA-N KEGG DRUG:D00377 Lixacol Mesalazina Mesalazine Mesalazinum Mesasal Nc1ccc(O)c(c1)C(O)=O Pentasa Rowasa Salofalk Wikipedia:Mesalamine http://www.ebi.ac.uk/efo/EFO_0001569 m-Aminosalicylic acid mesalazine p-Aminosalicylsaeure metformin 1,1-Dimethylbiguanide A guanidine that has formula C4H11N5. C4H11N5 CHEBI_6801 CN(C)C(=N)NC(N)=N CN(C)C(=N)NC(N)=N ChemIDplus:657-24-9 InChI=1/C4H11N5/c1-9(2)4(7)8-3(5)6/h1-2H3,(H5,5,6,7,8)/f/h5,7-8H,6H2 InChI=1S/C4H11N5/c1-9(2)4(7)8-3(5)6/h1-2H3,(H5,5,6,7,8) InChIKey=XZWYZXLIPXDOLR-UHFFFAOYSA-N InChIKey=XZWYZXLIPXDOLR-WXQAPKLBCT KEGG COMPOUND:657-24-9 KEGG COMPOUND:C07151 Metformin N,N-dimethylimidodicarbonimidic diamide Wikipedia:Metformin http://www.ebi.ac.uk/efo/EFO_0001570 true methamphetamine (+)-(S)-N-alpha-dimethylphenethylamine (2S)-N-methyl-1-phenylpropan-2-amine (S)-N,alpha-dimethylbenzeneethanamine (alphaS)-N,alpha-dimethylbenzeneethanamine Beilstein:2207147 C10H15N CN[C@@H](C)Cc1ccccc1 ChEMBL:775152 ChemIDplus:537-46-2 Class imported / merged by efoimporter InChI=1S/C10H15N/c1-9(11-2)8-10-6-4-3-5-7-10/h3-7,9,11H,8H2,1-2H3/t9-/m0/s1 InChIKey=MYWUZJCMWCOHBA-VIFPVBQESA-N KEGG COMPOUND:537-46-2 KEGG COMPOUND:C07164 Methamphetamine NIST Chemistry WebBook:537-46-2 Wikipedia:Methamphetamine d-1-phenyl-2-methylaminopropane d-N-methylamphetamine d-deoxyephedrine d-desoxyephedrine d-phenylisopropylmethylamine http://www.ebi.ac.uk/efo/EFO_0001571 methyl-beta-phenylisopropylamine methapyrilene 2-[[2-(dimethylamino)ethyl]-2-thenylamino]pyridine 23278 3278 91-80-5 A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath. A radiolabelled urea molecule used to diagnose stomach ulcers caused by Heliobacter pylori. In the presence of H. pylori, urea C-14 is metabolized by urease to produce ammonia and radioactive carbon dioxide at the interface between the gastric epithelium and lumen. The radioactive carbon dioxide is absorbed in the blood and is detected when exhaled in the breath.[accessedResource: C14H19N3S][accessDate: 05-04-2011] An ethylenediamine derivative that has formula C14H19N3S. C14 Urea C14 Urea[accessedResource: C14H19N3S][accessDate: 05-04-2011] C14H19N3S C14H19N3S CN(C)CCN(Cc1cccs1)c1ccccn1 Histadyl InChI=1/C14H19N3S/c1-16(2)9-10-17(12-13-6-5-11-18-13)14-7-3-4-8-15-14/h3-8,11H,9-10,12H2,1-2H3 InChIKey=HNJJXZKZRAWDPF-UHFFFAOYAC Lullamin N,N-dimethyl-N'-pyrid-2-yl-N'-2-thenylethylenediamine N,N-dimethyl-N'-pyridin-2-yl-N'-(2-thienylmethyl)ethane-1,2-diamine N,N-dimethyl-N'-pyridin-2-yl-N'-(2-thienylmethyl)ethane-1,2-diamine N,N-dimethyl-N'-pyridin-2-yl-N'-[(thiophen-2-yl)methyl]ethane-1,2-diamine N-(alpha-pyridyl)-N-(alpha-thenyl)-N',N'-dimethylethylenediamine Pyrathyn Pytest Pytest[accessedResource: C14H19N3S][accessDate: 05-04-2011] UREA, C-14 UREA, C-14[accessedResource: C14H19N3S][accessDate: 05-04-2011] Urea C-14 Urea C-14[accessedResource: C14H19N3S][accessDate: 05-04-2011] methypyrilene thenylpyramine methoxychlor 1,1'-(2,2,2-trichloroethane-1,1-diyl)bis(4-methoxybenzene) 1,1'-(2,2,2-trichloroethane-1,1-diyl)bis[4-(methyloxy)benzene] 1,1,1-trichloro-2,2-bis(p-anisyl)ethane 1,1,1-trichloro-2,2-bis(p-methoxyphenyl)ethane 1,1,1-trichloro-2,2-di(4-methoxyphenyl)ethane 2,2-bis(p-anisyl)-1,1,1-trichloroethane 2,2-bis(p-methoxyphenyl)-1,1,1-trichloroethane 2,2-di(p-methoxyphenyl)-1,1,1-trichloroethane 20827 4A's Treatment Protocol 4As Treatment Protocol 4As Treatment Strategy 72-43-5 827 A smoking cessation strategy recommended by the National Cancer Institute. The first 'A' is to ask patients about their smoking status at every visit and record this information. The second 'A' is to advise smokers to quit. The third 'A' is to assist patients' cessation attempts where possible by helping them to set a quit date, providing self-help materials, prescribing pharmacological treatment, and recommending counseling. The final 'A' is to arrange follow-up contact. (from Medscape) Acoustic Acoustic[accessedResource: C16H15Cl3O2][accessDate: 05-04-2011] An organochlorine insecticide that has formula C16H15Cl3O2. C16H15Cl3O2 C16H15Cl3O2 COc1ccc(cc1)C(c1ccc(OC)cc1)C(Cl)(Cl)Cl InChI=1/C16H15Cl3O2/c1-20-13-7-3-11(4-8-13)15(16(17,18)19)12-5-9-14(21-2)10-6-12/h3-10,15H,1-2H3 InChIKey=IAKOZHOLGAGEJT-UHFFFAOYAO dimethoxy-DDT methoxy-DDT p,p'-methoxychlor 6alpha-methylprednisolone (6alpha,11beta)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione 1-dehydro-6alpha-methylhydrocortisone 11beta,17,21-trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione 6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione Beilstein:2340300 C22H30O5 ChEMBL:127575 ChemIDplus:83-43-2 Class imported / merged by efoimporter Delta(1)-6alpha-methylhydrocortisone DrugBank:DB00959 InChI=1S/C22H30O5/c1-12-8-14-15-5-7-22(27,18(26)11-23)21(15,3)10-17(25)19(14)20(2)6-4-13(24)9-16(12)20/h4,6,9,12,14-15,17,19,23,25,27H,5,7-8,10-11H2,1-3H3/t12-,14-,15-,17-,19+,20-,21-,22-/m0/s1 InChIKey=VHRSUDSXCMQTMA-PJHHCJLFSA-N James Malone KEGG DRUG:D00407 Medrate Medrol Medrone Methylprednisolon NIST Chemistry WebBook:83-43-2 Patent:US2897218 Patent:US3053832 Solomet Urbason Wikipedia:Methylprednisolone [H][C@@]12C[C@H](C)C3=CC(=O)C=C[C@]3(C)[C@@]1([H])[C@@H](O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO http://www.ebi.ac.uk/efo/EFO_0001475 methylprednisolone methylprednisolonum metilprednisolona metoprolol (H115D)VHL35 (H115D)VHL35 Peptide (RS)-Metoprolol 1-(isopropylamino)-3-[4-(2-methoxyethyl)phenoxy]propan-2-ol 1-[(1-methylethyl)amino]-3-({4-[2-(methyloxy)ethyl]phenyl}oxy)propan-2-ol 23309 3-[4-(2-methoxyethyl)phenoxy]-1-(propan-2-ylamino)propan-2-ol 3309 51384-51-1 A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04) A propanolamine that has formula C15H25NO3. C15H25NO3 C15H25NO3 C15[accessedResource: C15H25NO3][accessDate: 05-04-2011] COCCc1ccc(OCC(O)CNC(C)C)cc1 Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse. Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H25NO3][accessDate: 05-04-2011] InChI=1/C15H25NO3/c1-12(2)16-10-14(17)11-19-15-6-4-13(5-7-15)8-9-18-3/h4-7,12,14,16-17H,8-11H2,1-3H3 InChIKey=IUBSYMUCCVWXPE-UHFFFAOYAN Onzin Onzin[accessedResource: C15H25NO3][accessDate: 05-04-2011] PLAC8 wt Allele PLAC8 wt Allele[accessedResource: C15H25NO3][accessDate: 05-04-2011] Placenta-Specific 8 wt Allele Placenta-Specific 8 wt Allele[accessedResource: C15H25NO3][accessDate: 05-04-2011] alpha-methyl-L-tyrosine (-)-alpha-Methyl-L-tyrosine (S)-alpha-Methyltyrosine C10H13NO3 C[C@](N)(Cc1ccc(O)cc1)C(O)=O ChEMBL:774813 ChemIDplus:672-87-7 Class imported / merged by efoimporter DrugBank:DB00765 Ele Holloway InChI=1S/C10H13NO3/c1-10(11,9(13)14)6-7-2-4-8(12)5-3-7/h2-5,12H,6,11H2,1H3,(H,13,14)/t10-/m0/s1 InChIKey=NHTGHBARYWONDQ-JTQLQIEISA-N James Malone KEGG COMPOUND:672-87-7 KEGG COMPOUND:C07921 KEGG DRUG:D00762 L-alpha-Methyltyrosine Methyltyrosine Metyrosine Reaxys:2368400 Tomasz Adamusiak Wikipedia:Metirosine alpha-Methyltyrosine alpha-methyl-L-p-tyrosine alpha-methyl-L-tyrosine alpha-methyl-p-tyrosine alpha-methyl-para-tyrosine http://www.ebi.ac.uk/efo/EFO_0003255 metirosina metirosine metirosinum mexiletine (+-)-1-(2,6-dimethylphenoxy)propan-2-amine (2RS)-1-(2,6-dimethylphenoxy)-2-aminopropane 1-(2',6'-dimethylphenoxy)-2-aminopropane 1-(2,6-dimethylphenoxy)-2-propanamine 1-(2,6-dimethylphenoxy)propan-2-amine 1-methyl-2-(2,6-xylyloxy)ethanamine C11H17NO CC(N)COc1c(C)cccc1C ChemIDplus:31828-71-4 Class imported / merged by efoimporter DrugBank:DB00379 InChI=1S/C11H17NO/c1-8-5-4-6-9(2)11(8)13-7-10(3)12/h4-6,10H,7,12H2,1-3H3 InChIKey=VLPIATFUUWWMKC-UHFFFAOYSA-N KEGG COMPOUND:31828-71-4 KEGG COMPOUND:C07220 KEGG DRUG:D08215 Mexiletine NIST Chemistry WebBook:31828-71-4 Patent:FR1551055 Patent:US3954872 Reaxys:2092205 Wikipedia:Mexiletine mexiletina mexiletine mexiletinum miconazole 1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole 1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole 1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole 1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole 22916-47-8 23319 An imidazole antifungal agent, commonly applied topically (to the skin) or mucus membranes to cure fungal infections. It inhibits the synthesis of ergosterol, a critical component of fungal cell membranes. C18H14Cl4N2O Clc1ccc(COC(Cn2ccnc2)c2ccc(Cl)cc2Cl)c(Cl)c1 Daktarin IV EFABP EFABP[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011] Epidermal Fatty Acid-Binding Protein Epidermal Fatty Acid-Binding Protein[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011] Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI) Expressed in keratinocytes by human FABP5 Gene (FABP Family), highly conserved 135-aa 15-kDa cytoplasmic Fatty Acid Binding Protein 5 binds long-chain fatty acids with high specificity, and other hydrophobic ligands. Likely involved in fatty acid uptake, transport, or metabolism and in keratinocyte differentiation, FABP5 has highest affinity for C18 chain lengths and decreasing affinity for decreasing chain lengths or chains with double bonds. (NCI)[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011] FABP5 FABP5[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011] Fatty Acid Binding Protein 5 Fatty Acid Binding Protein 5[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011] InChI=1/C18H14Cl4N2O/c19-13-2-1-12(16(21)7-13)10-25-18(9-24-6-5-23-11-24)15-4-3-14(20)8-17(15)22/h1-8,11,18H,9-10H2 InChIKey=BYBLEWFAAKGYCD-UHFFFAOYAA Monistat IV (TN) PAFABP PAFABP[accessedResource: C18H14Cl4N2O][accessDate: 05-04-2011] monocrotaline (13-alpha,14-alpha)-14,19-Dihydro-12,13-dihydroxy-20-norcrotalanan-11,15-dione (3R,4R,5R,13aR,13bR)-4,5-dihydroxy-3,4,5-trimethyl-4,5,8,10,12,13,13a,13b-octahydro-2H-[1,6]dioxacycloundecino[2,3,4-gh]pyrrolizine-2,6(3H)-dione C16H23NO6 ChEMBL:544875 ChemIDplus:315-22-0 Class imported / merged by efoimporter InChI=1S/C16H23NO6/c1-9-13(18)23-11-5-7-17-6-4-10(12(11)17)8-22-14(19)16(3,21)15(9,2)20/h4,9,11-12,20-21H,5-8H2,1-3H3/t9-,11+,12+,15+,16-/m0/s1 InChIKey=QVCMHGGNRFRMAD-XFGHUUIASA-N KEGG COMPOUND:315-22-0 KEGG COMPOUND:C10350 Monocrotaline Retronecine cyclic 2,3-dihydroxy-2,3,4-trimethylglutarate Testosterone oenanthate [H][C@]12CCN3CC=C(COC(=O)[C@](C)(O)[C@](C)(O)[C@@H](C)C(=O)O1)[C@]23[H] myoglobin COMe:PRX000322 KEGG COMPOUND:C05782 Myoglobin true vertebrate myoglobin N-methylformamide A formamide compound having an N-methyl substituent. C2H5NO CHEBI_7438 Ele Holloway HCONHCH3 InChI=1/C2H5NO/c1-3-2-4/h2H,1H3,(H,3,4)/f/h3H InChIKey=ATHHXGZTWNVVOU-TULZNQERCH Methylformamide Monomethylformamide N-Methyl-formamide N-Monomethylformamide NMF Tomasz Adamusiak [H]C(=O)NC http://www.ebi.ac.uk/efo/EFO_0002732 nandrolone (17beta)-17-hydroxyestr-4-en-3-one 17beta-hydroxy-19-nor-4-androsten-3-one 17beta-hydroxy-4-estren-3-one 17beta-hydroxyestr-4-en-3-one 19-Norandrostenolone 19-Nortestosterone 4-estren-17beta-ol-3-one 434-22-0 InChI=1/C18H26O2/c1-18-9-8-14-13-5-3-12(19)10-11(13)2-4-15(14)16(18)6-7-17(18)20/h10,13-17,20H,2-9H2,1H3/t13-,14+,15+,16-,17-,18-/m0/s1 InChIKey=NPAGDVCDWIYMMC-IZPLOLCNBQ [H][C@]12CCC(=O)C=C1CC[C@]1([H])[C@]2([H])CC[C@]2(C)[C@@H](O)CC[C@@]12[H] naproxen (+)-(S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid (+)-(S)-Naproxen (+)-2-(6-Methoxy-2-naphthyl)propionic acid (+)-2-(Methoxy-2-naphthyl)-propionic acid (+)-2-(Methoxy-2-naphthyl)-propionsaeure (+)-Naproxen (2S)-2-(6-methoxynaphthalen-2-yl)propanoic acid (S)-(+)-2-(6-Methoxy-2-naphthyl)propionic acid (S)-(+)-Naproxen (S)-2-(6-Methoxy-2-naphthyl)propanoic acid (S)-2-(6-Methoxy-2-naphthyl)propionic acid (S)-6-Methoxy-alpha-methyl-2-naphthaleneacetic acid (S)-Naproxen Beilstein:3591067 C14H14O3 COc1ccc2cc(ccc2c1)[C@H](C)C(O)=O ChEMBL:151056 ChEMBL:9784154 ChemIDplus:22204-53-1 Class imported / merged by efoimporter DrugBank:DB00788 InChI=1S/C14H14O3/c1-9(14(15)16)10-3-4-12-8-13(17-2)6-5-11(12)7-10/h3-9H,1-2H3,(H,15,16)/t9-/m0/s1 InChIKey=CMWTZPSULFXXJA-VIFPVBQESA-N KEGG COMPOUND:22204-53-1 KEGG DRUG:D00118 Naproxen Patent:US3904682 Patent:US4009197 Wikipedia:Naproxen naproxen naproxene naproxeno naproxenum nifedipine 4-(2'-Nitrophenyl)-2,6-dimethyl-1,4-dihydropyridin-3,5-dicarbonsaeuredimethylester A dihydropyridine that has formula C17H18N2O6. Adalat Adapine C17H18N2O6 CHEBI_7565 COC(=O)C1=C(C)NC(C)=C(C1c1ccccc1[N+]([O-])=O)C(=O)OC Coracten InChI=1/C17H18N2O6/c1-9-13(16(20)24-3)15(14(10(2)18-9)17(21)25-4)11-7-5-6-8-12(11)19(22)23/h5-8,15,18H,1-4H3 InChIKey=HYIMSNHJOBLJNT-UHFFFAOYAE Nifecard Nifecor Nifedipres Procardia dimethyl 2,6-dimethyl-4-(2-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate http://www.ebi.ac.uk/efo/EFO_0001578 nifedipino nifedipinum nimodipine 2,6-dimethyl-4-(3'-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylic acid 3-beta-methoxyethyl ester 5-isopropyl ester 2-methoxyethyl propan-2-yl 2,6-dimethyl-4-(3-nitrophenyl)-1,4-dihydropyridine-3,5-dicarboxylate BAY e 9736 C21H26N2O7 COCCOC(=O)C1=C(C)NC(C)=C(C1c1cccc(c1)[N+]([O-])=O)C(=O)OC(C)C ChEMBL:465248 ChemIDplus:66085-59-4 CiteXplore:12137606 CiteXplore:16180362 CiteXplore:17110283 CiteXplore:21869451 CiteXplore:22262041 CiteXplore:22300914 CiteXplore:8519001 Class imported / merged by efoimporter DrugBank:DB00393 Ele Holloway InChI=1S/C21H26N2O7/c1-12(2)30-21(25)18-14(4)22-13(3)17(20(24)29-10-9-28-5)19(18)15-7-6-8-16(11-15)23(26)27/h6-8,11-12,19,22H,9-10H2,1-5H3 InChIKey=UIAGMCDKSXEBJQ-UHFFFAOYSA-N James Malone KEGG COMPOUND:66085-59-4 KEGG COMPOUND:C07267 KEGG DRUG:D00438 NIST Chemistry WebBook:66085-59-4 Nimodipine Nimotop Patent:DE2117571 Patent:US3799934 Periplum Reaxys:459792 Tomasz Adamusiak Wikipedia:Nimodipine http://www.ebi.ac.uk/efo/EFO_0003226 isopropyl 2-methoxyethyl 1,4-dihydro-2,6-dimethyl-4-(3-nitrophenyl)-3,5-pyridinedicarboxylate isopropyl 2-methoxyethyl 1,4-dihydro-2,6-dimethyl-4-(m-nitrophenyl)-3,5-pyridinedicarboxylate nimodipine nimodipino nimodipinum nitrofurantoin Class imported / merged by efoimporter ochratoxin A (-)-N-((5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenylalanine (R)-N-((5-chloro-3,4-dihydro-8-hydroxy-3-methyl-1-oxo-1H-2-benzopyran-7-yl)carbonyl)phenylalanine A phenylalanine derivative that has formula C20H18ClNO6. C20H18ClNO6 CHEBI_7719 C[C@@H]1Cc2c(Cl)cc(C(=O)N[C@@H](Cc3ccccc3)C(O)=O)c(O)c2C(=O)O1 C[C@@H]1Cc2c(Cl)cc(cc2C(=O)O1)C(=O)N[C@@H](Cc1ccccc1)C(O)=O InChI=1/C20H18ClNO5/c1-11-7-14-15(20(26)27-11)9-13(10-16(14)21)18(23)22-17(19(24)25)8-12-5-3-2-4-6-12/h2-6,9-11,17H,7-8H2,1H3,(H,22,23)(H,24,25)/t11-,17+/m1/s1/f/h22,24H InChI=1/C20H18ClNO6/c1-10-7-12-14(21)9-13(17(23)16(12)20(27)28-10)18(24)22-15(19(25)26)8-11-5-3-2-4-6-11/h2-6,9-10,15,23H,7-8H2,1H3,(H,22,24)(H,25,26)/t10-,15+/m1/s1/f/h22,25H InChIKey=RWQKHEORZBHNRI-RKENYTOSDR InChIKey=SXHXNWAJMDYKPB-CEHVPASVDA James Malone N-(((3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-7-isochromanyl)carbonyl)-3-phenyl-L-alanine N-{[(3R)-5-chloro-8-hydroxy-3-methyl-1-oxo-3,4-dihydro-1H-2-benzopyran-7-yl]carbonyl}-L-phenylalanine http://www.ebi.ac.uk/efo/EFO_0001584 olanzapine 2-methyl-4-(4-methylpiperazin-1-yl)-10H-thieno[2,3-b][1,5]benzodiazepine A benzodiazepine that has formula C17H20N4S. C17H20N4S CN1CCN(CC1)C2=Nc3ccccc3Nc4sc(C)cc24 InChI=1/C17H20N4S/c1-12-11-13-16(21-9-7-20(2)8-10-21)18-14-5-3-4-6-15(14)19-17(13)22-12/h3-6,11,19H,7-10H2,1-2H3 InChIKey=KVWDHTXUZHCGIO-UHFFFAOYAQ James Malone Zyprexa olanzapina olanzapinum omeprazole 5-methoxy-2-{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl}-1H-benzimidazole Antra Audazol Beilstein:3628192 Belmazol C17H19N3O3S COc1ccc2[nH]c(nc2c1)S(=O)Cc1ncc(C)c(OC)c1C Ceprandal ChEMBL:519601 ChemIDplus:73590-58-6 CiteXplore:11060758 CiteXplore:11208500 CiteXplore:11210716 CiteXplore:11304936 CiteXplore:11321383 CiteXplore:11395292 CiteXplore:11404722 CiteXplore:11459434 CiteXplore:11568514 CiteXplore:11700946 CiteXplore:11774962 CiteXplore:11807212 CiteXplore:11851112 CiteXplore:11903739 CiteXplore:11962536 CiteXplore:12072663 CiteXplore:12135028 CiteXplore:12235248 CiteXplore:12495367 CiteXplore:12683615 CiteXplore:13680386 CiteXplore:14616415 CiteXplore:14708212 CiteXplore:14725575 CiteXplore:15004262 CiteXplore:15125696 CiteXplore:15586641 CiteXplore:15598025 CiteXplore:15684503 CiteXplore:15707461 CiteXplore:15774534 CiteXplore:16080278 CiteXplore:16129922 CiteXplore:16259581 CiteXplore:16276979 CiteXplore:16380990 CiteXplore:16386527 CiteXplore:16397810 CiteXplore:16440530 CiteXplore:16998872 CiteXplore:17049542 CiteXplore:17384694 CiteXplore:17532167 CiteXplore:18294333 CiteXplore:18366242 CiteXplore:18416943 CiteXplore:18448060 CiteXplore:18498918 CiteXplore:18520598 CiteXplore:18571645 CiteXplore:18616070 CiteXplore:18793272 CiteXplore:18818790 CiteXplore:19150046 CiteXplore:19166730 CiteXplore:19176055 CiteXplore:19236757 CiteXplore:19327607 CiteXplore:19383986 CiteXplore:19434360 CiteXplore:19470853 CiteXplore:19517893 CiteXplore:19746659 CiteXplore:19796313 CiteXplore:19801857 CiteXplore:19937171 Class imported / merged by efoimporter Danlox Desec DrugBank:DB00338 Elgam Emeproton Gasec Gastrimut InChI=1S/C17H19N3O3S/c1-10-8-18-15(11(2)16(10)23-4)9-24(21)17-19-13-6-5-12(22-3)7-14(13)20-17/h5-8H,9H2,1-4H3,(H,19,20) InChIKey=SUBDBMMJDZJVOS-UHFFFAOYSA-N Indurgan Inhibitron KEGG COMPOUND:C07324 KEGG DRUG:D00455 Losec OMEP OMP OMZ Olit Omapren Omebeta Patent:EP5129 Patent:US4255431 Patent:US5693818 Prazidec Procelac Reaxys:3628192 Sanamidol Ulceral Ulcesep Ultop Wikipedia:Omeprazole omeprazol omeprazole omeprazolum oseltamivir 1-Cyclohexene-1-carboxylic acid, 4-(acetylamino)-5-amino-3-(1-ethylpropoxy)-, ethyl ester, (3R-(3alpha,4beta,5alpha))- 196618-13-0 A cyclohexenecarboxylate ester that has formula C16H28N2O4. Agucort C16H28N2O4 CCOC(=O)C1=C[C@@H](OC(CC)CC)[C@H](NC(C)=O)[C@@H](N)C1 Ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(1-ethylpropoxy)-1-cyclohexene-1-carboxylate GS-4104 HSDB 7433 InChI=1/C16H28N2O4/c1-5-12(6-2)22-14-9-11(16(20)21-7-3)8-13(17)15(14)18-10(4)19/h9,12-15H,5-8,17H2,1-4H3,(H,18,19)/t13-,14+,15+/m0/s1/f/h18H InChIKey=VSZGPKBBMSAYNT-HRPFSUSRDU ethyl (3R,4R,5S)-4-acetamido-5-amino-3-(pentan-3-yloxy)cyclohex-1-ene-1-carboxylate oseltamivirum oxazepam (H115D)VHL35 (H115D)VHL35 Peptide (RS)-Oxazepam 1087 21087 604-75-1 7-chloro-3-hydroxy-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one 7-chloro-3-hydroxy-5-phenyl-1,3-dihydro-2H-1,4-benzodiazepin-2-one A 1,4-benzodiazepinone that has formula C15H11ClN2O2. A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04) C15H11ClN2O2 C15H11ClN2O2 C15[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011] Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse. Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011] InChI=1/C15H11ClN2O2/c16-10-6-7-12-11(8-10)13(9-4-2-1-3-5-9)18-15(20)14(19)17-12/h1-8,15,20H,(H,17,19)/f/h17H InChIKey=ADIMAYPTOBDMTL-HCKMINDGCL OC1N=C(c2ccccc2)c2cc(Cl)ccc2NC1=O Onzin Onzin[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011] PLAC8 wt Allele PLAC8 wt Allele[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011] Placenta-Specific 8 wt Allele Placenta-Specific 8 wt Allele[accessedResource: C15H11ClN2O2][accessDate: 05-04-2011] Serax Tazepam paroxetine (-)-(3S,4R)-4-(p-fluorophenyl)-3-((3,4-(methylenedioxy)phenoxy)methyl)piperidine (3S,4R)-3-[(1,3-benzodioxol-5-yloxy)methyl]-4-(4-fluorophenyl)piperidine (3S-trans)-3-((1,3-benzodioxol-5-yloxy)methyl)-4-(4-fluorophenyl)piperidine Beilstein:7467879 C19H20FNO3 ChEMBL:106643 ChemIDplus:61869-08-7 CiteXplore:11009210 CiteXplore:11169163 CiteXplore:11271409 CiteXplore:11281965 CiteXplore:11324355 CiteXplore:11360029 CiteXplore:11513198 CiteXplore:11563413 CiteXplore:11565622 CiteXplore:11819027 CiteXplore:11893234 CiteXplore:11910269 CiteXplore:12027788 CiteXplore:12088162 CiteXplore:12369443 CiteXplore:12421645 CiteXplore:12818234 CiteXplore:12820211 CiteXplore:12906023 CiteXplore:12920419 CiteXplore:14516531 CiteXplore:14521492 CiteXplore:14566196 CiteXplore:14566200 CiteXplore:14619895 CiteXplore:14624192 CiteXplore:14673053 CiteXplore:14689334 CiteXplore:14978354 CiteXplore:15048901 CiteXplore:15199661 CiteXplore:15241233 CiteXplore:15264994 CiteXplore:15374134 CiteXplore:15376524 CiteXplore:15544025 CiteXplore:15613191 CiteXplore:15845695 CiteXplore:15853570 CiteXplore:15903129 CiteXplore:15963219 CiteXplore:15992089 CiteXplore:16395417 CiteXplore:16397315 CiteXplore:16426087 CiteXplore:16765127 CiteXplore:16822276 CiteXplore:16913391 CiteXplore:17122538 CiteXplore:17162096 CiteXplore:17219219 CiteXplore:17286545 CiteXplore:17452166 CiteXplore:17559097 CiteXplore:17612590 CiteXplore:17652957 CiteXplore:17874333 CiteXplore:18273418 CiteXplore:18345955 CiteXplore:18808757 CiteXplore:18983224 CiteXplore:19687003 CiteXplore:19851065 CiteXplore:21404089 CiteXplore:21452176 CiteXplore:21739267 CiteXplore:21908494 CiteXplore:21909633 CiteXplore:21922171 CiteXplore:21939725 CiteXplore:22153922 CiteXplore:22198456 CiteXplore:22212003 CiteXplore:22240860 CiteXplore:22263916 CiteXplore:22283559 CiteXplore:22353759 CiteXplore:22377745 Class imported / merged by efoimporter DrugBank:DB00715 InChI=1S/C19H20FNO3/c20-15-3-1-13(2-4-15)17-7-8-21-10-14(17)11-22-16-5-6-18-19(9-16)24-12-23-18/h1-6,9,14,17,21H,7-8,10-12H2/t14-,17-/m0/s1 InChIKey=AHOUBRCZNHFOSL-YOEHRIQHSA-N KEGG COMPOUND:61869-08-7 KEGG COMPOUND:C07415 KEGG DRUG:D02362 Paroxetine Reaxys:7467879 Wikipedia:Paroxetine [H][C@]1(CCNC[C@H]1COc1ccc2OCOc2c1)c1ccc(F)cc1 paroxetina paroxetinum parthenolide (1aR,4E,7aS,10aS,10bR)-1a,5-dimethyl-8-methylidene-2,3,6,7,7a,8,10a,10b-octahydrooxireno[9,10]cyclodeca[1,2-b]furan-9(1aH)-one (1aR,7aS,10aS,10bS)-1a,5-dimethyl-8-methylidene-2,3,6,7,7a,8,10a,10b-octahydrooxireno[9,10]cyclodeca[1,2-b]furan-9(1aH)-one (H115D)VHL35 (H115D)VHL35 Peptide 20554-84-1 4,5-alpha-Epoxy-6-beta-hydroxygermacra-1(10),11(13)-dien-12-oic acid gamma-lactone 40579 A peptide vaccine derived from the von Hippel-Lindau (VHL) tumor suppressor protein, a general transcription factor. In (H115D)VHL35 peptide, histidine is substituted for an aspartic acid in position 115. It might be used to elicit or boost cellular immunity to cancers that expressing the von Hippel-Lindau mutation. (NCI04) A sesquiterpene lactone and active principle of feverfew. C15H20O3 C15H20O3 C15[accessedResource: C15H20O3][accessDate: 05-04-2011] Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse. Human PLAC8 wild-type allele is located in the vicinity of 4q21.22 and is approximately 24 kb in length. This allele, which encodes placenta-specific gene 8 protein, may play a role in the modulation of dendritic cell activity. Aberrant expression of the gene may be involved in leukemia relapse.[accessedResource: C15H20O3][accessDate: 05-04-2011] InChI=1/C15H20O3/c1-9-5-4-8-15(3)13(18-15)12-11(7-6-9)10(2)14(16)17-12/h5,11-13H,2,4,6-8H2,1,3H3/b9-5+/t11-,12-,13+,15+/m0/s1 InChIKey=KTEXNACQROZXEV-PVLRGYAZBM Onzin Onzin[accessedResource: C15H20O3][accessDate: 05-04-2011] PLAC8 wt Allele PLAC8 wt Allele[accessedResource: C15H20O3][accessDate: 05-04-2011] Placenta-Specific 8 wt Allele Placenta-Specific 8 wt Allele[accessedResource: C15H20O3][accessDate: 05-04-2011] [H][C@@]12CC\\C(C)=C\\CC[C@@]3(C)O[C@]3([H])[C@@]1([H])OC(=O)C2=C D-penicillamine (-)-penicillamine (2S)-2-amino-3-methyl-3-sulfanylbutanoic acid (S)-2-amino-3-mercapto-3-methylbutanoic acid (S)-3,3-dimethylcysteine 3-mercapto-D-valine 3-sulfanyl-D-valine Beilstein:1722375 C5H11NO2S CC(C)(S)[C@@H](N)C(O)=O ChemIDplus:52-67-5 CiteXplore:10408968 CiteXplore:1709917 CiteXplore:2420897 Class imported / merged by efoimporter Cuprimine D-(-)-penicillamine D-Penamine D-beta,beta-dimethylcysteine Depen DrugBank:DB00859 Ele Holloway InChI=1S/C5H11NO2S/c1-5(2,9)3(6)4(7)8/h3,9H,6H2,1-2H3,(H,7,8)/t3-/m0/s1 InChIKey=VVNCNSJFMMFHPL-VKHMYHEASA-N KEGG COMPOUND:52-67-5 KEGG COMPOUND:C07418 KEGG DRUG:D00496 NIST Chemistry WebBook:52-67-5 PA Reaxys:1722375 Tomasz Adamusiak Wikipedia:Penicillamine http://www.ebi.ac.uk/efo/EFO_0002726 penicilamina penicillamine penicillaminum pergolide mesylate (8beta)-8-[(methylsulfanyl)methyl]-6-propylergolin-6-ium methanesulfonate (8beta)-8-[(methylsulfanyl)methyl]-6-propylergoline methanesulfonate C20H30N2O3S2 CS(O)(=O)=O.[H][C@@]12Cc3c[nH]c4cccc(c34)[C@@]1([H])C[C@@H](CSC)CN2CCC ChEMBL:349814 ChemIDplus:66104-23-2 CiteXplore:6889702 CiteXplore:8748627 Class imported / merged by efoimporter DrugBank:DB01186 Ele Holloway InChI=1S/C19H26N2S.CH4O3S/c1-3-7-21-11-13(12-22-2)8-16-15-5-4-6-17-19(15)14(10-20-17)9-18(16)21;1-5(2,3)4/h4-6,10,13,16,18,20H,3,7-9,11-12H2,1-2H3;1H3,(H,2,3,4)/t13-,16-,18-;/m1./s1 InChIKey=UWCVGPLTGZWHGS-ZORIOUSZSA-N James Malone KEGG DRUG:66104-23-2 KEGG DRUG:D00502 Pergolide mesilate Permax Reaxys:5698117 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003171 pergolide methanesulfonate pergolide monomesylate pergolide monomethanesulfonate perphenazine 2-(4-[3-(2-chloro-10H-phenothiazin-10-yl)propyl]-1-piperazinyl)ethanol 2-chloro-10-(3-(4-(2-hydroxyethyl)piperazin-1-yl)propyl)phenothiazine 2-{4-[3-(2-chloro-10H-phenothiazin-10-yl)propyl]piperazin-1-yl}ethanol 4-[3-(2-chloro-10H-phenothiazin-10-yl)propyl]-1-piperazineethanol 4-[3-(2-chlorophenothiazin-10-yl)propyl]-1-piperazineethanol Beilstein:54730 C21H26ClN3OS ChemIDplus:58-39-9 Chlorpiprazine CiteXplore:1650428 DrugBank:DB00850 InChI=1S/C21H26ClN3OS/c22-17-6-7-21-19(16-17)25(18-4-1-2-5-20(18)27-21)9-3-8-23-10-12-24(13-11-23)14-15-26/h1-2,4-7,16,26H,3,8-15H2 InChIKey=RGCVKNLCSQQDEP-UHFFFAOYSA-N KEGG COMPOUND:58-39-9 KEGG COMPOUND:C07427 KEGG DRUG:D00503 NIST Chemistry WebBook:58-39-9 OCCN1CCN(CCCN2c3ccccc3Sc3ccc(Cl)cc23)CC1 Patent:US2766235 Patent:US2860138 Perfenazine Perphenazin Perphenazine Trilafon Wikipedia:Perphenazine gamma-(4-(beta-hydroxyethyl)piperazin-1-yl)propyl-2-chlorophenothiazine perfenazina perphenazinum true phenacetin 1-Acetamido-4-ethoxybenzene 4-Ethoxyacetanilide Acetophenetidin Acetophenetidine Acetophenetin Acetphenetidin Achrocidin C10H13NO2 CCOc1ccc(NC(C)=O)cc1 ChEMBL:116498 ChemIDplus:62-44-2 Class imported / merged by efoimporter Codempiral Commotional Contradol Contradouleur DrugBank:DB03783 Fenacetina InChI=1S/C10H13NO2/c1-3-13-10-6-4-9(5-7-10)11-8(2)12/h4-7H,3H2,1-2H3,(H,11,12) InChIKey=CPJSUEIXXCENMM-UHFFFAOYSA-N KEGG COMPOUND:62-44-2 KEGG COMPOUND:C07591 KEGG DRUG:D00569 N-(4-ethoxyphenyl)acetamide NIST Chemistry WebBook:62-44-2 Patent:US2887513 Phenacetin Phenacetine Phenacetinum Reaxys:1869238 Wikipedia:Phenacetin phenacetin phenobarbital 5-Ethyl-5-phenyl-pyrimidine-2,4,6-trione 5-Ethyl-5-phenylbarbituric acid 5-Phenyl-5-ethylbarbituric acid 5-ethyl-5-phenyl-2,4,6(1H,3H,5H)-pyrimidinetrione 5-ethyl-5-phenylpyrimidine-2,4,6(1H,3H,5H)-trione A barbiturate that has formula C12H12N2O3. Barbituric acid substituted at C-5 by ethyl and phenyl groups. C12H12N2O3 CCC1(C(=O)NC(=O)NC1=O)c1ccccc1 CHEBI_8069 InChI=1/C12H12N2O3/c1-2-12(8-6-4-3-5-7-8)9(15)13-11(17)14-10(12)16/h3-7H,2H2,1H3,(H2,13,14,15,16,17)/f/h13-14H InChIKey=DDBREPKUVSBGFI-KGCNKATMCV James Malone Luminal PHENYLETHYLMALONYLUREA Phenobarbitol Phenobarbitone Phenobarbituric Acid Phenylaethylbarbitursaeure Phenylethylbarbiturate Phenylethylbarbituric Acid Phenylethylbarbitursaeure http://www.ebi.ac.uk/efo/EFO_0001591 phenylephrine (-)-m-Hydroxy-alpha-(methylaminomethyl)benzyl alcohol 10-Deacetyltaxol 23465 3-[(1R)-1-hydroxy-2-(methylamino)ethyl]phenol 3-[(1R)-1-hydroxy-2-(methylamino)ethyl]phenol 3465 59-42-7 A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability. A series of reactions that result in formation of a pore, composed of complement proteins C5b, C6, C7, C8, and C9, in the membrane of a pathogenic cell. The pore allows free diffusion of molecules into and out of the cell and reduces cell viability.[accessedResource: C9H13NO2][accessDate: 05-04-2011] Activation of Membrane Attack Complex Activation of Membrane Attack Complex[accessedResource: C9H13NO2][accessDate: 05-04-2011] An analog of paclitaxel with antineoplastic activity. 10-Deacetyltaxol binds to and stabilizes the resulting microtubules, thereby inhibiting microtubule disassembly which results in cell- cycle arrest at the G2/M phase and apoptosis. Benzenemethanol, 3-hydroxy-.alpha.-[(methylamino)methyl]-, (R)- Benzyl alcohol, m-hydroxy-alpha-((methylamino)methyl)-, (-)- C9H13NO2 CNC[C@H](O)c1cccc(O)c1 InChI=1/C9H13NO2/c1-10-6-9(12)7-3-2-4-8(11)5-7/h2-5,9-12H,6H2,1H3/t9-/m0/s1 InChIKey=SONNWYBIRXJNDC-VIFPVBQEBB R(-)-Phenylephrine benzenepropanoic acid, beta-(benzoylamino)-alpha-hydroxy-, 12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester, (2aR-(2aalpha,4beta,4abeta,6beta,9alpha(alphaR*,betaS*),11alpha,12alpha,12aalpha,12balpha))- fenilefrina l-(3-Hydroxyphenyl)-N-methylethanolamine phenylephrinum phenytoin 5,5-Diphenyl-imidazolidine-2,4-dione 5,5-diphenylimidazolidine-2,4-dione 5,5-diphenyltetrahydro-1H-2,4-imidazoledione Beilstein:384532 C15H12N2O2 ChemIDplus:57-41-0 CiteXplore:7602118 Class imported / merged by efoimporter DILANTIN DrugBank:DB00252 InChI=1S/C15H12N2O2/c18-13-15(17-14(19)16-13,11-7-3-1-4-8-11)12-9-5-2-6-10-12/h1-10H,(H2,16,17,18,19) InChIKey=CXOFVDLJLONNDW-UHFFFAOYSA-N KEGG COMPOUND:57-41-0 KEGG COMPOUND:C07443 KEGG DRUG:D00512 O=C1NC(=O)C(N1)(c1ccccc1)c1ccccc1 PHENTYTOIN Wikipedia:Phenytoin pimozide 1,9-Nonanediol 1,9-Nonanediol[accessedResource: C28H29F2N3O][accessDate: 05-04-2011] 1-{1-[4,4-bis(4-fluorophenyl)butyl]piperidin-4-yl}-1,3-dihydro-2H-benzimidazol-2-one 1-{1-[4,4-bis(4-fluorophenyl)butyl]piperidin-4-yl}-1,3-dihydro-2H-benzimidazol-2-one 2062-78-4 23474 A heteroarylpiperidine that has formula C28H29F2N3O. An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04) An aliphatic alcohol (with nine carbon atoms and two hydroxyl groups at positions 1 and 9) used in chemical synthesis and biomedical research. 1,9-Nonanediol suppresses glycine currents in neurons; glycine is a major inhibitory neurotransmitter in the mature mammalian central nervous system. (NCI04)[accessedResource: C28H29F2N3O][accessDate: 05-04-2011] C28H29F2N3O C28H29F2N3O Fc1ccc(cc1)C(CCCN1CCC(CC1)n1c2ccccc2[nH]c1=O)c1ccc(F)cc1 Halomonth InChI=1/C28H29F2N3O/c29-22-11-7-20(8-12-22)25(21-9-13-23(30)14-10-21)4-3-17-32-18-15-24(16-19-32)33-27-6-2-1-5-26(27)31-28(33)34/h1-2,5-14,24-25H,3-4,15-19H2,(H,31,34)/f/h31H InChIKey=YVUQSNJEYSNKRX-VJSLDGLSCK Neoperidole Opiran Orap pimozida pimozidum pioglitazone (+-)-5-((4-(2-(5-ethyl-2-pyridinyl)ethoxy)phenyl)methyl)-2,4-thiazolidinedione 5-{4-[2-(5-ethylpyridin-2-yl)ethoxy]benzyl}-1,3-thiazolidine-2,4-dione A thiazolidenedione that has formula C19H20N2O3S. C19H20N2O3S CCc1ccc(CCOc2ccc(CC3SC(=O)NC3=O)cc2)nc1 CHEBI_8228 InChI=1/C19H20N2O3S/c1-2-13-3-6-15(20-12-13)9-10-24-16-7-4-14(5-8-16)11-17-18(22)21-19(23)25-17/h3-8,12,17H,2,9-11H2,1H3,(H,21,22,23)/f/h21H InChIKey=HYAFETHFCAUJAY-PKSOQXRJCR James Malone http://www.ebi.ac.uk/efo/EFO_0001592 pioglitazona pioglitazonum prazosin 1-(4-Amino-6,7-dimethoxy-2-quinazolinyl)-4-(2-furanylcarbonyl)piperazine 2-(4-(2-Furoyl)piperazin-1-yl)-4-amino-6,7-dimethoxyquinazoline 2-[4-(2-furoyl)piperazin-1-yl]-6,7-dimethoxyquinazolin-4-amine Beilstein:768345 C19H21N5O4 COc1cc2nc(nc(N)c2cc1OC)N1CCN(CC1)C(=O)c1ccco1 ChEMBL:100097 ChemIDplus:19216-56-9 Class imported / merged by efoimporter DrugBank:DB00457 InChI=1S/C19H21N5O4/c1-26-15-10-12-13(11-16(15)27-2)21-19(22-17(12)20)24-7-5-23(6-8-24)18(25)14-4-3-9-28-14/h3-4,9-11H,5-8H2,1-2H3,(H2,20,21,22) InChIKey=IENZQIKPVFGBNW-UHFFFAOYSA-N KEGG COMPOUND:C07368 Patent:GB1156973 Patent:NL7206067 Patent:US3511836 Wikipedia:Prazosin prazosin prazosina prazosine prazosinum prednisolone (11beta)-11,17,21-trihydroxypregna-1,4-diene-3,20-dione 1,4-pregnadiene-11beta,17alpha,21-triol-3,20-dione 11beta,17,21-trihydroxypregna-1,4-diene-3,20-dione 3,20-dioxo-11beta,17alpha,21-trihydroxy-1,4-pregnadiene A glucocorticoid that has formula C21H28O5. C21H28O5 CHEBI_8378 Delta(1)-dehydrocortisol Delta(1)-dehydrohydrocortisone Delta(1)-hydrocortisone InChI=1/C21H28O5/c1-19-7-5-13(23)9-12(19)3-4-14-15-6-8-21(26,17(25)11-22)20(15,2)10-16(24)18(14)19/h5,7,9,14-16,18,22,24,26H,3-4,6,8,10-11H2,1-2H3/t14-,15-,16-,18+,19-,20-,21-/m0/s1 InChIKey=OIGNJSKKLXVSLS-VWUMJDOOBF [H][C@@]12CCC3=CC(=O)C=C[C@]3(C)[C@@]1([H])[C@@H](O)C[C@@]1(C)[C@@]2([H])CC[C@]1(O)C(=O)CO http://www.ebi.ac.uk/efo/EFO_0001595 hydroretrocortine metacortandralone prochlorperazine 2-Chloro-10-(3-(1-methyl-4-piperazinyl)propyl)-phenothiazine 2-Chloro-10-(3-(4-methyl-1-piperazinyl)propyl)phenothiazine 2-chloro-10-[3-(4-methylpiperazin-1-yl)propyl]-10H-phenothiazine 3-Chloro-10-(3-(1-methyl-4-piperazinyl)propyl)phenothiazine 3-Chloro-10-(3-(4-methyl-1-piperazinyl)propyl)phenothiazine Beilstein:48537 C20H24ClN3S CN1CCN(CCCN2c3ccccc3Sc3ccc(Cl)cc23)CC1 ChEMBL:137266 ChemIDplus:58-38-8 Chloro-3 (N-methylpiperazinyl-3 propyl)-10 phenothiazine CiteXplore:1650428 Class imported / merged by efoimporter DrugBank:DB00433 InChI=1S/C20H24ClN3S/c1-22-11-13-23(14-12-22)9-4-10-24-17-5-2-3-6-19(17)25-20-8-7-16(21)15-18(20)24/h2-3,5-8,15H,4,9-14H2,1H3 InChIKey=WIKYUJGCLQQFNW-UHFFFAOYSA-N James Malone KEGG COMPOUND:C07403 KEGG DRUG:D00493 N-(gamma-(4'-Methylpiperazinyl-1')propyl)-3-chlorophenothiazine Patent:FR1167627 Patent:GB780193 Patent:US2902484 Prochlorperazin Prochlorperazine Prochlorpermazine Prochlorpromazine Procloperazine Wikipedia:Prochlorperazine http://www.ebi.ac.uk/efo/EFO_0001597 prochlorperazine prochlorperazinum proclorperazina promethazine (2-dimethylamino-2-methyl)ethyl-N-dibenzoparathiazine 10-(2-Dimethylaminopropyl)phenothiazine 10-[2-(dimethylamino)propyl]phenothiazine Beilstein:88554 C17H20N2S CC(CN1c2ccccc2Sc2ccccc12)N(C)C ChEMBL:127368 ChemIDplus:60-87-7 Class imported / merged by efoimporter DrugBank:DB01069 Gmelin:337077 InChI=1S/C17H20N2S/c1-13(18(2)3)12-19-14-8-4-6-10-16(14)20-17-11-7-5-9-15(17)19/h4-11,13H,12H2,1-3H3 InChIKey=PWWVAXIEGOYWEE-UHFFFAOYSA-N KEGG COMPOUND:60-87-7 KEGG COMPOUND:C07404 KEGG DRUG:D00494 N,N,alpha-trimethyl-10H-phenothiazine-10-ethanamine N,N-dimethyl-1-(10H-phenothiazin-10-yl)propan-2-amine N-(2'-dimethylamino-2'-methyl)ethylphenothiazine NIST Chemistry WebBook:60-87-7 Patent:US2530451 Patent:US2607773 Promethazine Reaxys:88554 Wikipedia:Promethazine proazamine prometazina promethazine promethazinum 6-propyl-2-thiouracil 2,3-dihydro-6-propyl-2-thioxo-4(1H)-pyrimidinone 2-Mercapto-6-propyl-4-pyrimidone 2-Mercapto-6-propylpyrimid-4-one 2-Thio-4-oxo-6-propyl-1,3-pyrimidine 2-Thio-6-propyl-1,3-pyrimidin-4-one 4-Propyl-2-thiouracil 4-propyl-2-thiouracil 6-Propyl-2-thio-2,4(1H,3H)pyrimidinedione 6-Propylthiouracil 6-Thio-4-propyluracil 6-propyl-2-sulfanylidene-2,3-dihydropyrimidin-4(1H)-one 6-propyl-2-thiouracil 6-propyl-2-thioxo-2,3-dihydropyrimidin-4(1H)-one Beilstein:130039 C7H10N2OS CCCc1cc(=O)[nH]c(=S)[nH]1 ChEMBL:521208 ChemIDplus:51-52-5 CiteXplore:11005705 CiteXplore:11036881 CiteXplore:11350963 CiteXplore:11401533 CiteXplore:12135875 CiteXplore:12922945 CiteXplore:14692727 CiteXplore:14745920 CiteXplore:16380675 CiteXplore:16498810 CiteXplore:16880639 CiteXplore:17365943 CiteXplore:17497002 CiteXplore:17878268 CiteXplore:18055877 CiteXplore:18710353 CiteXplore:19530273 CiteXplore:19578601 CiteXplore:20166204 CiteXplore:21749382 CiteXplore:6387489 Class imported / merged by efoimporter DrugBank:DB00550 Gmelin:1998546 InChI=1S/C7H10N2OS/c1-2-3-5-4-6(10)9-7(11)8-5/h4H,2-3H2,1H3,(H2,8,9,10,11) InChIKey=KNAHARQHSZJURB-UHFFFAOYSA-N KEGG COMPOUND:51-52-5 KEGG COMPOUND:C07569 KEGG DRUG:D00562 NIST Chemistry WebBook:51-52-5 Propylthiouracil Reaxys:130039 Wikipedia:Propylthiouracil propiltiouracilo propylthiouracil propylthiouracile propylthiouracilum quetiapine 111974-69-7 2-[2-(4-Dibenzo[b,f][1,4]thiazepin-11-yl-1-piperazinyl)ethoxy]ethanol 2-[2-(4-dibenzo[b,f][1,4]thiazepin-11-ylpiperazin-1-yl)ethoxy]ethanol 2-{[2-(4-dibenzo[b,f][1,4]thiazepin-11-ylpiperazin-1-yl)ethyl]oxy}ethanol 23546 3546 A dibenzothiazepine that has formula C21H25N3O2S. C21 C21H25N3O2S C21H25N3O2S C21[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] DC42 DC42[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] FLJ12894 FLJ12894[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia. Human TBL1XR1 wild-type allele is located in the vicinity of 3q26.32 and is approximately 186 kb in length. This allele, which encodes F-box-like/WD repeat-containing protein TBL1XR1, plays a role in activation of transcription. Genetic variation may be associated with the relapse of acute lymphoblastic leukemia.[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] IRA1 IRA1[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] InChI=1/C21H25N3O2S/c25-14-16-26-15-13-23-9-11-24(12-10-23)21-17-5-1-3-7-19(17)27-20-8-4-2-6-18(20)22-21/h1-8,25H,9-16H2 InChIKey=URKOMYMAXPYINW-UHFFFAOYAD OCCOCCN1CCN(CC1)C1=Nc2ccccc2Sc2ccccc12 TBL1XR1 wt Allele TBL1XR1 wt Allele[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] TBLR1 TBLR1[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele Transducin (Beta)-Like 1 X-Linked Receptor 1 wt Allele[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] Transducin (Beta)-Like 1X-Linked Receptor 1 Gene Transducin (Beta)-Like 1X-Linked Receptor 1 Gene[accessedResource: C21H25N3O2S][accessDate: 05-04-2011] quetiapina quetiapinum raloxifene (2-(4-Hydroxyphenyl)-6-hydroxybenzo(b)thien-3-yl)(4-(2-(1-piperidinyl)ethoxy)phenyl)methanone A benzothiophene that has formula C28H27NO4S. C28H27NO4S CHEBI_8772 InChI=1/C28H27NO4S/c30-21-8-4-20(5-9-21)28-26(24-13-10-22(31)18-25(24)34-28)27(32)19-6-11-23(12-7-19)33-17-16-29-14-2-1-3-15-29/h4-13,18,30-31H,1-3,14-17H2 InChIKey=GZUITABIAKMVPG-UHFFFAOYAG James Malone LY 139481 Oc1ccc(cc1)-c2sc3cc(O)ccc3c2C(=O)c4ccc(OCCN5CCCCC5)cc4 [6-hydroxy-2-(4-hydroxyphenyl)-1-benzothien-3-yl][4-(2-piperidin-1-ylethoxy)phenyl]methanone http://www.ebi.ac.uk/efo/EFO_0001601 raloxifeno raloxifenum ranitidine (E)-N-{2-[({5-[(dimethylamino)methyl]-2-furyl}methyl)sulfanyl]ethyl}-N'-methyl-2-nitroethene-1,1-diamine Beilstein:4327819 C13H22N4O3S CN\\C(NCCSCc1ccc(CN(C)C)o1)=C/[N+]([O-])=O ChEMBL:110685 ChemIDplus:66357-35-5 Class imported / merged by efoimporter DrugBank:DB00863 InChI=1S/C13H22N4O3S/c1-14-13(9-17(18)19)15-6-7-21-10-12-5-4-11(20-12)8-16(2)3/h4-5,9,14-15H,6-8,10H2,1-3H3/b13-9+ InChIKey=VMXUWOKSQNHOCA-UKTHLTGXSA-N KEGG DRUG:D00422 Patent:FR2384765 Patent:US4128658 Wikipedia:Ranitidine ranitidina ranitidine ranitidinum risperidone 3-{2-[4-(6-fluoro-1,2-benzisoxazol-3-yl)piperidin-1-yl]ethyl}-2-methyl-6,7,8,9-tetrahydro-4H-pyrido[1,2-a]pyrimidin-4-one Beilstein:4891881 C23H27FN4O2 Cc1nc2CCCCn2c(=O)c1CCN1CCC(CC1)c1noc2cc(F)ccc12 ChemIDplus:106266-06-2 DrugBank:DB00734 InChI=1S/C23H27FN4O2/c1-15-18(23(29)28-10-3-2-4-21(28)25-15)9-13-27-11-7-16(8-12-27)22-19-6-5-17(24)14-20(19)30-26-22/h5-6,14,16H,2-4,7-13H2,1H3 InChIKey=RAPZEAPATHNIPO-UHFFFAOYSA-N KEGG DRUG:106266-06-2 KEGG DRUG:D00426 Patent:EP196132 Patent:US4804663 Risperdal Risperin Rispolept Rispolin Sequinan Wikipedia:Risperidone risperidona risperidonum true rofecoxib 4-[4-(methylsulfonyl)phenyl]-3-phenyl-2(5H)-furanone 4-[4-(methylsulfonyl)phenyl]-3-phenylfuran-2(5H)-one A butenolide that has formula C17H14O4S. A sulfone that has formula C17H14O4S. C17H14O4S CHEBI_8887 CS(=O)(=O)c1ccc(cc1)C1=C(C(=O)OC1)c1ccccc1 Ceoxx InChI=1/C17H14O4S/c1-22(19,20)14-9-7-12(8-10-14)15-11-21-17(18)16(15)13-5-3-2-4-6-13/h2-10H,11H2,1H3 InChIKey=RZJQGNCSTQAWON-UHFFFAOYAR Vioxx http://www.ebi.ac.uk/efo/EFO_0001604 salmeterol (+-)-4-hydroxy-alpha(1)-[[[6-(4-phenylbutoxy)hexyl]amino]methyl]-m-xylene-alpha,alpha(1)-diol (+-)-salmeterol (RS)-4-hydroxy-alpha(1)-({[6-(4-phenylbutoxy)hexyl]amino}methyl)-1,3-benzenedimethanol (RS)-salmeterol ChemIDplus:89365-50-4 CiteXplore:22192967 CiteXplore:22231554 CiteXplore:22235841 CiteXplore:22245487 Class imported / merged by efoimporter DrugBank:DB00938 Ele Holloway James Malone KEGG COMPOUND:89365-50-4 KEGG COMPOUND:C07241 KEGG DRUG:D05792 Patent:DE3414752 Patent:US4992474 Salmeterol Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003223 salmeterol salmeterolum sertraline hydrochloride (+)-cis-(1S,4S)-1-methylamino-4-(3,4-dichlorophenyl)tetralin hydrochloride (+)-sertraline hydrochloride (1S,4S)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-amine hydrochloride (1S,4S)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-aminium chloride (1S-cis)-4-(3,4-dichlorophenyl)-N-methyl-1,2,3,4-tetrahydronaphthalen-1-amine hydrochloride C17H18Cl3N ChEMBL:649372 ChemIDplus:79559-97-0 CiteXplore:10184609 CiteXplore:12093324 CiteXplore:12387695 CiteXplore:12452737 CiteXplore:12701343 CiteXplore:12772794 CiteXplore:14596660 CiteXplore:17661734 CiteXplore:18980823 CiteXplore:19026250 CiteXplore:19370626 CiteXplore:19502000 CiteXplore:19584964 CiteXplore:20383937 CiteXplore:20393946 CiteXplore:20457874 CiteXplore:20953053 CiteXplore:21070110 CiteXplore:21456103 CiteXplore:21823671 CiteXplore:8342482 CiteXplore:8675965 Cl.[H][C@]1(CC[C@H](NC)c2ccccc12)c1ccc(Cl)c(Cl)c1 Class imported / merged by efoimporter DrugBank:DB01104 Ele Holloway HMDB:HMDB05010 InChI=1S/C17H17Cl2N.ClH/c1-20-17-9-7-12(13-4-2-3-5-14(13)17)11-6-8-15(18)16(19)10-11;/h2-6,8,10,12,17,20H,7,9H2,1H3;1H/t12-,17-;/m0./s1 InChIKey=BLFQGGGGFNSJKA-XHXSRVRCSA-N James Malone KEGG DRUG:79559-97-0 KEGG DRUG:D00825 Lustral Patent:US2008161412 Reaxys:5783715 Tomasz Adamusiak Wikipedia:Sertraline Zoloft http://www.ebi.ac.uk/efo/EFO_0003184 sertraline HCl sevoflurane 1,1,1,3,3,3-hexafluoro-2-(fluoromethoxy)propane An ether compound having fluoromethyl and 1,1,1,3,3,3-hexafluoroisopropyl as the two alkyl groups. C4H3F7O CHEBI_9130 Ele Holloway FCOC(C(F)(F)F)C(F)(F)F InChI=1/C4H3F7O/c5-1-12-2(3(6,7)8)4(9,10)11/h2H,1H2 InChIKey=DFEYYRMXOJXZRJ-UHFFFAOYAO Sevofluran Sevoflurano Sevofluranum Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002733 simvastatin (1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate (1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate 11q23.1-q23.2 11q23.1-q23.2[accessedResource: C25H38O5][accessDate: 05-04-2011] 2,2-dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one 23581 3581 79902-63-9 A chromosome band present on 11q A chromosome band present on 11q[accessedResource: C25H38O5][accessDate: 05-04-2011] A fatty acid ester comprising a dihydroxyheptanoic acid unit condensed into a lactone; a partially reduced naphthalene structure; and a 2,2-dimethylbutyric acyl substituent at C17. It is used as a cholesterol-lowering and anti-cardiovascular disease drug. C25H38O5 C25H38O5 InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1 InChIKey=RYMZZMVNJRMUDD-HGQWONQEBD MK-733 Simvastatina Simvastatine Simvastatinum Zocor [H][C@]12[C@H](C[C@@H](C)C=C1C=C[C@H](C)[C@@H]2CC[C@@H]1C[C@@H](O)CC(=O)O1)OC(=O)C(C)(C)CC http://en.wikipedia.org/wiki/Simvastatin Simvastatin (INN) ( /ˈsɪmvəstætɨn/) is a hypolipidemic drug used to control elevated cholesterol, or hypercholesterolemia. It is a member of the statin class of pharmaceuticals. rapamycin (-)-Rapamycin (1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-{(2S)-1-[(1S,3R,4R)-4-hydroxy-3-methoxycyclohexyl]propan-2-yl}-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo[30.3.1.0(4,9)]hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentone Antibiotic AY 22989 C51H79NO13 ChemIDplus:53123-88-9 Class imported / merged by efoimporter DrugBank:DB00877 InChI=1S/C51H79NO13/c1-30-16-12-11-13-17-31(2)42(61-8)28-38-21-19-36(7)51(60,65-38)48(57)49(58)52-23-15-14-18-39(52)50(59)64-43(33(4)26-37-20-22-40(53)44(27-37)62-9)29-41(54)32(3)25-35(6)46(56)47(63-10)45(55)34(5)24-30/h11-13,16-17,25,30,32-34,36-40,42-44,46-47,53,56,60H,14-15,18-24,26-29H2,1-10H3/b13-11+,16-12+,31-17+,35-25+/t30-,32-,33+,34-,36-,37+,38+,39+,40-,42+,43+,44-,46-,47+,51-/m1/s1 InChIKey=QFJCIRLUMZQUOT-KLHQEZAJSA-N James Malone KEGG COMPOUND:53123-88-9 KEGG COMPOUND:C07909 KEGG DRUG:D00753 LIPID MAPS:LMPK06000003 Rapamune Sirolimus [H][C@]1(CC[C@@H](O)[C@@H](C1)OC)C[C@H](C)[C@]1([H])CC(=O)[C@H](C)\\C=C(C)\\[C@@H](O)[C@@H](OC)C(=O)[C@H](C)C[C@H](C)\\C=C\\C=C\\C=C(C)\\[C@H](C[C@]2([H])CC[C@@H](C)[C@@](O)(O2)C(=O)C(=O)N2CCCC[C@@]2([H])C(=O)O1)OC http://www.ebi.ac.uk/efo/EFO_0001602 streptozotocin 2-Deoxy-2-(((methylnitrosoamino)carbonyl)amino)-D-glucopyranose 2-Deoxy-2-(3-methyl-3-nitrosoureido)-D-glucopyranose 2-deoxy-2-{[methyl(nitroso)carbamoyl]amino}-alpha-D-glucopyranose A N-acylglucosamine that has formula C8H15N3O7. An antibiotic that is produced by Streptomyces achromogenes. It is used as an antineoplastic agent and to induce diabetes in experimental animals. C8H15N3O7 CHEBI_9288 CN(N=O)C(=O)N[C@H]1[C@@H](O)O[C@H](CO)[C@@H](O)[C@@H]1O InChI=1/C8H15N3O7/c1-11(10-17)8(16)9-4-6(14)5(13)3(2-12)18-7(4)15/h3-7,12-15H,2H2,1H3,(H,9,16)/t3-,4-,5-,6-,7+/m1/s1/f/h9H InChIKey=ZSJLQEPLLKMAKR-CQRXUCDYDU James Malone N-D-Glucosyl-(2)-N&#39;-nitrosomethylharnstoff N-D-Glucosyl-(2)-N'-nitrosomethylurea Streptozocin (TN ZANOSAR) Streptozocinium Zanosar estreptozocina http://www.ebi.ac.uk/efo/EFO_0001615 streptozocin streptozocine streptozocinum sulfasalazine 2-Hydroxy-5-((4-((2-pyridinylamino)sulfonyl)phenyl)azo)benzoic acid 2-Hydroxy-5-[4-(pyridin-2-ylsulfamoyl)-phenylazo]-benzoic acid 2-hydroxy-5-{[4-(pyridin-2-ylsulfamoyl)phenyl]diazenyl}benzoic acid 4-(Pyridyl-2-amidosulfonyl)-3'-carboxy-4'-hydroxyazobenzene 5-((p-(2-Pyridylsulfamoyl)phenyl)azo)salicylic acid 5-(4-(2-Pyridylsulfamoyl)phenylazo)-2-hydroxybenzoic acid 5-(p-(2-Pyridylsulfamyl)phenylazo)salicylic acid Azulfidine Beilstein:356241 Beilstein:8132868 C18H14N4O5S ChemIDplus:599-79-1 CiteXplore:2434548 Class imported / merged by efoimporter DrugBank:DB00795 Gmelin:2666050 InChI=1S/C18H14N4O5S/c23-16-9-6-13(11-15(16)18(24)25)21-20-12-4-7-14(8-5-12)28(26,27)22-17-3-1-2-10-19-17/h1-11,23H,(H,19,22)(H,24,25)/b21-20+ InChIKey=NCEXYHBECQHGNR-QZQOTICOSA-N KEGG COMPOUND:599-79-1 KEGG COMPOUND:C07316 KEGG DRUG:D00448 OC(=O)c1cc(ccc1O)\\N=N\\c1ccc(cc1)S(=O)(=O)Nc1ccccn1 Patent:US2396145 Reaxys:8132868 Salazosulfapiridina Salazosulfapyridine Salazosulfapyridinum Salicylazosulfapyridine Sulfasalazina Sulfasalazine Sulfasalazinum sulfasalazine sulindac (Z)-5-Fluoro-2-methyl-1-((p-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid A sulfoxide that has formula C20H17FO3S. C20H17FO3S CC1=C(CC(O)=O)c2cc(F)ccc2\\C1=C/c3ccc(cc3)S(C)=O CHEBI_9352 Clinoril InChI=1/C20H17FO3S/c1-12-17(9-13-3-6-15(7-4-13)25(2)24)16-8-5-14(21)10-19(16)18(12)11-20(22)23/h3-10H,11H2,1-2H3,(H,22,23)/b17-9-/f/h22H InChIKey=MLKXDPUZXIRXEP-CFZDBRNIDX James Malone Sulindacum cis-5-Fluoro-2-methyl-1-((4-(methylsulfinyl)phenyl)methylene)-1H-indene-3-acetic acid cis-5-Fluoro-2-methyl-1-((p-methylsulfinyl)benzylidene)indene-3-acetic acid http://www.ebi.ac.uk/efo/EFO_0001618 sulindaco {(1Z)-5-fluoro-2-methyl-1-[4-(methylsulfinyl)benzylidene]-1H-inden-3-yl}acetic acid tetrabenazine 1,2,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy-2H-benzo[a]quinolizin-2-one 1,3,4,6,7,11b-hexahydro-3-isobutyl-9,10-dimethoxy-2H-benzo(a)quinolizin-2-one 2-oxo-3-isobutyl-9,10-dimethoxy-1,3,4,6,7,11b-hexahydro-2H-benzoquinolizine ChemIDplus:58-46-8 CiteXplore:10686169 CiteXplore:19929707 CiteXplore:20442355 CiteXplore:20869622 CiteXplore:21487088 CiteXplore:9040721 Class imported / merged by efoimporter DrugBank:DB04844 Ele Holloway James Malone KEGG COMPOUND:58-46-8 KEGG COMPOUND:C11168 KEGG DRUG:D08575 NIST Chemistry WebBook:58-46-8 Nitoman Patent:US2830993 Reaxys:9356999 Ro 1-9569 TBZ Tetrabenazine Tomasz Adamusiak Wikipedia:Tetrabenazine Xenazine http://www.ebi.ac.uk/efo/EFO_0003253 rac-(3S,11bS)-9,10-dimethoxy-3-(2-methylpropyl)-1,3,4,6,7,11b-hexahydro-2H-pyrido[2,1-a]isoquinolin-2-one tetrabenazina tetrabenazine tetrabenazinum thalidomide (+-)-N-(2,6-dioxo-3-piperidyl)phthalimide (+-)-thalidomide 1,3-dioxo-2-(2,6-dioxopiperidin-3-yl)isoindoline 2,6-dioxo-3-phthalimidopiperidine 2-(2,6-dioxopiperidin-3-yl)-1H-isoindole-1,3(2H)-dione 3-phthalimidoglutarimide C13H10N2O4 ChEMBL:105028 ChemIDplus:50-35-1 CiteXplore:12724820 CiteXplore:21207098 CiteXplore:2694291 CiteXplore:8469046 Class imported / merged by efoimporter Distaval DrugBank:DB01041 InChI=1S/C13H10N2O4/c16-10-6-5-9(11(17)14-10)15-12(18)7-3-1-2-4-8(7)13(15)19/h1-4,9H,5-6H2,(H,14,16,17) InChIKey=UEJJHQNACJXSKW-UHFFFAOYSA-N K-17 KEGG COMPOUND:50-35-1 KEGG COMPOUND:C07910 KEGG DRUG:D00754 N-(2,6-dioxo-3-piperidyl)phthalimide N-Phthalyl-glutaminsaeure-imid N-phthaloylglutamimide N-phthalylglutamic acid imide NIST Chemistry WebBook:50-35-1 O=C1CCC(N2C(=O)c3ccccc3C2=O)C(=O)N1 Patent:GB768821 Reaxys:30233 Sedalis Softenon Talimol Thalidomide Wikipedia:Thalidomide alpha-(N-phthalimido)glutarimide alpha-N-phthalylglutaramide alpha-phthalimidoglutarimide talidomida thalidomide thalidomidum thapsigargin (3S,3aR,4S,6S,6aR,7S,8S,9bS)-6-(acetyloxy)-4-(butanoyloxy)-3,3a-dihydroxy-3,6,9-trimethyl-8-{[(2Z)-2-methylbut-2-enoyl]oxy}-2-oxo-2,3,3a,4,5,6,6a,7,8,9b-decahydroazuleno[4,5-b]furan-7-yl octanoate (3S,3aR,4S,6S,6aR,7S,8S,9bS)-6-(acetyloxy)-4-(butanoyloxy)-3,3a-dihydroxy-3,6-dimethyl-8-{[(3Z)-3-methylpent-3-enoyl]oxy}-2-oxo-2,3,3a,4,5,6,6a,7,8,9b-decahydroazuleno[4,5-b]furan-7-yl octanoate 20621 40621 67526-95-8 A hexa-oxygenated 6,7-guaianolide isolated fron the roots of Thapsia garganica L., Apiaceae. A potent skin irritant, it is used in traditional medicine as a counter-irritant. Thapsigargin inhibits Ca(2+)-transporting ATPase mediated uptake of calcium ions into sarcoplasmic reticulum and is used in experimentation examining the impacts of increasing cytosolic calcium concentrations. ABDOMINAL CRAMPS ABDOMINAL CRAMPS[accessedResource: C34H50O12][accessDate: 05-04-2011] Abdominal Cramp Abdominal Cramp[accessedResource: C34H50O12][accessDate: 05-04-2011] An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen. An involuntary muscular contraction involving a muscle of the abdomen or of a hollow organ within the abdomen.[accessedResource: C34H50O12][accessDate: 05-04-2011] C34H50O12 CRAMPS, ABDOMINAL CRAMPS, ABDOMINAL[accessedResource: C34H50O12][accessDate: 05-04-2011] InChI=1/C34H50O12/c1-9-12-13-14-15-17-24(37)43-28-26-25(20(5)27(28)44-30(38)19(4)11-3)29-34(41,33(8,40)31(39)45-29)22(42-23(36)16-10-2)18-32(26,7)46-21(6)35/h11,22,26-29,40-41H,9-10,12-18H2,1-8H3/b19-11-/t22-,26+,27-,28-,29-,32-,33+,34+/m0/s1 InChIKey=IXFPJGBNCFXKPI-FSIHEZPIBR Tg [H][C@@]1(OC(=O)C(\\C)=C/C)[C@@H](OC(=O)CCCCCCC)[C@@]2([H])C(=C1C)[C@]1([H])OC(=O)[C@@](C)(O)[C@@]1(O)[C@H](C[C@]2(C)OC(C)=O)OC(=O)CCC octanoic acid {3S-[3alpha,3abeta,4alpha,6beta,6abeta,7beta,8alpha(Z),9balpha]}-6-(acetoxy)-2,3,3a,4,5,6,6a,7,8,9b-decahydro-3,3a-dihydroxy-3,6,9-trimethyl-8-[(2-methyl-1-oxo-2-butenyl)oxy]-2-oxo-4-(1-oxobutoxy)-azuleno[4,5-b]furan-7-yl ester thapsigargine thioridazine 10-[2-(1-methyl-2-piperidyl)ethyl]-2-methylsulfanyl-phenothiazine 10-[2-(1-methylpiperidin-2-yl)ethyl]-2-(methylsulfanyl)-10H-phenothiazine 2-Methylmercapto-10-(2-(N-methyl-2-piperidyl)ethyl)phenothiazine 3-Methylmercapto-N-(2'-(N-methyl-2-piperidyl)ethyl)phenothiazine A phenothiazine derivative having a methylsulfanyl subsitituent at the 2-position and a (1-methylpiperidin-2-yl)ethyl] group at the N-10 position. A phenothiazine that has formula C21H26N2S2. C21H26N2S2 CHEBI_9566 CSc1ccc2Sc3ccccc3N(CCC3CCCCN3C)c2c1 InChI=1/C21H26N2S2/c1-22-13-6-5-7-16(22)12-14-23-18-8-3-4-9-20(18)25-21-11-10-17(24-2)15-19(21)23/h3-4,8-11,15-16H,5-7,12-14H2,1-2H3 InChIKey=KLBQZWRITKRQQV-UHFFFAOYAE Mallorol Malloryl Meleril Mellaril Mellaril-S Mellerets Mellerette Melleril Orsanil Sonapax Thioridazin http://www.ebi.ac.uk/efo/EFO_0001625 thioridazinum tioridazina ticlopidine 5-(2-chlorobenzyl)-4,5,6,7-tetrahydrothieno[3,2-c]pyridine C14H14ClNS ChemIDplus:55142-85-3 Clc1ccccc1CN1CCc2sccc2C1 DrugBank:DB00208 InChI=1S/C14H14ClNS/c15-13-4-2-1-3-11(13)9-16-7-5-14-12(10-16)6-8-17-14/h1-4,6,8H,5,7,9-10H2 InChIKey=PHWBOXQYWZNQIN-UHFFFAOYSA-N KEGG COMPOUND:C07140 Patent:DE2404308 Patent:US4051141 Patent:US4127580 Wikipedia:Ticlopidine ticlopidina ticlopidinum true tomatidine (22S,25S)-5alpha-spirosolan-3beta-ol (3beta,5alpha,22beta,25S)-spirosolan-3-ol 5alpha-tomatidan-3beta-ol C27H45NO2 CHEBI_9629 InChI=1/C27H45NO2/c1-16-7-12-27(28-15-16)17(2)24-23(30-27)14-22-20-6-5-18-13-19(29)8-10-25(18,3)21(20)9-11-26(22,24)4/h16-24,28-29H,5-15H2,1-4H3/t16-,17-,18-,19-,20+,21-,22-,23-,24-,25-,26-,27-/m0/s1 InChIKey=XYNPYHXGMWJBLV-VXPJTDKGBR Tomatidin [H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@@]4(C)[C@@]3([H])C[C@]3([H])O[C@@]5(CC[C@H](C)CN5)[C@@H](C)[C@]43[H])[C@@]1(C)CC[C@H](O)C2 http://www.ebi.ac.uk/efo/EFO_0001627 tomatine (22S,25S)-5alpha-spirosolan-3beta-yl beta-D-glucopyranosyl-(1->2)-[beta-D-xylopyranosyl-(1->3)]-beta-D-glucopyranosyl-(1->4)-beta-D-galactopyranoside (3beta,5alpha,22beta,25S)-spirosolan-3-yl O-beta-D-glucopyranosyl-(1->2)-O-(beta-D-xylopyranosyl)-(1->3)-O-beta-D-glucopyranosyl-(1->4)-beta-D-galactopyranoside A''-Tomatidine Beilstein:78250 C50H83NO21 ChEMBL:623058 ChemIDplus:17406-45-0 CiteXplore:17585910 CiteXplore:19457446 CiteXplore:19514731 CiteXplore:20300588 CiteXplore:21264526 CiteXplore:21541327 Class imported / merged by efoimporter InChI=1S/C50H83NO21/c1-20-7-12-50(51-15-20)21(2)32-28(72-50)14-26-24-6-5-22-13-23(8-10-48(22,3)25(24)9-11-49(26,32)4)65-45-40(63)37(60)41(31(18-54)68-45)69-47-43(71-46-39(62)36(59)34(57)29(16-52)66-46)42(35(58)30(17-53)67-47)70-44-38(61)33(56)27(55)19-64-44/h20-47,51-63H,5-19H2,1-4H3/t20-,21-,22-,23-,24+,25-,26-,27+,28-,29+,30+,31+,32-,33-,34+,35+,36-,37+,38+,39+,40+,41-,42-,43+,44-,45+,46-,47-,48-,49-,50-/m0/s1 InChIKey=REJLGAUYTKNVJM-SGXCCWNXSA-N James Malone KEGG COMPOUND:17406-45-0 KEGG COMPOUND:C10827 LIPID MAPS:LMST01150015 Reaxys:78250 Tomatine [H][C@@]12CC[C@]3([H])[C@]([H])(CC[C@@]4(C)[C@@]3([H])C[C@]3([H])O[C@@]5(CC[C@H](C)CN5)[C@@H](C)[C@]43[H])[C@@]1(C)CC[C@@H](C2)O[C@@H]1O[C@H](CO)[C@H](O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O[C@@H]3OC[C@@H](O)[C@H](O)[C@H]3O)[C@H]2O[C@@H]2O[C@H](CO)[C@@H](O)[C@H](O)[C@H]2O)[C@H](O)[C@H]1O alpha-tomatine http://www.ebi.ac.uk/efo/EFO_0001628 lycopersicin triazolam 8-chloro-6-(2-chlorophenyl)-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepine Beilstein:1226643 C17H12Cl2N4 Cc1nnc2CN=C(c3ccccc3Cl)c3cc(Cl)ccc3-n12 ChEMBL:127419 ChemIDplus:28911-01-5 Class imported / merged by efoimporter Halcion InChI=1S/C17H12Cl2N4/c1-10-21-22-16-9-20-17(12-4-2-3-5-14(12)19)13-8-11(18)6-7-15(13)23(10)16/h2-8H,9H2,1H3 InChIKey=JOFWLTCLBGQGBO-UHFFFAOYSA-N KEGG DRUG:D00387 Wikipedia:Triazolam tribenuron methyl C15H17N5O6S COC(=O)c1ccccc1S(=O)(=O)NC(=O)N(C)c1nc(C)nc(OC)n1 ChEMBL:792130 ChemIDplus:101200-48-0 CiteXplore:20048324 CiteXplore:21277578 CiteXplore:21637929 CiteXplore:21983197 CiteXplore:22217454 Class imported / merged by efoimporter Ele Holloway InChI=1S/C15H17N5O6S/c1-9-16-13(18-14(17-9)26-4)20(2)15(22)19-27(23,24)11-8-6-5-7-10(11)12(21)25-3/h5-8H,1-4H3,(H,19,22) InChIKey=VLCQZHSMCYCDJL-UHFFFAOYSA-N James Malone KEGG COMPOUND:101200-48-0 KEGG COMPOUND:C10962 METHYL 2-[4-METHOXY-6-METHYL-1,3,5-TRAZIN-2-YL(METHYL)CARBAMOYLSULFAMOYL]BENZOATE PDBeChem:1TB Reaxys:7447730 Sulfmethmeton-methyl Tomasz Adamusiak Tribenuron methyl Tribenuron methyl ester Tribenuron-methyl http://www.ebi.ac.uk/efo/EFO_0003206 methyl 2-[({[(4-methoxy-6-methyl-1,3,5-triazin-2-yl)(methyl)amino]carbonyl}amino)sulfonyl]benzoate methyl 2-{[(4-methoxy-6-methyl-1,3,5-triazin-2-yl)(methyl)carbamoyl]sulfamoyl}benzoate troglitazone (+-)-all-rac-5-(p-((6-Hydroxy-2,5,7,8-tetramethyl-2-chromanyl)methoxy)benzyl)-2,4-thiazolidinedione 5-(4-(6-Hydroxy-2,5,7,8-tetramethylchroman-2-ylmethoxy)benzyl)thiazolidine-2,4-dione 5-{4-[(6-hydroxy-2,5,7,8-tetramethyl-3,4-dihydro-2H-chromen-2-yl)methoxy]benzyl}-1,3-thiazolidine-2,4-dione A chromane that has formula C24H27NO5S. C24H27NO5S CHEBI_9753 Cc1c(C)c2OC(C)(CCc2c(C)c1O)COc1ccc(CC2SC(=O)NC2=O)cc1 InChI=1/C24H27NO5S/c1-13-14(2)21-18(15(3)20(13)26)9-10-24(4,30-21)12-29-17-7-5-16(6-8-17)11-19-22(27)25-23(28)31-19/h5-8,19,26H,9-12H2,1-4H3,(H,25,27,28)/f/h25H InChIKey=GXPHKUHSUJUWKP-LNNLXFCOCP James Malone Rezulin (TN) Romglizone http://www.ebi.ac.uk/efo/EFO_0001632 troglitazona troglitazonum sodium valproate 1069-66-5 2-Propylvaleric acid sodium salt 27/09/1946 37072 C8H15NaO2 C8H15O2Na CP25 CP25[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Depakene Encoded by HOXC6 Gene (ANTP Family), 153- and 235-amino acid (27-kD) Homeobox C6 Protein isoforms are highly conserved sequence-specific DNA-binding homeobox transcription repressors that can cooperate with other HOX proteins and may contribute to the breast cell phenotype through co-operative interactions. As part of a developmental regulatory system that provides anterior-posterior positional identity to cells, HOXC6 may regulate the coordinated expression of multiple genes involved in morphogenesis and differentiation. (from LocusLink, Swiss-Prot, OMIM, and NCI) Epilim HHO.C8 HHO.C8[accessedResource: C8H15NaO2][accessDate: 05-04-2011] HOX3C HOX3C[accessedResource: C8H15NaO2][accessDate: 05-04-2011] HOXC6 HOXC6[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein 3C Homeobox Protein 3C[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein C6 Homeobox Protein C6[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein C8 Homeobox Protein C8[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein CP25 Homeobox Protein CP25[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein HHO.C8 Homeobox Protein HHO.C8[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein HOXC6 Homeobox Protein HOXC6[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein Hox-3C Homeobox Protein Hox-3C[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox Protein Hox-C6 Homeobox Protein Hox-C6[accessedResource: C8H15NaO2][accessDate: 05-04-2011] Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development. Homeobox protein Hox-C6 (235 aa, ~27 kDa) is encoded by the human HOXC6 gene. This protein plays a role in transcription and embryonic development.[accessedResource: C8H15NaO2][accessDate: 05-04-2011] InChI=1/C8H16O2.Na/c1-3-5-7(6-4-2)8(9)10;/h7H,3-6H2,1-2H3,(H,9,10);/q;+1/p-1/fC8H15O2.Na/q-1;m InChIKey=AEQFSUDEHCCHBT-SKMAPJTGCG The sodium salt of valproic acid. [Na+].CCCC(CCC)C([O-])=O sodium 2-propylpentanoate sodium 2-propylpentanoate verapamil Jon Ison Verapamil dexverapamil http://www.ebi.ac.uk/efo/EFO_0003197 DrugBank:DB00661 "DrugBank" ChemIDplus:52-53-9 "CAS Registry Number" Beilstein:2825000 "Beilstein Registry Number" KEGG COMPOUND:C07188 "KEGG COMPOUND" "An L-type calcium channel blocker of the phenylalkylamine class." [] KEGG COMPOUND:52-53-9 "CAS Registry Number" KEGG DRUG:D02356 "KEGG DRUG" immortal cell line cell A cell line cell that is expected to be capable of an unlimited number of divisions, and is thus able to support indefinite growth/propagation in vitro as part of a immortal cell line. continuous cell line cell permanent cell line cell early embryonic cell A cell found in the embryo before the formation of all the gem layers is complete. obsolete_cell line cell 2.15 Ele Holloway James Malone Not used - already a cell line parent class http://www.ebi.ac.uk/efo/EFO_0002477 true male germ cell James Malone http://www.ebi.ac.uk/efo/EFO_0000576 testis - germ cell sperm A mature male germ cell that develops from a spermatid. A mature male germ cell that develops from a spermatid.[accessedResource: ZFA:0009006][accessDate: 05-04-2011] A mature, haploid male gamete. A mature, haploid male gamete.[accessedResource: FBbt:00004954][accessDate: 05-04-2011] Definitive germ cell of the male sex. FBbt:00004954 FMAID:67338 James Malone MA:0002765 MAT:0000131 Mature sperm cell[accessedResource: FMAID:67338][accessDate: 05-04-2011] SAEL:93 Spermatozoon[accessedResource: FMAID:67338][accessDate: 05-04-2011] Tomasz Adamusiak WBbt:0005321 ZFA:0009006 http://www.ebi.ac.uk/efo/EFO_0000983 male gamete mature sperm cell semen sperm cell sperm cell[accessedResource: ZFA:0009006][accessDate: 05-04-2011] spermatazoon spermatazoon[accessedResource: MAT:0000131][accessDate: 05-04-2011] spermatozoid spermatozoid[accessedResource: ZFA:0009006][accessDate: 05-04-2011] spermatozoon oocyte A female germ cell that has entered meiosis. A female germ cell that has entered meiosis.[accessedResource: CL:0000023][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0009008 http://www.ebi.ac.uk/efo/EFO_0002443 plant egg A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization. A female gamete where meiosis has progressed to metaphase II and is able to participate in fertilization.[accessedResource: CL:0000025][accessDate: 05-04-2011] James Malone MAT:0000213 OntologyMappingImporter following MAT:0000213 PO:0020094 Tomasz Adamusiak egg egg[accessedResource: MAT:0000213][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0001000 mature oocyte mature oocyte[accessedResource: CL:0000025][accessDate: 05-04-2011] ovum ovum[accessedResource: CL:0000025][accessDate: 05-04-2011] stem cell A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells. A relatively undifferentiated cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.[accessedResource: CL:0000034][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0000709 hematopoietic stem cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76. A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. Hematopoietic stem cells lack cell markers of effector cells (lin-negative). Lin-negative is defined by lacking one or more of the following cell surface markers: CD2, CD3 epsilon, CD4,CD5,CD8 alpha chain, CD14, CD19, CD20, integrin alpha-M, neural cell adhesion molecule 1, lymphocyte antigen 6G, lymphocyte antigen 76.[accessedResource: CL:0000037][accessDate: 05-04-2011] HSC HSC[accessedResource: CL:0000037][accessDate: 05-04-2011] James Malone Tomasz Adamusiak blood forming stem cell blood forming stem cell[accessedResource: CL:0000037][accessDate: 05-04-2011] colony forming unit hematopoietic hemopoietic stem cell hemopoietic stem cell[accessedResource: CL:0000037][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000527 erythroid progenitor cell A progenitor cell committed to the erythroid lineage. A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative). A progenitor cell committed to the erythroid lineage. This cell is ter119-positive but lacks expression of other hematopoietic lineage markers (lin-negative).[accessedResource: CL:0000038][accessDate: 05-04-2011] BFU-E CFU-E Tomasz Adamusiak blast forming unit erythroid burst forming unit erythroid colony forming unit erythroid erythroid stem cell http://www.ebi.ac.uk/efo/EFO_0002434 monoblast mature eosinophil neutrophilic myeloblast mature basophil mature basophil leucocyte neuronal stem cell James Malone Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors. Neural stem cell is characterized as an undifferentiated cell that originates from the neuroectoderm and has the capacity both to perpetually self-renew without differentiating and to generate multiple types of lineage-restricted progenitors.[accessedResource: CL:0000047][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000624 neural stem cell neural stem progenitor cell multipotent stem cell A stem cell that can give rise to mulitple lineages of cells. A stem cell that can give rise to multiple lineages of cells. A stem cell that can give rise to multiple lineages of cells.[accessedResource: CL:0000048][accessDate: 05-04-2011] James Malone Multipotent cell Multipotent cell[accessedResource: CL:0000048][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000608 multi fate stem cell multi fate stem cell[accessedResource: CL:0000048][accessDate: 05-04-2011] multi-fate stem cell multi-fate stem cell[accessedResource: CL:0000048][accessDate: 05-04-2011] multifate stem cell multifate stem cell[accessedResource: CL:0000048][accessDate: 05-04-2011] multipotent adult progenitor cell common myeloid progenitor megakaryocyte-erythroid progenitor cell common lymphoid progenitor blast cell A precursor cell with a limited number of potential fates. A precursor cell with a limited number of potential fates.[accessedResource: CL:0000055][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003034 non-terminally differentiated cell non-terminally differentiated cell[accessedResource: CL:0000055][accessDate: 05-04-2011] myoblast An embryonic (precursor) cell of the myogenic lineage that develops from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes. An embryonic (precursor) cell of the myogenic lineage that develops from the mesoderm. They undergo proliferation, migrate to their various sites, and then differentiate into the appropriate form of myocytes.[accessedResource: CL:0000056][accessDate: 05-04-2011] An embryonic cell that becomes a cell of muscle fiber. An embryonic cell that becomes a cell of muscle fiber.[accessedResource: BTO:0000222][accessDate: 05-04-2011] BTO:0000222 James Malone http://www.ebi.ac.uk/efo/EFO_0000611 sarcoblast fibroblast A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped. A connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules. Flattened and irregular in outline with branching processes; appear fusiform or spindle-shaped.[accessedResource: CL:0000057][accessDate: 05-04-2011] A connective-tissue cell of mesenchymal origin that secretes proteins and especially molecular collagen from which the extracellular fibrillar matrix of connective tissue forms. A connective-tissue cell of mesenchymal origin that secretes proteins and especially molecular collagen from which the extracellular fibrillar matrix of connective tissue forms.[accessedResource: BTO:0000452][accessDate: 05-04-2011] A large, flat, oval cell found in connective tissue and responsible for the formation of fibers. A large, flat, oval cell found in connective tissue and responsible for the formation of fibers.[accessedResource: NIFSTD:nlx_cell_20090201][accessDate: 05-04-2011] BTO:0000452 James Malone NIFSTD:nlx_cell_20090201 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000496 mouse embryonic fibroblast primary dermal fibroblast osteoblast A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone. A bone-forming cell which secretes an extracellular matrix. Hydroxyapatite crystals are then deposited into the matrix to form bone.[accessedResource: CL:0000062][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0001375 epithelial cell A cell that is usually found in a two-dimensional sheet with a free surface. A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina. A cell that is usually found in a two-dimensional sheet with a free surface. The cell has a cytoskeleton that allows for tight cell to cell contact and for cell polarity where apical part is directed towards the lumen and the basal part to the basal lamina.[accessedResource: CL:0000066][accessDate: 05-04-2011] BTO:0000414 Cell that cover the surface of the body and line its cavities. Cell that cover the surface of the body and line its cavities.[accessedResource: BTO:0000414][accessDate: 05-04-2011] Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH). Cell that line the inner and outer surfaces of the body by forming cellular layers (epithelium) or masses (MSH).[accessedResource: NIFSTD:sao441624014][accessDate: 05-04-2011] Epitheliocyte Epitheliocyte[accessedResource: CL:0000066][accessDate: 05-04-2011] James Malone NIFSTD:sao441624014 Tomasz Adamusiak epithelial http://www.ebi.ac.uk/efo/EFO_0000475 blood vessel endothelial cell Cuboidal endothelial cell of vascular tree Cuboidal endothelial cell of vascular tree[accessedResource: CL:0000071][accessDate: 05-04-2011] James Malone The endothelial cells that line the vasculature. The endothelial cells that line the vasculature.[accessedResource: CL:0000071][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000297 primary blood vessel endothelial cell primary microvascular endothelial cell umbilical vein endothelial cell mesothelial cell A flattened epithelial cell of mesenchymal origin that lines the serous cavity. A flattened epithelial cell of mesenchymal origin that lines the serous cavity.[accessedResource: CL:0000077][accessDate: 05-04-2011] James Malone Mesotheliocyte Mesotheliocyte[accessedResource: CL:0000077][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0001419 circulating cell A cell which moves among different tissues of the body, via blood, lymph, or other medium. A cell which moves among different tissues of the body, via blood, lymph, or other medium.[accessedResource: CL:0000080][accessDate: 05-04-2011] Ele Holloway James Malone ZFA:0009043 http://www.ebi.ac.uk/efo/EFO_0002478 blood cell A cell found predominately in the blood. A cell found predominately in the blood.[accessedResource: CL:0000081][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002453 exocrine pancreas cell An epithelial cell of the pancreas. An epithelial cell of the pancreas.[accessedResource: CL:0000083][accessDate: 05-04-2011] BTO:0000028 Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done. Cells of the pancreas that secrete digestive enzymes, the archetypal secretory cell upon which much of the early work on the sequence of events in the secretory process was done.[accessedResource: BTO:0000028][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak epithelial cell of exocrine pancreas epithelial cell of pancreas epithelial cell of pancreas[accessedResource: CL:0000083][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002541 pancreatic acinar cell pancreatic acinar cell[accessedResource: BTO:0000028][accessDate: 05-04-2011] pancreatic acinus T cell A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex.[accessedResource: CL:0000084][accessDate: 05-04-2011] James Malone MSH:D013601 T lymphocyte T lymphocyte[accessedResource: CL:0000084][accessDate: 05-04-2011] T-cell T-cell[accessedResource: CL:0000084][accessDate: 05-04-2011] T-lymphocyte T-lymphocyte[accessedResource: CL:0000084][accessDate: 05-04-2011] T-lymphocytes Th1 Th2 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000208 pancreatic T effector cell true Kupffer cell osteoclast granulocyte A leukocyte with abundant granules in the cytoplasm. A leukocyte with abundant granules in the cytoplasm.[accessedResource: CL:0000094][accessDate: 05-04-2011] A polymorphonuclear white blood cell with granule-containing cytoplasm. A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes. A polymorphonuclear white blood cell with granule-containing cytoplasm.nIn humans the granulocytes are also classified as polymorphonuclear leucocytes and are subdivided according to the staining properties of the granules into eosinophils, basophils and neutrophils, some invertebrate blood cells are also referred to, not very helpfully, as granulocytes.[accessedResource: BTO:0000539][accessDate: 05-04-2011] BTO:0000539 Granular leucocyte Granular leucocyte[accessedResource: CL:0000094][accessDate: 05-04-2011] Granular leukocyte Granular leukocyte[accessedResource: CL:0000094][accessDate: 05-04-2011] James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000522 mature neutrophil mast cell interneuron GABAergic interneuron James Malone Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions. Most generally any neuron which is not motor or sensory. Interneurons may also refer to neurons whose axons remain within a particular brain region as contrasted with projection neurons which have axons projecting to other brain regions.[accessedResource: CL:0000099][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000550 motor neuron An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement. An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement.[accessedResource: CL:0000100][accessDate: 05-04-2011] NIFSTD:sao1460710779 Neurons which activate muscle cells (MSH). Neurons which activate muscle cells (MSH).[accessedResource: NIFSTD:sao1460710779][accessDate: 05-04-2011] Tomasz Adamusiak anterior horn cell anterior horn cell[accessedResource: CL:0000100][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002440 motoneuron motoneuron[accessedResource: CL:0000100][accessDate: 05-04-2011] sensory neuron Any neuron having a sensory function; an afferent neuron conveying sensory impulses. Any neuron having a sensory function; an afferent neuron conveying sensory impulses.[accessedResource: CL:0000101][accessDate: 05-04-2011] Ele Holloway James Malone http://www.ebi.ac.uk/efo/EFO_0002481 somatic nervous system A neuron that is part of nerve found outside the central nervous system. A neuron that is part of nerve found outside the central nervous system.[accessedResource: CL:0000111][accessDate: 05-04-2011] FMAID:9903 James Malone MA:0000230 MAT:0000099 PNS - somatic PNS - somatic[accessedResource: MAT:0000099][accessDate: 05-04-2011] Peripheral nervous system[accessedResource: FMAID:9903][accessDate: 05-04-2011] SAEL:81 Tomasz Adamusiak WBbt:0005760 ZFA:0000070 http://www.ebi.ac.uk/efo/EFO_0000892 peripheral nerve peripheral nervous system - human peripheral neuron peripheral neuron[accessedResource: CL:0000111][accessDate: 05-04-2011] sensory axons peripheral sensory axons peripheral[accessedResource: ZFA:0000070][accessDate: 05-04-2011] columnar neuron James Malone http://www.ebi.ac.uk/efo/EFO_0000366 intermediolateral column motoneuron endothelial cell An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm. An endothelial cell comprises the outermost layer or lining of anatomical structures and can be squamous or cuboidal. In mammals, endothelial cell has vimentin filaments and is derived from the mesoderm.[accessedResource: CL:0000115][accessDate: 05-04-2011] BTO:0001176 Endotheliocyte Endotheliocyte[accessedResource: CL:0000115][accessDate: 05-04-2011] James Malone The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart. The main type of cell found in the inside lining of blood vessels, lymph vessels, and the heart.[accessedResource: BTO:0001176][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000467 glial cell A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. (Reichenbach and Wolburg) A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons. (Reichenbach and Wolburg)[accessedResource: NIFSTD:sao313023570][accessDate: 05-04-2011] A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Guide neuronal migration during development, and exchange metabolites with neurons.[accessedResource: CL:0000125][accessDate: 05-04-2011] BTO:0000524 James Malone MERGED DEFINITION:nTARGET DEFINITION: The delicate network of branched cells and fibers that supports the tissue of the central nervous system.n--------------------nSOURCE DEFINITION: The cells of the supportive tissue of the central nervous system (neuroglia). These non-neural cells are of three kinds: astrocytes, oligodendrocytes (collectively termed macroglia) and microglia. NIFSTD:sao313023570 The delicate network of branched cells and fibers that supports the tissue of the central nervous system. The delicate network of branched cells and fibers that supports the tissue of the central nervous system.[accessedResource: BTO:0000524][accessDate: 05-04-2011] Tomasz Adamusiak glia glia[accessedResource: NIFSTD:sao313023570][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000517 mixed glial cells neuroglia neuroglia cell neuroglial cell neuroglial cell[accessedResource: CL:0000125][accessDate: 05-04-2011] astrocyte A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with microglia) respond to injury (MSH). A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from "star" cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and "reactive astrocytes" (along with microglia) respond to injury (MSH).[accessedResource: NIFSTD:sao1394521419][accessDate: 05-04-2011] A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury. A class of large neuroglial (macroglial) cells in the central nervous system - the largest and most numerous neuroglial cells in the brain and spinal cord. Astrocytes (from 'star' cells) are irregularly shaped with many long processes, including those with 'end feet' which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and 'reactive astrocytes' (along with microglia) respond to injury.[accessedResource: CL:0000127][accessDate: 05-04-2011] James Malone NIFSTD:sao1394521419 Tomasz Adamusiak cells) are irregularly shaped with many long processes, including those with "end feet" which form the glial (limiting) membrane and directly and indirectly contribute to the blood-brain barrier. They regulate the extracellular ionic and chemical environment, and http://purl.obolibrary.org/obo/BTO_0000099 http://www.ebi.ac.uk/efo/EFO_0001996 oligodendrocyte A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system. A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system.[accessedResource: CL:0000128][accessDate: 05-04-2011] A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH). A class of large neuroglial (macroglial) cells in the central nervous system. Oligodendroglia may be called interfascicular, perivascular, or perineuronal (not the same as satellite cells, perineuronal of ganglia) according to their location. They form the insulating myelin sheath of axons in the central nervous system (MSH).[accessedResource: NIFSTD:sao844118448][accessDate: 05-04-2011] NIFSTD:sao844118448 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002442 oligodendroglia oligodendroglia[accessedResource: NIFSTD:sao844118448][accessDate: 05-04-2011] microglial cell A central nervous system macrophage found in the parenchyma of the central nervous system. A central nervous system macrophage found in the parenchyma of the central nervous system. Marker include CD11b-positive, F4/80-positive, and CD68-positive. A central nervous system macrophage found in the parenchyma of the central nervous system. Marker include CD11b-positive, F4/80-positive, and CD68-positive.[accessedResource: CL:0000129][accessDate: 05-04-2011] A small, migratory, phagocytic, interstitial cell of hematopoietic origin found in the central nervous system. Microglial cells are of various forms and may have slender branched processes. A small, migratory, phagocytic, interstitial cell of hematopoietic origin found in the central nervous system. Microglial cells are of various forms and may have slender branched processes.[accessedResource: NIFSTD:sao789292116][accessDate: 05-04-2011] BTO:0000078 Hortega cell James Malone MERGED DEFINITION:nTARGET DEFINITION: The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue. n--------------------nSOURCE DEFINITION: One of the small interstitial phagocytic cells of the microglia. NIFSTD:sao789292116 The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue. The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system. They are of various forms and may have slender branched processes. They are migratory and act as phagocytes to waste products of nerve tissue.[accessedResource: BTO:0000078][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000590 microglia microglia[accessedResource: BTO:0000078][accessDate: 05-04-2011] microgliocyte mixed glial cells (predominantly microglia) fat cell A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides. A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of triglycerides.[accessedResource: CL:0000136][accessDate: 05-04-2011] A fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals. Fat is usually stored in the form of tryglycerides. James Malone adipocyte adipocyte[accessedResource: CL:0000136][accessDate: 05-04-2011] adipose cell adipose cell[accessedResource: CL:0000136][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002001 lipocyte chondrocyte James Malone Polymorphic cell that form cartilage. Polymorphic cell that form cartilage.[accessedResource: CL:0000138][accessDate: 05-04-2011] cartilage cell cartilage cell[accessedResource: CL:0000138][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0001374 melanocyte A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance. A pigment cell derived from the neural crest. Contains melanin-filled pigment granules, which gives a brown to black appearance.[accessedResource: CL:0000148][accessDate: 05-04-2011] An epidermal cell that produces melanin. An epidermal cell that produces melanin.[accessedResource: BTO:0000847][accessDate: 05-04-2011] BTO:0000847 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002437 melanophore secretory cell A cell that specializes in controlled release of one or more substances. A cell that specializes in controlled release of one or more substances.[accessedResource: CL:0000151][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002446 parietal cell A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl. A large, oval stomach epithelial cell with a central nucleus; source of gastric acid. Secretes HCl.[accessedResource: CL:0000162][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0000642 oxyntic cell oxyntic cell[accessedResource: CL:0000162][accessDate: 05-04-2011] neuroendocrine cell A neuron that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system. A neuron that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system.[accessedResource: CL:0000165][accessDate: 05-04-2011] BTO:0002691 Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. An example of a neuroendocrine cell is the cell of the adrenal medulla which releases adrenalin to the blood. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. An example of a neuroendocrine cell is the cell of the adrenal medulla which releases adrenalin to the blood. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood.[accessedResource: BTO:0002691][accessDate: 05-04-2011] Neuroendocrine cells are cells that receive neuronal input (neurotransmitters released by nerve cells) and, as a consequence of this input, release message molecules (hormones) to the blood. In this way they bring about and integration between the nervous system and the endocrine system, a process known as neuroendocrine integration. An example of a neuroendocrine cell is the cell of the adrenal medulla (innermost part of the adrenal gland) which releases adrenalin to the blood. The adrenal medullary cells are controlled by the sympathetic division of the autonomic nervous system. These cells are modified postganglionic neurons. Autonomic nerve fibers lead directly to them from the central nervous system. The major center of neuroendocrine integration in the body is found in the hypothalamus and the pituitary gland. Here hypothalamic neurosecretory cells release factors to the blood. Some of these these factors, release at the median eminence, control the secretion of pituitary hormones, while others (the hormones oxytocin and vasopressin) are released directly to the peripheral circulation. Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003059 neurosecretory cell neurosecretory cell[accessedResource: CL:0000165][accessDate: 05-04-2011] beta cell A cell that composes the bulk of the islets of Langerhans and secretes insulin. A cell that composes the bulk of the islets of Langerhans and secretes insulin.[accessedResource: NCIt:C32199][accessDate: 05-04-2011] Insulin Cell Insulin Cell[accessedResource: NCIt:C32199][accessDate: 05-04-2011] Insulin Secreting Cell Insulin Secreting Cell[accessedResource: NCIt:C32199][accessDate: 05-04-2011] James Malone NCIt:C32199 Tomasz Adamusiak beta cell islets http://www.ebi.ac.uk/efo/EFO_0000285 alpha cell A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon. A type of enteocrine cell found in the periphery of the islets of Langerhans that secretes glucagon.[accessedResource: CL:0000171][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002539 pancreatic A cell pancreatic A cell[accessedResource: CL:0000171][accessDate: 05-04-2011] pancreatic alpha cell pancreatic alpha cell[accessedResource: CL:0000171][accessDate: 05-04-2011] Leydig cell A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis. A Leydig cell is a testosterone-secreting cell in the interstitial area, between the seminiferous tubules, in the testis.[accessedResource: CL:0000178][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0000567 interstitial cell interstitial cell[accessedResource: CL:0000178][accessDate: 05-04-2011] testis - leydig cell hepatocyte A liver cell. A liver cell.[accessedResource: BTO:0000575][accessDate: 05-04-2011] BTO:0000575 James Malone The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated. The main structural component of the liver. They are specialized epithelial cells that are organized into interconnected plates called lobules. Majority of cell population of liver, polygonal in shape, arranged in plates or trabeculae between sinusoids; may have single nucleus or binucleated.[accessedResource: CL:0000182][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000528 muscle cell A mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle. A mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle. This cell has as part of its cytoplasm myofibrils organized in various patterns. A mature contractile cell, commonly known as a myocyte, that forms one of three kinds of muscle. This cell has as part of its cytoplasm myofibrils organized in various patterns.[accessedResource: CL:0000187][accessDate: 05-04-2011] James Malone Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH). Mature contractile cells, commonly known as myocytes, that form one of three kinds of muscle. The three types of muscle cells are skeletal (muscle fibers), cardiac (myocytes, cardiac), and smooth (myocytes, smooth muscle). They are derived from embryonic (precursor) muscle cells called myoblasts (MSH).[accessedResource: NIFSTD:sao519252327][accessDate: 05-04-2011] NIFSTD:sao519252327 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000609 myocyte myocyte[accessedResource: CL:0000187][accessDate: 05-04-2011] skeletal muscle A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles. A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.[accessedResource: MSH:D018482][accessDate: 05-04-2011] A usually voluntary muscle made up of elongated, multinucleated, transversely striated muscle fibers, having principally bony attachments. A usually voluntary muscle made up of elongated, multinucleated, transversely striated muscle fibers, having principally bony attachments.[accessedResource: BTO:0001103][accessDate: 05-04-2011] Anterior Tibial Muscle Anterior Tibial Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011] BFBbt:00003259 BTO:0001103 EHDAA:5031 EMAPA:17745 EV:0100377 FMAID:5022 Gastrocnemius Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011] James Malone Jon Ison MAT:0000302 MSH:D018482 MUSCLE SKELETAL MUSCLE SKELETAL[accessedResource: MSH:D018482][accessDate: 05-04-2011] MUSCLE VOLUNTARY MUSCLE VOLUNTARY[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscle organ Muscle organ[accessedResource: FMAID:5022][accessDate: 05-04-2011] Muscle, Anterior Tibial Muscle, Anterior Tibial[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscle, Gastrocnemius[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscle, Plantaris[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscle, Skeletal Muscle, Skeletal[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscle, Soleus[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscle, Voluntary Muscle, Voluntary[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscles, Skeletal Muscles, Skeletal[accessedResource: MSH:D018482][accessDate: 05-04-2011] Muscles, Voluntary Muscles, Voluntary[accessedResource: MSH:D018482][accessDate: 05-04-2011] Nonparenchymatous organ that primarily consists of skeletal muscle tissue aggregated into macroscopic fasciculi by connective tissue; together with other muscles, it constitutes the muscular system. Examples: biceps, diaphragm, masseter, right third external intercostal muscle, external oblique, levator ani, serratus anterior. Plantaris Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011] SAEL:94 Skeletal Muscles Skeletal Muscles[accessedResource: MSH:D018482][accessDate: 05-04-2011] Skeletal muscle fiber Skeletal muscle fiber[accessedResource: CL:0000188][accessDate: 05-04-2011] Soleus Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011] Striated muscle cell which has as its direct parts two or more peripherally located nuclei. Striated muscle cell which has as its direct parts two or more peripherally located nuclei.[accessedResource: CL:0000188][accessDate: 05-04-2011] Tibial Muscle, Anterior Tibial Muscle, Anterior[accessedResource: MSH:D018482][accessDate: 05-04-2011] Tomasz Adamusiak Voluntary Muscle Voluntary Muscle[accessedResource: MSH:D018482][accessDate: 05-04-2011] Voluntary Muscles Voluntary Muscles[accessedResource: MSH:D018482][accessDate: 05-04-2011] XAO:0000174 adult somatic muscle http://www.ebi.ac.uk/efo/EFO_0000888 muscle organ - human skeletal muscle cell skeletal muscle cell[accessedResource: CL:0000188][accessDate: 05-04-2011] skeletal muscle system skeletal muscle system[accessedResource: MAT:0000302][accessDate: 05-04-2011] somatic muscle striated muscle striated muscle cell smooth muscle cell A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast). A non-striated, elongated, spindle-shaped cell found lining the digestive tract, uterus, and blood vessels. They develop from specialized myoblasts (smooth muscle myoblast).[accessedResource: CL:0000192][accessDate: 05-04-2011] James Malone NIFSTD:sao676858164 Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH). Non-striated, elongated, spindle-shaped cells found lining the digestive tract, uterus, and blood vessels. They are derived from specialized myoblasts (myoblasts, smooth muscle) (MSH).[accessedResource: NIFSTD:sao676858164][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000703 non-striated muscle cell non-striated muscle cell[accessedResource: CL:0000192][accessDate: 05-04-2011] smooth muscle fiber smooth muscle fiber[accessedResource: CL:0000192][accessDate: 05-04-2011] cochlear hair cell A mechanoreceptor cell located in the inner ear that is sensitive to auditory stimuli. The accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system. A mechanoreceptor cell located in the inner ear that is sensitive to auditory stimuli. The accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system.[accessedResource: CL:0000202][accessDate: 05-04-2011] A mechanoreceptor cell located in the organ of Corti that is sensitive to auditory stimuli and in the vestibular apparatus that is sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system. James Malone NIFSTD:sao630986029 Tomasz Adamusiak auditory hair cell auditory hair cell[accessedResource: CL:0000202][accessDate: 05-04-2011] auditory receptor cell auditory receptor cell[accessedResource: CL:0000202][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000358 electrically active cell A cell whose function is determined by the generation or the reception of an electric signal. cell Sertoli cell A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier. A supporting cell projecting inward from the basement membrane of seminiferous tubules. They surround and nourish the developing male germ cells and secrete androgen binding protein. Their tight junctions with the spermatogonia and spermatocytes provide a blood-testis barrier.[accessedResource: CL:0000216][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002447 Schwann cell A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons. A neuroglial cell of the peripheral nervous system which forms the insulating myelin sheaths of peripheral axons.[accessedResource: CL:0000218][accessDate: 05-04-2011] James Malone Neurilemmal cell Neurilemmal cell[accessedResource: CL:0000218][accessDate: 05-04-2011] Peripheral neuroglial cell http://www.ebi.ac.uk/efo/EFO_0002000 myelinating Schwann cell myelinating Schwann cell[accessedResource: CL:0000218][accessDate: 05-04-2011] mesodermal cell A cell of the middle germ layer of the embryo. A cell of the middle germ layer of the embryo.[accessedResource: CL:0000222][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0000587 mesoblast mesoblast[accessedResource: CL:0000222][accessDate: 05-04-2011] mesoderm cell mesoderm cell[accessedResource: CL:0000222][accessDate: 05-04-2011] erythrocyte A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen. A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen.[accessedResource: CL:0000232][accessDate: 05-04-2011] A red blood cell. In mammals, mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood. Any of the hemoglobin-containing cells that carry oxygen to the tissues and are responsible for the red color of vertebrate blood.[accessedResource: BTO:0000424][accessDate: 05-04-2011] BTO:0000424 James Malone RBC RBC[accessedResource: CL:0000232][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000477 red blood cell red blood cell[accessedResource: CL:0000232][accessDate: 05-04-2011] red blood corpuscle platelet A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. A non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation.[accessedResource: CL:0000233][accessDate: 05-04-2011] James Malone MSH:D001792 Tomasz Adamusiak blood platelet blood platelet[accessedResource: CL:0000233][accessDate: 05-04-2011] blood platelets http://www.ebi.ac.uk/efo/EFO_0000656 thrombocyte true macrophage A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells. A mononuclear phagocyte present in variety of tissues, typically differentiated from monocytes, capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells.[accessedResource: CL:0000235][accessDate: 05-04-2011] A mononuclear phagocyte which differentiates from monocytes, is typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells (Cell Ontology). A mononuclear phagocyte which differentiates from monocytes, is typically resident in a particular tissue, and capable of phagocytosing a variety of extracellular particulate material, including immune complexes, microorganisms, and dead cells (Cell Ontology).[accessedResource: NIFSTD:sao185843373][accessDate: 05-04-2011] BTO:0000801 James Malone NIFSTD:sao185843373 Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells. Relatively long-lived phagocytic cell of mammalian tissues, derived from blood monocyte. Macrophages from different sites have distinctly different properties. Main types are peritoneal and alveolar macrophages, tissue macrophages (histiocytes), Kuppfer cells of the liver, and osteoclasts. In response to foreign materials may become stimulated or activated. Macrophages play an important role in killing of some bacteria, protozoa, and tumour cells, release substances that stimulate other cells of the immune system, and are involved in antigen presentation. May further differentiate within chronic inflammatory lesions to epithelioid cells or may fuse to form foreign body giant cells or Langhans' giant cells.[accessedResource: BTO:0000801][accessDate: 05-04-2011] Tomasz Adamusiak bone marrow-derived macrophage histiocyte histiocyte[accessedResource: CL:0000235][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000575 macrophagocyte monocyte-derived macrophage B cell A lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. A lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.[accessedResource: CL:0000236][accessDate: 05-04-2011] A lymphocyte of B lineage with the phenotype CD19-positive and surface immunoglobulin-positive. B Cells B Cells[accessedResource: NCIt:C12474][accessDate: 05-04-2011] B Lymphocytes B Lymphocytes[accessedResource: NCIt:C12474][accessDate: 05-04-2011] B lymphocyte B lymphocyte[accessedResource: CL:0000236][accessDate: 05-04-2011] B-Cells B-Cells[accessedResource: NCIt:C12474][accessDate: 05-04-2011] B-Lymphocyte[accessedResource: NCIt:C12474][accessDate: 05-04-2011] B-Lymphocytes B-Lymphocytes[accessedResource: NCIt:C12474][accessDate: 05-04-2011] B-cell B-cell[accessedResource: CL:0000236][accessDate: 05-04-2011] B-lymphocyte Bursa-Dependent Lymphocytes Bursa-Dependent Lymphocytes[accessedResource: NCIt:C12474][accessDate: 05-04-2011] Bursa-Equivalent Lymphocyte Bursa-Equivalent Lymphocyte[accessedResource: NCIt:C12474][accessDate: 05-04-2011] Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins. Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins.[accessedResource: NCIt:C12474][accessDate: 05-04-2011] James Malone NCIt:C12474 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000101 megaspore A haploid (1n) spore developing into a female gametophyte in heterosporous plants. A haploid (1n) spore developing into a female gametophyte in heterosporous plants.[accessedResource: CL:0000250][accessDate: 05-04-2011] James Malone MAT:0000214 OntologyMappingImporter following MAT:0000214 PO:0020019 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001001 microspore A haploid (1n) spore developing into a male gametophyte in heterosporous plants; the uninucleate pollen grain in seed plants. A haploid (1n) spore developing into a male gametophyte in heterosporous plants; the uninucleate pollen grain in seed plants.[accessedResource: CL:0000252][accessDate: 05-04-2011] BTO:0000124 BTO:0001097 GRO:0005650 Haploid cells produced by meiosis in the anthers of angiosperms; four microspores are produced from a single microsporocyte. Haploid cells produced by meiosis in the anthers of angiosperms; four microspores are produced from a single microsporocyte.[accessedResource: BTO:0000124][accessDate: 05-04-2011] James Malone MAT:0000215 MAT:0000216 PO:0020048 PO:0020097 The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity. The structure into which a haploid microspore develops; contains a halpoid tube nucleus and two haploid sperm nuclei at maturity.[accessedResource: BTO:0001097][accessDate: 05-04-2011] Tomasz Adamusiak generative cell (male) http://www.ebi.ac.uk/efo/EFO_0001002 http://www.ebi.ac.uk/efo/EFO_0001003 microspore[accessedResource: CL:0000252][accessDate: 05-04-2011] pollen pollen grain hyphal cell A cell of a filament of a fungal mycelium. cell guard cell One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor. One of a pair of cells flanking the stomatal pore and causing the opening and closing of the pore by changes in turgor.[accessedResource: CL:0000292][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002435 stomatal guard cell stomatal guard cell[accessedResource: CL:0000292][accessDate: 05-04-2011] keratinocyte An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell. An epidermal cell which synthesizes keratin and undergoes a characteristic change as it moves upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.[accessedResource: CL:0000312][accessDate: 05-04-2011] BTO:0000667 James Malone Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin. Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis. Skin cell, of the keratinized layer of epidermis: its characteristic intermediate filament protein is cytokeratin.nA cell of the stratum spinosum of the epidermis.[accessedResource: BTO:0000667][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000560 malpighian cell malpighian cell[accessedResource: CL:0000312][accessDate: 05-04-2011] NHEK normal human epidermal keratinocyte neural crest cell A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells. A cell of the strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells.[accessedResource: CL:0000333][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0000619 adrenal gland A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation. A cell found within the adrenal medulla that secrete biogenic amine hormones upon stimulation.[accessedResource: CL:0000336][accessDate: 05-04-2011] A flattened, roughly triangular body resting upon the upper end of each kidney; it is one of the ductless glands furnishing internal secretions (epinephrine and norepinephrine from the medulla and steroid hormones from the cortex). A flattened, roughly triangular body resting upon the upper end of each kidney; it is one of the ductless glands furnishing internal secretions (epinephrine and norepinephrine from the medulla and steroid hormones from the cortex).[accessedResource: NCIt:C12666][accessDate: 05-04-2011] Adrenal Glands Adrenal Glands[accessedResource: NCIt:C12666][accessDate: 05-04-2011] Adrenals Adrenals[accessedResource: NCIt:C12666][accessDate: 05-04-2011] BTO:0000047 EMAPA:18426 EV:0100135 Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine. Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine.[accessedResource: BTO:0000047][accessDate: 05-04-2011] FMAID:9604 James Malone MA:0000116 MAT:0000071 NCIt:C12666 SAEL:3 Suprarenal gland Suprarenal gland[accessedResource: FMAID:9604][accessDate: 05-04-2011] TAO:0009167 Tomasz Adamusiak XAO:0000164 adrenal adrenal capsule adrenal medulla cell adrenal medulla cell[accessedResource: TAO:0009167][accessDate: 05-04-2011] adrenal medulla chromaffin cell adrenal medulla chromaffin cell[accessedResource: CL:0000336][accessDate: 05-04-2011] atrabiliary capsule chromafin cell chromafin cell[accessedResource: CL:0000336][accessDate: 05-04-2011] epinephros glandula suprarenalis http://www.ebi.ac.uk/efo/EFO_0000238 suprarenal capsule neuroblast (sensu Vertebrata) An embryonic cell that develops into a nerve cell or neuron. An embryonic cell that develops into a nerve cell or neuron.[accessedResource: CL:0000337][accessDate: 05-04-2011] James Malone Tomasz Adamusiak adrenal neuroblast http://www.ebi.ac.uk/efo/EFO_0000620 neuroblast neuroblast[accessedResource: CL:0000031][accessDate: 05-04-2011] hair follicle dermal papilla cell HFDPC A specialized mesenchymal cell that resides in the dermal papilla located at the bottom of hair follicles. This cell plays a pivotal roles in hair formation, growth, and cycling. Helen Parkinson epiblast cell A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation. A cell of the outer layer of a blastula that gives rise to the ectoderm after gastrulation.[accessedResource: CL:0000352][accessDate: 05-04-2011] James Malone epiblast stem cell http://www.ebi.ac.uk/efo/EFO_0000471 zygote Diploid cell produced by the fusion of sperm cell nucleus and egg cell. Diploid cell produced by the fusion of sperm cell nucleus and egg cell.[accessedResource: CL:0000365][accessDate: 05-04-2011] The stage at which a diploid cell is produced by the fusion of sperm cell nucleus and egg cell. Tomasz Adamusiak ZFS:0000001 Zygote:1-cell Zygote:1-cell[accessedResource: ZFS:0000001][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002952 protoplast The cell protoplasm after removal of the cell wall. The cell protoplasm after removal of the cell wall.[accessedResource: CL:0000371][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002445 ligament cell Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003080 prohemocyte (sensu Nematoda and Protostomia) hemocyte A blood cell especially of an invertebrate animal. A blood cell especially of an invertebrate animal.[accessedResource: BTO:0000571][accessDate: 05-04-2011] BTO:0000571 Tomasz Adamusiak haematocyte haemocyte hematocyte hemocyte (sensu Nematoda and Protostomia) hemocyte (sensu Nematoda and Protostomia)[accessedResource: CL:0000387][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002450 connective tissue BTO:0000421 Bindegewebe EV:0100150 FMAID:9640 James Malone MAT:0000301 Portion of connective tissue Portion of connective tissue[accessedResource: FMAID:9640][accessDate: 05-04-2011] SAEL:23 TAO:0009189 The tissue which binds together and is the support of the various structures of the body. It is made up of fibroblasts, fibroglia, collagen fibrils, and elastic fibrils. It is derived from the mesoderm and in a broad sense includes the collagenous, elastic, mucous, reticular, osseous, and cartilaginous tissue. Some also include the blood in this group of tissues. Connective tissue is classified according to concentration of fibers as loose (areolar) and dense, the latter having more abundant fibers than the former. The tissue which binds together and is the support of the various structures of the body. It is made up of fibroblasts, fibroglia, collagen fibrils, and elastic fibrils. It is derived from the mesoderm and in a broad sense includes the collagenous, elastic, mucous, reticular, osseous, and cartilaginous tissue. Some also include the blood in this group of tissues. Connective tissue is classified according to concentration of fibers as loose (areolar) and dense, the latter having more abundant fibers than the former.[accessedResource: BTO:0000421][accessDate: 05-04-2011] Tissue which consists of fibroblasts, osteocytes or chondrocytes and intercellular matrix produced by these cells. Examples: bone (tissue), dense regular elastic tissue, areolar tissue, neuroglia, adipose tissue. Tomasz Adamusiak XAO:0000173 fascia http://www.ebi.ac.uk/efo/EFO_0000952 muscle attachment cell muscle attachment cell[accessedResource: CL:0000388][accessDate: 05-04-2011] tendon tendon cell tendon cell[accessedResource: CL:0000388][accessDate: 05-04-2011] blood cell (sensu Nematoda and Protostomia) crystal cell A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982). A cell that is slightly larger than the plasmatocytes and is distinguished by containing large crystalline inclusions that are not membrane bound (Brehelin, 1982).[accessedResource: FBbt:00001690][accessDate: 05-04-2011] FBbt:00001690 James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000385 diploid cell A cell whose nucleus has two haploid genomes. FMA:72300 cell coelomocyte A free floating cell, including amebocytes and eleocytes, in the coelom of certain animals, especially annelids. BTO:0002856 WBbt:0005751 cell follicular dendritic cell Due to its unique lineage and distinct function, this is not a type of dendritic cell; CL:0000451. BTO:0004267 A cell with extensive dendritic processes found in the B cell areas (primary follicles and germinal centers) of lymphoid tissue. They are unrelated to the dendritic cell associated with T cells. Follicular dendritic cells have Fc receptors and C3b receptors, but unlike other dendritic cells, they do not process or present antigen in a way that allows recognition by T cells. Instead, they hold antigen in the form of immune complexes on their surfaces for long periods and can present antigen to B cells during an immune response. cell ISBN:127520252 FMA:83037 parathyroid An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone. An epithelial cell of the parathyroid gland that is arranged in wide, irregular interconnecting columns; responsible for the synthesis and secretion of parathyroid hormone.[accessedResource: CL:0000446][accessDate: 05-04-2011] Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone. Any of usually four small endocrine glands that are adjacent to or embedded in the thyroid gland and produce parathyroid hormone.[accessedResource: BTO:0000997][accessDate: 05-04-2011] BTO:0000997 EHDAA:3864 EHDAA:3870 EV:0100134 FMAID:13890 James Malone MA:0000128 Parathyroid chief cell Parathyroid chief cell[accessedResource: CL:0000446][accessDate: 05-04-2011] Parathyroid gland Parathyroid gland chief cell Parathyroid gland chief cell[accessedResource: CL:0000446][accessDate: 05-04-2011] Principal cell of parathyroid gland Principal cell of parathyroid gland[accessedResource: CL:0000446][accessDate: 05-04-2011] TAO:0009207 Tomasz Adamusiak XAO:0000167 chief cell chief cell of parathyroid gland chief cell of parathyroid gland[accessedResource: CL:0000446][accessDate: 05-04-2011] chief cell[accessedResource: TAO:0009207][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000862 parathyroid gland[accessedResource: BTO:0000997][accessDate: 05-04-2011] parathyroid hormone secreting cell parathyroid hormone secreting cell[accessedResource: CL:0000446][accessDate: 05-04-2011] brown fat cell A cell from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals. Brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation. A cell from the thermogenic form of adipose tissue found in newborns of many species, including humans, and in hibernating mammals. Brown fat is capable of rapid liberation of energy and seems to be important in the maintenance of body temperature immediately after birth and upon waking from hibernation.[accessedResource: CL:0000449][accessDate: 05-04-2011] Brown adipocyte Brown adipocyte[accessedResource: CL:0000449][accessDate: 05-04-2011] Brown adipose cell Brown adipose cell[accessedResource: CL:0000449][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0001998 dendritic cell A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. A cell of hematopoietic origin, typically resident in particular tissues, specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation.[accessedResource: CL:0000451][accessDate: 05-04-2011] A special type of cell that is a key regulator of the immune system, acting as a professional antigen-presenting cell, APC, capable of activating naive T cells and stimulating the growth and differentiation of B cells. Dendritic cells are found, for example, in the lymph nodes and spleen. As an APC, a dendritic cell can retain antigen for long periods on its surface, present the antigen to a T or B cell and so influence their behavior. A special type of cell that is a key regulator of the immune system, acting as a professional antigen-presenting cell, APC, capable of activating naive T cells and stimulating the growth and differentiation of B cells. Dendritic cells are found, for example, in the lymph nodes and spleen. As an APC, a dendritic cell can retain antigen for long periods on its surface, present the antigen to a T or B cell and so influence their behavior.[accessedResource: BTO:0002042][accessDate: 05-04-2011] BTO:0002042 CL:0000451 James Malone Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum. Large, stellate fibroblast found along the network of collagen fibers of the reticulum of the spleen; synthesize the matrix components of the reticulum.[accessedResource: CL:0000432][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000396 interdigitating cell reticular cell reticular cell[accessedResource: CL:0000432][accessDate: 05-04-2011] reticulum cell reticulum cell[accessedResource: CL:0000432][accessDate: 05-04-2011] veiled cell Langerhans cell follicle cell James Malone http://www.ebi.ac.uk/efo/EFO_0000498 connective tissue type mast cell mucosal type mast cell CD4-positive helper T cell stromal cell A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere. A connective tissue cell of an organ found in the loose connective tissue. These are most often associated with the uterine mucosa and the ovary as well as the hematopoietic system and elsewhere.[accessedResource: CL:0000499][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002448 granulosa cell A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors. A supporting cell for the developing female gamete in the ovary of mammals. They develop from the coelomic epithelial cells of the gonadal ridge. Granulosa cells form a single layer around the mammalian oocyte in the primordial ovarian follicle and advance to form a multilayered cumulus oophorus surrounding the ovum in the Graafian follicle. The major functions of granulosa cells include the production of steroids and LH receptors.[accessedResource: CL:0000501][accessDate: 05-04-2011] TO:0000542 granulosa cell of ovary granulosa cell of ovary[accessedResource: CL:0000501][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002664 smooth muscle myoblast A precursor cell destined to differentiate into smooth muscle myocytes. A precursor cell destined to differentiate into smooth muscle myocytes.[accessedResource: CL:0000514][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002452 satellite cell skeletal muscle myoblast A myoblast that differentiates into skeletal muscle fibers. HSMM http://purl.obolibrary.org/obo/CL_0000515 Helen Parkinson prokaryotic cell cell fungal cell cell syncytiotrophoblast cell A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy. A cell from the outer syncytial layer of the trophoblast of an early mammalian embryo. It It secretes hCG in order to maintain progesterone secretion and sustain a pregnancy.[accessedResource: CL:0000525][accessDate: 05-04-2011] Tomasz Adamusiak plasmidotrophoblast plasmidotrophoblast[accessedResource: CL:0000525][accessDate: 05-04-2011] syncytial trophoblast syncytial trophoblast[accessedResource: CL:0000525][accessDate: 05-04-2011] syntrophoblast syntrophoblast[accessedResource: CL:0000525][accessDate: 05-04-2011] neuron A grayish or reddish granular cell with specialized processes that is the fundamental functional unit of nervous tissue. A grayish or reddish granular cell with specialized processes that is the fundamental functional unit of nervous tissue.[accessedResource: BTO:0000938][accessDate: 05-04-2011] BTO:0000938 James Malone NIFSTD:sao1417703748 The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.[accessedResource: CL:0000540][accessDate: 05-04-2011] The basic cellular units of nervous tissue. Neurons are polarized cells with defined regions consisting of the cell body, an axon, and dendrites, although some types of neurons lack axons or dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000623 nerve cell nerve cell[accessedResource: CL:0000540][accessDate: 05-04-2011] neuron cell neuron cell[accessedResource: NIFSTD:sao1417703748][accessDate: 05-04-2011] neuronal cell lymphocyte A cell of the B cell, T cell, or natural killer cell lineage. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin.[accessedResource: CL:0000542][accessDate: 05-04-2011] Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood. Any of the colorless weakly motile cells originating from stem cells and differentiating in lymphoid tissue (as of the thymus or bone marrow) that are the typical cellular elements of lymph, include the cellular mediators of immunity, and constitute 20 to 30 percent of the white blood cells of normal human blood.[accessedResource: BTO:0000775][accessDate: 05-04-2011] BTO:0000775 James Malone MSH:D008214 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000573 lymphocytes true T-helper 1 cell T-helper 2 cell proerythroblast An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. An immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.[accessedResource: CL:0000547][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002537 pronormoblast rubriblast rubriblast[accessedResource: CL:0000547][accessDate: 05-04-2011] basophilic erythroblast A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers. A nucleated immature erythrocyte, having cytoplasm generally similar to that of the earlier proerythroblast but sometimes even more basophilic, and usually regular in outline. The nucleus is still relatively large, but the chromatin strands are thicker and more deeply staining, giving a coarser appearance; the nucleoli have disappeared. This cell is CD71-positive and lacks hematopoeitic lineage markers.[accessedResource: CL:0000549][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak basophilic normoblast basophilic normoblast[accessedResource: CL:0000549][accessDate: 05-04-2011] early erythroblast early erythroblast[accessedResource: CL:0000549][accessDate: 05-04-2011] early normoblast early normoblast[accessedResource: CL:0000549][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002738 prorubricyte prorubricyte[accessedResource: CL:0000549][accessDate: 05-04-2011] polychromatophilic erythroblast orthochromatic erythroblast megakaryocyte progenitor cell James Malone The earliest cytologically identifiable precursor in the thrombocytic series. The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative). The earliest cytologically identifiable precursor in the thrombocytic series. This cell is capable of endomitosis and lacks expression of hematopoieitic lineage markers (lin-negative).[accessedResource: CL:0000553][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000583 megacaryoblast megacaryoblast[accessedResource: CL:0000553][accessDate: 05-04-2011] megacaryocyte progenitor cell megacaryocyte progenitor cell[accessedResource: CL:0000553][accessDate: 05-04-2011] megakaryoblast megakaryoblast[accessedResource: CL:0000553][accessDate: 05-04-2011] promegacaryocyte promegakaryocyte megakaryocyte A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm. A giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm.[accessedResource: CL:0000556][accessDate: 05-04-2011] A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets. A large cell that has a lobulated nucleus, is found especially in the bone marrow, and is the source of blood platelets.[accessedResource: BTO:0000843][accessDate: 05-04-2011] BTO:0000843 James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000582 megacaryocyte megacaryocyte[accessedResource: CL:0000556][accessDate: 05-04-2011] megalocaryocyte megalocaryocyte[accessedResource: CL:0000556][accessDate: 05-04-2011] megalokaryocyte megalokaryocyte[accessedResource: CL:0000556][accessDate: 05-04-2011] granulocyte monocyte progenitor cell A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata-1, Gata2 but do express C/EBPa, and Pu.1. A hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages. These cells are CD123-positive, and do not express Gata-1, Gata2 but do express C/EBPa, and Pu.1.[accessedResource: CL:0000557][accessDate: 05-04-2011] A progenitor cell that has plasma membrane part CD123, CD34, and CD45RA, lacks plasma membrane part CD19 and CD3, and is committed to the granulocyte and monocyte lineages. CFU-C , Colony forming unit in culture CFU-GM CFU-GM[accessedResource: CL:0000557][accessDate: 05-04-2011] GMP GMP[accessedResource: CL:0000557][accessDate: 05-04-2011] Tomasz Adamusiak colony forming unit granulocyte macrophage colony forming unit granulocyte macrophage[accessedResource: CL:0000557][accessDate: 05-04-2011] granulocyte monocyte progenitor cell[accessedResource: CL:0000557][accessDate: 05-04-2011] granulocyte-macrophage progenitor http://www.ebi.ac.uk/efo/EFO_0002663 reticulocyte An immature erythrocyte showing a basophilic reticulum under vital staining. An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds. An immature erythrocyte that changes the protein composition of its plasma membrane by exosome formation and extrusion. The types of protein removed differ between species though removal of the transferrin receptor is apparent in mammals and birds.[accessedResource: CL:0000558][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002538 promonocyte band form neutrophil nucleate erythrocyte neutrophilic promyelocyte monocyte A mononuclear phagocytic leukocyte, 13 to 25 mm in diameter, with an ovoid or kidney-shaped nucleus, containing lacy, linear chromatin and abundant gray-blue cytoplasm filled with fine reddish and azurophilic granules. Formed in the bone marrow from promonocytes, monocytes are transported to tissues such as the lung and liver, where they develop into macrophages. A mononuclear phagocytic leukocyte, 13 to 25 mm in diameter, with an ovoid or kidney-shaped nucleus, containing lacy, linear chromatin and abundant gray-blue cytoplasm filled with fine reddish and azurophilic granules. Formed in the bone marrow from promonocytes, monocytes are transported to tissues such as the lung and liver, where they develop into macrophages.[accessedResource: BTO:0000876][accessDate: 05-04-2011] BTO:0000876 James Malone MSH:D009000 Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells. Myeloid mononuclear recirculating leukocyte that can act as a precursor of tissue macrophages, osteoclasts and some populations of tissue dendritic cells.[accessedResource: CL:0000576][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000593 monocytes mononuclear leukocyte true border follicle cell A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster. A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster. A follicle cell that migrates from the anterior pole of the egg chamber, between the nurse cells, to the anterior of the oocyte where they participate in formation of the micropyle. About 6-10 border cells per egg chamber migrate as a tightly associated cluster.[accessedResource: FBbt:00004905][accessDate: 05-04-2011] FBbt:00004905 Tomasz Adamusiak border cell http://www.ebi.ac.uk/efo/EFO_0002432 neutrophilic myelocyte peritoneal macrophage neutrophilic metamyelocyte alveolar macrophage germ cell Jie Zheng The reproductive cell in multicellular organisms. The reproductive cell in multicellular organisms.[accessedResource: CL:0000586][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002531 odontoclast enucleate erythrocyte pyramidal cell FMA:67310 A projection neuron in the cerebral cortex and the hippocampus. Pyramidal cells have a pyramid-shaped soma with the apex and an apical dendrite pointed toward the pial surface and other dendrites and an axon emerging from the base. The axons may have local collaterals but also project outside their cortical region. FMA:86775 MESH:A08.186.211.577.405.700 pyramidal neuron cell NIF_Cell:sao862606388 BTO:0003102 GOC:tfm projection neuron conidium An asexual, nonmotile spore formed by higher fungi; conidia are usually made from the side or tip of specialized sporogenous cells and do not form by progressive cleavage of the cytoplasm. BTO:0000283 FAO:0000024 cell plant cell A cell found in seeded plants. A cell found in seeded plants.[accessedResource: CL:0000610][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002965 eosinophil progenitor cell eosinophilic myelocyte basophil progenitor cell basophilic myelocyte GABAergic neuron A neuron that uses GABA as a vesicular neurotransmitter A neuron that uses GABA as a vesicular neurotransmitter[accessedResource: CL:0000617][accessDate: 05-04-2011] GABA-ergic neuron GABA-ergic neuron[accessedResource: CL:0000617][accessDate: 05-04-2011] James Malone http://www.ebi.ac.uk/efo/EFO_0000177 acinar cell A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus). A secretory cell that is grouped together with other cells of the same type to form grape shaped clusters known as acini (singular acinus).[accessedResource: CL:0000622][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak acinic cell acinic cell[accessedResource: CL:0000622][accessDate: 05-04-2011] acinous cell acinous cell[accessedResource: CL:0000622][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002530 natural killer cell A large granular lymphocyte capable of killing a tumor or microbial cell without prior exposure to the target cell and without having it presented with or marked by a histocompatibility antigen. A large granular lymphocyte capable of killing a tumor or microbial cell without prior exposure to the target cell and without having it presented with or marked by a histocompatibility antigen.[accessedResource: BTO:0000914][accessDate: 05-04-2011] A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells. A lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors and also regulate immune responses via cytokine release and direct contact with other cells.[accessedResource: CL:0000623][accessDate: 05-04-2011] BTO:0000914 James Malone NK cell NK cell[accessedResource: CL:0000623][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000615 large granular lymphocyte natural killer null cell CD4-positive, alpha-beta T cell CD8-positive, alpha-beta T cell photosynthetic cell A cell that can perform photosynthesis, in which carbohydrates are synthesized from carbon dioxide and water, using light as the energy source. cell see PMID:21177950, The making of a photosynthetic animal. hepatic stellate cell A cell that is found in the perisinusoidal space of the liver that is capable of multiple roles including storage of retinol, presentation of antigen to T cells (including CD1d-restricted NKT cells), and upon activation, production of extracellular matrix components that can contribute to liver fibrosis. This activated state has a myofibroblast-like phenotype, though it's not clear in the literature if this is terminally differentiated. This cell type comprises approximately 8-15% of total cells in the liver. Hepatic stellate cells are CD271-positive, desmin-positive, DDR-2-positive, GFAP-positive, synamin-positive, synaptophysin-positive, vimentin-positive, They are capable of producing angiotensin II, fibronectin, laminin, MMP-1, MMP-2, MMP-3, MMP-9, MMP-11, TGF-beta1, TIMP-1, TIMP-2, type I collagen, type III collagen, type IV collagen, and type VI collagen. BTO:0002741 CALOHA:TS-0452 FMA:67763 Ito cell cell fat-storing cell hepatic perisinusoidal cell lipocyte perisinusoidal cell vitamin A-storing cells basal cell James Malone Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament. Undifferentiated; mitotic stem cell for other epithelial cell types; rounded or elliptical with little cytoplasm and few organelles; contain cytokeratin intermediate filament.[accessedResource: CL:0000646][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0001997 multinucleated giant cell pericyte *Slender, contractile, mesenchymal-like cell found in close association with capillary walls. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. (From OBO Cell Type Ontology). *A flattened, or elongated, stellate-shaped solitary cell with multiple cytoplasmic processes encircling the capillary endothelium and contacting a large abluminal vessel area. It may be equivalent to the vascular smooth muscle cell, although this identify has not been conclusively determined yet (Armulik et al., Circ Res 97: 512, 2005). *Slender, contractile, mesenchymal-like cell found in close association with capillary walls. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. (From OBO Cell Type Ontology). *A flattened, or elongated, stellate-shaped solitary cell with multiple cytoplasmic processes encircling the capillary endothelium and contacting a large abluminal vessel area. It may be equivalent to the vascular smooth muscle cell, although this identify has not been conclusively determined yet (Armulik et al., Circ Res 97: 512, 2005).[accessedResource: NIFSTD:nifext_171][accessDate: 05-04-2011] A slender, contractile, mesenchymal-like cell found in close association with capillary walls. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. (From Stedman, 26th ed). An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells. An elongated, contractile cell found wrapped about precapillary arterioles outside the basement membrane. They are relatively undifferentiated and may become fibroblasts, macrophages, or smooth muscle cells.[accessedResource: CL:0000184][accessDate: 05-04-2011] Cell of Rouget Cell of Rouget[accessedResource: CL:0000184][accessDate: 05-04-2011] Mural Cell Mural Cell[accessedResource: NIFSTD:nifext_171][accessDate: 05-04-2011] NIFSTD:nifext_171 Pericyte of Rouget Pericyte of Rouget[accessedResource: CL:0000669][accessDate: 05-04-2011] Rouget Cell Rouget Cell[accessedResource: NIFSTD:nifext_171][accessDate: 05-04-2011] Tomasz Adamusiak adventitial cell adventitial cell[accessedResource: CL:0000669][accessDate: 05-04-2011] adventitial reticular cell adventitial reticular cell[accessedResource: CL:0000669][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002444 pericyte cell pericyte cell[accessedResource: CL:0000184][accessDate: 05-04-2011] primordial germ cell A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells. A primordial germ cell is a diploid germ cell precursors that transiently exist in the embryo before they enter into close association with the somatic cells of the gonad and become irreversibly committed as germ cells.[accessedResource: CL:0000670][accessDate: 05-04-2011] Gonocyte Gonocyte[accessedResource: CL:0000670][accessDate: 05-04-2011] James Malone Primitive germ cell Primitive germ cell[accessedResource: CL:0000670][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000670 glutamatergic neuron James Malone http://www.ebi.ac.uk/efo/EFO_0000521 dopaminergic neuron A neuron that releases dopamine as a neurotransmitter. dopaminergic cell cumulus cell Cumulus cell is a specialized granulosa cell that surrounds and nourishes the oocyte. This cell-type surrounds the fully-grown oocyte to form a cumulus-oocyte complex (abbr. COC). The terms cumulus oophorus cells, cumulus granulosa cells, cumulus oophorous granulosa cells, granulosa-cumulus cells are used to make a distinction between this cell and the other functionally different subpopulation of granulosa cells at the wall of the Graafian follicle. BTO:0002236 cell leukocyte A nucleated cell of the myeloid or lymphoid lineages, found in blood or other tissue. An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue. An achromatic cell of the myeloid or lymphoid lineages capable of ameboid movement, found in blood or other tissue.[accessedResource: CL:0000738][accessDate: 05-04-2011] Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils. Any of the blood cells that are colorless, lack hemoglobin, contain a nucleus, and include the lymphocytes, monocytes, neutrophils, eosinophils, and basophils.[accessedResource: BTO:0000751][accessDate: 05-04-2011] BTO:0000751 James Malone PMN cell PMNC Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000566 immune cell immune cell[accessedResource: CL:0000738][accessDate: 05-04-2011] leucocyte leucocyte[accessedResource: CL:0000738][accessDate: 05-04-2011] polymorphonuclear cell white blood cell white blood cell type white blood cell types white blood cell[accessedResource: CL:0000738][accessDate: 05-04-2011] cardiac myocyte A heart muscle cell. A heart muscle cell.[accessedResource: BTO:0001539][accessDate: 05-04-2011] A myocyte located in the heart. The contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei. A myocyte located in the heart. The contractile fiber resembles those of skeletal muscle but are only one third as large in diameter, are richer in sarcoplasm, and contain centrally located instead of peripheral nuclei.[accessedResource: CL:0000746][accessDate: 05-04-2011] A striated muscle cell found in the heart. They develop from cardiac myoblasts. A striated muscle cell found in the heart. They develop from cardiac myoblasts.[accessedResource: CL:0000193][accessDate: 05-04-2011] BTO:0001539 James Malone NIFSTD:sao658938043 Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH). Striated muscle cells found in the heart. They are derived from cardiac myoblasts (myoblasts, cardiac (MSH).[accessedResource: NIFSTD:sao658938043][accessDate: 05-04-2011] Tomasz Adamusiak cardiac muscle cell cardiac muscle cell (sensu Arthopoda) cardiac muscle cell (sensu Arthopoda)[accessedResource: CL:0000193][accessDate: 05-04-2011] cardiac muscle cell[accessedResource: CL:0000746][accessDate: 05-04-2011] cardiocyte cardiocyte[accessedResource: CL:0000193][accessDate: 05-04-2011] cardiomyocyte cardiomyocyte[accessedResource: CL:0000746][accessDate: 05-04-2011] heart muscle cell heart muscle cell[accessedResource: CL:0000193][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000316 nucleated thrombocyte myeloid cell A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage. A cell of the monocyte, granulocyte, mast cell, megakaryocyte, or erythroid lineage.[accessedResource: CL:0000763][accessDate: 05-04-2011] Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis. Any of the immature blood cells that develop in the bone marrow, such as those involved in hematopoiesis.[accessedResource: BTO:0001441][accessDate: 05-04-2011] BTO:0001441 James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000610 marrow cell marrow cell[accessedResource: BTO:0001441][accessDate: 05-04-2011] erythroid lineage cell A immature or mature cell in the lineage leading to and including erythrocytes. erythroblast A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers. A nucleated precursor of an erythrocyte that lacks hematopoietic lineage markers.[accessedResource: CL:0000765][accessDate: 05-04-2011] A nucleated precursor of an erythrocyte. James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001999 normoblast normoblast[accessedResource: CL:0000765][accessDate: 05-04-2011] myeloid leukocyte basophil Dani Welter Granular leukocytes characterized by a relatively pale-staining, lobate nucleus and cytoplasm containing coarse dark-staining granules of variable size and stainable by basic dyes. MSH:D001491 basophils true immature basophil basophilic metamyelocyte band form basophil eosinophil Dani Welter Granular leukocytes with a nucleus that usually has two lobes connected by a slender thread of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and stainable by eosin. MSH:D004804 eosinophils true immature eosinophil eosinophilic metamyelocyte band form eosinophil neutrophil A fully differentiated basophil, a granular leukocyte with an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. A fully differentiated basophil, a granular leukocyte with an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation.[accessedResource: CL:0000043][accessDate: 05-04-2011] A fully differentiated basophil, a granular leukocyte with an irregularly shaped, pale-staining nucleus that is partially constricted into two lobes, and with cytoplasm that contains coarse, bluish-black granules of variable size. Basophils contain vasoactive amines such as histamine and serotonin, which are released on appropriate stimulation. Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes. Any of the immature or mature forms of a granular leukocyte that in its mature form has a nucleus with three to five lobes connected by slender threads of chromatin, and cytoplasm containing fine inconspicuous granules and stainable by neutral dyes.[accessedResource: CL:0000775][accessDate: 05-04-2011] Ele Holloway James Malone MSH:D009504 PMN Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002480 mature basophil leucocyte[accessedResource: CL:0000043][accessDate: 05-04-2011] mature basophil leukocyte[accessedResource: CL:0000043][accessDate: 05-04-2011] mature basophil[accessedResource: CL:0000043][accessDate: 05-04-2011] neutrocyte neutrocyte[accessedResource: CL:0000775][accessDate: 05-04-2011] neutrophil leucocyte neutrophil leucocyte[accessedResource: CL:0000775][accessDate: 05-04-2011] neutrophil leukocyte neutrophil leukocyte[accessedResource: CL:0000775][accessDate: 05-04-2011] neutrophilic leucocyte neutrophilic leucocyte[accessedResource: CL:0000775][accessDate: 05-04-2011] neutrophilic leukocyte neutrophilic leukocyte[accessedResource: CL:0000775][accessDate: 05-04-2011] neutrophils poly polymorphonuclear leucocyte polymorphonuclear leukocyte polymorphonuclear neutrophil polynuclear neutrophilic leucocyte polynuclear neutrophilic leukocyte true immature neutrophil mesangial phagocyte A tissue-resident macrophage of the renal glomerular mesangium involved in the disposal and degradation of filtration residues, presentation of antigen to T cells and in tissue remodeling. A tissue-resident macrophage of the renal glomerular mesangium involved in the disposal and degradation of filtration residues, presentation of antigen to T cells and in tissue remodeling.[accessedResource: CL:0000777][accessDate: 05-04-2011] A tissue-resident macrophage of the renal glomerular mesangium. James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000585 mesangial cell mononuclear osteoclast multinuclear osteoclast multinuclear odontoclast mononuclear odontoclast myeloid dendritic cell plasmacytoid dendritic cell A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection. A dendritic cell type of distinct morphology, localization, and surface marker expression from other dendritic cell types and associated with early stage immune responses, particularly the release of physiologically abundant amounts of type I interferons in response to infection.[accessedResource: CL:0000784][accessDate: 05-04-2011] DC2 DC2[accessedResource: CL:0000784][accessDate: 05-04-2011] IPC IPC[accessedResource: CL:0000784][accessDate: 05-04-2011] James Malone T-associated plasma cell T-associated plasma cell[accessedResource: CL:0000784][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000655 interferon-producing cell interferon-producing cell[accessedResource: CL:0000784][accessDate: 05-04-2011] lymphoid dendritic cell lymphoid dendritic cell[accessedResource: CL:0000784][accessDate: 05-04-2011] pDC pDC[accessedResource: CL:0000784][accessDate: 05-04-2011] plasmacytoid T cell plasmacytoid T cell[accessedResource: CL:0000784][accessDate: 05-04-2011] plasmacytoid monocyte plasmacytoid monocyte[accessedResource: CL:0000784][accessDate: 05-04-2011] mature B cell 721 B lymphoblasts A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen. A B cell that is mature, having left the bone marrow. Initially, these cells are IgM-positive and IgD-positive, and they can be activated by antigen.[accessedResource: CL:0000785][accessDate: 05-04-2011] James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000578 mature B lymphocyte mature B lymphocyte[accessedResource: CL:0000785][accessDate: 05-04-2011] mature B-cell mature B-cell[accessedResource: CL:0000785][accessDate: 05-04-2011] mature B-lymphocyte mature B-lymphocyte[accessedResource: CL:0000785][accessDate: 05-04-2011] plasma cell A terminally differentiated cell of the B lymphocyte lineage that produces antibodies; plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern. A terminally differentiated cell of the B lymphocyte lineage that produces antibodies; plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern.[accessedResource: BTO:0000392][accessDate: 05-04-2011] A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin. A terminally differentiated, post-mitotic, antibody secreting cell of the B cell lineage with the phenotype CD138-positive, surface immunonoglobulin-negative, and MHC Class II-negative. Plasma cells are oval or round with extensive rough endoplasmic reticulum, a well-developed Golgi apparatus, and a round nucleus having a characteristic cartwheel heterochromatin pattern and are devoted to producing large amounts of immunoglobulin.[accessedResource: CL:0000786][accessDate: 05-04-2011] BTO:0000392 James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000654 plasmacyte plasmacyte[accessedResource: CL:0000786][accessDate: 05-04-2011] plasmocyte memory B cell naive B cell alpha-beta T cell immature alpha-beta T cell mature alpha-beta T cell CD4-positive, CD25-positive, alpha-beta regulatory T cell CD4-positive, alpha-beta intraepithelial T cell CD8-positive, alpha-beta cytotoxic T cell CD8-positive, alpha-beta regulatory T cell CD8-alpha-beta-positive, alpha-beta intraepithelial T cell alpha-beta intraepithelial T cell gamma-delta T cell immature gamma-delta T cell mature gamma-delta T cell gamma-delta intraepithelial T cell CD8-alpha alpha positive, gamma-delta intraepithelial T cell CD4-negative CD8-negative gamma-delta intraepithelial T cell immature single positive thymocyte DN2 thymocyte DN3 thymocyte DN4 thymocyte double-positive, alpha-beta thymocyte A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors. A thymocyte expressing the alpha-beta T cell receptor complex as well as both the CD4 and CD8 coreceptors.[accessedResource: CL:0000809][accessDate: 05-04-2011] DP cell DP cell[accessedResource: CL:0000809][accessDate: 05-04-2011] DP thymocyte James Malone Tomasz Adamusiak double-positive, alpha-beta immature T lymphocyte double-positive, alpha-beta immature T lymphocyte[accessedResource: CL:0000809][accessDate: 05-04-2011] double-positive, alpha-beta thymocyte[accessedResource: CL:0000809][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000171 nontransformed thymocyte CD4-positive, alpha-beta thymocyte CD8-positive, alpha-beta thymocyte memory T cell A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time. A T-cell that bears receptors for a specific foreign antigen encountered during a prior infection or vaccination. After an infection or a vaccination, some of the T-cells that participated in the response remain as memory T-cells, which can rapidly mobilize and clone themselves should the same antigen be re-encountered during a second infection at a later time.[accessedResource: BTO:0003435][accessDate: 05-04-2011] A distinctly differentiated long-lived T cell that has the phenotype CD45RO-positive and CD127-positive. A distinctly differentiated long-lived T cell that has the phenotype CD45RO-positive and CD127-positive.[accessedResource: CL:0000813][accessDate: 05-04-2011] BTO:0003435 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002438 memory T cell[accessedResource: CL:0000813][accessDate: 05-04-2011] memory T lymphocyte memory T lymphocyte[accessedResource: CL:0000813][accessDate: 05-04-2011] memory T-lymphocyte memory T-lymphocyte[accessedResource: CL:0000813][accessDate: 05-04-2011] mature NK T cell regulatory T cell A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release. A T cell which regulates overall immune responses as well as the responses of other T cell subsets through direct cell-cell contact and cytokine release.[accessedResource: CL:0000815][accessDate: 05-04-2011] James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000680 pancreatic T regulatory cell regulatory T cell[accessedResource: CL:0000815][accessDate: 05-04-2011] regulatory T lymphocyte regulatory T lymphocyte[accessedResource: CL:0000815][accessDate: 05-04-2011] regulatory T-cell regulatory T-lymphocyte regulatory T-lymphocyte[accessedResource: CL:0000815][accessDate: 05-04-2011] suppressor T-cell suppressor T-lymphocyte immature B cell An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation. An immature B cell is a precursor B cell that has the phenotype surface IgM-positive and surface IgD-negative, and have not undergone class immunoglobulin class switching or peripheral encounter with antigen and activation.[accessedResource: CL:0000816][accessDate: 05-04-2011] James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000539 immature B lymphocyte immature B lymphocyte[accessedResource: CL:0000816][accessDate: 05-04-2011] immature B-cell immature B-cell[accessedResource: CL:0000816][accessDate: 05-04-2011] immature B-lymphocyte immature B-lymphocyte[accessedResource: CL:0000816][accessDate: 05-04-2011] newly formed B Cell newly formed B Cell[accessedResource: CL:0000816][accessDate: 05-04-2011] precursor B cell A precursor B cell is a B cell with the phenotype CD10-positive (P08473/NEP_HUMAN; PIRSF001194). A precursor B cell is a B cell with the phenotype CD10-positive. A precursor B cell is a B cell with the phenotype CD10-positive.[accessedResource: CL:0000817][accessDate: 05-04-2011] B-cell precursor James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000667 pre-B cell pre-BI cell precursor B cell[accessedResource: CL:0000817][accessDate: 05-04-2011] transitional stage B cell B-1 B cell B-1a B cell B-1b B cell B-2 B cell A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative. A conventional B cell subject to antigenic stimulation and dependent on T cell help and with a distinct surface marker expression pattern from B-1 B cells. These cells are CD43-negative.[accessedResource: CL:0000822][accessDate: 05-04-2011] B-0 B cell B-2 B lymphocyte B-2 B lymphocyte[accessedResource: CL:0000822][accessDate: 05-04-2011] B-2 B-cell B-2 B-cell[accessedResource: CL:0000822][accessDate: 05-04-2011] B-2 B-lymphocyte B-2 B-lymphocyte[accessedResource: CL:0000822][accessDate: 05-04-2011] James Malone Tomasz Adamusiak follicular B cell http://www.ebi.ac.uk/efo/EFO_0000092 large pre-BII cell small pre-BII cell immature natural killer cell mature natural killer cell pro-NK cell pro-B cell pro-T cell thromboblast basophilic myeloblast basophilic promyelocyte mast cell progenitor eosinophilic myeloblast eosinophilic promyelocyte neutrophil progenitor cell myeloblast promyelocyte hematopoietic multipotent progenitor cell A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans. A hematopoietic multipotent progenitor cell is multipotent, but not capable of long-term self-renewal. These cells are characterized as lacking lineage cell surface markers and being CD34-positive in both mice and humans.[accessedResource: CL:0000837][accessDate: 05-04-2011] A progenitor cell of any hematopoietic lineage, potentially multipotent. Jie Zheng MPP MPP[accessedResource: CL:0000837][accessDate: 05-04-2011] Tomasz Adamusiak hematopoietic multipotent progenitor cell[accessedResource: CL:0000837][accessDate: 05-04-2011] hematopoietic progenitor cell hemopoietic progenitor cell hemopoietic progenitor cell[accessedResource: CL:0000837][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002532 lymphoid lineage restricted progenitor cell myeloid lineage restricted progenitor cell A progenitor cell of any myeloid lineage, potentially multipotent. A progenitor cell restricted to the myeloid lineage. A progenitor cell restricted to the myeloid lineage.[accessedResource: CL:0000839][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002441 myeloid lineage restricted progenitor cell[accessedResource: CL:0000839][accessDate: 05-04-2011] myeloid progenitor cell immature conventional dendritic cell mature conventional dendritic cell mononuclear cell A cell having only one nucleus, especially: MONOCYTE. A cell having only one nucleus, especially: MONOCYTE.[accessedResource: BTO:0000878][accessDate: 05-04-2011] A leukocyte with a single non-segmented nucleus in the mature form. A leukocyte with a single non-segmented nucleus in the mature form.[accessedResource: CL:0000842][accessDate: 05-04-2011] BTO:0000878 James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000594 peripheral blood mononuclear cell follicular B cell germinal center B cell marginal zone B cell classical monocyte elicited macrophage suppressor macrophage inflammatory macrophage tissue-resident macrophage gastrointestinal tract (lamina propria) macrophage thymic macrophage secondary lymphoid organ macrophage lymph node macrophage tonsillar macrophage Peyer's patch macrophage splenic macrophage splenic marginal zone macrophage splenic metallophillic macrophage splenic red pulp macrophage non-classical monocyte splenic white pulp macrophage splenic tingible body macrophage central nervous system macrophage meningeal macrophage choroid-plexus macrophage perivascular macrophage thymic medullary macrophage thymic cortical macrophage mucosa-associated lymphoid tissue macrophage gut-associated lymphoid tissue macrophage nasal and broncial associated lymphoid tissue macrophage lymph node subcapsular sinus macrophage lymph node tingible body macrophage myeloid suppressor cell alternatively activated macrophage thymocyte A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex. A type of lymphocyte whose defining characteristic is the expression of a T cell receptor complex.[accessedResource: CL:0000084][accessDate: 05-04-2011] An immature T cell located in the thymus. An immature T cell located in the thymus.[accessedResource: CL:0000893][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002449 immature T lymphocyte immature T-cell thymic lymphocyte thymic lymphocyte[accessedResource: CL:0000893][accessDate: 05-04-2011] DN1 thymic pro-T cell naive thymus-derived CD4-positive, alpha-beta T cell activated CD4-positive, alpha-beta T cell CD4-positive, alpha-beta memory T cell naive T cell T-helper 17 cell naive thymus-derived CD8-positive, alpha-beta T cell Tr1 cell induced T-regulatory cell natural T-regulatory cell central memory CD4-positive, alpha-beta T cell effector memory CD4-positive, alpha-beta T cell activated CD8-positive, alpha-beta T cell central memory CD8 positive, alpha-beta T cell CD8-positive, alpha-beta cytokine secreting effector T cell CD8-positive, alpha-beta memory T cell cytotoxic T cell effector T cell helper T cell effector memory CD8-positive, alpha-beta T cell immature NK T cell CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell dendritic epidermal T cell Tc1 cell Tc2 cell CD8-positive, CD25-positive, alpha-beta regulatory T cell CD8-positive, CD28-negative, alpha-beta regulatory T cell type I NK T cell type II NK T cell CD4-positive type I NK T cell CD4-negative, CD8-negative type I NK T cell activated CD4-positive type I NK T cell CD4-positive type I NK T cell secreting interferon-gamma CD4-positive type I NK T cell secreting interleukin-4 activated CD4-negative, CD8-negative type I NK T cell CD4-negative, CD8-negative type I NK T cell secreting interferon-gamma CD4-negative, CD8-negative type I NK T cell secreting interleukin-4 activated type II NK T cell type II NK T cell secreting interferon-gamma type II NK T cell secreting interleukin-4 CD4-positive, alpha-beta cytotoxic T cell CD4-negative, CD8-negative, alpha-beta intraepithelial T cell early lymphoid progenitor pre-natural killer cell CD56-bright cytokine secreting natural killer cell cytotoxic CD56-dim natural killer cell mucosal invariant T cell thymic conventional dendritic cell thymic plasmacytoid dendritic cell Be1 Cell Be2 cell lymphocyte of B lineage antibody secreting cell IgE plasma cell IgE memory B cell IgD plasmablast IgE plasmablast IgE short lived plasma cell preBCR-positive large pre-B-II cell preBCR-negative large pre-B-II cell small pre-B-II cell pre-B-II cell pre-B-I cell large pre-B-II cell T1 B cell T2 B cell T3 B cell Bm1 B cell Bm2 B cell Bm3-delta B cell Bm2' B cell Bm3 B cell Bm4 B cell Bm5 B cell Be cell regulatory B cell unswitched memory B cell IgM memory B cell class switched memory B cell IgA memory B cell long lived plasma cell short lived plasma cell IgA short lived plasma cell IgG short lived plasma cell IgM short lived plasma cell IgG memory B cell plasmablast double negative memory B cell IgG plasmablast IgM plasmablast IgA plasmablast IgG plasma cell IgM plasma cell IgA plasma cell hematopoietic cell A blood cell. A blood cell.[accessedResource: BTO:0000574][accessDate: 05-04-2011] A cell found predominately in the blood. A cell found predominately in the blood.[accessedResource: CL:0000081][accessDate: 05-04-2011] A cell of a hematopoietic lineage. A cell of a hematopoietic lineage.[accessedResource: CL:0000988][accessDate: 05-04-2011] BTO:0000574 Tomasz Adamusiak blood cell[accessedResource: CL:0000081][accessDate: 05-04-2011] haematopoietic cell haematopoietic cell[accessedResource: CL:0000988][accessDate: 05-04-2011] haemopoietic cell haemopoietic cell[accessedResource: CL:0000988][accessDate: 05-04-2011] hemopoietic cell hemopoietic cell[accessedResource: CL:0000988][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002436 CD11c-low plasmacytoid dendritic cell conventional dendritic cell CD11c-negative plasmacytoid dendritic cell immature CD11c-low plasmacytoid dendritic cell mature CD11c-low plasmacytoid dendritic cell immature CD11c-negative plasmacytoid dendritic cell CD34-positive, CD38-positive common myeloid progenitor OR CD34-positive, CD38-positive common lymphoid progenitor mature CD11c-negative plasmacytoid dendritic cell immature CD8_alpha-negative CD11b-positive dendritic cell CD8_alpha-negative CD11b-negative dendritic cell CD4-positive CD11b-positive dendritic cell CD8_alpha-positive CD11b-negative dendritic cell immature CD8_alpha-negative CD11b-negative dendritic cell mature CD8_alpha-negative CD11b-negative dendritic cell mature CD8_alpha-negative CD11b-positive dendritic cell immature CD8_alpha-positive CD11b-negative dendritic cell mature CD8_alpha-positive CD11b-negative dendritic cell dermal dendritic cell interstitial dendritic cell Kit and Sca1-positive hematopoietic stem cell immature dermal dendritic cell mature dermal dendritic cell immature interstitial dendritic cell CD7-negative lymphoid progenitor OR granulocyte monocyte progenitor mature interstitial dendritic cell CD1a-positive Langerhans cell CD8_alpha-low Langerhans cell immature CD1a-positive Langerhans cell mature CD1a-positive Langerhans cell immature CD8_alpha-low Langerhans cell CD115-positive monocyte OR common dendritic progenitor mature CD8_alpha-low Langerhans cell CD34-positive, CD38-positive common lymphoid progenitor CD115-positive monocyte Kit-positive, CD34-positive common myeloid progenitor CD34-positive, CD38-negative hematopoietic stem cell Kit-positive, Sca1-positive common lymphoid progenitor CD34-positive, CD38-positive common myeloid progenitor CD7-negative lymphoid progenitor cell CD7-positive lymphoid progenitor cell common dendritic progenitor CD117-positive common myeloid progenitor OR CD217-positive common lymphoid progenitor Kit-positive erythroid progenitor cell CD34-positive, CD38-positive granulocyte monocyte progenitor Kit-positive granulocyte monocyte progenitor CD34-positive, GlyA-negative erythroid progenitor cell CD34-negative, GlyA-negative proerythroblast CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell Kit-positive, CD34-negative megakaryocyte erythroid progenitor cell Kit-low, CD34-positive eosinophil progenitor cell CD34-positive, CD38-positive eosinophil progenitor cell macrophage dendritic cell progenitor pre-conventional dendritic cell Kit-positive macrophage dendritic cell progenitor Kit-low proerythroblast GlyA-positive basophillic erythroblast Kit-negative, Ly-76 high basophilic erythroblast Kit-negative, Ly-76 high polychromatophilic erythroblast CD71-low, GlyA-positive polychromatic erythroblast Kit-negative, Ly-76 high orthochromatophilic erythroblasts CD71-negative, GlyA-positive orthochromatic erythroblast Ly-76 high reticulocyte GlyA-positive reticulocytes GlyA-positive erythrocyte Ly-76 high positive erythrocyte CD34-positive, CD41-positive, CD42-positive megakaryocyte progenitor cell Kit-positive megakaryocyte progenitor cell CD34-positive, CD41-positive, CD42-negative megakaryocyte progenitor cell CD34-negative, CD41-positive, CD42-positive megakaryocyte cell CD9-positive, CD41-positive megakaryocyte cell basophil mast progenitor cell Fc-epsilon RIalpha-low mast cell progenitor Fc-epsilon RIalpha-high basophil progenitor cell hematopoietic lineage restricted progenitor cell hematopoietic oligopotent progenitor cell short term hematopoietic stem cell long term hematopoietic stem cell Slamf1-negative multipotent progenitor cell Slamf1-positive multipotent progenitor cell CD2-positive, CD5-positive, CD44-positive alpha-beta intraepithelial T cell T follicular helper cell immature NK T cell stage I immature NK T cell stage II immature NK T cell stage III immature NK T cell stage IV CD34-positive, CD38-negative multipotent progenitor cell Kit-positive, integrin beta7-high basophil mast progenitor cell Fraction A pre-pro B cell Early pro-B cell Fraction B precursor B cell late pro-B cell Fraction C precursor B cell Fraction C' precursor B cell CD38-high pre-BCR positive cell Fraction D precursor B cell CD22-positive, CD38-low small pre-B cell Fraction E immature B cell CD38-negative immature B cell Fraction F mature B cell CD14-positive, CD16-negative classical monocyte Gr1-low non-classical monocyte CD8alpha-positive thymic conventional dendritic cell melanophage T-helper 9 cell nongranular leukocyte nuocyte CD38-positive naive B cell CD38-negative naive B cell IgG-positive double negative memory B cell IgG-negative double negative memory B cell CD38-positive IgG memory B cell IgD-positive CD38-positive IgG memory B cell IgD-negative CD38-positive IgG memory B cell CD38-negative IgG memory B cell B220-positive CD38-positive naive B cell B220-low CD38-positive naive B cell CD38-negative unswitched memory B cell B220-positive CD38-negative unswitched memory B cell B220-low CD38-negative unswitched memory B cell CD38-positive unswitched memory B cell B220-positive CD38-positive unswitched memory B cell B220-low CD38-positive unswitched memory B cell IgG-negative class switched memory B cell CD38-negative IgG-negative class switched memory B cell CD38-positive IgG-negative class switched memory B cell CD24-positive CD38-negative IgG-negative class switched memory B cell CD24-negative CD38-negative IgG-negative class switched memory B cell B220-positive CD38-positive IgG-negative class switched memory B cell B220-low CD38-positive IgG-negative class switched memory B cell CD27-positive gamma-delta T cell CD27-negative gamma-delta T cell CD25-positive, CD27-positive immature gamma-delta T cell innate effector T cell Tc17 cell capillary endothelial cell 2010-08-24T10:15:00Z An endothelial cell found in capillaries. BTO:0004956 CALOHA:TS-0112 FMA:67756 cell tmeehan epitheloid cell late promyelocyte early promyelocyte echinocyte granulocytopoietic cell metamyelocyte myelocyte A cell derived from a promyelocyte. It differentiates into a metamyelocyte. It has a diameter of 10-18 micrometer, and an oval or round nucleus with finely granulated chromatin. A cell derived from a promyelocyte. It differentiates into a metamyelocyte. It has a diameter of 10-18 micrometer, and an oval or round nucleus with finely granulated chromatin.[accessedResource: NCIt:C13115][accessDate: 05-04-2011] A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses. A cell type that is the first of the maturation stages of the granulocytic leukocytes normally found in the bone marrow. Granules are seen in the cytoplasm. The nuclear material of the myelocyte is denser than that of the myeloblast but lacks a definable membrane. The cell is flat and contains increasing numbers of granules as maturation progresses.[accessedResource: CL:0002193][accessDate: 05-04-2011] Jie Zheng NCIt:C13115 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002535 monopoietic cell immature dendritic epithelial T cell precursor epithelial cell of prostate cell An epithelial cell of the prostate. prostate epithelial cell GOC:tfm FMA:256163 FMA:66817 peripheral blood stem cell pleural macrophage epithelial cell of large intestine 2010-09-08T09:28:22Z An epithelial cell of the large intestine. BTO:0004297 CL:1000292 FMA:256157 cell epithelial cell of colon tmeehan periperhal blood mesothelial cell embryonic cell A cell of the embryo. A cell of the embryo.[accessedResource: CL:0002321][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002964 embryonic stem cell BTO:0001086 ES cell James Malone Tomasz Adamusiak Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals. Totipotent cell cultured from early embryo. Have the advantage that following modification in vitrothey can be used to produce chimeric embryos and thus transgenic animals.[accessedResource: BTO:0001086][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0000462 mammary epithelial cell cell breast epithelial cell An epithelial cell of the mammary gland. GOC:tfm PMID:19022771 preadipocyte A precursor to an adipocyte. A precursor to an adipocyte.[accessedResource: BTO:0001107][accessDate: 05-04-2011] An undifferentiated fibroblast that can be stimulated to form a fat cell. An undifferentiated fibroblast that can be stimulated to form a fat cell.[accessedResource: CL:0002334][accessDate: 05-04-2011] BTO:0001107 James Malone Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002002 CD56-positive, CD161-positive immature natural killer cell circulating endothelial cell cell A circulating endothelial cell of the phenotype CD146-positive, CD105-positive, CD45-negative. This cell type is indicative of recent vascular damage. PMID:19022771 decidual natural killer cell CD56-negative, CD161-positive immature natural killer cell CD27-low, CD11b-low immature natural killer cell Dx5-negative, NK1.1-positive immature natural killer cell CD27-high, CD11b-high natural killer cell CD27-low, CD11b-high natural killer cell CD27-high, CD11b-low natural killer cell progenitor cell of endocrine pancreas A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1.[accessedResource: CL:0002351][accessDate: 05-04-2011] A multi-fate stem cell that is able to differentiate into the pancreas alpha, beta and delta endocrine cells. This cell type expresses neurogenin-3 and Isl-1. Jie Zheng Tomasz Adamusiak http://en.wikipedia.org/wiki/Pancreas http://www.ebi.ac.uk/efo/EFO_0002536 pancreatic endocrine progenitor pancreatic endocrine progenitor[accessedResource: CL:0002351][accessDate: 05-04-2011] pancreatic islet progenitor cell pancreatic islet progenitor cell[accessedResource: CL:0002351][accessDate: 05-04-2011] gestational hematopoietic stem cell fetal liver hematopoietic progenitor cell A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative. A hematopoietic stem cell that resides in the fetal liver. In mice, this cell type is first observed at E10.5. This cell type is MHC-positive, HSA-positive, AA4.1-positive, CD45-positive, Sca-1 positive, CD150-positive, CD48-negative and CD244-negative.[accessedResource: CL:0002353][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002533 similar to CL:0000837, but in fetal liver yolk sac hematopoietic stem cell primitive red blood cell primitive reticulocyte fetal derived definitive erythrocyte pyrenocyte placental hematopoietic stem cell AGM hematopoietic stem cell primitive erythroid progenitor keratocyte A keratocyte is a specialized fibroblast residing in the stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate. A keratocyte is a specialized fibroblast residing in the stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate. A keratocyte is a specialized fibroblast residing in the stroma that has a flattened, dendritic cell located between the lamellae with a large flattened nucleus and lengthy processes which communicate with neighboring cells. This corneal layer, representing about 85-90% of corneal thickness, is built up from highly regular collagenous lamellae and extracellular matrix components. Keratocytes play the major role in keeping it transparent, healing its wounds, and synthesizing its components. This cell type secretes collagen I, V, VI, and keratin sulfate.[accessedResource: CL:0002363][accessDate: 05-04-2011] Ele Holloway James Malone Tomasz Adamusiak corneal fibroblast corneal fibroblast[accessedResource: CL:0002363][accessDate: 05-04-2011] corneal keratocyte corneal keratocyte[accessedResource: CL:0002363][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002479 medullary thymic epithelial cell An epithelial cell located in the inner portion of the thymus where the T lymphocytes become mature and are released into the circulation. An epithelial cell located in the inner portion of the thymus where the T lymphocytes become mature and are released into the circulation.[accessedResource: NCIt:C45702][accessDate: 05-04-2011] An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output. An epithelial cell of the medullary thymus. This cell type expresses a diverse range of tissue-specific antigens. This promiscuous gene expression is a cell-autonomous property of medullary epithelial cells and is maintained during the entire period of thymic T cell output.[accessedResource: CL:0002365][accessDate: 05-04-2011] James Malone NCIt:C45702 Thymic Medullary Epithelial Cell Thymic Medullary Epithelial Cell[accessedResource: NCIt:C45702][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000581 mTEC mTEC[accessedResource: CL:0002365][accessDate: 05-04-2011] airway epithelial cell An endo-epithelial cell of the respiratory tract. An endo-epithelial cell of the respiratory tract.[accessedResource: CL:0002368][accessDate: 05-04-2011] BTO:0000419 Epithelium of the respiratory portion of the bronchial tree. Epithelium of the respiratory portion of the bronchial tree.[accessedResource: BTO:0000419][accessDate: 05-04-2011] Tomasz Adamusiak airway epithelium http://www.ebi.ac.uk/efo/EFO_0003031 respiratory epithelial cell respiratory epithelial cell[accessedResource: CL:0002368][accessDate: 05-04-2011] respiratory epithelium respiratory epithelium[accessedResource: BTO:0000419][accessDate: 05-04-2011] somatic cell A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell). A cell of an organism that does not pass on its genetic material to the organism's offspring (i.e. a non-germ line cell).[accessedResource: CL:0002371][accessDate: 05-04-2011] BTO:0001268 James Malone NCIt:C12949 One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells. One of the cells of the body that compose the tissues, organs, and parts of that individual other than the germ cells.[accessedResource: BTO:0001268][accessDate: 05-04-2011] Somatic Cells Somatic Cells[accessedResource: NCIt:C12949][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0000704 immature Vgamma2-positive fetal thymocyte intermediate monocyte CD141-positive myeloid dendritic cell Gr1-high classical monocyte CD14-low, CD16-positive monocyte CD14-positive, CD16-positive monocyte Gr1-positive, CD43-positive monocyte CD1c-positive myeloid dendritic cell Fraction B/C precursor B cell mature dendritic epithelial T cell precursor Peyer's patch B cell mature Vgamma2-positive fetal thymocyte fetal thymocyte gamma-delta thymocyte immature Vgamma2-positive thymocyte mature Vgamma2-positive thymocyte immature Vgamma2-negative thymocyte mature Vgamma2-negative thymocyte Vgamma1.1-positive, Vdelta6.3-negative thymocyte Vgamma1.1-positive, Vdelta6.3-positive thymocyte mature Vgamma1.1-positive, Vdelta6.3-negative thymocyte immature Vgamma1.1-positive, Vdelta6.3-negative thymocyte immature Vgamma1.1-positive, Vdelta6.3-positive thymocyte mature Vgamma1.1-positive, Vdelta6.3-positive thymocyte primitive erythroid lineage cell mature T cell immature T cell nucleated reticulocyte enucleated reticulocyte DN2a thymocyte DN2b thymocyte early T lineage precursor CD11b-positive, CD27-positive natural killer cell resting double-positive thymocyte double-positive blast CD69-positive double-positive thymocyte CD4-intermediate, CD8-positive double-positive thymocyte CD4-positive, CD8-intermediate double-positive thymocyte CD24-positive, CD4 single-positive thymocyte CD69-positive, CD4-positive single-positive thymocyte CD24-positive, CD8 single-positive thymocyte CD69-positive, CD8-positive single-positive thymocyte mature CD4 single-positive thymocyte mature CD8 single-positive thymocyte NK1.1-positive natural killer cell NKGA2-positive natural killer cell Ly49D-positive natural killer cell CD94-positive natural killer cell CD94-negative, Ly49CI-negative natural killer cell Ly49CI-positive natural killer cell Ly49H-positive natural killer cell Ly49D-negative natural killer cell Ly49CI-negative natural killer cell CD94-negative natural killer cell Ly49H-negative natural killer cell CD94-positive Ly49CI-positive natural killer cell Cd4-negative, CD8_alpha-negative, CD11b-positive dendritic cell CD8_alpha-negative plasmactyoid dendritic cell CD8_alpha-positive plasmactyoid dendritic cell epidermal Langerhans cell langerin-positive dermal dendritic cell langerin-negative dermal dendritic cell CD8alpha-negative thymic conventional dendritic cell CD103-positive dendritic cell adipose dendritic cell SIRPa-positive adipose dendritic cell SIRPa-negative adipose dendritic cell CD11b-positive dendritic cell small intestine serosal dendritic cell Gr1-high myeloid suppressor cell Gr1-low myeloid suppressor cell MHC-II-negative classical monocyte MHC-II-positive classical monocyte MHC-II-negative non-classical monocyte MHC-II-low non-classical monocyte MHC-II-high non-classical monocyte lymphoid MHC-II-negative classical monocyte lymphoid MHC-II-negative non-classical monocyte bone marrow macrophage adipose macrophage F4/80-negative adipose macrophage F4/80-positive adipose macrophage double negative thymocyte intraepithelial lymphocyte liver CD103-negative dendritic cell liver CD103-positive dendritic cell langerin-positive lymph node dendritic cell langerin-negative, CD103-negative lymph node dendritic cell CD103-positive, langerin-positive lymph node dendritic cell CD103-negative, langerin-positive lymph node dendritic cell CD11b-low, CD103-negative, langerin-negative lymph node dendritic cell CD11b-high, CD103-negative, langerin-negative lymph node dendritic cell Vgamma5-positive CD8alpha alpha positive gamma-delta intraepithelial T cell Vgamma5-negative CD8alpha alpha positive gamma-delta intraepithelial T cell CD14-positive dermal dendritic cell immature CD14-positive dermal dendritic cell mature CD14-positive dermal dendritic cell CD1a-positive dermal dendritic cell immature CD1a-positive dermal dendritic cell mature CD1a-positive dermal dendritic cell CD16-positive myeloid dendritic cell immature CD16-positive myeloid dendritic cell mature CD16-positive myeloid dendritic cell lung fibroblast NHLF A fibroblast that is part of lung http://purl.obolibrary.org/obo/CL_0002553 fibroblast of lung uterine smooth muscle cell 2011-03-06T05:53:28Z A smooth muscle cell of the uterus. cell tmeehan kidney cell KUPO:0001010 cell trypanosomiasis A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. plant treatment A plant environment involving the application of an abiotic or biotic treatment. sodium chloride regimen Treatment involving the use of sodium chloride salt as supplement to liquid and soil growth media to study various types of responses on its application. growth chamber study The treatment involving study type in which plants were grown in growth chambers. reproductive process A process in which an organism or part of an organism participates towards the generation of offspring. James Malone http://www.ebi.ac.uk/efo/EFO_0002949 microtubule cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. microtubule cytoskeleton organization and biogenesis GO:0000226 biological_process microtubule cytoskeleton organisation microtubule dynamics mitotic cell cycle cell activation A change in the morphology or behavior of a cell resulting from exposure to an activating factor such as a cellular or soluble ligand. GO:0001775 biological_process molecular function Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions. cellular component Note that, in addition to forming the root of the cellular component ontology, this term is recommended for use for the annotation of gene products whose cellular component is unknown. Note that when this term is used for annotation, it indicates that no information was available about the cellular component of the gene product annotated as of the date the annotation was made; the evidence code ND, no data, is used to indicate this. The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together. GO:0005575 GO:0008372 NIF_Subcellular:sao1337158144 cellular component cellular component unknown cellular_component cellular_component The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together. intracellular cell nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. GO:0005634 NIF_Subcellular:sao1702920020 Wikipedia:Cell_nucleus cell nucleus cellular_component nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. GO:0005730 NIF_Subcellular:sao1820400233 Wikipedia:Nucleolus cellular_component cytoplasm All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. GO:0005737 Wikipedia:Cytoplasm cellular_component mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. GO:0005739 NIF_Subcellular:sao1860313010 Wikipedia:Mitochondrion cellular_component mitochondria mitochondrial envelope mitochondrial intermembrane space The region between the inner and outer lipid bilayers of the mitochondrial envelope. GO:0005758 GO:0031971 NIF_Subcellular:sao118944228 cellular_component mitochondrial envelope lumen mitochondrial membrane lumen lysosome A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. GO:0005764 NIF_Subcellular:sao585356902 Wikipedia:Lysosome cellular_component vacuole A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. GO:0005773 Wikipedia:Vacuole cellular_component vacuolar carboxypeptidase Y endoplasmic reticulum The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). ER GO:0005783 NIF_Subcellular:sao1036339110 Wikipedia:Endoplasmic_reticulum cellular_component smooth endoplasmic reticulum The smooth endoplasmic reticulum (smooth ER or SER) has no ribosomes attached to it. The smooth ER is the recipient of the proteins synthesized in the rough ER. Those proteins to be exported are passed to the Golgi complex, the resident proteins are returned to the rough ER and the lysosomal proteins after phosphorylation of their mannose residues are passed to the lysosomes. Glycosylation of the glycoproteins also continues. The smooth ER is the site of synthesis of lipids, including the phospholipids. The membranes of the smooth ER also contain enzymes that catalyze a series of reactions to detoxify both lipid-soluble drugs and harmful products of metabolism. Large quantities of certain compounds such as phenobarbital cause an increase in the amount of the smooth ER. Wikipedia:Endoplasmic_reticulum#Smooth_endoplasmic_reticulum GO:0005790 NIF_Subcellular:sao710427438 SER cellular_component smooth ER rough endoplasmic reticulum The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. Wikipedia:Endoplasmic_reticulum#Rough_endoplasmic_reticulum GO:0005791 NIF_Subcellular:sao1881364067 RER cellular_component rough ER Golgi apparatus A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. Note that the Golgi apparatus can be located in various places in the cytoplasm. In plants and lower animal cells, the Golgi apparatus exists as many copies of discrete stacks dispersed throughout the cytoplasm, while the Golgi apparatus of interphase mammalian cells is a juxtanuclear, often pericentriolar reticulum, where the discrete Golgi stacks are stitched together to form a compact and interconnected ribbon, sometimes called the Golgi ribbon. GO:0005794 Golgi Golgi complex Golgi ribbon NIF_Subcellular:sao451912436 Wikipedia:Golgi_apparatus cellular_component cis-Golgi network The CGN is not considered part of the Golgi apparatus but is a separate organelle. The network of interconnected tubular and cisternal structures located at the convex side of the Golgi apparatus, which abuts the endoplasmic reticulum. GO:0005801 Golgi cis face Golgi cis-face cellular_component cis Golgi network forming face spindle The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. GO:0005819 Wikipedia:Spindle_apparatus cellular_component cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. GO:0005829 NIF_Subcellular:sao101633890 Wikipedia:Cytosol cellular_component cytoskeleton Any of the various filamentous elements that form the internal framework of cells, and typically remain after treatment of the cells with mild detergent to remove membrane constituents and soluble components of the cytoplasm. The term embraces intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. GO:0005856 Wikipedia:Cytoskeleton cellular_component plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. GO:0005886 GO:0005904 NIF_Subcellular:sao1663586795 Wikipedia:Cell_membrane bacterial inner membrane cell membrane cellular_component cytoplasmic membrane inner endospore membrane juxtamembrane plasma membrane lipid bilayer plasmalemma carbohydrate metabolic process The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. GO:0005975 Reactome:REACT_102834 Reactome:REACT_103806 Reactome:REACT_104502 Reactome:REACT_105321 Reactome:REACT_106046 Reactome:REACT_107409 Reactome:REACT_115733 Reactome:REACT_28218 Reactome:REACT_32291 Reactome:REACT_33141 Reactome:REACT_33953 Reactome:REACT_34800 Reactome:REACT_474 Reactome:REACT_77669 Reactome:REACT_81945 Reactome:REACT_83038 Reactome:REACT_83329 Reactome:REACT_88330 Reactome:REACT_88558 Reactome:REACT_90099 Reactome:REACT_96375 Reactome:REACT_98394 Wikipedia:Carbohydrate_metabolism biological_process carbohydrate metabolism nucleobase-containing compound metabolic process Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism nucleobase, nucleoside and nucleotide metabolic process nucleobase, nucleoside, nucleotide and nucleic acid metabolic process nucleobase, nucleoside, nucleotide and nucleic acid metabolism GO:0006139 GO:0055134 biological_process purine nucleotide metabolic process The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. GO:0006163 biological_process purine metabolic process purine metabolism purine nucleotide metabolism purine nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. GO:0006164 MetaCyc:DENOVOPURINE2-PWY biological_process purine nucleotide anabolism purine nucleotide biosynthesis purine nucleotide formation purine nucleotide synthesis DNA methylation The covalent transfer of a methyl group to either N-6 of adenine or C-5 or N-4 of cytosine true cellular protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). GO:0006464 biological_process process resulting in protein modification protein modification process protein tagging activity protein glycosylation A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. GO:0006486 biological_process protein amino acid glycosylation protein N-linked glycosylation A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. GO:0006487 N-glycan biosynthesis N-glycan metabolism RESID:AA0151 RESID:AA0156 RESID:AA0327 biological_process protein amino acid N-linked glycosylation cellular aromatic compound metabolic process The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. GO:0006725 aromatic compound metabolism aromatic hydrocarbon metabolic process aromatic hydrocarbon metabolism biological_process nucleoside phosphate metabolic process The chemical reactions and pathways involving any phosphorylated nucleoside. GO:0006753 biological_process nucleoside phosphate metabolism ATP biosynthetic process The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. ATP anabolism ATP biosynthesis ATP formation ATP regeneration ATP synthesis GO:0006754 GO:0006758 GO:0006759 Reactome:REACT_102219 Reactome:REACT_104315 Reactome:REACT_105384 Reactome:REACT_106830 Reactome:REACT_109466 Reactome:REACT_190 Reactome:REACT_28537 Reactome:REACT_31626 Reactome:REACT_33014 Reactome:REACT_78557 Reactome:REACT_86305 Reactome:REACT_88682 Reactome:REACT_90150 Reactome:REACT_92655 Reactome:REACT_96844 Reactome:REACT_991 biological_process phosphorus metabolic process The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). GO:0006793 biological_process phosphorus metabolism phosphate-containing compound metabolic process The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. GO:0006796 biological_process phosphate metabolic process phosphate metabolism nitrogen compound metabolic process Note that amino acid and derivative metabolism should not be annotated here. Instead use the 'amino acid and derivative metabolism' node. The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen, including (but not limited to) nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium. GO:0006807 biological_process nitrogen compound metabolism transport apoptotic process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathways) which typically lead to rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. The process ends when the cell has died. The process is divided into a signaling pathway phase, and an execution phase, which is triggered by the former. GO:0006915 GO:0008632 Reactome:REACT_100045 Reactome:REACT_100962 Reactome:REACT_101249 Reactome:REACT_104187 Reactome:REACT_105149 Reactome:REACT_106405 Reactome:REACT_106672 Reactome:REACT_107264 Reactome:REACT_108651 Reactome:REACT_109165 Reactome:REACT_110081 Reactome:REACT_111964 Reactome:REACT_13526 Reactome:REACT_13638 Reactome:REACT_13643 Reactome:REACT_28087 Reactome:REACT_28795 Reactome:REACT_28816 Reactome:REACT_30266 Reactome:REACT_30361 Reactome:REACT_30371 Reactome:REACT_30548 Reactome:REACT_30763 Reactome:REACT_31349 Reactome:REACT_34139 Reactome:REACT_578 Reactome:REACT_77132 Reactome:REACT_77313 Reactome:REACT_77415 Reactome:REACT_78287 Reactome:REACT_78802 Reactome:REACT_79809 Reactome:REACT_82724 Reactome:REACT_83328 Reactome:REACT_85877 Reactome:REACT_86749 Reactome:REACT_86873 Reactome:REACT_87570 Reactome:REACT_88740 Reactome:REACT_88784 Reactome:REACT_89196 Reactome:REACT_90267 Reactome:REACT_91011 Reactome:REACT_91243 Reactome:REACT_93937 Reactome:REACT_94099 Reactome:REACT_95069 Reactome:REACT_95675 Reactome:REACT_97627 Reactome:REACT_99784 Reactome:REACT_99799 Wikipedia:Apoptosis apoptosis apoptotic cell death apoptotic program apoptotic programmed cell death biological_process cell suicide cellular suicide programmed cell death by apoptosis signaling (initiator) caspase activity type I programmed cell death response to stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0006950 biological_process response to abiotic stress response to biotic stress inflammatory response replaces previous MeSH derived class, inflammation. inflammation true The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. Helen Parkinson response to osmotic stress Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell. GO:0006970 biological_process osmotic response osmotic stress response organelle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. GO:0006996 biological_process organelle organisation organelle organization and biogenesis cell cycle spindle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the spindle, the array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during DNA segregation and serves to move the duplicated chromosomes apart. GO:0007051 biological_process spindle organisation spindle organization and biogenesis mitotic spindle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle. GO:0007052 biological_process mitotic spindle organisation mitotic spindle organization and biogenesis spindle organization and biogenesis during mitosis cell communication signal transduction Note that signal transduction is defined broadly to include a ligand interacting with a receptor, downstream signaling steps and a response being triggered. A change in form of the signal in every step is not necessary. Note that in many cases the end of this process is regulation of the initiation of transcription. Note that specific transcription factors may be annotated to this term, but core/general transcription machinery such as RNA polymerase should not. The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. GO:0007165 GO:0023033 Reactome:REACT_100624 Reactome:REACT_102354 Reactome:REACT_112130 Reactome:REACT_112549 Reactome:REACT_113151 Reactome:REACT_113601 Reactome:REACT_113964 Reactome:REACT_114657 Reactome:REACT_114690 Reactome:REACT_114820 Reactome:REACT_114910 Reactome:REACT_115037 Reactome:REACT_115147 Reactome:REACT_12478 Reactome:REACT_31232 Reactome:REACT_78535 Reactome:REACT_89740 Reactome:REACT_93680 Reactome:REACT_98872 Wikipedia:Signal_transduction biological_process signaling cascade signaling pathway signalling cascade signalling pathway central nervous system development brain development The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). GO:0007420 biological_process aging AGING BIOL AGING BIOL[accessedResource: MSH:D000375][accessDate: 05-04-2011] Aging, Biological Aging, Biological[accessedResource: MSH:D000375][accessDate: 05-04-2011] BIOL AGING BIOL AGING[accessedResource: MSH:D000375][accessDate: 05-04-2011] Biological Aging Biological Aging[accessedResource: MSH:D000375][accessDate: 05-04-2011] MSH:D000375 OMIM:502000 Senescence Senescence[accessedResource: MSH:D000375][accessDate: 05-04-2011] The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time. The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.[accessedResource: MSH:D000375][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003904 true blood coagulation sensory perception sensation true The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. GO:0007600 Helen Parkinson sensory perception of smell true A neurological process comprising the series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. Helen Parkinson behavior Acceptance Process Acceptance Process[accessedResource: MSH:D001519][accessDate: 05-04-2011] Acceptance Processes Acceptance Processes[accessedResource: MSH:D001519][accessDate: 05-04-2011] Behaviors Behaviors[accessedResource: MSH:D001519][accessDate: 05-04-2011] Fixed action pattern courtship behaviour in Drosophila. Forager behaviour in honey bees. I am trying to determine the difference between a process and a behaviour. Is behaviour dancing any different from the process dancing? James Malone MSH:D001519 Process, Acceptance Process, Acceptance[accessedResource: MSH:D001519][accessDate: 05-04-2011] Processes, Acceptance Processes, Acceptance[accessedResource: MSH:D001519][accessDate: 05-04-2011] The actions or reactions of an object or organism, usually in relation to the environment or surrounding world of stimuli. E.g. Fixed action pattern courtship behaviour in Drosophila. Forager behaviour in honey bees. The observable response a person makes to any situation. The observable response a person makes to any situation.[accessedResource: MSH:D001519][accessDate: 05-04-2011] Tomasz Adamusiak behaviour http://www.ebi.ac.uk/efo/EFO_0000282 true GO:0007610 protein localization biological process Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end. GO:0000004 GO:0007582 GO:0008150 MSH:D055705 Note that, in addition to forming the root of the biological process ontology, this term is recommended for use for the annotation of gene products whose biological process is unknown. Note that when this term is used for annotation, it indicates that no information was available about the biological process of the gene product annotated as of the date the annotation was made; the evidence code ND, no data, is used to indicate this. Wikipedia:Biological_process biological process biological process unknown biological_process biological_process physiological process true GO:0008150 The activities of living organisms that support life in single- or multi-cellular organisms from their origin through the progression of life. physiological process metabolic process Note that metabolic processes do not include single functions or processes such as protein-protein interactions, protein-nucleic acids, nor receptor-ligand interactions. The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. Dani Welter GO:0008152 GO:0008152 The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. Wikipedia:Metabolism biological_process metabolic process resulting in cell growth metabolism metabolism metabolism resulting in cell growth true cell death Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as "apoptotic bodies"); and/or (3) its corpse (or its fragments) have been engulfed by an adjacent cell in vivo. GO:0008219 accidental cell death biological_process necrosis biosynthetic process The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. GO:0009058 Wikipedia:Anabolism anabolism biological_process biosynthesis formation synthesis glycoprotein biosynthetic process nucleoside metabolic process The chemical reactions and pathways involving a nucleoside, a nucleobase linked to either beta-D-ribofuranose (a ribonucleoside) or 2-deoxy-beta-D-ribofuranose, (a deoxyribonucleoside), e.g. adenosine, guanosine, inosine, cytidine, uridine and deoxyadenosine, deoxyguanosine, deoxycytidine and thymidine (= deoxythymidine). GO:0009116 biological_process nucleoside metabolism nucleotide metabolic process The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). GO:0009117 biological_process nucleotide metabolism ribonucleoside metabolic process The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine or pyrimidine base is linked to a ribose (beta-D-ribofuranose) molecule. GO:0009119 biological_process ribonucleoside metabolism nucleoside monophosphate metabolic process The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. GO:0009123 biological_process nucleoside monophosphate metabolism nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. GO:0009124 biological_process nucleoside monophosphate anabolism nucleoside monophosphate biosynthesis nucleoside monophosphate formation nucleoside monophosphate synthesis purine nucleoside monophosphate metabolic process The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. GO:0009126 biological_process purine nucleoside monophosphate metabolism purine nucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. GO:0009127 biological_process purine nucleoside monophosphate anabolism purine nucleoside monophosphate biosynthesis purine nucleoside monophosphate formation purine nucleoside monophosphate synthesis nucleoside triphosphate metabolic process The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. GO:0009141 biological_process nucleoside triphosphate metabolism nucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. GO:0009142 biological_process nucleoside triphosphate anabolism nucleoside triphosphate biosynthesis nucleoside triphosphate formation nucleoside triphosphate synthesis purine nucleoside triphosphate metabolic process The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. GO:0009144 biological_process purine nucleoside triphosphate metabolism purine nucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. GO:0009145 biological_process purine nucleoside triphosphate anabolism purine nucleoside triphosphate biosynthesis purine nucleoside triphosphate formation purine nucleoside triphosphate synthesis purine ribonucleotide metabolic process The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. GO:0009150 biological_process purine ribonucleotide metabolism purine ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. GO:0009152 biological_process purine ribonucleotide anabolism purine ribonucleotide biosynthesis purine ribonucleotide formation purine ribonucleotide synthesis ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. GO:0009156 biological_process ribonucleoside monophosphate anabolism ribonucleoside monophosphate biosynthesis ribonucleoside monophosphate formation ribonucleoside monophosphate synthesis ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. GO:0009161 biological_process ribonucleoside monophosphate metabolism nucleoside biosynthetic process The chemical reactions and pathways resulting in the formation of any one of a family of organic molecules consisting of a purine or pyrimidine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside). GO:0009163 biological_process nucleoside anabolism nucleoside biosynthesis nucleoside formation nucleoside synthesis nucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). GO:0009165 biological_process nucleotide anabolism nucleotide biosynthesis nucleotide formation nucleotide synthesis purine ribonucleoside monophosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. GO:0009167 biological_process purine ribonucleoside monophosphate metabolism purine ribonucleoside monophosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. GO:0009168 Reactome:REACT_103616 Reactome:REACT_105374 Reactome:REACT_106062 Reactome:REACT_106423 Reactome:REACT_107566 Reactome:REACT_108408 Reactome:REACT_1776 Reactome:REACT_28359 Reactome:REACT_30059 Reactome:REACT_30811 Reactome:REACT_32997 Reactome:REACT_33659 Reactome:REACT_79911 Reactome:REACT_80409 Reactome:REACT_83164 Reactome:REACT_84816 Reactome:REACT_87285 Reactome:REACT_92581 Reactome:REACT_92811 Reactome:REACT_93080 Reactome:REACT_96162 biological_process purine ribonucleoside monophosphate anabolism purine ribonucleoside monophosphate biosynthesis purine ribonucleoside monophosphate formation purine ribonucleoside monophosphate synthesis ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. GO:0009199 biological_process ribonucleoside triphosphate metabolism ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. GO:0009201 biological_process ribonucleoside triphosphate anabolism ribonucleoside triphosphate biosynthesis ribonucleoside triphosphate formation ribonucleoside triphosphate synthesis purine ribonucleoside triphosphate metabolic process The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. GO:0009205 biological_process purine ribonucleoside triphosphate metabolism purine ribonucleoside triphosphate biosynthetic process The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. GO:0009206 biological_process purine ribonucleoside triphosphate anabolism purine ribonucleoside triphosphate biosynthesis purine ribonucleoside triphosphate formation purine ribonucleoside triphosphate synthesis ribonucleotide metabolic process The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. GO:0009121 GO:0009259 biological_process ribonucleotide metabolism ribonucleotide biosynthetic process The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. GO:0009260 biological_process ribonucleotide anabolism ribonucleotide biosynthesis ribonucleotide formation ribonucleotide synthesis fungal-type cell wall A rigid yet dynamic structure surrounding the plasma membrane that affords protection from stresses and contributes to cell morphogenesis, consisting of extensively cross-linked glycoproteins and carbohydrates. The glycoproteins may be modified with N- or O-linked carbohydrates, or glycosylphosphatidylinositol (GPI) anchors; the polysaccharides are primarily branched glucans, including beta-linked and alpha-linked glucans, and may also include chitin and other carbohydrate polymers, but not cellulose or pectin. Enzymes involved in cell wall biosynthesis are also found in the cell wall. Note that some forms of fungi develop a capsule outside of the cell wall under certain circumstances; this is considered a separate structure. GO:0009277 beta-glucan-containing cell wall cellular_component chitin- and beta-glucan-containing cell wall chitin-containing cell wall cell outer membrane A lipid bilayer that forms the outermost layer of the cell envelope; enriched in polysaccharide and protein; the outer leaflet of the membrane contains specific lipopolysaccharide structures. GO:0009279 cellular_component outer membrane of cell protein secretion protein secretion resulting in cell fate commitment GO:0009306 GO:0045166 GO:0045731 The controlled release of proteins from a cell. biological_process glycoprotein secretion protein secretion during cell fate commitment response to radiation true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an electromagnetic radiation stimulus. GO:0009314 response to cold Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism. GO:0009409 biological_process freezing tolerance response to water deprivation Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a water deprivation stimulus, prolonged deprivation of water. GO:0009414 biological_process drought tolerance response to dehydration response to drought response to thirst response to water stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of water. GO:0009415 biological_process chloroplast A chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma. GO:0009507 Wikipedia:Chloroplast cellular_component plastid envelope plastid Any member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid. GO:0009536 Wikipedia:Plastid cellular_component proplastid GO:0009537 The precursor of other plastids. cellular_component response to wounding Replaced previous EFO class "damage response" (child of "measurement") damage response true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. Dani Welter response to virus true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. response to abiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0009628 biological_process response to abiotic stress chloroplast envelope cellular process Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. GO:0008151 GO:0009987 GO:0050875 biological_process cell growth and/or maintenance cell physiology cellular physiological process response to lithium ion true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus. Lithium salts are used as mood stabilizing drugs. regulation of gene expression GO curators Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Some protein processing events may be included when they are required to form an active form of a product from an inactive precursor form. endomembrane system vesicle membrane The lipid bilayer surrounding any membrane-bounded vesicle in the cell. GO:0012506 NIF_Subcellular:sao1153182838 cellular_component ER to Golgi transport vesicle membrane ER to Golgi constitutive secretory pathway transport vesicle membrane The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi. endoplasmic reticulum to Golgi transport vesicle membrane endoplasmic reticulum-Golgi transport vesicle membrane COPII coated vesicle membrane ER-Golgi transport vesicle membrane GO:0012507 GO:0030664 cellular_component monolayer-surrounded lipid storage body A subcellular organelle of plant cells surrounded by 'half-unit' or a monolayer membrane instead of the more usual bilayer. The storage body has a droplet of triglyceride surrounded by a monolayer of phospholipids, interacting with the triglycerides and the hydrophilic head groups facing the cytosol, and containing major protein components called oleosins. GO:0009520 GO:0012511 Wikipedia:Oil_body cellular_component oil body oilbody oleosome spherosome postsynaptic density The postsynaptic density is a region that lies adjacent to the cytoplasmic face of the postsynaptic membrane at excitatory synapse. It forms a disc that consists of a range of proteins with different functions, some of which contact the cytoplasmic domains of ion channels in the postsynaptic membrane. The proteins making up the disc include receptors, and structural proteins linked to the actin cytoskeleton. They also include signalling machinery, such as protein kinases and phosphatases. The postsynaptic density may be part of a neuron or a muscle cell or a glial cell. GO:0014069 NIF_Subcellular:sao1196688972 Wikipedia:Postsynaptic_density cellular_component post synaptic density post-synaptic density response to opiate Note the synym is non exact response to isoquinoline alkaloid true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an isoquinoline alkaloid stimulus. An isoquinoline alkaloid is any member of a group of compounds with the heterocyclic ring structure of benzo(c)pyridine which is a structure characteristic of the group of opium alkaloids. protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. GO:0015031 GO:0015831 biological_process enzyme transport microtubule cytoskeleton membrane Double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. GO:0016020 Wikipedia:Biological_membrane cellular_component cytoplasmic membrane-bounded vesicle cellular component organization RNA interference The process in which double-stranded RNAs silence cognate genes. Involves posttranscriptional gene inactivation ('silencing') both of transgenes or dsRNA introduced into a germline, and of the host gene(s) homologous to the transgenes or dsRNA. This silencing is triggered by the introduction of transgenes or double-stranded RNA (dsRNA), and can occur through a specific decrease in the level of mRNA, or by negative regulation of translation, of both host genes and transgenes. GO curators RNAi heterocycle biosynthetic process The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). GO:0018130 biological_process heterocycle anabolism heterocycle biosynthesis heterocycle formation heterocycle synthesis aromatic compound biosynthetic process The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. GO:0019438 aromatic compound anabolism aromatic compound biosynthesis aromatic compound formation aromatic compound synthesis aromatic hydrocarbon biosynthesis aromatic hydrocarbon biosynthetic process biological_process protein metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general. Includes protein modification. GO:0006411 GO:0019538 Wikipedia:Protein_metabolism biological_process protein metabolic process and modification protein metabolism protein metabolism and modification organophosphate metabolic process The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. GO:0019637 biological_process organophosphate metabolism ribose phosphate metabolic process The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. GO:0019693 biological_process ribose phosphate metabolism outer membrane The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites. GO:0019867 cellular_component cell cycle process The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. GO:0022402 biological_process signal transduction by phosphorylation A process in which the transfer of one or more phosphate groups to a substrate transmits a signal to the phosphorylated substrate. 2010-02-16T09:30:50Z GO:0023014 biological_process signal transduction via phosphorylation event signal transmission via phosphorylation event bacterial thylakoid A thylakoid that is derived from and attached to, but not necessarily continuous with, the plasma membrane, and is not enclosed in a plastid. It bears the photosynthetic pigments in photosynthetic cyanobacteria. natural killer cell activation The change in morphology and behavior of a natural killer cell in response to a cytokine, chemokine, cellular ligand, or soluble factor. GO:0030101 NK cell activation biological_process transport vesicle ER to Golgi transport vesicle coated vesicle platelet activation A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. GO:0030168 Reactome:REACT_103583 Reactome:REACT_105599 Reactome:REACT_108920 Reactome:REACT_109042 Reactome:REACT_118465 Reactome:REACT_28166 Reactome:REACT_29092 Reactome:REACT_29357 Reactome:REACT_32211 Reactome:REACT_798 Reactome:REACT_82375 Reactome:REACT_82964 Reactome:REACT_83720 Reactome:REACT_85922 Reactome:REACT_86767 Reactome:REACT_86968 Reactome:REACT_88667 Reactome:REACT_88938 Reactome:REACT_92635 Reactome:REACT_96250 Reactome:REACT_97013 biological_process blood coagulation, platelet activation estrogen receptor activity Combining with estrogen and transmitting the signal within the cell to trigger a change in cell activity or function. external encapsulating structure A structure that lies outside the plasma membrane and surrounds the entire cell. GO:0030312 cellular_component cell envelope An envelope that surrounds a bacterial cell and includes the cytoplasmic membrane and everything external, encompassing the periplasmic space, cell wall, and outer membrane if present. GO:0030313 Wikipedia:Cell_envelope cellular_component host cell cytoplasm GO:0030430 The cytoplasm of a host cell. cellular_component sleep A readily reversible suspension of sensorimotor interaction with the environment, usually associated with recumbency and immobility. A readily reversible suspension of sensorimotor interaction with the environment, usually associated with recumbency and immobility.[accessedResource: MSH:D012890][accessDate: 05-04-2011] MSH:D012890 Sleep, Slow Wave Sleep, Slow Wave[accessedResource: MSH:D012890][accessDate: 05-04-2011] Sleep, Slow-Wave Sleep, Slow-Wave[accessedResource: MSH:D012890][accessDate: 05-04-2011] Slow-Wave Sleep Slow-Wave Sleep[accessedResource: MSH:D012890][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0003937 true transport vesicle membrane constitutive secretory pathway transport vesicle membrane GO:0030658 The lipid bilayer surrounding a transport vesicle. cellular_component secretory vesicle membrane cytoplasmic vesicle membrane The lipid bilayer surrounding a cytoplasmic vesicle. GO:0030659 cellular_component coated vesicle membrane GO:0030662 The lipid bilayer surrounding a coated vesicle. cellular_component extracellular matrix A structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals and bacteria) or be part of the cell (as in plants). GO:0031012 Wikipedia:Extracellular_matrix cellular_component organelle membrane GO:0031090 The lipid bilayer surrounding an organelle. cellular_component cytoplasmic vesicle response to methotrexate response to amethopterin true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methotrexate (formerly amethopterin) stimulus. Methotrexate is 4-amino-10-methylformic acid, a folic acid analogue that is a potent competitive inhibitor of dihydrofolate reductase. Methotrexate is used in the treatment of cancer, immune diseases, ectopic pregnancy and medical terminations. organelle envelope chloroplast membrane Either of the lipid bilayers that surround a chloroplast and form the chloroplast envelope. GO:0031969 Wikipedia:Chloroplast_membrane cellular_component organelle envelope lumen The region between the inner and outer lipid bilayers of an organelle envelope. GO:0031970 cellular_component organelle intermembrane space membrane-enclosed lumen nuclear lumen developmental process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. GO:0032502 biological_process development secretion by cell GO:0032940 The controlled release of a substance by a cell. Wikipedia:Secretion biological_process cellular secretion progesterone receptor binding Interacting selectively and non-covalently with a progesterone receptor. response to vitamin Helen Parkinson http://purl.obolibrary.org/obo/GO_0033273 true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vitamin stimulus. protein glycosylation in endoplasmic reticulum The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the endoplasmic reticulum. protein amino acid glycosylation in endoplasmic reticulum GO:0033577 biological_process core glycosylation protein amino acid glycosylation in ER host cell part Any constituent part of a host cell. The host is defined as the larger of the organisms involved in a symbiotic interaction. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0033643 cellular_component host intracellular part Any constituent part of the living contents of a host cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. The host is defined as the larger of the organisms involved in a symbiotic interaction. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0033646 cellular_component host cell intracellular part cellular nitrogen compound metabolic process The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. GO:0034641 Reactome:REACT_102000 Reactome:REACT_103710 Reactome:REACT_107293 Reactome:REACT_108179 Reactome:REACT_109042 Reactome:REACT_13 Reactome:REACT_28699 Reactome:REACT_29108 Reactome:REACT_32429 Reactome:REACT_33347 Reactome:REACT_34326 Reactome:REACT_55564 Reactome:REACT_77741 Reactome:REACT_82379 Reactome:REACT_86268 Reactome:REACT_90299 Reactome:REACT_91959 Reactome:REACT_93580 Reactome:REACT_95666 Reactome:REACT_98086 Reactome:REACT_99241 biological_process cellular nitrogen compound metabolism nucleobase-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. nucleobase, nucleoside, nucleotide and nucleic acid anabolism nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis nucleobase, nucleoside, nucleotide and nucleic acid formation nucleobase, nucleoside, nucleotide and nucleic acid synthesis GO:0034654 biological_process response to interferon beta Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-beta stimulus. Interferon-beta is a type I interferon. true protein modification process The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). 2012-04-26T01:47:12Z GO:0036211 biological_process protein modification rfoulger response to diruetic true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a diuretic stimulus. A diuretic is an agent that promotes the excretion of urine through its effects on kidney function. response to methylphenidate true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methylphenidate stimulus. Methylphenidate is a psychostimulant drug. response to gemcitabine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gemcitabine stimulus. Gemcitabine is a 2'-deoxycytidine having geminal fluoro substituents in the 2'-position, and is used as a drug in the treatment of various carcinomas. true response to statin true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a statin stimulus, a compound that inhibits HMG-CoA reductases. response to lapatinib true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lapatinib stimulus. Lapatinib is a drug used to treat solid tumours. response to 5' fluorouracil true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 5-fluorouracil stimulus. 5-fluorouracil is a pyrimidine analogue used in treatment of cancer. response to antidepressant Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antidepressant stimulus, a mood-stimulating drug. true response to anticonvulsant Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anticonvulsant stimulus, a drug used to prevent seizures or reduce their severity. true response to iloperidone true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to iloperidone, an atypical antipsychotic used in the treatment of schizophrenia. response to ximelagatran Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to ximelagatran stimulus. Ximelagatran is a direct thrombin inhibitor and anticoagulant drug. Awaiting a GO import. true signaling receptor activity Receiving a signal and transmitting the signal in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. host cell nucleus A membrane-bounded organelle as it is found in the host cell in which chromosomes are housed and replicated. The host is defined as the larger of the organisms involved in a symbiotic interaction. GO:0033649 GO:0042025 cellular_component wound healing macrophage activation A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. GO:0042116 biological_process plastid membrane Either of the lipid bilayers that surround a plastid and form the plastid envelope. GO:0042170 cellular_component purine nucleoside metabolic process The chemical reactions and pathways involving one of a family of organic molecules consisting of a purine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside). GO:0042278 biological_process purine metabolic process purine metabolism purine nucleoside metabolism purine nucleoside biosynthetic process The chemical reactions and pathways resulting in the formation of any purine nucleoside, one of a family of organic molecules consisting of a purine base covalently bonded to a sugar ribose (a ribonucleoside) or deoxyribose (a deoxyribonucleoside). GO:0042451 biological_process purine nucleoside anabolism purine nucleoside biosynthesis purine nucleoside formation purine nucleoside synthesis ribonucleoside biosynthetic process The chemical reactions and pathways resulting in the formation of any ribonucleoside, a nucleoside in which purine or pyrimidine base is linked to a ribose (beta-D-ribofuranose) molecule. GO:0042455 biological_process ribonucleoside anabolism ribonucleoside biosynthesis ribonucleoside formation ribonucleoside synthesis odontogenesis Dani Welter MSH:D009805 The process of TOOTH formation. It is divided into several stages including: the dental lamina stage, the bud stage, the cap stage, and the bell stage. Odontogenesis includes the production of tooth enamel ( AMELOGENESIS), dentin ( DENTINOGENESIS), and dental cementum ( CEMENTOGENESIS). http://www.ebi.ac.uk/efo/EFO_0004349 primary tooth development tooth development true response to drug Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet aggegration inhibitor. Helen Parkinson GO:0042493 Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. drug resistance drug susceptibility/resistance Helen Parkinson true hyperosmotic salinity response Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of detection of, or exposure to, an increase in the concentration of salt (particularly but not exclusively sodium and chloride ions) in the environment. GO:0042538 biological_process response to hyperosmotic salt stress salt tolerance behavioral response to water deprivation Any process that results in a change in the behavior of an organism as a result of deprivation of water. GO:0042630 behavioral response to drought behavioral response to thirst behavioural response to water deprivation biological_process neuron projection A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. GO:0043005 NIF_Subcellular:sao-867568886 cellular_component neurite neuron process neuron protrusion neuronal cell projection macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. GO:0043170 GO:0043283 biological_process biopolymer metabolic process macromolecule metabolism myelin sheath An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. GO:0043209 NIF_Subcellular:sao-593830697 Schwann cell myelin sheath Wikipedia:Myelin astrocyte sheath cellular_component oligodendrocyte myelin sheath organelle Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. GO:0043226 NIF_Subcellular:sao1539965131 Wikipedia:Organelle cellular_component membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. GO:0043227 NIF_Subcellular:sao414196390 cellular_component membrane-enclosed organelle intracellular organelle Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. GO:0043229 cellular_component extracellular organelle Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. GO:0043230 cellular_component intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. GO:0043231 cellular_component intracellular membrane-enclosed organelle intracellular non-membrane-bounded organelle Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. GO:0043232 cellular_component intracellular non-membrane-enclosed organelle macromolecule modification The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. GO:0043412 biological_process macromolecule glycosylation The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. GO:0043413 biological_process bacterial nucleoid The region of a bacterial cell to which the DNA is confined. GO:0043590 cellular_component extracellular space of host The space within a host but external to the plasma membrane of host cells, e.g. within host bloodstream. GO:0043655 cellular_component host extracellular space intracellular region of host host cell other organism part cellular metabolic process The chemical reactions and pathways by which individual cells transform chemical substances. GO:0044237 biological_process cellular metabolism intermediary metabolism primary metabolic process The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. GO:0044238 biological_process primary metabolism cellular biosynthetic process The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. GO:0044249 biological_process cellular anabolism cellular biosynthesis cellular formation cellular synthesis cellular macromolecule metabolic process The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. GO:0034960 GO:0044260 biological_process cellular biopolymer metabolic process cellular macromolecule metabolism cellular protein metabolic process The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. GO:0044267 Reactome:REACT_101554 Reactome:REACT_102155 Reactome:REACT_105825 Reactome:REACT_106151 Reactome:REACT_108005 Reactome:REACT_109022 Reactome:REACT_17015 Reactome:REACT_32904 Reactome:REACT_34473 Reactome:REACT_80561 Reactome:REACT_81994 Reactome:REACT_82523 Reactome:REACT_85873 Reactome:REACT_86658 Reactome:REACT_89852 Reactome:REACT_91052 Reactome:REACT_93132 Reactome:REACT_96466 Reactome:REACT_99179 biological_process cellular protein metabolism cellular nitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. GO:0044271 biological_process nitrogen compound anabolism nitrogen compound biosynthesis nitrogen compound formation nitrogen compound synthesis symbiosis, encompassing mutualism through parasitism interspecies interaction between organisms Any process in which an organism has an effect on an organism of a different species. GO:0044419 biological_process interaction with another species interspecies interaction interspecies interaction with other organisms extracellular region part Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044421 cellular_component organelle part Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044422 cellular_component intracellular part Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044424 cellular_component membrane part Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044425 cellular_component nuclear part Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044428 cellular_component nucleus component mitochondrial part Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044429 cellular_component mitochondrion component cytoskeletal part Any constituent part of the cytoskeleton, a cellular scaffolding or skeleton that maintains cell shape, enables some cell motion (using structures such as flagella and cilia), and plays important roles in both intra-cellular transport (e.g. the movement of vesicles and organelles) and cellular division. Includes constituent parts of intermediate filaments, microfilaments, microtubules, and the microtrabecular lattice. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044430 cellular_component cytoskeleton component cytoplasmic vesicle part Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044433 cellular_component chloroplast part Any constituent part of a chloroplast, a chlorophyll-containing plastid with thylakoids organized into grana and frets, or stroma thylakoids, and embedded in a stroma. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044434 cellular_component plastid part Any constituent part of a plastid, a member of a family of organelles found in the cytoplasm of plants and some protists, which are membrane-bounded and contain DNA. Plant plastids develop from a common type, the proplastid. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044435 cellular_component cytoplasmic part Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044444 cellular_component cytoplasm component intracellular organelle part synapse part Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044456 cellular_component external encapsulating structure part Any constituent part of an external encapsulating structure, a structure that lies outside the plasma membrane and surrounds the entire cell. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044462 cellular_component cell part Any constituent part of a cell, the basic structural and functional unit of all organisms. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0044464 cellular_component protoplast tooth eruption Dani Welter true The tooth development process in which the teeth enter the mouth and become visible. single-organism process A biological process that involves only one organism. 2012-09-19T15:05:24Z GO:0044699 biological_process janelomax single organism process single organism signaling single-multicellular organism process A biological process occurring within a single, multicellular organism. 2012-09-19T16:07:47Z GO:0044707 biological_process janelomax single-organism metabolic process A metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism. 2012-10-17T15:46:40Z GO:0044710 biological_process janelomax single-organism cellular process Any process that is carried out at the cellular level, occurring within a single organism. 2012-12-11T16:56:55Z GO:0044763 biological_process janelomax single-organism transport single-organism developmental process A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition, involving only one organism. 2012-12-19T12:21:31Z GO:0044767 biological_process janelomax membrane raft Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. GEM domain GO:0045121 Wikipedia:Lipid_raft cellular_component glycolipid-enriched membrane domain lipid raft establishment of protein localization The directed movement of a protein to a specific location. GO:0045184 biological_process establishment of protein localisation protein positioning protein recruitment synapse leukocyte activation A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. GO:0045321 Wikipedia:Immunologic_activation biological_process immune cell activation leucocyte activation ATP metabolic process The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. ATP metabolism GO:0046034 biological_process purine ribonucleoside metabolic process The chemical reactions and pathways involving any ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule. GO:0046128 biological_process purine ribonucleoside metabolism purine ribonucleoside biosynthetic process The chemical reactions and pathways resulting in the formation of any purine ribonucleoside, a nucleoside in which purine base is linked to a ribose (beta-D-ribofuranose) molecule. GO:0046129 biological_process purine ribonucleoside anabolism purine ribonucleoside biosynthesis purine ribonucleoside formation purine ribonucleoside synthesis ribose phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of ribose phosphate, any phosphorylated ribose sugar. GO:0046390 biological_process ribose phosphate anabolism ribose phosphate biosynthesis ribose phosphate formation ribose phosphate synthesis heterocycle metabolic process The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). GO:0046483 biological_process heterocycle metabolism response to antibiotic Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms. Helen Parkinson true chlorosome A large enclosure of aggregated pigment, typically bacteriochlorophyll c (BChl c), that acts as a light-harvesting antenna structure and is characteristic of green photosynthetic bacteria (e.g. Chlorobiaceae). The BChl aggregates are organized into lamellar elements by pigment-pigment rather than pigment-protein interactions. Chlorosomes also contain BChl a, carotenoids, quinones, lipids, and proteins, and are attached to the cytoplasmic membrane via a BChl a-containing protein baseplate. GO:0046858 Wikipedia:Chlorosome cellular_component apoplast The cell membranes and intracellular regions in a plant are connected through plasmodesmata, and plants may be described as having two major compartments: the living symplast and the non-living apoplast. The apoplast is external to the plasma membrane and includes cell walls, intercellular spaces and the lumen of dead structures such as xylem vessels. Water and solutes pass freely through it. GO:0048046 Wikipedia:Apoplast cellular_component organ development Development of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. GO:0048513 Wikipedia:Organogenesis biological_process development of an organ organogenesis system development regulation of biological process Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule. GO:0050789 GO:0050791 biological_process regulation of physiological process regulation of cellular process Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. GO:0050794 GO:0051244 biological_process regulation of cellular physiological process response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0050896 GO:0051869 biological_process physiological response to stimulus response to treatment GO:0050896 Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism. Helen Parkinson sensory perception of taste taste sense true Helen Parkinson http://purl.obolibrary.org/obo/GO_0050909 taste sensation The series of events required for an organism to receive a gustatory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Gustation involves the direct detection of chemical composition, usually through contact with chemoreceptor cells. This is a neurological process. gustation sensory perception of bitter taste Dani Welter The series of events required to receive a bitter taste stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. bitter taste perception bitter taste sensitivity true establishment of localization The directed movement of a cell, substance or cellular entity, such as a protein complex or organelle, to a specific location. GO:0051234 biological_process establishment of localisation response to glucocorticoid stimulus true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. cellular localization A localization process that takes place at the cellular level; as a result of a cellular localization process, a substance or cellular entity, such as a protein complex or organelle, is transported to, and/or maintained in, a specific location within or in the membrane of a cell. establishment and maintenance of cellular localization establishment and maintenance of localization in cell or cell membrane GO:0051641 biological_process cellular localisation intracellular localization localization within cell mitochondrion localization Any process in which a mitochondrion or mitochondria are transported to, and/or maintained in, a specific location within the cell. establishment and maintenance of mitochondria localization establishment and maintenance of mitochondrion localization GO:0051646 biological_process localization of mitochondria localization of mitochondrion mitochondria localization mitochondrial localization mitochondrion localisation establishment of localization in cell The directed movement of a substance or cellular entity, such as a protein complex or organelle, to a specific location within, or in the membrane of, a cell. GO:0051649 biological_process establishment of cellular localization establishment of intracellular localization establishment of localisation in cell establishment of localization within cell positioning within cell interaction with host An interaction between two organisms living together in more or less intimate association. The term host is used for the larger (macro) of the two members of a symbiosis; the various forms of symbiosis include parasitism, commensalism and mutualism. GO:0051701 biological_process cellular response to stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus by a cell and ends with a change in state or activity or the cell. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. GO:0051716 biological_process interaction with other organism via secreted substance involved in symbiotic interaction An interaction with a second organism mediated by a substance secreted by the first organism, where the two organisms are in a symbiotic interaction. interaction with other organism via secreted substance during symbiotic interaction GO:0052047 biological_process interaction with host via secreted substance involved in symbiotic interaction An interaction with the host organism mediated by a substance secreted by the other (symbiont) organism. The host is defined as the larger of the organisms involved in a symbiotic interaction. interaction with host via secreted substance during symbiotic interaction GO:0052048 biological_process nucleobase-containing small molecule metabolic process The cellular chemical reactions and pathways involving a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. nucleobase, nucleoside and nucleotide metabolic process GO:0055086 Reactome:REACT_100770 Reactome:REACT_105851 Reactome:REACT_107755 Reactome:REACT_107894 Reactome:REACT_116039 Reactome:REACT_1698 Reactome:REACT_28046 Reactome:REACT_29205 Reactome:REACT_29767 Reactome:REACT_31512 Reactome:REACT_33967 Reactome:REACT_77113 Reactome:REACT_78257 Reactome:REACT_82673 Reactome:REACT_82902 Reactome:REACT_82978 Reactome:REACT_83845 Reactome:REACT_86759 Reactome:REACT_90903 Reactome:REACT_96600 Reactome:REACT_97332 Reactome:REACT_99343 biological_process nucleobase, nucleoside and nucleotide metabolism response to anticoagulant Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a antocoagulant stimulus. true Helen Parkinson response to aromatase inhibitor Helen Parkinson true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an aromatase inhbitor stimulus. Anastrozole, exemestane, and letrozole are aromatase inhibitors used as adjuvant endocrine therapies. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005737/?tool=pubmed response to platelet aggregation inhibitor Helen Parkinson Helen Parkinson Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platelet aggegration inhibitor. true Awaiting import from GO response to reverse transcriptase inhibitor Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reverse transcriptase inhibtor, a class of drugs used in treatment of HIV/AIDS, e.g. nivirapene. Awaiting an import from GO extracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a lipid bilayer membrane and occurring outside the cell. GO:0065010 cellular_component extracellular membrane-enclosed organelle extracellular vesicular exosome A membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. GO:0070062 cellular_component glycosylation The covalent attachment of a glycosyl residue to a substrate molecule. GO:0070085 Wikipedia:Glycosylation biological_process platelet aggregation Dani Welter MSH:D010974 The attachment of PLATELETS to one another. This clumping together can be induced by a number of agents (e.g., THROMBIN; COLLAGEN) and is part of the mechanism leading to the formation of a THROMBUS. http://www.ebi.ac.uk/efo/EFO_0004332 true cellular response to abiotic stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an abiotic (non-living) stimulus. Note that this term is in the subset of terms that should not be used for direct gene product annotation. Instead, select a child term or, if no appropriate child term exists, please request a new term. Direct annotations to this term may be amended during annotation QC. 2009-12-03T01:02:11Z GO:0071214 biological_process cellular response to abiotic stress midori cellular response to pH Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus. 2009-12-18T11:41:54Z GO:0071467 biological_process midori organic substance metabolic process The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon. 2010-03-08T03:32:18Z GO:0071704 biological_process midori organic molecular entity metabolic process organic molecular entity metabolism organic substance metabolism cell periphery purine-containing compound metabolic process The chemical reactions and pathways involving a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. 2011-01-04T03:03:59Z GO:0072521 biological_process midori purine and derivative metabolic process purine-containing compound metabolism purine-containing compound biosynthetic process The chemical reactions and pathways resulting in the formation of a purine-containing compound, i.e. any compound that contains purine or a formal derivative thereof. 2011-01-04T03:15:29Z GO:0072522 biological_process midori purine and derivative biosynthetic process purine-containing compound anabolism purine-containing compound biosynthesis purine-containing compound formation purine-containing compound synthesis response to cisplatin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cisplatin stimulus. GO:0072718 true Helen Parkinson, imported from GO response to topoisomerase inhibitor Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a topoisomerase inhibitor stimulus. true organophosphate biosynthetic process The chemical reactions and pathways resulting in the biosynthesis of deoxyribose phosphate, the phosphorylated sugar 2-deoxy-erythro-pentose. 2011-02-26T02:22:41Z GO:0090407 biological_process tanyaberardini response to antineoplastic agent Helen Parkinson, requested from GO Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antineoplastic agent stimulus. true response to carboplatin Helen Parkinson, requested from GO. true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carboplatin stimulus. response to antimetabolite Helen Parkinson, requested from GO true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimetabolite stimulus. An antimetabolite is a substance which is structurally similar to a metabolite but which competes with it or replaces it, and so prevents or reduces its normal utilization. response to 5-fluoro-2'-deoxyuridine true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a 5'-fluoro-2-deoxyuridine stimulus.' Helen Parkinson, requested from GO response to cytarabine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytarabine stimulus. true response to antipsychotic drug response to antipsychotic treatment Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antipsychotic drug stimulus. Antipsychotic drugs are agents that control agitated psychotic behaviour, alleviate acute psychotic states, reduce psychotic symptoms, and exert a quieting effect. Helen Parkinson, requested from GO true response to olanzapine true Helen Parkinson, requested from GO Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a olanzapine stimulus. response to perphenazine Helen Parkinson, requested from GO true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a perphenazine stimulus. response to quetiapine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a quetiapine stimulus. Helen Parkinson, requested from GO true response to risperidone Helen Parkinson, requested from GO. Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a risperdone stimulus. true response to ziprasidone true Helen Parkinson, requested from GO Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ziprasidone stimulus. response to clozapine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a clozapine stimulus. true Helen Parkinson, requested from GO response to bronchodilator true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus with a bronchodilator agent. (CHEBI:35523 bronchodilator agent) carbohydrate derivative metabolic process The chemical reactions and pathways involving carbohydrate derivative. 2012-07-12T04:05:09Z GO:1901135 bf biological_process carbohydrate derivative metabolism carbohydrate derivative biosynthetic process The chemical reactions and pathways resulting in the formation of carbohydrate derivative. 2012-07-12T04:05:39Z GO:1901137 bf biological_process carbohydrate derivative anabolism carbohydrate derivative biosynthesis carbohydrate derivative formation carbohydrate derivative synthesis nucleoside phosphate biosynthetic process The chemical reactions and pathways resulting in the formation of a nucleoside phosphate. 2012-08-20T12:33:45Z GO:1901293 bf biological_process nucleoside phosphate anabolism nucleoside phosphate biosynthesis nucleoside phosphate formation nucleoside phosphate synthesis organic cyclic compound metabolic process The chemical reactions and pathways involving organic cyclic compound. 2012-09-14T09:03:51Z GO:1901360 bf biological_process organic cyclic compound metabolism organic cyclic compound biosynthetic process The chemical reactions and pathways resulting in the formation of organic cyclic compound. 2012-09-14T09:05:22Z GO:1901362 bf biological_process organic cyclic compound anabolism organic cyclic compound biosynthesis organic cyclic compound formation organic cyclic compound synthesis response to acetaminophen Awaiting GO term import Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an acetaminophen stimulus. acetaminophen is a non narcotic analgesic, a non steroidal anti inflammatory and an anti pyretic. true Helen Parkinson response to paracetamol response to paclitaxel true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a paclitaxel, an antineoplastic agent derived from yew. Ref CHEBI:45863. http://www.ebi.ac.uk/chebi/searchId.do;B01F108A23E036B88EFB4830DE5224F7?chebiId=CHEBI:45863 Awaiting an import from GO. response to taxol Helen Parkinson response to candesartan Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a candesartan stimulus. Candesartan is an angiotensin II receptor antagonist used mainly for the treatment of hypertension. CHEBI:3347 true awaiting import from GO Helen Parkinson response to fenofibrate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a fenofibrate stimulus. Fenofibrates are a class of fibrate drugs which is mainly used to reduce cholesterol levels in patients at risk of cardiovascular disease. Like other fibrates, it reduces both low-density lipoprotein (LDL) and very low density lipoprotein (VLDL) levels, as well as increasing high-density lipoprotein (HDL) levels and reducing triglycerides level. It is used alone or in conjunction with statins in the treatment of hypercholesterolemia and hypertriglyceridemia. CHEBI:5001 Helen Parkinson Awaiting a GO import response to metformin true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus. Metformin is an oral antidiabetic drug in the biguanide class. It is the first-line drug of choice for the treatment of type 2 diabetes, in particular, in overweight and obese people and those with normal kidney function. Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus. Metformin is an oral antidiabetic drug in the biguanide class. It is the first-line drug of choice for the treatment of type 2 diabetes, in particular, in overweight and obese people and those with normal kidney function. Helen Parkinson response to ribavirin http://www.ebi.ac.uk/efo/EFO_0004858 Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ribavirin stilumulus. Ribavirin is a drug used to treat hepatis C and other viral diseases. true Helen Parkinson response to camptothecin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a camptothecin stimulus. true organonitrogen compound metabolic process The chemical reactions and pathways involving organonitrogen compound. 2012-11-04T15:17:52Z GO:1901564 biological_process organonitrogen compound metabolism pr organonitrogen compound biosynthetic process The chemical reactions and pathways resulting in the formation of organonitrogen compound. 2012-11-04T15:18:00Z GO:1901566 biological_process organonitrogen compound anabolism organonitrogen compound biosynthesis organonitrogen compound formation organonitrogen compound synthesis pr organic substance biosynthetic process The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon. 2012-11-05T11:04:40Z GO:1901576 biological_process organic molecular entity anabolism organic molecular entity biosynthesis organic molecular entity biosynthetic process organic molecular entity formation organic molecular entity synthesis organic substance anabolism organic substance biosynthesis organic substance formation organic substance synthesis pr glycosyl compound metabolic process The chemical reactions and pathways involving glycosyl compound. 2012-11-20T14:24:07Z GO:1901657 biological_process glycosyl compound metabolism pr glycosyl compound biosynthetic process The chemical reactions and pathways resulting in the formation of glycosyl compound. 2012-11-20T14:24:19Z GO:1901659 biological_process glycosyl compound anabolism glycosyl compound biosynthesis glycosyl compound formation glycosyl compound synthesis pr response to tamsulosin Helen Parkinson true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tamsulosin stimulus. Tamsulosin is an alphablocker used in the treatment of difficulty urinating, a common symptom of prostate cancer. response to cyclophosphamide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cyclophosphamide stimulus. true response to docetaxel Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a docetaxel stimulus. true response to etoposide Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an etoposide stimulus. true response to doxorubicin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a doxorubicin stimulus. true response to epirubicin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epirubicin stimulus. true response to temozolomide true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temozolomide stimulus. temozolomide is a an alkyalting/methylating agent used in the treatment of glioblastoma multiforme and melanoma. http://en.wikipedia.org/wiki/Temozolomide Helen Parkinson callus formation The process by which a callus is formed at a wound site. A plant callus is a portion of plant tissue that consists of mass of undifferentiated plant cells. It consists primarily of parenchyma cells but possibly contains other cell types as the callus begins to differentiate. 2013-05-29T22:02:52Z GO:1990110 biological_process tb cognitive decline mental deterioration Loss of previously present mental abilities, generally in adults. true progressive cognitive decline Intellectual deterioration intussusception chronic bronchitis aspirin induced asthma aspirin induced respiratory disease (non-exact synonym) true Aspirin induced asthma is caused by an anomaly in the arachidonic acid cascade, which causes increased production of cysteinyl leukotrienes, a series of chemicals involved in the body's inflammatory response. When medications like NSAIDs or aspirin block the COX-1 enzyme, prostaglandin and thromboxane production is decreased, which causes the overproduction of leukotrienes and produces the severe asthma and allergy-like effects. Although the underlying cause is not fully understood, the attachment of platelets to certain leukocytes in the blood may contribute to the overproduction of leukotrienes http://en.wikipedia.org/wiki/Aspirin-induced_asthma label A label is a symbol that is part of some other datum and is used to either partially define the denotation of that datum or to provide a means for identifying the datum as a member of the set of data with the same label. IAO Group data item Data is an information entity that is intended to be a truthful statement about something (modulo, e.g., measurement precision or other systematic errors) and is constructed/acquired by a method which reliably tends to produce (approximately) truthful statements. IAO information entity An information entity is an entity that represents information about some other entity. For example, a measurement, a clustered data set. James Malone an information content entity is an entity that is generically dependent on some artifact and stands in relation of aboutness to some entity http://www.ebi.ac.uk/efo/EFO_0001435 information information content entity true data format specification Alan Ruttenberg A data format specification is the information content borne by the document published defining the specification. Example: The ISO document specifying what encompasses an XML document; The instructions in a XSD file data set A data set is an information entity that is an aggregate of other information entities that have something in common and are considered to form a unit. James Malone http://www.ebi.ac.uk/efo/EFO_0001445 image An image is an affine projection to a two dimensional surface, of measurements of some quality of an entity or entities repeated at regular intervals across a spatial range, where the measurements are represented as color and luminosity on the projected on surface. OBI pathogenicity The ability of a pathogen to produce an infectious disease or disorder in an organism. IDO editors Streptomyces coelicolor A3(2) Class imported / merged by efoimporter GC_ID:11 NCBITaxon:100226 ncbi_taxonomy Cricetulus griseus Chinese hamster Chinese hamsters Class imported / merged by efoimporter Cricetulus aureus Cricetulus barabensis griseus Cricetus griseus GC_ID:1 NCBITaxon:10029 ncbi_taxonomy Chinese hamster Cricetus griseus Cricetulus aureus Chinese hamsters Cricetulus barabensis griseus Mesocricetus auratus Class imported / merged by efoimporter GC_ID:1 Golden hamsters Microcricetus aureus NCBITaxon:10036 Syrian golden hamster Syrian golden hamsters Syrian hamster Syrian hamsters golden hamster ncbi_taxonomy Golden hamsters Microcricetus aureus Syrian hamsters Syrian hamster golden hamster Syrian golden hamster Syrian golden hamsters Phodopus sungorus Class imported / merged by efoimporter Djungarian hamster Djungarian hamster also in use for Phodopus campbelli Dzhungarian hamster GC_ID:1 NCBITaxon:10044 Siberian hamster ncbi_taxonomy striped hairy-footed hamster Djungarian hamster Djungarian hamster also in use for Phodopus campbelli striped hairy-footed hamster Siberian hamster Dzhungarian hamster Mus James Malone Mus (commonly mice) is a small mammal belonging to the order of rodents. http://www.ebi.ac.uk/efo/EFO_0002644 mice mouse Mus caroli Class imported / merged by efoimporter GC_ID:1 James Malone Mus formosanus NCBITaxon:10089 Ryukyu mouse ncbi_taxonomy ricefield mouse ricefield mouse Mus formosanus Ryukyu mouse Mus musculus Class imported / merged by efoimporter GC_ID:1 James Malone Mus muscaris NCBITaxon:10090 house mouse mice C57BL/6xCBA/CaJ hybrid mouse ncbi_taxonomy Mus muscaris mice C57BL/6xCBA/CaJ hybrid mouse house mouse Mus musculus castaneus Class imported / merged by efoimporter GC_ID:1 James Malone Mus castaneus Mus casteneus Mus musculus castenus NCBITaxon:10091 ncbi_taxonomy southeastern Asian house mouse Mus castaneus southeastern Asian house mouse Mus casteneus Mus musculus castenus Mus musculus domesticus Class imported / merged by efoimporter GC_ID:1 James Malone Mus domesticus Mus musculus praetextus Mus praetextus NCBITaxon:10092 ncbi_taxonomy western European house mouse western European house mouse Mus musculus praetextus Mus domesticus Mus praetextus Mus spretus Algerian mouse Class imported / merged by efoimporter GC_ID:1 James Malone Mus musculus spretus NCBITaxon:10096 ncbi_taxonomy western wild mouse Mus musculus spretus Algerian mouse western wild mouse Mastomys natalensis African soft-furred rat Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10112 Natal multimammate mouse Natal multimammate rat Praomys natalensis ncbi_taxonomy Natal multimammate rat African soft-furred rat Praomys natalensis Natal multimammate mouse Rattus Mammals, Rats NIFSTD:birnlex_160 Rat[accessedResource: NIFSTD:birnlex_160][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001995 rat Rattus norvegicus Class imported / merged by efoimporter GC_ID:1 Gunn rats James Malone NCBITaxon:10116 Norway rat Rattus norvegicus8 Rattus norwegicus Rattus rattiscus Rattus sp. strain Wistar brown rat ncbi_taxonomy rat rats Rattus sp. strain Wistar Norway rat Gunn rats Rattus norvegicus8 rats brown rat Rattus rattiscus Rattus norwegicus rat Rattus rattus Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:10117 Rattus rattoides black rat house rat ncbi_taxonomy roof rat Rattus rattoides roof rat house rat black rat Microsporum distortum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:101202 ncbi_taxonomy Lilium hybrid division VII Class imported / merged by efoimporter GC_ID:1 Lilium hybrid cultivar VII cv. 'Acapulco' NCBITaxon:101269 ncbi_taxonomy Lilium hybrid cultivar VII cv. 'Acapulco' Rhodococcus jostii RHA1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:101510 Rhodococcus jostii str. RHA1 Rhodococcus jostii strain RHA1 Rhodococcus sp. (strain RHA1) Rhodococcus sp. RHA1 ncbi_taxonomy Rhodococcus jostii str. RHA1 Rhodococcus jostii strain RHA1 Rhodococcus sp. (strain RHA1) Rhodococcus sp. RHA1 Heterocephalus glaber Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10181 naked mole rat naked mole-rat ncbi_taxonomy naked mole-rat naked mole rat Collinsella Class imported / merged by efoimporter Collinsella Kageyama et al. 1999 emend. Kageyama and Benno 2000 GC_ID:11 NCBITaxon:102106 ncbi_taxonomy Collinsella Kageyama et al. 1999 emend. Kageyama and Benno 2000 Trichoplax adhaerens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10228 ncbi_taxonomy Virus Animal Virus Animal Virus[accessedResource: MSH:D014780][accessDate: 05-04-2011] Animal Viruses Animal Viruses[accessedResource: MSH:D014780][accessDate: 05-04-2011] GC_ID:1 James Malone Jie Zheng MO_372 MSH:D014780 Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells. Minute infectious agents whose genomes are composed of DNA or RNA, but not both. They are characterized by a lack of independent metabolism and the inability to replicate outside living host cells.[accessedResource: MSH:D014780][accessDate: 05-04-2011] NCBITaxon:10239 Tomasz Adamusiak Vira Viridae Virus, Animal Virus, Animal[accessedResource: MSH:D014780][accessDate: 05-04-2011] Viruses Viruses, Animal Viruses, Animal[accessedResource: MSH:D014780][accessDate: 05-04-2011] Viruses[accessedResource: MSH:D014780][accessDate: 05-04-2011] Zoophaginae Zoophaginae[accessedResource: MSH:D014780][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#virus http://www.ebi.ac.uk/efo/EFO_0001450 ncbi_taxonomy viruses Vaccinia virus Lister Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10252 Vaccinia virus (strain Lister) ncbi_taxonomy Vaccinia virus (strain Lister) Human herpesvirus 1 Class imported / merged by efoimporter GC_ID:1 HSV-1 HSV1 Herpes simplex virus 1 Herpes simplex virus type 1 Human Herpesvirus-1 Human herpesvirus type 1 NCBITaxon:10298 herpes simplex virus 1 HSV-1 herpes simplex virus HSV-1 herpes simplex virus type 1 HSV-1 herpes simplex virus type 1 HSV1 herpes simplex virus type-1 HSV-1 ncbi_taxonomy herpes simplex virus type 1 HSV1 HSV-1 Herpes simplex virus type 1 herpes simplex virus type 1 HSV-1 Human Herpesvirus-1 herpes simplex virus HSV-1 Human herpesvirus type 1 Herpes simplex virus 1 herpes simplex virus 1 HSV-1 HSV1 herpes simplex virus type-1 HSV-1 Vitis rotundifolia Class imported / merged by efoimporter GC_ID:1 Muscadinia rotundifolia NCBITaxon:103349 fox grape muscadine ncbi_taxonomy muscadine fox grape Muscadinia rotundifolia Vitis amurensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:103351 Vitis amurensis Rupr. ncbi_taxonomy Vitis amurensis Rupr. Human herpesvirus 5 strain Towne Class imported / merged by efoimporter GC_ID:1 Human cytomegalovirus (strain Towne) Human herpesvirus 5 (strain Towne) NCBITaxon:10363 ncbi_taxonomy Human herpesvirus 5 (strain Towne) Human cytomegalovirus (strain Towne) Human herpesvirus 4 Class imported / merged by efoimporter EPV Epstein-Barr virus Epstein-Barr virus EBV Epstein-Barr-virus EBV GC_ID:1 HHV-4 Human herpesvirus type 4 NCBITaxon:10376 ncbi_taxonomy Epstein-Barr virus EBV Human herpesvirus type 4 EPV Epstein-Barr virus Epstein-Barr-virus EBV HHV-4 Lactobacillus kimchii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:103818 ncbi_taxonomy Herpesvirus saimiri (strain 11) Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10383 ncbi_taxonomy Ovine herpesvirus 2 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10398 OvHV-2 OvHV2 Ovine herpesvirus type 2 Sheep-associated malignant catarrhal fever virus ncbi_taxonomy ovine herpesvirus-2 OHV-2 ovine herpesvirus-2 OHV-2 Ovine herpesvirus type 2 Sheep-associated malignant catarrhal fever virus OvHV2 OvHV-2 Postia placenta Class imported / merged by efoimporter GC_ID:1 NCBITaxon:104341 ncbi_taxonomy Camponotus floridanus Camponotus floridana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:104421 ncbi_taxonomy Camponotus floridana Pinctada maxima Class imported / merged by efoimporter GC_ID:1 NCBITaxon:104660 ncbi_taxonomy Zymoseptoria tritici Class imported / merged by efoimporter GC_ID:1 Mycosphaerella graminicola NCBITaxon:1047171 Septoria tritici ncbi_taxonomy Septoria tritici Mycosphaerella graminicola Iridovirus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10487 ncbi_taxonomy small iridescent insect viruses small iridescent insect viruses Lactobacillus frumenti Class imported / merged by efoimporter GC_ID:11 Lactobacillus cerealis Lactobacillus frumenti Muller et al. 2000 NCBITaxon:104955 ncbi_taxonomy Lactobacillus frumenti Muller et al. 2000 Lactobacillus cerealis Paramecium bursaria Chlorella virus 1 Chlorella PBCV-1 virus Chlorella virus PBCV-1 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10506 PBCV-1 Paramecium bursaria Chlorella virus 1, PBCV-1 Paramecium bursaria Chlorella virus PBCV-1 ncbi_taxonomy Chlorella PBCV-1 virus Chlorella virus PBCV-1 Paramecium bursaria Chlorella virus PBCV-1 PBCV-1 Paramecium bursaria Chlorella virus 1, PBCV-1 Human adenovirus 7 Adenovirus type 7 Class imported / merged by efoimporter GC_ID:1 Human adenovirus serotype 7 Human adenovirus type 7 Human adenoviruses type 7 Humann adenovirus type 7 Mastadenovirus 7 Mastadenovirus h7 Mastadenovirus p7 NCBITaxon:10519 human adenovirus type 7 Ad7 human adenoviruses type 7 Ad7 ncbi_taxonomy human adenoviruses type 7 Ad7 Mastadenovirus 7 Human adenovirus type 7 Human adenoviruses type 7 Humann adenovirus type 7 Human adenovirus serotype 7 human adenovirus type 7 Ad7 Mastadenovirus p7 Adenovirus type 7 Mastadenovirus h7 Human adenovirus 41 Adenovirus type 41 Class imported / merged by efoimporter GC_ID:1 Human adenovirus type 41 Mastadenovirus 41 Mastadenovirus h41 NCBITaxon:10524 ncbi_taxonomy Human adenovirus type 41 Mastadenovirus 41 Adenovirus type 41 Mastadenovirus h41 Human papillomavirus Class imported / merged by efoimporter GC_ID:1 Human Papilloma Virus NCBITaxon:10566 human papillomavirus HPV ncbi_taxonomy human papillomavirus HPV Human Papilloma Virus BK polyomavirus BK virus BK virus BKV BKV Class imported / merged by efoimporter GC_ID:1 Human polyomavirus (type BK) Human polyomavirus BK Human polyomavirus BKV NCBITaxon:10629 Papovavirus BKV Polyomavirus hominis 1 human polyomavirus type BK BKV ncbi_taxonomy polyomavirus BK polyomavirus homonis 1 Polyomavirus hominis 1 human polyomavirus type BK BKV BK virus Human polyomavirus BK Papovavirus BKV polyomavirus homonis 1 Human polyomavirus BKV BKV BK virus BKV polyomavirus BK Human polyomavirus (type BK) Rhodobacter sphaeroides Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1063 Rhodococcus capsulatus Rhodococcus minor Rhodopseudomonas sphaeroides Rhodopseudomonas spheroides Rhodorhagus capsulatus Rhodorhagus minor Rhodorrhagus capsulatus Rhodorrhagus spheroides Rhodosphaera capsulata Rhodosphaera minor ncbi_taxonomy Rhodorrhagus capsulatus Rhodosphaera capsulata Rhodorhagus minor Rhodosphaera minor Rhodococcus capsulatus Rhodorrhagus spheroides Rhodorhagus capsulatus Rhodopseudomonas spheroides Rhodopseudomonas sphaeroides Rhodococcus minor Myoviridae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:10662 ncbi_taxonomy phages with contractile tails phages with contractile tails Pachycladon cheesemanii Cheesemania enysii Cheesemania enysii O.E.Schulz Class imported / merged by efoimporter GC_ID:1 NCBITaxon:106773 Pachycladon cheesemanii Heenan & A.D.Mitch. Pachycladon cheesemannii Sisymbrium novae-zelandiae Hook.f. ncbi_taxonomy Sisymbrium novae-zelandiae Hook.f. Pachycladon cheesemannii Cheesemania enysii Pachycladon cheesemanii Heenan & A.D.Mitch. Cheesemania enysii O.E.Schulz Pachycladon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:106787 Pachycladon Hook.f. ncbi_taxonomy Pachycladon Hook.f. Pachycladon novaezelandiae Class imported / merged by efoimporter GC_ID:1 Ischnocarpus novae-zelandiae NCBITaxon:106788 Pachycladon novae-zealandiae Pachycladon novae-zelandiae ncbi_taxonomy Pachycladon novae-zealandiae Pachycladon novae-zelandiae Ischnocarpus novae-zelandiae Noccaea caerulescens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:107243 Thlaspi caerulescens ncbi_taxonomy Thlaspi caerulescens Podoviridae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:10744 ncbi_taxonomy phages with short tails phages with short tails Rhodopseudomonas palustris Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1076 Rhodobacillus palustris Rhodobacter palustris Rhodobacterium capsulatum Rhodomonas palustris Rhodopseudomonas palustris (Molisch 1907) van Niel 1944 Rhodopseudomonas rutila Rhodopseudomonas rutila Akiba et al. 1983 Rhodovibrio parvus ncbi_taxonomy NCBITaxonRef:Molisch_1907 Rhodobacterium capsulatum Rhodopseudomonas rutila Akiba et al. 1983 Rhodomonas palustris Rhodopseudomonas rutila Rhodobacter palustris Rhodobacterium capsulatum NCBITaxonRef:Molisch_1907 Rhodovibrio parvus NCBITaxonRef:Molisch_1907 Rhodobacillus palustris Rhodobacillus palustris Rhodovibrio parvus Rhodopseudomonas palustris (Molisch 1907) van Niel 1944 NCBITaxonRef:Molisch_Kluyver_and_van_Niel_1936 Rhodomonas palustris Tomato yellow leaf curl virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:10832 TYLCV ncbi_taxonomy tomato yellow leaf curl begomovirus tomato yellow leaf curl geminivirus tomato yellow leaf curl virus TYLCV tomato yellow leaf curl begomovirus tomato yellow leaf curl geminivirus TYLCV tomato yellow leaf curl virus TYLCV Rhodospirillum rubrum Class imported / merged by efoimporter Dicrospirillum rubrum GC_ID:11 NCBITaxon:1085 Rhodospirillum giganteum Rhodospirillum gracile Rhodospirillum longum Spirillum rubrum ncbi_taxonomy Dicrospirillum rubrum Rhodospirillum gracile Rhodospirillum giganteum Rhodospirillum longum Spirillum rubrum Salmonella enterica subsp. enterica serovar Newport Class imported / merged by efoimporter GC_ID:11 NCBITaxon:108619 Salmonella newport Salmonella serotype Newport ncbi_taxonomy Salmonella newport Salmonella serotype Newport Haliotis asinina Class imported / merged by efoimporter GC_ID:1 NCBITaxon:109174 ncbi_taxonomy Dengue virus 1 Class imported / merged by efoimporter Dengue virus type 1 GC_ID:1 NCBITaxon:11053 Type 1 dengue virus dengue type 1 D1 virus dengue virus type 1 DEN1 dengue virus type I dengue virus-1 DEN-1 ncbi_taxonomy type 1 dengue virus DEN-1 dengue type 1 D1 virus type 1 dengue virus DEN-1 dengue virus type I Dengue virus type 1 dengue virus-1 DEN-1 dengue virus type 1 DEN1 Type 1 dengue virus Dengue virus 2 Class imported / merged by efoimporter Dengue virus type 2 Dengue virus type II GC_ID:1 NCBITaxon:11060 dengue 2 virus DEN-2 dengue-2 virus dengue-2 virus DEN-2 ncbi_taxonomy dengue-2 virus DEN-2 dengue 2 virus DEN-2 dengue-2 virus Dengue virus type 2 Dengue virus type II Dengue virus 3 Class imported / merged by efoimporter Dengue virus type 3 GC_ID:1 NCBITaxon:11069 dengue 3 virus ncbi_taxonomy Dengue virus type 3 dengue 3 virus Dengue virus 4 Class imported / merged by efoimporter Dengue virus type 4 GC_ID:1 NCBITaxon:11070 dengue type 4 virus DEN4 ncbi_taxonomy Dengue virus type 4 dengue type 4 virus DEN4 West Nile virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11082 WNV ncbi_taxonomy WNV Yellow fever virus Class imported / merged by efoimporter Flavivirus febricis GC_ID:1 NCBITaxon:11089 YFV ncbi_taxonomy yellow fever virus YFV Flavivirus febricis yellow fever virus YFV YFV Bovine viral diarrhea virus 1 BVDV BVDV-1 Bovine viral diarrhea virus Bovine viral diarrhea virus type 1 Bovine viral diarrhea virus-1 Class imported / merged by efoimporter GC_ID:1 Mucosal disease virus NCBITaxon:11099 Pestivirus type 1 bovine viral diarrhea virus BVDV bovine viral diarrhea virus type I ncbi_taxonomy Bovine viral diarrhea virus bovine viral diarrhea virus BVDV Bovine viral diarrhea virus type 1 bovine viral diarrhea virus type I BVDV BVDV-1 Bovine viral diarrhea virus-1 Pestivirus type 1 Mucosal disease virus Cyanobacteria Class imported / merged by efoimporter Cyanophyceae Cyanophycota Cyanophyta GC_ID:11 NCBITaxon:1117 Oxygenic photosynthetic bacteria Oxyphotobacteria blue-green algae blue-green bacteria cyanobacteria cyanophytes ncbi_taxonomy blue-green bacteria Cyanophyta Cyanophycota blue-green algae Oxygenic photosynthetic bacteria cyanophytes Oxyphotobacteria cyanobacteria Cyanophyceae Cuscuta pentagona Class imported / merged by efoimporter Cuscuta pentagona Engelm. GC_ID:1 NCBITaxon:112407 ncbi_taxonomy Cuscuta pentagona Engelm. Human respiratory syncytial virus A strain Long Class imported / merged by efoimporter GC_ID:1 Human respiratory syncytial virus (subgroup A / strain Long) NCBITaxon:11260 ncbi_taxonomy Human respiratory syncytial virus (subgroup A / strain Long) Vesicular stomatitis Indiana virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11277 VSIV ncbi_taxonomy VSIV Rabies virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11292 ncbi_taxonomy Influenza A virus Class imported / merged by efoimporter FLUAV GC_ID:1 Influenza virus type A NCBITaxon:11320 influenza A virus INF A ncbi_taxonomy FLUAV Influenza virus type A influenza A virus INF A Populus tremula Class imported / merged by efoimporter European aspen GC_ID:1 NCBITaxon:113636 Populus tremula L. ncbi_taxonomy Populus tremula L. European aspen Synechococcus elongatus PCC 7942 Anacystis nidulans Anacystis nidulans R2 Anacystis nidulans R2-SPc' Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1140 Syncchococcus PCC7942 Synechococcus 7942 Synechococcus PCC 7942 Synechococcus PCC7942 Synechococcus leopoliensis UTEX 2434 Synechococcus leopoliensis strain PCC 7942 Synechococcus sp. (PCC 7942) Synechococcus sp. (strain PCC 7942) Synechococcus sp. IAM M-200 Synechococcus sp. PCC 7942 Synechococcus sp. PCC7942 Synechocystis sp. PCC 7942 ncbi_taxonomy Anacystis nidulans Synechococcus PCC 7942 Synechococcus sp. (PCC 7942) Synechococcus sp. IAM M-200 Synechocystis sp. PCC 7942 Synechococcus sp. PCC 7942 Synechococcus sp. (strain PCC 7942) Syncchococcus PCC7942 Anacystis nidulans R2 Synechococcus leopoliensis strain PCC 7942 Anacystis nidulans R2-SPc' Synechococcus 7942 Synechococcus PCC7942 Synechococcus sp. PCC7942 Synechococcus leopoliensis UTEX 2434 Parasteatoda tepidariorum Achaearanea tepidariorum Achaearanea tepidarorum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:114398 Parasteatoda tepidariorum (Koch, 1841) Theridion tepidariorum common house spider ncbi_taxonomy Achaearanea tepidarorum Achaearanea tepidariorum Theridion tepidariorum common house spider Parasteatoda tepidariorum (Koch, 1841) Saccharomyces kudriavzevii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:114524 ncbi_taxonomy Saccharomyces mikatae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:114525 Saccharomyces mikatii ncbi_taxonomy Saccharomyces mikatii Synechocystis sp. PCC 6803 Aphanocapsa sp. (strain N-1) Aphanocapsa sp. N-1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1148 Synechocystis 6803 Synechocystis PCC6803 Synechocystis sp. (ATCC 27184) Synechocystis sp. (PCC 6803) Synechocystis sp. (strain PCC 6803) Synechocystis sp. ATCC 27184 Synechocystis sp. PCC6803 Synechocystis sp.PCC6803 ncbi_taxonomy Synechocystis sp. (PCC 6803) Aphanocapsa sp. (strain N-1) Synechocystis sp. PCC6803 Synechocystis sp.PCC6803 Synechocystis 6803 Synechocystis sp. (ATCC 27184) Synechocystis sp. (strain PCC 6803) Aphanocapsa sp. N-1 Synechocystis PCC6803 Synechocystis sp. ATCC 27184 La Crosse virus Bunyavirus la crosse Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11577 ncbi_taxonomy Bunyavirus la crosse Streptomyces maritimus 'Streptomyces maritimus' Class imported / merged by efoimporter GC_ID:11 NCBITaxon:115828 ncbi_taxonomy 'Streptomyces maritimus' Rift Valley fever virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11588 RVFV ncbi_taxonomy RVFV Toscana virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11590 TOS TOSV Toscana virus TOS ncbi_taxonomy TOSV TOS Toscana virus TOS Crimean-Congo hemorrhagic fever virus CCHFV Class imported / merged by efoimporter Crimean Congo Hemorrhagic Fever virus Crimean-Congo haemorrhagic fever virus Crimean-Congo hemorrhagic virus GC_ID:1 NCBITaxon:11593 ncbi_taxonomy Crimean-Congo haemorrhagic fever virus Crimean Congo Hemorrhagic Fever virus CCHFV Crimean-Congo hemorrhagic virus Salmonella enterica subsp. enterica serovar Montevideo Class imported / merged by efoimporter GC_ID:11 NCBITaxon:115981 Salmonella enterica serovar Montevideo Salmonella montevideo ncbi_taxonomy Salmonella montevideo Salmonella enterica serovar Montevideo Hantaan virus Class imported / merged by efoimporter GC_ID:1 Korean hemorrhagic fever virus NCBITaxon:11599 ncbi_taxonomy Korean hemorrhagic fever virus Puumala virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11604 Puumala hantavirus Puumala virus PV Puumalavirus ncbi_taxonomy nephropathia epidemica virus Puumala virus PV nephropathia epidemica virus Puumala hantavirus Puumalavirus Seoul virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11608 Seoul hantavirus epidemic hemorrhagic fever virus ncbi_taxonomy epidemic hemorrhagic fever virus Seoul hantavirus Tomato spotted wilt virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11613 TSWV ncbi_taxonomy tomato spotted wilt virus TSWV tomato spotted wilt virus TSWV TSWV Junin virus Class imported / merged by efoimporter GC_ID:1 Junin arenavirus NCBITaxon:11619 ncbi_taxonomy Junin arenavirus Lassa virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11620 ncbi_taxonomy Lassa virus Josiah Class imported / merged by efoimporter GC_ID:1 Lassa virus (strain Josiah) Lassa virus strain Josiah NCBITaxon:11622 ncbi_taxonomy Lassa virus (strain Josiah) Lassa virus strain Josiah Lymphocytic choriomeningitis virus Class imported / merged by efoimporter GC_ID:1 LCMV NCBITaxon:11623 lymphocytic choriomeningitis virus LCMV ncbi_taxonomy LCMV lymphocytic choriomeningitis virus LCMV Machupo virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11628 ncbi_taxonomy Mopeia virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11629 ncbi_taxonomy Tacaribe virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:11631 TACV ncbi_taxonomy TACV Gibberella moniliformis Class imported / merged by efoimporter Fusarium moniliformae Fusarium moniliforme Fusarium verticillioides GC_ID:1 NCBITaxon:117187 ncbi_taxonomy Fusarium moniliforme Fusarium verticillioides Fusarium moniliformae Methanobacterium congolense Class imported / merged by efoimporter GC_ID:11 NCBITaxon:118062 ncbi_taxonomy Cupriavidus metallidurans Class imported / merged by efoimporter Cupriavidus metallidurans (Goris et al. 2001) Vandamme and Coenye 2004 GC_ID:11 NCBITaxon:119219 Ralstonia metallidurans Ralstonia metallidurans Goris et al. 2001 Wautersia metallidurans Wautersia metallidurans (Goris et al. 2001) Vaneechoutte et al. 2004 ncbi_taxonomy Cupriavidus metallidurans (Goris et al. 2001) Vandamme and Coenye 2004 Wautersia metallidurans (Goris et al. 2001) Vaneechoutte et al. 2004 Wautersia metallidurans Ralstonia metallidurans Ralstonia metallidurans Goris et al. 2001 Streptococcus dysgalactiae subsp. equisimilis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:119602 Streptococcus equisimilis ncbi_taxonomy Streptococcus equisimilis Arthroderma obtusum Class imported / merged by efoimporter GC_ID:1 Microsporum nanum NCBITaxon:119676 ncbi_taxonomy Microsporum nanum Melon necrotic spot virus Class imported / merged by efoimporter GC_ID:1 MNSV NCBITaxon:11987 melon necrotic spot virus MNSV ncbi_taxonomy melon necrotic spot virus MNSV MNSV Salmonella enterica subsp. enterica serovar Choleraesuis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:119912 Salmonella choleraesuis choleraesuis Salmonella choleraesuis serovar Choleraesuis Salmonella enterica serovar Choleraesuis ncbi_taxonomy Salmonella enterica serovar Choleraesuis Salmonella choleraesuis choleraesuis Salmonella choleraesuis serovar Choleraesuis Falco rusticolus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:120794 gyrfalcon ncbi_taxonomy gyrfalcon Southern bean mosaic virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12139 SBMV ncbi_taxonomy southern bean mosaic virus, SBMV SBMV southern bean mosaic virus, SBMV Cymbidium ringspot virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12144 cymbidium ringspot tombusvirus CyRSV ncbi_taxonomy cymbidium ringspot tombusvirus CyRSV Senecio aethnensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:121540 Senecio aethnensis Jan ex DC. ncbi_taxonomy Senecio aethnensis Jan ex DC. Senecio chrysanthemifolius Class imported / merged by efoimporter GC_ID:1 NCBITaxon:121541 Senecio chrysanthemifolius Poir. ncbi_taxonomy Senecio chrysanthemifolius Poir. Senecio squalidus subsp. squalidus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:121555 ncbi_taxonomy Senecio vulgaris subsp. vulgaris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:121558 ncbi_taxonomy Penicillium rugulosum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:121627 ncbi_taxonomy Paracoccidioides brasiliensis Class imported / merged by efoimporter GC_ID:1 Loboa loboi NCBITaxon:121759 ncbi_taxonomy Loboa loboi Potato virus X Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12183 PVX ncbi_taxonomy potato virus X, PVX potato virus X, PVX PVX Prochlorococcus marinus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1219 Prochlorococcus maritima ncbi_taxonomy Prochlorococcus maritima Plum pox virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12211 PPV Plum pox potyvirus ncbi_taxonomy plum pox virus PPV plum pox virus, PPV Plum pox potyvirus plum pox virus PPV plum pox virus, PPV PPV Turnip mosaic virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12230 TuMV ncbi_taxonomy turnip mosaic potyvirus TuMV turnip mosaic virus, TuMV TuMV turnip mosaic virus, TuMV turnip mosaic potyvirus TuMV Pepper mild mottle virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12239 ncbi_taxonomy pepper mild mottle virus PMMV-S pepper mild mottle virus PMMV-S Tobacco mosaic virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12242 TMV ncbi_taxonomy tobacco mosaic virus TMV tobacco mosaic virus, TMV TMV tobacco mosaic virus TMV tobacco mosaic virus, TMV Neisseria meningitidis MC58 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:122586 Neisseria meningitidis serogroup B strain MC58 ncbi_taxonomy Neisseria meningitidis serogroup B strain MC58 Bean pod mottle virus BPMV Bean-pod mottle virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12260 ncbi_taxonomy BPMV Bean-pod mottle virus Arabis mosaic virus AMV Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12271 ncbi_taxonomy nepovirus arabis mosaic virus ArMV nepovirus arabis mosaic virus ArMV AMV Tomato ringspot virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12280 TOMRSV ncbi_taxonomy TOMRSV Tobacco ringspot virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12282 ncbi_taxonomy Flock house virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12287 ncbi_taxonomy Tobacco rattle virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12295 TRV Tobacco Rattle Tobravirus ncbi_taxonomy tobacco rattle virus TRV tobacco rattle virus, TRV TRV tobacco rattle virus, TRV tobacco rattle virus TRV Tobacco Rattle Tobravirus Cucumber mosaic virus CMV Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12305 cucumber mosaic cucumovirus cucumber mosaic cucumovirus CMV cucumber mosaic virus CMV cucumber mosaic virus, CMV ncbi_taxonomy cucumber mosaic virus, CMV cucumber mosaic virus CMV CMV cucumber mosaic cucumovirus CMV cucumber mosaic cucumovirus Cucumber mosaic virus (strain FNY) Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12307 ncbi_taxonomy Leuconostoc mesenteroides Ascococcus mesenteroides Betacoccus arabinosaceus Class imported / merged by efoimporter GC_ID:11 Leuconostoc mesanteroides NCBITaxon:1245 ncbi_taxonomy Leuconostoc mesanteroides Ascococcus mesenteroides Betacoccus arabinosaceus Oenococcus oeni Class imported / merged by efoimporter GC_ID:11 Leuconostoc blayaisense Leuconostoc oeni Leuconostoc oenos NCBITaxon:1247 ncbi_taxonomy Leuconostoc blayaisense Leuconostoc oeni Leuconostoc oenos Mokola virus Class imported / merged by efoimporter GC_ID:1 Mokola lyssavirus NCBITaxon:12538 ncbi_taxonomy Mokola lyssavirus Pediococcus acidilactici Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1254 Pediococcus lindneri ncbi_taxonomy Pediococcus lindneri Omsk hemorrhagic fever virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:12542 Omsk haemorrhagic fever virus Omsk haemorrhagic fever virus OHF ncbi_taxonomy Omsk haemorrhagic fever virus OHF Omsk haemorrhagic fever virus Pediococcus pentosaceus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1255 Pediococcus hennebergii Pediococcus parvulus Pediococcus pentosaceus Mees 1934 Tetracoccus No. 2 ncbi_taxonomy Tetracoccus No. 2 NCBITaxonRef:Gunther_and_White_1961 Pediococcus parvulus NCBITaxonRef:Orla-Jensen_1919 Tetracoccus No. 2 NCBITaxonRef:Sollied_1903 Pediococcus hennebergii Pediococcus pentosaceus Mees 1934 Pediococcus hennebergii Ruminococcus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1263 ncbi_taxonomy Ruminococcus flavefaciens Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1265 ncbi_taxonomy Thermotoga sp. RQ2 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:126740 ncbi_taxonomy Micrococcus luteus Bacteridium luteum Class imported / merged by efoimporter GC_ID:11 Micrococcus lysodeikticus NCBITaxon:1270 Sarcina lutea ncbi_taxonomy Sarcina lutea Bacteridium luteum Micrococcus lysodeikticus Staphylococcus aureus Class imported / merged by efoimporter GC_ID:11 Micrococcus aureus Micrococcus pyogenes NCBITaxon:1280 Staphilococcus aureus Staphlococcus pyogenes citreus Staphylococcus pyogenes aureus Staphylococus aureus Streptococcus aureus ncbi_taxonomy Staphlococcus pyogenes citreus Micrococcus aureus Staphilococcus aureus Micrococcus pyogenes Staphylococcus pyogenes aureus Streptococcus aureus Staphylococus aureus Staphylococcus carnosus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1281 Staphylococcus carnosus Schleifer and Fischer 1982 ncbi_taxonomy Staphylococcus carnosus Schleifer and Fischer 1982 Staphylococcus epidermidis Albococcus epidermidis Class imported / merged by efoimporter GC_ID:11 Micrococcus epidermidis NCBITaxon:1282 Staphylococcus epidermidis albus ncbi_taxonomy Staphylococcus epidermidis albus Albococcus epidermidis Micrococcus epidermidis Staphylococcus haemolyticus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1283 ncbi_taxonomy Rosa hybrid cultivar Class imported / merged by efoimporter GC_ID:1 NCBITaxon:128735 Rosa hybrida Rosa x hybrida ncbi_taxonomy Rosa hybrida Rosa x hybrida Zaire ebolavirus - Gabon (1994-1997) Class imported / merged by efoimporter Ebola virus (strain Gabon-94) Ebola virus strain Gabon-94 GC_ID:1 NCBITaxon:128947 ncbi_taxonomy Ebola virus strain Gabon-94 Ebola virus (strain Gabon-94) Drosophila santomea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:129105 ncbi_taxonomy Polytrichum juniperinum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:129213 Polytrichum juniperum ncbi_taxonomy Polytrichum juniperum Deinococcus Class imported / merged by efoimporter Deinobacter GC_ID:11 NCBITaxon:1298 ncbi_taxonomy Deinobacter Deinococcus radiodurans Class imported / merged by efoimporter Deinococcus radiidurans GC_ID:11 Micrococcus radiodurans NCBITaxon:1299 ncbi_taxonomy Micrococcus radiodurans Deinococcus radiidurans Streptococcus gordonii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1302 Streptococcus gordonii Kilian et al. 1989 ncbi_taxonomy Streptococcus gordonii Kilian et al. 1989 Streptococcus oralis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1303 ncbi_taxonomy Danaus plexippus American monarch Class imported / merged by efoimporter Danaus (Danaus) plexippus GC_ID:1 NCBITaxon:13037 monarch butterfly ncbi_taxonomy Danaus (Danaus) plexippus monarch butterfly American monarch Streptococcus sanguinis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1305 Streptococcus sanguis ncbi_taxonomy Streptococcus sanguis Streptococcus suis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1307 ncbi_taxonomy Streptococcus thermophilus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1308 Streptococcus salivarius subsp. thermophilus Streptococcus salivarius thermophilus ncbi_taxonomy Streptococcus salivarius thermophilus Streptococcus salivarius subsp. thermophilus Streptococcus mutans Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1309 Staphylococcus mutans ncbi_taxonomy Staphylococcus mutans Hypophthalmichthys molitrix Class imported / merged by efoimporter GC_ID:1 Hypophthalamichthys molitrix Leuciscus molitrix NCBITaxon:13095 ncbi_taxonomy silver carp Leuciscus molitrix Hypophthalamichthys molitrix silver carp Streptococcus agalactiae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1311 Streptoccocus de la mammite Streptococcus agalactiae contagiosae Streptococcus difficile Streptococcus difficilis Streptococcus mastitidis ncbi_taxonomy Streptococcus difficile Streptococcus mastitidis Streptococcus difficilis Streptoccocus de la mammite Streptococcus agalactiae contagiosae Streptococcus pneumoniae Class imported / merged by efoimporter Diplococcus pneumoniae GC_ID:11 Micrococcus pneumoniae NCBITaxon:1313 ncbi_taxonomy Diplococcus pneumoniae Micrococcus pneumoniae Streptococcus pyogenes Class imported / merged by efoimporter GC_ID:11 Micrococcus scarlatinae NCBITaxon:1314 Streptococcus erysipelatos Streptococcus hemolyticus Streptococcus pyrogenes Streptococcus scarlatinae ncbi_taxonomy Streptococcus pyrogenes Streptococcus hemolyticus Streptococcus erysipelatos Micrococcus scarlatinae Streptococcus scarlatinae Melopsittacus undulatus Class imported / merged by efoimporter GC_ID:1 Melopsittacus unduratus NCBITaxon:13146 budgerigar ncbi_taxonomy budgerigar Melopsittacus unduratus Myzus persicae Class imported / merged by efoimporter GC_ID:1 Myzus (Nectarosiphon) persicae Myzus persiceae NCBITaxon:13164 green peach aphid ncbi_taxonomy peach-potato aphid green peach aphid peach-potato aphid Myzus persiceae Myzus (Nectarosiphon) persicae Rhodococcus jostii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:132919 Rhodococcus sp. IFO16295 ncbi_taxonomy Rhodococcus sp. IFO16295 Amborella trichopoda Amborella trichopoda Baill. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:13333 ncbi_taxonomy Amborella trichopoda Baill. Streptococcus equi Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1336 ncbi_taxonomy Burkholderia mallei Acinetobacter mallei Actinobacillus mallei Bacillus mallei Class imported / merged by efoimporter GC_ID:11 Loefferella mallei Malleomyces mallei NCBITaxon:13373 Pfeifferella mallei Pseudomonas mallei ncbi_taxonomy Malleomyces mallei Loefferella mallei Actinobacillus mallei Acinetobacter mallei Pseudomonas mallei Bacillus mallei Pfeifferella mallei Cichorium intybus Cichorium intybus var. foliosum Class imported / merged by efoimporter Cychorium intybus GC_ID:1 NCBITaxon:13427 chicory ncbi_taxonomy radicchio succory witloof Cychorium intybus chicory succory Cichorium intybus var. foliosum radicchio witloof Coffea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:13442 coffee ncbi_taxonomy coffee Coffea arabica Class imported / merged by efoimporter Coffea arabica L. GC_ID:1 NCBITaxon:13443 arabica coffee coffee ncbi_taxonomy coffee Coffea arabica L. arabica coffee Ureaplasma parvum Class imported / merged by efoimporter GC_ID:4 NCBITaxon:134821 Ureaplasma urealyticum biovar 1 ncbi_taxonomy Ureaplasma urealyticum biovar 1 Dicentrarchus labrax Class imported / merged by efoimporter Dicentrarchus labrax (Linnaeus, 1758) European sea bass European seabass GC_ID:1 Labrax labrax Morone labrax NCBITaxon:13489 Perca labrax Perca labrax Linnaeus, 1758 Roccus labrax Sciaena labrax ncbi_taxonomy Perca labrax Sciaena labrax Roccus labrax Perca labrax Linnaeus, 1758 Morone labrax Dicentrarchus labrax (Linnaeus, 1758) Labrax labrax European sea bass European seabass Enterococcus faecalis Class imported / merged by efoimporter Enterococcus proteiformis Enterocoque GC_ID:11 Micrococcus ovalis Micrococcus zymogenes NCBITaxon:1351 Streptococcus faecalis Streptococcus glycerinaceus Streptococcus liquefaciens ncbi_taxonomy Enterococcus proteiformis Enterocoque Streptococcus faecalis Micrococcus zymogenes Micrococcus ovalis Streptococcus glycerinaceus Streptococcus liquefaciens Enterococcus faecium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1352 Streptococcus faecium ncbi_taxonomy Streptococcus faecium Enterococcus hirae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1354 ncbi_taxonomy Lactococcus lactis Bacterium lacti Class imported / merged by efoimporter GC_ID:11 Lactococcus lactis (Lohnis) Schleifer et al. 1986 NCBITaxon:1358 Streptococcus lactis ncbi_taxonomy Lactococcus lactis (Lohnis) Schleifer et al. 1986 Streptococcus lactis Bacterium lacti Lactococcus lactis subsp. cremoris Class imported / merged by efoimporter GC_ID:11 Lactobacillus cremoris Lactococcus cremoris Lactococcus lactis (SUBSP. CREMORIS) Lactococcus lactis cremoris NCBITaxon:1359 Streptococcus cremoris Streptococcus hollandicus Streptococcus lactis B Streptococcus lactis subsp. cremoris ncbi_taxonomy Streptococcus cremoris Lactobacillus cremoris Streptococcus lactis subsp. cremoris Lactococcus cremoris Streptococcus hollandicus Lactococcus lactis (SUBSP. CREMORIS) Streptococcus lactis B Lactococcus lactis cremoris Lactococcus lactis subsp. lactis Class imported / merged by efoimporter GC_ID:11 Lactobacillus xylosus Lactococcus lactis (SUBSP. LACTIS) Lactococcus lactis lactis NCBITaxon:1360 Streptococcus diacetilactis Streptococcus lactis subsp. diacetilactis Streptococcus lactis subsp. lactis ncbi_taxonomy Lactococcus lactis lactis Streptococcus lactis subsp. diacetilactis Streptococcus diacetilactis Streptococcus lactis subsp. lactis Lactococcus lactis (SUBSP. LACTIS) Lactobacillus xylosus Monodelphis domestica Class imported / merged by efoimporter GC_ID:1 Monodelphis domesticus NCBITaxon:13616 gray short-tailed opossum ncbi_taxonomy Monodelphis domesticus gray short-tailed opossum Curcuma longa Class imported / merged by efoimporter Curcuma domestica Curcuma domestica Valeton Curcuma longa L. GC_ID:1 NCBITaxon:136217 ncbi_taxonomy turmeric turmeric Curcuma domestica Curcuma domestica Valeton Curcuma longa L. Lactococcus garvieae Class imported / merged by efoimporter Enterococcus seriolicida GC_ID:11 Lactococcus garviae NCBITaxon:1363 Streptococcus garvieae ncbi_taxonomy Lactococcus garviae Streptococcus garvieae Enterococcus seriolicida Polysphondylium pallidum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:13642 ncbi_taxonomy Solenopsis invicta Class imported / merged by efoimporter GC_ID:1 NCBITaxon:13686 imported red fire ant ncbi_taxonomy red fire ant red imported fire ant imported red fire ant red imported fire ant red fire ant Sphingomonas paucimobilis Bacillus devorans Chromobacterium devorans Class imported / merged by efoimporter Flavobacterium devorans GC_ID:11 NCBITaxon:13689 Pseudomonas paucimobilis ncbi_taxonomy Bacillus devorans Pseudomonas paucimobilis Flavobacterium devorans Chromobacterium devorans Hypomesus transpacificus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:137520 delta smelt ncbi_taxonomy delta smelt Pyrobaculum aerophilum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:13773 ncbi_taxonomy Marsilea quadrifolia Class imported / merged by efoimporter European water clover GC_ID:1 Marsilea quadrifolia L. NCBITaxon:13816 ncbi_taxonomy European water clover Marsilea quadrifolia L. Borrelia burgdorferi Borrelia burdorferi Borrelia burgdorferi sensu stricto Borrelia burgdorffragment Class imported / merged by efoimporter GC_ID:11 Lyme disease spirochete NCBITaxon:139 ncbi_taxonomy Borrelia burgdorferi sensu stricto Lyme disease spirochete Borrelia burgdorffragment Borrelia burdorferi Bacillus amyloliquefaciens Bacillus amyloliquifaciens Bacillus velesensis Bacillus velezensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1390 ncbi_taxonomy Bacillus velezensis Bacillus velesensis Bacillus amyloliquifaciens Bacillus anthracis Bacillus cereus var. anthracis Bacteridium anthracis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1392 anthrax anthrax bacterium ncbi_taxonomy Bacillus cereus var. anthracis anthrax bacterium Bacteridium anthracis anthrax Bacillus cereus Bacillus endorhythmos Bacillus medusa Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1396 ncbi_taxonomy Bacillus medusa Bacillus endorhythmos Teleopsis dalmanni Class imported / merged by efoimporter Cyrtodiopsis dalmanii Cyrtodiopsis dalmanni Cyrtodiopsis dalmanni (Wiedemann, 1830) Diopsis dalmanni Diopsis dalmanni Wiedemann, 1830 GC_ID:1 NCBITaxon:139649 Teleopsis dalmanni (Wiedemann, 1830) ncbi_taxonomy Cyrtodiopsis dalmanii Diopsis dalmanni Teleopsis dalmanni (Wiedemann, 1830) Cyrtodiopsis dalmanni Diopsis dalmanni Wiedemann, 1830 Cyrtodiopsis dalmanni (Wiedemann, 1830) Teleopsis quinqueguttata Class imported / merged by efoimporter Cyrtodiopsis quinqueguttata GC_ID:1 NCBITaxon:139650 ncbi_taxonomy Cyrtodiopsis quinqueguttata Teleopsis whitei Class imported / merged by efoimporter Cyrtodiopsis whitei GC_ID:1 NCBITaxon:139651 ncbi_taxonomy Cyrtodiopsis whitei Cervus elaphus hispanicus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:141655 ncbi_taxonomy Oscheius tipulae Bacillus subtilis Bacillus globigii Bacillus natto Bacillus subtilis8 Bacillus uniflagellatus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1423 Vibrio subtilis ncbi_taxonomy Bacillus globigii Vibrio subtilis Bacillus subtilis8 Bacillus uniflagellatus Bacillus natto Bacillus thuringiensis Bacillus cereus var. thuringiensis Bacillus thuringiensi Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1428 ncbi_taxonomy Bacillus thuringiensi Bacillus cereus var. thuringiensis Maylandia Class imported / merged by efoimporter GC_ID:1 Metriaclima NCBITaxon:143623 ncbi_taxonomy Metriaclima Ophrys fusca Class imported / merged by efoimporter GC_ID:1 NCBITaxon:145942 Ophrys fusca Link ncbi_taxonomy Ophrys fusca Link Watermelon mosaic virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:146500 WMV2 Watermelon mosaic virus 2 Watermelon mosaic virus ii ncbi_taxonomy watermelon mosaic virus 2, WMV2 WMV2 watermelon mosaic virus 2, WMV2 Watermelon mosaic virus ii Watermelon mosaic virus 2 Streptomyces reticuliscabiei Class imported / merged by efoimporter GC_ID:11 NCBITaxon:146821 ncbi_taxonomy Staphylococcus saprophyticus subsp. saprophyticus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:147452 ncbi_taxonomy Magnaporthe grisea Class imported / merged by efoimporter GC_ID:1 Magnaportha grisea Magnaporthe grisea (T.T. Hebert) M.E. Barr NCBITaxon:148305 Pyricularia grisea Pyricularia grisea (Cooke) Sacc. ncbi_taxonomy Pyricularia grisea Magnaportha grisea Magnaporthe grisea (T.T. Hebert) M.E. Barr Pyricularia grisea (Cooke) Sacc. Clostridium acetobutylicum Class imported / merged by efoimporter Clostridium acetobutyricum Clostridium acetonobutylicum GC_ID:11 Granulobacter pectinovorum NCBITaxon:1488 ncbi_taxonomy Granulobacter pectinovorum Clostridium acetobutyricum Clostridium acetonobutylicum Clostridium botulinum Bacillus botulinus Bacillus putrificus Botulobacillus botulinus Class imported / merged by efoimporter Clostridium botulinum (van Ermengem 1896) Bergey et al. 1923 Clostridium putrificum Clostridium putrificum (Trevisan 1889) Reddish and Rettger 1922 (Approved Lists 1980) Ermengemillus botulinus GC_ID:11 NCBITaxon:1491 Pacinia putrifica ncbi_taxonomy Botulobacillus botulinus NCBITaxonRef:van_Ermengem_1896_Orla-Jensen_1909 NCBITaxonRef:Trevisan_1889 Pacinia putrifica Clostridium putrificum Clostridium putrificum (Trevisan 1889) Reddish and Rettger 1922 (Approved Lists 1980) Bacillus putrificus Clostridium botulinum (van Ermengem 1896) Bergey et al. 1923 Bacillus putrificus NCBITaxonRef:Trevisan_1889_Bienstock_1899 Pacinia putrifica Botulobacillus botulinus Ermengemillus botulinus Bacillus botulinus NCBITaxonRef:van_Ermengem_1896 Ermengemillus botulinus NCBITaxonRef:van_Ermengem_1896_Heller_1922 Bacillus botulinus Clostridium butyricum Amylobacter navicula Bacillus amylobacter Bacillus butyricus Bacillus navicula Bacterium navicula Class imported / merged by efoimporter Clostridium naviculum Clostridium pseudotetanicum GC_ID:11 Metallacter amylobacter NCBITaxon:1492 ncbi_taxonomy Amylobacter navicula Metallacter amylobacter Clostridium naviculum Bacillus butyricus Bacterium navicula Bacillus amylobacter Clostridium pseudotetanicum Bacillus navicula Salmonella enterica subsp. enterica serovar Enteritidis Bacillus enteritidis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:149539 Salmonella enterica serovar Enteritidis Salmonella enteritidis ncbi_taxonomy Bacillus enteritidis Salmonella enteritidis Salmonella enterica serovar Enteritidis Clostridium difficile Bacillus difficilis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1496 [Clostridium] difficile ncbi_taxonomy Bacillus difficilis [Clostridium] difficile Clostridium perfringens 'Clostridium plagarum' Bacillus perfringens Bacterium welchii Class imported / merged by efoimporter Clostridium plagarum GC_ID:11 NCBITaxon:1502 ncbi_taxonomy Clostridium plagarum 'Clostridium plagarum' Bacillus perfringens Bacterium welchii Clostridium sporogenes Bacillus sporogenes var. A Class imported / merged by efoimporter Clostridium sporogenes Clostridium sporogenes (Metchnikoff 1908) Bergey et al. 1923 Clostridium sporogenes var. A GC_ID:11 Metchnikovillus sporogenes NCBITaxon:1509 ncbi_taxonomy Clostridium sporogenes NCBITaxonRef:Heller_1922_Bergey_et_al._1923 Metchnikovillus sporogenes Clostridium sporogenes var. A NCBITaxonRef:Metchnikoff_1908_Prevot_1938 Clostridium sporogenes var. A Clostridium sporogenes (Metchnikoff 1908) Bergey et al. 1923 Bacillus sporogenes var. A NCBITaxonRef:Metchnikoff_1908 Metchnikovillus sporogenes NCBITaxonRef:sic_Heller_1922 Bacillus sporogenes var. A Clostridium tetani Bacillus tetani Class imported / merged by efoimporter Clostridium tetani (Flugge 1886) Bergey et al. 1923 GC_ID:11 NCBITaxon:1513 ncbi_taxonomy Bacillus tetani Bacillus tetani NCBITaxonRef:Flugge_1886 Clostridium tetani (Flugge 1886) Bergey et al. 1923 Clostridium beijerinckii Class imported / merged by efoimporter Clostridium beijerinckii Donker 1926 (Approved Lists 1980) emend. Keis et al. 2001 Clostridium rubrum GC_ID:11 NCBITaxon:1520 ncbi_taxonomy Clostridium beijerinckii Donker 1926 (Approved Lists 1980) emend. Keis et al. 2001 Clostridium rubrum NCBITaxonRef:Ng_and_Vaughn_1963 Clostridium rubrum Lactobacillus parabuchneri Class imported / merged by efoimporter GC_ID:11 Lactobacillus ferintoshensis Lactobacillus ferintoshensis Simpson et al. 2002 Lactobacillus parabuchneri Farrow et al. 1989 NCBITaxon:152331 ncbi_taxonomy Lactobacillus parabuchneri Farrow et al. 1989 Lactobacillus ferintoshensis Lactobacillus ferintoshensis Simpson et al. 2002 Burkholderia ambifaria Burkholderia ambifaria Coenye et al. 2001 Burkholderia cepacia (Palleroni and Holmes 1981) Yabuuchi et al. 1993 genomovar VII Burkholderia cepacia complex genomovar VII Class imported / merged by efoimporter GC_ID:11 NCBITaxon:152480 ncbi_taxonomy Burkholderia cepacia complex genomovar VII Burkholderia cepacia (Palleroni and Holmes 1981) Yabuuchi et al. 1993 genomovar VII Burkholderia ambifaria Coenye et al. 2001 Clostridium kluyveri Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1534 ncbi_taxonomy Moniliophthora perniciosa Class imported / merged by efoimporter Crinipellis perniciosa GC_ID:1 Marasmius perniciosus NCBITaxon:153609 ncbi_taxonomy Crinipellis perniciosa Marasmius perniciosus Brachypodium distachyon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:15368 ncbi_taxonomy Bromus inermis Bromopsis inermis Bromopsis inermis (Leyss.) Holub Bromus inermis Leyss. Class imported / merged by efoimporter GC_ID:1 Hungarian brome grass NCBITaxon:15371 awnless brome grass ncbi_taxonomy smooth brome grass Hungarian brome grass smooth brome grass awnless brome grass Bromopsis inermis Bromus inermis Leyss. Bromopsis inermis (Leyss.) Holub uncultured sulfate-reducing bacterium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:153939 ncbi_taxonomy uncultured sulphate-reducing bacterium uncultured sulphate-reducing bacterium Escherichia coli O157:H7 str. EDL933 Class imported / merged by efoimporter Escherichia coli 0157:H7 EDL933 Escherichia coli O157:H7 EDL933 Escherichia coli O157:H7 strain EDL933 GC_ID:11 NCBITaxon:155864 ncbi_taxonomy Escherichia coli 0157:H7 EDL933 Escherichia coli O157:H7 EDL933 Escherichia coli O157:H7 strain EDL933 Caulobacter vibrioides Caulobacter crescens Caulobacter crescentus Caulobacter crescentus Poindexter 1964 Caulobacter vibrioides Henrici and Johnson 1935 Caulobacter vibroides Class imported / merged by efoimporter GC_ID:11 NCBITaxon:155892 ncbi_taxonomy Caulobacter vibrioides Henrici and Johnson 1935 Caulobacter crescentus Poindexter 1964 Caulobacter crescentus Caulobacter vibroides Caulobacter crescens uncultured organism Class imported / merged by efoimporter GC_ID:11 NCBITaxon:155900 ncbi_taxonomy Clostridium baratii Acuformis perennis Class imported / merged by efoimporter Clostridium barati Clostridium baratii corrig. (Prevot 1938) Holdeman and Moore 1970 Clostridium paraperfringens Clostridium paraperfringens Nakamura et al. 1970 (Approved Lists 1980) Clostridium perenne Clostridium perenne (Prevot 1940) McClung and McCoy 1957 (Approved Lists 1980) GC_ID:11 Inflabilis barati NCBITaxon:1561 ncbi_taxonomy Clostridium barati Clostridium baratii corrig. (Prevot 1938) Holdeman and Moore 1970 Acuformis perennis NCBITaxonRef:Prevot_1940 Inflabilis barati Clostridium perenne (Prevot 1940) McClung and McCoy 1957 (Approved Lists 1980) Clostridium perenne Acuformis perennis Clostridium paraperfringens Clostridium paraperfringens Nakamura et al. 1970 (Approved Lists 1980) Inflabilis barati NCBITaxonRef:sic_Prevot_1938 Karenia brevis Class imported / merged by efoimporter GC_ID:1 Gymnodinium breve Karena brevis NCBITaxon:156230 ncbi_taxonomy Karena brevis Gymnodinium breve Lilium hybrid division I Class imported / merged by efoimporter GC_ID:1 NCBITaxon:156532 ncbi_taxonomy Lactobacillus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1578 ncbi_taxonomy Lactobacillus acidophilus Bacillus acidophilus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1579 Thermobacterium intestinale ncbi_taxonomy Bacillus acidophilus Thermobacterium intestinale Treponema denticola Class imported / merged by efoimporter GC_ID:11 NCBITaxon:158 Spirillum dentium Spirochaeta ambigua Spirochaeta comandonii Spirochaeta dentium Spirochaeta microdentium Spirochaeta orthodonta Spirochaete denticola Spirochaete dentium Spironema dentium Treponema ambiguum Treponema comandonii Treponema dentium Treponema dentium-stenogyratum Treponema microdentium Treponema orthodontum ncbi_taxonomy Treponema dentium Spirochaeta comandonii Spirochaete denticola Treponema orthodontum Spirochaeta orthodonta Spirochaeta ambigua Spirillum dentium Spirochaete dentium Spironema dentium Treponema ambiguum Treponema dentium-stenogyratum Spirochaeta microdentium Treponema microdentium Spirochaeta dentium Treponema comandonii Lactobacillus brevis Bacillus casei g Bacillus g Betabacterium breve Class imported / merged by efoimporter GC_ID:11 Lactobacterium breve NCBITaxon:1580 ncbi_taxonomy Bacillus g Bacillus casei g Lactobacterium breve Betabacterium breve Lactobacillus buchneri Bacillus Buchneri Bacterium buchneri Class imported / merged by efoimporter GC_ID:11 Lactobacterium buchneri NCBITaxon:1581 Ulvina buchneri ncbi_taxonomy Bacillus Buchneri Ulvina buchneri Lactobacterium buchneri Bacterium buchneri Saccharum sp. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:15819 ncbi_taxonomy Lactobacillus casei Bacillus a Bacillus casei a Bacterium casei a Caseobacterium vulgare Class imported / merged by efoimporter GC_ID:11 Lactobacillus casei casei Lactobacillus casei subsp. casei NCBITaxon:1582 Streptobacterium casei ncbi_taxonomy Bacillus casei a Bacterium casei a Bacillus a Lactobacillus casei casei Lactobacillus casei subsp. casei Caseobacterium vulgare Streptobacterium casei Weissella confusa Class imported / merged by efoimporter GC_ID:11 Lactobacillus confusa (sic) Lactobacillus confusus Lactobacillus coprophilus subsp. confusus NCBITaxon:1583 ncbi_taxonomy Lactobacillus confusa (sic) Lactobacillus coprophilus subsp. confusus Lactobacillus confusus Lactobacillus delbrueckii Bacillus Delbrucki Bacillus acidificans longissimus Bacterium delbrucki Class imported / merged by efoimporter GC_ID:11 Lactobacillus delbrucki Lactobacillus delbrueckii (Leichmann 1896) Beijerinck 1901 Lactobacillus delbrueckii Beijerinck 1901 Lactobacillus delbruekii Lactobacterium delbrucki NCBITaxon:1584 Plocamobacterium delbrucki Thermobacterium cereale Ulvina delbrucki ncbi_taxonomy NCBITaxonRef:sic_Leichmann_1896_Pribram_1933 Ulvina delbrucki Ulvina delbrucki Lactobacillus delbruekii Lactobacterium delbrucki NCBITaxonRef:sic_Leichmann_1896_van_Steenberge_1920 Bacillus Delbrucki NCBITaxonRef:sic_Leichmann_1896 Plocamobacterium delbrucki Bacillus acidificans longissimus Lactobacillus delbrucki NCBITaxonRef:sic_Leichmann_1896_Beijerinck_1901 Thermobacterium cereale Lactobacillus delbrueckii (Leichmann 1896) Beijerinck 1901 Lactobacillus delbrueckii Beijerinck 1901 Lactobacillus delbrucki Lactobacterium delbrucki Bacterium delbrucki NCBITaxonRef:sic_Leichmann_1896_Migula_1900 NCBITaxonRef:Orla-Jensen_1919 Thermobacterium cereale Bacillus acidificans longissimus NCBITaxonRef:Lafar_1896 Bacillus Delbrucki Bacterium delbrucki NCBITaxonRef:sic_Leichmann_1896_Pribram_1933 Plocamobacterium delbrucki Folsomia candida Class imported / merged by efoimporter GC_ID:1 NCBITaxon:158441 ncbi_taxonomy Lactobacillus delbrueckii subsp. bulgaricus Class imported / merged by efoimporter GC_ID:11 Lactobacillus bulgaricus Lactobacillus delbrueckii (SUBSP. BULGARICUS) Lactobacillus delbrueckii bulgaricus NCBITaxon:1585 Thermobacterium bulgaricum ncbi_taxonomy Lactobacillus delbrueckii bulgaricus Lactobacillus delbrueckii (SUBSP. BULGARICUS) Thermobacterium bulgaricum Lactobacillus bulgaricus Aristolochia fimbriata Aristolochia fimbriata Cham. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:158543 ncbi_taxonomy Aristolochia fimbriata Cham. Lactobacillus helveticus Bacillus casei e Bacillus e Caseobacterium e Class imported / merged by efoimporter GC_ID:11 Lactobacillus helveticum Lactobacillus suntoryeus Lactobacterium helveticum NCBITaxon:1587 Plocamobacterium helveticum Thermobacterium helveticum ncbi_taxonomy Thermobacterium helveticum Lactobacillus suntoryeus Bacillus e Lactobacterium helveticum Lactobacillus helveticum Caseobacterium e Plocamobacterium helveticum Bacillus casei e Lactobacillus hilgardii Class imported / merged by efoimporter GC_ID:11 Lactobacillus Type II Lactobacillus hilgardii Douglas and Cruess 1936 NCBITaxon:1588 ncbi_taxonomy Lactobacillus hilgardii Douglas and Cruess 1936 Lactobacillus Type II NCBITaxonRef:Fornachon_1943 Lactobacillus Type II Staphylococcus aureus subsp. aureus Mu50 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:158878 Staphylococcus aureus (strain Mu50 / ATCC 700699) ncbi_taxonomy Staphylococcus aureus (strain Mu50 / ATCC 700699) Staphylococcus aureus subsp. aureus N315 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:158879 Staphylococcus aureus (strain N315) ncbi_taxonomy Staphylococcus aureus (strain N315) Collimonas fungivorans Class imported / merged by efoimporter Collimonas Ter266 Collimonas group B Collimonas group C GC_ID:11 NCBITaxon:158899 ncbi_taxonomy Collimonas group C Collimonas group B Collimonas Ter266 Lactobacillus pentosus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1589 ncbi_taxonomy Lactobacillus plantarum Class imported / merged by efoimporter GC_ID:11 Lactobacillus arabinosus Lactobacillus arizonae Lactobacillus arizonensis Lactobacillus plantari Lactobacterium plantarum NCBITaxon:1590 Streptobacterium plantarum ncbi_taxonomy Lactobacillus arizonensis Lactobacterium plantarum Streptobacterium plantarum Lactobacillus arabinosus Lactobacillus arizonae Lactobacillus plantari Lactobacillus gasseri Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1596 ncbi_taxonomy Lactobacillus paracasei Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1597 ncbi_taxonomy Lactobacillus reuteri Class imported / merged by efoimporter GC_ID:11 Lactobacilllus reuteri Lactobacillus fermentum biotype II Lactobacillus fermentum subsp. reuteri NCBITaxon:1598 ncbi_taxonomy Lactobacillus fermentum subsp. reuteri Lactobacilllus reuteri Lactobacillus fermentum biotype II Lactobacillus sakei Class imported / merged by efoimporter GC_ID:11 Lactobacillus bavaricus Lactobacillus bavaricus Stetter and Stetter 1980 Lactobacillus sake Lactobacillus sakei corrig. Katagiri et al. 1934 (Approved Lists 1980) emend. Klein et al. 1996 NCBITaxon:1599 ncbi_taxonomy Lactobacillus bavaricus Stetter and Stetter 1980 Lactobacillus bavaricus Lactobacillus sake Lactobacillus sakei corrig. Katagiri et al. 1934 (Approved Lists 1980) emend. Klein et al. 1996 Treponema pallidum Class imported / merged by efoimporter GC_ID:11 Microspironema pallidum NCBITaxon:160 Spirillum pallidum Spirochaeta pallida Spironema pallidum ncbi_taxonomy Spirillum pallidum Microspironema pallidum Spirochaeta pallida Spironema pallidum Lactobacillus alimentarius Class imported / merged by efoimporter GC_ID:11 Lactobacillus alimentarius (ex Reuter 1970) Reuter 1983 NCBITaxon:1602 ncbi_taxonomy Lactobacillus alimentarius (ex Reuter 1970) Reuter 1983 Lactobacillus amylovorus Class imported / merged by efoimporter GC_ID:11 Lactobacillus acidophilus group A3 Lactobacillus amylovorous Lactobacillus sobrius NCBITaxon:1604 ncbi_taxonomy Lactobacillus acidophilus group A3 Lactobacillus amylovorous Lactobacillus sobrius Pseudomonas putida KT2440 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:160488 Pseudomonas putida (strain KT2440) Pseudomonas putida str. KT2440 ncbi_taxonomy Pseudomonas putida str. KT2440 Pseudomonas putida (strain KT2440) Xylella fastidiosa 9a5c Class imported / merged by efoimporter GC_ID:11 NCBITaxon:160492 ncbi_taxonomy Agrobacterium larrymoorei Class imported / merged by efoimporter GC_ID:11 NCBITaxon:160699 Rhizobium larrymoorei ncbi_taxonomy Rhizobium larrymoorei Lactobacillus farciminis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1612 ncbi_taxonomy Lactobacillus fermentum Bacillus casei d Bacillus d Class imported / merged by efoimporter GC_ID:11 Lactobacillus cellobiosus Lactobacillus fermenti Lactobacterium fermentum NCBITaxon:1613 ncbi_taxonomy Lactobacillus fermenti Bacillus d Lactobacillus cellobiosus Bacillus casei d Lactobacterium fermentum Lactobacillus fructivorans Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1614 ncbi_taxonomy Lactobacillus salivarius Class imported / merged by efoimporter GC_ID:11 Lactobacillus salivarus NCBITaxon:1624 ncbi_taxonomy Lactobacillus salivarus Emericella nidulans A. nidulans Aspergillus nidulans Aspergillus nidulellus Aspergilus nidulans Class imported / merged by efoimporter GC_ID:1 NCBITaxon:162425 ncbi_taxonomy A. nidulans Aspergillus nidulans Aspergillus nidulellus Aspergilus nidulans Lactobacillus sanfranciscensis Class imported / merged by efoimporter GC_ID:11 Lactobacillus sanfrancisco NCBITaxon:1625 ncbi_taxonomy Lactobacillus sanfrancisco Listeria monocytogenes Bacterium monocytogenes Bacterium monocytogenes hominis Class imported / merged by efoimporter Corynebacterium infantisepticum Corynebacterium parvulum Erysipelothrix monocytogenes GC_ID:11 Listerella hepatolytica Lysteria monocytogenes NCBITaxon:1639 ncbi_taxonomy Erysipelothrix monocytogenes Listerella hepatolytica Lysteria monocytogenes Bacterium monocytogenes hominis Corynebacterium infantisepticum Bacterium monocytogenes Corynebacterium parvulum Nicotiana langsdorffii x Nicotiana sanderae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:164110 ncbi_taxonomy Listeria innocua Class imported / merged by efoimporter GC_ID:11 Listeria innocua Seeliger 1983 NCBITaxon:1642 ncbi_taxonomy Listeria innocua Seeliger 1983 Crocosphaera watsonii WH 8501 Class imported / merged by efoimporter Crocosphaera watsonii WH8501 GC_ID:11 NCBITaxon:165597 Synechocystis sp. WH 8501 Synechocystis sp. WH8501 ncbi_taxonomy Synechocystis sp. WH8501 Synechocystis sp. WH 8501 Crocosphaera watsonii WH8501 Onthophagus taurus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:166361 ncbi_taxonomy Lactobacillus mindensis Class imported / merged by efoimporter GC_ID:11 Lactobacillus mindensis Ehrmann et al. 2003 NCBITaxon:167481 ncbi_taxonomy Lactobacillus mindensis Ehrmann et al. 2003 Prochlorococcus marinus str. MIT 9515 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:167542 ncbi_taxonomy Bifidobacterium Bifidibacterium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1678 Tissieria ncbi_taxonomy Tissieria Bifidibacterium Bifidobacterium bifidum Actinobacterium bifidum Actinomyces bifidus Actinomyces parabifidus Bacillus bifidus Bacillus bifidus communis Bacterium bifidum Bacteroides bifidus Bifidibacterium bifidum Class imported / merged by efoimporter Cohnistreptothrix bifidus GC_ID:11 Lactobacillus bifidus type II Lactobacillus parabifidus NCBITaxon:1681 Nocardia bifida Tissieria bifida ncbi_taxonomy Bacillus bifidus Actinomyces parabifidus Bacillus bifidus communis Actinomyces bifidus Cohnistreptothrix bifidus Actinobacterium bifidum Bacteroides bifidus Bacterium bifidum Lactobacillus bifidus type II Bifidibacterium bifidum Tissieria bifida Nocardia bifida Lactobacillus parabifidus Bifidobacterium breve Bifidobacterium parvulorum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1685 ncbi_taxonomy Bifidobacterium parvulorum Fusarium solani Class imported / merged by efoimporter Fusarium solan GC_ID:1 NCBITaxon:169388 ncbi_taxonomy Fusarium solan Listeria monocytogenes EGD-e Class imported / merged by efoimporter GC_ID:11 Listeria monocytogenes ATCC BAA-679 Listeria monocytogenes EGDe Listeria monocytogenes str. EGD-e Listeria monocytogenes strain EGD-e NCBITaxon:169963 ncbi_taxonomy Listeria monocytogenes EGDe Listeria monocytogenes ATCC BAA-679 Listeria monocytogenes str. EGD-e Listeria monocytogenes strain EGD-e Streptococcus pneumoniae TIGR4 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:170187 ncbi_taxonomy Brevibacterium linens Bacterium linens Brevibacterium linens (Wolff 1910) Breed 1953 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1703 ncbi_taxonomy Bacterium linens NCBITaxonRef:Wolff_1910 Brevibacterium linens (Wolff 1910) Breed 1953 Bacterium linens Streptococcus pneumoniae R6 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:171101 Streptococcus pneumoniae (strain ATCC BAA-255 / R6) Streptococcus pneumoniae str. R6 ncbi_taxonomy Streptococcus pneumoniae (strain ATCC BAA-255 / R6) Streptococcus pneumoniae str. R6 Corynebacterium diphtheriae Bacillus diphtheriae Bacterium diphtheriae Class imported / merged by efoimporter GC_ID:11 Microsporon diphthericum Microsporon diphtheriticum Mycobacterium diphtheriae NCBITaxon:1717 Pacinia loeffleri ncbi_taxonomy Bacterium diphtheriae Bacillus diphtheriae Pacinia loeffleri Microsporon diphthericum Mycobacterium diphtheriae Microsporon diphtheriticum Corynebacterium glutamicum 'Brevibacterium lactofermentum' 'Corynebacterium lactofermentum' Brevibacterium chang-fua Brevibacterium divaricatum Brevibacterium divaricatum Su and Yamada 1960 (Approved Lists 1980) Brevibacterium glutamigenes Brevibacterium lactofermentum Brevibacterium saccharolyticum Brevibacterium seonmiso Brevibacterium taipei Brevibacterium thiogenitalis Class imported / merged by efoimporter Cornyebacterium lactofermentum Corymebacterium glutamicum Corynebacterium glutamicum (Kinoshita et al. 1958) Abe et al. 1967 Corynebacterium lactofermentum Corynebacterium lilium Corynebacterium lilium Lee and Good 1963 (Approved Lists 1980) GC_ID:11 Micrococcus glutamicus Micrococcus maripuniceus NCBITaxon:1718 ncbi_taxonomy Brevibacterium divaricatum Brevibacterium saccharolyticum Corynebacterium lilium Lee and Good 1963 (Approved Lists 1980) Brevibacterium glutamigenes Brevibacterium lactofermentum Corynebacterium glutamicum (Kinoshita et al. 1958) Abe et al. 1967 'Corynebacterium lactofermentum' Brevibacterium thiogenitalis Cornyebacterium lactofermentum Brevibacterium seonmiso Corymebacterium glutamicum Brevibacterium taipei Micrococcus glutamicus NCBITaxonRef:Kinoshita_et_al._1958 'Brevibacterium lactofermentum' Corynebacterium lilium Corynebacterium lactofermentum Micrococcus glutamicus Micrococcus maripuniceus Brevibacterium divaricatum Su and Yamada 1960 (Approved Lists 1980) Brevibacterium chang-fua uncultured Acidobacteria bacterium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:171953 Uncultured acidobacterium ncbi_taxonomy uncultured Acidobacteria uncultured Acidobacterium group bacterium uncultured Acidobacterium group bacterium Uncultured acidobacterium uncultured Acidobacteria Vitis sp. cv. 'Norton' Class imported / merged by efoimporter GC_ID:1 NCBITaxon:171960 ncbi_taxonomy Chlamydotis undulata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:172680 ncbi_taxonomy Solanum phureja Class imported / merged by efoimporter GC_ID:1 NCBITaxon:172790 Solanum phureja Juz. & Bukasov chaucha ncbi_taxonomy phureja Solanum phureja Juz. & Bukasov phureja chaucha Leptospira interrogans Class imported / merged by efoimporter GC_ID:11 Leptospira icteroides NCBITaxon:173 Spirochaeta biflexa Spirochaeta icterogenes Spirochaeta icterohaemorrhagiae Spirochaeta interrogans Spirochaeta nodosa ncbi_taxonomy Spirochaeta nodosa Spirochaeta icterogenes Spirochaeta icterohaemorrhagiae Spirochaeta biflexa Spirochaeta interrogans Leptospira icteroides Wyeomyia smithii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:174621 Wyeomia smithii ncbi_taxonomy pitcher-plant mosquito pitcher-plant mosquito Wyeomia smithii Candidatus Kuenenia stuttgartiensis Class imported / merged by efoimporter GC_ID:11 Kuenenia stuttgartiensis NCBITaxon:174633 ncbi_taxonomy Kuenenia stuttgartiensis Propionibacterium acnes Bacillus acnes Class imported / merged by efoimporter Corynebacterium acnes GC_ID:11 NCBITaxon:1747 Propionicibacterium acnes ncbi_taxonomy Propionicibacterium acnes Corynebacterium acnes Bacillus acnes Propionibacterium freudenreichii subsp. shermanii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1752 Propionibacterium freudenreichii shermanii Propionibacterium shermanii Propionicibacterium freudenreichii subsp. shermanii ncbi_taxonomy Propionibacterium freudenreichii shermanii Propionibacterium shermanii Propionicibacterium freudenreichii subsp. shermanii Agrobacterium tumefaciens str. C58 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:176299 ncbi_taxonomy Mycobacterium avium Bacillus tuberculosis gallinarum Class imported / merged by efoimporter GC_ID:11 Mycobacterium avium Chester 1901 (Approved Lists 1980) emend. Thorel et al. 1990 Mycobacterium tuberculosis avium Mycobacterium tuberculosis typus gallinaceus NCBITaxon:1764 Tuberculose des oiseaux ncbi_taxonomy NCBITaxonRef:Strauss_and_Gamaleia_1891 Tuberculose des oiseaux Mycobacterium tuberculosis avium NCBITaxonRef:Lehmann_and_Neumann_1896 Mycobacterium tuberculosis avium Mycobacterium avium Chester 1901 (Approved Lists 1980) emend. Thorel et al. 1990 Bacillus tuberculosis gallinarum NCBITaxonRef:Sternberg_1892 Mycobacterium tuberculosis typus gallinaceus NCBITaxonRef:Lehmann_and_Neumann_1907 Tuberculose des oiseaux Mycobacterium tuberculosis typus gallinaceus Bacillus tuberculosis gallinarum Mycobacterium bovis Class imported / merged by efoimporter GC_ID:11 Mycobacterium bovis Karlson and Lessel 1970 Mycobacterium tuberculosis typus bovinus Mycobacterium tuberculosis var. bovis NCBITaxon:1765 ncbi_taxonomy Mycobacterium bovis Karlson and Lessel 1970 Mycobacterium tuberculosis var. bovis Mycobacterium tuberculosis typus bovinus NCBITaxonRef:Lehmann_and_Neumann_1907 Mycobacterium tuberculosis var. bovis NCBITaxonRef:Bergey_et_al._1934 Mycobacterium tuberculosis typus bovinus Mycobacterium leprae Bacillus leprae Class imported / merged by efoimporter GC_ID:11 Mycoplasma leprae NCBITaxon:1769 ncbi_taxonomy Mycoplasma leprae Bacillus leprae Mycobacterium avium subsp. paratuberculosis Bacillus paratuberculosis Bacterium paratuberculosis Class imported / merged by efoimporter Darmtuberculose GC_ID:11 Mycobacterium avium paratuberculosis Mycobacterium enteritidis Mycobacterium johnei Mycobacterium paratuberculosis NCBITaxon:1770 ncbi_taxonomy Mycobacterium enteritidis Darmtuberculose Bacillus paratuberculosis Bacterium paratuberculosis Mycobacterium avium paratuberculosis Mycobacterium paratuberculosis Mycobacterium johnei Mycobacterium smegmatis Bacillus smegmatis Bacterium smegmatis Class imported / merged by efoimporter GC_ID:11 Mycobacterium paratuberculosis smegmatis NCBITaxon:1772 ncbi_taxonomy Bacterium smegmatis Bacillus smegmatis Mycobacterium paratuberculosis smegmatis Mycobacterium tuberculosis Bacillus tuberculosis Bacterium tuberculosis Class imported / merged by efoimporter GC_ID:11 Mycobacterium tuberculosis typus humanus Mycobacterium tuberculosis var. hominis NCBITaxon:1773 ncbi_taxonomy Mycobacterium tuberculosis var. hominis Bacillus tuberculosis Mycobacterium tuberculosis typus humanus Bacterium tuberculosis Francisella tularensis subsp. tularensis SCHU S4 Class imported / merged by efoimporter Francisella tularensis Biovar A str. SCHU S4 Francisella tularensis Biovar A str. Schu 4 Francisella tularensis subsp. tularensis Schu 4 Francisella tularensis subsp. tularensis str. SCHU S4 Francisella tularensis subsp. tularensis strain SCHU S4 GC_ID:11 NCBITaxon:177416 ncbi_taxonomy Francisella tularensis subsp. tularensis str. SCHU S4 Francisella tularensis Biovar A str. Schu 4 Francisella tularensis subsp. tularensis strain SCHU S4 Francisella tularensis Biovar A str. SCHU S4 Francisella tularensis subsp. tularensis Schu 4 Cryptococcus neoformans var. grubii Class imported / merged by efoimporter Cryptococcus neoformans A Cryptococcus neoformans serotype A Filobasidiella neoformans serotype A Filobasidiella neoformans var. grubii GC_ID:1 NCBITaxon:178876 ncbi_taxonomy Cryptococcus neoformans serotype A Filobasidiella neoformans var. grubii Filobasidiella neoformans serotype A Cryptococcus neoformans A Gerbera hybrid cultivar Class imported / merged by efoimporter GC_ID:1 Gerbera hybrida Gerbera hybrida cultivar Gerbera x sp. NCBITaxon:18101 ncbi_taxonomy Gerbera hybrida Gerbera x sp. Gerbera hybrida cultivar Lotus uliginosus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:181288 big trefoil ncbi_taxonomy big trefoil Xylella fastidiosa Temecula1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:183190 Pierce Xylella fastidiosa (strain Temecula1 / ATCC 700964) Xylella fastidiosa str. Temecula1 ncbi_taxonomy Xylella fastidiosa (strain Temecula1 / ATCC 700964) Xylella fastidiosa str. Temecula1 NCBITaxonRef:s_disease_strain' Pierce Saccharopolyspora erythraea Actinomyces erythreus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1836 Saccharopolyspora erythraea (Waksman 1923) Labeda 1987 Streptomyces erythraeus Streptomyces erythraeus (Waksman 1923) Waksman and Henrici 1948 (Approved Lists 1980) Streptomyces erythreus ncbi_taxonomy Streptomyces erythraeus (Waksman 1923) Waksman and Henrici 1948 (Approved Lists 1980) Streptomyces erythraeus NCBITaxonRef:sic_Waksman_1923,_Waksman_and_Henrici_1948 Streptomyces erythreus Actinomyces erythreus NCBITaxonRef:sic_Waksman_1923 Saccharopolyspora erythraea (Waksman 1923) Labeda 1987 Actinomyces erythreus Miscanthus x giganteus Class imported / merged by efoimporter GC_ID:1 Miscanthus giganteus Miscanthus sinensis x Miscanthus sacchariflorus Miscanthus x gigantheus J.M.Greef & Deuter 1993, nom. inval. NCBITaxon:183674 ncbi_taxonomy Miscanthus x gigantheus J.M.Greef & Deuter 1993, nom. inval. Miscanthus sinensis x Miscanthus sacchariflorus Miscanthus giganteus Methanobacteria Archaeobacteria Class imported / merged by efoimporter GC_ID:11 NCBITaxon:183925 ncbi_taxonomy Archaeobacteria Trypanosoma brucei TREU927 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:185431 Trypanosoma brucei strain TREU927 ncbi_taxonomy Trypanosoma brucei strain TREU927 Pyrococcus furiosus DSM 3638 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:186497 Pyrococcus furiosus DSM3638 Pyrococcus furiosus str. DSM 3638 Pyrococcus furiosus strain DSM 3638 ncbi_taxonomy Pyrococcus furiosus str. DSM 3638 Pyrococcus furiosus strain DSM 3638 Pyrococcus furiosus DSM3638 Zaire ebolavirus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:186538 ZEBOV Zaire Ebola virus ncbi_taxonomy ZEBOV Zaire Ebola virus Reston ebolavirus Class imported / merged by efoimporter Ebola virus Reston GC_ID:1 NCBITaxon:186539 REBOV Reston Ebola virus ncbi_taxonomy Ebola virus Reston Reston Ebola virus REBOV Sudan ebolavirus Class imported / merged by efoimporter Ebolavirus Sudan GC_ID:1 NCBITaxon:186540 SEBOV Sudan Ebola virus ncbi_taxonomy SEBOV Ebolavirus Sudan Sudan Ebola virus Clostridia Class imported / merged by efoimporter GC_ID:11 NCBITaxon:186801 ncbi_taxonomy Mus musculus x Mus spretus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:186842 ncbi_taxonomy Cryptopygus antarcticus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:187623 ncbi_taxonomy Enteromyxum leei Class imported / merged by efoimporter GC_ID:1 NCBITaxon:188704 ncbi_taxonomy Streptomyces antibioticus Actinomyces antibioticus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1890 Streptomyces antibioticus (Waksman and Woodruff 1941) Waksman and Henrici 1948 ncbi_taxonomy Actinomyces antibioticus Streptomyces antibioticus (Waksman and Woodruff 1941) Waksman and Henrici 1948 Actinomyces antibioticus NCBITaxonRef:Waksman_and_Woodruff_1941 Streptomyces aureofaciens Class imported / merged by efoimporter GC_ID:11 Kitasatospora aureofaciens NCBITaxon:1894 Streptomyces aureifaciens Streptomyces aureofaciens Duggar 1948 emend. Groth et al. 2003 ncbi_taxonomy Streptomyces aureifaciens Kitasatospora aureofaciens Streptomyces aureofaciens Duggar 1948 emend. Groth et al. 2003 Leptospira interrogans serovar Lai str. 56601 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:189518 ncbi_taxonomy Streptomyces bikiniensis Actinomyces bikiniensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1896 Streptomyces bikiniensis Johnstone and Waksman 1947 ncbi_taxonomy Streptomyces bikiniensis Johnstone and Waksman 1947 Actinomyces bikiniensis NCBITaxonRef:Johnstone_and_Waksman_1947_Krasil'nikov_1949 Actinomyces bikiniensis Streptomyces clavuligerus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1901 Streptomyces clavuligerus Higgens and Kastner 1971 ncbi_taxonomy Streptomyces clavuligerus Higgens and Kastner 1971 Streptomyces coelicolor Actinomyces coelicolor Cladothrix coelicolor Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1902 Nocardia coelicolor Streptococcus coelicolor Streptomyces calicolor Streptomyces coelicolor subspecies coelicolor Streptothrix coelicolor ncbi_taxonomy Cladothrix coelicolor Nocardia coelicolor Actinomyces coelicolor Streptothrix coelicolor Streptomyces calicolor Streptococcus coelicolor Streptomyces coelicolor subspecies coelicolor Xanthomonas axonopodis pv. citri str. 306 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:190486 ncbi_taxonomy Streptomyces exfoliatus Actinomyces exfoliatus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1905 Streptomyces exfoliatus (Waksman and Curtis 1916) Waksman and Henrici 1948 Streptomyces hydrogenans ncbi_taxonomy Streptomyces exfoliatus (Waksman and Curtis 1916) Waksman and Henrici 1948 Actinomyces exfoliatus Streptomyces hydrogenans Actinomyces exfoliatus NCBITaxonRef:Waksman_and_Curtis_1916 Streptomyces fradiae Actinomyces fradii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1906 Streptomyces fradiae (Waksman and Curtis 1916) Streptomyces fradiae (Waksman and Curtis 1916) Waksman and Henrici 1948 (Approved Lists 1980) emend. Streptomyces fradiae subsp. fradiae Streptomyces fradii Streptomyces roseiflavus Streptomyces roseoflavus Streptomyces roseoflavus Arai 1951 (Approved Lists 1980) ncbi_taxonomy Streptomyces roseoflavus Arai 1951 (Approved Lists 1980) Streptomyces fradiae (Waksman and Curtis 1916) Waksman and Henrici 1948 (Approved Lists 1980) emend. Streptomyces roseoflavus NCBITaxonRef:Waksman_and_Curtis_in_Pridham_et_al._1965 Streptomyces fradiae subsp. fradiae Streptomyces fradiae (Waksman and Curtis 1916) Actinomyces fradii NCBITaxonRef:sic_Waksman_and_Curtis_1916 Actinomyces fradii Streptomyces roseiflavus Streptomyces fradiae subsp. fradiae Streptomyces fradii NCBITaxonRef:sic_Waksman_and_Henrici_1948 Streptomyces fradii Caulobacter crescentus CB15 Caulobacter crescentus CB 15 Caulobacter crescentus str. CB15 Caulobacter crescentus strain CB15 Caulobacter vibrioides ATCC 19089 Caulobacter vibrioides CB15 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:190650 ncbi_taxonomy Caulobacter vibrioides CB15 Caulobacter crescentus strain CB15 Caulobacter vibrioides ATCC 19089 Caulobacter crescentus CB 15 Caulobacter crescentus str. CB15 Cleome gynandra African spider-flower Class imported / merged by efoimporter Cleome gynandra L. GC_ID:1 Gynandropsis gynandra Gynandropsis gynandra (L.) Briq. NCBITaxon:190802 acaya bastard-mustard cat's-whiskers mouzambi ncbi_taxonomy African spider-flower Gynandropsis gynandra cat's-whiskers acaya Gynandropsis gynandra (L.) Briq. bastard-mustard Cleome gynandra L. mouzambi Streptomyces griseus Actinomyces griseus Actinomyces setonii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1911 Streptomyces cavourensis subsp. washingtonensis Streptomyces setonii Streptomyces sp. WXC19-1 ncbi_taxonomy Streptomyces cavourensis subsp. washingtonensis Actinomyces griseus Streptomyces setonii Streptomyces sp. WXC19-1 Actinomyces setonii Rhodococcus aetherivorans Class imported / merged by efoimporter GC_ID:11 NCBITaxon:191292 Rhodococcus aetherovorans ncbi_taxonomy Rhodococcus aetherovorans Streptomyces lividans Actinomyces lividans Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1916 Streptomyces lividans ncbi_taxonomy Actinomyces lividans NCBITaxonRef:Krasil'nikov_et_al. Actinomyces lividans NCBITaxonRef:Krasil'nikov_et_al._Pridham Streptomyces lividans Streptomyces microflavus Actinomyces cretaceus Actinomyces lipmanii Actinomyces microflavus Actinomyces willmorei Class imported / merged by efoimporter GC_ID:11 Micromonospora microflava NCBITaxon:1919 Oospora cretacea Streptomyces cretaceus Streptomyces griseus subsp. alpha Streptomyces griseus subsp. alpha (Ciferri 1927) Pridham 1970 (Approved Lists 1980) Streptomyces griseus subsp. cretosus Streptomyces griseus subsp. cretosus Pridham 1970 (Approved Lists 1980) Streptomyces lipmanii Streptomyces lipmanii (Waksman and Curtis 1916) Waksman and Henrici 1948 Streptomyces microflavus (Krainsky 1914) Waksman and Henrici 1948 (Approved Lists 1980) emend. Lanoo Streptomyces willmorei Streptomyces willmorei (Erikson 1935) Waksman and Henrici 1948 (Approved Lists 1980) ncbi_taxonomy Streptomyces willmorei (Erikson 1935) Waksman and Henrici 1948 (Approved Lists 1980) Oospora cretacea Micromonospora microflava NCBITaxonRef:Krainsky_1914_Duche_1934 Streptomyces griseus subsp. cretosus Actinomyces willmorei Actinomyces microflavus Streptomyces microflavus (Krainsky 1914) Waksman and Henrici 1948 (Approved Lists 1980) emend. Lanoo Streptomyces lipmanii Micromonospora microflava Streptomyces griseus subsp. cretosus Pridham 1970 (Approved Lists 1980) Actinomyces cretaceus NCBITaxonRef:Kruger_1905_Krasil'nikov_1941 Streptomyces griseus subsp. alpha Actinomyces microflavus NCBITaxonRef:Krainsky_1914 NCBITaxonRef:Kruger_1905_Waksman_1950 Streptomyces cretaceus Actinomyces lipmanii NCBITaxonRef:Kruger_1905 Oospora cretacea Streptomyces lipmanii (Waksman and Curtis 1916) Waksman and Henrici 1948 Streptomyces cretaceus Streptomyces griseus subsp. alpha (Ciferri 1927) Pridham 1970 (Approved Lists 1980) Streptomyces willmorei Actinomyces cretaceus Actinomyces lipmanii NCBITaxonRef:Waksman_and_Curtis_1916 Actinomyces willmorei NCBITaxonRef:Erikson_1935 Campylobacter jejuni subsp. jejuni NCTC 11168 Campylobacter jejuni subsp. jejuni str. NCTC 11168 Campylobacter jejuni subsp. jejuni strain NCTC 11168 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:192222 ncbi_taxonomy Campylobacter jejuni subsp. jejuni strain NCTC 11168 Campylobacter jejuni subsp. jejuni str. NCTC 11168 Eucalyptus grandis x Eucalyptus urophylla Class imported / merged by efoimporter GC_ID:1 NCBITaxon:192399 ncbi_taxonomy Cocksfoot streak virus CSV Class imported / merged by efoimporter GC_ID:1 NCBITaxon:192452 ncbi_taxonomy CSV Streptomyces rimosus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1927 Streptomyces rimosus Sobin et al. 1953 ncbi_taxonomy Streptomyces rimosus Sobin et al. 1953 Streptomyces rochei Actinomyces rochei Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1928 ncbi_taxonomy Actinomyces rochei Salmonella enterica subsp. enterica serovar Kentucky Class imported / merged by efoimporter GC_ID:11 NCBITaxon:192955 Salmonella kentucky ncbi_taxonomy Salmonella kentucky Streptomyces scabiei Actinomyces scabies Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1930 Oospora scabies Streptomyces scabies ncbi_taxonomy Oospora scabies Streptomyces scabies Actinomyces scabies Campylobacter Ampylobacter Class imported / merged by efoimporter GC_ID:11 NCBITaxon:194 ncbi_taxonomy Ampylobacter Campylobacter coli Campylobacter hyoilei Class imported / merged by efoimporter GC_ID:11 NCBITaxon:195 Vibrio coli ncbi_taxonomy Vibrio coli Campylobacter hyoilei Clostridium perfringens str. 13 Class imported / merged by efoimporter Clostridium perfringens 13 GC_ID:11 NCBITaxon:195102 ncbi_taxonomy Clostridium perfringens 13 Pleuronichthys verticalis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:195635 Pleuronichthys verticalis Jordan & Gilbert, 1880 hornyhead turbot ncbi_taxonomy hornyhead turbot Pleuronichthys verticalis Jordan & Gilbert, 1880 Streptomyces virginiae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:1961 Streptomyces virginiae Grundy et al. 1952 Streptomyces virginiensis ncbi_taxonomy Streptomyces virginiensis Streptomyces virginiae Grundy et al. 1952 Staphylococcus aureus subsp. aureus MW2 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:196620 Staphylococcus aureus (strain MW2) Staphylococcus aureus subsp. aureus str. MW2 ncbi_taxonomy Staphylococcus aureus (strain MW2) Staphylococcus aureus subsp. aureus str. MW2 Corynebacterium glutamicum ATCC 13032 Class imported / merged by efoimporter Corynebacterium glutamicum str. ATCC 13032 Corynebacterium glutamicum strain ATCC 13032 GC_ID:11 NCBITaxon:196627 ncbi_taxonomy Corynebacterium glutamicum str. ATCC 13032 Corynebacterium glutamicum strain ATCC 13032 Campylobacter jejuni Ampylobacter jejuni Campylobacter fetus subsp. jejuni Class imported / merged by efoimporter GC_ID:11 NCBITaxon:197 Vibrio hepaticus Vibrio jejuni ncbi_taxonomy Vibrio jejuni Ampylobacter jejuni Campylobacter fetus subsp. jejuni Vibrio hepaticus Thermosynechococcus elongatus BP-1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:197221 Thermosynechococcus elongatus str. BP-1 Thermosynechococcus elongatus strain BP-1 ncbi_taxonomy Thermosynechococcus elongatus str. BP-1 Thermosynechococcus elongatus strain BP-1 Bacillus anthracis str. Ames Bacillus anthracis (strain Ames) Bacillus anthracis Ames Bacillus anthracis strain Ames Class imported / merged by efoimporter GC_ID:11 NCBITaxon:198094 ncbi_taxonomy Bacillus anthracis Ames Bacillus anthracis strain Ames Bacillus anthracis (strain Ames) Shigella flexneri 2a str. 301 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:198214 Shigella flexneri serotype 2a str. 301 ncbi_taxonomy Shigella flexneri serotype 2a str. 301 uncultured prokaryote Class imported / merged by efoimporter GC_ID:11 NCBITaxon:198431 ncbi_taxonomy Spartina x townsendii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:198504 ncbi_taxonomy Escherichia coli CFT073 Class imported / merged by efoimporter Escherichia coli str. CFT073 Escherichia coli strain CFT073 GC_ID:11 NCBITaxon:199310 ncbi_taxonomy Escherichia coli str. CFT073 Escherichia coli strain CFT073 Bacteria Class imported / merged by efoimporter GC_ID:11 James Malone Monera NCBITaxon:2 Procaryotae Prokaryota Prokaryotae bacteria eubacteria ncbi_taxonomy not Bacteria Haeckel 1894 prokaryotes eubacteria not Bacteria Haeckel 1894 Procaryotae prokaryotes Prokaryotae Prokaryota bacteria Monera Streptosporangium roseum Angiococcus moliroseus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2001 Streptosporangium roseum Couch 1955 ncbi_taxonomy Streptosporangium roseum Couch 1955 Angiococcus moliroseus NCBITaxonRef:Peterson_1959 Angiococcus moliroseus Callicebus cupreus Callithrix cuprea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:202457 coppery titi ncbi_taxonomy Callithrix cuprea coppery titi Collimonas Class imported / merged by efoimporter Collimonas de Boer et al. 2004 GC_ID:11 NCBITaxon:202907 ncbi_taxonomy Collimonas de Boer et al. 2004 Clostridium thermocellum ATCC 27405 Class imported / merged by efoimporter Clostridium thermocellum DSM 1237 Clostridium thermocellum str. ATCC 27405 Clostridium thermocellum strain ATCC 27405 GC_ID:11 NCBITaxon:203119 ncbi_taxonomy Clostridium thermocellum strain ATCC 27405 Clostridium thermocellum DSM 1237 Clostridium thermocellum str. ATCC 27405 Epinephelus tauvina Class imported / merged by efoimporter Epinephelus tauvina (Forsskal, 1775) GC_ID:1 NCBITaxon:203262 greasy grouper ncbi_taxonomy Epinephelus tauvina (Forsskal, 1775) greasy grouper Lactococcus lactis subsp. hordniae Class imported / merged by efoimporter GC_ID:11 Lactobacillus hordniae Lactococcus lactis subsp. hordniae (ex Latorre-Guzman et al. 1977) Schleifer et al. 1986 NCBITaxon:203404 ncbi_taxonomy Lactobacillus hordniae NCBITaxonRef:Latorre-Guzman_et_al._1977 Lactococcus lactis subsp. hordniae (ex Latorre-Guzman et al. 1977) Schleifer et al. 1986 Lactobacillus hordniae Candidatus Blochmannia floridanus 'Candidatus Blochmannia floridanus' Blochmannia floridanus Candidatus Blochmannia floridanus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:203907 ncbi_taxonomy Blochmannia floridanus Candidatus Blochmannia floridanus NCBITaxonRef:Sauer_et_al._2000 'Candidatus Blochmannia floridanus' Melampsora larici-populina Class imported / merged by efoimporter GC_ID:1 Melampsora laricipopulina Melampsora laricis-populina NCBITaxon:203908 ncbi_taxonomy Melampsora laricipopulina Melampsora laricis-populina Dickeya dadantii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:204038 ncbi_taxonomy Herminiimonas arsenicoxydans Cenibacterium arsenoxidans Cenibacterium arsenoxydans Class imported / merged by efoimporter GC_ID:11 NCBITaxon:204773 ncbi_taxonomy Cenibacterium arsenoxidans Cenibacterium arsenoxydans Ehrlichia chaffeensis str. Arkansas Class imported / merged by efoimporter Ehrlichia chaffeensis Arkansas GC_ID:11 NCBITaxon:205920 ncbi_taxonomy Ehrlichia chaffeensis Arkansas Pseudomonas fluorescens Pf0-1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:205922 Pseudomonas fluorescens PfO-1 Pseudomonas fluorescens str. Pf0-1 Pseudomonas fluorescens strain Pf0-1 ncbi_taxonomy Pseudomonas fluorescens str. Pf0-1 Pseudomonas fluorescens strain Pf0-1 Pseudomonas fluorescens PfO-1 Desulfovibrio alaskensis G20 Class imported / merged by efoimporter Desulfovibrio alaskensis str. G20 Desulfovibrio alaskensis strain G20 Desulfovibrio desulfuricans G20 Desulfovibrio desulfuricans str. G20 Desulfovibrio desulfuricans subsp. desulfuricans str. G20 GC_ID:11 NCBITaxon:207559 ncbi_taxonomy Desulfovibrio desulfuricans subsp. desulfuricans str. G20 Desulfovibrio desulfuricans str. G20 Desulfovibrio alaskensis str. G20 Desulfovibrio alaskensis strain G20 Desulfovibrio desulfuricans G20 Pseudomonas aeruginosa UCBPP-PA14 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:208963 Pseudomonas aeruginosa str. UCBPP-PA14 ncbi_taxonomy Pseudomonas aeruginosa str. UCBPP-PA14 Pseudomonas aeruginosa PAO1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:208964 Pseudomonas aeruginosa PA01 Pseudomonas aeruginosa str. PA01 Pseudomonas aeruginosa str. PAO1 ncbi_taxonomy Pseudomonas aeruginosa str. PAO1 Pseudomonas aeruginosa str. PA01 Pseudomonas aeruginosa PA01 Choristoneura fumiferana MNPV CfMNPV Choristoneura fumiferana multicapsid nuclear polyhedrosis virus CfMNPV Choristoneura fumiferana multiple nucleocapsid nuclear polyhedrosis virus CfMNPV Choristoneura fumiferana multiple nucleopolyhedrovirus Choristoneura fumiferana nuclear polyhedrosis virus Choristoneura fumiferana nuclear polyhedrosis virus CfMNPV Choristoneura fumiferana nuclear polyhedrosis virus, CfMNPV Choristoneura fumiferana nucleopolyhedrosis virus Choristoneura fumiferana nucleopolyhedrovirus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:208973 budworm nuclear polyhedrosis virus multinucleocapsid nuclear polyhedrosis virus CfMNPV ncbi_taxonomy spruce budworm nuclear polyhedrosis virus Choristoneura fumiferana nuclear polyhedrosis virus multinucleocapsid nuclear polyhedrosis virus CfMNPV Choristoneura fumiferana multiple nucleopolyhedrovirus Choristoneura fumiferana nuclear polyhedrosis virus CfMNPV Choristoneura fumiferana nucleopolyhedrovirus Choristoneura fumiferana nucleopolyhedrosis virus CfMNPV spruce budworm nuclear polyhedrosis virus budworm nuclear polyhedrosis virus Choristoneura fumiferana multicapsid nuclear polyhedrosis virus CfMNPV Choristoneura fumiferana nuclear polyhedrosis virus, CfMNPV Choristoneura fumiferana multiple nucleocapsid nuclear polyhedrosis virus CfMNPV Salmonella enterica subsp. enterica serovar Typhi str. Ty2 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:209261 Salmonella enterica subsp. enterica serovar Typhi Ty2 Salmonella enterica subsp. enterica serovar Typhi strain Ty2 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Typhi Ty2 Salmonella enterica subsp. enterica serovar Typhi strain Ty2 Mycoplasma gallisepticum Class imported / merged by efoimporter GC_ID:4 NCBITaxon:2096 ncbi_taxonomy Mycoplasma genitalium Class imported / merged by efoimporter GC_ID:4 NCBITaxon:2097 ncbi_taxonomy Actinobacillus pleuropneumoniae serovar 7 Actinobacillus pleuropneumoniae 7 Actinobacillus pleuropneumoniae serotype 7 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:209841 ncbi_taxonomy Actinobacillus pleuropneumoniae serotype 7 Actinobacillus pleuropneumoniae 7 Mycoplasma hyopneumoniae Class imported / merged by efoimporter GC_ID:4 Mycoplasma suipneumoniae NCBITaxon:2099 ncbi_taxonomy Mycoplasma suipneumoniae Helicobacter pylori Campylobacter pylori Campylobacter pylori subsp. pylori Campylobacter pyloridis Class imported / merged by efoimporter GC_ID:11 Helicobacter nemestrinae NCBITaxon:210 ncbi_taxonomy Helicobacter nemestrinae Campylobacter pyloridis Campylobacter pylori subsp. pylori Campylobacter pylori Streptococcus mutans UA159 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:210007 Streptococcus mutans str. UA159 ncbi_taxonomy Streptococcus mutans str. UA159 Shewanella oneidensis MR-1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:211586 Shewanella oneidensis ATCC 700550 Shewanella oneidensis str. MR-1 Shewanella oneidensis strain MR-1 Shewanella sp. MR-1 ncbi_taxonomy Shewanella oneidensis strain MR-1 Shewanella oneidensis ATCC 700550 Shewanella oneidensis str. MR-1 Shewanella sp. MR-1 Acanthamoeba polyphaga mimivirus Acanthomoeba polyphaga mimivirus Class imported / merged by efoimporter GC_ID:1 Mimi NCBITaxon:212035 ncbi_taxonomy Mimi Acanthomoeba polyphaga mimivirus Anaplasma phagocytophilum HZ Anaplasma phagocytophila HZ Anaplasma phagocytophila str. HZ Anaplasma phagocytophilum str. HZ Class imported / merged by efoimporter GC_ID:11 NCBITaxon:212042 ncbi_taxonomy Anaplasma phagocytophilum str. HZ Anaplasma phagocytophila HZ Anaplasma phagocytophila str. HZ Cryptococcus neoformans var. neoformans JEC21 Class imported / merged by efoimporter Cryptococcus neoformans JEC21 Cryptococcus neoformans var. neoformans serotype D JEC21 Cryptococcus neoformans var. neoformans strain JEC21 Filobasidiella neoformans var. neoformans strain JEC21 GC_ID:1 NCBITaxon:214684 ncbi_taxonomy Filobasidiella neoformans var. neoformans strain JEC21 Cryptococcus neoformans var. neoformans strain JEC21 Cryptococcus neoformans var. neoformans serotype D JEC21 Cryptococcus neoformans JEC21 Archaea Archaebacteria Class imported / merged by efoimporter GC_ID:11 James Malone Mendosicutes Metabacteria Monera NCBITaxon:2157 Procaryotae Prokaryota Prokaryotae archaea ncbi_taxonomy prokaryotes Monera prokaryotes Prokaryotae Archaebacteria Procaryotae Mendosicutes Prokaryota archaea Metabacteria Methanobacterium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2160 ncbi_taxonomy Sylvia communis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:216193 greater whitethroat ncbi_taxonomy greater whitethroat Dehalococcoides sp. BAV1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:216389 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Typhimurium str. SL1344 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:216597 Salmonella enterica subsp. enterica serovar Typhimurium SL1344 Salmonella enterica subsp. enterica serovar Typhimurium strain SL1344 Salmonella typhimurium SL1344 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Typhimurium SL1344 Salmonella enterica subsp. enterica serovar Typhimurium strain SL1344 Salmonella typhimurium SL1344 Bifidobacterium longum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:216816 ncbi_taxonomy Vibrio vulnificus CMCP6 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:216895 Vibrio vulnificus str. CMCP6 ncbi_taxonomy Vibrio vulnificus str. CMCP6 Methanobrevibacter smithii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2173 ncbi_taxonomy Moniezia benedeni Class imported / merged by efoimporter GC_ID:1 NCBITaxon:218196 ncbi_taxonomy Methanococcus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2184 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Typhi str. CT18 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:220341 Salmonella enterica subsp. enterica serovar Typhi CT18 Salmonella enterica subsp. enterica serovar Typhi strain CT18 Salmonella typhi CT18 ncbi_taxonomy Salmonella typhi CT18 Salmonella enterica subsp. enterica serovar Typhi CT18 Salmonella enterica subsp. enterica serovar Typhi strain CT18 Pseudomonas fluorescens Pf-5 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:220664 Pseudomonas fluorescens str. Pf-5 Pseudomonas fluorescens strain Pf-5 ncbi_taxonomy Pseudomonas fluorescens strain Pf-5 Pseudomonas fluorescens str. Pf-5 Lactobacillus plantarum WCFS1 Class imported / merged by efoimporter GC_ID:11 Lactobacillus plantarum str. WCFS1 Lactobacillus plantarum strain WCFS1 NCBITaxon:220668 ncbi_taxonomy Lactobacillus plantarum strain WCFS1 Lactobacillus plantarum str. WCFS1 Methanosarcina barkeri Class imported / merged by efoimporter GC_ID:11 Methanobacterium barkeri Methanosarcina barkerii NCBITaxon:2208 Sarcina barkeri ncbi_taxonomy Methanosarcina barkerii Methanobacterium barkeri Sarcina barkeri Methanosarcina mazei Class imported / merged by efoimporter GC_ID:11 Methanococcus frisius Methanococcus mazei Methanosarcina frisia Methanosarcina frisius Methanosarcina mazeii NCBITaxon:2209 ncbi_taxonomy Methanococcus mazei Methanococcus frisius Methanosarcina mazeii Methanosarcina frisia Methanosarcina frisius Palaemonetes pugio Class imported / merged by efoimporter GC_ID:1 NCBITaxon:221654 ncbi_taxonomy Pseudomonas syringae pv. tomato str. DC3000 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:223283 Pseudomonas syringae DC3000 Pseudomonas syringae pv. tomato DC3000 ncbi_taxonomy Pseudomonas syringae DC3000 Pseudomonas syringae pv. tomato DC3000 Aquilegia formosa Aquilegia formosa Fisch. ex DC. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:223430 ncbi_taxonomy Aquilegia formosa Fisch. ex DC. Vibrio parahaemolyticus RIMD 2210633 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:223926 Vibrio parahaemolyticus str. RIMD 2210633 ncbi_taxonomy Vibrio parahaemolyticus str. RIMD 2210633 Halobacterium salinarum Bacillus halobius ruber Bacterium halobium Class imported / merged by efoimporter Flavobacterium (subgen. Halobacterium) halobium Flavobacterium (subgen. Halobacterium) salinarium GC_ID:11 Halobacter salinaria Halobacterium cutirubrum Halobacterium halobium Halobacterium salinarium NCBITaxon:2242 Pseudomonas salinaria Serratia cutirubrum Serratia salinaria ncbi_taxonomy Bacillus halobius ruber Pseudomonas salinaria Flavobacterium (subgen. Halobacterium) salinarium Serratia cutirubrum Halobacterium salinarium Serratia salinaria Halobacterium cutirubrum Halobacter salinaria Halobacterium halobium Bacterium halobium Flavobacterium (subgen. Halobacterium) halobium Bacillus subtilis subsp. subtilis str. 168 Bacillus subtilis subsp. subtilis 168 Bacillus subtilis subsp. subtilis str. BGSC 1A700 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:224308 ncbi_taxonomy Bacillus subtilis subsp. subtilis 168 Bacillus subtilis subsp. subtilis str. BGSC 1A700 Haloferax volcanii Class imported / merged by efoimporter GC_ID:11 Halobacterium volcanii NCBITaxon:2246 ncbi_taxonomy Halobacterium volcanii Salmonella enterica subsp. enterica serovar Java Class imported / merged by efoimporter GC_ID:11 NCBITaxon:224729 Salmonella java ncbi_taxonomy Salmonella java Bradyrhizobium japonicum USDA 110 Bradyrhizobium japonicum str. USDA 110 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:224911 ncbi_taxonomy Bradyrhizobium japonicum str. USDA 110 Brucella melitensis bv. 1 str. 16M Brucella melitensis 16M Brucella melitensis ATCC 23456 Brucella melitensis str. 16M Brucella melitensis str. ATCC 23456 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:224914 ncbi_taxonomy Brucella melitensis ATCC 23456 Brucella melitensis str. 16M Brucella melitensis 16M Brucella melitensis str. ATCC 23456 Pyrococcus furiosus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2261 ncbi_taxonomy Saccharomyces paradoxus NRRL Y-17217 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:226125 ncbi_taxonomy Saccharomyces mikatae IFO 1815 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:226126 ncbi_taxonomy Saccharomyces bayanus MCYC 623 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:226127 ncbi_taxonomy Enterococcus faecalis V583 Class imported / merged by efoimporter Enterococcus faecalis str. V583 GC_ID:11 NCBITaxon:226185 ncbi_taxonomy Enterococcus faecalis str. V583 Bacteroides thetaiotaomicron VPI-5482 Bacteroides thetaiotaomicron str. VPI-5482 Bacteroides thetaiotaomicron strain VPI-5482 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:226186 ncbi_taxonomy Bacteroides thetaiotaomicron strain VPI-5482 Bacteroides thetaiotaomicron str. VPI-5482 Lachancea kluyveri NRRL Y-12651 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:226302 Saccharomyces kluyveri NRRL Y-12651 ncbi_taxonomy Saccharomyces kluyveri NRRL Y-12651 Bacillus cereus ATCC 14579 Bacillus cereus (strain ATCC 14579 / DSM 31) Class imported / merged by efoimporter GC_ID:11 NCBITaxon:226900 ncbi_taxonomy Bacillus cereus (strain ATCC 14579 / DSM 31) Thermoproteus tenax Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2271 ncbi_taxonomy SARS coronavirus Class imported / merged by efoimporter GC_ID:1 HCoV-SARS Human coronavirus (strain SARS) NCBITaxon:227859 SARS virus Severe acute respiratory syndrome coronavirus ncbi_taxonomy HCoV-SARS Human coronavirus (strain SARS) SARS virus Severe acute respiratory syndrome coronavirus SARS coronavirus Tor2 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:227984 ncbi_taxonomy Actinobacillus pleuropneumoniae serovar 1 str. 4074 Actinobacillus pleuropneumoniae 4074 Actinobacillus pleuropneumoniae serovar 1 strain 4074 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:228399 ncbi_taxonomy Actinobacillus pleuropneumoniae 4074 Actinobacillus pleuropneumoniae serovar 1 strain 4074 Nitrosomonas europaea ATCC 19718 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:228410 Nitrosomonas europaea str. ATCC 19718 ncbi_taxonomy Nitrosomonas europaea str. ATCC 19718 Laternula elliptica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:228457 ncbi_taxonomy Sulfolobus acidocaldarius Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2285 ncbi_taxonomy Youcai mosaic virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:228578 ncbi_taxonomy Sulfolobus solfataricus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2287 Sulfolobus fataricus ncbi_taxonomy Sulfolobus fataricus Locusta migratoria manilensis Class imported / merged by efoimporter GC_ID:1 Locusta migratoria manilensis (Meyen, 1835) NCBITaxon:229990 Oriental migratory locust ncbi_taxonomy Locusta migratoria manilensis (Meyen, 1835) Oriental migratory locust Saccharomyces uvarum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:230603 Saccharomyces bayanus var. uvarum Saccharomyces bayanus var. uvarum (Beij.) G.I. Naumov ncbi_taxonomy Saccharomyces bayanus var. uvarum (Beij.) G.I. Naumov Saccharomyces bayanus var. uvarum Arthroderma racemosum Class imported / merged by efoimporter GC_ID:1 Microsporum racemosum NCBITaxon:231010 ncbi_taxonomy Microsporum racemosum Lactobacillus rossiae Class imported / merged by efoimporter GC_ID:11 Lactobacillus rossiae corrig. Corsetti et al. 2005 Lactobacillus rossii NCBITaxon:231049 ncbi_taxonomy Lactobacillus rossii Lactobacillus rossiae corrig. Corsetti et al. 2005 Pyrus communis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:23211 Pyrus balansae ncbi_taxonomy pear pear Pyrus balansae Haemophilus ducreyi 35000HP Class imported / merged by efoimporter GC_ID:11 Haemophilus ducreyi str. 35000HP NCBITaxon:233412 ncbi_taxonomy Haemophilus ducreyi str. 35000HP Thermotoga maritima Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2336 ncbi_taxonomy Thermotoga neapolitana Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2337 ncbi_taxonomy Spea bombifrons Class imported / merged by efoimporter GC_ID:1 NCBITaxon:233779 ncbi_taxonomy plains spadefoot plains spadefoot toad plains spadefoot toad plains spadefoot Brucella abortus Bacterium abortus Brucella melitensis biovar Abortus Brucella melitensis bv. Abortus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:235 ncbi_taxonomy Bacterium abortus Brucella melitensis bv. Abortus Brucella melitensis biovar Abortus Cryptococcus neoformans var. grubii H99 Class imported / merged by efoimporter Cryptococcus neoformans H99 Cryptococcus neoformans var. grubii serotype A H99 GC_ID:1 NCBITaxon:235443 ncbi_taxonomy Cryptococcus neoformans H99 Cryptococcus neoformans var. grubii serotype A H99 Calyptogena magnifica symbiont Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2361 ncbi_taxonomy Xylella fastidiosa Class imported / merged by efoimporter GC_ID:11 NCBITaxon:2371 Xylella almond Xylella oleander ncbi_taxonomy Xylella oleander Xylella almond Citrus sunki Class imported / merged by efoimporter GC_ID:1 NCBITaxon:237574 ncbi_taxonomy Stenocarpella maydis Class imported / merged by efoimporter Diplodia maydis GC_ID:1 NCBITaxon:238245 ncbi_taxonomy Diplodia maydis Synechococcus phage S-PM2 Bacteriophage S-PM2 Class imported / merged by efoimporter Cyanophage S-PM2 Cyanophage phage S-PM2 GC_ID:11 NCBITaxon:238854 ncbi_taxonomy Bacteriophage S-PM2 Cyanophage phage S-PM2 Cyanophage S-PM2 Pyrus hybrid cultivar Class imported / merged by efoimporter GC_ID:1 NCBITaxon:239770 ncbi_taxonomy Pseudonocardia dioxanivorans Class imported / merged by efoimporter GC_ID:11 NCBITaxon:240495 ncbi_taxonomy Populus yunnanensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:242124 Populus yunnanensis Dode ncbi_taxonomy Populus yunnanensis Dode Magnaporthe oryzae 70-15 Class imported / merged by efoimporter GC_ID:1 Magnaporthe grisea 70-15 NCBITaxon:242507 ncbi_taxonomy Magnaporthe grisea 70-15 Porphyromonas gingivalis W83 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:242619 Porphyromonas gingivalis str. W83 Porphyromonas gingivalis strain W83 ncbi_taxonomy Porphyromonas gingivalis strain W83 Porphyromonas gingivalis str. W83 Acidithiobacillus ferrooxidans ATCC 23270 Acidithiobacillus ferrooxidans str. ATCC 23270 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:243159 ncbi_taxonomy Acidithiobacillus ferrooxidans str. ATCC 23270 Dehalococcoides ethenogenes 195 Class imported / merged by efoimporter Dehalococcoides ethenogenes str. 195 Dehalococcoides ethenogenes strain 195 GC_ID:11 NCBITaxon:243164 ncbi_taxonomy Dehalococcoides ethenogenes strain 195 Dehalococcoides ethenogenes str. 195 Deinococcus radiodurans R1 Class imported / merged by efoimporter Deinococcus radiodurans str. R1 GC_ID:11 NCBITaxon:243230 ncbi_taxonomy Deinococcus radiodurans str. R1 Geobacter sulfurreducens PCA Class imported / merged by efoimporter GC_ID:11 Geobacter sulfurreducens str. PCA Geobacter sulfurreducens strain PCA NCBITaxon:243231 ncbi_taxonomy Geobacter sulfurreducens strain PCA Geobacter sulfurreducens str. PCA Photorhabdus luminescens subsp. laumondii TTO1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:243265 Photorhabdus luminescens subsp. laumondii str. TTO1 ncbi_taxonomy Photorhabdus luminescens subsp. laumondii str. TTO1 Mycobacterium smegmatis str. MC2 155 Class imported / merged by efoimporter GC_ID:11 Mycobacterium smegmatis 'MC2 155' Mycobacterium smegmatis MC2 Mycobacterium smegmatis MC2 155 Mycobacterium smegmatis str. MC2 Mycobacterium smegmatis strain MC2 155 NCBITaxon:246196 ncbi_taxonomy Mycobacterium smegmatis MC2 155 Mycobacterium smegmatis MC2 Mycobacterium smegmatis 'MC2 155' Mycobacterium smegmatis str. MC2 Mycobacterium smegmatis strain MC2 155 Ruegeria pomeroyi DSS-3 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:246200 Ruegeria pomeroyi str. DSS-3 Ruegeria pomeroyi strain DSS-3 Silicibacter pomeroyi DSS-3 ncbi_taxonomy Ruegeria pomeroyi str. DSS-3 Silicibacter pomeroyi DSS-3 Ruegeria pomeroyi strain DSS-3 Saccharomyces boulardii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:252598 ncbi_taxonomy Streptococcus pseudopneumoniae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:257758 ncbi_taxonomy Rhodopseudomonas palustris CGA009 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:258594 Rhodopseudomonas palustris str. CGA009 Rhodopseudomonas palustris strain CGA009 ncbi_taxonomy Rhodopseudomonas palustris str. CGA009 Rhodopseudomonas palustris strain CGA009 Psychrobacter arcticus 273-4 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:259536 Psychrobacter arcticum 273-4 Psychrobacter arcticus str. 273-4 Psychrobacter arcticus strain 273-4 Psychrobacter sp. 273-4 ncbi_taxonomy Psychrobacter arcticum 273-4 Psychrobacter arcticus strain 273-4 Psychrobacter sp. 273-4 Psychrobacter arcticus str. 273-4 Bacillus anthracis str. Sterne Bacillus anthracis (strain Sterne) Bacillus anthracis Sterne Class imported / merged by efoimporter GC_ID:11 NCBITaxon:260799 ncbi_taxonomy Bacillus anthracis Sterne Bacillus anthracis (strain Sterne) Exiguobacterium sibiricum 255-15 Class imported / merged by efoimporter Exiguobacterium sibiricum str. 255-15 Exiguobacterium sibiricum strain 255-15 Exiguobacterium sp. 255-15 Exiguobacterium strain 255-15 GC_ID:11 NCBITaxon:262543 ncbi_taxonomy Exiguobacterium strain 255-15 Exiguobacterium sibiricum str. 255-15 Exiguobacterium sp. 255-15 Exiguobacterium sibiricum strain 255-15 Haemophilus influenzae R2866 Class imported / merged by efoimporter GC_ID:11 Haemophilus influenzae str. R2866 Haemophilus influenzae strain R2866 NCBITaxon:262728 ncbi_taxonomy Haemophilus influenzae strain R2866 Haemophilus influenzae str. R2866 Francisella tularensis Bacterium tularense Brucella tularensis Class imported / merged by efoimporter Francisella tularense GC_ID:11 NCBITaxon:263 Pasteurella tularensis ncbi_taxonomy Pasteurella tularensis Brucella tularensis Francisella tularense Bacterium tularense Bdellovibrio bacteriovorus HD100 Bdellovibrio bacteriovorus DSM 50701 Bdellovibrio bacteriovorus str. HD100 Bdellovibrio bacteriovorus strain HD100 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:264462 ncbi_taxonomy Bdellovibrio bacteriovorus DSM 50701 Bdellovibrio bacteriovorus str. HD100 Bdellovibrio bacteriovorus strain HD100 Synechococcus phage S-RSM2 Bacteriophage S-RSM2 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:264653 ncbi_taxonomy Bacteriophage S-RSM2 Lotus filicaulis Class imported / merged by efoimporter GC_ID:1 Lotus filicaulis Dur. NCBITaxon:264956 ncbi_taxonomy Lotus filicaulis Dur. Rhodopirellula baltica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:265606 ncbi_taxonomy Listeria monocytogenes serotype 4b str. F2365 Class imported / merged by efoimporter GC_ID:11 Listeria monocytogenes serotype 4b strain F2365 Listeria monocytogenes str. 4b F2365 NCBITaxon:265669 ncbi_taxonomy Listeria monocytogenes serotype 4b strain F2365 Listeria monocytogenes str. 4b F2365 Cupriavidus metallidurans CH34 Class imported / merged by efoimporter Cupriavidus metallidurans str. CH34 Cupriavidus metallidurans strain CH34 GC_ID:11 NCBITaxon:266264 Ralstonia metallidurans CH34 Wautersia metallidurans CH34 ncbi_taxonomy Cupriavidus metallidurans str. CH34 Ralstonia metallidurans CH34 Wautersia metallidurans CH34 Cupriavidus metallidurans strain CH34 Methanococcus maripaludis S2 Class imported / merged by efoimporter GC_ID:11 Methanococcus maripaludis LL Methanococcus maripaludis str. S2 Methanococcus maripaludis strain S2 NCBITaxon:267377 ncbi_taxonomy Methanococcus maripaludis str. S2 Methanococcus maripaludis LL Methanococcus maripaludis strain S2 Ralstonia solanacearum GMI1000 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:267608 Ralstonia solanacearum str. GMI1000 Ralstonia solanacearum strain GMI1000 ncbi_taxonomy Ralstonia solanacearum str. GMI1000 Ralstonia solanacearum strain GMI1000 Citrus limon Citrus limonum Citrus x limon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:2708 lemon ncbi_taxonomy lemon Citrus limonum Citrus x limon Citrus sinensis Citrus sinensis (L.) Osbeck Citrus x sinensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:2711 Valencia orange apfelsine naranja navel orange ncbi_taxonomy sweet orange Valencia orange apfelsine naranja Citrus x sinensis Citrus sinensis (L.) Osbeck sweet orange navel orange Aggregatibacter actinomycetemcomitans HK1651 Actinobacillus actinomycetemcomitans HK1651 Aggregatibacter actinomycetemcomitans str. HK1651 Aggregatibacter actinomycetemcomitans strain HK1651 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:272556 ncbi_taxonomy Actinobacillus actinomycetemcomitans HK1651 Aggregatibacter actinomycetemcomitans str. HK1651 Aggregatibacter actinomycetemcomitans strain HK1651 Bacteroides fragilis NCTC 9343 Bacteroides fragilis ATCC 25285 Bacteroides fragilis NCTC9343 Bacteroides fragilis str. NCTC 9343 Bacteroides fragilis strain NCTC 9343 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:272559 ncbi_taxonomy Bacteroides fragilis NCTC9343 Bacteroides fragilis str. NCTC 9343 Bacteroides fragilis ATCC 25285 Bacteroides fragilis strain NCTC 9343 Burkholderia pseudomallei K96243 Burkholderia pseudomallei str. K96243 Burkholderia pseudomallei strain K96243 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:272560 ncbi_taxonomy Burkholderia pseudomallei strain K96243 Burkholderia pseudomallei str. K96243 Clostridium acetobutylicum ATCC 824 Class imported / merged by efoimporter Clostridium acetobutylicum DSM 792 Clostridium acetobutylicum NCIMB 8052 Clostridium acetobutylicum str. ATCC 824 Clostridium acetobutylicum strain ATCC 824 GC_ID:11 NCBITaxon:272562 ncbi_taxonomy Clostridium acetobutylicum NCIMB 8052 Clostridium acetobutylicum DSM 792 Clostridium acetobutylicum str. ATCC 824 Clostridium acetobutylicum strain ATCC 824 Clostridium difficile 630 Class imported / merged by efoimporter Clostridium difficile 630 (epidemic type X) Clostridium difficile str. 630 Clostridium difficile strain 630 GC_ID:11 NCBITaxon:272563 ncbi_taxonomy Clostridium difficile str. 630 Clostridium difficile strain 630 Clostridium difficile 630 (epidemic type X) Lactococcus lactis subsp. lactis Il1403 Class imported / merged by efoimporter GC_ID:11 Lactococcus lactis subsp. lactis str. Il1403 Lactococcus lactis subsp. lactis strain Il1403 NCBITaxon:272623 ncbi_taxonomy Lactococcus lactis subsp. lactis strain Il1403 Lactococcus lactis subsp. lactis str. Il1403 Legionella pneumophila subsp. pneumophila str. Philadelphia 1 Class imported / merged by efoimporter GC_ID:11 Legionella pneumophila subsp. pneumophila 'Philadelphia 1' Legionella pneumophila subsp. pneumophila strain Philadelphia 1 NCBITaxon:272624 ncbi_taxonomy Legionella pneumophila subsp. pneumophila 'Philadelphia 1' Legionella pneumophila subsp. pneumophila strain Philadelphia 1 Methylobacterium extorquens AM1 Class imported / merged by efoimporter GC_ID:11 Methylobacterium extorquens str. AM1 Methylobacterium extorquens strain AM1 NCBITaxon:272630 Pseudomonas AM1 Pseudomonas sp. AM1 ncbi_taxonomy Pseudomonas AM1 Methylobacterium extorquens strain AM1 Pseudomonas sp. AM1 Methylobacterium extorquens str. AM1 Pasteurella multocida subsp. multocida str. Pm70 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:272843 Pasteurella multocida subsp. multocida Pm70 Pasteurella multocida subsp. multocida strain Pm70 ncbi_taxonomy Pasteurella multocida subsp. multocida Pm70 Pasteurella multocida subsp. multocida strain Pm70 Saccharomyces paradoxus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:27291 ncbi_taxonomy Saccharomyces pastorianus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:27292 Saccharomyces pasteurianus lager yeast ncbi_taxonomy Saccharomyces pasteurianus lager yeast Rhodobacter sphaeroides 2.4.1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:272943 Rhodobacter sphaeroides ATCC 17023 Rhodobacter sphaeroides ATH 2.4.1 Rhodobacter sphaeroides str. 2.4.1 Rhodobacter sphaeroides strain 2.4.1 ncbi_taxonomy Rhodobacter sphaeroides ATCC 17023 Rhodobacter sphaeroides ATH 2.4.1 Rhodobacter sphaeroides strain 2.4.1 Rhodobacter sphaeroides str. 2.4.1 Rickettsia conorii str. Malish 7 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:272944 Rickettsia conorii 'Malish 7' Rickettsia conorii strain Malish 7 ncbi_taxonomy Rickettsia conorii strain Malish 7 Rickettsia conorii 'Malish 7' Sulfolobus solfataricus P2 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:273057 Sulfolobus solfataricus str. P2 Sulfolobus solfataricus strain P2 ncbi_taxonomy Sulfolobus solfataricus str. P2 Sulfolobus solfataricus strain P2 Thermoplasma acidophilum DSM 1728 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:273075 Thermoplasma acidophilum str. DSM 1728 Thermoplasma acidophilum strain DSM 1728 ncbi_taxonomy Thermoplasma acidophilum strain DSM 1728 Thermoplasma acidophilum str. DSM 1728 Penicillium expansum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:27334 Penicillium expasum ncbi_taxonomy Penicillium expasum Ngari virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:273357 ncbi_taxonomy Brevibacterium aurantiacum Brevibacterium aurantiacum Gavrish et al. 2005 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:273384 ncbi_taxonomy Brevibacterium aurantiacum Gavrish et al. 2005 Eukaryota Eucaryotae Eucaryotae[accessedResource: NIFSTD:birnlex_399][accessDate: 05-04-2011] Eukarya Eukarya[accessedResource: NIFSTD:birnlex_399][accessDate: 05-04-2011] James Malone NIFSTD:birnlex_399 Tomasz Adamusiak eucaryotes eucaryotes[accessedResource: NIFSTD:birnlex_399][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0001449 Eubalaena glacialis Balaena glacialis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:27606 North Atlantic right whale ncbi_taxonomy northern right whale northern right whale Balaena glacialis North Atlantic right whale Micropterus salmoides Class imported / merged by efoimporter GC_ID:1 Micropterus salmoides (Lacepede, 1802) NCBITaxon:27706 largemouth bass largemouth blackbass ncbi_taxonomy largemouth blackbass Micropterus salmoides (Lacepede, 1802) largemouth bass Limanda limanda Class imported / merged by efoimporter GC_ID:1 Limanda limanda (Linnaeus, 1758) Liopsetta limanda NCBITaxon:27771 Pleuronectes limanda common dab dab ncbi_taxonomy Limanda limanda (Linnaeus, 1758) Pleuronectes limanda common dab Liopsetta limanda dab Naumovozyma Class imported / merged by efoimporter GC_ID:1 NCBITaxon:278028 Naumovia ncbi_taxonomy Naumovia Pyropia yezoensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:2788 Porphyra yezoensis ncbi_taxonomy Porphyra yezoensis Staphylococcus lugdunensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28035 ncbi_taxonomy Streptococcus mitis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28037 ncbi_taxonomy Lactobacillus curvatus Bacterium curvatum Class imported / merged by efoimporter GC_ID:11 Lactobacillus curvatus (Troili-Petersson 1903) Abo-Elnaga and Kandler 1965 (Approved Lists 1980) eme NCBITaxon:28038 ncbi_taxonomy Bacterium curvatum Bacterium curvatum NCBITaxonRef:Troili-Petersson_1903 Lactobacillus curvatus (Troili-Petersson 1903) Abo-Elnaga and Kandler 1965 (Approved Lists 1980) eme Emiliania huxleyi CCMP1516 Class imported / merged by efoimporter Emiliania huxleyi CCMP2090 GC_ID:1 NCBITaxon:280463 ncbi_taxonomy Emiliania huxleyi CCMP2090 Bordetella sp. Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28081 ncbi_taxonomy Ralstonia syzygii Burkholderia syzygii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28097 Pseudomonas syzygii ncbi_taxonomy Pseudomonas syzygii Burkholderia syzygii Bacteroides ovatus Bacteroides fragilis subsp. ovatus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28116 Pasteurella ovata Pseudobacterium ovatum ncbi_taxonomy Pseudobacterium ovatum Pasteurella ovata Bacteroides fragilis subsp. ovatus Salmonella enterica subsp. enterica serovar Oranienburg Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28147 Salmonella oranienberg Salmonella oranienburg ncbi_taxonomy Salmonella oranienberg Salmonella oranienburg Salmonella enterica subsp. enterica serovar Senftenberg Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28150 Salmonella enterica serovar Senftenberg Salmonella senftenberg ncbi_taxonomy Salmonella senftenberg Salmonella enterica serovar Senftenberg Oscheius myriophila Staphylococcus aureus subsp. aureus MRSA252 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:282458 Staphylococcus aureus subsp. aureus str. MRSA252 Staphylococcus aureus subsp. aureus strain MRSA252 ncbi_taxonomy Staphylococcus aureus subsp. aureus strain MRSA252 Staphylococcus aureus subsp. aureus str. MRSA252 Staphylococcus aureus subsp. aureus MSSA476 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:282459 Staphylococcus aureus subsp. aureus str. MSSA476 Staphylococcus aureus subsp. aureus strain MSSA476 ncbi_taxonomy Staphylococcus aureus subsp. aureus str. MSSA476 Staphylococcus aureus subsp. aureus strain MSSA476 Human adenovirus 4 Adenovirus type 4 Class imported / merged by efoimporter GC_ID:1 Human adenovirus type 4 Mastadenovirus h4 NCBITaxon:28280 ncbi_taxonomy Mastadenovirus h4 Adenovirus type 4 Human adenovirus type 4 Human adenovirus 40 Adenovirus type 40 Class imported / merged by efoimporter GC_ID:1 Human adenovirus type 40 Mastadenovirus 40 Mastadenovirus h40 NCBITaxon:28284 ncbi_taxonomy Adenovirus type 40 Mastadenovirus h40 Mastadenovirus 40 Human adenovirus type 40 Human adenovirus 5 Adenovirus type 5 Class imported / merged by efoimporter GC_ID:1 Human adenovirus type 5 Mastadenovirus 5 Mastadenovirus h5 NCBITaxon:28285 adenovirus Ad5 adenovirus type 5 AD5 ncbi_taxonomy Mastadenovirus 5 Human adenovirus type 5 adenovirus type 5 AD5 Adenovirus type 5 adenovirus Ad5 Mastadenovirus h5 Anolis carolinensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:28377 green anole ncbi_taxonomy green anole Burkholderia pseudomallei Bacillus pseudomallei Bacterium whitmori Burkholderia pseudomallai Class imported / merged by efoimporter GC_ID:11 Loefflerella pseudomallei Malleomyces pseudomallei NCBITaxon:28450 Pseudomonas pseudomallei ncbi_taxonomy Bacterium whitmori Loefflerella pseudomallei Malleomyces pseudomallei Burkholderia pseudomallai Bacillus pseudomallei Pseudomonas pseudomallei Schizosaccharomyces pombe 972h- Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:284812 ncbi_taxonomy Phaeodactylum tricornutum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:2850 ncbi_taxonomy Penicillium funiculosum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:28572 ncbi_taxonomy Senecio cambrensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:285720 Senecio cambrensis Rosser Welsh ragwort ncbi_taxonomy Senecio cambrensis Rosser Welsh ragwort Penicillium islandicum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:28573 ncbi_taxonomy Aegilops tauschii x Triticum turgidum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:285950 ncbi_taxonomy synthetic wheat synthetic wheat Rhagoletis pomonella Class imported / merged by efoimporter GC_ID:1 NCBITaxon:28610 apple maggot ncbi_taxonomy apple maggot Saccharum officinarum complex Class imported / merged by efoimporter GC_ID:1 NCBITaxon:286192 cultivated sugarcanes ncbi_taxonomy cultivated sugarcanes Salmonella enterica subsp. enterica serovar Emek Class imported / merged by efoimporter GC_ID:11 NCBITaxon:286784 ncbi_taxonomy Pseudomonas aeruginosa Bacillus aeruginosus Bacillus pyocyaneus Bacterium aeruginosum Bacterium pyocyaneum Class imported / merged by efoimporter GC_ID:11 Micrococcus pyocyaneus NCBITaxon:287 Peudomonas aeruginosa Pseudomonas polycolor Pseudomonas pyocyanea ncbi_taxonomy Bacillus pyocyaneus Micrococcus pyocyaneus Pseudomonas pyocyanea Pseudomonas polycolor Bacillus aeruginosus Bacterium pyocyaneum Bacterium aeruginosum Peudomonas aeruginosa NCBITaxonRef:Clara_1930 Pseudomonas polycolor Ectocarpus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:2879 ncbi_taxonomy Ectocarpus siliculosus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:2880 ncbi_taxonomy Solea senegalensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:28829 Senegalese sole Solea senegalensis Kaup, 1858 ncbi_taxonomy Senegalese sole Solea senegalensis Kaup, 1858 Moniezia expansa Class imported / merged by efoimporter GC_ID:1 NCBITaxon:28841 ncbi_taxonomy sheep tapeworm sheep tapeworm Salmonella enterica Bacillus cholerae-suis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:28901 Salmonella cholerae-suis Salmonella choleraesuis Salmonella enterica ser. choleraesuis ncbi_taxonomy Salmonella enterica ser. choleraesuis Salmonella choleraesuis Bacillus cholerae-suis Salmonella cholerae-suis Fagus sylvatica Class imported / merged by efoimporter European beech Fagus sylvestris GC_ID:1 NCBITaxon:28930 ncbi_taxonomy European beech Fagus sylvestris Kluyveromyces lactis Candida sphaerica Class imported / merged by efoimporter GC_ID:1 Kluyveromyces drosophilarum Kluyveromyces lactis var. drosophilarum Kluyveromyces lactis var. lactis Kluyveromyces marxianus lactis Kluyveromyces marxianus var. drosophilarum Kluyveromyces marxianus var. lactis NCBITaxon:28985 ncbi_taxonomy Kluyveromyces marxianus var. drosophilarum Kluyveromyces lactis var. lactis Kluyveromyces marxianus lactis Kluyveromyces drosophilarum Candida sphaerica Kluyveromyces marxianus var. lactis Kluyveromyces lactis var. drosophilarum Emiliania huxleyi Class imported / merged by efoimporter Emiliania huxleyii GC_ID:1 NCBITaxon:2903 ncbi_taxonomy Emiliania huxleyii Anaeromyxobacter dehalogenans 2CP-C Anaeromyxobacter dehalogenans ATCC BAA-259 Anaeromyxobacter dehalogenans str. 2CP-C Anaeromyxobacter dehalogenans strain 2CP-C Class imported / merged by efoimporter GC_ID:11 NCBITaxon:290397 ncbi_taxonomy Anaeromyxobacter dehalogenans ATCC BAA-259 Anaeromyxobacter dehalogenans str. 2CP-C Anaeromyxobacter dehalogenans strain 2CP-C Clostridium beijerinckii NCIMB 8052 Class imported / merged by efoimporter Clostridium beijerincki NCIMB 8052 Clostridium beijerinckii str. NCIMB 8052 Clostridium beijerinckii strain NCIMB 8052 GC_ID:11 NCBITaxon:290402 ncbi_taxonomy Clostridium beijerincki NCIMB 8052 Clostridium beijerinckii str. NCIMB 8052 Clostridium beijerinckii strain NCIMB 8052 Helicoverpa armigera American bollworm Class imported / merged by efoimporter GC_ID:1 Helicoverpa armigera (Hubner, 1808) Heliothis (Helicoverpa) armigera Heliothis armigera NCBITaxon:29058 corn ear worm cotton bollworm ncbi_taxonomy scarce bordered straw tobacco budworm Heliothis (Helicoverpa) armigera scarce bordered straw Helicoverpa armigera (Hubner, 1808) tobacco budworm cotton bollworm corn ear worm American bollworm Heliothis armigera Xanthomonas oryzae pv. oryzae KACC10331 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:291331 Xanthomonas oryzae pv. oryzae str. KACC10331 Xanthomonas oryzae pv. oryzae strain KACC10331 ncbi_taxonomy Xanthomonas oryzae pv. oryzae str. KACC10331 Xanthomonas oryzae pv. oryzae strain KACC10331 Protomelas similis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29149 Protomelas similes Protomelas similis (Regan, 1922) ncbi_taxonomy red empress cichlid Protomelas similis (Regan, 1922) red empress cichlid Protomelas similes Mytilus galloprovincialis Class imported / merged by efoimporter GC_ID:1 Mediterranean mussel NCBITaxon:29158 ncbi_taxonomy Mediterranean mussel Crassostrea gigas Class imported / merged by efoimporter Crassotrea gigas GC_ID:1 NCBITaxon:29159 Ostrea gigas Pacific oyster ncbi_taxonomy Pacific oyster Ostrea gigas Crassotrea gigas Neospora caninum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29176 ncbi_taxonomy Strombus gigas Class imported / merged by efoimporter GC_ID:1 NCBITaxon:291982 ncbi_taxonomy pink conch queen conch pink conch queen conch Burkholderia cepacia Burgholderia cepacia Burkholderia capacia Burkholderia cepacia genomovar I Class imported / merged by efoimporter GC_ID:11 NCBITaxon:292 Pseudomonas cepacia Pseudomonas kingii Pseudomonas multivorans ncbi_taxonomy Pseudomonas kingii Burgholderia cepacia Pseudomonas multivorans Burkholderia capacia Pseudomonas cepacia Burkholderia cepacia genomovar I Alexandrium tamarense Alexandrium tamarence Class imported / merged by efoimporter GC_ID:1 NCBITaxon:2926 ncbi_taxonomy Alexandrium tamarence Methanococcoides burtonii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:29291 ncbi_taxonomy Streptomyces cattleya Class imported / merged by efoimporter GC_ID:11 NCBITaxon:29303 ncbi_taxonomy Clostridium argentinense Class imported / merged by efoimporter Clostridium argentinense Suen et al. 1988 GC_ID:11 NCBITaxon:29341 ncbi_taxonomy Clostridium argentinense Suen et al. 1988 Streptococcus pyogenes MGAS5005 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:293653 ncbi_taxonomy Staphylococcus saprophyticus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:29385 ncbi_taxonomy Streptococcus gordonii str. Challis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:29390 Streptococcus gordonii Challis Streptococcus gordonii Challis NCTC7868 Streptococcus gordonii subsp. challis ncbi_taxonomy Streptococcus gordonii Challis Streptococcus gordonii Challis NCTC7868 Streptococcus gordonii subsp. challis Pseudomonas fluorescens Bacillus fluorescens Bacillus fluorescens liquefaciens Bacterium fluorescen Class imported / merged by efoimporter GC_ID:11 Liquidomonas fluorescens NCBITaxon:294 ncbi_taxonomy Bacillus fluorescens liquefaciens Liquidomonas fluorescens Bacterium fluorescen Bacillus fluorescens Brucella melitensis Class imported / merged by efoimporter GC_ID:11 Micrococcus melitensis NCBITaxon:29459 Streptococcus Miletensis ncbi_taxonomy Micrococcus melitensis Streptococcus Miletensis Pectobacterium atrosepticum Bacillus atrosepticus Bacterium atrosepticum Bacterium cartovorum var. atrosepticum Class imported / merged by efoimporter Erwinia atroseptica Erwinia caratovora subsp. atroseptica Erwinia carotovora atroseptica Erwinia carotovora subsp. atroseptica Erwinia carotovora var. atroseptica GC_ID:11 NCBITaxon:29471 Pectobacterium atrosepticum (van Hall 1902) Hauben et al. 1999 Pectobacterium carotovorum subsp. atrosepticum Pectobacterium carotovorum var. atrosepticum ncbi_taxonomy Pectobacterium carotovorum subsp. atrosepticum Bacillus atrosepticus Erwinia carotovora var. atroseptica Erwinia atroseptica Pectobacterium carotovorum var. atrosepticum Erwinia carotovora atroseptica Bacterium cartovorum var. atrosepticum Bacterium atrosepticum Erwinia caratovora subsp. atroseptica Pectobacterium atrosepticum (van Hall 1902) Hauben et al. 1999 Erwinia carotovora subsp. atroseptica Candida albicans WO-1 Class imported / merged by efoimporter GC_ID:12 NCBITaxon:294748 ncbi_taxonomy Streptococcus pyogenes M49 591 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:294934 Streptococcus pyogenes str. M49 591 Streptococcus pyogenes strain M49 591 ncbi_taxonomy Streptococcus pyogenes strain M49 591 Streptococcus pyogenes str. M49 591 Bacteroides fragilis YCH46 Bacteroides fragilis str. YCH46 Bacteroides fragilis strain YCH46 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:295405 ncbi_taxonomy Bacteroides fragilis strain YCH46 Bacteroides fragilis str. YCH46 Azoarcus sp. Class imported / merged by efoimporter GC_ID:11 NCBITaxon:29544 ncbi_taxonomy Funaria hygrometrica Class imported / merged by efoimporter Funaria hygrometrica Hedw. GC_ID:1 NCBITaxon:29583 ncbi_taxonomy Funaria hygrometrica Hedw. Ceratopteris thalictroides Ceratopteris thalictroides (L.) Brongn. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29596 ncbi_taxonomy Ceratopteris thalictroides (L.) Brongn. Thalassiosira pseudonana CCMP1335 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:296543 Thalassiosira pseudonana strain CCMP1335 ncbi_taxonomy Thalassiosira pseudonana strain CCMP1335 Zostera marina Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29655 ncbi_taxonomy Polaromonas sp. JS666 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:296591 ncbi_taxonomy Spartina alterniflora Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29706 ncbi_taxonomy salt marsh cordgrass smooth cordgrass smooth cordgrass salt marsh cordgrass Gossypium arboreum Class imported / merged by efoimporter GC_ID:1 Gossypium arboreum L. NCBITaxon:29729 ncbi_taxonomy tree cotton Gossypium arboreum L. tree cotton Vitis vinifera Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29760 Vitis vinifera subsp. vinifera ncbi_taxonomy wine grape Vitis vinifera subsp. vinifera wine grape Fusarium incarnatum Class imported / merged by efoimporter Fusarium pallidoroseum Fusarium semitectum GC_ID:1 NCBITaxon:298378 ncbi_taxonomy Fusarium semitectum Fusarium pallidoroseum Hypocrea virens Class imported / merged by efoimporter GC_ID:1 Gliocladium flavofuscum Gliocladium virens NCBITaxon:29875 Trichoderma flavofuscum Trichoderma virens ncbi_taxonomy Trichoderma virens Trichoderma flavofuscum Gliocladium flavofuscum Gliocladium virens Laccaria bicolor Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29883 ncbi_taxonomy Lactobacillus reuteri F275 Class imported / merged by efoimporter GC_ID:11 Lactobacillus reuteri F 275 Lactobacillus reuteri str. F275 Lactobacillus reuteri strain F275 NCBITaxon:299033 ncbi_taxonomy Lactobacillus reuteri strain F275 Lactobacillus reuteri str. F275 Lactobacillus reuteri F 275 Fusarium sp. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:29916 ncbi_taxonomy Streptococcus thermophilus CNRZ1066 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:299768 Streptococcus thermophilus str. CNRZ1066 Streptococcus thermophilus strain CNRZ1066 ncbi_taxonomy Streptococcus thermophilus str. CNRZ1066 Streptococcus thermophilus strain CNRZ1066 Pseudomonas mendocina Class imported / merged by efoimporter GC_ID:11 NCBITaxon:300 ncbi_taxonomy Lachancea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:300275 ncbi_taxonomy Thermus thermophilus HB8 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:300852 ncbi_taxonomy Bifidobacterium animalis subsp. lactis Bifidobacterium lactis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:302911 ncbi_taxonomy Bifidobacterium lactis Pseudomonas putida Arthrobacter siderocapsulatus Bacillus fluorescens putidus Bacillus putidus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:303 Pseudomanas putida Pseudomonas arvilla Pseudomonas convexa Pseudomonas eisenbergii Pseudomonas incognita Pseudomonas ovalis Pseudomonas rugosa Pseudomonas sp. KDB25 Pseudomonas striata ncbi_taxonomy Pseudomonas ovalis Pseudomanas putida Bacillus fluorescens putidus Pseudomonas arvilla Pseudomonas rugosa Pseudomonas convexa Pseudomonas eisenbergii Arthrobacter siderocapsulatus Bacillus putidus Pseudomonas sp. KDB25 Pseudomonas incognita Pseudomonas striata Ralstonia solanacearum Bacillus solanacearum Burkholderia solanacearum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:305 Pseudomonas solanacearum ncbi_taxonomy Burkholderia solanacearum Bacillus solanacearum Pseudomonas solanacearum Chlamydomonas reinhardtii Chlamydomonas reihhardtii Chlamydomonas reinhardtii P.A.Dangeard Chlamydomonas smithii Chlamydomonas smithii R.W.Howshaw & H.Ettl Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3055 ncbi_taxonomy Chlamydomonas smithii Chlamydomonas reihhardtii Chlamydomonas smithii R.W.Howshaw & H.Ettl Chlamydomonas reinhardtii P.A.Dangeard Microcebus murinus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:30608 gray mouse lemur grey mouse lemur ncbi_taxonomy gray mouse lemur grey mouse lemur Volvox carteri Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3067 ncbi_taxonomy Phalaenopsis aphrodite subsp. formosana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:308872 Phalaenopsis amabilis var. formosa Phalaenopsis aphrodite var. formosa ncbi_taxonomy Phalaenopsis amabilis var. formosa Phalaenopsis aphrodite var. formosa Saccharina latissima Class imported / merged by efoimporter GC_ID:1 Laminaria saccharina NCBITaxon:309358 Saccharina plana ncbi_taxonomy Laminaria saccharina Saccharina plana Dehalococcoides sp. VS Class imported / merged by efoimporter GC_ID:11 NCBITaxon:311424 ncbi_taxonomy Holothuria glaberrima Class imported / merged by efoimporter GC_ID:1 NCBITaxon:31192 ncbi_taxonomy Streptomyces hygroscopicus subsp. jinggangensis 'Streptomyces hygroscopicus subsp. jinggangensis' Class imported / merged by efoimporter GC_ID:11 NCBITaxon:311982 Streptomyces hygroscopicus var. jinggangensis ncbi_taxonomy Streptomyces hygroscopicus var. jinggangensis 'Streptomyces hygroscopicus subsp. jinggangensis' Caenorhabditis remanei Caenorhabditis vulgarensis Caenorhabditis vulgariensis Caenorhabditis vulgaris Caenorhabditis vulgaris Baird, Fitch & Emmons, 1994 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:31234 ncbi_taxonomy Caenorhabditis vulgariensis Caenorhabditis vulgarensis Caenorhabditis vulgaris Baird, Fitch & Emmons, 1994 Caenorhabditis vulgaris Plasmodium chabaudi chabaudi Class imported / merged by efoimporter GC_ID:1 NCBITaxon:31271 ncbi_taxonomy Trypanosoma brucei gambiense Class imported / merged by efoimporter GC_ID:1 NCBITaxon:31285 Trypanosoma (Trypanozoon) brucei gambiense Trypanosoma gambiense ncbi_taxonomy Trypanosoma (Trypanozoon) brucei gambiense Trypanosoma gambiense Lactococcus phage c2 Bacteriophage c2 Class imported / merged by efoimporter GC_ID:11 Lactococcus bacteriophage c2 NCBITaxon:31537 lactococcal bacteriophage c2 ncbi_taxonomy Bacteriophage c2 lactococcal bacteriophage c2 Lactococcus bacteriophage c2 Aliivibrio salmonicida LFI1238 Aliivibrio salmonicida str. LFI1238 Aliivibrio salmonicida strain LFI1238 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:316275 Vibrio salmonicida LFI1238 ncbi_taxonomy Vibrio salmonicida LFI1238 Aliivibrio salmonicida str. LFI1238 Aliivibrio salmonicida strain LFI1238 Magnaporthe oryzae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:318829 Pyricularia oryzae Pyricularia oryzae Cavara ncbi_taxonomy rice blast fungus Pyricularia oryzae Cavara rice blast fungus Pyricularia oryzae Caldicellulosiruptor bescii Anaerocellum thermophilum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:31899 ncbi_taxonomy Anaerocellum thermophilum Pseudomonas syringae pv. phaseolicola Class imported / merged by efoimporter GC_ID:11 NCBITaxon:319 Pseudomonas savastanoi pv. phaseolicola Pseudomonas syringae (PV. PHASEOLICOLA) Pseudomonas syringae (pv. phaseolicola), and Pseudomonas syringae phaseolicola ncbi_taxonomy Pseudomonas syringae phaseolicola Pseudomonas savastanoi pv. phaseolicola Pseudomonas syringae (pv. phaseolicola), and Pseudomonas syringae (PV. PHASEOLICOLA) Streptococcus pyogenes MGAS6180 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:319701 Streptococcus pyogenes str. MGAS6180 Streptococcus pyogenes strain MGAS6180 ncbi_taxonomy Streptococcus pyogenes strain MGAS6180 Streptococcus pyogenes str. MGAS6180 Helicobacter hepaticus Class imported / merged by efoimporter GC_ID:11 Helicobacter ulmiensis Heliobacterium hepaticus NCBITaxon:32025 ncbi_taxonomy Helicobacter ulmiensis Heliobacterium hepaticus Synechococcus elongatus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:32046 ncbi_taxonomy Physcomitrella patens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3218 ncbi_taxonomy Lactobacillus delbrueckii subsp. bulgaricus ATCC BAA-365 Class imported / merged by efoimporter GC_ID:11 Lactobacillus delbrueckii subsp. bulgaricus Lb-18 Lactobacillus delbrueckii subsp. bulgaricus str. ATCC BAA-365 Lactobacillus delbrueckii subsp. bulgaricus strain ATCC BAA-365 NCBITaxon:321956 ncbi_taxonomy Lactobacillus delbrueckii subsp. bulgaricus strain ATCC BAA-365 Lactobacillus delbrueckii subsp. bulgaricus Lb-18 Lactobacillus delbrueckii subsp. bulgaricus str. ATCC BAA-365 Rubus idaeus Class imported / merged by efoimporter European raspberry GC_ID:1 NCBITaxon:32247 Rubus idaeus L. ncbi_taxonomy red raspberry Rubus idaeus L. European raspberry red raspberry Tetranychus urticae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:32264 Tetranychus urticae Koch, 1836 ncbi_taxonomy red spider mite two-spotted spider mite twospotted mite twospotted mite two-spotted spider mite Tetranychus urticae Koch, 1836 red spider mite Selaginella Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3246 ncbi_taxonomy Julidochromis marlieri Class imported / merged by efoimporter GC_ID:1 NCBITaxon:32499 ncbi_taxonomy Neolamprologus brichardi Class imported / merged by efoimporter GC_ID:1 Lamprologus brichardi NCBITaxon:32507 Neolamprologus brichardi (Poll, 1974) lyretail cichlid ncbi_taxonomy Lamprologus brichardi lyretail cichlid Neolamprologus brichardi (Poll, 1974) Geranium dissectum Class imported / merged by efoimporter GC_ID:1 Geranium dissectum L. NCBITaxon:326028 ncbi_taxonomy Geranium dissectum L. Human herpesvirus 6B Class imported / merged by efoimporter GC_ID:1 Human herpesvirus 6 type B NCBITaxon:32604 ncbi_taxonomy Human herpesvirus 6 type B synthetic construct Class imported / merged by efoimporter GC_ID:11 NCBITaxon:32630 SYNTHETIC CONSTRUCT sequences artificial artificial gene artificial sequence ncbi_taxonomy synthetic synthetic DNA synthetic constructs artificial sequence SYNTHETIC CONSTRUCT sequences synthetic artificial synthetic DNA synthetic constructs artificial gene Frankia alni ACN14a Class imported / merged by efoimporter Frankia alni str. ACN14a Frankia alni strain ACN14a GC_ID:11 NCBITaxon:326424 ncbi_taxonomy Frankia alni str. ACN14a Frankia alni strain ACN14a Lactobacillus helveticus CNRZ32 Class imported / merged by efoimporter GC_ID:11 Lactobacillus helveticus str. CNRZ32 Lactobacillus helveticus strain CNRZ32 NCBITaxon:326425 ncbi_taxonomy Lactobacillus helveticus strain CNRZ32 Lactobacillus helveticus str. CNRZ32 Bifidobacterium breve UCC2003 Bifidobacterium breve NCIMB 8807 Bifidobacterium breve NCIMB8807 Bifidobacterium breve str. UCC2003 Bifidobacterium breve strain UCC2003 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:326426 ncbi_taxonomy Bifidobacterium breve NCIMB8807 Bifidobacterium breve str. UCC2003 Bifidobacterium breve NCIMB 8807 Bifidobacterium breve strain UCC2003 Streptopelia risoria Class imported / merged by efoimporter GC_ID:1 NCBITaxon:328808 ncbi_taxonomy Ralstonia pickettii Burkholderia pickettii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:329 Pseudomonas pickettii ncbi_taxonomy Burkholderia pickettii Pseudomonas pickettii Bartonella grahamii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:33045 ncbi_taxonomy Sulfolobus acidocaldarius DSM 639 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:330779 Sulfolobus acidocaldarius ATCC 33909 Sulfolobus acidocaldarius NCIB 11770 ncbi_taxonomy Sulfolobus acidocaldarius NCIB 11770 Sulfolobus acidocaldarius ATCC 33909 Entamoeba invadens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:33085 ncbi_taxonomy Aspergillus fumigatus Af293 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:330879 ncbi_taxonomy Viridiplantae James Malone Viridiplantae are a clade comprising the green algae and land plants. green plants http://www.ebi.ac.uk/efo/EFO_0002633 Ginkgo biloba Class imported / merged by efoimporter GC_ID:1 Gingko biloba Ginkgo biloba f. epiphylla Ginkgo biloba var. epiphylla NCBITaxon:3311 ginkgo maidenhair tree ncbi_taxonomy Ginkgo biloba var. epiphylla maidenhair tree ginkgo Ginkgo biloba f. epiphylla Gingko biloba Lepidium sativum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:33125 ncbi_taxonomy Saccharomyces cerevisiae x Saccharomyces kudriavzevii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:332112 ncbi_taxonomy Larix laricina American larch Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3326 ncbi_taxonomy tamarack tamarack American larch Picea abies Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3329 Norway spruce Picea abies L., Karst Picea excelsa Pinus abies ncbi_taxonomy Norway spruce Picea abies L., Karst Picea excelsa Pinus abies Picea glauca Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3330 ncbi_taxonomy white spruce white spruce Picea sitchensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3332 Sitka spruce ncbi_taxonomy Sitka spruce Picea mariana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3335 black spruce ncbi_taxonomy black spruce Pinus radiata Class imported / merged by efoimporter GC_ID:1 Monterey pine NCBITaxon:3347 ncbi_taxonomy Monterey pine Pinus strobus Class imported / merged by efoimporter Eastern white pine GC_ID:1 NCBITaxon:3348 ncbi_taxonomy Eastern white pine Pinus sylvestris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3349 Scotch pine Scots pine ncbi_taxonomy Scots pine Scotch pine Candidatus Pelagibacter ubique HTCC1062 Candidatus Pelagibacter ubique str. HTCC1062 Candidatus Pelagibacter ubique strain HTCC1062 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:335992 Pelagibacter ubique HTCC1062 ncbi_taxonomy Pelagibacter ubique HTCC1062 Candidatus Pelagibacter ubique strain HTCC1062 Candidatus Pelagibacter ubique str. HTCC1062 Cafeteria roenbergensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:33653 ncbi_taxonomy Kyasanur forest disease virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:33743 ncbi_taxonomy Vibrio harveyi ATCC BAA-1116 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:338187 Vibrio [harveyi] ATCC BAA-1116 Vibrio campbellii ATCC BAA-1116 Vibrio harveyi BB120 Vibrio harveyi str. ATCC BAA-1116 Vibrio harveyi strain ATCC BAA-1116 ncbi_taxonomy Vibrio harveyi str. ATCC BAA-1116 Vibrio campbellii ATCC BAA-1116 Vibrio harveyi BB120 Vibrio harveyi strain ATCC BAA-1116 Vibrio [harveyi] ATCC BAA-1116 environmental samples Class imported / merged by efoimporter GC_ID:1 NCBITaxon:33858 ncbi_taxonomy Mycobacterium bovis BCG BCG Class imported / merged by efoimporter GC_ID:11 Mycobacterium tuberculosis var. bovis BCG NCBITaxon:33892 bacillus Calmette-Guerin bacillus Calmette-Guerin BCG ncbi_taxonomy Mycobacterium tuberculosis var. bovis BCG bacillus Calmette-Guerin BCG bacillus Calmette-Guerin BCG Streptomyces avermitilis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:33903 Streptomyces avermectinius Streptomyces avermectinius Takahashi et al. 2002 Streptomyces avermitilis Streptomyces avermitilis (ex Burg et al. 1979) Kim and Goodfellow 2002 ncbi_taxonomy Streptomyces avermectinius Takahashi et al. 2002 NCBITaxonRef:Burg_et_al._1979 Streptomyces avermitilis Streptomyces avermectinius Streptomyces avermitilis (ex Burg et al. 1979) Kim and Goodfellow 2002 Lactobacillus johnsonii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:33959 ncbi_taxonomy Leuconostoc citreum Class imported / merged by efoimporter GC_ID:11 Leuconostoc amelibiosum Leuconostoc amelobiosum NCBITaxon:33964 ncbi_taxonomy Leuconostoc amelobiosum Leuconostoc amelibiosum Leuconostoc pseudomesenteroides Class imported / merged by efoimporter GC_ID:11 NCBITaxon:33968 ncbi_taxonomy Myxococcus xanthus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:34 ncbi_taxonomy Xanthomonas campestris pv. campestris Class imported / merged by efoimporter GC_ID:11 NCBITaxon:340 Xanthomonas campestris (pv. campestris) Xanthomonas campestris campestris ncbi_taxonomy Xanthomonas campestris (pv. campestris) Xanthomonas campestris campestris Actinobacillus pleuropneumoniae serovar 2 Actinobacillus pleuropneumoniae 2 Actinobacillus pleuropneumoniae serotype 2 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:34063 ncbi_taxonomy Actinobacillus pleuropneumoniae 2 Actinobacillus pleuropneumoniae serotype 2 Liriodendron tulipifera Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3415 ncbi_taxonomy Aloe vera Aloe barbadensi Aloe barbadensis Barbados aloe Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34199 acibar aloe-vera babosa ncbi_taxonomy Aloe barbadensis acibar Barbados aloe babosa Aloe barbadensi aloe-vera Magnetospirillum magneticum AMB-1 Class imported / merged by efoimporter GC_ID:11 Magnetospirillum magneticum str. AMB-1 Magnetospirillum magneticum strain AMB-1 Magnetospirillum sp. (strain AMB-1) Magnetospirillum sp. AMB-1 NCBITaxon:342108 ncbi_taxonomy Magnetospirillum sp. (strain AMB-1) Magnetospirillum magneticum strain AMB-1 Magnetospirillum sp. AMB-1 Magnetospirillum magneticum str. AMB-1 Ralstonia solanacearum UW551 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:342110 Ralstonia solanacearum str. UW551 Ralstonia solanacearum strain UW551 ncbi_taxonomy Ralstonia solanacearum str. UW551 Ralstonia solanacearum strain UW551 Zinnia violacea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34245 Zinnia elegans Zinnia violacea Cav. garden zinnia ncbi_taxonomy garden zinnia Zinnia violacea Cav. Zinnia elegans Gossypium herbaceum Arabian cotton Class imported / merged by efoimporter GC_ID:1 Gossypium herbaceum L. Gossypium herbacium NCBITaxon:34274 ncbi_taxonomy Gossypium herbacium Arabian cotton Gossypium herbaceum L. Gossypium mustelinum Class imported / merged by efoimporter GC_ID:1 Gossypium mustelinum Miers ex G.Watt NCBITaxon:34275 ncbi_taxonomy Gossypium mustelinum Miers ex G.Watt Gossypium darwinii Class imported / merged by efoimporter GC_ID:1 Gossypium darwinii G.Watt NCBITaxon:34276 ncbi_taxonomy Gossypium darwinii G.Watt Gossypium tomentosum Class imported / merged by efoimporter GC_ID:1 Gossypium tomentosum Nutt. ex Seem. NCBITaxon:34277 ncbi_taxonomy Gossypium tomentosum Nutt. ex Seem. Gossypium longicalyx Class imported / merged by efoimporter GC_ID:1 Gossypium longicalyx J.B.Hutch. & B.J.S.Lee NCBITaxon:34280 ncbi_taxonomy Gossypium longicalyx J.B.Hutch. & B.J.S.Lee Lotus japonicus Class imported / merged by efoimporter GC_ID:1 Lotus corniculatus var. japonicus NCBITaxon:34305 ncbi_taxonomy Lotus corniculatus var. japonicus Eucalyptus globulus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34317 blue gum ncbi_taxonomy blue gum Persea americana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3435 Persea americanum avocado ncbi_taxonomy Persea americanum avocado Trichophyton schoenleinii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34386 ncbi_taxonomy Trichophyton violaceum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34388 ncbi_taxonomy Epidermophyton floccosum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34391 ncbi_taxonomy Populus maximowiczii x Populus nigra Class imported / merged by efoimporter GC_ID:1 NCBITaxon:343990 ncbi_taxonomy Strongyloides ratti Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34506 ncbi_taxonomy Teleopsis thaii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:346187 Teleopsis sp. Thailand Teleopsis thaii Foldvari & Carr, 2007 ncbi_taxonomy Teleopsis thaii Foldvari & Carr, 2007 Teleopsis sp. Thailand Dermacentor andersoni Class imported / merged by efoimporter GC_ID:1 NCBITaxon:34620 ncbi_taxonomy Eschscholzia californica California poppy Class imported / merged by efoimporter Eschscholtzia californica Eschscholzia californica Cham. Eschscholzia californica subsp. mexicana (Greene) C.Clark Eschscholzia mexicana Greene GC_ID:1 NCBITaxon:3467 ncbi_taxonomy Eschscholzia californica Cham. California poppy Eschscholtzia californica Eschscholzia mexicana Greene Eschscholzia californica subsp. mexicana (Greene) C.Clark Papaver somniferum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3469 Papaver somniferum L. ncbi_taxonomy opium poppy opium poppy Papaver somniferum L. Rhizobium etli CFN 42 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:347834 Rhizobium etli CFN42 Rhizobium etli str. CFN 42 Rhizobium etli strain CFN 42 ncbi_taxonomy Rhizobium etli str. CFN 42 Rhizobium etli strain CFN 42 Rhizobium etli CFN42 Cannabis sativa Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3483 hemp marijuana ncbi_taxonomy marijuana hemp Humulus lupulus Class imported / merged by efoimporter European hop GC_ID:1 NCBITaxon:3486 common hop ncbi_taxonomy common hop European hop Lactobacillus reuteri 100-23 Class imported / merged by efoimporter GC_ID:11 Lactobacillus reuteri str. 100-23 Lactobacillus reuteri strain 100-23 NCBITaxon:349123 ncbi_taxonomy Lactobacillus reuteri str. 100-23 Lactobacillus reuteri strain 100-23 Desulfotomaculum reducens MI-1 Class imported / merged by efoimporter Desulfotomaculum reducens str. MI-1 Desulfotomaculum reducens strain MI-1 GC_ID:11 NCBITaxon:349161 ncbi_taxonomy Desulfotomaculum reducens strain MI-1 Desulfotomaculum reducens str. MI-1 Betula pendula Betula pendula Roth Betula verrucosa Class imported / merged by efoimporter European white birch GC_ID:1 NCBITaxon:3505 ncbi_taxonomy white birch Betula verrucosa Betula pendula Roth white birch European white birch Thalassiosira pseudonana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:35128 ncbi_taxonomy Ptomaphagus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:351534 ncbi_taxonomy Alnus glutinosa Alnus gluticosa Alnus glutinosa (L.) Gaertn. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3517 ncbi_taxonomy Alnus glutinosa (L.) Gaertn. Alnus gluticosa Sphingomonas sp. NM05 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:352164 Sphingomonas sp. 05 ncbi_taxonomy Sphingomonas sp. 05 Casuarina glauca Casuarina glauca Sieber ex Spreng. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3522 ncbi_taxonomy swamp oak swamp oak Casuarina glauca Sieber ex Spreng. Populus fremontii x Populus angustifolia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:352374 ncbi_taxonomy California encephalitis virus California bunyavirus group California encephalitis virus group California serogroup California virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:35305 ncbi_taxonomy California serogroup California encephalitis virus group California virus California bunyavirus group Bluetongue virus 2 BTV-2 Bluetongue virus type 2 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:35328 bluetongue virus BTV 2 ncbi_taxonomy BTV-2 Bluetongue virus type 2 bluetongue virus BTV 2 Campylobacter jejuni subsp. jejuni 81-176 Campylobacter jejuni subsp. jejuni str. 81-176 Campylobacter jejuni subsp. jejuni strain 81-176 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:354242 ncbi_taxonomy Campylobacter jejuni subsp. jejuni strain 81-176 Campylobacter jejuni subsp. jejuni str. 81-176 Daphnia pulicaria Class imported / merged by efoimporter GC_ID:1 NCBITaxon:35523 ncbi_taxonomy Daphnia magna Class imported / merged by efoimporter GC_ID:1 NCBITaxon:35525 ncbi_taxonomy Geobacter sulfurreducens Class imported / merged by efoimporter GC_ID:11 NCBITaxon:35554 ncbi_taxonomy Spinacia oleracea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3562 Spinacea oleracea Spinacia oleracea L Spinacia oleracea0 ncbi_taxonomy spinach spinach oleracea Spinacea oleracea Spinacia oleracea L spinach spinach oleracea Spinacia oleracea0 Agrobacterium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:357 Polymonas ncbi_taxonomy Polymonas Lactobacillus pontis Class imported / merged by efoimporter GC_ID:11 Lactobacillus pontis Vogel et al. 1994 NCBITaxon:35787 ncbi_taxonomy Lactobacillus pontis Vogel et al. 1994 Agrobacterium tumefaciens Achromobacter radiobacter Agrobacterium biovar 1 Agrobacterium radiobacter Agrobacterium tumefacien Alcaligenes radiobacter Bacillus radiobacter Bacterium radiobacter Bacterium tumefaciens Class imported / merged by efoimporter GC_ID:11 NCBITaxon:358 Phytomonas tumefaciens Polymonas tumefaciens Pseudomonas radiobacter Pseudomonas tumefaciens Rhizobium radiobacter ncbi_taxonomy Alcaligenes radiobacter Agrobacterium radiobacter Achromobacter radiobacter Bacterium tumefaciens Pseudomonas tumefaciens Agrobacterium tumefacien Phytomonas tumefaciens Pseudomonas radiobacter Polymonas tumefaciens Bacterium radiobacter Bacillus radiobacter Agrobacterium biovar 1 Rhizobium radiobacter Bordetella holmesii Bordetella holmesii Weyant et al. 1995 CDC nonoxidizer group 2 (NO-2) Class imported / merged by efoimporter GC_ID:11 NCBITaxon:35814 ncbi_taxonomy CDC nonoxidizer group 2 (NO-2) Bordetella holmesii Weyant et al. 1995 uncultured microorganism Class imported / merged by efoimporter GC_ID:11 NCBITaxon:358574 ncbi_taxonomy Lagopus lagopus scotica Class imported / merged by efoimporter GC_ID:1 Lagopus lagopus scoticus Lagopus scoticus NCBITaxon:359986 ncbi_taxonomy Lagopus lagopus scoticus Lagopus scoticus Xanthomonas oryzae pv. oryzae PXO99A Class imported / merged by efoimporter GC_ID:11 NCBITaxon:360094 Xanthomonas oryzae pv. oryzae PX099A Xanthomonas oryzae pv. oryzae str. PXO99A Xanthomonas oryzae pv. oryzae strain PXO99A ncbi_taxonomy Xanthomonas oryzae pv. oryzae strain PXO99A Xanthomonas oryzae pv. oryzae str. PXO99A Xanthomonas oryzae pv. oryzae PX099A Vitis aestivalis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3605 Vitis aestivalis Michx. ncbi_taxonomy Vitis aestivalis Michx. Mucor circinelloides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:36080 Rhizomucor circinelloides ncbi_taxonomy Rhizomucor circinelloides Roseburia inulinivorans Class imported / merged by efoimporter GC_ID:11 NCBITaxon:360807 ncbi_taxonomy Globodera pallida Class imported / merged by efoimporter GC_ID:1 NCBITaxon:36090 ncbi_taxonomy Gyps fulvus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:36247 ncbi_taxonomy Plasmodium falciparum 3D7 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:36329 PLASMODIUM FALCIPARUM (ISOLATE 3D7). Plasmodium falciparum (isolate 3D7) ncbi_taxonomy PLASMODIUM FALCIPARUM (ISOLATE 3D7). Plasmodium falciparum (isolate 3D7) Gossypium barbadense Class imported / merged by efoimporter Egyptian cotton GC_ID:1 Gossypium barbadense L. NCBITaxon:3634 ncbi_taxonomy sea-island cotton Gossypium barbadense L. Egyptian cotton sea-island cotton Gossypium hirsutum American cotton Class imported / merged by efoimporter GC_ID:1 Gossypium hirsutum subsp. mexicanum Gossypium lanceolatum Gossypium purpurascens NCBITaxon:3635 cotton ncbi_taxonomy upland cotton upland cotton Gossypium purpurascens Gossypium lanceolatum American cotton cotton Gossypium hirsutum subsp. mexicanum Theobroma cacao Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3641 cacao cocoa ncbi_taxonomy cacao cocoa Escherichia coli UTI89 Class imported / merged by efoimporter Escherichia coli str. UTI89 Escherichia coli strain UTI89 GC_ID:11 NCBITaxon:364106 ncbi_taxonomy Escherichia coli str. UTI89 Escherichia coli strain UTI89 Granulibacter bethesdensis Class imported / merged by efoimporter GC_ID:11 Granulobacter bethesdensis NCBITaxon:364410 ncbi_taxonomy Granulobacter bethesdensis Streptococcus sp. 'group A' Class imported / merged by efoimporter GC_ID:11 NCBITaxon:36470 Streptococcus sp. (group A) group A streptococci group A streptococcus ncbi_taxonomy group A streptococcus Streptococcus sp. (group A) group A streptococci Carica papaya Carica papaya L. Carica payaya Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3649 mamon ncbi_taxonomy papaya papaya Carica papaya L. mamon Carica payaya Citrullus lanatus Citrullus lanatus (Thunb.) Matsum. & Nakai Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3654 ncbi_taxonomy wild melon Citrullus lanatus (Thunb.) Matsum. & Nakai wild melon Cucumis melo Class imported / merged by efoimporter Cucumis melo var. markuwa Markino Cucurbita melo L. GC_ID:1 NCBITaxon:3656 Oriental melon muskmelon ncbi_taxonomy muskmelon Oriental melon Cucumis melo var. markuwa Markino Cucurbita melo L. Cucumis sativus Class imported / merged by efoimporter Cucumis sativu Cucumis sativus L. GC_ID:1 NCBITaxon:3659 cucumber cucumbers ncbi_taxonomy Cucumis sativus L. cucumber Cucumis sativu cucumbers Cucurbita maxima Boston marrow Class imported / merged by efoimporter Cucurbita maxima Duchesne GC_ID:1 NCBITaxon:3661 great pumpkin ncbi_taxonomy winter squash Cucurbita maxima Duchesne great pumpkin Boston marrow winter squash Neosartorya fischeri Aspergillus fischeri Aspergillus fischerianus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:36630 Neosartorya fischeri var. fischeri ncbi_taxonomy Aspergillus fischeri Aspergillus fischerianus Neosartorya fischeri var. fischeri Staphylococcus aureus subsp. aureus USA300 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:367830 Staphylococcus aureus subsp. aureus str. USA300 Staphylococcus aureus subsp. aureus strain USA300 ncbi_taxonomy Staphylococcus aureus subsp. aureus strain USA300 Staphylococcus aureus subsp. aureus str. USA300 Populus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3689 Populus L. ncbi_taxonomy poplar poplar trees poplars poplar trees poplar poplars Populus L. Populus nigra Class imported / merged by efoimporter GC_ID:1 Lombardy poplar NCBITaxon:3691 Populas nigra Populus nigra L. Populus nigra var. italica Populus nigras black poplar ncbi_taxonomy Lombardy poplar Populas nigra Populus nigras black poplar Populus nigra var. italica Populus nigra L. Populus tremuloides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3693 Populus tremuloides Michx. ncbi_taxonomy quaking aspen Populus tremuloides Michx. quaking aspen Populus trichocarpa Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3694 Populus balsamifera subsp. trichocarpa Populus balsamifera subsp. trichocarpa (Torr. et A.Gray) Brayshaw Populus trichocarpa Torr. & A.Gray Populus trichocarpa Torr. et A.Gray black cottonwood ncbi_taxonomy western balsam poplar black cottonwood Populus trichocarpa Torr. & A.Gray Populus balsamifera subsp. trichocarpa western balsam poplar Populus trichocarpa Torr. et A.Gray Populus balsamifera subsp. trichocarpa (Torr. et A.Gray) Brayshaw Populus trichocarpa x Populus deltoides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3695 Populus balsamifera subsp. trichocarpa x Populus deltoides Populus deltoides x Populus balsamifera subsp. trichocarpa Populus deltoides x Populus trichocarpa Populus x generosa Populus x interamericana Populus x interamericana ined. ncbi_taxonomy Populus deltoides x Populus balsamifera subsp. trichocarpa Populus deltoides x Populus trichocarpa Populus x interamericana ined. Populus x interamericana Populus x generosa Populus balsamifera subsp. trichocarpa x Populus deltoides Populus deltoides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3696 Populus deltoides W.Bartram ex Marshall ncbi_taxonomy Populus deltoides W.Bartram ex Marshall Arabidopsis Cardaminopsis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3701 ncbi_taxonomy Cardaminopsis Pan troglodytes troglodytes Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37011 ncbi_taxonomy Arabidopsis thaliana Arabidopsis thaliana (thale cress) Arbisopsis thaliana Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:3702 mouse-ear cress ncbi_taxonomy thale cress thale-cress Arabidopsis thaliana (thale cress) mouse-ear cress Arbisopsis thaliana thale-cress thale cress Brassica juncea Class imported / merged by efoimporter GC_ID:1 Indian mustard NCBITaxon:3707 brown mustard ncbi_taxonomy Indian mustard brown mustard Brassica napus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3708 ncbi_taxonomy oilseed rape rape rapeseeds oilseed rape rapeseeds rape Isochrysis galbana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37099 ncbi_taxonomy Brassica rapa Brassica rapa L. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3711 field mustard ncbi_taxonomy Brassica rapa L. field mustard Brassica oleracea Brassica oleracea L. Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:3712 ncbi_taxonomy Brassica oleracea L. Capsella bursa-pastoris Capsella bursapastoris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3719 ncbi_taxonomy shepherd's purse Capsella bursapastoris shepherd's purse Matthiola incana Class imported / merged by efoimporter GC_ID:1 Matthiola incana (L.) R.Br. NCBITaxon:3724 common stock ncbi_taxonomy Matthiola incana (L.) R.Br. common stock Human herpesvirus 8 Class imported / merged by efoimporter GC_ID:1 HHV8 Human herpesvirus 8 type P KSHV Kaposi's sarcoma-associated herpes-like virus Kaposi's sarcoma-associated herpesvirus Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8 Kaposi's sarcoma-associated herpesvirus KSHV Kaposi's sarcoma-associated human herpes virus Karposi's sarcoma-associated herpes-like virus NCBITaxon:37296 ncbi_taxonomy Kaposi's sarcoma-associated herpesvirus KSHV KSHV HHV8 Karposi's sarcoma-associated herpes-like virus Kaposi's sarcoma-associated herpesvirus - Human herpesvirus 8 Human herpesvirus 8 type P Kaposi's sarcoma-associated herpesvirus Kaposi's sarcoma-associated human herpes virus Kaposi's sarcoma-associated herpes-like virus Picea engelmannii x Picea glauca Class imported / merged by efoimporter GC_ID:1 NCBITaxon:373101 ncbi_taxonomy Streptococcus pneumoniae D39 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:373153 Streptococcus pneumoniae str. D39 Streptococcus pneumoniae strain D39 ncbi_taxonomy Streptococcus pneumoniae str. D39 Streptococcus pneumoniae strain D39 Fragaria x ananassa Class imported / merged by efoimporter Fragaria ananassa Fragaria chiloensis x Fragaria virginiana Fragaria virginiana x Fragaria chiloensis GC_ID:1 NCBITaxon:3747 ncbi_taxonomy strawberry Fragaria ananassa Fragaria virginiana x Fragaria chiloensis strawberry Fragaria chiloensis x Fragaria virginiana Euphorbia pulcherrima Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37495 ncbi_taxonomy poinsettia poinsettia Bradyrhizobium japonicum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:375 Rhizobacterium japonicum Rhizobium japonicum ncbi_taxonomy Rhizobacterium japonicum Rhizobium japonicum Malus x domestica Class imported / merged by efoimporter GC_ID:1 Malus domestica Malus pumila auct. Malus pumila var. domestica Malus sylvestris var. domestica NCBITaxon:3750 Pyrus malus apple apple tree cultivated apple ncbi_taxonomy cultivated apple Malus sylvestris var. domestica Malus domestica apple tree Malus pumila auct. Pyrus malus apple Malus pumila var. domestica Synechococcus phage S-IO9 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:375033 ncbi_taxonomy Synechococcus phage S-IO17 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:375050 ncbi_taxonomy Synechococcus phage S-IO21 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:375052 ncbi_taxonomy Parabacteroides Class imported / merged by efoimporter GC_ID:11 NCBITaxon:375288 ncbi_taxonomy Prunus persica Amygdalus persica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3760 Persica vulgaris Prunus persica var densa ncbi_taxonomy peach peach Persica vulgaris Amygdalus persica Prunus persica var densa Silene latifolia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37657 ncbi_taxonomy Francisella tularensis subsp. holarctica LVS Class imported / merged by efoimporter Francisella tularensis subsp. holarctica str. LVS Francisella tularensis subsp. holarctica strain LVS GC_ID:11 NCBITaxon:376619 ncbi_taxonomy Francisella tularensis subsp. holarctica strain LVS Francisella tularensis subsp. holarctica str. LVS Pyrus pyrifolia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3767 Pyrus serotina ncbi_taxonomy sha li sha li Pyrus serotina Aegilops tauschii Aegilops squarrosa Aegilops squarrosa auct. Aegilops squarrosa subsp. squarrosa Aegilops tauschii Coss. Aegilops tauschii Cosson Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37682 Patropyrum tauschii Patropyrum tauschii subsp. tauschii Triticum tauschii ncbi_taxonomy Aegilops squarrosa Aegilops tauschii Coss. Aegilops tauschii Cosson Triticum tauschii Patropyrum tauschii subsp. tauschii Patropyrum tauschii Aegilops squarrosa auct. Aegilops squarrosa subsp. squarrosa Citrus trifoliata Citrus trifoliatus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37690 Poncirus trifoliata Poncirus trifoliate Poncirus trifoliatus hardy orange ncbi_taxonomy trifoliate orange Poncirus trifoliate Poncirus trifoliata Citrus trifoliatus Poncirus trifoliatus hardy orange trifoliate orange Anopheles gambiae S Class imported / merged by efoimporter GC_ID:1 NCBITaxon:377270 ncbi_taxonomy Prunus necrotic ringspot virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37733 PNRSV Prunus necrotic ringspot ilarvirus pnrsv ncbi_taxonomy Prunus necrotic ringspot ilarvirus pnrsv PNRSV Enterococcus casseliflavus Class imported / merged by efoimporter Enterococcus flavescens GC_ID:11 NCBITaxon:37734 Streptococcus casseliflavus Streptococcus faecium subsp. casseliflavus Streptococcus faecium var. casseliflavus ncbi_taxonomy Enterococcus flavescens Streptococcus faecium subsp. casseliflavus Streptococcus faecium var. casseliflavus Streptococcus casseliflavus Escherichia coli B Class imported / merged by efoimporter Escherichia coli (strain B) GC_ID:11 NCBITaxon:37762 ncbi_taxonomy Escherichia coli (strain B) Arabidopsis arenosa x Arabidopsis thaliana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:378006 ncbi_taxonomy Heterorhabditis bacteriophora Class imported / merged by efoimporter GC_ID:1 NCBITaxon:37862 ncbi_taxonomy Lake Victoria marburgvirus - Angola2005 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:378830 ncbi_taxonomy Lodderomyces elongisporus NRRL YB-4239 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:379508 ncbi_taxonomy Pseudomonas stutzeri A1501 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:379731 Pseudomonas stutzeri str. A1501 Pseudomonas stutzeri strain A1501 ncbi_taxonomy Pseudomonas stutzeri strain A1501 Pseudomonas stutzeri str. A1501 Drosophila sechellia x Drosophila simulans Class imported / merged by efoimporter GC_ID:1 NCBITaxon:380737 ncbi_taxonomy Influenza A virus (A/Texas/36/1991(H1N1)) Class imported / merged by efoimporter GC_ID:1 Influenza A virus (A/Texas/36/91(H1N1)) NCBITaxon:380964 ncbi_taxonomy Influenza A virus (A/Texas/36/91(H1N1)) Zea mays subsp. mays Class imported / merged by efoimporter GC_ID:1 Indian corn NCBITaxon:381124 Zea mays subsp. amylacea Zea mays subsp. ceratina Zea mays subsp. everta Zea mays subsp. indurata Zea mays subsp. ramosa Zea mays subsp. sacharata Zea mays subsp. tunicata Zea mays var. mays Zea mays var. sacharata Zea ramosa corn maize ncbi_taxonomy Zea mays subsp. ceratina Zea mays subsp. ramosa corn Zea mays var. sacharata Zea mays var. mays Zea mays subsp. indurata Zea mays subsp. tunicata Zea ramosa maize Indian corn Zea mays subsp. everta Zea mays subsp. sacharata Zea mays subsp. amylacea Ralstonia eutropha H16 Alcaligenes eutropha H16 Class imported / merged by efoimporter Cupriavidus necator ATCC 17699 Cupriavidus necator H16 GC_ID:11 NCBITaxon:381666 Ralstonia eutropha ATCC 17699 Ralstonia eutropha str. H16 Ralstonia eutropha strain H16 Wautersia eutropha H16 ncbi_taxonomy Wautersia eutropha H16 Alcaligenes eutropha H16 Ralstonia eutropha str. H16 Cupriavidus necator ATCC 17699 Ralstonia eutropha strain H16 Cupriavidus necator H16 Ralstonia eutropha ATCC 17699 Arachis hypogaea Arachis hypogea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3818 goober ground-nut ncbi_taxonomy peanut peanut Arachis hypogea ground-nut goober Sinorhizobium meliloti Class imported / merged by efoimporter Ensifer meliloti GC_ID:11 NCBITaxon:382 Rhizobium meliloti ncbi_taxonomy Ensifer meliloti Rhizobium meliloti Strelkovimermis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:382539 ncbi_taxonomy Corynebacterium jeikeium CDC coryneform group JK Class imported / merged by efoimporter Corynebacterium jeikeium Jackman et al. 1988 GC_ID:11 NCBITaxon:38289 ncbi_taxonomy Corynebacterium jeikeium Jackman et al. 1988 CDC coryneform group JK Bartonella henselae Bartonella henselae (Regnery et al. 1992) Brenner et al. 1993 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:38323 Rochalimaea henselae Rochalimaea henselae Regnery et al. 1992 ncbi_taxonomy Bartonella henselae (Regnery et al. 1992) Brenner et al. 1993 Rochalimaea henselae Regnery et al. 1992 Rochalimaea henselae Xanthomonas oryzae pv. oryzicola BLS256 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:383407 Xanthomonas oryzae pv. oryzicola str. BLS256 Xanthomonas oryzae pv. oryzicola strain BLS256 ncbi_taxonomy Xanthomonas oryzae pv. oryzicola strain BLS256 Xanthomonas oryzae pv. oryzicola str. BLS256 Rhizobium leguminosarum Bacillus francki Class imported / merged by efoimporter GC_ID:11 NCBITaxon:384 Phytomyxa leguminosarum Rhizobacterium leguminosarum Rhizobium trifoli Rhizobium trifolii Schinzia leguminosarum ncbi_taxonomy Rhizobium trifolii Rhizobium trifoli Bacillus francki Rhizobacterium leguminosarum Schinzia leguminosarum Phytomyxa leguminosarum Glycine max Class imported / merged by efoimporter GC_ID:1 Glycine max; cv. Wye NCBITaxon:3847 ncbi_taxonomy soybean soybeans soybeans Glycine max; cv. Wye soybean Glycine soja Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3848 ncbi_taxonomy wild soybean wild soybean Syntrichia ruralis Barbula ruralis Barbula ruralis Hedw. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:38588 Syntrichia ruralis (Hedw.) F.Weber & D.Mohr Tortula ruralis Tortula ruralis (Hedw.) P. Gaertn. et al. ncbi_taxonomy Tortula ruralis Tortula ruralis (Hedw.) P. Gaertn. et al. Barbula ruralis Hedw. Barbula ruralis Syntrichia ruralis (Hedw.) F.Weber & D.Mohr Escherichia coli O157:H7 str. Sakai Class imported / merged by efoimporter Escherichia coli O157:H7 strain Sakai GC_ID:11 NCBITaxon:386585 ncbi_taxonomy Escherichia coli O157:H7 strain Sakai Panicum virgatum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:38727 ncbi_taxonomy switchgrass switchgrass Lagos bat virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:38766 ncbi_taxonomy Duvenhage virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:38767 ncbi_taxonomy Arabidopsis arenosa Arabis arenosa Cardaminopsis arenosa Class imported / merged by efoimporter GC_ID:1 NCBITaxon:38785 ncbi_taxonomy Arabis arenosa Cardaminopsis arenosa Medicago sativa Class imported / merged by efoimporter GC_ID:1 Medicago sativa subsp. sativa NCBITaxon:3879 alfalfa lucerne ncbi_taxonomy alfalfa Medicago sativa subsp. sativa lucerne Medicago truncatula Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3880 barrel medic ncbi_taxonomy barrel medic Gephyrocapsa oceanica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:38817 ncbi_taxonomy Phaseolus vulgaris Class imported / merged by efoimporter French bean GC_ID:1 NCBITaxon:3885 kidney bean ncbi_taxonomy string bean string bean kidney bean French bean Phaseolus coccineus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3886 Phaseolus multiflorus ncbi_taxonomy scarlet runner bean scarlet runner bean Phaseolus multiflorus Pisum sativum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3888 Pisum sativum L. garden pea ncbi_taxonomy pea peas peas Pisum sativum L. pea garden pea Streptococcus sanguinis SK36 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:388919 Streptococcus sanguinis str. SK36 Streptococcus sanguinis strain SK36 ncbi_taxonomy Streptococcus sanguinis str. SK36 Streptococcus sanguinis strain SK36 Trifolium repens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3899 Trifolium repens L. creeping white clover ncbi_taxonomy white clover Trifolium repens L. white clover creeping white clover Pantherophis obsoletus Class imported / merged by efoimporter Eastern rat snake Elaphe obsoleta GC_ID:1 NCBITaxon:39099 ncbi_taxonomy rat snake Eastern rat snake rat snake Elaphe obsoleta Vicia narbonensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3912 ncbi_taxonomy Geobacillus sp. E263 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:391290 ncbi_taxonomy Streptococcus suis 05ZYH33 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:391295 Streptococcus suis str. 05ZYH33 Streptococcus suis strain 05ZYH33 ncbi_taxonomy Streptococcus suis str. 05ZYH33 Streptococcus suis strain 05ZYH33 Methanococcus maripaludis Class imported / merged by efoimporter GC_ID:11 Methanococcus deltae NCBITaxon:39152 ncbi_taxonomy Methanococcus deltae Vigna unguiculata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3917 Phaseolus unguiculatus cowpea ncbi_taxonomy cowpea Phaseolus unguiculatus Vigna unguiculata subsp. unguiculata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3920 Vigna sinensis Vigna unguiculata Unguiculata Group Vigna unguiculata subsp. unguiculata (Unguiculata Group) Vigna unguiculata subsp. unguiculata Unguiculata Group cowpea ncbi_taxonomy Vigna unguiculata subsp. unguiculata (Unguiculata Group) cowpea Vigna unguiculata Unguiculata Group Vigna unguiculata subsp. unguiculata Unguiculata Group Vigna sinensis Sphingomonas wittichii RW1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:392499 Sphingomonas sp. RW1 Sphingomonas wittichii DSM 6014 Sphingomonas wittichii str. RW1 Sphingomonas wittichii strain RW1 ncbi_taxonomy Sphingomonas wittichii str. RW1 Sphingomonas wittichii DSM 6014 Sphingomonas wittichii strain RW1 Sphingomonas sp. RW1 Athelia rolfsii Athelia rolfsii (Curzi) C.C.Tu et Kimbr. Class imported / merged by efoimporter Corticium rolfsii Corticium rolfsii Curzi GC_ID:1 NCBITaxon:39291 Sclerotium rolfsii ncbi_taxonomy Corticium rolfsii Curzi Sclerotium rolfsii Athelia rolfsii (Curzi) C.C.Tu et Kimbr. Corticium rolfsii Listeria monocytogenes FSL J1-208 Class imported / merged by efoimporter GC_ID:11 Listeria monocytogenes str. FSL J1-208 Listeria monocytogenes strain FSL J1-208 NCBITaxon:393119 ncbi_taxonomy Listeria monocytogenes strain FSL J1-208 Listeria monocytogenes str. FSL J1-208 Listeria monocytogenes FSL J2-071 Class imported / merged by efoimporter GC_ID:11 Listeria monocytogenes str. FSL J2-071 Listeria monocytogenes strain FSL J2-071 NCBITaxon:393121 ncbi_taxonomy Listeria monocytogenes strain FSL J2-071 Listeria monocytogenes str. FSL J2-071 Listeria monocytogenes J0161 Class imported / merged by efoimporter GC_ID:11 Listeria monocytogenes str. J0161 Listeria monocytogenes strain J0161 NCBITaxon:393130 ncbi_taxonomy Listeria monocytogenes strain J0161 Listeria monocytogenes str. J0161 Listeria monocytogenes 10403S Class imported / merged by efoimporter GC_ID:11 Listeria monocytogenes str. 10403S Listeria monocytogenes strain 10403S NCBITaxon:393133 ncbi_taxonomy Listeria monocytogenes str. 10403S Listeria monocytogenes strain 10403S Tuber melanosporum Class imported / merged by efoimporter French truffle GC_ID:1 NCBITaxon:39416 Perigord truffle black truffle ncbi_taxonomy black truffle Perigord truffle French truffle Mus musculus musculus Class imported / merged by efoimporter GC_ID:1 James Malone Mus musculus hortulanus NCBITaxon:39442 eastern European house mouse ncbi_taxonomy eastern European house mouse Mus musculus hortulanus Eubacterium rectale 'Roseburia rectale' Bacteroides rectalis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:39491 Pseudobacterium rectale Roseburia rectale [Eubacterium] rectale ncbi_taxonomy Pseudobacterium rectale Bacteroides rectalis 'Roseburia rectale' Roseburia rectale [Eubacterium] rectale Mayetiola destructor Class imported / merged by efoimporter GC_ID:1 Hessian fly NCBITaxon:39758 ncbi_taxonomy Hessian fly Manihot esculenta Class imported / merged by efoimporter GC_ID:1 Manihot esculenta Crantz Manihot esculenta0 Manihot utilissima NCBITaxon:3983 cassava manioc ncbi_taxonomy tapioca yuca Manihot esculenta Crantz manioc Manihot esculenta0 yuca Manihot utilissima tapioca cassava Dinoroseobacter shibae DFL 12 Class imported / merged by efoimporter Dinoroseobacter shibae str. DFL 12 Dinoroseobacter shibae strain DFL 12 GC_ID:11 Jannaschia sp. DFL-12 NCBITaxon:398580 ncbi_taxonomy Dinoroseobacter shibae str. DFL 12 Jannaschia sp. DFL-12 Dinoroseobacter shibae strain DFL 12 Ricinus communis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3988 Ricimus communis Ricinis communis Ricinus communis L. Ricinus comunis Ricinus sanguineus Ricinus sanguineus hort. ex Groenl. castor bean ncbi_taxonomy castor bean Ricinus sanguineus hort. ex Groenl. Ricimus communis Ricinus communis L. Ricinus comunis Ricinus sanguineus Ricinis communis Euphorbia esula Class imported / merged by efoimporter GC_ID:1 NCBITaxon:3993 leafy spurge ncbi_taxonomy wolf's milk leafy spurge wolf's milk Oryza sativa Indica Group Class imported / merged by efoimporter GC_ID:1 Indian rice NCBITaxon:39946 Oryza sativa (indica cultivar-group) Oryza sativa (indica group) Oryza sativa indica Oryza sativa subsp. indica ncbi_taxonomy Oryza sativa subsp. indica Oryza sativa indica Oryza sativa (indica cultivar-group) Oryza sativa (indica group) Indian rice Oryza sativa Japonica Group Class imported / merged by efoimporter GC_ID:1 Japanese rice NCBITaxon:39947 Oryza sativa (japonica culticar-group) Oryza sativa (japonica cultivar-group) Oryza sativa japonica Oryza sativa subsp. japonica ncbi_taxonomy Oryza sativa japonica Oryza sativa (japonica cultivar-group) Oryza sativa subsp. japonica Oryza sativa (japonica culticar-group) Japanese rice Thermoanaerobacter sp. X514 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:399726 Thermoanaerobacter ethanolicus X514 ncbi_taxonomy Thermoanaerobacter ethanolicus X514 Bruguiera gymnorhiza Bruguiera gymnorhiza (L.) Savigny Bruguiera gymnorrhiza Bruguiera gymnorrhizza Burma mangrove Class imported / merged by efoimporter GC_ID:1 NCBITaxon:39984 ncbi_taxonomy Bruguiera gymnorrhiza Bruguiera gymnorhiza (L.) Savigny Burma mangrove Bruguiera gymnorrhizza Linum usitatissimum Class imported / merged by efoimporter GC_ID:1 Linum usitatissimum L. NCBITaxon:4006 flax ncbi_taxonomy Linum usitatissimum L. flax Amphimedon queenslandica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:400682 Reniera sp. JGI-2005 ncbi_taxonomy Reniera sp. JGI-2005 Neurospora tetrasperma Class imported / merged by efoimporter GC_ID:1 NCBITaxon:40127 ncbi_taxonomy Penicillium italicum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:40296 ncbi_taxonomy Stenotrophomonas maltophilia Class imported / merged by efoimporter GC_ID:11 NCBITaxon:40324 Pseudomonas beteli Pseudomonas betle Pseudomonas maltiphilia Pseudomonas maltophila Pseudomonas maltophilia Stenotrophomonas africae Stenotrophomonas africana Stenotrophomonas maltophila Xanthomonas maltiphilia Xanthomonas maltophilia ncbi_taxonomy Pseudomonas maltophilia Xanthomonas maltophilia Stenotrophomonas africana Xanthomonas maltiphilia Pseudomonas betle Stenotrophomonas africae Stenotrophomonas maltophila Pseudomonas maltophila Pseudomonas beteli Pseudomonas maltiphilia Drosophila montana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:40370 ncbi_taxonomy Cryptococcus neoformans var. neoformans Class imported / merged by efoimporter Cryptococcus neoformans serotype D Filobasidiella neoformans var. neoformans GC_ID:1 NCBITaxon:40410 ncbi_taxonomy Cryptococcus neoformans serotype D Filobasidiella neoformans var. neoformans Panax ginseng Chinese ginseng Class imported / merged by efoimporter GC_ID:1 Korean ginseng NCBITaxon:4054 ginseng hong shen insam ncbi_taxonomy ninjin ren seng Chinese ginseng hong shen ginseng insam ren seng ninjin Korean ginseng Bacillus cereus G9842 Bacillus cereus str. G9842 Bacillus cereus strain G9842 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:405531 ncbi_taxonomy Bacillus cereus strain G9842 Bacillus cereus str. G9842 Lactobacillus helveticus DPC 4571 Class imported / merged by efoimporter GC_ID:11 Lactobacillus helveticus DPC4571 Lactobacillus helveticus str. DPC 4571 Lactobacillus helveticus strain DPC 4571 NCBITaxon:405566 ncbi_taxonomy Lactobacillus helveticus DPC4571 Lactobacillus helveticus str. DPC 4571 Lactobacillus helveticus strain DPC 4571 Salix viminalis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:40686 Salix viminalis L. basket willow common osier ncbi_taxonomy osier common osier basket willow osier Salix viminalis L. Capsicum annuum Capsicum annuum L. Capsicum annuum var. conoide Capsicum annuum var. conoides Capsicum capsicum Capsicum conoide Capsicum conoides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4072 ncbi_taxonomy Capsicum annuum var. conoides Capsicum conoides Capsicum annuum L. Capsicum annuum var. conoide Capsicum conoide Capsicum capsicum Methylobacterium extorquens Bacillus extorquens Class imported / merged by efoimporter Flavobacterium extorquens GC_ID:11 Methylobacterium dichloromethanicum Methylobacterium diclorometanicum NCBITaxon:408 Protomonas extorquens Pseudomonas extorquens Vibrio extorquens ncbi_taxonomy Protomonas extorquens Vibrio extorquens Flavobacterium extorquens Bacillus extorquens Methylobacterium diclorometanicum Pseudomonas extorquens Methylobacterium dichloromethanicum Solanum lycopersicum Class imported / merged by efoimporter GC_ID:1 Lycopersicon esculentum Lycopersicon esculentum Mill. Lycopersicon esculentum var. esculentum Lycopersicon lycopersicum Lycopersicum esculentum NCBITaxon:4081 Solanum esculentum Solanum esculentum Dunal Solanum lycopersicon Solanum lycopersicum L. ncbi_taxonomy tomato Lycopersicon esculentum Lycopersicum esculentum Lycopersicon esculentum Mill. Lycopersicon lycopersicum Lycopersicon esculentum var. esculentum Solanum lycopersicon Solanum esculentum tomato Solanum lycopersicum L. Solanum esculentum Dunal human gut metagenome Class imported / merged by efoimporter GC_ID:11 NCBITaxon:408170 human gut microbiota ncbi_taxonomy human gut microbiota marine metagenome Class imported / merged by efoimporter GC_ID:11 NCBITaxon:408172 ncbi_taxonomy ocean metagenome ocean metagenome Solanum pimpinellifolium Class imported / merged by efoimporter GC_ID:1 Lycopersicon pimpinellifolium Lycopersicon pimpinellifolium (L.) Mill. NCBITaxon:4084 Solanum pimpinellifolium L. currant tomato ncbi_taxonomy Lycopersicon pimpinellifolium Lycopersicon pimpinellifolium (L.) Mill. currant tomato Solanum pimpinellifolium L. Nicotiana tabacum American tobacco Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4097 Nicotania tabacum Nicotiana tabacum var. Samsun common tobacco ncbi_taxonomy tobacco American tobacco Nicotania tabacum tobacco Nicotiana tabacum var. Samsun common tobacco Aspergillus carbonarius Class imported / merged by efoimporter GC_ID:1 NCBITaxon:40993 ncbi_taxonomy Nicotiana benthamiana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4100 Nicotiana benthamania ncbi_taxonomy Nicotiana benthamania Petunia x hybrida Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4102 Petunia axillaris X Petunia integrifolia Petunia hybrida garden petunia ncbi_taxonomy garden petunia Petunia hybrida Petunia axillaris X Petunia integrifolia Mycobacterium bovis BCG str. Pasteur 1173P2 Class imported / merged by efoimporter GC_ID:11 Mycobacterium bovis BCG Pasteur 1173P2 Mycobacterium bovis BCG strain Pasteur 1173P2 NCBITaxon:410289 ncbi_taxonomy Mycobacterium bovis BCG Pasteur 1173P2 Mycobacterium bovis BCG strain Pasteur 1173P2 Neosartorya fennelliae Aspergillus fennelliae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:41048 ncbi_taxonomy Aspergillus fennelliae soil metagenome Class imported / merged by efoimporter GC_ID:11 NCBITaxon:410658 ncbi_taxonomy Solanum chacoense Chaco potato Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4108 Solanum chacoense Bitter ncbi_taxonomy Chaco potato Solanum chacoense Bitter Solanum tuberosum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4113 Solanum tuberosum subsp. tuberosum ncbi_taxonomy potato potatoes potato Solanum tuberosum subsp. tuberosum potatoes Ipomoea batatas Class imported / merged by efoimporter GC_ID:1 Ipomoea babatas Ipomoea batata Ipomoea batatas (L.) Lam. Ipomoea batatas var. edulis Ipomoea tiliacea auct. non (Willd.) Choisy NCBITaxon:4120 batate ncbi_taxonomy sweet potato batate sweet potato Ipomoea batatas (L.) Lam. Ipomoea batatas var. edulis Ipomoea babatas Ipomoea batata Ipomoea tiliacea auct. non (Willd.) Choisy Cucumis melo subsp. melo Class imported / merged by efoimporter GC_ID:1 NCBITaxon:412675 ncbi_taxonomy Cronobacter Class imported / merged by efoimporter GC_ID:11 NCBITaxon:413496 ncbi_taxonomy Cronobacter dublinensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:413497 ncbi_taxonomy Cronobacter muytjensii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:413501 ncbi_taxonomy Cronobacter turicensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:413502 ncbi_taxonomy Caldicellulosiruptor hydrothermalis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:413888 ncbi_taxonomy Escherichia coli B str. REL606 Class imported / merged by efoimporter Escherichia coli B (REL606 strain) Escherichia coli B str. Bc251 Escherichia coli B strain REL606 Escherichia coli str. B substr. REL606 GC_ID:11 NCBITaxon:413997 ncbi_taxonomy Escherichia coli B strain REL606 Escherichia coli B (REL606 strain) Escherichia coli B str. Bc251 Escherichia coli str. B substr. REL606 Clostridium botulinum A str. ATCC 3502 Class imported / merged by efoimporter Clostridium botulinum A strain ATCC 3502 GC_ID:11 NCBITaxon:413999 ncbi_taxonomy Clostridium botulinum A strain ATCC 3502 Eurotium chevalieri Class imported / merged by efoimporter GC_ID:1 NCBITaxon:41411 ncbi_taxonomy Pachycladon enysii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:414717 Pachycladon enysii (Cheeseman ex Kirk) Heenan & A.D.Mitch. ncbi_taxonomy Pachycladon enysii (Cheeseman ex Kirk) Heenan & A.D.Mitch. Salmonella enterica subsp. enterica serovar Typhisuis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:41529 Salmonella enterica serovar Typhisuis Salmonella typhisuis ncbi_taxonomy Salmonella typhisuis Salmonella enterica serovar Typhisuis Mimulus guttatus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4155 common monkey flower ncbi_taxonomy spotted monkey flower yellow monkey flower common monkey flower spotted monkey flower yellow monkey flower Lactococcus lactis subsp. cremoris MG1363 Class imported / merged by efoimporter GC_ID:11 Lactococcus lactis subsp. cremoris str. MG1363 Lactococcus lactis subsp. cremoris strain MG1363 NCBITaxon:416870 ncbi_taxonomy Lactococcus lactis subsp. cremoris strain MG1363 Lactococcus lactis subsp. cremoris str. MG1363 Aspergillus multicolor Class imported / merged by efoimporter GC_ID:1 NCBITaxon:41759 ncbi_taxonomy Methanobrevibacter smithii ATCC 35061 Class imported / merged by efoimporter GC_ID:11 Methanobrevibacter smithii DSM 861 Methanobrevibacter smithii PS Methanobrevibacter smithii str. ATCC 35061 Methanobrevibacter smithii strain ATCC 35061 NCBITaxon:420247 ncbi_taxonomy Methanobrevibacter smithii str. ATCC 35061 Methanobrevibacter smithii strain ATCC 35061 Methanobrevibacter smithii DSM 861 Methanobrevibacter smithii PS Litomosoides sigmodontis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:42156 ncbi_taxonomy Carthamus tinctorius Carthamnus tinctorius Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4222 ncbi_taxonomy safflower Carthamnus tinctorius safflower Helianthus annuus Class imported / merged by efoimporter GC_ID:1 Helianthus annus Helianthus annuus8 NCBITaxon:4232 common sunflower ncbi_taxonomy common sunflower Helianthus annus Helianthus annuus8 Lactuca sativa Class imported / merged by efoimporter GC_ID:1 Lativa satuca NCBITaxon:4236 cultivated lettuce garden lettuce ncbi_taxonomy garden lettuce Lativa satuca cultivated lettuce Candida dubliniensis Class imported / merged by efoimporter GC_ID:12 NCBITaxon:42374 ncbi_taxonomy Peromyscus polionotus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:42413 ncbi_taxonomy oldfield mouse oldfield mouse Methylosinus trichosporium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:426 ncbi_taxonomy Thiomonas sp. 3As Class imported / merged by efoimporter GC_ID:11 NCBITaxon:426114 ncbi_taxonomy Staphylococcus aureus subsp. aureus str. Newman Class imported / merged by efoimporter GC_ID:11 NCBITaxon:426430 Staphylococcus aureus subsp. aureus Newman Staphylococcus aureus subsp. aureus strain Newman ncbi_taxonomy Staphylococcus aureus subsp. aureus strain Newman Staphylococcus aureus subsp. aureus Newman Fusarium subglutinans Class imported / merged by efoimporter Fusarium moniliforme var. subglutinans GC_ID:1 NCBITaxon:42677 ncbi_taxonomy Fusarium moniliforme var. subglutinans Staphylococcus lentus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:42858 Staphylococcus lentus (Kloos et al. 1976) Schleifer et al. 1983 Staphylococcus sciuri subsp. lentus Staphylococcus sciuri subsp. lentus Kloos et al. 1976 (Approved Lists 1980) ncbi_taxonomy Staphylococcus lentus (Kloos et al. 1976) Schleifer et al. 1983 Staphylococcus sciuri subsp. lentus Staphylococcus sciuri subsp. lentus Kloos et al. 1976 (Approved Lists 1980) Dactylellina haptotyla Arthrobotrys haptotyla Class imported / merged by efoimporter Dactylaria haptotyla GC_ID:1 Monacrosporium haptotylum NCBITaxon:430498 ncbi_taxonomy Monacrosporium haptotylum Arthrobotrys haptotyla Dactylaria haptotyla Trichoderma reesei QM6a Class imported / merged by efoimporter GC_ID:1 NCBITaxon:431241 ncbi_taxonomy Spermophilus tridecemlineatus Citellus tridecemlineatus Class imported / merged by efoimporter GC_ID:1 Ictidomys tridecemlineatus NCBITaxon:43179 ncbi_taxonomy thirteen-lined ground squirrel Citellus tridecemlineatus Ictidomys tridecemlineatus thirteen-lined ground squirrel Porphyromonas gingivalis ATCC 33277 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:431947 Porphyromonas gingivalis str. ATCC 33277 Porphyromonas gingivalis strain ATCC 33277 ncbi_taxonomy Porphyromonas gingivalis strain ATCC 33277 Porphyromonas gingivalis str. ATCC 33277 Harpagifer antarcticus Antarctic spiny plunderfish Class imported / merged by efoimporter GC_ID:1 NCBITaxon:43256 ncbi_taxonomy Antarctic spiny plunderfish Populus alba Class imported / merged by efoimporter GC_ID:1 NCBITaxon:43335 Populus alba L. abele gin-doro ncbi_taxonomy silver-leaf poplar white poplar xin bai yang xin bai yang Populus alba L. gin-doro white poplar silver-leaf poplar abele Actinobacillus pleuropneumoniae serovar 3 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:434270 ncbi_taxonomy Gyps africanus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:43490 ncbi_taxonomy white-backed vulture white-backed vulture Acetobacter aceti Acetimonas aceti Acetobacter (subgen. Acetobacter) aceti Acetobacter aceti aceti Acetobacter aceti orleanensis Acetobacter aceti subsp. aceti Acetobacter aceti var. muciparum Acetobacter ketogenum Acetobacter lafarianum Bacillus aceticus Bacteriopsis aceti Bacterium aceti Bacterium acetigenoidum Bacterium hansenianum Class imported / merged by efoimporter GC_ID:11 Micrococcus aceti Mycoderma aceti souches non visqueuses (membraneuses) NCBITaxon:435 ncbi_taxonomy Bacillus aceticus Bacterium hansenianum Bacteriopsis aceti Mycoderma aceti souches non visqueuses (membraneuses) Acetobacter aceti orleanensis Acetobacter (subgen. Acetobacter) aceti Micrococcus aceti Acetobacter aceti aceti Bacterium acetigenoidum Bacterium aceti Acetobacter ketogenum Acetobacter lafarianum Acetimonas aceti Acetobacter aceti var. muciparum Acetobacter aceti subsp. aceti Metallosphaera sedula Class imported / merged by efoimporter GC_ID:11 NCBITaxon:43687 ncbi_taxonomy Chara corallina Class imported / merged by efoimporter GC_ID:1 NCBITaxon:43696 ncbi_taxonomy Sedum alfredii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:439688 Sedum alfredii Hance ncbi_taxonomy Sedum alfredii Hance Cyanothece Class imported / merged by efoimporter GC_ID:11 NCBITaxon:43988 ncbi_taxonomy Cyanothece sp. ATCC 51142 Class imported / merged by efoimporter Cyanothece (strain ATCC 51142) Cyanothece 51142 Cyanothece ATCC51142 Cyanothece sp. BH68 Cyanothece sp. BH68K GC_ID:11 NCBITaxon:43989 ncbi_taxonomy Cyanothece ATCC51142 Cyanothece sp. BH68K Cyanothece sp. BH68 Cyanothece 51142 Cyanothece (strain ATCC 51142) Caldicellulosiruptor saccharolyticus Caldocellum saccharolyticum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:44001 ncbi_taxonomy Caldocellum saccharolyticum Aureococcus anophagefferens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:44056 ncbi_taxonomy Paenibacillus Bacillus polymyxa group Class imported / merged by efoimporter GC_ID:11 NCBITaxon:44249 ncbi_taxonomy rRNA group 3 bacilli Bacillus polymyxa group rRNA group 3 bacilli Leishmania chagasi Class imported / merged by efoimporter GC_ID:1 Leishmania (Leishmania) chagasi Leishmania donovani chagasi Leishmania infantum chagasi NCBITaxon:44271 ncbi_taxonomy Leishmania (Leishmania) chagasi Leishmania donovani chagasi Leishmania infantum chagasi Actinobacillus pleuropneumoniae serovar 5 Actinobacillus pleuropneumoniae 5 Actinobacillus pleuropneumoniae serotype 5 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:44294 ncbi_taxonomy Actinobacillus pleuropneumoniae serotype 5 Actinobacillus pleuropneumoniae 5 Melospiza melodia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:44397 ncbi_taxonomy song sparrow song sparrow Apis mellifera mellifera Apis mellifera mellifera Linnaeus, 1758 Class imported / merged by efoimporter GC_ID:1 German honeybee NCBITaxon:44477 ncbi_taxonomy Apis mellifera mellifera Linnaeus, 1758 German honeybee Legionella pneumophila Class imported / merged by efoimporter GC_ID:11 NCBITaxon:446 ncbi_taxonomy Rhabditis remanei Trichophyton longifusum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:446639 ncbi_taxonomy Dictyostelium discoideum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:44689 ncbi_taxonomy human oral metagenome Class imported / merged by efoimporter GC_ID:11 NCBITaxon:447426 ncbi_taxonomy Rickettsia prowazekii Rp22 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:449216 Rickettsia prowazekii str. Rp22 Rickettsia prowazekii strain Rp22 ncbi_taxonomy Rickettsia prowazekii str. Rp22 Rickettsia prowazekii strain Rp22 Avena sativa Avena sativa L. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4498 cultivated oat ncbi_taxonomy oat cultivated oat oat Avena sativa L. Legionella longbeachae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:450 ncbi_taxonomy Bromus secalinus Bromus mollis var. secalinus Bromus secalinas Bromus secalinus L. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4502 cheat chess chess bromegrass ncbi_taxonomy rye brome Bromus secalinus L. rye brome chess cheat chess bromegrass Bromus mollis var. secalinus Bromus secalinas Hordeum vulgare Class imported / merged by efoimporter GC_ID:1 Hordeum vulgare L. Horedum vulgare NCBITaxon:4513 barley ncbi_taxonomy Horedum vulgare Hordeum vulgare L. barley Cochliobolus sativus Bipolaris sorokiniana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:45130 ncbi_taxonomy Bipolaris sorokiniana Cyanidioschyzon merolae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:45157 ncbi_taxonomy Amapari virus AMAV Amapari arenavirus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:45218 ncbi_taxonomy Amapari arenavirus AMAV Guanarito virus Class imported / merged by efoimporter GC_ID:1 GTOV Guanarito arenavirus NCBITaxon:45219 ncbi_taxonomy GTOV Guanarito arenavirus Lolium perenne Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4522 ncbi_taxonomy perennial ryegrass perennial ryegrass Arabidopsis suecica Arabidopsis suecica (Fries) Norrl. Arabis suecica Arabis suecica Fries. Cardaminopsis suecica Cardaminopsis suecica (Fries) Hiitonen Class imported / merged by efoimporter GC_ID:1 Hylandra suecica Hylandra suecica A.Love NCBITaxon:45249 ncbi_taxonomy Cardaminopsis suecica (Fries) Hiitonen Hylandra suecica Arabis suecica Fries. Arabis suecica Hylandra suecica A.Love Cardaminopsis suecica Arabidopsis suecica (Fries) Norrl. Acropora millepora Class imported / merged by efoimporter GC_ID:1 NCBITaxon:45264 ncbi_taxonomy Oryza longistaminata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4528 Oryza longistaminata A.Chev. & Roehr. long-staminate rice ncbi_taxonomy red rice long-staminate rice Oryza longistaminata A.Chev. & Roehr. red rice Oryza rufipogon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4529 common wild rice ncbi_taxonomy red rice red rice common wild rice Oryza sativa Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4530 ncbi_taxonomy red rice rice rice red rice Nematostella vectensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:45351 Nematostella vectensis Stephenson, 1935 ncbi_taxonomy starlet sea anemone Nematostella vectensis Stephenson, 1935 starlet sea anemone Oryza nivara Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4536 Oryza nivara S.D.Sharma & Shastry Oryza nivarra Oryza sativa f. spontanea Oryza sativa f. spontanea Roshev. nom. illeg. ncbi_taxonomy Oryza sativa f. spontanea Roshev. nom. illeg. Oryza nivarra Oryza nivara S.D.Sharma & Shastry Oryza sativa f. spontanea Cenchrus americanus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4543 Pennisetum americanum Pennisetum glaucum Pennisetum typhoides Pennisetum typhoideum Pennistum glaucum Setaria glauca bulrush millet cattail millet ncbi_taxonomy pearl millet bulrush millet cattail millet Pennisetum typhoides Setaria glauca Pennisetum americanum Pennisetum typhoideum pearl millet Pennistum glaucum Pennisetum glaucum Rhamphochromis sp. 'chilingali' Class imported / merged by efoimporter GC_ID:1 NCBITaxon:454631 Rhamphochromis 'chilingali' ncbi_taxonomy Rhamphochromis 'chilingali' Saccharum officinarum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4547 ncbi_taxonomy noble cane sugarcane sugarcane noble cane Setaria italica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4555 Setaria italica (L.) P.Beauv. foxtail millet ncbi_taxonomy Setaria italica (L.) P.Beauv. foxtail millet Streptomyces griseus subsp. griseus NBRC 13350 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:455632 Streptomyces griseus subsp. griseus IFO 13350 Streptomyces griseus subsp. griseus str. NBRC 13350 Streptomyces griseus subsp. griseus strain NBRC 13350 ncbi_taxonomy Streptomyces griseus subsp. griseus strain NBRC 13350 Streptomyces griseus subsp. griseus str. NBRC 13350 Streptomyces griseus subsp. griseus IFO 13350 Sorghum bicolor Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4558 Sorghum bicolor milo Sorghum saccharatum Sorghum vulgare broomcorn milo ncbi_taxonomy sorghum Sorghum vulgare broomcorn sorghum Sorghum saccharatum Sorghum bicolor milo milo Candida tenuis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:45596 ncbi_taxonomy Desulfovibrio halophilus Class imported / merged by efoimporter Desulfovibrio halophilus Caumette et al. 1991 GC_ID:11 NCBITaxon:45629 ncbi_taxonomy Desulfovibrio halophilus Caumette et al. 1991 Triticum aestivum Canadian hard winter wheat Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4565 Tricum aestivum Triticum aestivam Triticum aestivum subsp. aestivum Triticum aestivum8 Triticum vulgare bread wheat common wheat ncbi_taxonomy wheat Canadian hard winter wheat Triticum aestivum8 bread wheat Tricum aestivum Triticum aestivam wheat Triticum vulgare Triticum aestivum subsp. aestivum common wheat Triticum durum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4567 Triticum durum ssp. durum Triticum durum subsp. durum Triticum rigidum conv. durum Triticum rigidum ssp. durum Triticum rigidum var. durum Triticum turgidum subsp. durum duri wheat durum wheat ncbi_taxonomy Triticum durum ssp. durum Triticum durum subsp. durum Triticum rigidum var. durum Triticum turgidum subsp. durum Triticum rigidum conv. durum durum wheat Triticum rigidum ssp. durum duri wheat Rhizoctonia solani Class imported / merged by efoimporter GC_ID:1 NCBITaxon:456999 Rhizoctonia praticola ncbi_taxonomy Rhizoctonia praticola Sabia virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:45709 Sabia arenavirus Sabio virus ncbi_taxonomy Sabia arenavirus Sabio virus Zea mays Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4577 Zea mays mays Zea mays var. japonica maize ncbi_taxonomy Zea mays mays Zea mays var. japonica maize Dreissena polymorpha Class imported / merged by efoimporter Dreissena polymorpha (Pallas, 1771) GC_ID:1 NCBITaxon:45954 ncbi_taxonomy zebra mussel Dreissena polymorpha (Pallas, 1771) zebra mussel Festuca arundinacea Class imported / merged by efoimporter Festuca elatior GC_ID:1 Lolium arundinaceum NCBITaxon:4606 Schedonorus arundinaceus Schedonorus phoenix ncbi_taxonomy tall fescue tall fescue Lolium arundinaceum Festuca elatior Schedonorus phoenix Schedonorus arundinaceus Drosophila pseudoobscura bogotana Class imported / merged by efoimporter Drosophila bogotana GC_ID:1 NCBITaxon:46244 ncbi_taxonomy Drosophila bogotana Musa acuminata Class imported / merged by efoimporter GC_ID:1 Musa AA Group Musa accumunata Musa acuminata AA Group Musa nana NCBITaxon:4641 banana dessert bananas ncbi_taxonomy sweet banana Musa acuminata AA Group sweet banana Musa AA Group dessert bananas Musa nana Musa accumunata banana Aspergillus versicolor Class imported / merged by efoimporter GC_ID:1 NCBITaxon:46472 ncbi_taxonomy Allium cepa Allium cepa L. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4679 ncbi_taxonomy onion Allium cepa L. onion Musa sp. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:46838 ncbi_taxonomy Lilium longiflorum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4690 ncbi_taxonomy trumpet lily trumpet lily Escherichia coli BL21(DE3) Class imported / merged by efoimporter Escherichia coli str. BL21(DE3) Escherichia coli strain BL21(DE3) GC_ID:11 NCBITaxon:469008 ncbi_taxonomy Escherichia coli strain BL21(DE3) Escherichia coli str. BL21(DE3) Acinetobacter baumannii Acinetobacter baumanii Acinetobacter baumanni Acinetobacter genomosp. 2 Acinetobacter genomospecies 2 Bacterium anitratum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:470 ncbi_taxonomy Acinetobacter genomospecies 2 Acinetobacter baumanni Acinetobacter genomosp. 2 Acinetobacter baumanii Bacterium anitratum Streptococcus pyogenes NZ131 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:471876 Streptococcus pyogenes str. NZ131 Streptococcus pyogenes strain NZ131 ncbi_taxonomy Streptococcus pyogenes str. NZ131 Streptococcus pyogenes strain NZ131 Lotus corniculatus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:47247 ncbi_taxonomy Oscheius dolichura Enterococcus faecalis OG1RF Class imported / merged by efoimporter Enterococcus faecalis str. OG1RF Enterococcus faecalis strain OG1RF GC_ID:11 NCBITaxon:474186 ncbi_taxonomy Enterococcus faecalis str. OG1RF Enterococcus faecalis strain OG1RF Lactobacillus panis Class imported / merged by efoimporter GC_ID:11 Lactobacillus panis Wiese et al. 1996 NCBITaxon:47493 ncbi_taxonomy Lactobacillus panis Wiese et al. 1996 Human echovirus 18 Class imported / merged by efoimporter Echovirus 18 Echovirus type 18 GC_ID:1 NCBITaxon:47506 ncbi_taxonomy Echovirus type 18 Echovirus 18 Onthophagus nigriventris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:476074 ncbi_taxonomy Populus tremula x Populus tremuloides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:47664 Populus tremula x P. tremuloides Populus tremula x Poplulua tremuloides Populus tremula x Poplulus tremuloides ncbi_taxonomy Populus tremula x P. tremuloides Populus tremula x Poplulus tremuloides Populus tremula x Poplulua tremuloides Lactobacillus rhamnosus Class imported / merged by efoimporter GC_ID:11 Lactobacillus casei rhamnosus Lactobacillus casei subsp. rhamnosus NCBITaxon:47715 ncbi_taxonomy Lactobacillus casei subsp. rhamnosus Lactobacillus casei rhamnosus Agrotis segetum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:47767 ncbi_taxonomy turnip moth turnip moth Lactobacillus crispatus Class imported / merged by efoimporter Eubacterium crispatum GC_ID:11 NCBITaxon:47770 ncbi_taxonomy Eubacterium crispatum Mus musculus musculus x M. m. domesticus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:477815 ncbi_taxonomy Symplocarpus renifolius Class imported / merged by efoimporter GC_ID:1 NCBITaxon:477955 Symplocarpus renifolius Schott ex N.N.Tzvelev ncbi_taxonomy Symplocarpus renifolius Schott ex N.N.Tzvelev Phytophthora infestans Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4787 ncbi_taxonomy potato late blight potato late blight agent potato late blight fungus potato late blight fungus potato late blight agent potato late blight Marvinbryantia formatexigens DSM 14469 Bryantella formatexigens DSM 14469 Bryantella formatexigens I-52 Class imported / merged by efoimporter Clostridium-like sp. I-52 GC_ID:11 Marvinbryantia formatexigens str. DSM 14469 Marvinbryantia formatexigens strain DSM 14469 NCBITaxon:478749 Ruminococcus sp. I-52 ncbi_taxonomy Marvinbryantia formatexigens str. DSM 14469 Ruminococcus sp. I-52 Bryantella formatexigens DSM 14469 Clostridium-like sp. I-52 Bryantella formatexigens I-52 Marvinbryantia formatexigens strain DSM 14469 Macacine herpesvirus 3 CeHV-8 Cercopithecine herpesvirus 8 Class imported / merged by efoimporter GC_ID:1 Macacine herpesvirus 8 NCBITaxon:47929 Rhesus cytomegalovirus Rhesus macaque cytomegalovirus Rhesus monkey cytomegalovirus ncbi_taxonomy Cercopithecine herpesvirus 8 Rhesus monkey cytomegalovirus Macacine herpesvirus 8 Rhesus cytomegalovirus CeHV-8 Rhesus macaque cytomegalovirus Moraxella catarrhalis Branhamella catarrhalis Class imported / merged by efoimporter GC_ID:11 Mikrokkokus catarrhalis Moraxella catarralis NCBITaxon:480 ncbi_taxonomy Mikrokkokus catarrhalis Moraxella catarralis Branhamella catarrhalis Blastocladiella emersonii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4808 ncbi_taxonomy Xenopus laevis x Xenopus muelleri Class imported / merged by efoimporter GC_ID:1 NCBITaxon:481606 Xenopus laevis x X. muelleri ncbi_taxonomy Xenopus laevis x X. muelleri Neisseria Class imported / merged by efoimporter GC_ID:11 Gonococcus Merismopedia NCBITaxon:482 Neisseria Trevisan 1885 Nesseira ncbi_taxonomy Gonococcus NCBITaxonRef:Lindau_1898 Merismopedia NCBITaxonRef:Zopf_1885 Neisseria Trevisan 1885 Gonococcus Nesseira Ralstonia phage RSL1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:482058 Ralstonia solanacearum phage RSL1 ncbi_taxonomy Ralstonia solanacearum phage RSL1 Burkholderia lata Burkholderia mana Class imported / merged by efoimporter GC_ID:11 NCBITaxon:482957 ncbi_taxonomy Burkholderia mana Neisseria cinerea Class imported / merged by efoimporter GC_ID:11 Micrococcus cinereus NCBITaxon:483 ncbi_taxonomy Micrococcus cinereus Neisseria flavescens Class imported / merged by efoimporter GC_ID:11 NCBITaxon:484 ncbi_taxonomy Zoarces viviparus Blennius viviparus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:48416 ncbi_taxonomy viviparous blenny Blennius viviparus viviparous blenny Fusarium anthophilum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:48485 ncbi_taxonomy Montastraea faveolata Class imported / merged by efoimporter GC_ID:1 Montastrea faveolata NCBITaxon:48498 ncbi_taxonomy Montastrea faveolata Neisseria gonorrhoeae Class imported / merged by efoimporter Diplococcus gonorrhoeae GC_ID:11 Gonococcus neisseri Merismopedia gonorrhoeae Micrococcus der gonorrhoe Micrococcus gonococcus Micrococcus gonorrhoeae NCBITaxon:485 Neisseria gonorrheae Neisseria gonorrhoeae. Nesseria gonorrhoeae ncbi_taxonomy Merismopedia gonorrhoeae Neisseria gonorrheae Micrococcus der gonorrhoe Nesseria gonorrhoeae Neisseria gonorrhoeae. Gonococcus neisseri Micrococcus gonorrhoeae Diplococcus gonorrhoeae Micrococcus gonococcus Neisseria lactamica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:486 Neisseria lactamicus ncbi_taxonomy Neisseria lactamicus Laccaria bicolor S238N-H82 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:486041 ncbi_taxonomy Neisseria meningitidis Class imported / merged by efoimporter Diplokokkus intracellularis meningitidis GC_ID:11 Micrococcus intracellularis Micrococcus meningitidis Micrococcus meningitidis cerebrospinalis NCBITaxon:487 Neisseria meningitidis. Neisseria weichselbaumii ncbi_taxonomy Neisseria meningitidis. Micrococcus meningitidis Neisseria weichselbaumii Diplokokkus intracellularis meningitidis Micrococcus meningitidis cerebrospinalis Micrococcus intracellularis Orchesella cincta Class imported / merged by efoimporter GC_ID:1 NCBITaxon:48709 ncbi_taxonomy Glomus intraradices Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4876 ncbi_taxonomy Cardamine sp. SIM-2007 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:487795 ncbi_taxonomy Neisseria mucosa Class imported / merged by efoimporter Diplococcus mucosus GC_ID:11 NCBITaxon:488 ncbi_taxonomy Diplococcus mucosus Geospiza conirostris Class imported / merged by efoimporter GC_ID:1 Geospiza cornirostris NCBITaxon:48882 ncbi_taxonomy Geospiza cornirostris Geospiza fortis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:48883 ncbi_taxonomy Geospiza magnirostris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:48885 ncbi_taxonomy Geospiza scandens Class imported / merged by efoimporter GC_ID:1 Geospiza scadens NCBITaxon:48886 ncbi_taxonomy Geospiza scadens Neisseria polysaccharea Class imported / merged by efoimporter GC_ID:11 NCBITaxon:489 Neisseria polysacchareae ncbi_taxonomy Neisseria polysacchareae Ascomycota James Malone Strain or line specific to yeast http://www.ebi.ac.uk/efo/EFO_0000740 yeasts Schizosaccharomyces pombe Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:4896 Schizosaccharomyces malidevorans Schizosaccharomyces pombeP fission yeast ncbi_taxonomy Schizosaccharomyces pombeP fission yeast Schizosaccharomyces malidevorans Schizosaccharomyces japonicus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4897 Schizosaccharomyces japonicus var. japonicus Schizosaccharomyces japonicus var. versatilis ncbi_taxonomy Schizosaccharomyces japonicus var. versatilis Schizosaccharomyces japonicus var. japonicus Komagataella pastoris Class imported / merged by efoimporter GC_ID:1 Komagataella pastoris (Guilliermond) Y.Yamada et al. NCBITaxon:4922 Pichia pastoris Pichia pastoris (Guillierm.) Phaff ncbi_taxonomy Pichia pastoris Pichia pastoris (Guillierm.) Phaff Komagataella pastoris (Guilliermond) Y.Yamada et al. Lycopersicon Class imported / merged by efoimporter GC_ID:1 Lycopersicon (Mill.) Seithe Lycopersicum NCBITaxon:49274 ncbi_taxonomy Lycopersicum Lycopersicon (Mill.) Seithe Saccharomyces bayanus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:4931 ncbi_taxonomy Saccharomyces cerevisiae Candida robusta Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:4932 Saccaromyces cerevisiae Saccharomyces capensis Saccharomyces italicus Saccharomyces oviformis Saccharomyces uvarum var. melibiosus Saccharomyes cerevisiae Sccharomyces cerevisiae baker's yeast brewer's yeast lager beer yeast ncbi_taxonomy yeast yeast Saccharomyces capensis Saccharomyces uvarum var. melibiosus Saccharomyces italicus baker's yeast Saccharomyces oviformis Candida robusta Saccharomyes cerevisiae Saccaromyces cerevisiae brewer's yeast Sccharomyces cerevisiae lager beer yeast Nicotiana attenuata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:49451 ncbi_taxonomy Neisseria elongata Class imported / merged by efoimporter GC_ID:11 NCBITaxon:495 Neisseria elongata Bovre and Holten 1970 ncbi_taxonomy Neisseria elongata Bovre and Holten 1970 Yarrowia lipolytica Candida lipolytica Class imported / merged by efoimporter GC_ID:1 Mycotorula lipolytica NCBITaxon:4952 Yallowia lipolitica ncbi_taxonomy Candida lipolytica Mycotorula lipolytica Yallowia lipolitica Debaryomyces hansenii Class imported / merged by efoimporter Debaromyces hansenii GC_ID:12 NCBITaxon:4959 Torulaspora hansenii ncbi_taxonomy Torulaspora hansenii Debaromyces hansenii Falco chicquera Class imported / merged by efoimporter GC_ID:1 NCBITaxon:495941 ncbi_taxonomy Spartina anglica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:49785 ncbi_taxonomy Spartina maritima Class imported / merged by efoimporter Dactylis maritima GC_ID:1 NCBITaxon:49786 ncbi_taxonomy Dactylis maritima Lactobacillus casei str. Zhang Class imported / merged by efoimporter GC_ID:11 Lactobacillus casei strain Zhang NCBITaxon:498216 ncbi_taxonomy Lactobacillus casei strain Zhang Leptosphaeria maculans Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5022 Phoma lingam blackleg of canola fungus blackleg of crucifers fungus blackleg of rapeseed fungus ncbi_taxonomy blackleg of canola fungus Phoma lingam blackleg of crucifers fungus blackleg of rapeseed fungus Taraxacum officinale Class imported / merged by efoimporter GC_ID:1 NCBITaxon:50225 Taraxacum officinalis dandelion ncbi_taxonomy Taraxacum officinalis dandelion Fusarium acuminatum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:502705 ncbi_taxonomy Fusarium avenaceum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:502741 anamorph of Gibberella avenacea ncbi_taxonomy anamorph of Gibberella avenacea Paracoccidioides brasiliensis Pb01 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:502779 ncbi_taxonomy Ajellomyces capsulatus Ajellomyces capsulata Ajellomyces capsulatas Class imported / merged by efoimporter GC_ID:1 Histoplasma capsulatum NCBITaxon:5037 ncbi_taxonomy Ajellomyces capsulatas Histoplasma capsulatum Ajellomyces capsulata Eurotium amstelodami Aspergillus amstelodami Aspergillus vitis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5054 ncbi_taxonomy Aspergillus vitis Aspergillus amstelodami Aspergillus clavatus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5057 ncbi_taxonomy Aspergillus flavus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5059 Petromyces flavus ncbi_taxonomy Petromyces flavus Lithognathus mormyrus Class imported / merged by efoimporter GC_ID:1 Lithognathus mormyrus (Linnaeus, 1758) NCBITaxon:50591 Pagellus mormyrus Sparus mormyrus ncbi_taxonomy sand steenbras striped seabream sand steenbras Lithognathus mormyrus (Linnaeus, 1758) Pagellus mormyrus Sparus mormyrus striped seabream Aspergillus niger A. niger Aspergillus niger Tiegh. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5061 ncbi_taxonomy A. niger Aspergillus niger Tiegh. Aspergillus oryzae Aspergillus oryza Class imported / merged by efoimporter Eurotium oryzae GC_ID:1 NCBITaxon:5062 ncbi_taxonomy Eurotium oryzae Aspergillus oryza Aspergillus parasiticus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5067 ncbi_taxonomy Penicillium chrysogenum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5076 Penicillium notatum ncbi_taxonomy Penicillium notatum Heterodera glycines Class imported / merged by efoimporter GC_ID:1 Heterodera glycine Heterodera glycines Ichinohe, 1952 NCBITaxon:51029 ncbi_taxonomy soybean cyst nematode Heterodera glycine soybean cyst nematode Heterodera glycines Ichinohe, 1952 Aspergillus oryzae RIB40 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:510516 ncbi_taxonomy Claviceps purpurea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5111 Sphacelia segetum ergot fungus ncbi_taxonomy Sphacelia segetum ergot fungus Escherichia coli str. K-12 substr. MG1655 Class imported / merged by efoimporter Escherichia coli MG1655 Escherichia coli str. K12 substr. MG1655 Escherichia coli str. MG1655 Escherichia coli strain MG1655 GC_ID:11 NCBITaxon:511145 ncbi_taxonomy Escherichia coli MG1655 Escherichia coli strain MG1655 Escherichia coli str. K12 substr. MG1655 Escherichia coli str. MG1655 Escherichia coli BL21 Class imported / merged by efoimporter Escherichia coli str. BL21 Escherichia coli strain BL21 GC_ID:11 NCBITaxon:511693 ncbi_taxonomy Escherichia coli str. BL21 Escherichia coli strain BL21 Gibberella fujikuroi Class imported / merged by efoimporter Fusarium fujikuroi GC_ID:1 NCBITaxon:5127 ncbi_taxonomy Fusarium fujikuroi Gibberella pulicaris Class imported / merged by efoimporter Fusarium sambucinum GC_ID:1 NCBITaxon:5128 ncbi_taxonomy Fusarium sambucinum Brassica rapa subsp. pekinensis Brassica campestris (Pekinensis Group) Brassica campestris ssp. pekinensis Brassica campestris subsp. pekinensis Brassica campestris var. pekinensis Brassica pekinensis Brassica rapa Chinese Cabbage Group Brassica rapa ssp. pekinensis Brassica rapa var. glabra Chinese cabbage Class imported / merged by efoimporter GC_ID:1 NCBITaxon:51351 bai cai celery cabbage ncbi_taxonomy pe-tsai Brassica pekinensis Brassica campestris ssp. pekinensis Brassica rapa Chinese Cabbage Group Brassica campestris subsp. pekinensis celery cabbage Chinese cabbage pe-tsai Brassica campestris var. pekinensis bai cai Brassica campestris (Pekinensis Group) Brassica rapa var. glabra Brassica rapa ssp. pekinensis Neurospora crassa Chrysonilia crassa Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5141 ncbi_taxonomy Chrysonilia crassa Podospora anserina Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5145 ncbi_taxonomy Hypocrea jecorina Class imported / merged by efoimporter GC_ID:1 Hypocea jecorina Hypocrea pecorina NCBITaxon:51453 Trichoderma reesei ncbi_taxonomy Trichoderma reesei Hypocea jecorina Hypocrea pecorina Sordaria macrospora Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5147 ncbi_taxonomy Butyrivibrio proteoclasticus B316 Butyrivibrio proteoclasticus str. B316 Butyrivibrio proteoclasticus strain B316 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:515622 ncbi_taxonomy Butyrivibrio proteoclasticus strain B316 Butyrivibrio proteoclasticus str. B316 Nucella lapillus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:51631 ncbi_taxonomy Python regius Boa regia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:51751 Python regius (Shaw, 1802) Shireenhoserus regius ball python ncbi_taxonomy royal python Boa regia Shireenhoserus regius royal python ball python Python regius (Shaw, 1802) Anemonia viridis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:51769 ncbi_taxonomy Bordetella bronchiseptica Alcaligenes bronchicanis Alcaligenes bronchisepticus Bacillus bronchicanis Bacillus bronchisepticus Bacterium bronchisepticus Bordetella bronchiseptica (Ferry 1912) Moreno-Lopez 1952 Bordetella bronchiseptica@ Brucella bronchispetica Class imported / merged by efoimporter GC_ID:11 Haemophilus bronchisepticus NCBITaxon:518 ncbi_taxonomy Alcaligenes bronchicanis Bordetella bronchiseptica (Ferry 1912) Moreno-Lopez 1952 Bacillus bronchisepticus NCBITaxonRef:Ferry_1912 Alcaligenes bronchicanis NCBITaxonRef:Ferry_1911_Haupt_1935 Bacillus bronchisepticus Brucella bronchispetica NCBITaxonRef:Ferry_1912_Topley_and_Wilson_1929 Brucella bronchispetica Bordetella bronchiseptica@ Alcaligenes bronchisepticus Haemophilus bronchisepticus NCBITaxonRef:Ferry_1912_Wilson_and_Miles_1946 Bacterium bronchisepticus NCBITaxonRef:Ferry_1912_Evans_1918 Bacterium bronchisepticus Bacillus bronchicanis Alcaligenes bronchisepticus NCBITaxonRef:Ferry_1912_Bergey_et_al._1925 Haemophilus bronchisepticus Bacillus bronchicanis NCBITaxonRef:Ferry_1911 Corallus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:51859 ncbi_taxonomy Bordetella parapertussis Acinetobacter parapertussis Bacillus parapertussis Bordetella parapertussis (Eldering and Kendrick 1938) Moreno-Lopez 1952 Class imported / merged by efoimporter GC_ID:11 Haemophilus parapertussis NCBITaxon:519 ncbi_taxonomy Bacillus parapertussis NCBITaxonRef:Eldering_and_Kendrick_1938 Acinetobacter parapertussis Haemophilus parapertussis NCBITaxonRef:Eldering_and_Kendrick_1938_Wilson_and_Miles_1946 Acinetobacter parapertussis NCBITaxonRef:Eldering_and_Kendrick_1938_Steel_and_Cowan_1964 Bacillus parapertussis Bordetella parapertussis (Eldering and Kendrick 1938) Moreno-Lopez 1952 Haemophilus parapertussis Bordetella pertussis Bacterium tussis-convulsivae Class imported / merged by efoimporter GC_ID:11 Haemophilus pertussis Hemophilus pertussis Microbe de la coqueluche NCBITaxon:520 ncbi_taxonomy Microbe de la coqueluche Hemophilus pertussis Bacterium tussis-convulsivae Haemophilus pertussis Saccharomyces pastorianus Weihenstephan 34/70 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:520522 ncbi_taxonomy Cryptococcus neoformans Class imported / merged by efoimporter Filobasidiella neoformans Filobaxidiella neoformans GC_ID:1 NCBITaxon:5207 ncbi_taxonomy Filobaxidiella neoformans Filobasidiella neoformans Austrofundulus limnaeus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:52670 ncbi_taxonomy Ustilago maydis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5270 ncbi_taxonomy Bacillus thuringiensis Bt407 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:527021 ncbi_taxonomy Caldicellulosiruptor kristjanssonii Caldicellulosiruptor kristjanssonii Bredholt et al. 1999 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:52765 ncbi_taxonomy Caldicellulosiruptor kristjanssonii Bredholt et al. 1999 Caldicellulosiruptor lactoaceticus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:52766 ncbi_taxonomy Brassica carinata Abyssinian mustard Brassica carinata A.Braun Class imported / merged by efoimporter Ethiopian mustard GC_ID:1 NCBITaxon:52824 ncbi_taxonomy Ethiopian mustard Abyssinian mustard Brassica carinata A.Braun Neisseria gonorrhoeae F62 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:528351 ncbi_taxonomy Ochrobactrum anthropi Class imported / merged by efoimporter GC_ID:11 NCBITaxon:529 ncbi_taxonomy Scophthalmus maximus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:52904 Pleuronectes maximus Psetta maxima Rhombus maximus Scopthalmus maximus ncbi_taxonomy turbot Pleuronectes maximus Psetta maxima Rhombus maximus Scopthalmus maximus turbot Proteus mirabilis HI4320 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:529507 Proteus mirabilis str. HI4320 Proteus mirabilis strain HI4320 ncbi_taxonomy Proteus mirabilis str. HI4320 Proteus mirabilis strain HI4320 Heliconius erato etylus x Heliconius himera Class imported / merged by efoimporter GC_ID:1 NCBITaxon:529916 ncbi_taxonomy Phanerochaete chrysosporium Chrysosporium xerophilum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5306 Phanerochaete chrysosporium Burdsall Sporotrichum pruinosum ncbi_taxonomy Phanerochaete chrysosporium Burdsall Chrysosporium xerophilum Sporotrichum pruinosum Schizophyllum commune Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5334 ncbi_taxonomy Enterococcus mundtii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:53346 ncbi_taxonomy Coprinopsis cinerea Class imported / merged by efoimporter Coprinus cinereus Coprinus macrorhizus GC_ID:1 NCBITaxon:5346 ncbi_taxonomy Coprinus cinereus Coprinus macrorhizus Lentinula edodes Class imported / merged by efoimporter GC_ID:1 Lentinus edodes NCBITaxon:5353 ncbi_taxonomy shiitake mushroom shiitake mushroom Lentinus edodes Escherichia coli DH1 Class imported / merged by efoimporter Escherichia coli ATCC 33849 Escherichia coli str. DH1 Escherichia coli strain DH1 GC_ID:11 NCBITaxon:536056 ncbi_taxonomy Escherichia coli str. DH1 Escherichia coli strain DH1 Escherichia coli ATCC 33849 Eucalyptus camaldulensis x Eucalyptus grandis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:538997 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Abortusovis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:53961 Salmonella abortus-ovis Salmonella abortusovis ncbi_taxonomy Salmonella abortus-ovis Salmonella abortusovis Pristionchus pacificus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:54126 ncbi_taxonomy Cryptococcus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5415 ncbi_taxonomy Zymomonas mobilis Achromobacter anaerobium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:542 Pseudomonas lindneri Saccharomonas lindneri Thermobacterium mobile Zymomonas anaerobia Zymomonas mobile Zymomonas mobilis (Lindner 1928) Kluyver and van Niel 1936 Zymononas mobilis ncbi_taxonomy Zymomonas mobile Pseudomonas lindneri NCBITaxonRef:Kluyver_and_Hoppenbrouwers_1931 Pseudomonas lindneri Achromobacter anaerobium NCBITaxonRef:Kluyver_and_Hoppenbrouwers_1931_Shimwell_1950 Saccharomonas lindneri Zymomonas anaerobia Zymomonas mobilis (Lindner 1928) Kluyver and van Niel 1936 Saccharomonas lindneri Zymononas mobilis NCBITaxonRef:Lindner_1928 Thermobacterium mobile NCBITaxonRef:sic_Lindner_1928_Kluyver_and_van_Niel_1936 Zymomonas mobile Achromobacter anaerobium NCBITaxonRef:sic_Shimwell_1937 Thermobacterium mobile NCBITaxonRef:Shimwell_1937_Kluyver_1957 Zymomonas anaerobia Ferroglobus placidus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:54261 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Paratyphi A Bacterium paratyphi Bacterium paratyphi typhus A Class imported / merged by efoimporter GC_ID:11 NCBITaxon:54388 Salmonella choleraesuis choleraesuis (serotype paratyphi A) Salmonella choleraesuis subsp. choleraesuis serovar Paratyphi A Salmonella paratyphi Salmonella paratyphi A Salmonella paratyphi-a ncbi_taxonomy Salmonella paratyphi-a Salmonella choleraesuis subsp. choleraesuis serovar Paratyphi A Salmonella paratyphi Salmonella choleraesuis choleraesuis (serotype paratyphi A) Bacterium paratyphi Salmonella paratyphi A Bacterium paratyphi typhus A Citrobacter koseri Aerobacter diversum Citrobacter diversum Citrobacter diversum (sic) (Burkey 1928) Werkman and Gillen 1932 Citrobacter diversus Citrobacter diversus (Burkey 1928) Werkman and Gillen 1932 Citrobacter intermedius biogroup b Citrobacter koseri Frederiksen 1970 Class imported / merged by efoimporter GC_ID:11 Levinea malonatica Levinea malonatica Young et al. 1971 (Approved Lists 1980) NCBITaxon:545 ncbi_taxonomy Levinea malonatica Young et al. 1971 (Approved Lists 1980) Levinea malonatica Citrobacter koseri Frederiksen 1970 Citrobacter diversum Citrobacter intermedius biogroup b Citrobacter diversum (sic) (Burkey 1928) Werkman and Gillen 1932 Aerobacter diversum Citrobacter diversus Citrobacter diversus (Burkey 1928) Werkman and Gillen 1932 Aerobacter diversum NCBITaxonRef:sic_Burkey_1928 Streptomyces venezuelae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:54571 Streptomyces venezuelensis ncbi_taxonomy Streptomyces venezuelensis Salmonella bongori Class imported / merged by efoimporter GC_ID:11 NCBITaxon:54736 Salmonella cholerae-suis subsp. bongori Salmonella choleraesuis subsp. bongori Salmonella enterica V Salmonella enterica subsp. V Salmonella enterica subsp. bongori ncbi_taxonomy Salmonella choleraesuis subsp. bongori Salmonella enterica subsp. V Salmonella enterica V Salmonella enterica subsp. bongori Salmonella cholerae-suis subsp. bongori Candida albicans Candida stellatoidea Candida stellatoidea type I Class imported / merged by efoimporter GC_ID:12 NCBITaxon:5476 ncbi_taxonomy Candida stellatoidea Candida stellatoidea type I Candida glabrata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5478 Torulopsis glabrata ncbi_taxonomy Torulopsis glabrata Candida parapsilosis Candida parapsilopsis Class imported / merged by efoimporter GC_ID:12 NCBITaxon:5480 ncbi_taxonomy Candida parapsilopsis Pantoea agglomerans Bacillus milletiae Bacterium herbicola Class imported / merged by efoimporter Enterobacter agglomerans Enterobacter aglomerans Erwinia herbicola Erwinia milletiae GC_ID:11 NCBITaxon:549 Pantoea herbicola Pseudomonas herbicola ncbi_taxonomy Enterobacter agglomerans Pantoea herbicola Erwinia milletiae Erwinia herbicola Bacterium herbicola Bacillus milletiae Enterobacter aglomerans Pseudomonas herbicola Pinus resinosa Canadian red pine Class imported / merged by efoimporter GC_ID:1 NCBITaxon:54921 Norway pine ncbi_taxonomy red pine Norway pine red pine Canadian red pine Cochliobolus lunatus Class imported / merged by efoimporter Curvularia lunata GC_ID:1 NCBITaxon:5503 Pseudocochliobolus lunatus ncbi_taxonomy Curvularia lunata Pseudocochliobolus lunatus Fusarium oxysporum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5507 ncbi_taxonomy Ippy virus Class imported / merged by efoimporter GC_ID:1 IPPYV NCBITaxon:55096 ncbi_taxonomy IPPYV Mobala virus Class imported / merged by efoimporter GC_ID:1 MOBV NCBITaxon:55097 ncbi_taxonomy MOBV Fusarium sporotrichioides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5514 ncbi_taxonomy Leptosphaerulina chartarum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:55173 Pithomyces chartarum ncbi_taxonomy Pithomyces chartarum Gibberella zeae Class imported / merged by efoimporter Fusarium graminearum GC_ID:1 NCBITaxon:5518 ncbi_taxonomy Fusarium graminearum Erwinia amylovora Bacillus amylovorus Bacterium amylovorus Class imported / merged by efoimporter GC_ID:11 Micrococcus amylovorus NCBITaxon:552 ncbi_taxonomy Micrococcus amylovorus Bacterium amylovorus Bacillus amylovorus Caldicellulosiruptor owensensis Caldicellulosiruptor owensense Class imported / merged by efoimporter GC_ID:11 NCBITaxon:55205 ncbi_taxonomy Caldicellulosiruptor owensense Cryptococcus gattii Class imported / merged by efoimporter Cryptococcus bacillisporus Cryptococcus neoformans B Cryptococcus neoformans serotype B Cryptococcus neoformans serotype C Cryptococcus neoformans var. gatti Cryptococcus neoformans var. gattii Cryptococcus neoformans var. shanghaiensis Filobasidiella bacillispora Filobasidiella neoformans var. bacillispora Filobasidiella neoformans var. gattii GC_ID:1 NCBITaxon:552467 anamorph of Filobasidiella bacillispora ncbi_taxonomy Filobasidiella bacillispora Filobasidiella neoformans var. bacillispora Cryptococcus neoformans B Cryptococcus neoformans serotype B Cryptococcus neoformans var. gatti Cryptococcus neoformans var. shanghaiensis anamorph of Filobasidiella bacillispora Cryptococcus neoformans var. gattii Cryptococcus bacillisporus Filobasidiella neoformans var. gattii Cryptococcus neoformans serotype C Metarhizium Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5529 ncbi_taxonomy Metarhizium anisopliae Class imported / merged by efoimporter GC_ID:1 Metarhizium anisolpiae Metarhizium anisopliae var. anisopliae Metarrhizium anisopliae NCBITaxon:5530 ncbi_taxonomy Metarhizium anisopliae var. anisopliae Metarrhizium anisopliae Metarhizium anisolpiae Elodea nuttallii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:55313 ncbi_taxonomy Pectobacterium carotovorum Bacillus carotovorus Bacterium carotovorum Class imported / merged by efoimporter Erwinia caratovora Erwinia carotovora GC_ID:11 NCBITaxon:554 Pectobacterium cartovorum ncbi_taxonomy Bacillus carotovorus Erwinia caratovora Erwinia carotovora Bacterium carotovorum Pectobacterium cartovorum Hypocrea lixii Class imported / merged by efoimporter GC_ID:1 Hypocrea lixi NCBITaxon:5544 Trichoderma harizianum Trichoderma harzianum ncbi_taxonomy Hypocrea lixi Trichoderma harzianum Trichoderma harizianum Trichophyton rubrum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5551 ncbi_taxonomy Dehalobacter restrictus Class imported / merged by efoimporter Dehalobacterium restrictus GC_ID:11 NCBITaxon:55583 ncbi_taxonomy Dehalobacterium restrictus Erwinia chrysanthemi Class imported / merged by efoimporter Dickeya chrysanthemi Erwinia carotovora var. chrysanthemi Erwinia chrysanhemi GC_ID:11 NCBITaxon:556 Pectobacterium carotovorum var. chrysanthemi Pectobacterium cartovorum f. sp. chrysanthemi Pectobacterium chrysanthemi Pectobacterium chrysanthemi = Dickeya chrysanthemi Pectobacterium parthenii Pectobacterium parthenii var. chrysanthemi Pectobacterium parthenii var. dianthicola ncbi_taxonomy Pectobacterium carotovorum var. chrysanthemi Pectobacterium parthenii Pectobacterium chrysanthemi = Dickeya chrysanthemi Pectobacterium parthenii var. dianthicola Pectobacterium parthenii var. chrysanthemi Dickeya chrysanthemi Erwinia carotovora var. chrysanthemi Pectobacterium cartovorum f. sp. chrysanthemi Erwinia chrysanhemi Pectobacterium chrysanthemi freshwater sediment metagenome Class imported / merged by efoimporter GC_ID:11 NCBITaxon:556182 ncbi_taxonomy Rhabditinae Saccharomyces cerevisiae S288c Class imported / merged by efoimporter GC_ID:1 NCBITaxon:559292 ncbi_taxonomy Alternaria alternata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5599 ncbi_taxonomy Staphylococcus aureus subsp. aureus RN4220 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:561307 Staphylococcus aureus RN4220 Staphylococcus aureus subsp. aureus str. RN4220 Staphylococcus aureus subsp. aureus strain RN4220 ncbi_taxonomy Staphylococcus aureus subsp. aureus strain RN4220 Staphylococcus aureus subsp. aureus str. RN4220 Staphylococcus aureus RN4220 Escherichia coli Bacillus coli Bacterium coli Bacterium coli commune Class imported / merged by efoimporter Enterococcus coli Escherchia coli Eschericia coli GC_ID:11 NCBITaxon:562 bacterium E3 ncbi_taxonomy Bacterium coli commune Escherchia coli Eschericia coli Bacillus coli Enterococcus coli Bacterium coli bacterium E3 Agrotis ipsilon Agrotis ipsolon Agrotis ypsilon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:56364 black cutworm moth dark sword grass moth greasy cutworm moth ncbi_taxonomy dark sword grass moth greasy cutworm moth Agrotis ipsolon Agrotis ypsilon black cutworm moth Escherichia fergusonii CDC Enteric Group 10 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:564 ncbi_taxonomy CDC Enteric Group 10 Caulobacter crescentus NA1000 Caulobacter crescentus str. NA1000 Caulobacter crescentus strain NA1000 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:565050 ncbi_taxonomy Caulobacter crescentus str. NA1000 Caulobacter crescentus strain NA1000 Leishmania braziliensis Class imported / merged by efoimporter GC_ID:1 Leishmania (Viannia) braziliensis Leishmania brasiliensis Leishmania viannia NCBITaxon:5660 ncbi_taxonomy Leishmania brasiliensis Leishmania viannia Leishmania (Viannia) braziliensis Leishmania donovani Class imported / merged by efoimporter GC_ID:1 Leishmania (Leishmania) donovani NCBITaxon:5661 ncbi_taxonomy Leishmania (Leishmania) donovani Puccinia graminis f. sp. tritici Class imported / merged by efoimporter GC_ID:1 NCBITaxon:56615 Puccinia graminis f.sp. tritici ncbi_taxonomy Puccinia graminis f.sp. tritici Leishmania major Class imported / merged by efoimporter GC_ID:1 Leishmania (Leishmania) major Leishmania tropica major NCBITaxon:5664 ncbi_taxonomy Leishmania tropica major Leishmania (Leishmania) major Fusarium cerealis Class imported / merged by efoimporter Fusarium crookwellense GC_ID:1 NCBITaxon:56641 ncbi_taxonomy Fusarium crookwellense Leishmania mexicana Class imported / merged by efoimporter GC_ID:1 Leishmania (Leishmania) mexicana NCBITaxon:5665 ncbi_taxonomy Leishmania (Leishmania) mexicana Leishmania infantum Class imported / merged by efoimporter GC_ID:1 Leishmania (Leishmania) infantum Leishmania donovani infantum NCBITaxon:5671 ncbi_taxonomy Leishmania (Leishmania) infantum Leishmania donovani infantum Lactobacillus rhamnosus GG Class imported / merged by efoimporter GC_ID:11 Lactobacillus rhamnosus ATCC 53103 Lactobacillus rhamnosus str. GG Lactobacillus rhamnosus strain GG NCBITaxon:568703 ncbi_taxonomy Lactobacillus rhamnosus str. GG Lactobacillus rhamnosus strain GG Lactobacillus rhamnosus ATCC 53103 Leishmania tarentolae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5689 Sauroleishmania tarentolae ncbi_taxonomy Sauroleishmania tarentolae Trypanosoma brucei Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5691 Trypanosoma (Trypanozoon) brucei Trypanosoma brucei subgroup ncbi_taxonomy Trypanosoma (Trypanozoon) brucei Trypanosoma brucei subgroup Trypanosoma cruzi Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5693 ncbi_taxonomy Trypanosoma vivax Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5699 ncbi_taxonomy Trypanosoma brucei brucei Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5702 Trypanosoma (Trypanozoon) brucei brucei ncbi_taxonomy Trypanosoma (Trypanozoon) brucei brucei Salmonella enterica subsp. enterica serovar Paratyphi B Class imported / merged by efoimporter GC_ID:11 NCBITaxon:57045 Salmonella paratyphi B ncbi_taxonomy Salmonella paratyphi B Salmonella enterica subsp. enterica serovar Paratyphi C Class imported / merged by efoimporter GC_ID:11 NCBITaxon:57046 Salmonella paratyphi C ncbi_taxonomy Salmonella paratyphi C Helicobacter pylori P12 Class imported / merged by efoimporter GC_ID:11 Helicobacter pylori str. P12 Helicobacter pylori strain P12 NCBITaxon:570508 ncbi_taxonomy Helicobacter pylori str. P12 Helicobacter pylori strain P12 Nectria rigidiuscula Class imported / merged by efoimporter Fusarium decemcellulare GC_ID:1 NCBITaxon:57161 ncbi_taxonomy Fusarium decemcellulare Trichomonas vaginalis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5722 Tritrichomonas vaginalis ncbi_taxonomy Tritrichomonas vaginalis Klebsiella pneumoniae Bacillus pneumoniae Bacterium pneumoniae crouposae Class imported / merged by efoimporter GC_ID:11 Hyalococcus pneumoniae NCBITaxon:573 ncbi_taxonomy Hyalococcus pneumoniae Bacillus pneumoniae Bacterium pneumoniae crouposae Piriqueta cistoides subsp. caroliniana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:57329 Piriqueta caroliniana Piriqueta glabrescens ncbi_taxonomy pitted stripeseed Piriqueta caroliniana Piriqueta glabrescens pitted stripeseed Giardia intestinalis Class imported / merged by efoimporter GC_ID:1 Giardia duodenalis Giardia lamblia Lamblia intestinalis NCBITaxon:5741 ncbi_taxonomy Giardia duodenalis Lamblia intestinalis Giardia lamblia European bat lyssavirus 1 Class imported / merged by efoimporter European bat lyssavirus type 1 European bat virus 1 GC_ID:1 NCBITaxon:57482 ncbi_taxonomy European bat lyssavirus type 1 European bat virus 1 European bat lyssavirus 2 Class imported / merged by efoimporter European bat lyssavirus type 2 European bat virus 2 GC_ID:1 NCBITaxon:57483 ncbi_taxonomy European bat lyssavirus type 2 European bat virus 2 Entamoeba histolytica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5759 ncbi_taxonomy Naegleria gruberi Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5762 ncbi_taxonomy Leptospira interrogans serovar Lai Class imported / merged by efoimporter GC_ID:11 NCBITaxon:57678 ncbi_taxonomy Dictyostelium purpureum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5786 ncbi_taxonomy Physarum polycephalum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5791 ncbi_taxonomy Burkholderia thailandensis Burkholderia pseudomallei-like species Class imported / merged by efoimporter GC_ID:11 NCBITaxon:57975 ncbi_taxonomy Burkholderia pseudomallei-like species Cycas rumphii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:58031 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Agona Class imported / merged by efoimporter GC_ID:11 NCBITaxon:58095 Salmonella agona ncbi_taxonomy Salmonella agona Toxoplasma gondii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5811 ncbi_taxonomy Plasmodium berghei Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5821 ncbi_taxonomy Plasmodium falciparum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5833 Plasmodium (Laverania) falciparum malaria parasite P. falciparum ncbi_taxonomy malaria parasite P. falciparum Plasmodium (Laverania) falciparum Proteus mirabilis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:584 Proteus mirabilis Hauser 1885 ncbi_taxonomy Proteus mirabilis Hauser 1885 Plasmodium knowlesi Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5850 ncbi_taxonomy Plasmodium vivax Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5855 malaria parasite P. vivax ncbi_taxonomy malaria parasite P. vivax Plasmodium yoelii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5861 Plasmodium yoelli ncbi_taxonomy Plasmodium yoelli Theileria parva Class imported / merged by efoimporter GC_ID:1 NCBITaxon:5875 ncbi_taxonomy Paramecium tetraurelia Class imported / merged by efoimporter GC_ID:6 NCBITaxon:5888 Paramecium aurelia syngen 4 ncbi_taxonomy Paramecium aurelia syngen 4 Salmonella Class imported / merged by efoimporter GC_ID:11 NCBITaxon:590 Samonella ncbi_taxonomy Samonella Tetrahymena thermophila Class imported / merged by efoimporter GC_ID:6 NCBITaxon:5911 ncbi_taxonomy Salmonella enterica subsp. enterica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:59201 Salmonella cholerae-suis subsp. cholerae-suis Salmonella choleraesuis subsp. choleraesuis Salmonella enterica I Salmonella enterica subsp. I ncbi_taxonomy Salmonella enterica I Salmonella enterica subsp. I Salmonella cholerae-suis subsp. cholerae-suis Salmonella choleraesuis subsp. choleraesuis Salmonella enterica subsp. indica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:59207 Salmonella choleraesuis subsp. indica Salmonella enterica VI Salmonella enterica subsp. VI ncbi_taxonomy Salmonella choleraesuis subsp. indica Salmonella enterica subsp. VI Salmonella enterica VI Sarcophaga crassipalpis Class imported / merged by efoimporter GC_ID:1 Liopygia crassipalpis NCBITaxon:59312 Parasarcophaga crassipalpis Sarcophaga (Liopygia) crassipalpis Sarcophaga (Parasarcophaga) crassipalpis ncbi_taxonomy Liopygia crassipalpis Sarcophaga (Parasarcophaga) crassipalpis Parasarcophaga crassipalpis Sarcophaga (Liopygia) crassipalpis Ichthyophthirius multifiliis Class imported / merged by efoimporter GC_ID:6 NCBITaxon:5932 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Gallinarum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:594 Salmonella enterica serovar Gallinarum Salmonella gallinarum ncbi_taxonomy Salmonella enterica serovar Gallinarum Salmonella gallinarum Salmonella enterica subsp. enterica serovar Infantis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:595 Salmonella infantis ncbi_taxonomy Salmonella infantis Salmonella enterica subsp. enterica serovar Muenchen Class imported / merged by efoimporter GC_ID:11 NCBITaxon:596 Salmonella muenchen ncbi_taxonomy Salmonella muenchen Arabidopsis lyrata Arabidopsis lyrata (L.) O'Kane & Al-Shehbaz Class imported / merged by efoimporter GC_ID:1 NCBITaxon:59689 lyrate rockcress ncbi_taxonomy lyrate rockcress Arabidopsis lyrata (L.) O'Kane & Al-Shehbaz Arabidopsis lyrata subsp. petraea Arabidopsis lyrata subsp. petraea (L.) O'Kane & Al-Shehbaz Arabidopsis petraea Arabidopsis petraea (L.) V.I.Dorof. Cardaminopsis petraea Cardaminopsis petraea (L.) Hiitonen Class imported / merged by efoimporter GC_ID:1 NCBITaxon:59691 ncbi_taxonomy Arabidopsis lyrata subsp. petraea (L.) O'Kane & Al-Shehbaz Arabidopsis petraea Cardaminopsis petraea (L.) Hiitonen Arabidopsis petraea (L.) V.I.Dorof. Cardaminopsis petraea Taeniopygia guttata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:59729 Poephila guttata Taenopygia guttata ncbi_taxonomy zebra finch Poephila guttata zebra finch Taenopygia guttata Coregonus clupeaformis Class imported / merged by efoimporter Coregonus clupeaformis (Mitchill, 1818) GC_ID:1 NCBITaxon:59861 lake whitefish ncbi_taxonomy Coregonus clupeaformis (Mitchill, 1818) lake whitefish Prochlorococcus marinus subsp. pastoris str. CCMP1986 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:59919 Prochlorococcus marinus MED4 Prochlorococcus marinus sp. MED4 Prochlorococcus marinus subsp. pastoris str. CCMP1378 Prochlorococcus sp. CCMP1378 Prochlorococcus sp. MED4 ncbi_taxonomy Prochlorococcus sp. MED4 Prochlorococcus marinus sp. MED4 Prochlorococcus marinus subsp. pastoris str. CCMP1378 Prochlorococcus marinus MED4 Prochlorococcus sp. CCMP1378 Salmonella enterica subsp. enterica serovar Thompson Class imported / merged by efoimporter GC_ID:11 NCBITaxon:600 Salmonella thompson ncbi_taxonomy Salmonella thompson Penicillium viridicatum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:60134 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Pullorum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:605 Salmonella pullorum ncbi_taxonomy Salmonella pullorum Lactobacillus paraplantarum Class imported / merged by efoimporter GC_ID:11 Lactobacillus paraplantarum Curk et al. 1996 NCBITaxon:60520 ncbi_taxonomy Lactobacillus paraplantarum Curk et al. 1996 Chlorocebus sabaeus Cercopithecus aethiops sabaeus Cercopithecus sabaeus Cercopithecus sabeus Chlorocebus aethiops sabaeus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:60711 green monkey ncbi_taxonomy Chlorocebus aethiops sabaeus green monkey Cercopithecus sabaeus Cercopithecus aethiops sabaeus Cercopithecus sabeus Salmonella enterica subsp. enterica serovar Heidelberg Class imported / merged by efoimporter GC_ID:11 NCBITaxon:611 Salmonella heidelberg ncbi_taxonomy Salmonella heidelberg Fusarium equiseti Class imported / merged by efoimporter Fusarium scirpi GC_ID:1 NCBITaxon:61235 ncbi_taxonomy Fusarium scirpi Acropora palmata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6131 elkhorn coral ncbi_taxonomy elkhorn coral Acanthopleura Class imported / merged by efoimporter GC_ID:1 NCBITaxon:61362 ncbi_taxonomy Dehalococcoides Class imported / merged by efoimporter GC_ID:11 NCBITaxon:61434 ncbi_taxonomy Schistosoma japonicum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6182 ncbi_taxonomy Schistosoma mansoni Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6183 ncbi_taxonomy Shigella flexneri Class imported / merged by efoimporter GC_ID:11 NCBITaxon:623 Shigella paradysenteriae ncbi_taxonomy Shigella paradysenteriae Anopheles funestus African malaria mosquito Class imported / merged by efoimporter GC_ID:1 NCBITaxon:62324 ncbi_taxonomy African malaria mosquito Caenorhabditis Caenorhabditis briggsae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6238 ncbi_taxonomy Caenorhabditis elegans BTO:0002274 Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:6239 Rhabditis elegans ncbi_taxonomy nematode nematode Rhabditis elegans Shigella sonnei Bacterium sonnei Class imported / merged by efoimporter GC_ID:11 NCBITaxon:624 ncbi_taxonomy Bacterium sonnei Brugia malayi Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6279 agent of lymphatic filariasis ncbi_taxonomy agent of lymphatic filariasis Brugia pahangi Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6280 ncbi_taxonomy Dirofilaria immitis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6287 canine heartworm nematode dog heartworm nematode ncbi_taxonomy dog heartworm nematode canine heartworm nematode Haemonchus contortus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6289 barber pole worm ncbi_taxonomy red stomach worm red stomach worm barber pole worm Yersinia enterocolitica Bacterium enterocoliticum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:630 ncbi_taxonomy Bacterium enterocoliticum Yersinia pestis Bacillus pestis Bacterium pestis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:632 Pasteurella pestis Pestisella pestis Yersinia pseudotuberculosis subsp. pestis ncbi_taxonomy Yersinia pseudotuberculosis subsp. pestis Pestisella pestis Pasteurella pestis Bacterium pestis Bacillus pestis Yersinia pseudotuberculosis Bacillus pseudotuberkulosis Bacterium pseudotuberculosis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:633 Pasteurella pseudotuberculosis Shigella pseudotuberculosis ncbi_taxonomy Pasteurella pseudotuberculosis Bacillus pseudotuberkulosis Bacterium pseudotuberculosis Shigella pseudotuberculosis Arthroderma benhamiae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:63400 ncbi_taxonomy Arthroderma gypseum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:63402 Nannizzia gypsea ncbi_taxonomy Nannizzia gypsea Arthroderma otae Class imported / merged by efoimporter GC_ID:1 Microsporum canis NCBITaxon:63405 Nannizzia otae ncbi_taxonomy Microsporum canis Nannizzia otae Trichophyton megninii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:63416 ncbi_taxonomy Trichophyton verrucosum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:63417 ncbi_taxonomy Trichoderma atroviride Class imported / merged by efoimporter GC_ID:1 NCBITaxon:63577 Trichoderma atraviride ncbi_taxonomy Trichoderma atraviride Enchytraeus albidus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6390 ncbi_taxonomy Eisenia fetida Class imported / merged by efoimporter Eisenia fetida (Savigny, 1826) Eisenia fetidea Eisenia foetida GC_ID:1 NCBITaxon:6396 brandling worm common brandling worm common dung-worm ncbi_taxonomy red wiggler worm redworm tiger worm common dung-worm common brandling worm tiger worm Eisenia fetidea red wiggler worm Eisenia fetida (Savigny, 1826) redworm brandling worm Eisenia foetida Halobacterium sp. NRC-1 Class imported / merged by efoimporter GC_ID:11 Halobacterium salinarum NRC-1 Halobacterium salinarum str. NRC-1 Halobacterium salinarum strain NRC-1 Halobacterium sp. (strain NRC-1 / ATCC 700922 / JCM 11081) Halobacterium sp. (strain NRC-1) Halobacterium sp. ATCC 700922 Halobacterium sp. JCM 11081 NCBITaxon:64091 ncbi_taxonomy Halobacterium sp. (strain NRC-1) Halobacterium sp. ATCC 700922 Halobacterium salinarum strain NRC-1 Halobacterium salinarum NRC-1 Halobacterium sp. JCM 11081 Halobacterium sp. (strain NRC-1 / ATCC 700922 / JCM 11081) Halobacterium salinarum str. NRC-1 Xanthomonas oryzae pv. oryzae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:64187 Xanthomonas campestris pv. oryza ncbi_taxonomy Xanthomonas campestris pv. oryza Rocio virus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:64315 ncbi_taxonomy Synechococcus sp. CC9311 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:64471 ncbi_taxonomy Heliconius erato petiverana Class imported / merged by efoimporter GC_ID:1 Heliconius petiverana NCBITaxon:64531 ncbi_taxonomy Heliconius petiverana Buchnera sp. Class imported / merged by efoimporter GC_ID:11 NCBITaxon:64684 ncbi_taxonomy Aplysia californica California sea hare Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6500 ncbi_taxonomy California sea hare Cyanophage S-BnM1 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:65016 ncbi_taxonomy Pythium ultimum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:65071 ncbi_taxonomy Biomphalaria glabrata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6526 bloodfluke planorb ncbi_taxonomy bloodfluke planorb Mytilus californianus California mussel Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6549 ncbi_taxonomy California mussel Mytilus trossulus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6551 bay mussel common blue mussel ncbi_taxonomy bay mussel common blue mussel Crassostrea virginica Class imported / merged by efoimporter Crassotrea virginica GC_ID:1 NCBITaxon:6565 eastern oyster ncbi_taxonomy Crassotrea virginica eastern oyster Piriformospora indica Achlamydospora indica Achlamydospora indicum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:65672 fungal endophyte pNS1-2 ncbi_taxonomy Achlamydospora indicum fungal endophyte pNS1-2 Achlamydospora indica Rorippa amphibia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:65951 ncbi_taxonomy Rorippa sylvestris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:65952 Rorippa silvestre ncbi_taxonomy Rorippa silvestre Pantoea stewartii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:66269 Pantoea stewartii (Smith 1898) Mergaert et al. 1993 ncbi_taxonomy Pantoea stewartii (Smith 1898) Mergaert et al. 1993 Vibrio alginolyticus Beneckea alginolytica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:663 Oceanomonas alginolytica Pseudomonas creosotensis ncbi_taxonomy Pseudomonas creosotensis Beneckea alginolytica Oceanomonas alginolytica Vibrio cholerae Bacillo virgola del Koch Bacillus cholerae Bacillus cholerae-asiaticae Class imported / merged by efoimporter GC_ID:11 Kommabacillus Liquidivibrio cholerae Microspira comma NCBITaxon:666 Pacinia cholerae-asiaticae Spirillum cholerae Spirillum cholerae-asiaticae Vibrio choleae Vibrio cholera Vibrio cholerae-asiaticae Vibrio comma ncbi_taxonomy Vibrio comma Spirillum cholerae Kommabacillus Bacillus cholerae-asiaticae Microspira comma Vibrio choleae Vibrio cholera Spirillum cholerae-asiaticae Bacillo virgola del Koch Liquidivibrio cholerae Bacillus cholerae Vibrio cholerae-asiaticae Pacinia cholerae-asiaticae Daphnia pulex Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6669 common water flea ncbi_taxonomy common water flea Penaeus monodon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6687 Penaeus (Penaeus) monodon black tiger shrimp giant tiger prawn ncbi_taxonomy tiger prawn black tiger shrimp giant tiger prawn Penaeus (Penaeus) monodon tiger prawn Litopenaeus vannamei Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6689 Pacific white shrimp Penaeus (Litopenaeus) vannamei Penaeus vanameii Penaeus vannamei Penaeus vannameii ncbi_taxonomy white shrimp Penaeus (Litopenaeus) vannamei white shrimp Penaeus vannamei Penaeus vanameii Penaeus vannameii Pacific white shrimp Vibrio parahaemolyticus Beneckea parahaemolytica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:670 Oceanomonas parahaemolytica Pasteurella parahaemolytica Vibrio parahemolyticus ncbi_taxonomy Vibrio parahemolyticus Pasteurella parahaemolytica Oceanomonas parahaemolytica Beneckea parahaemolytica Vibrio vulnificus Beneckea vulnifica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:672 ncbi_taxonomy Beneckea vulnifica Streptomyces tanashiensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:67367 Streptomyces tanaschiensis Streptomyces tanaschimachiensis Streptomyces tanashiensis Hata et al. 1952 ncbi_taxonomy Streptomyces tanaschiensis Streptomyces tanaschimachiensis Streptomyces tanashiensis Hata et al. 1952 Carcinus maenas Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6759 common shore crab green crab ncbi_taxonomy green crab common shore crab Phytophthora sojae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:67593 Phytophthora megasperma f. sp. glycinea ncbi_taxonomy Phytophthora megasperma f. sp. glycinea Drechslera sp. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:67606 ncbi_taxonomy Callipepla californica California quail Class imported / merged by efoimporter GC_ID:1 Lophortyx californica NCBITaxon:67771 ncbi_taxonomy California quail Lophortyx californica Citrobacter rodentium Citrobacter genomospecies 9 Citrobacter sp. biovar 4280 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:67825 ncbi_taxonomy Citrobacter sp. biovar 4280 Citrobacter genomospecies 9 Euphausia superba Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6819 ncbi_taxonomy Streptococcus infantis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:68892 ncbi_taxonomy Gasterosteus aculeatus Class imported / merged by efoimporter GC_ID:1 Gasterosteus aculeatus Linnaeus, 1758 NCBITaxon:69293 ncbi_taxonomy three spined stickleback three-spined stickleback three spined stickleback three-spined stickleback Gasterosteus aculeatus Linnaeus, 1758 Rhipicephalus microplus Boophilus microplus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:6941 Rhipicephalus (Boophilus) microplus cattle tick ncbi_taxonomy southern cattle tick Boophilus microplus cattle tick southern cattle tick Rhipicephalus (Boophilus) microplus Amblyomma americanum Class imported / merged by efoimporter GC_ID:1 Haemalastor americanus NCBITaxon:6943 lone star tick ncbi_taxonomy lone star tick Haemalastor americanus Ixodes scapularis Class imported / merged by efoimporter GC_ID:1 Ixodes dammini NCBITaxon:6945 black-legged tick blacklegged tick deer tick ncbi_taxonomy shoulder tick deer tick blacklegged tick black-legged tick Ixodes dammini shoulder tick Trichophyton soudanense Class imported / merged by efoimporter GC_ID:1 NCBITaxon:69891 ncbi_taxonomy Microsporum gallinae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:69892 ncbi_taxonomy Locusta migratoria Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7004 migratory locust ncbi_taxonomy migratory locust Penicillium fellutanum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:70095 ncbi_taxonomy Schistocerca gregaria Class imported / merged by efoimporter GC_ID:1 Locusta gregaria NCBITaxon:7010 desert locust ncbi_taxonomy desert locust Locusta gregaria Acyrthosiphon pisum Acyrhosiphum pisum Acyrthosiphum pisum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7029 ncbi_taxonomy pea aphid Acyrthosiphum pisum pea aphid Acyrhosiphum pisum Bemisia tabaci Aleyrodes tabaci Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7038 ncbi_taxonomy sweet potato whitefly Aleyrodes tabaci sweet potato whitefly Ostreococcus tauri Class imported / merged by efoimporter GC_ID:1 NCBITaxon:70448 ncbi_taxonomy Tribolium castaneum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7070 ncbi_taxonomy red flour beetle rust-red flour beetle red flour beetle rust-red flour beetle Julidochromis transcriptus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:70784 masked julie ncbi_taxonomy masked julie Penicillium corylophilum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:70792 ncbi_taxonomy Shewanella oneidensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:70863 Shewanella oneidensis Venkateswaran et al. 1999 ncbi_taxonomy Shewanella oneidensis Venkateswaran et al. 1999 Bombyx mori Bombyx mori Linnaeus, 1758 Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7091 domestic silkworm ncbi_taxonomy silk moth silkworm silkworm Bombyx mori Linnaeus, 1758 silk moth domestic silkworm Spodoptera frugiperda Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7108 fall armyworm ncbi_taxonomy fall armyworm Eucalyptus grandis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:71139 ncbi_taxonomy rose gum rose gum Paxillus involutus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:71150 ncbi_taxonomy Manduca sexta Carolina sphinx Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7130 hornblower ncbi_taxonomy tobacco hawkmoth tobacco hornworm tomato hornworm tobacco hornworm tomato hornworm Carolina sphinx tobacco hawkmoth hornblower Aggregatibacter actinomycetemcomitans Actinobacillus (Haemophilus) actinomycetemcomitans Actinobacillus actinomycetemcomi Actinobacillus actinomycetemcomitans Bacterium acetinomycetum comitans Bacterium actinomycetem comitans Bacterium comitans Class imported / merged by efoimporter GC_ID:11 Haemophilus actinomycetemcomitans Haemophilus actinomyceticomitans NCBITaxon:714 ncbi_taxonomy Actinobacillus (Haemophilus) actinomycetemcomitans Haemophilus actinomyceticomitans Bacterium comitans Actinobacillus actinomycetemcomi Bacterium acetinomycetum comitans Bacterium actinomycetem comitans Actinobacillus actinomycetemcomitans Haemophilus actinomycetemcomitans Choristoneura fumiferana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7141 ncbi_taxonomy spruce budworm spruce budworm Fenneropenaeus merguiensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:71412 Penaeus (Fenneropenaeus) merguiensis Penaeus merguiensis ncbi_taxonomy Penaeus merguiensis Penaeus (Fenneropenaeus) merguiensis Actinobacillus pleuropneumoniae Actinobacillus pleuropneumonia Class imported / merged by efoimporter GC_ID:11 Haemophilus pleuropneumoniae NCBITaxon:715 ncbi_taxonomy Actinobacillus pleuropneumonia Haemophilus pleuropneumoniae Aedes aegypti Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7159 Stegomyia aegypti ncbi_taxonomy yellow fever mosquito yellow fever mosquito Stegomyia aegypti Aedes albopictus Asian tiger mosquito Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7160 Stegomyia albopicta forest day mosquito ncbi_taxonomy Stegomyia albopicta Asian tiger mosquito forest day mosquito Pinus pinaster Class imported / merged by efoimporter GC_ID:1 NCBITaxon:71647 Pinus laricio Savi, 1798 Pinus maritima cluster pine maritime pine ncbi_taxonomy non Pinus laricio Poir., 1804 Pinus maritima maritime pine Pinus laricio Savi, 1798 cluster pine non Pinus laricio Poir., 1804 Anopheles gambiae African malaria mosquito Anopheles gambia Anopheles gambiae Giles, 1902 Anopheles gambiae sensu stricto Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7165 ncbi_taxonomy African malaria mosquito Anopheles gambiae sensu stricto Anopheles gambiae Giles, 1902 Anopheles gambia Anopheles arabiensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7173 Southern African malaria mosquito ncbi_taxonomy Southern African malaria mosquito Culex quinquefasciatus Class imported / merged by efoimporter Culex pipiens quinquefasciatus Culex pipiens quiquefasciatus Culex quinquifasciatus Culex quinquifasiatus Culex quiquefasciatus GC_ID:1 NCBITaxon:7176 ncbi_taxonomy southern house mosquito Culex pipiens quiquefasciatus southern house mosquito Culex quinquifasciatus Culex quinquifasiatus Culex pipiens quinquefasciatus Culex quiquefasciatus Lepeophtheirus salmonis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:72036 ncbi_taxonomy salmon louse salmon louse Sebastes melanops Class imported / merged by efoimporter GC_ID:1 NCBITaxon:72085 Sebastes melanops Girard, 1856 black rockfish ncbi_taxonomy black rockfish Sebastes melanops Girard, 1856 Ceratitis capitata Ceratitis capitata (Wiedemann, 1824) Class imported / merged by efoimporter GC_ID:1 Mediterranean fruit fly NCBITaxon:7213 ncbi_taxonomy Mediterranean fruit fly Ceratitis capitata (Wiedemann, 1824) Drosophila Class imported / merged by efoimporter Drosophila Fallen, 1823 GC_ID:1 NCBITaxon:7215 fruit flies ncbi_taxonomy fruit flies Drosophila Fallen, 1823 Drosophila ananassae Class imported / merged by efoimporter Drosophila annanassae GC_ID:1 NCBITaxon:7217 ncbi_taxonomy Drosophila annanassae Drosophila erecta Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7220 ncbi_taxonomy Drosophila mauritiana Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7226 ncbi_taxonomy Drosophila melanogaster Class imported / merged by efoimporter Drosophila melangaster GC_ID:1 NCBITaxon:7227 Tomasz Adamusiak fruit fly ncbi_taxonomy fruit fly Drosophila melangaster Drosophila mojavensis Class imported / merged by efoimporter Drosophila mohavensis GC_ID:1 NCBITaxon:7230 ncbi_taxonomy Drosophila mohavensis Drosophila persimilis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7234 ncbi_taxonomy Drosophila pseudoobscura Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7237 ncbi_taxonomy Drosophila sechellia Class imported / merged by efoimporter Drosophila sechellia Tsacas and Bachli, 1981 GC_ID:1 NCBITaxon:7238 ncbi_taxonomy Drosophila sechellia Tsacas and Bachli, 1981 Drosophila simulans Class imported / merged by efoimporter GC_ID:1 Helen Parkinson NCBITaxon:7240 ncbi_taxonomy Drosophila teissieri Class imported / merged by efoimporter Drosophila teisseri Drosophila teissieri Tsacas, 1971 GC_ID:1 NCBITaxon:7243 ncbi_taxonomy Drosophila teisseri Drosophila teissieri Tsacas, 1971 Drosophila virilis Class imported / merged by efoimporter Drosophila irilis Drosophila virilis Sturtevant, 1916 GC_ID:1 NCBITaxon:7244 ncbi_taxonomy Drosophila virilis Sturtevant, 1916 Drosophila irilis Drosophila yakuba Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7245 ncbi_taxonomy Calyptogena kilmeri gill symbiont Calyptogena kilmeri endosymbiont Class imported / merged by efoimporter GC_ID:11 NCBITaxon:72600 ncbi_taxonomy Calyptogena kilmeri endosymbiont Calyptogena pacifica gill symbiont Class imported / merged by efoimporter GC_ID:11 NCBITaxon:72603 ncbi_taxonomy Haemophilus influenzae Bacterium influenzae Class imported / merged by efoimporter Coccobacillus pfeifferi GC_ID:11 Haemophilus meningitidis Influenza-bacillus Mycobacterium influenzae NCBITaxon:727 ncbi_taxonomy Mycobacterium influenzae Coccobacillus pfeifferi Haemophilus meningitidis Bacterium influenzae Influenza-bacillus Haemophilus ducreyi Bacillus ulceris cancrosi Class imported / merged by efoimporter Coccobacillus ducreyi GC_ID:11 NCBITaxon:730 ncbi_taxonomy Bacillus ulceris cancrosi Coccobacillus ducreyi Histophilus somni Class imported / merged by efoimporter GC_ID:11 Haemophilus agni Haemophilus ovis Haemophilus somnifer Haemophilus somnus Hemophilus agni Hemophilus somnus Histophilus ovis Histophilus somni Angen et al. 2003 NCBITaxon:731 ncbi_taxonomy Hemophilus somnus Haemophilus agni Haemophilus ovis Histophilus somni Angen et al. 2003 Haemophilus somnifer NCBITaxonRef:Miles_et_al._1972 Histophilus ovis NCBITaxonRef:Roberts_1956 Haemophilus ovis NCBITaxonRef:Mitchell_1925 Haemophilus somnifer Haemophilus somnus NCBITaxonRef:sic_Bailie_1969 Hemophilus agni Haemophilus somnus Histophilus ovis Haemophilus agni NCBITaxonRef:Kennedy_et_al._1958 Cordyceps militaris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:73501 ncbi_taxonomy Haematobia irritans Class imported / merged by efoimporter GC_ID:1 Haematobia iritans Haematobia irritans (Linnaeus, 1758) Lyperosia irritans NCBITaxon:7368 horn fly ncbi_taxonomy horn fly Lyperosia irritans Haematobia iritans Haematobia irritans (Linnaeus, 1758) Populus balsamifera Class imported / merged by efoimporter GC_ID:1 NCBITaxon:73824 Populus balsamifera L. balsam poplar hackmatack ncbi_taxonomy hackmatack Populus balsamifera L. balsam poplar Arthroderma uncinatum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:74035 Trichophyton ajelloi ncbi_taxonomy Trichophyton ajelloi Photobacterium profundum Class imported / merged by efoimporter GC_ID:11 NCBITaxon:74109 Photobacterium profundum Nogi et al. 1998 ncbi_taxonomy Photobacterium profundum Nogi et al. 1998 Nasonia vitripennis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7425 Nasonia vitripennis (Walker, 1836) jewel wasp ncbi_taxonomy jewel wasp Nasonia vitripennis (Walker, 1836) Prochlorococcus marinus str. MIT 9312 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:74546 Prochlorococcus sp. MIT 9312 Prochlorococcus sp. MIT9312 ncbi_taxonomy Prochlorococcus sp. MIT 9312 Prochlorococcus sp. MIT9312 Prochlorococcus marinus str. MIT 9313 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:74547 Prochlorococcus marinus MIT9313 Prochlorococcus sp. MIT 9313 Prochlorococcus sp. MIT9313 ncbi_taxonomy Prochlorococcus marinus MIT9313 Prochlorococcus sp. MIT 9313 Prochlorococcus sp. MIT9313 Apis mellifera Apis mellifica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7460 bee honey bee honeybee ncbi_taxonomy honey bee honeybee Apis mellifica bee Apis cerana Apis cerena Apis mellifera cerana Asiatic honeybee Class imported / merged by efoimporter Easteren honeybee GC_ID:1 Indian honeybee NCBITaxon:7461 ncbi_taxonomy oriental honeybee Apis mellifera cerana Indian honeybee Asiatic honeybee Apis cerena oriental honeybee Easteren honeybee Aspergillus fumigatus Aspergillus fumigates Class imported / merged by efoimporter GC_ID:1 NCBITaxon:746128 Neosartorya fumigata Sartorya fumigata ncbi_taxonomy Neosartorya fumigata Aspergillus fumigates Sartorya fumigata Apis dorsata Apis mellifera dorsata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7462 giant honeybee ncbi_taxonomy rock honeybee Apis mellifera dorsata giant honeybee rock honeybee Apis florea Apis mellifera florea Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7463 dwarf honeybee little honeybee ncbi_taxonomy little honeybee Apis mellifera florea dwarf honeybee Rosa gallica Class imported / merged by efoimporter French rose GC_ID:1 NCBITaxon:74632 Rosa gallica L. apothecary rose ncbi_taxonomy red-rose-of-Lancaster red-rose-of-Lancaster Rosa gallica L. apothecary rose French rose Rosa lucieae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:74648 Rosa luciae Rosa wichuraiana Rosa wichurana memorial rose ncbi_taxonomy Rosa luciae Rosa wichuraiana memorial rose Rosa wichurana Rosa chinensis China rose Class imported / merged by efoimporter GC_ID:1 NCBITaxon:74649 Rosa chinesis ncbi_taxonomy Rosa chinesis China rose Apis mellifera ligustica Apis mellifera ligustica Spinola, 1806 Class imported / merged by efoimporter GC_ID:1 Italian honeybee NCBITaxon:7469 common honey bee common honeybee ncbi_taxonomy common honey bee Apis mellifera ligustica Spinola, 1806 common honeybee Italian honeybee Pasteurella multocida Bacterium multocidum Class imported / merged by efoimporter GC_ID:11 Micrococcus gallicidus NCBITaxon:747 Pasteurella cholerae-gallinarum Pasteurella gallicida Pateurella multocida ncbi_taxonomy Micrococcus gallicidus Bacterium multocidum Pasteurella cholerae-gallinarum Pasteurella gallicida Pateurella multocida Oncorhynchus tshawytscha Chinook salmon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:74940 Oncorhynchus tschawytscha Oncorhynchus tshawytscha (Walbaum, 1792) Oncorhynchus tshawytsha king salmon ncbi_taxonomy Oncorhynchus tshawytscha (Walbaum, 1792) king salmon Oncorhynchus tschawytscha Oncorhynchus tshawytsha Chinook salmon Populus euphratica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:75702 Popolus euphratica Populus diversifolia ncbi_taxonomy Populus diversifolia Popolus euphratica Lytechinus pictus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7653 ncbi_taxonomy painted sea urchin painted urchin painted urchin painted sea urchin Strongylocentrotus purpuratus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7668 Strongylocentrotus purpuratus (Stimpson, 1857) ncbi_taxonomy purple sea urchin purple urchin purple sea urchin Strongylocentrotus purpuratus (Stimpson, 1857) purple urchin Spermophilus lateralis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:76772 golden-mantled ground squirrel ncbi_taxonomy golden-mantled ground squirrel Zea mays subsp. parviglumis Balsas teosinte Class imported / merged by efoimporter GC_ID:1 NCBITaxon:76912 Zea mays parviglumis ncbi_taxonomy teosinte Zea mays parviglumis teosinte Balsas teosinte Hordeum vulgare subsp. spontaneum Class imported / merged by efoimporter GC_ID:1 Hordeum spontaneum Hordeum vulgare subsp. spontaneum (K.Koch) Thell. NCBITaxon:77009 ncbi_taxonomy wild barley Hordeum spontaneum Hordeum vulgare subsp. spontaneum (K.Koch) Thell. wild barley Nuphar advena Class imported / merged by efoimporter GC_ID:1 NCBITaxon:77108 ncbi_taxonomy Dendroctonus ponderosae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:77166 mountain pine beetle ncbi_taxonomy mountain pine beetle Ciona intestinalis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7719 ncbi_taxonomy Microsporum ferrugineum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:77205 ncbi_taxonomy Branchiostoma belcheri Belcher's lancelet Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7741 ncbi_taxonomy Belcher's lancelet Petromyzon marinus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7757 marine lamprey ncbi_taxonomy sea lamprey marine lamprey sea lamprey Coxiella burnetii Class imported / merged by efoimporter Coxiella burnetii (Derrick 1939) Philip 1948 Coxiella burnetii8 GC_ID:11 NCBITaxon:777 Rickettsia burneti Rickettsia diaporica ncbi_taxonomy Rickettsia burneti Coxiella burnetii (Derrick 1939) Philip 1948 NCBITaxonRef:sic_Derrick_1939 Rickettsia burneti Rickettsia diaporica Coxiella burnetii8 NCBITaxonRef:Cox_1939 Rickettsia diaporica Leucoraja erinacea Class imported / merged by efoimporter GC_ID:1 Leucoraja erinacea (Mitchill, 1825) NCBITaxon:7782 Raja erinacea Raja erinacia little skate ncbi_taxonomy Raja erinacia little skate Leucoraja erinacea (Mitchill, 1825) Raja erinacea Rickettsia conorii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:781 Rickettsia conorii Brumpt 1932 ncbi_taxonomy Rickettsia conorii Brumpt 1932 Rickettsia prowazekii Class imported / merged by efoimporter GC_ID:11 NCBITaxon:782 Rickettsia prowazekii da Rocha-Lima 1916 ncbi_taxonomy Rickettsia prowazekii da Rocha-Lima 1916 Rickettsia rickettsii Class imported / merged by efoimporter Dermacentroxenus rickettsii GC_ID:11 NCBITaxon:783 Rickettsia rickettsii (Wolbach 1919) Brumpt 1922 ncbi_taxonomy Dermacentroxenus rickettsii NCBITaxonRef:Wolbach_1919 Dermacentroxenus rickettsii Rickettsia rickettsii (Wolbach 1919) Brumpt 1922 Scyliorhinus canicula Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7830 Scyliorhinus canicula (Linnaeus, 1758) Scyliorhinus caniculus ncbi_taxonomy smaller spotted catshark smaller spotted dogfish spotted catshark spotted dogfish smaller spotted catshark smaller spotted dogfish spotted dogfish Scyliorhinus canicula (Linnaeus, 1758) Scyliorhinus caniculus spotted catshark Orientia tsutsugamushi Class imported / merged by efoimporter GC_ID:11 NCBITaxon:784 Rickettsia akamushi Rickettsia orientalis Rickettsia tsutsugamushi Theileria tsutsugamushi ncbi_taxonomy Rickettsia tsutsugamushi Rickettsia akamushi Theileria tsutsugamushi Rickettsia orientalis Ribes nigrum Class imported / merged by efoimporter European black currant GC_ID:1 NCBITaxon:78511 ncbi_taxonomy European black currant Callorhinchus milii Callorhynchus milii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7868 ghost shark ncbi_taxonomy Callorhynchus milii ghost shark Fusarium globosum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:78864 ncbi_taxonomy Rana chensinensis Asiatic grass frog Chinese brown frog Class imported / merged by efoimporter Far Eastern wood frog GC_ID:1 Inkiapo frog NCBITaxon:79015 Rana chensinensis David, 1875 Rana temporaria chensinensis ncbi_taxonomy Asiatic grass frog Far Eastern wood frog Chinese brown frog Inkiapo frog Rana chensinensis David, 1875 Rana temporaria chensinensis Rana pirica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:79017 ncbi_taxonomy Schmidtea mediterranea Class imported / merged by efoimporter Dugesia (Schmidtea) mediterranea Dugesia mediterranea GC_ID:1 NCBITaxon:79327 freshwater planarian ncbi_taxonomy Dugesia mediterranea freshwater planarian Dugesia (Schmidtea) mediterranea Anguilla anguilla Angill angill Class imported / merged by efoimporter European eel European freshwater eel GC_ID:1 Muraena anguilla NCBITaxon:7936 ncbi_taxonomy Muraena anguilla Angill angill European eel European freshwater eel Danio rerio Brachidanio rerio Brachydanio rerio Brachydanio rerio frankei Class imported / merged by efoimporter Cyprinus rerio Cyprinus rerio Hamilton, 1822 Danio frankei Danio rerio (Hamilton, 1822) Danio rerio frankei GC_ID:1 James Malone NCBITaxon:7955 leopard danio ncbi_taxonomy zebra danio zebra fish zebrafish zebrafish Danio rerio (Hamilton, 1822) Cyprinus rerio Danio rerio frankei Danio frankei Cyprinus rerio Hamilton, 1822 Brachydanio rerio leopard danio Brachydanio rerio frankei zebra danio zebra fish Brachidanio rerio Carassius auratus Carassius carassius auratus Class imported / merged by efoimporter Cyprinus auratus GC_ID:1 NCBITaxon:7957 goldfish ncbi_taxonomy Cyprinus auratus goldfish Carassius carassius auratus Cyprinus carpio Class imported / merged by efoimporter Cyprinus cyprio Cyrpinus carpio GC_ID:1 NCBITaxon:7962 carp common carp ncbi_taxonomy carp Cyrpinus carpio common carp Cyprinus cyprio Hypophthalmichthys Aristichthys Class imported / merged by efoimporter GC_ID:1 NCBITaxon:7963 ncbi_taxonomy Aristichthys Human respiratory syncytial virus B1 Class imported / merged by efoimporter GC_ID:1 Human respiratory syncytial virus (strain B1) NCBITaxon:79692 ncbi_taxonomy Human respiratory syncytial virus (strain B1) Cimex lectularius Class imported / merged by efoimporter GC_ID:1 NCBITaxon:79782 bed bug ncbi_taxonomy bed bug Andropogon gerardii Andropogon gerardii Vitman Class imported / merged by efoimporter GC_ID:1 NCBITaxon:79824 ncbi_taxonomy Andropogon gerardii Vitman Clonorchis sinensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:79923 ncbi_taxonomy oriental liver fluke oriental liver fluke Ictalurus punctatus Class imported / merged by efoimporter GC_ID:1 Ictalurus punctatus (Rafinesque, 1818) NCBITaxon:7998 Silurus punctatus channel catfish ncbi_taxonomy channel catfish Silurus punctatus Ictalurus punctatus (Rafinesque, 1818) Osmerus mordax Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8014 Osmerus mordax (Mitchill, 1814) ncbi_taxonomy rainbow smelt rainbow smelt Osmerus mordax (Mitchill, 1814) Oncorhynchus gorbuscha Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8017 Oncorhynchus gorbuscha (Walbaum, 1792) humpback salmon ncbi_taxonomy pink salmon humpback salmon pink salmon Oncorhynchus gorbuscha (Walbaum, 1792) Oncorhynchus kisutch Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8019 Oncorhynchus kisutch (Walbaum, 1792) Oncorhyncus kisutch coho salmon ncbi_taxonomy Oncorhynchus kisutch (Walbaum, 1792) Oncorhyncus kisutch coho salmon Oncorhynchus mykiss Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8022 Onchorhynchus mykiss Parasalmo mykiss Salmo mykiss ncbi_taxonomy rainbow trout Salmo mykiss Parasalmo mykiss Onchorhynchus mykiss rainbow trout Oncorhynchus nerka Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8023 Oncorhynchus nerka (Walbaum, 1792) ncbi_taxonomy sockeye salmon Oncorhynchus nerka (Walbaum, 1792) sockeye salmon Bartonella quintana Bartonella quintana (Schmincke 1917) Brenner et al. 1993 Burnetia (Rocha-limae) wolhynica Class imported / merged by efoimporter GC_ID:11 NCBITaxon:803 Rickettsia pediculi Rickettsia quintana Rickettsia weigli Rickettsia wolhynica Rochalimaea quintana Rochalimaea quintana (Schmincke 1917) Krieg 1961 (Approved Lists 1980) Wolhynia qintanae ncbi_taxonomy NCBITaxonRef:Munk_and_da_Rocha-Lima_1917 Rickettsia pediculi Wolhynia qintanae Rickettsia quintana NCBITaxonRef:Mosing_1936 Rickettsia weigli NCBITaxonRef:Schmincke_1917 Rickettsia quintana Rickettsia wolhynica Rickettsia pediculi Burnetia (Rocha-limae) wolhynica Rochalimaea quintana Bartonella quintana (Schmincke 1917) Brenner et al. 1993 Burnetia (Rocha-limae) wolhynica NCBITaxonRef:Macchiavello_1947 NCBITaxonRef:Jungmann_and_Kuczynski_1918 Rickettsia wolhynica Rickettsia weigli Rochalimaea quintana (Schmincke 1917) Krieg 1961 (Approved Lists 1980) NCBITaxonRef:sic_Zhdanov_and_Korenblit_1950 Wolhynia qintanae Salmo salar Atlantic salmon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8030 Salmo salar Linnaeus, 1758 ncbi_taxonomy Atlantic salmon Salmo salar Linnaeus, 1758 Salmo trutta Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8032 brown trout ncbi_taxonomy brown trout Salvelinus alpinus Arctic char Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8036 Salvelinus alpinus (Linnaeus, 1758) ncbi_taxonomy Arctic char Salvelinus alpinus (Linnaeus, 1758) Salvelinus fontinalis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8038 Salvelinus fontinalis (Mitchill, 1814) brook trout ncbi_taxonomy brook trout Salvelinus fontinalis (Mitchill, 1814) Gadus morhua Atlantic cod Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8049 ncbi_taxonomy Atlantic cod Fundulus heteroclitus Atlantic killifish Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8078 killifish mummichog ncbi_taxonomy mummichog Atlantic killifish killifish Poecilia reticulata Acanthophacelus reticulata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8081 Poecilia (Acanthophacelus) reticulata guppy ncbi_taxonomy Acanthophacelus reticulata guppy Poecilia (Acanthophacelus) reticulata Xiphophorus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8082 ncbi_taxonomy Oryzias latipes Class imported / merged by efoimporter GC_ID:1 Japanese medaka Japanese rice fish NCBITaxon:8090 medaka ncbi_taxonomy Japanese medaka medaka Japanese rice fish Pomacentrus moluccensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:80956 Pomacentrus moluccensis Bleeker, 1853 lemon damsel ncbi_taxonomy Pomacentrus moluccensis Bleeker, 1853 lemon damsel artificial sequences Class imported / merged by efoimporter GC_ID:11 NCBITaxon:81077 ncbi_taxonomy Oreochromis niloticus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8128 Nile tilapia Oreochromis nilonica Oreochromis nilotica Tilapia nilotica ncbi_taxonomy Oreochromis nilonica Oreochromis nilotica Tilapia nilotica Nile tilapia Chlamydia trachomatis Chlamydozoon trachomatis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:813 Rickettsia trachomae Rickettsia trachomatis ncbi_taxonomy Rickettsia trachomae Rickettsia trachomatis Chlamydozoon trachomatis Alopecurus myosuroides Alopecurus agrestis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:81473 ncbi_taxonomy Alopecurus agrestis Astatotilapia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8152 ncbi_taxonomy Haplochromis burtoni Astatotilapia burtoni Chromis burtoni Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8153 ncbi_taxonomy Chromis burtoni Astatotilapia burtoni Bacteroides Capsularis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:816 Ristella ncbi_taxonomy Ristella Capsularis Lateolabrax japonicus Class imported / merged by efoimporter GC_ID:1 Japanese seabass NCBITaxon:8164 ncbi_taxonomy suzuki suzuki Japanese seabass Bacteroides fragilis Bacillus fragilis Bacteroides fragili Bacteroides inaequalis Bacteroides incommunis Bacteroides uncatus Class imported / merged by efoimporter Fusiformis fragilis GC_ID:11 NCBITaxon:817 Pseudobacterium fragilis Pseudobacterium inaequalis Pseudobacterium incommunis Pseudobacterium uncatum Ristella fragilis Ristella incommunis Ristella uncata Sphaerophorus inaequalis Sphaerophorus intermedius ncbi_taxonomy Bacteroides fragili Sphaerophorus intermedius Ristella uncata Bacteroides uncatus Bacteroides inaequalis Pseudobacterium inaequalis Fusiformis fragilis Ristella incommunis Ristella fragilis Bacteroides incommunis Pseudobacterium fragilis Bacillus fragilis Sphaerophorus inaequalis Pseudobacterium incommunis Pseudobacterium uncatum Sparus aurata Aurata aurata Chrysophrys auratus (Linnaeus, 1758) Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8175 Pagrus auratus (Linnaeus, 1758) Sparus auratus gilthead bream gilthead seabream ncbi_taxonomy silver seabream Sparus auratus Pagrus auratus (Linnaeus, 1758) gilthead seabream gilthead bream Aurata aurata Chrysophrys auratus (Linnaeus, 1758) silver seabream Bacteroides thetaiotaomicron Bacillus thetaiotaomicron Bacteroides fragilis subsp. thetaiotaomicron Class imported / merged by efoimporter GC_ID:11 NCBITaxon:818 Pseudobacterium thetaiotaomicron Sphaerocillus thetaiotaomicron ncbi_taxonomy Pseudobacterium thetaiotaomicron Sphaerocillus thetaiotaomicron Bacillus thetaiotaomicron Bacteroides fragilis subsp. thetaiotaomicron Monosiga brevicollis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:81824 ncbi_taxonomy Trichophyton terrestre Class imported / merged by efoimporter GC_ID:1 NCBITaxon:81845 ncbi_taxonomy Arthroderma cajetani Class imported / merged by efoimporter GC_ID:1 Microsporum cookei NCBITaxon:81846 Nannizzia cajetani ncbi_taxonomy Nannizzia cajetani Microsporum cookei Arabidopsis halleri Arabidopsis halleri (L.) O'Kane & Al-Shehbaz Class imported / merged by efoimporter GC_ID:1 NCBITaxon:81970 ncbi_taxonomy Arabidopsis halleri (L.) O'Kane & Al-Shehbaz Capsella rubella Class imported / merged by efoimporter GC_ID:1 NCBITaxon:81985 ncbi_taxonomy Bacteroides vulgatus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:821 ncbi_taxonomy Gillichthys mirabilis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8222 long-jawed mudsucker ncbi_taxonomy long-jawed mudsucker Lilium regale Class imported / merged by efoimporter GC_ID:1 NCBITaxon:82328 ncbi_taxonomy Thunnus thynnus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8237 bluefin tuna ncbi_taxonomy northern bluefin tuna northern bluefin tuna bluefin tuna Amphiura filiformis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:82378 ncbi_taxonomy Platichthys flesus Class imported / merged by efoimporter European flounder GC_ID:1 NCBITaxon:8260 Platichthys flessus Platichthys flesus (Linnaeus, 1758) Platicthys flesus ncbi_taxonomy European flounder Platichthys flessus Platicthys flesus Platichthys flesus (Linnaeus, 1758) Hippoglossus hippoglossus Atlantic halibut Class imported / merged by efoimporter GC_ID:1 Hippoglossus hippoglossus (Linnaeus, 1758) NCBITaxon:8267 ncbi_taxonomy Atlantic halibut Hippoglossus hippoglossus (Linnaeus, 1758) Salmonella enterica subsp. enterica serovar Muenster Class imported / merged by efoimporter GC_ID:11 NCBITaxon:82689 Salmonella enteritidis serotype muenster Salmonella muenster ncbi_taxonomy Salmonella enteritidis serotype muenster Salmonella muenster Ambystoma mexicanum Ambystoma mexicanum (Shaw & Nodder, 1798) Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8296 axolotl ncbi_taxonomy axolotl Ambystoma mexicanum (Shaw & Nodder, 1798) Notophthalmus viridescens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8316 Notophthalmus viridiscens Notopthalmus viridescens Triturus viridescens eastern newt ncbi_taxonomy red-spotted newt eastern newt Triturus viridescens Notophthalmus viridiscens red-spotted newt Notopthalmus viridescens Mycobacterium tuberculosis CDC1551 Class imported / merged by efoimporter GC_ID:11 Mycobacterium tuberculosis CSU#93 NCBITaxon:83331 ncbi_taxonomy Mycobacterium tuberculosis CSU#93 Mycobacterium tuberculosis H37Rv Class imported / merged by efoimporter GC_ID:11 Mycobacterium tuberculosis str. H37Rv Mycobacterium tuberculosis strain H37Rv NCBITaxon:83332 ncbi_taxonomy Mycobacterium tuberculosis strain H37Rv Mycobacterium tuberculosis str. H37Rv Escherichia coli K-12 Class imported / merged by efoimporter Escherichia coli K12 GC_ID:11 NCBITaxon:83333 ncbi_taxonomy Escherichia coli K12 Escherichia coli O157:H7 Class imported / merged by efoimporter Escherichia coli 0157:H7 GC_ID:11 NCBITaxon:83334 ncbi_taxonomy Escherichia coli 0157:H7 Lactobacillus paralimentarius Class imported / merged by efoimporter GC_ID:11 Lactobacillus paraalimentarius Lactobacillus paralimentarius Cai et al. 1999 NCBITaxon:83526 ncbi_taxonomy Lactobacillus paraalimentarius Lactobacillus paralimentarius Cai et al. 1999 Xenopus laevis African clawed frog Bufo laevis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8355 Xenopus laevis (Daudin, 1802) Xenopus leavis clawed frog common platanna ncbi_taxonomy platanna Bufo laevis clawed frog African clawed frog common platanna Xenopus leavis Xenopus laevis (Daudin, 1802) platanna Xenopus (Silurana) tropicalis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8364 Silurana tropicalis Xenopus laevis tropicalis Xenopus tropicalis ncbi_taxonomy western clawed frog Xenopus laevis tropicalis Xenopus tropicalis western clawed frog Silurana tropicalis Porphyromonas gingivalis Bacteroides gingivalis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:837 ncbi_taxonomy Bacteroides gingivalis Methanobrevibacter ruminantium Class imported / merged by efoimporter GC_ID:11 Methanobacterium ruminantium NCBITaxon:83816 ncbi_taxonomy Methanobacterium ruminantium Bufo marinus Bufo marinus (Linnaeus, 1758) Chaunus marinus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8386 Rana marina Rhinella marina Rhinella marinus cane toad giant toad marine toad ncbi_taxonomy Rana marina Bufo marinus (Linnaeus, 1758) giant toad Rhinella marina marine toad Chaunus marinus Rhinella marinus cane toad Synechococcus sp. WH 8102 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:84588 Synechococcus WH8102 Synechococcus sp. WH8102 ncbi_taxonomy Synechococcus sp. WH8102 Synechococcus WH8102 Fusobacterium nucleatum Class imported / merged by efoimporter Corynebacterium fusiforme Fusibacterium nucleatum Fusiformis fusiformis Fusiformis nucleatus Fusobacterium fusiforme Fusobacterium plauti-vincenti GC_ID:11 NCBITaxon:851 ncbi_taxonomy Fusobacterium fusiforme Fusiformis fusiformis Fusobacterium plauti-vincenti Fusiformis nucleatus Fusibacterium nucleatum Corynebacterium fusiforme Scylla paramamosain Class imported / merged by efoimporter GC_ID:1 NCBITaxon:85552 green mud crab ncbi_taxonomy green mud crab Streptomyces turgidiscabies Class imported / merged by efoimporter GC_ID:11 NCBITaxon:85558 Streptomyces turgidiscabiei ncbi_taxonomy Streptomyces turgidiscabiei Citrus reticulata Citrus poonensis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:85571 mandarin orange ncbi_taxonomy tangerine mandarin orange tangerine Citrus poonensis Candidatus Phytoplasma asteris 16SrI (Aster yellows group) Candidatus Phytoplasma asteri Class imported / merged by efoimporter GC_ID:11 NCBITaxon:85620 Phytoplasma asteris ncbi_taxonomy Candidatus Phytoplasma asteri 16SrI (Aster yellows group) Phytoplasma asteris Citrus clementina Citrus clementina hort. ex Tanaka Class imported / merged by efoimporter GC_ID:1 NCBITaxon:85681 ncbi_taxonomy Citrus clementina hort. ex Tanaka Triticum dicoccoides Class imported / merged by efoimporter GC_ID:1 NCBITaxon:85692 Triticum turgidum subsp. dicoccoides Triticum turgidum var. dicoccoides ncbi_taxonomy wild emmer wheat Triticum turgidum var. dicoccoides Triticum turgidum subsp. dicoccoides wild emmer wheat Helicobacter pylori 26695 Class imported / merged by efoimporter GC_ID:11 Helicobacter pylori (strain 26695) Helicobacter pylori ATCC 700392 Helicobacter pylori KE26695 Helicobacter pylori str. 26695 Helicobacter pylori strain 26695 NCBITaxon:85962 ncbi_taxonomy Helicobacter pylori str. 26695 Helicobacter pylori ATCC 700392 Helicobacter pylori strain 26695 Helicobacter pylori (strain 26695) Helicobacter pylori KE26695 Helicobacter pylori J99 Class imported / merged by efoimporter GC_ID:11 Helicobacter pylori str. J99 Helicobacter pylori strain J99 NCBITaxon:85963 ncbi_taxonomy Helicobacter pylori str. J99 Helicobacter pylori strain J99 Paxillus filamentosus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:85986 ncbi_taxonomy Leymus cinereus Class imported / merged by efoimporter GC_ID:1 Leymus cinereus (Scribn. & Merr.) A.Love NCBITaxon:86020 ncbi_taxonomy Leymus cinereus (Scribn. & Merr.) A.Love Leymus triticoides Class imported / merged by efoimporter GC_ID:1 Leymus triticoides (Buckley) Pilg. NCBITaxon:86021 ncbi_taxonomy Leymus triticoides (Buckley) Pilg. Bacillus weihenstephanensis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:86662 ncbi_taxonomy Dichelobacter nodosus Bacteroides nodosus Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980) Class imported / merged by efoimporter Dichelobacter nodosus (Beveridge 1941) Dewhirst et al. 1990 Fusiformis nodosus GC_ID:11 NCBITaxon:870 Organism K Ristella nodosa ncbi_taxonomy NCBITaxonRef:Beveridge_1938 Organism K Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980) Ristella nodosa Fusiformis nodosus NCBITaxonRef:Beveridge_1941 Bacteroides nodosus NCBITaxonRef:Beveridge_1941_Prevot_1948 Ristella nodosa Organism K Dichelobacter nodosus (Beveridge 1941) Dewhirst et al. 1990 Fusiformis nodosus Ogataea angusta Class imported / merged by efoimporter GC_ID:1 Hansenula polymorpha NCBITaxon:870730 Pichia angusta ncbi_taxonomy Pichia angusta Hansenula polymorpha Geospiza difficilis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:87173 ncbi_taxonomy Crotalus atrox Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8730 ncbi_taxonomy western diamondback rattlesnake western diamondback rattlesnake Cyclamen persicum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:87530 ncbi_taxonomy Eucalyptus nitens Class imported / merged by efoimporter GC_ID:1 NCBITaxon:87674 ncbi_taxonomy Burkholderia multivorans Burkholderia cepacia genomovar II Class imported / merged by efoimporter GC_ID:11 NCBITaxon:87883 ncbi_taxonomy Burkholderia cepacia genomovar II Selaginella moellendorffii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:88036 Selaginella moellendorffii Hieron. Selaginella moellendorfii ncbi_taxonomy Selaginella moellendorfii Selaginella moellendorffii Hieron. Desulfovibrio vulgaris Class imported / merged by efoimporter Desulfovibrio vulgaris vulgaris GC_ID:11 NCBITaxon:881 ncbi_taxonomy Desulfovibrio vulgaris vulgaris Desulfovibrio vulgaris str. Hildenborough Class imported / merged by efoimporter Desulfovibrio vulgaris (STRAIN HILDENBOROUGH) Desulfovibrio vulgaris ATCC 29579 Desulfovibrio vulgaris Hildenborough Desulfovibrio vulgaris subsp. vulgaris (strain Hildenborough) Desulfovibrio vulgaris subsp. vulgaris ATCC 29579 Desulfovibrio vulgaris subsp. vulgaris str. Hildenborough Desulfovibrio vulgaris vulgaris (strain Hildenborough) GC_ID:11 NCBITaxon:882 ncbi_taxonomy Desulfovibrio vulgaris vulgaris (strain Hildenborough) Desulfovibrio vulgaris subsp. vulgaris str. Hildenborough Desulfovibrio vulgaris subsp. vulgaris ATCC 29579 Desulfovibrio vulgaris subsp. vulgaris (strain Hildenborough) Desulfovibrio vulgaris (STRAIN HILDENBOROUGH) Desulfovibrio vulgaris Hildenborough Desulfovibrio vulgaris ATCC 29579 Petrolisthes cinctipes Class imported / merged by efoimporter GC_ID:1 NCBITaxon:88211 flat porcelain crab ncbi_taxonomy flat porcelain crab Anas platyrhynchos Anas boschas Anas domesticus Anas platyrhynchus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8839 duck mallard mallard duck mallard ducks ncbi_taxonomy mallard duck Anas boschas Anas platyrhynchus mallard ducks mallard Anas domesticus duck Trialeurodes vaporariorum Class imported / merged by efoimporter GC_ID:1 NCBITaxon:88556 Trialeurodes vaporarium greenhouse whitefly ncbi_taxonomy greenhouse whitefly Trialeurodes vaporarium Ruegeria pomeroyi Class imported / merged by efoimporter GC_ID:11 NCBITaxon:89184 Silicibacter pomeroyi ncbi_taxonomy Silicibacter pomeroyi Columba livia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8932 Rock pigeon domestic pigeon ncbi_taxonomy Rock pigeon domestic pigeon Bubalus bubalis Bubalis arnee bubalis Bubalis bubalis Bubalus arnee Bubalus arnee bubalis Bubalus bubalus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:89462 domestic water buffalo ncbi_taxonomy river buffalo water buffalo Bubalus arnee water buffalo Bubalis arnee bubalis Bubalus arnee bubalis Bubalus bubalus domestic water buffalo Bubalis bubalis river buffalo Gyps Class imported / merged by efoimporter GC_ID:1 NCBITaxon:8965 ncbi_taxonomy Saccharomyces bayanus x Saccharomyces cerevisiae Class imported / merged by efoimporter GC_ID:1 NCBITaxon:89981 ncbi_taxonomy Buchnera aphidicola Buchnera aphidicola Munson et al. 1991 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:9 ncbi_taxonomy Buchnera aphidicola Munson et al. 1991 Salmonella enterica subsp. enterica serovar Saintpaul Class imported / merged by efoimporter GC_ID:11 NCBITaxon:90105 Salmonella enterica serovar Saintpaul Salmonella enterica subsp. enterica serovar Saint Paul Salmonella enteritidis serovar Saintpaul Salmonella saintpaul ncbi_taxonomy Salmonella enterica serovar Saintpaul Salmonella enterica subsp. enterica serovar Saint Paul Salmonella saintpaul Salmonella enteritidis serovar Saintpaul Colinus virginianus Class imported / merged by efoimporter Colinus virginuanus GC_ID:1 NCBITaxon:9014 bobwhite quail common bobwhite ncbi_taxonomy northern bobwhite common bobwhite bobwhite quail northern bobwhite Colinus virginuanus Gallus gallus Class imported / merged by efoimporter GC_ID:1 Gallus domesticus Gallus gallus domesticus James Malone NCBITaxon:9031 bantam chicken chickens ncbi_taxonomy Gallus domesticus chickens chicken bantam Gallus gallus domesticus Salmonella enterica subsp. enterica serovar Typhi Bacillus typhi Bacterium (subgen. Eberthella) typhi Class imported / merged by efoimporter GC_ID:11 NCBITaxon:90370 Salmonella choleraesuis serovar Typhi Salmonella choleraesuis typhi Salmonella enterica ser. typhi Salmonella enterica serotype Typhi Salmonella enterica serovar Typhi Salmonella typhi ncbi_taxonomy Salmonella enterica serovar Typhi Bacillus typhi Salmonella choleraesuis serovar Typhi Salmonella enterica ser. typhi Salmonella choleraesuis typhi Salmonella typhi Salmonella enterica serotype Typhi Bacterium (subgen. Eberthella) typhi Salmonella enterica subsp. enterica serovar Typhimurium Bacillus typhimurium Class imported / merged by efoimporter GC_ID:11 NCBITaxon:90371 Salmonella choleraesuis serotype typhimurium Salmonella enterica 1,4,[5],12,:i:1,2 Salmonella enterica ser. typhimurium Salmonella enterica serotype Typhimurium Salmonella enterica serovar Typhimurium Salmonella enterica subsp. enterica serovar 1,4,[5],12,:i:1,2 Salmonella typhi-murium Salmonella typhimurium Samonella typhimurium ncbi_taxonomy Salmonella enterica serotype Typhimurium Samonella typhimurium Salmonella enterica subsp. enterica serovar 1,4,[5],12,:i:1,2 Salmonella enterica ser. typhimurium Salmonella enterica serovar Typhimurium Salmonella typhi-murium Salmonella choleraesuis serotype typhimurium Salmonella enterica 1,4,[5],12,:i:1,2 Bacillus typhimurium Salmonella typhimurium Lophura nycthemera Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9046 ncbi_taxonomy silver pheasant silver pheasant Pavo cristatus Class imported / merged by efoimporter GC_ID:1 Indian peafowl NCBITaxon:9049 blue peafowl ncbi_taxonomy blue peafowl Indian peafowl Macroptilium atropurpureum Class imported / merged by efoimporter GC_ID:1 Macroptilium atropurpureum (DC.) Urb. NCBITaxon:90550 ncbi_taxonomy Macroptilium atropurpureum (DC.) Urb. Chrysolophus amherstiae Class imported / merged by efoimporter GC_ID:1 Lady Amherst's pheasant NCBITaxon:9088 ncbi_taxonomy Lady Amherst's pheasant Chrysolophus pictus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9089 golden pheasant ncbi_taxonomy golden pheasant Australian bat lyssavirus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:90961 ncbi_taxonomy Pimephales promelas Class imported / merged by efoimporter GC_ID:1 NCBITaxon:90988 fathead minnow ncbi_taxonomy fathead minnow Meleagris gallopavo Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9103 common turkey ncbi_taxonomy turkey wild turkey wild turkey turkey common turkey Polistes metricus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:91422 ncbi_taxonomy Nitrosomonas europaea Bacterium nitrosomonas Class imported / merged by efoimporter GC_ID:11 NCBITaxon:915 Nitrosomonas europaea Winogradsky 1892 Planococcus europaeus Pseudomonas europaea ncbi_taxonomy Pseudomonas europaea Bacterium nitrosomonas NCBITaxonRef:Lehmann_and_Neumann_1899 Planococcus europaeus Bacterium nitrosomonas NCBITaxonRef:Winogradsky_1892_Vuillemin_1913 Planococcus europaeus Nitrosomonas europaea Winogradsky 1892 NCBITaxonRef:Winogradsky_1892_Migula_1895 Pseudomonas europaea Acidithiobacillus ferrooxidans Acidithiobacillus ferroxidans Class imported / merged by efoimporter Ferrobacillus ferrooxidans Ferrobacillus sulfooxidans GC_ID:11 NCBITaxon:920 Thiobacillus ferrooxidans Thiobacillus ferrooxidans@ Tiobacillus ferroxidant ncbi_taxonomy Thiobacillus ferrooxidans@ Tiobacillus ferroxidant Ferrobacillus ferrooxidans Ferrobacillus sulfooxidans Acidithiobacillus ferroxidans Thiobacillus ferrooxidans Bartonella koehlerae Bartonella koehlerae Droz et al. 2000 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:92181 ncbi_taxonomy Bartonella koehlerae Droz et al. 2000 Aptenodytes patagonicus Aptenodytes patagonica Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9234 king penguin ncbi_taxonomy king penguin Aptenodytes patagonica Calypte anna Anna's hummingbird Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9244 ncbi_taxonomy Anna's hummingbird Ornithorhynchus anatinus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9258 Ornythorhynchus anatinus duck-billed platypus duckbill platypus ncbi_taxonomy platypus duckbill platypus duck-billed platypus Ornythorhynchus anatinus platypus Tachyglossus aculeatus Australian echidna Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9261 ncbi_taxonomy short-beaked echidna Australian echidna short-beaked echidna Sarcophilus harrisii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9305 Sarcophilus laniarius Tasmanian devil ncbi_taxonomy Tasmanian devil Sarcophilus laniarius Staphylococcus aureus subsp. aureus NCTC 8325 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:93061 Staphylococcus aureus NCTC 8325 Staphylococcus aureus subsp. aureus str. NCTC 8325 Staphylococcus aureus subsp. aureus strain NCTC 8325 ncbi_taxonomy Staphylococcus aureus subsp. aureus strain NCTC 8325 Staphylococcus aureus subsp. aureus str. NCTC 8325 Staphylococcus aureus NCTC 8325 Staphylococcus aureus subsp. aureus COL Class imported / merged by efoimporter GC_ID:11 NCBITaxon:93062 Staphylococcus aureus COL ncbi_taxonomy Staphylococcus aureus COL Macropus eugenii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9315 ncbi_taxonomy tammar wallaby tammar wallaby Dasypus novemcinctus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9361 ncbi_taxonomy nine-banded armadillo nine-banded armadillo Thermotoga petrophila Class imported / merged by efoimporter GC_ID:11 NCBITaxon:93929 ncbi_taxonomy Coturnix japonica Class imported / merged by efoimporter Coturnix coturnix japonica GC_ID:1 Japanese quail NCBITaxon:93934 ncbi_taxonomy Japanese quail Coturnix coturnix japonica Epinephelus coioides Class imported / merged by efoimporter Epinephelum coioides Epinephelus coioides (Hamilton, 1822) GC_ID:1 NCBITaxon:94232 estuary cod estuary rock cod ncbi_taxonomy orange-spotted grouper Epinephelum coioides orange-spotted grouper Epinephelus coioides (Hamilton, 1822) estuary cod estuary rock cod Sterkiella histriomuscorum Class imported / merged by efoimporter GC_ID:6 NCBITaxon:94289 Oxytricha trifallax ncbi_taxonomy Oxytricha trifallax Crassostrea ariakensis Class imported / merged by efoimporter Crassostrea ariakensis (Fujita, 1913) Crassostrea ariakesis GC_ID:1 NCBITaxon:94323 Suminoe oyster ncbi_taxonomy Crassostrea ariakensis (Fujita, 1913) Crassostrea ariakesis Suminoe oyster Zingiber officinale Class imported / merged by efoimporter GC_ID:1 NCBITaxon:94328 ginger ncbi_taxonomy ginger Anaplasma phagocytophilum Anaplasma phagocytophila Class imported / merged by efoimporter Cytoecetes bovis Cytoecetes phagocytophila Ehrlichia equi Ehrlichia phagocytophila Ehrlichia sp. 'HGE agent' GC_ID:11 HGE agent NCBITaxon:948 Rickettsia phagocytophila Rickettsia phagocytophila ovis agent of human granulocytic ehrlichiosis human granulocytic Ehrlichia ncbi_taxonomy agent of human granulocytic ehrlichiosis Rickettsia phagocytophila human granulocytic Ehrlichia Ehrlichia phagocytophila HGE agent Ehrlichia equi Ehrlichia sp. 'HGE agent' Anaplasma phagocytophila Cytoecetes phagocytophila Cytoecetes bovis Rickettsia phagocytophila ovis Callithrix jacchus Callithrix jacchus jacchus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9483 common marmoset ncbi_taxonomy white ear-tufted marmoset white-tufted-ear marmoset white-tufted-ear marmoset Callithrix jacchus jacchus white ear-tufted marmoset common marmoset Masticophis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:94898 ncbi_taxonomy Cercocebus atys Cercocebus torquatus atys Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9531 ncbi_taxonomy sooty mangabey Cercocebus torquatus atys sooty mangabey Chlorocebus aethiops African green monkey African green monkeys Cercopithecus aethiops Ceropithecus aethiops Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9534 green monkey grivet ncbi_taxonomy savanah monkey vervet monkey Cercopithecus aethiops savanah monkey green monkey grivet African green monkeys Ceropithecus aethiops vervet monkey African green monkey Macaca fascicularis Class imported / merged by efoimporter GC_ID:1 James Malone Macaca cynomolgus Macaca irus NCBITaxon:9541 crab eating macaque crab-eating macaque cynomolgus monkey cynomolgus monkeys long-tailed macaque ncbi_taxonomy Macaca cynomolgus long-tailed macaque cynomolgus monkey crab-eating macaque crab eating macaque cynomolgus monkeys Macaca irus Macaca mulatta Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9544 Rhesus monkey ncbi_taxonomy rhesus macaque rhesus macaques rhesus monkeys Rhesus monkey rhesus macaques rhesus macaque rhesus monkeys Macaca nemestrina Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9545 ncbi_taxonomy pig-tailed macaque pigtail macaque pigtail monkey pig-tailed macaque pigtail macaque pigtail monkey Macaca radiata Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9548 bonnet macaque ncbi_taxonomy bonnet macaque Burkholderia cenocepacia Burkholderia cepacia genomovar III Class imported / merged by efoimporter GC_ID:11 NCBITaxon:95486 ncbi_taxonomy Burkholderia cepacia genomovar III Wolbachia pipientis Class imported / merged by efoimporter GC_ID:11 NCBITaxon:955 ncbi_taxonomy Papio Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9554 baboons ncbi_taxonomy baboons Papio anubis Anubis baboon Class imported / merged by efoimporter Doguera baboon GC_ID:1 James Malone Kenya baboon NCBITaxon:9555 Olive baboon Papio cynocephalus anubis Papio doguera Papio hamadryas anubis Papio hamadryas doguera baboon ncbi_taxonomy Papio doguera Papio cynocephalus anubis Papio hamadryas doguera Olive baboon baboon Doguera baboon Kenya baboon Papio hamadryas anubis Anubis baboon Papio hamadryas Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9557 Papio hamadryas subsp. baboon hamadryas baboon ncbi_taxonomy red baboon sacred baboon western baboon Papio hamadryas subsp. red baboon baboon western baboon hamadryas baboon sacred baboon Bdellovibrio bacteriovorus Class imported / merged by efoimporter GC_ID:11 NCBITaxon:959 ncbi_taxonomy Gorilla gorilla Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9593 gorilla ncbi_taxonomy western gorilla gorilla western gorilla Gorilla gorilla gorilla Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9595 lowland gorilla ncbi_taxonomy western lowland gorilla lowland gorilla western lowland gorilla Pan paniscus Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9597 bonobo ncbi_taxonomy pygmy chimpanzee pygmy chimpanzee bonobo Pan troglodytes Chimpansee troglodytes Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9598 chimpanzee ncbi_taxonomy Chimpansee troglodytes chimpanzee Pongo pygmaeus Bornean orangutan Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9600 Orang-utan Orangutan ncbi_taxonomy orang utan Orang-utan orang utan Bornean orangutan Orangutan Pongo abelii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9601 Orang-utan Orangutan Pongo pygmaeus abeli Pongo pygmaeus abelii Sumatran orangutan ncbi_taxonomy orang utan Pongo pygmaeus abelii Orang-utan orang utan Pongo pygmaeus abeli Sumatran orangutan Orangutan Pongo pygmaeus pygmaeus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9602 ncbi_taxonomy Pongo sp. Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9603 ncbi_taxonomy Homo sapiens Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9606 Tomasz Adamusiak human man ncbi_taxonomy man human Canis lupus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9612 gray wolf grey wolf ncbi_taxonomy gray wolf grey wolf Canis lupus familiaris Canis canis Canis domesticus Canis familiaris Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9615 dog dogs ncbi_taxonomy dog Canis canis Canis domesticus dogs Canis familiaris Vulpes vulpes Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9627 Vulpes vulpes var. ncbi_taxonomy red fox silver fox silver fox red fox Vulpes vulpes var. Ursus americanus American black bear Class imported / merged by efoimporter Euarctos americanus GC_ID:1 NCBITaxon:9643 ncbi_taxonomy Euarctos americanus American black bear Oscheius dolichuroides Mustela putorius furo Class imported / merged by efoimporter GC_ID:1 Mustela furo Mustela putoris furo NCBITaxon:9669 black ferret domestic ferret ferret ncbi_taxonomy black ferret Mustela furo domestic ferret ferret Mustela putoris furo Felis catus Class imported / merged by efoimporter Felis domesticus Felis silvestris catus GC_ID:1 NCBITaxon:9685 cat cats domestic cat ncbi_taxonomy cats domestic cat Felis domesticus cat Felis silvestris catus Vitis riparia Class imported / merged by efoimporter GC_ID:1 NCBITaxon:96939 Vitis riparia Michx. frost grape ncbi_taxonomy riverbank grape Vitis riparia Michx. frost grape riverbank grape Zalophus californianus California sea lion California sealion Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9704 ncbi_taxonomy California sealion California sea lion Tursiops truncatus Atlantic bottle-nosed dolphin Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9739 bottle-nosed dolphin bottlenosed dolphin ncbi_taxonomy Atlantic bottle-nosed dolphin bottlenosed dolphin bottle-nosed dolphin Delphinapterus leucas Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9749 beluga beluga whale ncbi_taxonomy white whale beluga white whale beluga whale Equus caballus Class imported / merged by efoimporter Equus ferus caballus Equus przewalskii f. caballus Equus przewalskii forma caballus GC_ID:1 NCBITaxon:9796 domestic horse equine horse ncbi_taxonomy equine Equus przewalskii forma caballus horse Equus ferus caballus Equus przewalskii f. caballus domestic horse Sus scrofa Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9823 Sus scrofus ncbi_taxonomy pig pigs swine wild boar wild boar pigs pig swine Sus scrofus Salmonella enterica subsp. enterica serovar Dublin Class imported / merged by efoimporter GC_ID:11 NCBITaxon:98360 Salmonella dublin Salmonella enterica serovar Dublin ncbi_taxonomy Salmonella enterica serovar Dublin Salmonella dublin Cervus elaphus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9860 elk ncbi_taxonomy red deer red deer elk Cervus nippon Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9863 ncbi_taxonomy sika deer sika deer Festuca brevipila Class imported / merged by efoimporter GC_ID:1 NCBITaxon:98746 ncbi_taxonomy Festuca rubra subsp. fallax Class imported / merged by efoimporter GC_ID:1 NCBITaxon:98754 ncbi_taxonomy Festuca rubra subsp. littoralis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:98755 ncbi_taxonomy Buchnera aphidicola (Schizaphis graminum) Buchnera aphidicola (subsp. Schizaphis graminum) Class imported / merged by efoimporter GC_ID:11 NCBITaxon:98794 ncbi_taxonomy Buchnera aphidicola (subsp. Schizaphis graminum) Bos taurus Bos Tauurus Bos bovis Bos primigenius taurus Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9913 bovine cattle cow domestic cattle domestic cow ncbi_taxonomy domestic cow cow Bos primigenius taurus domestic cattle Bos Tauurus cattle Bos bovis bovine Bos indicus Bos primigenius indicus Bos taurus indicus Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9915 ncbi_taxonomy zebu zebu cattle zebu cattle zebu Bos taurus indicus Bos primigenius indicus Capra hircus Capra aegagrus hircus Carpa hircus Class imported / merged by efoimporter GC_ID:1 James Malone NCBITaxon:9925 South African angora goat domestic goat goat goats ncbi_taxonomy domestic goat goats goat South African angora goat Capra aegagrus hircus Carpa hircus Salmonella enterica subsp. enterica serovar Typhimurium str. LT2 Class imported / merged by efoimporter GC_ID:11 NCBITaxon:99287 Salmonella enterica subsp. enterica serovar Typhimurium LT2 Salmonella enterica subsp. enterica serovar Typhimurium strain LT2 Salmonella enterica subsp. enterica serovar Typhimurium strain LT2-LTL2 Salmonella typhimurium LT2 ncbi_taxonomy Salmonella enterica subsp. enterica serovar Typhimurium strain LT2 Salmonella typhimurium LT2 Salmonella enterica subsp. enterica serovar Typhimurium strain LT2-LTL2 Salmonella enterica subsp. enterica serovar Typhimurium LT2 Ovis aries Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9940 Ovis ammon aries Ovis orientalis aries Ovis ovis domestic sheep lambs ncbi_taxonomy sheep wild sheep Ovis ammon aries Ovis orientalis aries lambs sheep wild sheep domestic sheep Ovis ovis Streptococcus dysgalactiae subsp. dysgalactiae Class imported / merged by efoimporter GC_ID:11 NCBITaxon:99822 ncbi_taxonomy Oryctolagus cuniculus Class imported / merged by efoimporter European rabbit GC_ID:1 Japanese white rabbit Lepus cuniculus NCBITaxon:9986 domestic rabbit ncbi_taxonomy rabbit rabbits domestic rabbit European rabbit Lepus cuniculus rabbit Japanese white rabbit rabbits Tetraodon nigroviridis Class imported / merged by efoimporter GC_ID:1 NCBITaxon:99883 Tetraodon nigroviridis Marion de Proce, 1822 ncbi_taxonomy spotted green pufferfish spotted green pufferfish Tetraodon nigroviridis Marion de Proce, 1822 Marmota monax Class imported / merged by efoimporter GC_ID:1 Marmata monax NCBITaxon:9995 ncbi_taxonomy woodchuck woodchucks woodchucks woodchuck Marmata monax Spermophilus parryii Arctic ground squirrel Citellus parryii Class imported / merged by efoimporter GC_ID:1 NCBITaxon:9999 Spermophilus parryi ncbi_taxonomy Citellus parryii Spermophilus parryi Arctic ground squirrel material supplier role Jennifer Fostel biosource provider The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation. James Malone (modified from original) mass spectrometer A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum http://www.ebi.ac.uk/efo/EFO_0002700 A mass spectrometer is an instrument which is used to measure the mass to charge ratio of ions. All mass spectrometers consist of three basic parts: an ion source, a mass analyzer, and a detector system. The stages within the mass spectrometer are: 1. Production of ions from the sample 2. Separation of ions with different masses 3. Detection of the number of ions of each mass produced 4.Collection of data to generate the mass spectrum assay A hybridization on a microarray. A planned process with the objective to produce information about some evaluant An assay is a process with the objective to create as an output information about a material entity (bearing evaluant role). James Malone OBI_0000070 http://www.ebi.ac.uk/efo/EFO_0001455 A planned process with the objective to produce information about some evaluant measuring scientific observation quantitative confidence value A data item which is used to indicate the degree of uncertainty about a measurement. OBI gene list A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis. Chris Stoeckert A gene list is a report of the names or identifiers of genes that are the outcome of an analysis or have been put together for the purpose of an analysis. population A population is a group of material entities consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed. James Malone modified from original OBI definition NIFSTD:sao2254405550 Tomasz Adamusiak modified from original OBI definition http://www.ebi.ac.uk/efo/EFO_0000664 true organization An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. James Malone Jie Zheng MO_177 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0002010 organisation An organization is a continuant entity which can play roles, has members, and has a set of organization rules. Members of organizations are either organizations themselves or individual people. Members can bear specific organization member roles that are determined in the organization rules. The organization rules also determine how decisions are made on behalf of the organization by the organization members. protocol A protocol is an information entity which is a set of instructions that describe an how an experiment is done. James Malone Jie Zheng MO_214 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001442 plan specification true method a protocol is a plan specification which has sufficient level of detail and quantitative information to communicate it between domain experts, so that different domain experts will reliably be able to independently reproduce the process. method used in an experiment analyte role Analyte role is a role borne by a material entity and realized by implementation of an analyte measuring assay with objective to detect the magnitude/concentration/ amount of the analyte in the entity bearing evaluant role. James Malone http://www.ebi.ac.uk/efo/EFO_0001452 Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role PCR OBI Consortium PCR is the process in which a DNA polymerase is used to amplify a piece of DNA by in vitro enzymatic replication. As PCR progresses, the DNA thus generated is itself used as a template for replication. This sets in motion a chain reaction in which the DNA template is exponentially amplified. polymerase chain reaction reverse transcription PCR Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity. RT-PCR reverse transcription polymerase chain reaction OBI Consortium differential expression analysis data transformation A differential expression analysis data transformation is a data transformation that has objective differential expression analysis Dani Welter Helicos sequencing Helicos sequencing is a DNA sequencing which allows sequence identification of billions of DNA molecules immobilized to a surface by using DNA polymerase and fluorescently labeled nucleotides added one at a time. The sequencing process does not requires amplification step and is typically able to produce reads of 25 base pair length. Illumina sequencing Solexa sequencing Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing. material sample A material which is collected with the intention of being representative of a greater whole (i.e. a sample). blood drawn from patient to measure his systemic glucose level. A population of humans with HIV enrolled in a study taken to represent patients with HIV in general. sample population independent variable specification Dani Welter a directive information entity that is part of a study design. Independent variables are entities whose values are selected to determine its relationship to an observed phenomenon (the dependent variable). In such an experiment, an attempt is made to find evidence that the values of the independent variable determine the values of the dependent variable (that which is being measured). The independent variable can be changed as required, and its values do not represent a problem requiring explanation in an analysis, but are taken simply as given. The dependent variable on the other hand, usually cannot be directly controlled controlled variable specification Controlled variable specification is a part of a study design. They are the entities that could vary, but are kept constant to prevent their influence on the effect of the independent variable on the dependent. Dani Welter polyA RNA Chris Stoeckert A RNA extract that is the output of an extraction process in which RNA molecules with poly A tail at its 3’ end are purified. Jie Zheng poly adenylated RNA frozen specimen A specimen that has been frozen in order to store it. Dani Welte labeled specimen A specimen that has been modified in order to be able to detect it in future experiments. paraffin specimen Dani Welter a specimen that is output of a paraffin storage process in which specimen is embedded in paraffin fresh specimen Dani Welter a specimen that is output of a specimen creation process used for an investigation without storage agar stab specimen Dani Welter a specimen that is output of a process that cell culture inoculated into agar for long term storage spike-in quality control role A reference substance role that is borne by a material entity with a known amount which is mixed into the evaluant of assays for quality control or data normalization purposes. Chris Stoeckert, Jie Zheng, Bjoern Peters dye swap quality control role A reference substance role that is borne by a material entity used in a dye swap design experiment for quality control or data normalization purposes Jie Zheng Chris Stoeckert validation by reverse transcription PCR design A study design in which checks the accuracy or the quality of the result of an assay by comparing with reverse transcription PCR results. Chris Stoeckert Jie Zheng validation by real time PCR design A study design in which the accuracy or the quality of the result of an assay is checked by comparing with real time PCR results. Jie Zheng Chris Stoeckert p-value A quantitative confidence value that measures the minimum false discovery rate that is incurred when calling that test significant. Adapted from several sources, including http://.en/wikipedia.org/wiki/False_discovery_rate http://svitsrv25.epfl.ch/R-doc/library/qvalue.html specimen with known storage state A specimen for which it is known whether it has been subjected to storage of a specified type. Chris Stoeckert, Jie Zheng biosource type latitude Jie Zheng A measurement that is the measure of the latitude coordinate of a site. Chris Stoeckert longitude A measurement that is the measure of the longitude coordinate of a site. Jie Zheng Chris Stoeckert organism A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. E.g Drosophila melanogaster Drosophila melanogaster James Malone Jie Zheng MO_508 NIFSTD:birnlex_376 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#organism http://www.ebi.ac.uk/efo/EFO_0000634 true species A material entity that is an individual living system, such as animal, plant, bacteria or virus, that is capable of replicating or reproducing, growth and maintenance in the right environment. An organism may be unicellular or made up, like humans, of many billions of cells divided into specialized tissues and organs. specimen James Malone Philippe Rocca-Serra A material which is obtained and stored for potential use during an investigation. data transformation A data transformation is a process which produces output data from input data A data transformation is a process which produces output data from input data - e.g. the application of a clustering protocol to microarray data or the application of a statistical testing method on a primary data set to determine a p-value. James Malone OBI_0200000 A data transformation is a process which produces output data from input data data analysis data processing biexponential transformation James Malone http://www.ebi.ac.uk/efo/EFO_0002031 A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation. loess transformation James Malone http://www.ebi.ac.uk/efo/EFO_0002093 A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves. normalization data transformation James Malone http://www.ebi.ac.uk/efo/EFO_0002030 A normalization data transformation is a data transformation that has objective normalization. nucleic acid hybridization A process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity. a planned process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity. a planned process by which totally or partially complementary, single-stranded nucleic acids are combined into a single molecule called heteroduplex or homoduplex to an extent depending on the amount of complementarity. DNA sequencer A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. DNA_sequencer DNA_sequencer[accessedResource: MO_676][accessDate: 05-04-2011] James Malone MO_676 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#DNA_sequencer http://www.ebi.ac.uk/efo/EFO_0002015 A DNA sequencer is an instrument that determines the order of deoxynucleotides in deoxyribonucleic acid sequences. array scanner James Malone MO_824 array_scanner array_scanner[accessedResource: MO_824][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#array_scanner http://www.ebi.ac.uk/efo/EFO_0002014 An processed material which acquires images of fluorescence (induced with lasers) from labeled molecules on the surface of the microarray chip arrayer An arrayer is an instrument which deposits biological material onto a substrate in a defined pattern. James Malone MO_697 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#arrayer http://www.ebi.ac.uk/efo/EFO_0002016 a device which deposits biological material onto a substrate in a defined pattern. centrifuge A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density. James Malone MO_476 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#centrifuge http://www.ebi.ac.uk/efo/EFO_0002013 computer A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions. James Malone MO_510 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#computer http://www.ebi.ac.uk/efo/EFO_0002088 A computer is an instrument which manipulates (stores, retrieves, and processes) data according to a list of instructions. heating block A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay James Malone MO_663 heating_block heating_block[accessedResource: MO_663][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#heating_block http://www.ebi.ac.uk/efo/EFO_0002017 A heating block is an instrument or part of an instrument which raises or maintains the temperature of a sample to a defined constant temperature during certain parts of an assay homogenizer James Malone MO_714 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#homogenizer http://www.ebi.ac.uk/efo/EFO_0002018 A homogenizer is an instrument for the homogenization of various types of material, such as tissue, plant, food, soil, and many others. hybridization chamber A container which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide. James Malone MO_563 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#hybridization_chamber http://www.ebi.ac.uk/efo/EFO_0002019 hybridization_chamber hybridization_chamber[accessedResource: MO_563][accessDate: 05-04-2011] A device which is used to maintain constant contact of a liquid on an array. This can be either a glass vial or slide. hybridization station An instrument which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature. James Malone MO_497 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#hybridization_station http://www.ebi.ac.uk/efo/EFO_0002020 hybridization_station hybridization_station[accessedResource: MO_497][accessDate: 05-04-2011] A device which is used to maintain the temperature of one or more hybridization_chamber(s) at a defined, constant temperature. liquid handler A liquid_handler is an instrument used for automated liquid transfer and handling. James Malone MO_868 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#liquid_handler http://www.ebi.ac.uk/efo/EFO_0002021 liquid_handler liquid_handler[accessedResource: MO_868][accessDate: 05-04-2011] a device that is used for automated liquid transfer and handling. liquid_handling_instrument oligonucleotide synthesizer An instrument used to chemically synthesize oligonucleotides. James Malone MO_930 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#oligo_synthesizer http://www.ebi.ac.uk/efo/EFO_0002022 oligo_synthesizer oligo_synthesizer[accessedResource: MO_930][accessDate: 05-04-2011] An instrument used to chemically synthesize oligonucleotides. sonicator A sonicator is an instrument that converts a variable electrical current to mechanical vibration of a metalic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions. [accessedResource: http://purl.obolibrary.org/obo/OBI_0400114][accessDate: 2009-08-12] James Malone MO_477 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#sonicator http://www.ebi.ac.uk/efo/EFO_0002023 An instrument that converts a variable electrical current to mechanical vibration of a metallic probe. The instrument is used for the lysis of cells, the mixing of compounds or solutions, or to create emulsions. spectrophotometer James Malone MO_716 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#spectrophotometer http://www.ebi.ac.uk/efo/EFO_0002024 A spectrophotometer is an instrument that measures the intensity of light as a function of the color, or more specifically, the wavelength of light, transmitted by a substance. thermal cycler James Malone MO_854 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#thermal_cycler http://www.ebi.ac.uk/efo/EFO_0002025 thermal_cycler thermal_cycler[accessedResource: MO_854][accessDate: 05-04-2011] An instrument that is capable of repeatedly altering and maintaining specific temperatures for defined periods of time. DNA_amplifier PCR_machine Polymerase_Chain_Reaction_ machine thermocycler vacuum dryer An instrument which removes liquid by the application of negative pressure, i.e. vacuum. James Malone MO_696 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#vacuum_dryer http://www.ebi.ac.uk/efo/EFO_0002026 vacuum_dryer vacuum_dryer[accessedResource: MO_696][accessDate: 05-04-2011] An instrument which removes liquid by the application of negative pressure, i.e. vacuum. vortexer James Malone Jie Zheng MO_983 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#vortexer http://www.ebi.ac.uk/efo/EFO_0002027 A vortexer is an instrument that mixes small vials of liquid by creating a rotation of the liquid around its own center. It consists of an electric motor with the drive shaft oriented vertically and attached to a cupped rubber piece mounted slightly off-center. As the motor runs the rubber piece oscillates rapidly in a circular motion. When a test tube or other appropriate container is pressed into the rubber cup (or touched to its edge) the motion is transmitted to the liquid inside and a vortex is created. vortex_mixer water bath James Malone MO_541 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#waterbath http://www.ebi.ac.uk/efo/EFO_0002089 waterbath waterbath[accessedResource: MO_541][accessDate: 05-04-2011] A water bath is a temperature control bath in which a water acts as contact medium enabling temperature transfer from the heating element or cooling element to the sample. The temperature can be controlled in the 0 to 100 degree centigrade range (under normal pressure). tumor grading Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus. Helen Parkinson and Adam Witney group assignment James Malone, modified from original OBI definition (Philippe Rocca Serra) cohort assignment Group assignment is a process in which an organism is assigned to a particular group or cohort, such as assignment to a treated and control group. study assignment infect The detrimental process in which an infectious agent colonizes or replicates in a host environment IEDB pathological process Abnormal, harmful processes caused by or associated with a disease root tip http://purl.obolibrary.org/obo/PO_0000025 The portion of the root including the meristem and the root cap. root cortex A portion of ground tissue that is part of a cortext and part of a root http://purl.obolibrary.org/obo/PO_0000258 primary root apical meristem A root apical meristem that is part of a primary root. plant_anatomy root meristem A meristem which is part of a root system http://purl.obolibrary.org/obo/PO_0006085 6 ripening BBCH principal growth stage 8 silique ripening Arabidopsis Growth principal growth stage 8 Maturation of the fruit. radicle emergence A root development stage during which a radicle emerges from the seed coat. BBCH growth stage 05 4 flowering BBCH principal growth stage 6 The stage at which any flower(s) on the plant are open. sporophyte senescent stage sporophyte senescence stage A sporophyte development stage during which a sporophyte participates in multicellular organism senescence. Arabidopsis Growth principal growth stage 9 seed imbibition stage BBCH growth stage 01 A germination stage during which there is absorption of water by the seed. FL.04 end of flowering Arabidopsis Growth Stage 6.90 flowering complete The stage at which flowering is complete. FL.00 first flower(s) open The stage at which the first flower(s) open. Arabidopsis Growth Stage 5.10 Stage R1 Open flower at any node on the main stem coleoptile emergence stage A sporophyte vegetative stage during which the coleoptile emerges from the seed coat. BBCH growth stage 09 3 inflorescence detectable stage BBCH principal growth stage 4 A reproductive growth stage during which an inflorescence is detectable. This includes the stage when an inflorescence starts to develop (and is detectable only by assay or with a microscope), to the stage where it is visible to the naked eye. This includes the booting stage in the grasses (Poaceae). There is no one-to-one correspondence between some of the phases of inflorescence formation in members of Poaceae (e.g., booting) with that of other families. BBCH principal growth stage 5 0 seed germination stage The resumption of growth by the embryo in a seed. Principal growth stage 0 LP.07 seven leaves visible BBCH growth stage 17 The stage at which leaves at seven nodes, other than the cotyledonary node, are visible above ground. LP.12 twelve leaves visible The stage at which leaves at twelve nodes, other than the cotyledonary node, are visible above ground. LP.05 five leaves visible BBCH growth stage 15 The stage at which leaves at five nodes, other than the cotyledonary node, are visible above ground. LP.17 seventeen leaves visible The stage at which leaves at seventeen nodes, other than the cotyledonary node, are visible above ground. mid rosette growth Rosette has reached approximately 50% of its final diameter. LP.18 eighteen leaves visible The stage at which leaves at eighteen nodes, other than the cotyledonary node, are visible above ground. late rosette growth Rosette has reached approximately 70% of its final diameter. rosette growth complete Stage at which rosette no longer increases in diameter, its leaf growth and expansion having ceased. early rosette growth Rosette has reached approximately 20% of its final diameter. LP.20 twenty or more leaves whorls visible The stage at which leaves at twenty or more nodes, other than the cotyledonary node, are visible above ground. LP.13 thirteen leaves visible The stage at which leaves at thirteen nodes, other than the cotyledonary node, are visible above ground. LP.14 fourteen leaves visible The stage at which leaves at fourteen nodes, other than the cotyledonary node, are visible above ground. LP.01 one leaf visible BBCH growth stage 11 The stage at which leaves at one node, other than the cotyledonary node, are visible above ground. LP.08 eight leaves visible BBCH growth stage 18 The stage at which leaves at eight nodes, other than the cotyledonary node, are visible above ground. LP.02 two leaves visible BBCH growth stage 12 The stage at which leaves at two nodes, other than the cotyledonary node, are visible above ground. LP.09 nine leaves visible BBCH growth stage 19 The stage at which leaves at nine nodes, other than the cotyledonary node, are visible above ground. LP.10 ten leaves visible The stage at which leaves at ten nodes, other than the cotyledonary node, are visible above ground. LP.15 fifteen leaves visible The stage at which leaves at fifteen nodes, other than the cotyledonary node, are visible above ground. LP.03 three leaves visible BBCH growth stage 13 The stage at which leaves at three nodes, other than the cotyledonary node, are visible above ground. 1 main shoot growth stage The stage at which vegetative structures are being produced by SAM. rosette growth Stages of growth based on expansion of the rosette in Arabidopsis. LP.04 four leaves visible BBCH growth stage 14 The stage at which leaves at four nodes, other than the cotyledonary node, are visible above ground. LP.11 eleven leaves visible The stage at which leaves at eleven nodes, other than the cotyledonary node, are visible above ground. LP.16 sixteen leaves visible The stage at which leaves at sixteen nodes, other than the cotyledonary node, are visible above ground. LP.19 nineteen leaves visible The stage at which leaves at nineteen nodes, other than the cotyledonary node, are visible above ground. LP.06 six leaves visible The stage at which leaves at six nodes, other than the cotyledonary node, are visible above ground. BBCH growth stage 16 leaf production The stage at which the leaves produced by SAM are visible above the ground in a seedling or mature plant. vascular leaf Has vascular tissue. From APweb Glossary: In angiosperms, commonly thought of as one of the three basic parts of the seed plant body, a structure usually of determinate growth, without secondary thickening, and of superficial origin, often flattened and photosynthetic in part, and in the axil of which is found a bud. Occurs in the sporophytic phase of a plant life cycle. pedicel ISBN:0716710072 plant_anatomy An inflorescence branch (PO:0009081) that supports an individual flower in an inflorescence (PO:0009049). The bracteoles are borne on the pedicel, which terminates in a flower. A pedicel is the ultimate branch in an inflorescence petiole plant_anatomy APweb:Glossary http://purl.obolibrary.org/obo/PO_0020124 A stalk of a leaf. root stele http://purl.obolibrary.org/obo/PO_0020124 A stele that is part of a root leaf tip leaf lamina tip plant_anatomy A phyllome tip (PO:0025141) that is part of a leaf apex (PO:0020137). This term is to be used for only the apical most portion of a leaf. For a larger area, use the term leaf apex. Use this term when describing the shape of a leaf tip. If you are annotating to this term, please add an additional annotation to vascular leaf (PO:0009025) or non-vascular leaf (PO:0025075), depending on the species. All annotations for angiosperms, gymnosperms, and pteridophytes should go to vascular leaf and all annotations for bryophytes should go to non-vascular leaf. coleorhiza emergence stage A root development stage during which a coleorhiza emerges from the seed coat. sporophyte development stage A whole plant development stage that has as primary participant a whole plant during the interval between fertilization (or apogamy) and death. sporophytic phase Arabidopsis developmental stage snRNA small nuclear RNA A small nuclear RNA molecule involved in pre-mRNA splicing and processing. ncRNA An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product. non coding RNA gene A region (or regions) that includes all of the sequence elements necessary to encode a functional transcript. A gene may include regulatory regions, transcribed regions and/or other functional sequence regions. SO editors uterine cervix BTO:0001421 BTO:0002249 CALOHA:TS-0134 EFO:0000979 EMAPA:29927 EV:0100114 FMA:17740 GAID:376 Lower, narrow portion of the uterus where it joins with the top end of the vagina. MA:0000392 MAT:0000292 MESH:A05.360.319.679.256 OpenCyc:Mx4rvVipEJwpEbGdrcN5Y29ycA SCTID:245494008 The evolution of mammals is associated with radical changes in their reproductive biology, particularly the structure and function of the female reproductive organs. These changes include the evolution of the uterus, cervix, vagina, placenta and specialized cell types associated with each of those structures.[well established][VHOG] The narrow caudal end of the uterus that opens into the vagina. [TFD][VHOG] UBERON:0000002 UMLS:C0007874 VHOG:0001359 Wikipedia:Cervix canalis cervicis uteri caudal segment of uterus cervical cervical canal cervical canal of uterus cervix cervix uteri galen:CervixUteri ncithesaurus:Cervix neck of uterus uberon uterine cervix FMA:17740 FMA:TA canalis cervicis uteri EMAPA:29927 cervix uteri Lower, narrow portion of the uterus where it joins with the top end of the vagina. UBERON:cjm Wikipedia:Cervix VHOG:0001359 EFO:0000979 cervix FMA:TA canalis cervicis uteri 2012-09-17 DOI:10.1098/rspb.2004.2848 Lynch VJ, Roth JJ, Takahashi K, Dunn CW, Nonaka DF, Stopper GF, Wagner GP, Adaptive evolution of HoxA-11 and HoxA-13 at the origin of the uterus in mammals. Proceedings of the Royal Society of London, Series B (2004) The evolution of mammals is associated with radical changes in their reproductive biology, particularly the structure and function of the female reproductive organs. These changes include the evolution of the uterus, cervix, vagina, placenta and specialized cell types associated with each of those structures.[well established][VHOG] VHOG VHOG:0001359 http://bgee.unil.ch/ FMA:17740 cervical canal of uterus 2012-09-17 The narrow caudal end of the uterus that opens into the vagina. [TFD][VHOG] VHOG VHOG:0001359 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/uterine+cervix FMA:17740 uterine cervix FMA:17740 cervical canal FMA:17740 neck of uterus olfactory apparatus BTO:0000840 CALOHA:TS-2037 EFO:0000828 EHDAA2:0001274 EHDAA:1502 EMAPA:16542 EV:0100037 EV:0100370 FMA:46472 GAID:77 MA:0000281 MAT:0000139 MESH:A01.456.505.733 MIAA:0000139 OpenCyc:Mx4rvViCbJwpEbGdrcN5Y29ycA SCTID:181195007 TAO:0000047 TODO - distinguish generic olfactory apparatus from nose; we have olfactory organ for the generic organ - add new class 'olfactory structure'? UBERON:0000004 UMLS:C0028429 Wikipedia:Nose ZFA:0000047 a protuberance in vertebrates that houses the nostrils, or nares, which admit and expel air for respiration in conjunction with the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes through the pharynx, shared with the digestive system, and then into the rest of the respiratory system. In humans, the nose is located centrally on the face; on most other mammals, it is on the upper tip of the snout[WP]. GO: The nose is the specialized structure of the face that serves as the organ of the sense of smell and as part of the respiratory system. Includes the nasi externus (external nose) and cavitas nasi (nasal cavity)[Wikipedia:Nose]. galen:Nose http://upload.wikimedia.org/wikipedia/commons/d/d0/Canine-nose.jpg nasal sac nasus ncithesaurus:Nose nose peripheral olfactory organ proboscis uberon Wikipedia:Nose nasus ZFA:0000047 nasal sac Wikipedia:Nose a protuberance in vertebrates that houses the nostrils, or nares, which admit and expel air for respiration in conjunction with the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes through the pharynx, shared with the digestive system, and then into the rest of the respiratory system. In humans, the nose is located centrally on the face; on most other mammals, it is on the upper tip of the snout[WP]. GO: The nose is the specialized structure of the face that serves as the organ of the sense of smell and as part of the respiratory system. Includes the nasi externus (external nose) and cavitas nasi (nasal cavity)[Wikipedia:Nose]. islet of Langerhans A primitive exocrine pancreas can be found in holocephalan cartilaginous fish; a pancreatic duct directly ending in the gut lumen is connected to a glandular structure made of exocrine cells and associated with cell islets, which comprises three different hormone-producing cell types: insulin, somatostatin and glucagon (Yui and Fujita, 1986)[PMID:16417468] AAO:0010406 Anatomical structure which consists of glands developed from pancreatic ducts in the larvae and secrete insulin.[AAO] BTO:0000991 CALOHA:TS-0741 EFO:0000856 EMAPA:19246 EMAPA:19247 EMAPA:19248 EV:0100130 FMA:16016 GAID:324 MA:0000127 MAT:0000076 MESH:A03.734.414 MIAA:0000076 Mammals, birds, reptiles and amphibians have a pancreas with similar histology and mode of development, while in some fish, the islet cells are segregated as Brockmann bodies.[well established][VHOG] Regions of the pancreas that contain its endocrine (i.e., hormone-producing) cells. UBERON:0000006 UMLS:C0022131 VHOG:0000646 Wikipedia:Islets_of_Langerhans XAO:0000159 http://upload.wikimedia.org/wikipedia/commons/9/99/Gray1105.png island of Langerhans island of pancreas islets of langerhans ncithesaurus:Islet_of_Langerhans pancreatic insula pancreatic islet uberon BTO:0000991 island of Langerhans VHOG:0000646 2012-09-17 Mammals, birds, reptiles and amphibians have a pancreas with similar histology and mode of development, while in some fish, the islet cells are segregated as Brockmann bodies.[well established][VHOG] PMID:7600975 Slack JMW, Developmental biology of the pancreas. Development (1995) VHOG VHOG:0000646 http://bgee.unil.ch/ BTO:0000991 island of pancreas Regions of the pancreas that contain its endocrine (i.e., hormone-producing) cells. Wikipedia:Islets_of_Langerhans 2012-06-20 AAO AAO:0010406 AAO:BJB Anatomical structure which consists of glands developed from pancreatic ducts in the larvae and secrete insulin.[AAO] pituitary gland AAO:0010536 An endocrine gland derived from infundibulum of the floor of the diencephalon and an ectodermal dorsal protrusion from the buccal cavity which controls the secretion of many hormones influencing the function of various organs of the body.[AAO] An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.[TAO] BM:Die-Hy-HY BTO:0001073 CALOHA:TS-0798 EFO:0000857 EHDAA2:0001471 EHDAA:2183 EHDAA:4477 EMAPA:16647 EMAPA:16898 EV:0100132 FMA:13889 GAID:457 It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] MA:0000176 MAT:0000077 MESH:A06.407.747 MIAA:0000077 NIF_GrossAnatomy:birnlex_1353 OpenCyc:Mx4rv6NQYJwpEbGdrcN5Y29ycA SCTID:181125003 TAO:0000118 Taxon notes: The lamprey possesses a distinct pituitary organ and hormones, the ascidian does not show distinct evidence of them [Sower S, Freamat M, Kavanaugh S. The origins of the vertebrate hypothalamic–pituitary–gonadal (HPG) and hypothalamic–pituitary–thyroid (HPT) endocrine systems: new insights from lampreys. Gen Comp Endocrinol 2009;161:20-9] The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. UBERON:0000007 UMLS:C0032005 VHOG:0000143 Wikipedia:Pituitary_gland XAO:0000017 ZFA:0000118 glandula pituitaria http://upload.wikimedia.org/wikipedia/commons/9/97/Gray1180.png http://upload.wikimedia.org/wikipedia/commons/thumb/9/97/Gray1180.png/200px-Gray1180.png hypophysis hypophysis cerebri ncithesaurus:Pituitary_Gland pituitary pituitary body uberon MA:0000176 hypophysis cerebri The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands [GO]. An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin [ZFIN]. Wikipedia:Pituitary_gland ZFIN:curator Wikipedia:Pituitary_gland glandula pituitaria 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.510 It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] VHOG VHOG:0000143 http://bgee.unil.ch/ BTO:0001073 glandula pituitaria ZFA BTO:0001073 pituitary body BTO:0001073 pituitary 2012-06-20 AAO AAO:0010536 AAO:BJB An endocrine gland derived from infundibulum of the floor of the diencephalon and an ectodermal dorsal protrusion from the buccal cavity which controls the secretion of many hormones influencing the function of various organs of the body.[AAO] 2012-08-14 An endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.[TAO] TAO TAO:0000118 ZFIN:curator VHOG:0000143 Wikipedia ZFA:0000118 hypophysis peripheral nervous system (...) specific vertebrate traits within the chordate phylum such as skeletal tissues, PNS, and spectacular head and brain development, are linked to the NC (neural crest) and its derivatives.[well established][VHOG] AAO:0000429 BILA:0000081 BTO:0001028 CALOHA:TS-0808 EFO:0000891 EHDAA2:0001445 EHDAA:2893 EMAPA:16665 EMAPA:18370 EV:0100335 FBbt:00005098 FMA:9903 GAID:715 MA:0000218 MAT:0000338 MESH:A08.800 MIAA:0000338 NIF_GrossAnatomy:birnlex_1111 Nervous structures including ganglia outside of the central nervous system. Divided into somatic nervous system and autonomic nervous system Nervous structures including ganglia outside of the central nervous system. Kimmel et al, 1995.[TAO] PNS Part of nervous system in which nerves extend throughout the body outside of the brain and spinal cord.[AAO] SCTID:362292005 TAO:0000142 UBERON:0000010 UMLS:C0206417 VHOG:0000399 Wikipedia:Peripheral_nervous_system XAO:0000178 ZFA:0000142 http://upload.wikimedia.org/wikipedia/commons/b/ba/Nervous_system_diagram.png http://upload.wikimedia.org/wikipedia/commons/thumb/b/ba/Nervous_system_diagram.png/200px-Nervous_system_diagram.png ncithesaurus:Peripheral_Nervous_System pars peripherica; systema nervosum periphericum uberon 2012-06-20 AAO AAO:0000429 AAO:BJB Part of nervous system in which nerves extend throughout the body outside of the brain and spinal cord.[AAO] VHOG:0000399 (...) specific vertebrate traits within the chordate phylum such as skeletal tissues, PNS, and spectacular head and brain development, are linked to the NC (neural crest) and its derivatives.[well established][VHOG] 2012-09-17 DOI:10.1007/978-0-387-46954-6_6 Dupin E, Creuzet S, Le Douarin NM, The contribution of the neural crest to the vertebrate body. Advances in experimental medicine and biology (2006) VHOG VHOG:0000399 http://bgee.unil.ch/ FB:gg Nervous structures including ganglia outside of the central nervous system. Divided into somatic nervous system and autonomic nervous system OMD:peripheral+nervous+system Wikipedia:Peripheral_nervous_system ZFIN:curator 2012-08-14 Nervous structures including ganglia outside of the central nervous system. Kimmel et al, 1995.[TAO] TAO TAO:0000142 ZFIN:curator Wikipedia:Peripheral_nervous_system pars peripherica; systema nervosum periphericum parasympathetic nervous system AAO:0010488 BTO:0001833 CALOHA:TS-2094 Development notes: has developmental contribution from NC in verteberates (UBERONREF:0000002) EFO:0000894 EHDA:10096 EHDAA2:0001402 EHDAA:4655 EMAPA:17270 FMA:9907 GAID:708 In mammals, the autonomic nervous system is divided into two contrasting, antagonistic systems of control over visceral activity: the sympathetic system and the parasympathetic system (reference 1); In general, the teleosts may be considered phylogenetically the first class of vertebrates in which the heart is regulated by both sympathetic and parasympathetic neural pathways (reference 2).[well established][VHOG] MA:0000223 MAT:0000101 MESH:A08.800.050.600 MIAA:0000101 NIF_GrossAnatomy:birnlex_2517 PNS - parasympathetic Part of the autonomic nervous system which has opposing physiological effects of the sympathetic nervous system. Examples include decreasing the heart rate or dilating the blood vessels.[AAO] SCTID:362496006 TAO:0001575 The parasympathetic nervous system (PSNS) is a division of the autonomic nervous system (ANS), along with the sympathetic nervous system (SNS) and enteric nervous system (ENS). The ANS is a subdivision of the peripheral nervous system (PNS). ANS sends fibers to three tissues: cardiac muscle, smooth muscle, or glandular tissue. This stimulation, sympathetic or parasympathetic, is to control smooth muscle contraction, regulate cardiac muscle, or stimulate or inhibit glandular secretion [Wikipedia]. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia [GO]. UBERON:0000011 UMLS:C0030510 VHOG:0000755 Wikipedia:Parasympathetic_nervous_system ZFA:0001575 http://upload.wikimedia.org/wikipedia/commons/f/f7/Gray839.png http://upload.wikimedia.org/wikipedia/commons/thumb/f/f7/Gray839.png/200px-Gray839.png ncithesaurus:Parasympathetic_Nervous_System parasympathetic part of autonomic division of nervous system pars parasympathica divisionis autonomici systematis nervosi uberon 2012-06-20 AAO AAO:0010488 AAO:BJB Part of the autonomic nervous system which has opposing physiological effects of the sympathetic nervous system. Examples include decreasing the heart rate or dilating the blood vessels.[AAO] Wikipedia:Parasympathetic_nervous_system pars parasympathica divisionis autonomici systematis nervosi The parasympathetic nervous system (PSNS) is a division of the autonomic nervous system (ANS), along with the sympathetic nervous system (SNS) and enteric nervous system (ENS). The ANS is a subdivision of the peripheral nervous system (PNS). ANS sends fibers to three tissues: cardiac muscle, smooth muscle, or glandular tissue. This stimulation, sympathetic or parasympathetic, is to control smooth muscle contraction, regulate cardiac muscle, or stimulate or inhibit glandular secretion [Wikipedia]. The parasympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example: salivary glands, thoracic and abdominal viscera, bladder and genitalia [GO]. Wikipedia:Parasympathetic_nervous_system FMA:9907 FMA:TA pars parasympathica divisionis autonomici systematis nervosi 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.634, DOI:10.1016/S0306-4530(98)00057-2 Porges SW, Love: an emergent property of the mammalian autonomic nervous system. Psychoneuroendocrinology (1998) In mammals, the autonomic nervous system is divided into two contrasting, antagonistic systems of control over visceral activity: the sympathetic system and the parasympathetic system (reference 1); In general, the teleosts may be considered phylogenetically the first class of vertebrates in which the heart is regulated by both sympathetic and parasympathetic neural pathways (reference 2).[well established][VHOG] VHOG VHOG:0000755 http://bgee.unil.ch/ VHOG:0000755 sympathetic nervous system AAO:0010487 BTO:0001832 CALOHA:TS-2050 Development notes: has developmental contribution from NC in verteberates (UBERONREF:0000002) EFO:0000893 EHDAA2:0001971 EHDAA:3769 EMAPA:16985 FMA:9906 GAID:710 MA:0000225 MESH:A08.800.050.800 MIAA:0000100 NIF_GrossAnatomy:birnlex_2516 Part of the autonomic nervous system which has opposing physiological effects of the parasympathetic nervous system. Examples include increasing the heart rate or constricting the blood vessels.[AAO] SCTID:362484004 TAO:0001576 The Sympathetic Nervous System (SNS) is a branch of the autonomic nervous system along with the enteric nervous system and parasympathetic nervous system. It is always active at a basal level (called sympathetic tone) and becomes more active during times of stress. Its actions during the stress response comprise the fight-or-flight response [Wikipedia]. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]. The autonomic nervous system is composed of three divisions: the sympathetic division, the parasympathetic division, and the enteric division. (...) In ray-finned teleost fishes, a sympathetic chain is present, and dual innervation of additional organs can be observed. A similar pattern can be found in amphibians (...). The evolution of the autonomic nervous system has been quite conservative, especially in the tetrapod lineage.[well established][VHOG] The part of the autonomic nervous system which chiefly contains adrenergic fibres and tends to control and reduce secretions, decrease the contractility and hence the tone of smooth muscles and provoke the contraction of blood vessels. Essentially, it consists of preganglionic fibres from the thoracic and upper lumbar parts of the spinal cord. These fibres, by means of delicate rami communicantes, cross over to ganglia sited in a pair of ganglionated cords on each side of the vertebral column or to more peripheral ganglia. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:0000013 UMLS:C0039044 VHOG:0000384 Wikipedia:Sympathetic_nervous_system ZFA:0001576 http://upload.wikimedia.org/wikipedia/commons/7/77/Gray838.png http://upload.wikimedia.org/wikipedia/commons/thumb/7/77/Gray838.png/200px-Gray838.png ncithesaurus:Sympathetic_Nervous_System pars sympathica divisionis autonomici systematis nervosi sympathetic nervous system sympathetic part of autonomic division of nervous system uberon 2012-06-20 AAO AAO:0010487 AAO:BJB Part of the autonomic nervous system which has opposing physiological effects of the parasympathetic nervous system. Examples include increasing the heart rate or constricting the blood vessels.[AAO] 2012-09-17 The part of the autonomic nervous system which chiefly contains adrenergic fibres and tends to control and reduce secretions, decrease the contractility and hence the tone of smooth muscles and provoke the contraction of blood vessels. Essentially, it consists of preganglionic fibres from the thoracic and upper lumbar parts of the spinal cord. These fibres, by means of delicate rami communicantes, cross over to ganglia sited in a pair of ganglionated cords on each side of the vertebral column or to more peripheral ganglia. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000384 http://bgee.unil.ch/ 2012-09-17 ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptation (2005) p.461-463 The autonomic nervous system is composed of three divisions: the sympathetic division, the parasympathetic division, and the enteric division. (...) In ray-finned teleost fishes, a sympathetic chain is present, and dual innervation of additional organs can be observed. A similar pattern can be found in amphibians (...). The evolution of the autonomic nervous system has been quite conservative, especially in the tetrapod lineage.[well established][VHOG] VHOG VHOG:0000384 http://bgee.unil.ch/ VHOG:0000384 Wikipedia:Sympathetic_nervous_system pars sympathica divisionis autonomici systematis nervosi The Sympathetic Nervous System (SNS) is a branch of the autonomic nervous system along with the enteric nervous system and parasympathetic nervous system. It is always active at a basal level (called sympathetic tone) and becomes more active during times of stress. Its actions during the stress response comprise the fight-or-flight response [Wikipedia]. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter [GO]. Wikipedia:Sympathetic_nervous_system FMA:9906 FMA:TA pars sympathica divisionis autonomici systematis nervosi endocrine pancreas BTO:0000650 CALOHA:TS-1302 EFO:0002542 EV:0100129 Editor notes - endocrine and exocrine pancrease are not co-associated in hagfishes or lampreys [PMID:20959416] - create a separate class for these? FMA:16018 In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG] MA:0001582 SCTID:361339003 TAO:0001260 The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO]. The part of the pancreas that acts as an endocrine gland, consisting of the islets of Langerhans, which secrete insulin and other hormones. [TFD][VHOG] The zebrafish endocrine pancreas is composed of small groups of islet cells that are distributed throughout the exocrine pancreas. The islet cells produce insulin, glucagon and somatostatin.[TAO] UBERON:0000016 VHOG:0000049 Wikipedia:Islets_of_Langerhans ZFA:0001260 endocrine pancreas endocrine part of pancreas islets of Langerhans part of pancreas ncithesaurus:Endocrine_Pancreas pars endocrina pancreatis uberon 2012-09-17 The part of the pancreas that acts as an endocrine gland, consisting of the islets of Langerhans, which secrete insulin and other hormones. [TFD][VHOG] VHOG VHOG:0000049 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/Pancreas BTO:0000650 endocrine part of pancreas VHOG:0000049 GOC:GO The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin[GO]. Wikipedia:Islets_of_Langerhans 2012-08-14 TAO TAO:0001260 The zebrafish endocrine pancreas is composed of small groups of islet cells that are distributed throughout the exocrine pancreas. The islet cells produce insulin, glucagon and somatostatin.[TAO] ZFIN:curator 2012-09-17 DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. C.R. Biologies (2007) In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG] VHOG VHOG:0000049 http://bgee.unil.ch/ feather BTO:0000447 EFO:0000955 GAID:1214 MAT:0000156 MESH:A13.370 OpenCyc:Mx4rvVjW-5wpEbGdrcN5Y29ycA SCTID:410027006 Taxon notes: They are among the characteristics that distinguish the extant Aves from other living groups. Feathers have also been noticed in those Theropoda which have been termed feathered dinosaurs. Although feathers cover most parts of the body of birds, they arise only from certain well-defined tracts on the skin. They aid in flight, thermal insulation, waterproofing and coloration that helps in communication and protection. Structure notes: The β-keratins in feathers, beaks and claws — and the claws, scales and shells of reptiles — are composed of protein strands hydrogen-bonded into β-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the α-keratins of mammalian hair, horns and hoof. UBERON:0000022 Wikipedia:Feather http://upload.wikimedia.org/wikipedia/commons/4/41/Parts_of_feather_modified.jpg http://xkcd.com/1104/ one of the epidermal growths that form the distinctive outer covering, or plumage, on birds. Feathers are formed in tiny follicles in the epidermis, or outer skin layer, that produce keratin proteins. The β-keratins in feathers, beaks and claws — and the claws, scales and shells of reptiles — are composed of protein strands hydrogen-bonded into β-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the α-keratins of mammalian hair, horns and hoof. The exact signals that induce the growth of feathers on the skin are not known but it has been found that the transcription factor cDermo-1 induces the growth of feathers on skin and scales on the leg. uberon Wikipedia:Feather one of the epidermal growths that form the distinctive outer covering, or plumage, on birds. Feathers are formed in tiny follicles in the epidermis, or outer skin layer, that produce keratin proteins. The β-keratins in feathers, beaks and claws — and the claws, scales and shells of reptiles — are composed of protein strands hydrogen-bonded into β-pleated sheets, which are then further twisted and crosslinked by disulfide bridges into structures even tougher than the α-keratins of mammalian hair, horns and hoof. The exact signals that induce the growth of feathers on the skin are not known but it has been found that the transcription factor cDermo-1 induces the growth of feathers on skin and scales on the leg. wing Appendage that is used to produce lift for flight through the air. BTO:0001463 EFO:0000885 GAID:1217 MAT:0000202 MESH:A13.395.823 MIAA:0000202 This class is not monophyletic. See also: GO:0007629 UBERON:0000023 Wikipedia:Wing alar uberon Appendage that is used to produce lift for flight through the air. Wikipedia:Wing appendage AEO:0000193 An appendage is an external body part, or natural prolongation, that protrudes from an organism's body, such as a vertebrate's limbs[BILA][BILA:0000018]. BILA:0000018 BTO:0001492 CARO:0010003 EFO:0000799 EHDAA2:0003193 EV:0100155 FBbt:00007000 HAO:0000144 MAT:0000023 MESH:A01.378 MIAA:0000023 Major subdivision of an organism that protrudes from the body[DOS, CARO]. Note this is currently a subtype of organism subdivision - which would exclude feathers OpenCyc:Mx4rvViC-JwpEbGdrcN5Y29ycA Organ or organ part that is attached to the body of an organism. For example a limb[GO, modified][GO:0048736]. UBERON:0000026 UMLS:C0598782 VSAO:0000075 Wikipedia:Appendage XAO:0000218 appendicular extremitaet extremity limbs/digits/tail ncithesaurus:Appendage uberon GO:0048736 Organ or organ part that is attached to the body of an organism. For example a limb[GO, modified][GO:0048736]. MP:0000001 limbs/digits/tail CARO:DOS Major subdivision of an organism that protrudes from the body[DOS, CARO]. BTO:0001492 extremitaet An appendage is an external body part, or natural prolongation, that protrudes from an organism's body, such as a vertebrate's limbs[BILA][BILA:0000018]. BILA:0000018 lymph node BTO:0000784 CALOHA:TS-0579 EFO:0000872 EV:0100050 FMA:5034 GAID:947 Lymph nodes that are associated with the lymphatic system have evolved in mammals.[well established][VHOG] MA:0000139 MAT:0000442 MESH:A15.382.520.604.412 OpenCyc:Mx4rwLPqLpwpEbGdrcN5Y29ycA Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP]. SCTID:181756000 TAO:0005318 UBERON:0000029 UMLS:C0024204 VHOG:0001273 Wikipedia:Lymph_node ZFA:0005318 galen:Lymphnode http://upload.wikimedia.org/wikipedia/commons/b/b8/Illu_lymph_node_structure.png lymph gland ncithesaurus:Lymph_Node nodus lymphaticus uberon GAID:947 Oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. Lymph nodes are garrisons of B, T, and other immune cells. Lymph nodes are found all through the body, and act as filters or traps for foreign particles. They contain white blood cells that use oxygen to process. Thus they are important in the proper functioning of the immune system. The lymph node is surrounded by a fibrous capsule, and inside the lymph node the fibrous capsule extends to form trabeculae. The substance of the lymph node is divided into the outer cortex and the inner medulla surrounded by the former all around except for at the hilum, where the medulla comes in direct contact with the surface. Thin reticular fibers, elastin and reticular fibers form a supporting meshwork called reticular network (RN) inside the node, within which the white blood cells (WBCs), most prominently, lymphocytes are tightly packed as follicles in the cortex. Elsewhere, there are only occasional WBCs. The RN provides not just the structural support, but also provide surface for adhesion of the dendritic cells, macrophages and lymphocytes. It allows for exchange of material with blood through the high endothelial venules and provides the growth and regulatory factors necessary for activation and maturation of immune cells[WP]. Wikipedia:Lymph_node ZFA doie:10.1177/0192623311409597 VHOG:0001273 VHOG:0001273 lymph gland Wikipedia:Lymph_node nodus lymphaticus 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.630 Lymph nodes that are associated with the lymphatic system have evolved in mammals.[well established][VHOG] VHOG VHOG:0001273 http://bgee.unil.ch/ Wikipedia head AAO:0010335 AEO:0000106 BILA:0000115 BTO:0000282 CALOHA:TS-0436 EFO:0000964 EHDAA2:0003106 FBbt:00000004 FMA:7154 GAID:61 HAO:0000397 MA:0000023 MAT:0000294 MESH:A01.456 MIAA:0000294 NIF_GrossAnatomy:birnlex_1230 OpenCyc:Mx4rEOLm4rgPEdmAAAACs6hRjg OpenCyc:Mx4rvVi6YJwpEbGdrcN5Y29ycA Organism subdivision that is the part of the body consisting of the cranial and pharyngeal regions.[AAO] Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[TAO] SCTID:302548004 SPD:0000016 TAO:0001114 TGMA:0000002 The head is the anterior-most division of the body [GO]. UBERON:0000033 UMLS:C0018670 VHOG:0001644 Vertebrate evolution has been characterized by a fresh and vast array of cranial structures that collectively form the head.[well established][VHOG] WBbt:0005739 Wikipedia:Head XAO:0003024 ZFA:0001114 adult head cephalic area galen:Head head (volume) ncithesaurus:Head uberon FMA:7154 head (volume) VHOG:0001644 2012-08-14 Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[TAO] TAO TAO:0001114 ZFIN:curator SPD:0000016 cephalic area GO:0060322 The head is the anterior-most division of the body [GO]. Wikipedia:Head 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.82 VHOG VHOG:0001644 Vertebrate evolution has been characterized by a fresh and vast array of cranial structures that collectively form the head.[well established][VHOG] http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010335 AAO:BJB Organism subdivision that is the part of the body consisting of the cranial and pharyngeal regions.[AAO] dorsal root ganglion AAO:0011032 BTO:0001264 CALOHA:TS-0954 DRG Development notes: The sensory ganglia of spinal nerves arise only from the neural crest, whereas many sensory ganglia of the 'dorsal' cranial nerves arise from epibranchial placodes as well as the neural crest[doi: 10.1093/icb/icn065]. Other ontology notes: FMA treats dorsal root ganglion and spinal ganglion as equivalent labels. MA is the only ontology to introduce two classes here (also EHDAA2) EFO:0000900 EHDAA2:0000418 EHDAA2:0001897 EHDAA:2899 EMAPA:16668 EMAPA:18372 EV:0100373 FMA:5888 From comparative analyses of craniate brains, a morphotype of the brain in the earliest craniate stock can be constructed. In marked contrast to cephalochordates, the ancestral craniate morphotype had a plethora of unique features, which included a telencephalon with pallial and subpallial parts, paired olfactory bulbs with substantial projections to most or all of the telencephalic pallium, paired lateral eyes and ears, a lateral line system for both electroreception and mechanoreception, spinal cord dorsal root ganglia, and an autonomic nervous system.[well established][VHOG] MA:0000231 MA:0000232 MAT:0000162 MIAA:0000162 NIF_GrossAnatomy:birnlex_2596 SCTID:244455004 TAO:0000200 Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves.[TAO] UBERON:0000044 UMLS:C0017070 VHOG:0000222 Wikipedia:Dorsal_root_ganglion XAO:0000210 ZFA:0000200 dorsal root ganglia dorsal root ganglion ganglion of dorsal root ganglion on the dorsal root of each spinal nerve that is one of a series of ganglia lodging cell bodies of sensory neurons[BTO]. Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves[..]. one on the posterior root of each spinal nerve, composed of unipolar nerve cell bodies of the sensory neurons of the nerve[TFD]. ganglion sensorium nervi spinalis ganglion spinale ganglion spinalis http://upload.wikimedia.org/wikipedia/commons/7/71/DRG_Chicken_e7.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/7/71/DRG_Chicken_e7.jpg/200px-DRG_Chicken_e7.jpg ncithesaurus:Dorsal_Root_Ganglion spinal ganglion uberon 2012-09-17 DOI:10.1002/1097-0185(20000615)261:3<111::AID-AR6>3.0.CO;2-F Butler AB, Chordate evolution and the origin of craniates: An old brain in a new head. AnaT Rec (New Anat) (2000) From comparative analyses of craniate brains, a morphotype of the brain in the earliest craniate stock can be constructed. In marked contrast to cephalochordates, the ancestral craniate morphotype had a plethora of unique features, which included a telencephalon with pallial and subpallial parts, paired olfactory bulbs with substantial projections to most or all of the telencephalic pallium, paired lateral eyes and ears, a lateral line system for both electroreception and mechanoreception, spinal cord dorsal root ganglia, and an autonomic nervous system.[well established][VHOG] VHOG VHOG:0000222 http://bgee.unil.ch/ UBERONREF:0000002 ZFA BTO:0001264 ganglion sensorium nervi spinalis Wikipedia:Dorsal_root_ganglion ganglion sensorium nervi spinalis BTO:0001264 dorsal root ganglion BTO:0001264 ganglion spinale 2012-08-14 TAO TAO:0000200 Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves.[TAO] ZFIN:curator FMA:5888 spinal ganglion OBOL:automatic ganglion of dorsal root VHOG:0000222 FMA:5888 ganglion spinalis Wikipedia:Dorsal_root_ganglion ganglion on the dorsal root of each spinal nerve that is one of a series of ganglia lodging cell bodies of sensory neurons[BTO]. Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves[..]. one on the posterior root of each spinal nerve, composed of unipolar nerve cell bodies of the sensory neurons of the nerve[TFD]. dorsal root ganglia ganglion A biological tissue mass, most commonly a mass of nerve cell bodies. AAO:0010426 AEO:0000135 BTO:0000497 CALOHA:TS-0397 Cranial sensory placodes are focused areas of the head ectoderm of vertebrates that contribute to the development of the cranial sense organs and their associated ganglia. Placodes have long been considered a key character of vertebrates, and their evolution is proposed to have been essential for the evolution of an active predatory lifestyle by early vertebrates.[well established][VHOG] EFO:0000899 EHDAA2:0003135 EHDAA:2897 EHDAA:4662 EHDAA:5621 EHDAA:918 EV:0100372 FBbt:00005137 FMA:5884 MA:0002406 MAT:0000207 MAT:0000343 MESH:A08.340 MIAA:0000207 MIAA:0000343 NIF_GrossAnatomy:nlx_anat_100302 Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system.[AAO] Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)[TAO] TAO:0000190 TGMA:0001016 TODO - check vert vs invert. Other species: Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia). // Subdivision of neural tree (organ) which primarily consists of cell bodies of neurons located outside the neuraxis (brain and spinal cord); together with a nucleus and its associated nerve, it constitutes a neural tree (organ). Examples: spinal ganglion, trigeminal ganglion, superior cervical ganglion, celiac ganglion, inferior hypogastric (pelvic) ganglion. // a cluster of nerve cells and associated glial cells (nuclear location) // Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system. // Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com). UBERON:0000045 UMLS:C0017067 VHOG:0000156 WBbt:0005189 Wikipedia:Ganglion XAO:0000209 ZFA:0000190 ganglia ganglionic ncithesaurus:Ganglion neural ganglion uberon 2012-09-17 Cranial sensory placodes are focused areas of the head ectoderm of vertebrates that contribute to the development of the cranial sense organs and their associated ganglia. Placodes have long been considered a key character of vertebrates, and their evolution is proposed to have been essential for the evolution of an active predatory lifestyle by early vertebrates.[well established][VHOG] DOI:10.1016/j.ydbio.2005.02.021 Mazet F, Hutt JA, Milloz J, Millard J, Graham A, Shimeld SM, Molecular evidence from Ciona intestinalis for the evolutionary origin of vertebrate sensory placodes. Developmental Biology (2005) VHOG VHOG:0000156 http://bgee.unil.ch/ A biological tissue mass, most commonly a mass of nerve cell bodies. Wikipedia:Ganglion VHOG:0000156 2012-06-20 AAO AAO:0010426 AAO:EJS Portion of tissue that contains cell bodies of neurons and is located outside the central nervous system.[AAO] 2012-08-14 Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)[TAO] TAO TAO:0000190 ZFIN:curator BTO:0000497 neural ganglion ureter AAO:0010254 Anatomical structure consisting of long narrow duct which carries urine from the kidney to the urinary bladder.[AAO] BTO:0001409 CALOHA:TS-1084 EFO:0000930 EHDAA2:0002139 EHDAA:9341 EMAPA:17950 EV:0100097 FMA:9704 GAID:438 MA:0000378 MAT:0000120 MESH:A05.810.776 MIAA:0000120 Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. In humans, organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: the right and the left ureters. OpenCyc:Mx4rvhmm6JwpEbGdrcN5Y29ycA SCTID:302511008 The duct of amniotes that carries urine from a metanephric kidney to the urinary bladder. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG] UBERON:0000056 UMLS:C0041951 VHOG:0000605 Wikipedia:Ureter XAO:0000144 galen:Ureter http://upload.wikimedia.org/wikipedia/commons/3/30/Urinary_system.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/30/Urinary_system.svg/200px-Urinary_system.svg.png metanephric duct ncithesaurus:Ureter uberon ureteral ureteric VHOG:0000605 MA:0000378 2012-06-20 AAO AAO:0010254 AAO:BJB Anatomical structure consisting of long narrow duct which carries urine from the kidney to the urinary bladder.[AAO] 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.543 The first embryonic hint of a metanephros is the formation of the metanephric duct that appears as a ureteric diverticulum arising at the base of preexisting mesonephric duct. The ureteric diverticulum grows dorsally into the posterior region of the nephric ridge. Here it enlarges and stimulates the growth of metanephric tubules that come to make up the metanephric kidney. The metanephros becomes the adult kidney of amniotes, and the metanephric duct is usually called the ureter.[well established][VHOG] VHOG VHOG:0000605 http://bgee.unil.ch/ FMA:9704 GO:0090189 Muscular duct that propels urine from the kidneys to the urinary bladder, or related organs. In humans, organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: the right and the left ureters. Wikipedia:Ureter 2012-09-17 The duct of amniotes that carries urine from a metanephric kidney to the urinary bladder. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] VHOG VHOG:0000605 http://bgee.unil.ch/ ISBN10:0073040584 VHOG:0000605 metanephric duct urethra A tube which connects the urinary bladder to the outside of the body. In males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. The external urethral sphincter is a striated muscle that allows voluntary control over urination. BTO:0001426 CALOHA:TS-1132 EFO:0000931 EMAPA:30901 EV:0100099 FMA:19667 GAID:390 MA:0000379 MAT:0000121 MESH:A05.360.444.492.726 MIAA:0000121 OpenCyc:Mx4rvVjkypwpEbGdrcN5Y29ycA SCTID:302513006 UBERON:0000057 UMLS:C0041967 VHOG:0001264 Wikipedia:Urethra XAO:0000153 galen:Urethra http://upload.wikimedia.org/wikipedia/commons/thumb/c/cb/Female_anatomy.png/200px-Female_anatomy.png ncithesaurus:Urethra uberon urethral A tube which connects the urinary bladder to the outside of the body. In males, the urethra travels through the penis, and carries semen as well as urine. In females, the urethra is shorter and emerges above the vaginal opening. The external urethral sphincter is a striated muscle that allows voluntary control over urination. Wikipedia:Urethra VHOG:0001264 large intestine A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]. AAO:0010396 BTO:0000706 CALOHA:TS-1306 EFO:0000840 EMAPA:19252 EV:0100077 FMA:7201 GAID:306 Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG] MA:0000333 MESH:A03.492.411.495 MIAA:0000046 OpenCyc:Mx4rvVkF5pwpEbGdrcN5Y29ycA SCTID:181254001 UBERON:0000059 UMLS:C0021851 VHOG:0000054 Wikipedia:Large_intestine_(anatomy) XAO:0000131 galen:LargeIntestine intestinum crassum ncithesaurus:Large_Intestine uberon VHOG:0000054 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.566 Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG] VHOG VHOG:0000054 http://bgee.unil.ch/ BTO:0000706 intestinum crassum A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]. ISBN10:0073040584 Wikipedia:Large_intestine_(anatomy) larval stage BTO:0000915 BTO:0000954 EFO:0001303 FBdv:00005336 It is a misunderstanding that the larval form always reflects the group's evolutionary history. It could be the case, but often the larval stage has evolved secondarily, as in insects. In these cases the larval form might differ more from the group's common origin than the adult form[WP]. Uberon includes clade-specific subclasses. MIAA:0000400 OGES:000008 UBERON:0000069 Wikipedia:Larva ZFS:0000048 a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle. ammocoete ammocoete stage bipinnaria bipinnaria stage caterpillar caterpillar stage glochidium glochidium stage grub grub stage larva larva stage leptocephalus leptocephalus stage maggot maggot stage metacestode naiad, nymph naiad, nymph stage nauplius nauplius stage nymph nymph stage planula planula stage tornaria trochophore trochophore stage uberon veliger veliger stage wriggler wriggler stage zoea zoea stage Wikipedia:Larva leptocephalus Wikipedia:Larva trochophore stage Wikipedia:Larva nauplius Wikipedia:Larva grub stage Wikipedia:Larva wriggler stage Wikipedia:Larva glochidium stage Wikipedia:Larva ammocoete stage Wikipedia:Larva caterpillar Wikipedia:Larva bipinnaria Wikipedia:Larva nymph Wikipedia:Larva naiad, nymph stage Wikipedia:Larva bipinnaria stage Wikipedia:Larva planula Wikipedia:Larva wriggler Wikipedia:Larva planula stage Wikipedia:Larva nymph stage Wikipedia:Larva glochidium Wikipedia:Larva trochophore Wikipedia:Larva caterpillar stage Wikipedia:Larva a distinct juvenile stage many animals undergo before metamorphosis into adults. Animals with indirect development such as insects, amphibians, or cnidarians typically have a larval phase of their life cycle. Wikipedia:Larva zoea stage Wikipedia:Larva veliger Wikipedia:Larva veliger stage Wikipedia:Larva zoea Wikipedia:Larva grub Wikipedia:Larva maggot Wikipedia:Larva naiad, nymph Wikipedia:Larva leptocephalus stage Wikipedia:Larva maggot stage Wikipedia:Larva ammocoete Wikipedia:Larva nauplius stage BTO:0000859 metacestode NCBITaxon:10219 tornaria renal glomerulus 2009-06-18T09:26:37Z A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. BTO:0000530 CALOHA:TS-0862 EFO:0003667 EV:0100386 FMA:15624 MA:0001657 MESH:A05.810.453.736.520 Melissa Haendel SCTID:362217000 TAO:0001288 UBERON:0000074 UMLS:C0022663 Wikipedia:Glomerulus ZFA - The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes filters blood from the glomerular capillaries. TODO - split glomerulus and glomerular tuft? DONE. GUDMAP: 'Together, the Bowman’s capsule and the glomerulus comprise the definitive renal corpuscle.' - here the glomerulus is part of the capsule? ZFA:0001288 glomerular capillary tuft glomerular tuft glomerulus glomerulus renis http://upload.wikimedia.org/wikipedia/commons/2/22/Renal_corpuscle.svg http://upload.wikimedia.org/wikipedia/commons/3/30/Gray1130.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/30/Gray1130.svg/200px-Gray1130.svg.png malphigian glomerulus ncithesaurus:Glomerulus renal corpuscle renal glomeruli uberon A capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney[GO]. MP:0005325 Wikipedia:Glomerulus renal corpuscle Wikipedia:Glomerulus glomerulus renis glomerular tuft BTO:0000530 malphigian glomerulus ZFA:0001288 glomerular capillary tuft TAO:0001288 renal glomeruli male reproductive system BTO:0000082 By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG] CALOHA:TS-1310 EFO:0000970 EHDAA2:0001054 EHDAA:8136 EMAPA:17968 EV:0100101 FBbt:00004927 FMA:45664 GAID:386 HAO:0000505 MA:0000396 MESH:A05.360.444 OpenCyc:Mx4rvViCepwpEbGdrcN5Y29ycA SCTID:361340001 TGMA:0000634 UBERON:0000079 UMLS:C0017422 UMLS:C1963704 VHOG:0000725 WBbt:0008423 XAO:0000155 genitalia of male organism male genital organ male genital system male genitalia male genitals male organism genitalia male organism reproductive system male reproductive tract ncithesaurus:Male_Genitalia ncithesaurus:Male_Reproductive_System reproductive system of male organism systema genitale masculinum the organs associated with producing offspring in the gender that produces spermatozoa. uberon OBOL:automatic male organism reproductive system 2012-09-17 By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG] ISBN:978-0792383369 Lombardi J, Comparative vertebrate reproduction (1998) p.43 VHOG VHOG:0000725 http://bgee.unil.ch/ FMA:45664 male genital system OBOL:automatic male organism genitalia BTO:0000082 male genital organ VHOG:0000725 BTO:0000082 systema genitale masculinum MA:0000396 male reproductive tract MP:0001145 the organs associated with producing offspring in the gender that produces spermatozoa. OBOL:automatic genitalia of male organism OBOL:automatic reproductive system of male organism mesonephros A kidney formed of nephric tubules arising in the middle region of the nephric ridge; a transient embryonic stage that replaces the pronephros, but is itself replaced by the adult metanephros [in mammals; in fishes and amphibians it is the adult kidney]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG] AAO:0010384 As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates. (...) In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] BTO:0001542 By contrast to the pronephros, the histological features of the mesonephros, with its primitive glomeruli, suggest that it probably functions as a primitive kidney, and is involved in the production of much of the amniotic fluid. Within the two mesonephroi, one located on either side of the dorsal mesentery of the hindgut, a substantial number (in the region of about 40 or more) of cranio-caudally segmented mesonephric tubules are formed. It has, however, been suggested that only the most rostrally located 4-6 pairs of mesonephric tubules drain into the mesonephric portion of the nephric duct. This is now seen to extend along the length of the mesonephroi, being located towards their lateral sides. The mesonephros is also retained over a considerably longer period than the pronephros, but gradually undergoes regression in a cranio-caudal direction. While the rostral part displays clear evidence of regression its more caudal part appears to display evidence of functional activity. Within the medial part of the mesonephros, vesicles are formed, although no glomeruli are formed there in this species. It is, however, difficult to believe that the relatively enormous mesonephroi do not have an excretory role in the mouse, only serving as a base for gonadal differentiation. In the human embryo, the medial part of the mesonephric tubules enlarges, become invaginated by capillaries, and form glomeruli. These then take on an excretory role. In the mouse, the mesonephric ducts appear to be patent throughout their length[GUDMAP] comment: Taxon notes: The mesonephros persists and form the permanent kidneys in fishes and amphibians, but in reptiles, birds, and mammals, it atrophies and for the most part disappears rapidly as the permanent kidney (metanephros) begins to develop during the sixth or seventh week. By the beginning of the fifth month only the ducts and a few of the tubules of the mesonephros remain[WP] CALOHA:TS-0624 EFO:0000928 EHDAA2:0001130 EHDAA:1581 EHDAA:5903 EMAPA:16744 EMAPA:17369 EMAPA:27644 FMA:72171 GAID:1308 In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney[GO]. One of three excretory organs that develop in vertebrates. It serves as the main excretory organ of aquatic vertebrates and as a temporary kidney in higher vertebrates. composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. MESH:A16.254.500 Organ that is the definitive adult kidney. It replaces the earlier pronephros, which degenerates as the mesonephros becomes functional in feeding stage tadpoles.[AAO] SCTID:308799002 TAO:0000529 UBERON:0000080 UMLS:C0025492 VHOG:0000038 Wikipedia:Mesonephros Wolffian body XAO:0000141 ZFA:0000529 http://upload.wikimedia.org/wikipedia/commons/a/ad/Gray986.png http://upload.wikimedia.org/wikipedia/commons/thumb/a/ad/Gray986.png/200px-Gray986.png mesonephric mesonephric kidney mesonephroi ncithesaurus:Mesonephros opisthonephros opisto nephros opistonephros uberon 2012-06-20 AAO AAO:0010384 AAO:BJB Organ that is the definitive adult kidney. It replaces the earlier pronephros, which degenerates as the mesonephros becomes functional in feeding stage tadpoles.[AAO] VHOG:0000038 2012-09-17 As the pronephros regresses, the archinephric duct induces the sequential differentiation of tubules in the more caudal parts of the nephric ridge. (...) Tubules that differentiate in the middle part of the nephric ridge form a kidney called the mesonephros. This kidney functions in the embryos and larvae of all vertebrates. (...) In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.639 VHOG VHOG:0000038 http://bgee.unil.ch/ GO:0001823 In mammals, the mesonephros is the second of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the mesonephros will form the mature kidney[GO]. One of three excretory organs that develop in vertebrates. It serves as the main excretory organ of aquatic vertebrates and as a temporary kidney in higher vertebrates. composed of the mesonephric duct (also called the Wolffian duct), mesonephric tubules, and associated capillary tufts. A single tubule and its associated capillary tuft is called a mesonephric excretory unit; these units are similar in structure and function to nephrons of the adult kidney. The mesonephros is derived from intermediate mesoderm in the vertebrate embryo. Wikipedia:Mesonephros 2012-09-17 A kidney formed of nephric tubules arising in the middle region of the nephric ridge; a transient embryonic stage that replaces the pronephros, but is itself replaced by the adult metanephros [in mammals; in fishes and amphibians it is the adult kidney]. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.745][VHOG] VHOG VHOG:0000038 http://bgee.unil.ch/ http://www.gudmap.org/About/Tutorial/DevMUS.html#DMK_Nephron mesonephroi BTO:0001542 GOC:yaf MESH:A16.254.500 Wikipedia:Mesonephros Wolffian body VHOG:0000038 XAO:0000141 opisthonephros XAO:0000141 mesonephric kidney http://www.usm.maine.edu/bio/courses/bio205/bio205_26_sex.html opistonephros inner cell mass A group of cells found in the mammalian blastocyst that give rise to the embryo. [Biology_Online][VHOG] A small sphere of cells known as the inner cell mass lies within the trophoblast (of all eutherian mammals).[well established][VHOG] EFO:0000547 EHDAA2:0000830 EHDAA:40 EMAPA:16041 FMA:86557 ICM Mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred. The ICM lies within the blastocoele (more correctly termed 'blastocyst cavity', as it is not strictly homologous to the blastocoele of anamniote vertebrates) and is entirely surrounded by the single layer of cells called trophoblast. SCTID:361456007 UBERON:0000087 UMLS:C1283994 VHOG:0000742 Wikipedia:Inner_cell_mass embryoblast embryoblastus; massa cellularis interna; pluriblastus senior http://upload.wikimedia.org/wikipedia/commons/7/72/Blastocyst_English.svg http://upload.wikimedia.org/wikipedia/commons/thumb/7/72/Blastocyst_English.svg/200px-Blastocyst_English.svg.png ncithesaurus:Inner_Cell_Mass pluriblast uberon 2012-09-17 A group of cells found in the mammalian blastocyst that give rise to the embryo. [Biology_Online][VHOG] VHOG VHOG:0000742 http://bgee.unil.ch/ EHDAA2 VHOG:0000742 2012-09-17 A small sphere of cells known as the inner cell mass lies within the trophoblast (of all eutherian mammals).[well established][VHOG] ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.144 VHOG VHOG:0000742 http://bgee.unil.ch/ Wikipedia Wikipedia:Inner_cell_mass embryoblastus; massa cellularis interna; pluriblastus senior Mass of cells inside the primordial embryo that will eventually give rise to the definitive structures of the fetus. This structure forms in the earliest steps of development, before implantation into the endometrium of the uterus has occurred. The ICM lies within the blastocoele (more correctly termed 'blastocyst cavity', as it is not strictly homologous to the blastocoele of anamniote vertebrates) and is entirely surrounded by the single layer of cells called trophoblast. Wikipedia:Inner_cell_mass ICM VHOG:0000742 cleavage stage BILS:0000107 BilaDO:0000006 EFO:0001290 MESH:A16.254.270 MmusDv:0000004 OGES:000015 OGES:000020 PdumDv:0000200 The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. UBERON:0000107 Wikipedia:Cleavage_(embryo) XAO:1000004 ZFS:0000046 uberon GO:0040016 The first few specialized divisions of an activated animal egg; Stage consisting of division of cells in the early embryo. The zygotes of many species undergo rapid cell cycles with no significant growth, producing a cluster of cells the same size as the original zygote. The different cells derived from cleavage are called blastomeres and form a compact mass called the morula. Cleavage ends with the formation of the blastula. Wikipedia:Cleavage_(embryo) blastula stage An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. BILS:0000108 BilaDO:0000007 EFO:0001282 HsapDv:0000006 MmusDv:0000007 OGES:000003 OGES:000016 OGES:000021 OpenCyc:Mx4rEetFnKP2EdqAAAACs4vPlg UBERON:0000108 Wikipedia:Blastula XAO:1000003 ZFS:0000045 http://upload.wikimedia.org/wikipedia/commons/c/c6/Blastulation.png http://upload.wikimedia.org/wikipedia/commons/thumb/c/c6/Blastulation.png/200px-Blastulation.png uberon An early stage of embryonic development in animals. It is produced by cleavage of a fertilized ovum and consists of a spherical layer of around 128 cells surrounding a central fluid-filled cavity called the blastocoel. The blastula follows the morula and precedes the gastrula in the developmental sequence. Wikipedia:Blastula gastrula stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. BILS:0000109 BilaDO:0000008 EFO:0001296 FBdv:00005317 HsapDv:0000010 MmusDv:0000013 OGES:000004 OGES:000019 UBERON:0000109 XAO:1000005 ZFS:0000047 blastocystis trilaminaris stage trilaminar blastocyst stage trilaminar blastoderm stage trilaminar disk stage trilaminar germ stage trilaminar stage uberon blastocystis trilaminaris stage https://orcid.org/0000-0002-6601-2165 https://orcid.org/0000-0002-6601-2165 trilaminar blastocyst stage A stage defined by complex and coordinated series of cellular movements that occurs at the end of cleavage during embryonic development of most animals. The details of gastrulation vary from species to species, but usually result in the formation of the three primary germ layers, ectoderm, mesoderm and endoderm. GO:0007369 https://orcid.org/0000-0002-6601-2165 trilaminar stage https://orcid.org/0000-0002-6601-2165 trilaminar blastoderm stage https://orcid.org/0000-0002-6601-2165 trilaminar germ stage https://orcid.org/0000-0002-6601-2165 trilaminar disk stage juvenile stage BILS:0000112 BTO:0002168 Consider renaming this to '(sexually) immature stage'; in mammals this would include infant (nourishment from lactation) and juvenile (prepubertal no longer dependent on mother) EFO:0001300 EV:0300051 MmusDv:0000043 OGES:000009 TS28 The stage of being a sexually immature adult animal[XAO:1000010]. UBERON:0000112 XAO:1000010 XtroDO:0000083 ZFS:0000051 immature stage uberon The stage of being a sexually immature adult animal[XAO:1000010]. XAO:1000010 VHOG:FB immature stage pelvic fin BTO:0004651 EFO:0003644 Paired fin located in the abdominal position of the body. Paired fin located in the abdominal position of the body.[TAO] Paired fin located in the abdominal position of the body.[VSAO] TAO:0001184 UBERON:0000152 VSAO:0000129 Wikipedia:Pectoral_fin#Fins ZFA:0001184 ischioptérygie@fr nageoire pelvienne@fr uberon 2012-08-14 Paired fin located in the abdominal position of the body.[TAO] TAO TAO:0001184 TAO:wd VSAO:0000129 nageoire pelvienne@fr Paired fin located in the abdominal position of the body. TAO:curator VSAO:0000129 2012-08-14 Paired fin located in the abdominal position of the body.[VSAO] TAO:curator VSAO VSAO:0000129 VSAO:0000129 ischioptérygie@fr theca cell layer A layer of the ovarian follicles. They appear as the follicles become tertiary follicles. The theca folliculi are responsible for the production of testosterone from androstenedione in females, and indirectly the production of estrogens by supplying the neighboring granulosa cells with androstenedione that can then be used as a substrate for aromatase. BTO:0002853 EFO:0003629 FMA:18656 SCTID:361385000 TAO:0001113 UBERON:0000155 Wikipedia:Theca_of_follicle ZFA:0001113 layer of theca cells theca cell layer of ovarian follicle theca folliculi theca of follicle thecal cell layer uberon ZFA:0001113 thecal cell layer Wikipedia:Theca_of_follicle theca folliculi A layer of the ovarian follicles. They appear as the follicles become tertiary follicles. The theca folliculi are responsible for the production of testosterone from androstenedione in females, and indirectly the production of estrogens by supplying the neighboring granulosa cells with androstenedione that can then be used as a substrate for aromatase. Wikipedia:Theca_of_follicle intestine AAO:0000246 ANISEED:1235303 BTO:0000648 CALOHA:TS-0490 EFO:0000834 EV:0100071 FMA:7199 GAID:295 MA also has a class MA:0001524 bowel, not clear how this is different. Usage notes: this class is currently very general, encompassing the C elegans 'intestine', which is a tube of epithelial cells extending from the 'pharynx' to 'rectum'. Taxon notes: [in zebrafish] No stomach, small intestine, or large intestine can be distinguished. However, differences can be found in the morphology of the mucosa columnar epithelial cells and the number of goblet cells, suggesting functional differentiation. The intestine has numerous folds that become progressively shorter in a rostral-to-caudal direction. Proportionally, these folds are significantly larger than the finger-like intestinal villi of mammals and other amniotes (Wallace et al. 2005). Columnar-shaped absorptive enterocytes are the most numerous in the zebrafish intestinal epithelium. Goblet cells are the second most populous epithelial cell type. MA:0000328 MA:0001524 MESH:A03.492.411 MIAA:0000043 Portion of the alimentary canal bounded anteriorly by the pyloric sphincter and posteriorly by the cloacal sphincter.[AAO] SCTID:256876008 Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. TAO:0001338 The tract of the alimentary canal. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:0000160 UMLS:C0021853 VHOG:0000056 WBbt:0005772 Wikipedia:Intestine XAO:0000129 ZFA:0001338 bowel galen:Intestine intestinal ncithesaurus:Intestine uberon GOC:GO Segment of the alimentary canal extending from the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine. Wikipedia:Intestine 2012-09-17 The tract of the alimentary canal. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000056 http://bgee.unil.ch/ VHOG:0000056 2012-06-20 AAO AAO:0000246 AAO:EJS Portion of the alimentary canal bounded anteriorly by the pyloric sphincter and posteriorly by the cloacal sphincter.[AAO] mouth AAO:0010355 AO notes: in FMA, the tongue, palate etc are part of the mouth which is itself a subdivision of the face. BTO:0001090 BTO:0004698 CALOHA:TS-1315 Cavity in which food is initially ingested and generally contains teeth, tongue and glands.[AAO] EFO:0000825 EHDAA2:0001326 EHDAA:542 EMAPA:16262 FBbt:00003126 FMA:49184 GAID:75 MA:0000341 MA:0002474 MAT:0000038 MESH:A01.456.505.631 MIAA:0000038 Molecular and developmental cell lineage data suggest that the acoel mouth opening is homologous to the mouth of protostomes and deuterostomes and that the last common ancestor of the Bilateria (the 'urbilaterian') had only this single digestive opening.[well established][VHOG] OpenCyc:Mx4rvVidh5wpEbGdrcN5Y29ycA SCTID:21082005 TADS:0000040 TAO:0000547 TAO:0000590 TGMA:0000131 The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes teeth, gums, lips, tongue and parts of the palate. UBERON:0000165 VHOG:0000280 VHOG:0000812 Wikipedia:Mouth XAO:0003029 ZFA:0000547 ZFA:0000590 adult mouth cavital oralis cavitas oris cavum oris galen:Mouth http://purl.obolibrary.org/obo/uberon/images/lamprey_sucker_rosava_3238889218.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/0/06/Mouth_illustration-Otis_Archives.jpg/180px-Mouth_illustration-Otis_Archives.jpg mouth cavity oral oral region oral vestibule regio oralis rima oris stoma stomatodaeum uberon vestibule of mouth vestibulum oris BTO:0001090 cavitas oris BTO:0001090 mouth cavity 2012-06-20 AAO AAO:0010355 AAO:BJB Cavity in which food is initially ingested and generally contains teeth, tongue and glands.[AAO] Wikipedia:Mouth cavital oralis BTO:0001090 vestibule of mouth BTO:0001090 vestibulum oris BTO:0001090 cavum oris BTO:0001090 rima oris 2012-09-17 DOI:10.1038/nature07309 Hejnol A, Martindale MQ, Acoel development indicates the independent evolution of the bilaterian mouth and anus. Nature (2008) Molecular and developmental cell lineage data suggest that the acoel mouth opening is homologous to the mouth of protostomes and deuterostomes and that the last common ancestor of the Bilateria (the 'urbilaterian') had only this single digestive opening.[well established][VHOG] VHOG VHOG:0000812 http://bgee.unil.ch/ BTO:0004698 regio oralis EHDAA2:0001326 oral region The proximal portion of the digestive tract, containing the oral cavity and bounded by the oral opening. In vertebrates, this extends to the pharynx and includes teeth, gums, lips, tongue and parts of the palate. Wikipedia:Mouth http://purl.obolibrary.org/obo/uberon/references/reference_0000034 VHOG:0000280 BTO:0001090 oral vestibule FMA:49184 FMA:TA regio oralis VHOG:0000812 stomatodaeum blood A complex mixture of cells suspended in a liquid matrix that delivers nutrients to cells and removes wastes. (Source: BioGlossary, www.Biology-Text.com)[TAO] AAO:0000046 BTO:0000089 CALOHA:TS-0079 Circulating body substance which consists of blood plasma and hemoglobin-carrying red blood cells. Excludes blood analogues (see UBERON:0000179 haemolymphatic fluid). EFO:0000296 EHDAA2:0000176 EHDAA:418 EMAPA:16332 ENVO:02000027 EV:0100047 FMA:9670 GAID:965 Highly specialized circulating tissue consisting of several types of cells suspended in a fluid medium known as plasma.[AAO] MA:0000059 MESH:A12.207.152 MIAA:0000315 OpenCyc:Mx4rvVjI8JwpEbGdrcN5Y29ycA Recent findings strongly suggest that the molecular pathways involved in the development and function of blood cells are highly conserved among vertebrates and various invertebrates phyla. (...) There is now good reason to believe that, in vertebrates and invertebrates alike, blood cell lineages diverge from a common type of progenitor cell, the hemocytoblast.[well established][VHOG] TAO:0000007 UBERON:0000178 UMLS:C0005767 VHOG:0000224 Wikipedia:Blood XAO:0000124 ZFA:0000007 galen:Blood ncithesaurus:Blood portion of blood relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO] uberon vertebrate blood whole blood 2012-06-20 AAO AAO:0000046 relationship loss: subclass specialized connective tissue (AAO:0000571)[AAO] 2012-09-17 DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood cells and blood cell development in the animal kingdom. Annual review of cell and developmental biology (2006) Recent findings strongly suggest that the molecular pathways involved in the development and function of blood cells are highly conserved among vertebrates and various invertebrates phyla. (...) There is now good reason to believe that, in vertebrates and invertebrates alike, blood cell lineages diverge from a common type of progenitor cell, the hemocytoblast.[well established][VHOG] VHOG VHOG:0000224 http://bgee.unil.ch/ Circulating body substance which consists of blood plasma and hemoglobin-carrying red blood cells. Excludes blood analogues (see UBERON:0000179 haemolymphatic fluid). FMA:9670 Wikipedia:Blood 2012-06-20 AAO AAO:0000046 AAO:LAP Highly specialized circulating tissue consisting of several types of cells suspended in a fluid medium known as plasma.[AAO] 2012-08-14 A complex mixture of cells suspended in a liquid matrix that delivers nutrients to cells and removes wastes. (Source: BioGlossary, www.Biology-Text.com)[TAO] TAO TAO:0000007 ZFIN:curator BTO:0000089 whole blood VHOG:0000224 ligament CALOHA:TS-2145 Compared with their Ediacarian predecessor, Cambrian animals in general were characterized by their much stouter bodies. The stoutness of the body is likely due to the formation of ligaments and tendons, which in turn requires the crosslinking of collagen triple helices.[well established][VHOG] Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ. EFO:0001966 FMA:21496 MA:0000113 MESH:A02.513 Nonparenchymatous organ that primarily consists of dense connective tissue aggregated into fasciculi by connective tissue. Examples: sutural ligament, radiate sternocostal ligament, ligament of liver, ovarian ligament[FMA][FMA:21496]. Note this groups both skeletal and non-skeletal ligaments. What is called a "ligament" in many AOs is actually a skeletal ligament OpenCyc:Mx4rvVjqpZwpEbGdrcN5Y29ycA Portion of connective tissue that connects bone or cartilage.[TAO] SCTID:182358004 TAO:0001682 UBERON:0000211 UMLS:C0023685 VHOG:0001272 VSAO:0000072 Wikipedia:Ligament XAO:0004031 ZFA:0001675 galen:Ligament http://upload.wikimedia.org/wikipedia/commons/9/9a/Knee_diagram.svg ligament organ ncithesaurus:Ligament uberon FMA:21496 Nonparenchymatous organ that primarily consists of dense connective tissue aggregated into fasciculi by connective tissue. Examples: sutural ligament, radiate sternocostal ligament, ligament of liver, ovarian ligament[FMA][FMA:21496]. VHOG:0001272 FMA:21496 ligament organ 2012-09-17 Compared with their Ediacarian predecessor, Cambrian animals in general were characterized by their much stouter bodies. The stoutness of the body is likely due to the formation of ligaments and tendons, which in turn requires the crosslinking of collagen triple helices.[well established][VHOG] PMID:8710894 Ohno S, The notion of the Cambrian pananimalia genome. PNAS (1996) VHOG VHOG:0001272 http://bgee.unil.ch/ Dense regular connective tissue connecting two or more adjacent skeletal elements or supporting an organ. GO_REF:0000034 VSAO:0000073 http://dx.plos.org/10.1371/journal.pone.0051070 2012-08-14 Portion of connective tissue that connects bone or cartilage.[TAO] TAO TAO:0001682 TAO:wd breast mammary part of chest The breast is the upper ventral region of an animal's torso, particularly that of mammals, including human beings. The breasts of a female primate’s body contain the mammary glands, which secrete milk used to feed infants. Both men and women develop breasts from the same embryological tissues. However, at puberty female sex hormones, mainly estrogens, promote breast development, which does not happen with men. As a result women's breasts become more prominent than men's FMA:9601 mammary region colonic mucosa A mucosa that is part of a colon [Automatically generated definition]. BTO:0000271 CALOHA:TS-0164 EFO:0003038 EMAPA:27375 FMA:14984 FMA:85388 SCTID:362157008 UBERON:0000317 UBERON:0003347 UBERON:0004981 colon mucosa colon mucosa of organ colon mucous membrane colon organ mucosa colonic mucosa colonic mucous membrane large bowel mucosa large bowel mucosa of organ large bowel mucous membrane large bowel organ mucosa mucosa of colon mucosa of large bowel mucosa of organ of colon mucosa of organ of large bowel mucosa of segment of colon mucous membrane of colon mucous membrane of large bowel organ mucosa of colon organ mucosa of large bowel uberon OBOL:automatic colon mucous membrane OBOL:automatic large bowel mucous membrane OBOL:automatic mucosa of large bowel OBOL:automatic mucous membrane of colon OBOL:automatic organ mucosa of colon A mucosa that is part of a colon [Automatically generated definition]. OBOL:automatic OBOL:automatic large bowel mucosa FMA:14984 colon mucosa OBOL:automatic large bowel mucosa of organ FMA:14984 mucosa of colon OBOL:automatic colon mucosa of organ OBOL:automatic mucosa of organ of colon OBOL:automatic mucous membrane of large bowel OBOL:automatic organ mucosa of large bowel OBOL:automatic mucosa of organ of large bowel OBOL:automatic colon organ mucosa FMA:85388 mucosa of segment of colon OBOL:automatic large bowel organ mucosa FMA:14984 colonic mucous membrane late embryo BTO:0000449 CALOHA:TS-0360 EFO:0001323 FBbt:00005333 FMA:63919 GAID:552 MESH:A16.378 OpenCyc:Mx4rvZfC2ZwpEbGdrcN5Y29ycA SCTID:83418008 TODO - check fetus/embryo. WP: An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination. In humans, it is called an embryo until about eight weeks after fertilization (i.e. ten weeks LMP), and from then it is instead called a fetus. UBERON:0000323 UMLS:C0015965 embryo late growth stage embryo late stage fetus ncithesaurus:Fetus uberon BTO:0000449 embryo late growth stage BTO:0000449 fetus BTO:0000449 embryo late stage blastocyst BTO:0001099 CALOHA:TS-0076 EFO:0000295 EV:0100394 Editor's note: Gilbert fig11.32 has blastocyst has giving rise to ICM and trophoblast (which in this source is a synonym for trophectoderm) FMA:83041 GAID:1153 MESH:A16.254.085 SCTID:308837009 The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. UBERON:0000358 UMLS:C1281743 Wikipedia:Blastocyst blastocystis blastula http://upload.wikimedia.org/wikipedia/commons/7/72/Blastocyst_English.svg http://upload.wikimedia.org/wikipedia/commons/thumb/7/72/Blastocyst_English.svg/200px-Blastocyst_English.svg.png ncithesaurus:Blastocyst uberon GO:0001824 The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm[GO]. Wikipedia:Blastocyst FMA:83041 blastula Wikipedia:Blastocyst blastocystis corpus striatum BTO:0001311 CALOHA:TS-0183 EFO:0000381 EMAPA:17549 EV:0100184 FMA:77616 GAID:667 MESH:A08.186.211.730.885.105.487 SCTID:279318005 The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]. The term has been used in a few different ways: * It is a pair of nuclear masses which form the basal ganglia, along with the subthalamic nucleus and the substantia nigra. * It may also refer to both the basal ganglia and internal capsule collectively.[2] * According to the 1917 version of Gray's Anatomy, it is the combination of the lentiform nucleus (also known as the lenticular nucleus) and the caudate nucleus * According to BrainInfo it is a part of the basal ganglia comprising the globus pallidus and striatum Thus, certain telencephalic characters - such as the presence of a pallium divided into lateral, dorsal, and medial formations and a subpallium divided into striatum and septum - appear to characterize all vertebrates. They are primitive characters and are homologous among all vertebrates.[well established][VHOG] UBERON:0000369 UMLS:C0010097 VHOG:0001175 Wikipedia:Corpus_striatum http://upload.wikimedia.org/wikipedia/commons/thumb/b/b3/Gray656.png/200px-Gray656.png ncithesaurus:Corpus_Striatum striate body striated body uberon 2012-09-17 DOI:10.1146/annurev.ne.04.030181.001505, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.487 Figure 14-10 Thus, certain telencephalic characters - such as the presence of a pallium divided into lateral, dorsal, and medial formations and a subpallium divided into striatum and septum - appear to characterize all vertebrates. They are primitive characters and are homologous among all vertebrates.[well established][VHOG] VHOG VHOG:0001175 http://bgee.unil.ch/ VHOG:0001175 BTO:0001311 striated body The corpus striatum (striated body) is a compound structure consisting of the caudate nucleus and the lentiform nucleus, which consists of the putamen and the globus pallidus[WP]. Wikipedia:Corpus_striatum MA BTO:0001311 striate body musculature of body AAO:0000307 AO notes: we place the MA term musculature here, rather than under uberon:musculature, as this seems more appropriate given the structure of MA Anatomical system that consists of all the muscles of the body[VSAO, modified]. Anatomical system that consists of the muscles of the body.[VSAO] BILA:0000088 BTO:0001369 BTO:0001485 EFO:0000801 FBbt:00005069 FMA:72954 MA:0002888 MAT:0000025 MIAA:0000025 UBERON:0000383 VSAO:0000033 XAO:0004042 muscle system muscle system of body muscular system musculature system muskelsystem set of all muscles set of muscles of body uberon vertebrate muscular system BTO:0001485 muskelsystem FMA:72954 set of muscles of body FMA:72954 muscular system FMA:72954 set of all muscles 2012-08-14 Anatomical system that consists of the muscles of the body.[VSAO] VSAO VSAO:0000033 VSAO:curator BILA:0000088 musculature system Anatomical system that consists of all the muscles of the body[VSAO, modified]. VSAO:0000033 BTO:0001369 vertebrate muscular system visual cortex Area of the occipital lobe concerned with vision. BTO:0001857 CALOHA:TS-1117 EFO:0000916 EV:0100171 Editor note: merge with primary visual cortex? FMA and BTO treat as distinct FMA:242644 GAID:679 MESH:A08.186.211.730.885.213.571.735 UBERON:0000411 V1 http://upload.wikimedia.org/wikipedia/commons/thumb/7/70/Brodmann_areas_17_18_19.png/200px-Brodmann_areas_17_18_19.png striate cortex uberon MESH:A08.186.211.730.885.213.571.735 striate cortex Area of the occipital lobe concerned with vision. MESH:A08.186.211.730.885.213.571.735 BTO V1 Wikipedia:Visual_cortex septum of telencephalon Gray matter structure located on the midline of the forebrain consisting of the septum pellucidum (in some species) and the septal nuclei (Heimer, 1996). area septalis prefrontal cortex BTO:0002807 EFO:0001384 FMA:224850 GAID:676 MA:0000906 MESH:A08.186.211.730.885.213.270.700 NIF_GrossAnatomy:nlx_anat_090801 TODO - check MA The prefrontal cortex (PFC) is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas. This brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals. The most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes). Many authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. [WP,unvetted]. UBERON:0000451 Wikipedia:Prefrontal_cortex frontal association cortex http://upload.wikimedia.org/wikipedia/commons/5/59/Gray726-Brodman-prefrontal.svg http://upload.wikimedia.org/wikipedia/commons/thumb/5/59/Gray726-Brodman-prefrontal.svg/200px-Gray726-Brodman-prefrontal.svg.png prefrontal association complex prefrontal association cortex uberon MA:0000906 frontal association cortex The prefrontal cortex (PFC) is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas. This brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals. The most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes). Many authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. [WP,unvetted]. Wikipedia:Prefrontal_cortex FMA:224850 prefrontal association cortex BTO:0002807 prefrontal association complex decidua basalis BTO:0002819 EFO:0001918 FMA:86477 MA:0002905 Region between the blastocyst and the myometrium. SCTID:362841006 UBERON:0000453 UMLS:C0230965 decidua serotina development notes: As the embryo enlarges, the decidua capsularis becomes stretched and smooth. Eventually the decidua capsularis merges with the decidua parietalis, obliterating the uterine cavity ncithesaurus:Decidua_Basalis uberon Region between the blastocyst and the myometrium. http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm BTO:0002819 decidua serotina testis (...) while it is likely that Urbilateria lacked a complex somatic reproductive system, it is at present impossible to speculate on whether or not it possessed a true gonad, let alone any other somatic adaptations for reproduction (reference 1); Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved (reference 2).[uncertain][VHOG] AAO:0000606 BILA:0000124 BTO:0001363 CALOHA:TS-1030 EFO:0000984 EHDAA2:0002007 EHDAA:8146 EMAPA:17972 EV:0100102 Either of paired male reproductive organs which are involved in the production of sperm and male sex hormones.[AAO] FBbt:00004928 FMA:7210 GAID:396 HAO:0001007 MA:0000411 MAT:0000132 MESH:A05.360.444.849 MIAA:0000132 Male reproductive organ.[TAO] OpenCyc:Mx4rvVjM25wpEbGdrcN5Y29ycA SCTID:181431007 TAO:0000598 The testes are descended in metatherian and eutherian mammals. UBERON:0000473 UBERON:0002117 UMLS:C0039597 VHOG:0000252 WBbt:0006794 Wikipedia:Testis XAO:0000157 ZFA:0000598 galen:Testis genitalia of male organism gonad genitalia of male organism gonada gonad of a male animal, produces and releases sperm. gonad of genitalia of male organism gonad of male genitalia gonad of male genitals gonad of male organism genitalia gonad of male organism reproductive system gonad of male reproductive system gonad of reproductive system of male organism gonada of genitalia of male organism gonada of male genitalia gonada of male genitals gonada of male organism genitalia gonada of male organism reproductive system gonada of male reproductive system gonada of reproductive system of male organism http://upload.wikimedia.org/wikipedia/commons/thumb/c/c3/Gray1144.png/200px-Gray1144.png male genitalia gonad male genitalia gonada male genitals gonad male gonad male organism genitalia gonad male organism genitalia gonada male organism reproductive system gonad male organism reproductive system gonada male reproductive system gonad male reproductive system gonada ncithesaurus:Testis orchis reproductive system of male organism gonad reproductive system of male organism gonada testes testicle testicular testiculus uberon 2012-08-14 Male reproductive organ.[TAO] TAO TAO:0000598 ZFIN:curator OBOL:automatic gonada of male genitalia OBOL:automatic gonada of male genitals OBOL:automatic gonada of male organism reproductive system OBOL:automatic reproductive system of male organism gonad OBOL:automatic gonad of male reproductive system FMA:7210 testicle OBOL:automatic gonada of male organism genitalia VHOG:0000252 OBOL:automatic male reproductive system gonada testes OBOL:automatic male gonad (...) while it is likely that Urbilateria lacked a complex somatic reproductive system, it is at present impossible to speculate on whether or not it possessed a true gonad, let alone any other somatic adaptations for reproduction (reference 1); Examination of different vertebrate species shows that the adult gonad is remarkably similar in its morphology across different phylogenetic classes. Surprisingly, however, the cellular and molecular programs employed to create similar organs are not evolutionarily conserved (reference 2).[uncertain][VHOG] 2012-09-17 DOI:10.1093/icb/icm052 Extavour CGM, Gray anatomy: phylogenetic patterns of somatic gonad structures and reproductive strategies across the Bilateria. Integrative and Comparative Biology (2007), DOI:10.1146/annurev.cellbio.042308.13350 DeFalco T and Capel B, Gonad morphogenesis in vertebrates: divergent means to a convergent end. Annual review of cell and developmental biology (2009) VHOG VHOG:0000252 http://bgee.unil.ch/ OBOL:automatic reproductive system of male organism gonada OBOL:automatic gonad of genitalia of male organism OBOL:automatic male genitalia gonad OBOL:automatic male organism genitalia gonad OBOL:automatic genitalia of male organism gonada OBOL:automatic male genitalia gonada OBOL:automatic male organism reproductive system gonad OBOL:automatic gonada of male reproductive system OBOL:automatic male reproductive system gonad OBOL:automatic male organism genitalia gonada OBOL:automatic male organism reproductive system gonada OBOL:automatic genitalia of male organism gonad OBOL:automatic gonad of male genitals OBOL:automatic male genitals gonad OBOL:automatic gonada of genitalia of male organism NCBITaxon:40674 The testes are descended in metatherian and eutherian mammals. cjm Wikipedia:Testis gonad of a male animal, produces and releases sperm. OBOL:automatic gonad of male genitalia OBOL:automatic gonad of male organism genitalia OBOL:automatic gonad of male organism reproductive system BTO:0001363 testiculus OBOL:automatic gonada of reproductive system of male organism BTO:0001363 orchis 2012-06-20 AAO AAO:0000606 AAO:BJB Either of paired male reproductive organs which are involved in the production of sperm and male sex hormones.[AAO] OBOL:automatic gonad of reproductive system of male organism female reproductive system BTO:0000083 By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG] CALOHA:TS-1303 EFO:0000969 EHDAA2:0000506 EHDAA:8116 EMAPA:17959 EV:0100110 FBbt:00004864 FMA:45663 GAID:364 HAO:0000324 MA:0000381 MESH:A05.360.319 MIAA:0000028 OpenCyc:Mx4rvVipTZwpEbGdrcN5Y29ycA SCTID:361386004 TGMA:0000635 The organs of the female reproductive system. UBERON:0000474 UMLS:C0700038 VHOG:0000726 WBbt:0006748 Wikipedia:Female_genitalia WikipediaCategory:Female_reproductive_system XAO:0000156 female genital system female genitalia female organism genitalia female organism reproductive system female reproductive tract genitalia of female organism gynaecological tissue http://upload.wikimedia.org/wikipedia/commons/thumb/6/68/Scheme_female_reproductive_system-en.svg/200px-Scheme_female_reproductive_system-en.svg.png ncithesaurus:Female_Reproductive_System reproductive system of female organism systema genitale femininum uberon VHOG:0000726 2012-09-17 By far, sexual reproduction is the more common pattern among living vertebrate forms and its widespread occurrence suggests that it is the plesiomorphic, or primitive, reproductive mode among the vertebrates.[well established][VHOG] ISBN:978-0792383369 Lombardi J, Comparative vertebrate reproduction (1998) p.43 VHOG VHOG:0000726 http://bgee.unil.ch/ The organs of the female reproductive system. Wikipedia:Female_genitalia BTO:0000083 gynaecological tissue MA:0000381 female reproductive tract BTO:0000083 systema genitale femininum OBOL:automatic genitalia of female organism OBOL:automatic female organism genitalia OBOL:automatic female organism reproductive system OBOL:automatic reproductive system of female organism abdomen BTO:0000020 CALOHA:TS-0001 EFO:0000968 EV:0100011 FMA:9577 GAID:16 In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity. MA:0000029 MAT:0000298 MESH:A01.047 MIAA:0000298 OpenCyc:Mx4rvVjgyZwpEbGdrcN5Y29ycA SCTID:302553009 Taxon notes: Vertebrate specific. In arthropods 'abdomen' is the most distal section of the body which lies behind the thorax or cephalothorax. If need be we can introduce some grouping class UBERON:0000916 Wikipedia:Abdomen abdominal abdominopelvic region abdominopelvis adult abdomen belly celiac region galen:Abdomen uberon FMA:9577 abdominopelvis In vertebrates such as mammals the abdomen (belly) constitutes the part of the body between the thorax (chest) and pelvis. The region enclosed by the abdomen is termed the abdominal cavity. Wikipedia:Abdomen FMA:9577 abdominopelvic region embryo AAO:0011035 AEO:0000169 Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. BILA:0000056 BTO:0000379 CALOHA:TS-0229 EFO:0001367 EHDAA2:0000002 EHDAA2_RETIRED:0003236 EHDAA:38 EMAPA:16039 FBbt:00000052 FMA:69068 GAID:963 MAT:0000226 MESH:A16.254 MIAA:0000019 OGEM:000001 Obsoleted in ZFA. Note that embryo is not classified as an embryonic structure - an embryonic structure is only the parts of an embryo OpenCyc:Mx4rwP1ceZwpEbGdrcN5Y29ycA SCTID:57991002 UBERON:0000922 UMLS:C0013935 VHOG:0001766 Wikipedia:Embryo XAO:0000113 ZFA:0000103 developing organism developmental tissue embryonic embryonic organism http://neurolex.org/wiki/Category:Embryonic_organism http://upload.wikimedia.org/wikipedia/commons/2/2d/Wrinkledfrog_embryos.jpg ncithesaurus:Embryo uberon VHOG:0001766 BILA:0000056 developing organism BILA:0000056 embryonic organism Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. BTO:0000379 FB:FBrf0039741 FB:FBrf0041814 GO:0009790 Wikipedia:Embryo ectoderm AAO:0000137 BILA:0000036 BTO:0000315 CALOHA:TS-0216 EFO:0000414 EHDAA2:0000428 EMAPA:16069 EV:0100003 FBbt:00000111 FMA:69070 GAID:1304 MAT:0000155 MAT:0000173 MESH:A16.254.425.273 MIAA:0000173 Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. Primary germ layer that is the outer of the embryonic germ layers and gives rise to epidermis and neural tissue.[AAO] SCTID:362851007 TAO:0000016 The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] UBERON:0000924 UMLS:C0013574 VHOG:0000153 Wikipedia:Ectoderm XAO:0000001 ZFA:0000016 ectodermal embryonic ectoderm http://upload.wikimedia.org/wikipedia/commons/1/19/Gray32.png ncithesaurus:Ectoderm uberon VHOG:0000153 embryonic ectoderm 2012-09-17 ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) Limb development and evolution, p.722 The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] VHOG VHOG:0000153 http://bgee.unil.ch/ Primary germ layer that is the outer of the embryo's three germ layers and gives rise to epidermis and neural tissue. Wikipedia:Ectoderm cjm 2012-06-20 AAO AAO:0000137 AAO:EJS Primary germ layer that is the outer of the embryonic germ layers and gives rise to epidermis and neural tissue.[AAO] VHOG:0000153 endoderm AAO:0000139 BILA:0000038 BTO:0000800 CALOHA:TS-0273 EFO:0002545 EHDAA2:0000436 EV:0100005 FBbt:00000125 FMA:69071 GAID:1305 MAT:0000175 MESH:A16.254.425.407 MIAA:0000175 Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. SCTID:362855003 TAO:0000017 The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] This class was created automatically from a combination of ontologies UBERON:0000925 UMLS:C0014144 VHOG:0000154 Wikipedia:Endoderm XAO:0000090 ZFA:0000017 endodermal entoderm http://upload.wikimedia.org/wikipedia/commons/c/c0/Endoderm2.png http://upload.wikimedia.org/wikipedia/commons/thumb/d/df/Gray10.png/200px-Gray10.png ncithesaurus:Endoderm uberon 2012-09-17 ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) Limb development and evolution, p.722 The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] VHOG VHOG:0000154 http://bgee.unil.ch/ ZFA Primary germ layer that lies remote from the surface of the embryo and gives rise to internal tissues such as gut. Wikipedia:Endoderm VHOG:0000154 mesoderm AAO:0000304 BILA:0000037 BTO:0000839 CALOHA:TS-0623 EFO:0001981 EHDAA2:0001128 EHDAA:124 EHDAA:160 EHDAA:168 EHDAA:183 EMAPA:16083 EV:0100006 FBbt:00000126 FMA:69072 GAID:522 MAT:0000174 MESH:A16.254.425.660 MIAA:0000174 Primary germ layer that is the middle of the embryonic germ layers.[AAO] SCTID:362854004 TAO:0000041 Taxon notes: sponges do not seem to have a mesoderm and accordingly Amphimedon lacks transcription factors involved in mesoderm development (Fkh, Gsc, Twist, Snail)[http://www.nature.com/nature/journal/v466/n7307/full/nature09201.html]. Mesoderm may not be homologous across verteberates[UBERONREF:0000002] The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] The middle germ layer of the embryo, between the endoderm and ectoderm. UBERON:0000926 UBERON:0003263 UMLS:C0025485 VHOG:0000152 Wikipedia:Mesoderm XAO:0000050 ZFA:0000041 embryonic mesoderm entire mesoderm http://upload.wikimedia.org/wikipedia/commons/e/e8/Mesoderm.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/e8/Mesoderm.png/200px-Mesoderm.png mesodermal mesodermal mantle ncithesaurus:Mesoderm uberon The middle germ layer of the embryo, between the endoderm and ectoderm. Wikipedia:Mesoderm 2012-06-20 AAO AAO:0000304 AAO:EJS Primary germ layer that is the middle of the embryonic germ layers.[AAO] 2012-09-17 ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) Limb development and evolution, p.722 The Bilateria are triploblastic (with true endoderm, mesoderm, and ectoderm) (...).[well established][VHOG] VHOG VHOG:0000152 http://bgee.unil.ch/ VHOG:0000152 embryonic mesoderm VHOG:0000152 ZFA SCTID:362854004 entire mesoderm https://orcid.org/0000-0002-6601-2165 mesectoderm A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm. EFO:0003336 FBbt:00000136 MAT:0000243 MIAA:0000243 MesEc Split term? The part of the mesenchyme derived from ectoderm, especially from the embryonic neural crest from which the pigment cells, meninges, and most of the branchial cartilages develop.[TFD] UBERON:0000927 mesectodermal uberon A double row of cells which are located at the midline from the end of gastrulations. The morphology of these cells is distinct from adjacent ectodermal cells - they are elongated such that one end remains exposed to the outside of the embryo at the mideline while the other end bissects the internalised mesoderm. FB:FBrf0089570 ventral nerve cord BTO:0002328 EFO:0000896 FBbt:00001102 MAT:0000339 MIAA:0000339 The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)[BTO]. A large process bundle that runs along the vental mid-line extending from the ventral region of the nerve ring[WB]. The ventral cord is one of the distinguishing traits of the central nervous system of all arthropods (such as insects, crustaceans and arachnids) as well as many other invertebrates, such as the annelid worms[GO]. The ventral nerve cords make up the nervous system of some phyla of the invertebrates, particularly within the nematodes, annelids and the arthropods. It usually consists of cerebral ganglia anteriorly with the nerve cords running down the ventral ('belly', as opposed to back) plane of the organism. This characteristic is important in qualifying the difference compared to the chordates, which have a dorsal nerve cord. Ventral nerve cords from anterior to posterior (the thoracic and abdominal tagma in the arthropods) are made up of segmented ganglia that are connected by a tract of nerve fibers passing from one side to the other of the nerve cord called commissures. The complete system bears some likeness to a rope ladder. In some animals the bilateral ganglia are fused into a single large ganglion per segment. This characteristic is found mostly in the insects. UBERON:0000934 WBbt:0005829 Wikipedia:Ventral_nerve_cord uberon ventral cord BTO:0002328 GO:0007419 The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms)[BTO]. A large process bundle that runs along the vental mid-line extending from the ventral region of the nerve ring[WB]. The ventral cord is one of the distinguishing traits of the central nervous system of all arthropods (such as insects, crustaceans and arachnids) as well as many other invertebrates, such as the annelid worms[GO]. WB:Paper00000938 Wikipedia:Ventral_nerve_cord GO:0007419 ventral cord stomach AAO:0000579 ANISEED:1235297 An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. BTO:0001307 CALOHA:TS-0980 EFO:0000837 EHDAA2:0001915 EHDAA:2993 EMAPA:17021 EMAPA:18889 EV:0100070 FMA:7148 GAID:293 It appears that the stomach has an ancient origin. The stomach first appears in the fish lineage. The prevertebrate chordates do not have a true stomach, whereas the cartilaginous and bony fish do. Although most fish do have a true stomach, some fish species appear to have lost the stomach secondarily. The remaining vertebrate lineages do have a true stomach (at least in the adult animal), although there is great variation in the size and shape of the stomach.[well established][VHOG] MA:0000353 MAT:0000051 MESH:A03.492.766 MIAA:0000051 OpenCyc:Mx4rvVjlqpwpEbGdrcN5Y29ycA Portion of alimentary canal with increased circular and longitudinal smooth muscle. Bounded posteriorly by the pyloric sphincter. Mucosal lining has increased folding.[AAO] SCTID:181246003 TAO:0002121 Taxon notes: We restrict this to the vertebrate specific structure - see the grouping class 'food storage organ' for analogous structures in other species. Teleosts: Zebrafish is functionally stomach-less, but may retain ontogenic footprint. Although the precise shape and size of the stomach varies widely among different vertebrates, the relative positions of the oesophageal and duodenal openings remain relatively constant. As a result, the organ always curves somewhat to the left before curving back to meet the pyloric sphincter. However, lampreys, hagfishes, chimaeras, lungfishes, and some teleost fish have no stomach at all, with the oesophagus opening directly into the intestine. The gastric lining is usually divided into two regions, an anterior portion lined by fundic glands, and a posterior with pyloric glands. Cardiac glands are unique to mammals, and even then are absent in a number of species. The distributions of these glands vary between species, and do not always correspond with the same regions as in man. Furthermore, in many non-human mammals, a portion of the stomach anterior to the cardiac glands is lined with epithelium essentially identical to that of the oesophagus. Ruminants, in particular, have a complex stomach, the first three chambers of which are all lined with oesophageal mucosa -- Stomach#In_other_animals UBERON:0000945 UMLS:C0038351 VHOG:0000408 Ventricular Wikipedia:Stomach XAO:0000128 anterior intestine galen:Stomach gaster http://upload.wikimedia.org/wikipedia/commons/e/e0/Stomach_diagram.svg http://upload.wikimedia.org/wikipedia/commons/thumb/e/e0/Stomach_diagram.svg/200px-Stomach_diagram.svg.png mesenteron ncithesaurus:Stomach stomach chamber uberon ventriculus 2012-09-17 DOI:10.1046/j.1525-142x.2000.00076.x Smith DM, Grasty RC, Theodosiou NA, Tabin CJ, Nascone-Yoder NM, Evolutionary relationships between the amphibian, avian, and mammalian stomachs. Evolution and development (2000) It appears that the stomach has an ancient origin. The stomach first appears in the fish lineage. The prevertebrate chordates do not have a true stomach, whereas the cartilaginous and bony fish do. Although most fish do have a true stomach, some fish species appear to have lost the stomach secondarily. The remaining vertebrate lineages do have a true stomach (at least in the adult animal), although there is great variation in the size and shape of the stomach.[well established][VHOG] VHOG VHOG:0000408 http://bgee.unil.ch/ BTO:0001307 gaster Ventricular Wikipedia:Stomach 2012-06-20 AAO AAO:0000579 AAO:EJS Portion of alimentary canal with increased circular and longitudinal smooth muscle. Bounded posteriorly by the pyloric sphincter. Mucosal lining has increased folding.[AAO] An expanded region of the vertebrate alimentary tract that serves as a food storage compartment and digestive organ. A stomach is lined, in whole or in part by a glandular epithelium. ISBN10:0073040584 Wikipedia:Stomach https://orcid.org/0000-0002-6601-2165 ZFA VHOG:0000408 aorta AAO:0010213 Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation BTO:0000135 CALOHA:TS-0046 EFO:0000265 EMAPA:18601 EV:0100027 Editor notes: This class is currently a mixed bag, encompassing (1) the entirety of the mammalian aorta together with (2) the developmental and phylogenetic homologs of its segments: the ventral aorta and dorsal aortae. Taxon notes: All amniotes have a broadly similar arrangement to that of humans, albeit with a number of individual variations. In fish, however, there are two separate vessels referred to as aortas. The ventral aorta carries de-oxygenated blood from the heart to the gills; part of this vessel forms the ascending aorta in tetrapods (the remainder forms the pulmonary artery). A second, dorsal aorta carries oxygenated blood from the gills to the rest of the body, and is homologous with the descending aorta of tetrapods. The two aortas are connected by a number of vessels, one passing through each of the gills. Amphibians also retain the fifth connecting vessel, so that the aorta has two parallel arches[WP]. FMA:3734 GAID:469 MA:0000062 MAT:0000035 MESH:A07.231.114.056 MIAA:0000035 OpenCyc:Mx4rvVjvTpwpEbGdrcN5Y29ycA SCTID:181298001 The main artery of the circulatory system which carries oxygenated blood from the heart to all the arteries of the body except those of the lungs.[AAO] UBERON:0000947 UMLS:C0003483 VHOG:0001523 When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG] Wikipedia:Aorta XAO:0003010 aortic arteria maxima dorsal aorta galen:Aorta http://upload.wikimedia.org/wikipedia/commons/9/91/Aorta_scheme.jpg ncithesaurus:Aorta trunk of aortic tree trunk of systemic arterial tree uberon VHOG:0001523 Wikipedia:Aorta arteria maxima 2012-06-20 AAO AAO:0010213 AAO:BJB The main artery of the circulatory system which carries oxygenated blood from the heart to all the arteries of the body except those of the lungs.[AAO] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620 VHOG VHOG:0001523 When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG] http://bgee.unil.ch/ Artery carrying blood from the heart to all the organs and other structures of the body, bringing oxygenated blood to all parts of the body in the systemic circulation Wikipedia:Aorta Wikipedia:Aorta#In_other_animals ZFA:0000014 dorsal aorta heart AAO:0010210 As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[well established][VHOG] BILA:0000020 BTO:0000562 Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[TAO] CALOHA:TS-0445 EFO:0000815 EHDAA2:0000738 EHDAA:420 EMAPA:16105 EV:0100018 FMA:7088 GAID:174 Herz MA:0000072 MAT:0000036 MESH:A07.541 MIAA:0000036 OpenCyc:Mx4rvVjvDpwpEbGdrcN5Y29ycA Part of the circulatory system responsible for pumping blood; composed of three chambers--two atria and one ventricle.[AAO] SCTID:302509004 TAO:0000114 UBERON:0000948 UMLS:C0018787 VHOG:0000276 Wikipedia:Heart XAO:0000064 ZFA:0000114 a myogenic muscular organ found in the cardiovascular system. It is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions. The vertebrate heart is composed of cardiac muscle, which is an involuntary striated muscle tissue found only in this organ, and connective tissue. Primitive fish have a four-chambered heart; however, the chambers are arranged sequentially so that this primitive heart is quite unlike the four-chambered hearts of mammals and birds. The first chamber is the sinus venosus, which collects de-oxygenated blood, from the body, through the hepatic and cardinal veins. From here, blood flows into the atrium and then to the powerful muscular ventricle where the main pumping action takes place. The fourth and final chamber is the conus arteriosus which contains several valves and sends blood to the ventral aorta. The ventral aorta delivers blood to the gills where it is oxygenated and flows, through the dorsal aorta, into the rest of the body. (In tetrapods, the ventral aorta has divided in two; one half forms the ascending aorta, while the other forms the pulmonary artery. In the adult fish, the four chambers are not arranged in a straight row but, instead, form an S-shape with the latter two chambers lying above the former two. This relatively simpler pattern is found in cartilaginous fish and in the more primitive ray-finned fish. In teleosts, the conus arteriosus is very small and can more accurately be described as part of the aorta rather than of the heart proper. The conus arteriosus is not present in any amniotes which presumably having been absorbed into the ventricles over the course of evolution. Similarly, while the sinus venosus is present as a vestigial structure in some reptiles and birds, it is otherwise absorbed into the right atrium and is no longer distinguishable[WP]. branchial heart cardiac chambered heart galen:Heart ncithesaurus:Heart note that we use the term 'circulatory organ' for the generic class. Taxon notes:" the ascidian tube-like heart lacks chambers....The ascidian heart is formed after metamorphosis as a simple tube-like structure with a single-layered myoepi- thelium that is continuous with a single-layered pericar- dial wall. It lacks chambers and endocardium.... The innovation of the chambered heart was a key event in vertebrate evolution, because the chambered heart generates one-way blood flow with high pressure, a critical requirement for the efficient blood supply of large-body vertebrates... all extant vertebrates have hearts with two or more chambers (Moorman and Christoffels 2003)" doi:10.1101/gad.1485706 relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO] uberon vertebrate heart Wikipedia:Heart a myogenic muscular organ found in the cardiovascular system. It is responsible for pumping blood throughout the blood vessels by repeated, rhythmic contractions. The vertebrate heart is composed of cardiac muscle, which is an involuntary striated muscle tissue found only in this organ, and connective tissue. Primitive fish have a four-chambered heart; however, the chambers are arranged sequentially so that this primitive heart is quite unlike the four-chambered hearts of mammals and birds. The first chamber is the sinus venosus, which collects de-oxygenated blood, from the body, through the hepatic and cardinal veins. From here, blood flows into the atrium and then to the powerful muscular ventricle where the main pumping action takes place. The fourth and final chamber is the conus arteriosus which contains several valves and sends blood to the ventral aorta. The ventral aorta delivers blood to the gills where it is oxygenated and flows, through the dorsal aorta, into the rest of the body. (In tetrapods, the ventral aorta has divided in two; one half forms the ascending aorta, while the other forms the pulmonary artery. In the adult fish, the four chambers are not arranged in a straight row but, instead, form an S-shape with the latter two chambers lying above the former two. This relatively simpler pattern is found in cartilaginous fish and in the more primitive ray-finned fish. In teleosts, the conus arteriosus is very small and can more accurately be described as part of the aorta rather than of the heart proper. The conus arteriosus is not present in any amniotes which presumably having been absorbed into the ventricles over the course of evolution. Similarly, while the sinus venosus is present as a vestigial structure in some reptiles and birds, it is otherwise absorbed into the right atrium and is no longer distinguishable[WP]. 2012-06-20 AAO AAO:0010210 relationship type change: differentiates_from lateral plate mesoderm (AAO:0010574) CHANGED TO: develops_from lateral plate mesoderm (UBERON:0003081)[AAO] VHOG:0000276 2012-06-20 AAO AAO:0010210 AAO:BJB Part of the circulatory system responsible for pumping blood; composed of three chambers--two atria and one ventricle.[AAO] chambered heart https://orcid.org/0000-0002-6601-2165 2012-09-17 As noted, the hearts of birds and mammals have four chambers that arises from the two chambers (atrium and ventricle) of the fish heart.[well established][VHOG] ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.481 VHOG VHOG:0000276 http://bgee.unil.ch/ 2012-08-14 Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[TAO] TAO TAO:0000114 ZFIN:curator BTO:0000562 Herz branchial heart endocrine system AAO:0010279 Anatomical system containing glands which regulates bodily functions though the secretion of hormones.[AAO] Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. CALOHA:TS-1301 EFO:0002969 EHDAA2:0002224 EV:0100128 FBbt:00005068 FMA:9668 GAID:439 MA:0000012 MESH:A06 Multicellular organisms have complex endocrine systems, allowing responses to environmental stimuli, regulation of development, reproduction, and homeostasis. Nuclear receptors (NRs), a metazoan-specific family of ligand-activated transcription factors, play central roles in endocrine responses, as intermediates between signaling molecules and target genes. The NR family includes ligand-bound and orphan receptors, that is, receptors with no known ligand or for which there is no ligand Pocket. Understanding NR evolution has been further improved by comparison of several completed genomes, particularly those of deuterostomes and ecdysozoans. In contrast, evolution of NR ligands is still much debated. One hypothesis proposes that several independent gains and losses of ligand-binding ability in NRs occurred in protostomes and deuterostomes. A second hypothesis, pertaining to the NR3 subfamily (vertebrate steroid hormone receptors and estrogen related receptor), proposes that before the divergence of protostomes and deuterostomes, there was an ancestral steroid receptor (AncSR) that was ligand-activated and that orphan receptors secondarily lost the ability to bind a ligand. (...) Our analysis reveals that steroidogenesis has been independently elaborated in the 3 main bilaterian lineages (...).[well established][VHOG] SCTID:278876000 TAO:0001158 UBERON:0000949 UMLS:C0014136 VHOG:0000098 Wikipedia:Endocrine_system XAO:0000158 ZFA:0001158 endocrine endocrine glandular system endocrine system ncithesaurus:Endocrine_System systema endocrinum uberon 2012-09-17 DOI:10.1073/pnas.0812138106 Markov GV, Tavares R, Dauphin-Villemant C, Demeneix BA, Baker ME, Laudet V, Independent elaboration of steroid hormone signaling pathways in metazoans. PNAS (2009) Multicellular organisms have complex endocrine systems, allowing responses to environmental stimuli, regulation of development, reproduction, and homeostasis. Nuclear receptors (NRs), a metazoan-specific family of ligand-activated transcription factors, play central roles in endocrine responses, as intermediates between signaling molecules and target genes. The NR family includes ligand-bound and orphan receptors, that is, receptors with no known ligand or for which there is no ligand Pocket. Understanding NR evolution has been further improved by comparison of several completed genomes, particularly those of deuterostomes and ecdysozoans. In contrast, evolution of NR ligands is still much debated. One hypothesis proposes that several independent gains and losses of ligand-binding ability in NRs occurred in protostomes and deuterostomes. A second hypothesis, pertaining to the NR3 subfamily (vertebrate steroid hormone receptors and estrogen related receptor), proposes that before the divergence of protostomes and deuterostomes, there was an ancestral steroid receptor (AncSR) that was ligand-activated and that orphan receptors secondarily lost the ability to bind a ligand. (...) Our analysis reveals that steroidogenesis has been independently elaborated in the 3 main bilaterian lineages (...).[well established][VHOG] VHOG VHOG:0000098 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010279 AAO:BJB Anatomical system containing glands which regulates bodily functions though the secretion of hormones.[AAO] VHOG:0000098 Anatomical system that consists of the glands and parts of glands that produce endocrine secretions and help to integrate and control bodily metabolic activity. NLM:endocrine+system Wikipedia:Endocrine_system EHDAA2:0002224 endocrine glandular system brain (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG] AAO:0010478 ABA:Brain BILA:0000135 BTO:0000142 CALOHA:TS-0095 Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[TAO] EFO:0000302 EHDAA2:0000183 EHDAA:2641 EHDAA:6485 EMAPA:16894 EV:0100164 FBbt:00005095 FMA:50801 GAID:571 MA:0000168 MAT:0000098 MESH:A08.186.211 MIAA:0000098 NIF_GrossAnatomy:birnlex_796 OpenCyc:Mx4rvVjT65wpEbGdrcN5Y29ycA Part of the central nervous system situated within the cranium and composed of both nerve cell bodies and nerve fibers.[AAO] SCTID:258335003 TAO:0000008 The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. UBERON:0000955 UMLS:C0006104 VHOG:0000157 Wikipedia:Brain XAO:0000010 ZFA:0000008 encephalon galen:Brain include synganglion? ncithesaurus:Brain synganglion uberon FMA (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165 VHOG VHOG:0000157 http://bgee.unil.ch/ BTO:0000142 encephalon The brain is the center of the nervous system in all vertebrate, and most invertebrate, animals.[1] Some primitive animals such as jellyfish and starfish have a decentralized nervous system without a brain, while sponges lack any nervous system at all. In vertebrates, the brain is located in the head, protected by the skull and close to the primary sensory apparatus of vision, hearing, balance, taste, and smell[WP]. Wikipedia:Brain 2012-06-20 AAO AAO:0010478 AAO:BJB Part of the central nervous system situated within the cranium and composed of both nerve cell bodies and nerve fibers.[AAO] 2012-08-14 Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[TAO] TAO TAO:0000008 ZFIN:curator VHOG:0000157 cerebral cortex ABA:CTX BM:Tel-Cx BTO:0000233 CALOHA:TS-0091 EFO:0000328 EHDAA2:0000234 EHDAA:5464 EMAPA:17544 EV:0100166 FMA:61830 GAID:629 MA:0000185 MAT:0000108 MESH:A08.186.211.730.885.213 MIAA:0000108 Migration of neurons from the basal or striatal portions of the anterior part of the neural tube occurs to varying degrees in different vertebrate classes, but a true cerebral cortex is generally acknowledged to have made its first appearance in reptiles. The definition can be unambiguous, since 'cortex' simply implies the existence of a surface neuronal layer with an overlying 'zonal lamina' or 'molecular' layer containing dendrites and axons, which is separated from the underlying basal 'matrix' by white matter. Although reptilian cerebral cortex does indeed fulfill these conditions in certain locations, the separation from striatal structures is often indistinct, so that it may even be argued that some primitive dipnoans possess a pallium or cortex. Nevertheless, an extensive laminated layer separated by underlying white matter is well represented only in reptiles and mammals.[well established][VHOG] NIF_GrossAnatomy:birnlex_1494 SCTID:362880003 The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 2–4 mm (0.08–0.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0000956 UMLS:C0007776 VHOG:0000722 Wikipedia:Cerebral_cortex brain cortex cortex cerebri cortex of cerebral hemisphere http://upload.wikimedia.org/wikipedia/commons/9/9a/Brainmaps-macaque-hippocampus.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/7/7b/Cerebral_Cortex_location.jpg/200px-Cerebral_Cortex_location.jpg ncithesaurus:Cortex pallium of the brain uberon The cerebral cortex is a structure within the brain that plays a key role in memory, attention, perceptual awareness, thought, language, and consciousness. It constitutes the outermost layer of the cerebrum. In preserved brains, it has a grey color, hence the name 'grey matter'. Grey matter is formed by neurons and their unmyelinated fibers, whereas the white matter below the grey matter of the cortex is formed predominantly by myelinated axons interconnecting different regions of the central nervous system. The human cerebral cortex is 2–4 mm (0.08–0.16 inches) thick. The surface of the cerebral cortex is folded in large mammals, such that more than two-thirds of the cortical surface is buried in the grooves, called 'sulci. ' The phylogenetically most recent part of the cerebral cortex, the neocortex, also called isocortex, is differentiated into six horizontal layers; the more ancient part of the cerebral cortex, the hippocampus (also called archicortex), has at most three cellular layers, and is divided into subfields. Relative variations in thickness or cell type (among other parameters) allow us to distinguish between different neocortical architectonic fields. The geometry of at least some of these fields seems to be related to the anatomy of the cortical folds, and, for example, layers in the upper part of the cortical ridges seem to be more clearly differentiated than in its deeper parts. [WP,unvetted]. Wikipedia:Cerebral_cortex BTO:0000233 pallium of the brain Wikipedia:Cerebral_cortex cortex cerebri VHOG:0000722 BTO:0000233 brain cortex 2012-09-17 DOI:10.1111/j.1749-6632.1969.tb20437.x Kruger L, Experimental analyses of the reptilian nervous system. Annals of the New York Academy of Sciences (1969) Migration of neurons from the basal or striatal portions of the anterior part of the neural tube occurs to varying degrees in different vertebrate classes, but a true cerebral cortex is generally acknowledged to have made its first appearance in reptiles. The definition can be unambiguous, since 'cortex' simply implies the existence of a surface neuronal layer with an overlying 'zonal lamina' or 'molecular' layer containing dendrites and axons, which is separated from the underlying basal 'matrix' by white matter. Although reptilian cerebral cortex does indeed fulfill these conditions in certain locations, the separation from striatal structures is often indistinct, so that it may even be argued that some primitive dipnoans possess a pallium or cortex. Nevertheless, an extensive laminated layer separated by underlying white matter is well represented only in reptiles and mammals.[well established][VHOG] VHOG VHOG:0000722 http://bgee.unil.ch/ cornea AAO:0010344 BTO:0000286 CALOHA:TS-0171 EFO:0000377 EHDAA2:0000316 EHDAA:10199 EMAPA:17161 EV:0100341 FMA:58238 GAID:892 MA:0000266 MESH:A09.371.060.217 OpenCyc:Mx4rvViBa5wpEbGdrcN5Y29ycA SCTID:181162001 TAO:0000640 Taxon notes: Compared to terrestial animals, the cornea [of zebrafish] is relatively flat. It consists of nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman’s membrane in mammals UBERON:0000964 UMLS:C0010031 VHOG:0000164 Wikipedia:Cornea XAO:0000180 ZFA:0000640 cornea of camera-type eye corneal http://upload.wikimedia.org/wikipedia/commons/1/1e/Schematic_diagram_of_the_human_eye_en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/1/1e/Schematic_diagram_of_the_human_eye_en.svg/200px-Schematic_diagram_of_the_human_eye_en.svg.png ncithesaurus:Cornea transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power. tunica cornea uberon VHOG:0000164 GO:0061303 cornea of camera-type eye Wikipedia:Cornea transparent front part of the eye that covers the iris, pupil, and anterior chamber. Together with the lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power. lens of camera-type eye AAO:0010348 BTO:0000723 CALOHA:TS-0545 EHDAA:9057 EMAPA:17838 EV:0100343 FMA:58241 MA:0000275 MAT:0000141 MESH:A09.371.509 MIAA:0000141 OpenCyc:Mx4rvVj0fZwpEbGdrcN5Y29ycA RETIRED_EHDAA2:0000975 SCTID:181169005 TAO:0000035 Taxon notes: This class excludes compound eye corneal lenses. The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] Transparent part of camera-type eye that helps to refract light to be focused on the retina. UBERON:0000965 UMLS:C0023317 VHOG:0000169 Wikipedia:Lens_(anatomy) XAO:0000008 ZFA:0000035 camera-type eye lens crystalline lens eye lens http://purl.obolibrary.org/obo/uberon.owl lens lens crystallina ncithesaurus:Crystalline_Lens ocular lens uberon retina AAO:0010352 BTO:0001175 CALOHA:TS-0865 Currently this class encompasses only verteberate AOs but could in theory also include cephalopod - we may want to make a more specific class for vertebrate retina. note that this class excludes ommatidial retinas, as the retina must be part of an eyeball. Use the parent class photoreceptor array / light-sensitive tissue for arthropods EFO:0000832 EHDAA2:0001627 EHDAA:4757 EMAPA:17168 EV:0100348 FMA:58301 GAID:755 MA:0000276 MAT:0000142 MESH:A09.371.729 MIAA:0000142 NIF_GrossAnatomy:birnlex_1153 NIF_GrossAnatomy_RETIRED:birnlex_1156 Netzhaut OpenCyc:Mx4rvViTfpwpEbGdrcN5Y29ycA SCTID:181171005 TAO:0000152 The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.[TAO] The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. UBERON:0000966 UMLS:C0035298 VHOG:0000229 Wikipedia:Retina XAO:0000009 ZFA:0000152 http://upload.wikimedia.org/wikipedia/commons/e/ed/Human_eye_cross-sectional_view_grayscale.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/ed/Human_eye_cross-sectional_view_grayscale.png/200px-Human_eye_cross-sectional_view_grayscale.png inner layer of eyeball ncithesaurus:Retina retina of camera-type eye retinal tunica interna of eyeball uberon 2012-09-17 DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007) The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] VHOG VHOG:0000229 http://bgee.unil.ch/ GO:0060041 retina of camera-type eye BTO:0001175 Netzhaut 2012-08-14 TAO TAO:0000152 The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.[TAO] ZFIN:curator VHOG:0000229 The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates. Wikipedia:Retina ZFIN:curator eye An organ that detects light. BILA:0000017 BTO:0000439 CALOHA:TS-0309 EFO:0000827 EV:0100336 FBbt:00005162 GAID:69 MAT:0000140 MESH:A01.456.505.420 MIAA:0000140 OpenCyc:Mx4rvViTvpwpEbGdrcN5Y29ycA UBERON:0000970 Usage notes: This class encompasses a variety of light-detecting structures from different phyla with no implication of homology, from the compound insect eye to the vertebrate camera-type eye (distinct classes are provided for each). Structure notes: Note that whilst this is classified as an organ, it is in fact more of a unit composed of different structures: in Drosophila, it includes the interommatidial bristle as a part; we consider here the vertebrate eye to include the eyeball/eye proper as a part, with the eye having as parts (when present): eyelids, conjuctiva, Wikipedia:Eye light-detecting organ ocular optic photoreceptor uberon visual apparatus An organ that detects light. https://orcid.org/0000-0002-6601-2165 EV:0100336 visual apparatus antenna AEO:0000198 BTO:0000074 EFO:0000874 Editor notes: this term should be ceded to the arthropod anatomy ontology FBbt:00004511 HAO:0000101 MAT:0000086 MIAA:0000086 OpenCyc:Mx4rvVjSAZwpEbGdrcN5Y29ycA TGMA:0000007 The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head. UBERON:0000972 Wikipedia:Antenna_(biology) antennal antenno feeler uberon BTO:0000074 feeler FB:gg ISBN:3110148986 The paired, usually multiple jointed, sensory organs articulating on the procephalic region of the head capsule; its highly versatile sensory structures are capable to detect the various environmental stimuli. In the context of Drosophila refers to they are the most anterior segmented sensory appendage of the head. Wikipedia:Antenna_(biology) FBbt neck AEO:0000108 BTO:0000420 CALOHA:TS-2045 EFO:0000967 EHDAA2:0003108 FMA:7155 GAID:86 MA:0000024 MAT:0000297 MESH:A01.598 MIAA:0000297 OpenCyc:Mx4rvVjLF5wpEbGdrcN5Y29ycA SCTID:302550007 Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck[FMA]. UBERON:0000974 UMLS:C0027530 Usage notes: true necks are considered to be present when the pectoral girdle is separate from the skull - Tiktaalik is the earliest known fish to have a true neck. Wikipedia:Neck cervical collum galen:Neck http://upload.wikimedia.org/wikipedia/commons/thumb/9/99/Female_neck.jpg/200px-Female_neck.jpg ncithesaurus:Neck neck (volume) uberon ISBN:9780674021839 FMA:7155 neck (volume) Wikipedia:Neck collum Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck[FMA]. Wikipedia:Neck humerus AAO:0000679 CALOHA:TS-2202 EFO:0001398 EMAPA:18468 EMAPA:19106 FMA:13303 GAID:183 MA:0001356 MESH:A02.835.232.087.412 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah] Paired, elongate, cylindrical bones of endochondral origin that extend from the pectoral girdle to the elbows.[AAO] SCTID:181923006 UBERON:0000976 UMLS:C0020164 VHOG:0001158 Wikipedia:Humerus XAO:0003210 galen:Humerus homologous to proximal metapterygial mesomere of pectoral appendage [Hall 2007] http://upload.wikimedia.org/wikipedia/commons/6/67/Illu_upper_extremity.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/6/67/Illu_upper_extremity.jpg/200px-Illu_upper_extremity.jpg humeral humeri humerus bone ncithesaurus:Humerus uberon PHENOSCAPE:ad humeri 2012-09-17 ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] VHOG VHOG:0001158 http://bgee.unil.ch/ AAO:0000679 PHENOSCAPE:mah Paired endochondral long bone that extends between the pectoral girdle and the skeletal parts of the forelimb. [PHENOSCAPE:mah] VHOG:0001158 2012-06-20 AAO AAO:0000679 AAO:LAP Paired, elongate, cylindrical bones of endochondral origin that extend from the pectoral girdle to the elbows.[AAO] pleura BTO:0001791 CALOHA:TS-2081 EFO:0001980 EV:0100044 FMA:9583 GAID:360 In mouse, is_a cavity lining. In FMA, is_a (viscous) serous membrane (which includes mesothelium plus connective tissue). Note the MA structure should probably be associated with the mesothelium of pleura in FMA. JB/EHDAA2 argues the term 'pleura' is best used for the mesothelial lining (thus excluding connective tissue). See http://purl.obolibrary.org/obo/uberon/tracker/86 MA:0000433 MESH:A04.716 OpenCyc:Mx4rv3zwLZwpEbGdrcN5Y29ycA SCTID:181609007 The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side[BTO]. The serous membrane that covers the lungs and lines the pleural cavity. [Kaufman_MH_and_Bard_JBL, The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.264][VHOG] UBERON:0000977 UMLS:C0032225 VHOG:0000394 Wikipedia:Pleura http://upload.wikimedia.org/wikipedia/commons/thumb/a/ab/Gray965.png/200px-Gray965.png ncithesaurus:Pleural_Tissue pleura pleural pleural tissue uberon wall of pleural sac The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side[BTO]. Wikipedia:Pleura BTO:0001791 pleural tissue 2012-09-17 The serous membrane that covers the lungs and lines the pleural cavity. [Kaufman_MH_and_Bard_JBL, The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.264][VHOG] VHOG VHOG:0000394 http://bgee.unil.ch/ VHOG:0000394 tibia AAO:0000890 BTO:0001252 CALOHA:TS-1048 EFO:0003054 EMAPA:19142 FMA:24476 GAID:204 MA:0001361 MESH:A02.835.232.500.883 One of the two long bones of endochondral origin of the hind-epipodium; it is a straight, simple bone whose section is more or less rectangular at the ends and circular at its central portion.[AAO] OpenCyc:Mx4rvtq3-ZwpEbGdrcN5Y29ycA SCTID:182061009 The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]. UBERON:0000979 UMLS:C0040184 Wikipedia:Tibia galen:Tibia http://upload.wikimedia.org/wikipedia/commons/2/2a/Gray260.png http://upload.wikimedia.org/wikipedia/commons/thumb/2/2a/Gray260.png/200px-Gray260.png ncithesaurus:Tibia shankbone shinbone uberon Wikipedia:Tibia shankbone PHENOSCAPE:mah The major preaxial endochondral bone in the posterior zeugopod[Phenoscape]. Wikipedia:Tibia shinbone 2012-06-20 AAO AAO:0000890 AAO:LAP One of the two long bones of endochondral origin of the hind-epipodium; it is a straight, simple bone whose section is more or less rectangular at the ends and circular at its central portion.[AAO] femur AAO:0000889 BTO:0001284 CALOHA:TS-0322 EFO:0001396 EMAPA:18514 EMAPA:19143 Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]. Endochondral longbone connecting the pelvic girdle with posterior zeugopodium.[VSAO] FMA:9611 GAID:199 MA:0001359 MESH:A02.835.232.500.247 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] OpenCyc:Mx4rvVjOJJwpEbGdrcN5Y29ycA Paired, elongate, cylindrical bones of endochondral origin that form the thighs, extending from the pelvic girdles to the knees.[AAO] SCTID:182046008 UBERON:0000981 UMLS:C0015811 VHOG:0001159 VSAO:0000186 Wikipedia:Femur XAO:0003214 femoral femoral bone galen:Femur homologous to proximal metapterygial mesomere of pelvic appendage [Hall 2007]. http://upload.wikimedia.org/wikipedia/commons/7/73/Gray252.png http://upload.wikimedia.org/wikipedia/commons/thumb/7/73/Gray252.png/200px-Gray252.png ncithesaurus:Femur os femorale os femoris os longissimum thigh bone uberon 2012-09-17 ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] VHOG VHOG:0001159 http://bgee.unil.ch/ BTO:0001284 femoral bone BTO:0001284 os femorale Wikipedia:Femur os longissimum BTO:0001284 os femoris 2012-08-14 Endochondral longbone connecting the pelvic girdle with posterior zeugopodium.[VSAO] VSAO VSAO:0000186 VSAO:NI VHOG:0001159 2012-06-20 AAO AAO:0000889 AAO:LAP Paired, elongate, cylindrical bones of endochondral origin that form the thighs, extending from the pelvic girdles to the knees.[AAO] Endochondral longbone connecting the pelvic girdle with posterior zeugopodium skeleton.[VSAO, modified]. VSAO:0000186 Wikipedia:Femur haltere EFO:0000886 Editor notes: this term should be ceded to the arthropod anatomy ontology FBbt:00004783 MAT:0000203 MIAA:0000203 OpenCyc:Mx4rwL1JcJwpEbGdrcN5Y29ycA The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance. UBERON:0000987 Wikipedia:Haltere balancer organ uberon FBbt FB:gg ISBN:3110148986 The capitate stalk on both sides of the thorax having developed from the dorsal metathoracic wing-buds, it is freely movable and capable of vibration, representing the hind wing of Diptera; used for flight balance. Wikipedia:Haltere pons ABA:P BM:Pons BTO:0001101 Brainstrem structure that has as its parts the pontine tegmentum and basal part of pons[FMA]. CALOHA:TS-0813 During the embryonic development of birds and mammals, neuroblasts migrate from the cerebellum into the ventral part of the rhombencephalon and differentiate into pontine and other nuclei, which relay information from between the cerebrum and cerebellum, and a conspicuous band of transverse fibers. This region is known as the pons. A pons does not differentiate in reptiles and anamniotes (...).[well established][VHOG] EFO:0001394 EHDAA2:0004394 EMAPA:17563 EV:0100253 FMA:67943 GAID:578 MA:0000204 MAT:0000115 MESH:A08.186.211.132.810.428.600 MIAA:0000115 NIF_GrossAnatomy:birnlex_733 SCTID:279103004 The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. [TFD][VHOG] The pons is not present in zebrafish. In this ontology we currently have some structures which are applicable to zebrafish appearing as parts of the pons. Currently we only include the weaker dubious_for_taxon relationship ubtil this is resolved UBERON:0000988 UMLS:C0032639 VHOG:0001176 Wikipedia:Pons http://upload.wikimedia.org/wikipedia/commons/3/36/Gray768.png http://upload.wikimedia.org/wikipedia/commons/thumb/3/36/Gray768.png/200px-Gray768.png ncithesaurus:Pons_Varolii pons Varolii pons of Varolius uberon ABA VHOG:0001176 ncithesaurus:Pons_Varolii pons Varolii 2012-09-17 The part of the central nervous system lying between the medulla oblongata and the midbrain, ventral to the cerebellum. [TFD][VHOG] VHOG VHOG:0001176 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/pons 2012-09-17 During the embryonic development of birds and mammals, neuroblasts migrate from the cerebellum into the ventral part of the rhombencephalon and differentiate into pontine and other nuclei, which relay information from between the cerebrum and cerebellum, and a conspicuous band of transverse fibers. This region is known as the pons. A pons does not differentiate in reptiles and anamniotes (...).[well established][VHOG] ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.474 VHOG VHOG:0001176 http://bgee.unil.ch/ Brainstrem structure that has as its parts the pontine tegmentum and basal part of pons[FMA]. FMA:67943 Wikipedia:Pons penis BTO:0000405 CALOHA:TS-0758 EFO:0000987 EHDAA2:0001433 EHDAA:9380 EMAPA:18682 EMAPA:18996 EV:0100107 FMA:9707 GAID:389 MA:0000408 MAT:0000186 MESH:A05.360.444.492 MIAA:0000186 Most male birds (e.g., roosters and turkeys) have a cloaca (also present on the female), but not a penis. Among bird species with a penis are paleognathes (tinamous and ratites), Anatidae (ducks, geese and swans), and a very few other species (such as flamingoes). A bird penis is different in structure from mammal penises, being an erectile expansion of the cloacal wall and being erected by lymph, not blood. It is usually partially feathered and in some species features spines and brush-like filaments, and in flaccid state curls up inside the cloaca[WP] OpenCyc:Mx4rvVjkCZwpEbGdrcN5Y29ycA SCTID:265793009 The penis (plural penises, penes) is an external sexual organ of certain biologically male organisms, in both vertebrates and invertebrates. The penis is a reproductive organ, technically an intromittent organ, and for placental mammals, additionally serves as the external organ of urination. The penis is generally found on mammals and reptiles. [WP,unvetted]. UBERON:0000989 UMLS:C0030851 VHOG:0000727 Wikipedia:Penis galen:Penis http://upload.wikimedia.org/wikipedia/commons/thumb/8/87/Labelled_flaccid_penis.jpg/200px-Labelled_flaccid_penis.jpg ncithesaurus:Penis penile phallic phallus uberon The penis (plural penises, penes) is an external sexual organ of certain biologically male organisms, in both vertebrates and invertebrates. The penis is a reproductive organ, technically an intromittent organ, and for placental mammals, additionally serves as the external organ of urination. The penis is generally found on mammals and reptiles. [WP,unvetted]. Wikipedia:Penis VHOG:0000727 reproductive system AAO:0010258 Anatomical system that has as its parts the organs concerned with reproduction. Anatomical system which consists of organs and tissues associated with sexual reproduction of the organism.[AAO] Arguably, one of the most important aspects of urbilaterian organogenesis would have been gonadogenesis, since Urbilateria must have successfully generated gametes and developed a strategy for extrusion and fertilization, in order to be the ancestor of all living Bilateria.[well established][VHOG] BILA:0000103 BTO:0000081 CALOHA:TS-1318 EFO:0000809 EHDAA2:0001603 EHDAA:5923 EMAPA:17381 EV:0100100 Editor notes: consider splitting genitalia from reproductive system FBbt:00004857 FMA:7160 GAID:363 Geschlechtsorgan HAO:0000374 HAO:0000895 MA:0000326 MIAA:0000305 OpenCyc:Mx4rvVja4ZwpEbGdrcN5Y29ycA SCTID:278875001 TAO:0000632 UBERON:0000990 UMLS:C1261210 VHOG:0000182 WBbt:0005747 Wikipedia:Reproductive_system XAO:0000142 ZFA:0000632 animal reproductive system genital system genitalia http://upload.wikimedia.org/wikipedia/commons/5/52/Penis.svg http://upload.wikimedia.org/wikipedia/commons/thumb/5/52/Penis.svg/200px-Penis.svg.png ncithesaurus:Reproductive_System organa genitalia reproductive tissue systemata genitalia uberon Wikipedia:Reproductive_system systemata genitalia 2012-09-17 Arguably, one of the most important aspects of urbilaterian organogenesis would have been gonadogenesis, since Urbilateria must have successfully generated gametes and developed a strategy for extrusion and fertilization, in order to be the ancestor of all living Bilateria.[well established][VHOG] PMID:21672850 Extavour CGM, Gray anatomy: phylogenetic patterns of somatic gonad structures and reproductive strategies across Bilateria. Integrative and Comparative Biology (2007) VHOG VHOG:0000182 http://bgee.unil.ch/ Anatomical system that has as its parts the organs concerned with reproduction. Wikipedia:Reproductive_system VHOG:0000182 BTO:0000081 organa genitalia genitalia 2012-06-20 AAO AAO:0010258 AAO:BJB Anatomical system which consists of organs and tissues associated with sexual reproduction of the organism.[AAO] BTO:0000081 Geschlechtsorgan BTO:0000081 animal reproductive system BTO:0000081 reproductive tissue oviduct A passage through which ova leave the maternal body or pass to an organ communicating with the exterior of the body. [TFD][VHOG] AAO:0010533 BTO:0000980 EFO:0000974 EMAPA:18984 GAID:366 In all remaining vertebrates (i.e., coelacanths, lungfishes, amphibians, reptiles, birds, and mammals), the oviduct arises in ontogeny as a longitudinal, groovelike invagination of the coelomic epithelium on the lateral surface of the mesonephros.[well established][VHOG] MAT:0000126 MESH:A13.706 MIAA:0000126 TAO:0000560 UBERON:0000993 UMLS:C0029954 Usage notes: sometimes oviduct is used interchangeably with follaopian tube. Here they are different - the oviduct connects the gonad to the outside in a variety of animals. The mammal-class fallopian tube is derived from the mullerian duct and connects the gonads to the uterus. Taxon notes: in birds divided into infundibulum, magnum, isthmus, uterus, and vagina VHOG:0001136 Wikipedia:Oviduct XAO:0003052 ZFA:0000560 ncithesaurus:Oviduct passage from the ovaries to the outside of the body[Wikipedia:Oviduct]. tuba uterina tuba uterinae uberon uterine tube BTO:0000980 tuba uterinae VHOG:0001136 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.687-688 In all remaining vertebrates (i.e., coelacanths, lungfishes, amphibians, reptiles, birds, and mammals), the oviduct arises in ontogeny as a longitudinal, groovelike invagination of the coelomic epithelium on the lateral surface of the mesonephros.[well established][VHOG] VHOG VHOG:0001136 http://bgee.unil.ch/ BTO:0000980 tuba uterina 2012-09-17 A passage through which ova leave the maternal body or pass to an organ communicating with the exterior of the body. [TFD][VHOG] VHOG VHOG:0001136 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/oviduct Wikipedia:Oviduct passage from the ovaries to the outside of the body[Wikipedia:Oviduct]. spermathecum BTO:0001273 EFO:0000977 FBbt:00004921 HAO:0000945 MAT:0000168 MIAA:0000168 TGMA:0000560 This class was created automatically from a combination of ontologies UBERON:0000994 WBbt:0005319 Wikipedia:Spermatheca an organ of the female reproductive tract in insects, some molluscs, oligochaeta worms and certain other invertebrates and vertebrates.[1] Its purpose is to receive and store sperm from the male, and can sometimes be the site of fertilization when the oocytes are ready.[2] Some species have multiple spermathecae, as seen in earthworms, where four pairs of spermathecae are present. One pair in 6,7,8 and 9 segments. They receive and store the spermatozoa of another earthworm during copulation.[3] They are lined with epithelium and are variable in shape; some are thin, heavily coiled tubes, others are vague outpocketings from the main reproductive tract. It is one of the many variations in sexual reproduction[WP]. an accordion-like tube that contains sperm and is the site of oocyte fertilization. receptaculum seminis seminal receptacle spermatheca spermathecae uberon BTO:0001273 receptaculum seminis Wikipedia:Spermatheca an organ of the female reproductive tract in insects, some molluscs, oligochaeta worms and certain other invertebrates and vertebrates.[1] Its purpose is to receive and store sperm from the male, and can sometimes be the site of fertilization when the oocytes are ready.[2] Some species have multiple spermathecae, as seen in earthworms, where four pairs of spermathecae are present. One pair in 6,7,8 and 9 segments. They receive and store the spermatozoa of another earthworm during copulation.[3] They are lined with epithelium and are variable in shape; some are thin, heavily coiled tubes, others are vague outpocketings from the main reproductive tract. It is one of the many variations in sexual reproduction[WP]. an accordion-like tube that contains sperm and is the site of oocyte fertilization. spermathecae spermatheca uterus An infundibulum, uterine tube, uterus, and vagina also differentiate along the oviducts of eutherian mammals.[well established][VHOG] BTO:0001424 CALOHA:TS-1102 EFO:0000975 EMAPA:29915 EV:0100113 FMA:17558 GAID:172 MA:0000389 MAT:0000127 MESH:A05.360.319.679 MIAA:0000127 Most animals that lay eggs, such as birds and reptiles, have an oviduct instead of a uterus. In monotremes, mammals which lay eggs and include the platypus, either the term uterus or oviduct is used to describe the same organ, but the egg does not develop a placenta within the mother and thus does not receive further nourishment after formation and fertilization. Marsupials have two uteruses, each of which connect to a lateral vagina and which both use a third, middle "vagina" which functions as the birth canal. Marsupial embryos form a choriovitelline "placenta" (which can be thought of as something between a monotreme egg and a "true" placenta), in which the egg's yolk sac supplies a large part of the embryo's nutrition but also attaches to the uterine wall and takes nutrients from the mother's bloodstream. OpenCyc:Mx4rvViojJwpEbGdrcN5Y29ycA SCTID:181452004 The hollow muscular organ in female mammals in which the blastocyst normally becomes embedded and in which the developing embryo and fetus is nourished. Its cavity opens into the vagina below and into a uterine tube on either side. [TFD][VHOG] UBERON:0000995 UMLS:C0042149 VHOG:0001137 Wikipedia:Uterus a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus develops during gestation, usually developing completely in placental mammals such as humans and partially in marsupials such as kangaroos and opossums. Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused[WP]. galen:Uterus http://upload.wikimedia.org/wikipedia/commons/6/6a/Female_reproductive_system_lateral_nolabel.png http://upload.wikimedia.org/wikipedia/commons/thumb/c/cb/Female_anatomy.png/200px-Female_anatomy.png ncithesaurus:Uterus uberon uterine Wikipedia:Uterus a major female hormone-responsive reproductive sex organ of most mammals including humans. One end, the cervix, opens into the vagina, while the other is connected to one or both fallopian tubes, depending on the species. It is within the uterus that the fetus develops during gestation, usually developing completely in placental mammals such as humans and partially in marsupials such as kangaroos and opossums. Two uteruses usually form initially in a female fetus, and in placental mammals they may partially or completely fuse into a single uterus depending on the species. In many species with two uteruses, only one is functional. Humans and other higher primates such as chimpanzees, along with horses, usually have a single completely fused uterus, although in some individuals the uteruses may not have completely fused[WP]. 2012-09-17 An infundibulum, uterine tube, uterus, and vagina also differentiate along the oviducts of eutherian mammals.[well established][VHOG] ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.678 VHOG VHOG:0001137 http://bgee.unil.ch/ 2012-09-17 The hollow muscular organ in female mammals in which the blastocyst normally becomes embedded and in which the developing embryo and fetus is nourished. Its cavity opens into the vagina below and into a uterine tube on either side. [TFD][VHOG] VHOG VHOG:0001137 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/uterus VHOG:0001137 vagina BTO:0000243 CALOHA:TS-1103 EFO:0000976 EMAPA:18986 EV:0100117 FMA:19949 GAID:381 MA:0000394 MAT:0000128 MESH:A05.360.319.779 MIAA:0000128 OpenCyc:Mx4rvVj1B5wpEbGdrcN5Y29ycA Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina.[FMA] SCTID:181441005 Taxon notes (via vHOG): "The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria." Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective, Third Edition (2001) Orlando Fla.: Harcourt College Publishers, p.688 The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria.[well established][VHOG] The genital canal in the female, leading from the opening of the vulva to the cervix of the uterus. [TFD][VHOG] UBERON:0000996 UMLS:C0042232 VHOG:0001138 Wikipedia:Vagina a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. distal oviductal region distal portion of oviduct galen:Vagina http://upload.wikimedia.org/wikipedia/commons/1/1b/Illu_repdt_female.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/a/a4/Vaginal_opening_-_english_description.jpg/200px-Vaginal_opening_-_english_description.jpg ncithesaurus:Vagina uberon vaginae vaginal vaginae 2012-11-29 FMA FMA:19949 Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina.[FMA] VHOG:0001138 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.688 The distal end of the oviducts differentiates as a vagina in Metatheria and Eutheria.[well established][VHOG] VHOG VHOG:0001138 http://bgee.unil.ch/ 2012-09-17 The genital canal in the female, leading from the opening of the vulva to the cervix of the uterus. [TFD][VHOG] VHOG VHOG:0001138 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/vagina FMA:19949 Wikipedia:Vagina a fibromuscular tubular tract leading from the uterus to the exterior of the body in female placental mammals and marsupials, or to the cloaca in female birds, monotremes, and some reptiles[WP]. seminal vesicle (In mammalian testis) Along the way (the sperm travel), three accessory sex glands, the seminal vesicle, prostate, and bulbourethral (Cowper's) gland, respectively, add their secretions as sperm move from the testes to the urethra.[well established][VHOG] AAO:0010788 BTO:0001234 CALOHA:TS-0919 EFO:0000986 EMAPA:19180 EV:0100106 Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct. Either of a pair of pouchlike glands situated on each side of the male urinary bladder that secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra. [TFD][VHOG] FMA:19386 Function notes: The seminal vesicles secrete a significant proportion of the fluid that ultimately becomes semen. Lipofuscin granules from dead epithelial cells give the secretion its yellowish color. About 50-70%[2] of the seminal fluid in humans originates from the seminal vesicles, but is not expelled in the first ejaculate fractions which are dominated by spermatozoa and zinc-rich prostatic fluid. GAID:394 MA:0000410 MAT:0000171 MESH:A05.360.444.713 MIAA:0000171 OpenCyc:Mx4rwTtRpJwpEbGdrcN5Y29ycA SCTID:181434004 UBERON:0000998 UMLS:C0036628 VHOG:0001379 Wikipedia:Seminal_vesicle glandula seminalis glandula vesiculosa gon_male_sves http://upload.wikimedia.org/wikipedia/commons/d/d1/Male_anatomy_en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/d/d1/Male_anatomy_en.svg/200px-Male_anatomy_en.svg.png ncithesaurus:Seminal_Vesicle seminal gland uberon vas efferens vesicul%c3%a6 seminales vesicula seminalis vesiculae seminales vesicular gland vesicular glands vesicular seminalis vesiculæ seminales Wikipedia:Seminal_vesicle vesicul%c3%a6 seminales BTO:0001234 vesicula seminalis Wikipedia:Seminal_vesicle vesicular glands 2012-09-17 Either of a pair of pouchlike glands situated on each side of the male urinary bladder that secrete seminal fluid and nourish and promote the movement of spermatozoa through the urethra. [TFD][VHOG] VHOG VHOG:0001379 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/prominence BTO:0001234 glandula vesiculosa Wikipedia:Seminal_vesicle vesicular seminalis Wikipedia:Seminal_vesicle vesicula seminalis Wikipedia:Seminal_vesicle vesiculæ seminales Wikipedia:Seminal_vesicle vesiculae seminales Wikipedia:Seminal_vesicle vesicular gland (In mammalian testis) Along the way (the sperm travel), three accessory sex glands, the seminal vesicle, prostate, and bulbourethral (Cowper's) gland, respectively, add their secretions as sperm move from the testes to the urethra.[well established][VHOG] 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.556 VHOG VHOG:0001379 http://bgee.unil.ch/ BTO:0001234 glandula seminalis VHOG:0001379 BTO:0001234 Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct. Wikipedia:Seminal_vesicle ejaculatory duct BTO:0001580 CALOHA:TS-0211 EFO:0000985 EMAPA:19088 FMA:19325 GAID:388 MAT:0000170 MESH:A05.360.444.251 MIAA:0000170 OpenCyc:Mx4rwOt7MJwpEbGdrcN5Y29ycA SCTID:279665005 The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]. UBERON:0000999 UMLS:C0013747 Wikipedia:Ejaculatory_duct ductus ejaculatorii ductus ejaculatorius http://upload.wikimedia.org/wikipedia/commons/3/35/Male_anatomy.png http://upload.wikimedia.org/wikipedia/commons/thumb/3/35/Male_anatomy.png/200px-Male_anatomy.png ncithesaurus:Ejaculatory_Duct uberon BTO:0001580 ductus ejaculatorii Wikipedia:Ejaculatory_duct ductus ejaculatorii The Ejaculatory ducts (ductus ejaculatorii) are paired structures in male anatomy, about 2 cm in length. Each ejaculatory duct is formed by the union of the vas deferens with the duct of the seminal vesicle. They pass through the prostate, and empty into the urethra at the Colliculus seminalis. During ejaculation, semen passes through the ducts and exits the body via the penis[WP,unvetted]. Wikipedia:Ejaculatory_duct BTO:0001580 ductus ejaculatorius vas deferens BTO:0001427 CALOHA:TS-1105 EFO:0000981 EMAPA:18681 EV:0100105 FMA:19234 GAID:404 MA:0000413 MESH:A05.360.444.930 MIAA:0000129 OpenCyc:Mx4rvjv7bpwpEbGdrcN5Y29ycA SCTID:245467009 Taxon notes (from WP): Most vertebrates have some form of duct to transfer the sperm from the testes to the urethra. In cartilaginous fish and amphibians, sperm is carried through the archinephric duct, which also partially helps to transport urine from the kidneys. In teleosts, there is a distinct sperm duct, separate from the ureters, and often called the vas deferens, although probably not truly homologous with that in humans. In cartilaginous fishes, the part of the archinephric duct closest to the testis is coiled up to form an epididymis. Below this are a number of small glands secreting components of the seminal fluid. The final portion of the duct also receives ducts from the kidneys in most species. In amniotes, however, the archinephric duct has become a true vas deferens, and is used only for conducting sperm, never urine. As in cartilaginous fish, the upper part of the duct forms the epididymis. In many species, the vas deferens ends in a small sac for storing sperm. The only vertebrates to lack any structure resembling a vas deferens are the primitive jawless fishes, which release sperm directly into the body cavity, and then into the surrounding water through a simple opening in the body wall. The continuation of the archinephric duct, now called the deferent duct, extends caudally to the cloaca or to the part of the mammalian urethra that is derived from the cloaca.[well established][VHOG] UBERON:0001000 UMLS:C0042360 VHOG:0001135 Wikipedia:Vas_deferens deferent duct duct that transports sperm from the testis. In mammals this is from the epididymis. ductus deferens galen:VasDeferens http://upload.wikimedia.org/wikipedia/commons/d/d1/Male_anatomy_en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/d/d1/Male_anatomy_en.svg/200px-Male_anatomy_en.svg.png ncithesaurus:Vas_Deferens sperm duct uberon vas deferen vasa deferentia Wikipedia:Vas_deferens ductus deferens 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.670 The continuation of the archinephric duct, now called the deferent duct, extends caudally to the cloaca or to the part of the mammalian urethra that is derived from the cloaca.[well established][VHOG] VHOG VHOG:0001135 http://bgee.unil.ch/ Wikipedia:Vas_deferens duct that transports sperm from the testis. In mammals this is from the epididymis. VHOG:0001135 chitin-based cuticle EFO:0000944 FBbt:00004970 HAO:0000240 MAT:0000150 MIAA:0000150 OpenCyc:Mx4rvVkBTJwpEbGdrcN5Y29ycA TODO - split from exoskeleton? Also: See above sf item to see if this belongs in GO The main structural component of arthropod cuticle is a polysaccharide, chitin, composed of N-acetylglucosamine units, together with proteins and lipids[WP]. UBERON:0001001 UBERON:FBbt_00004970 Wikipedia:Cuticle#Invertebrate_zoology arthropod cuticle cuticle exoskeleton insect cuticle uberon The main structural component of arthropod cuticle is a polysaccharide, chitin, composed of N-acetylglucosamine units, together with proteins and lipids[WP]. Wikipedia:Cuticle#Invertebrate_zoology https://orcid.org/0000-0002-6601-2165 https://sourceforge.net/tracker/index.php?func=detail&aid=3348965&group_id=36855&atid=440764 FBbt:00004970 cuticle epidermis (...) outer epithelia in all metazoan animals are homologous. (...) The ancestor of all metazoans likely had an epidermis with a basal extracellular matrix (ECM), an apical extracellular glycocalyx, and one cilium with a striated rootlet per cell.[well established][VHOG] A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. Le Guellec et al, 2004.[TAO] AAO:0000143 BTO:0000404 CALOHA:TS-0283 EFO:0000954 EV:0100153 FMA:70596 GAID:932 MA:0000153 MAT:0000154 MESH:A10.272.497 MIAA:0000154 SCTID:361694003 TAO:0000105 The outer epithelial layer of the external integument of the body that is derived from the embryonic epiblast.[AAO] The outer layer of the skin[WP]. cellular, multilayered epithelium derived from the ectoderm[ZFA]. UBERON:0001003 UMLS:C0014520 VHOG:0000077 Wikipedia:Epidermis_(skin) XAO:0000028 ZFA:0000105 Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. In terrestrial vertebrates the epidermis often forms an outer keratinized or cornified layer, the stratum corneum. Interaction between the epideris and dermis gives rise to feathers (birds), hair and mammary glands (mammals), teeth and scales (placoid: chondrichthyans; cosmoids, ganoid, cycloid in bony fishes). adult epidermis epidermal ncithesaurus:Epidermis relationship loss: subclass external integument structures (AAO:0000961)[AAO] skin uberon vertebrate epidermis 2012-06-20 AAO AAO:0000143 AAO:BJB The outer epithelial layer of the external integument of the body that is derived from the embryonic epiblast.[AAO] VHOG:0000077 (...) outer epithelia in all metazoan animals are homologous. (...) The ancestor of all metazoans likely had an epidermis with a basal extracellular matrix (ECM), an apical extracellular glycocalyx, and one cilium with a striated rootlet per cell.[well established][VHOG] 2012-09-17 ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.71-72 VHOG VHOG:0000077 http://bgee.unil.ch/ 2012-08-14 A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. Le Guellec et al, 2004.[TAO] TAO TAO:0000105 ZFIN:curator ISBN10:0073040584 The outer layer of the skin[WP]. cellular, multilayered epithelium derived from the ectoderm[ZFA]. Wikipedia:Epidermis_(skin) 2012-06-20 AAO AAO:0000143 relationship loss: subclass external integument structures (AAO:0000961)[AAO] respiratory system AAO:0000541 Atmungssystem BTO:0000203 CALOHA:TS-1319 EFO:0000804 EHDAA2:0001604 EHDAA:2203 EMAPA:16727 EV:0100036 FMA:7158 Functional system which consists of structures involved in respiration. GAID:78 MA:0000327 MAT:0000030 MESH:A04 MIAA:0000030 OpenCyc:Mx4rvVjzFJwpEbGdrcN5Y29ycA SCTID:278197002 TAO:0000272 The anatomical system in which the exchange of oxygen and carbon dioxide between the organism and its environment.[AAO] There is no doubt that the primitive pattern of vertebrate air-breathing is the buccal pulse pump found in actinopterygian fishes.[well established][VHOG] UBERON:0001004 UMLS:C0035237 VHOG:0000202 Wikipedia:Respiratory_system XAO:0000117 ZFA:0000272 apparatus respiratorius http://upload.wikimedia.org/wikipedia/commons/5/5e/Respiratory_system_complete_en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/5/5e/Respiratory_system_complete_en.svg/200px-Respiratory_system_complete_en.svg.png ncithesaurus:Respiratory_System respiratory system systema respiratorium uberon 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.599 and Figure 18-23 There is no doubt that the primitive pattern of vertebrate air-breathing is the buccal pulse pump found in actinopterygian fishes.[well established][VHOG] VHOG VHOG:0000202 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0000541 AAO:BJB The anatomical system in which the exchange of oxygen and carbon dioxide between the organism and its environment.[AAO] Wikipedia:Respiratory_system systema respiratorium Atmungssystem BTO:0000203 Functional system which consists of structures involved in respiration. Wikipedia:Respiratory_system BTO:0000203 apparatus respiratorius VHOG:0000202 Wikipedia:Acoelomorpha digestive system AAO:0000129 An anatomical system consisting of the alimentary canal and digestive glands responsible for intake, absorption, digestion and excretion of food.[AAO] Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. BILA:0000082 BTO:0000058 CALOHA:TS-1293 EFO:0000793 EV:0100056 FBbt:00005055 FMA:7152 GAID:278 MA:0002431 MAT:0000018 MESH:A03 MIAA:0000018 SCTID:278859004 TADS:0000170 TAO:0000339 UBERON:0001007 WBbt:0005748 Wikipedia:Digestive_system XAO:0000125 ZFA:0000339 alimentary system alimentary tract digestive galen:DigestiveSystem gastrointestinal system gut ncithesaurus:Digestive_System note that many anatomy ontologies consider gastrointestinal system synonymous with digestive system. here we follow MA in dividing digestive system into gastrointestinal and hepatobiliary. hepatobiliary includes the liver and biliary tract. species-specific AO classes are categorized according to whether liver is included. For example, XAO includes liver as part of XAO:0000125 alimentary system, so we assume this class is the more generic class uberon 2012-06-20 AAO AAO:0000129 AAO:BJB An anatomical system consisting of the alimentary canal and digestive glands responsible for intake, absorption, digestion and excretion of food.[AAO] Anatomical system that has as its parts the organs devoted to the ingestion, digestion, and assimilation of food and the discharge of residual wastes. FB:gg NLM:alimentary+system Wikipedia:Digestive_system, adipose tissue AAO:0000001 AEO:000020 Adipose tissue is unique to vertebrates. It is found in mostmammals, birds, reptiles and amphibians, and a variety is found in some species of fish. Furthermore, in insects the fat body found in larvae as well as in adults shares some homology with adipose tissue.[well established][VHOG] BTO:0001487 CALOHA:TS-0013 Connective tissue composed of adipocytes. Connective tissue in which fat is stored.[TAO] EFO:0000790 EHDAA2:0003120 EV:0100381 FMA:20110 GAID:920 MA:0000009 MAT:0000015 MESH:A10.165.114 MIAA:0000015 Note in FMA this is dense irregular connective tissue. Taxon notes: n humans, adipose tissue is located beneath the skin (subcutaneous fat), around internal organs (visceral fat), in bone marrow (yellow bone marrow) and in breast tissue. Adipose tissue is found in specific locations, which are referred to as adipose depots. Adipose tissue contains several cell types, with the highest percentage of cells being adipocytes, which contain fat droplets. Other cell types include fibroblasts, macrophages, and endothelial cells. Adipose tissue contains many small blood vessels.; Mice have eight major adipose depots, four of which are within the abdominal cavity. The paired gonadal depots are attached to the uterus and ovaries in females and the epididymis and testes in males; the paired retroperitoneal depots are found along the dorsal wall of the abdomen, surrounding the kidney, and, when massive, extend into the pelvis. The mesenteric depot forms a glue-like web that supports the intestines, and the omental depot, which originates near the stomach and spleen, and, when massive, extends into the ventral abdomen. OpenCyc:Mx4rvVjc_ZwpEbGdrcN5Y29ycA SCTID:55603005 TAO:0002134 Tissue that contains adipocytes, used for cushioning, thermal insulation, lubrication (primarily in the pericardium) and energy storage.[AAO] UBERON:0001013 UMLS:C0001527 VHOG:0001284 Wikipedia:Adipose_tissue XAO:0003049 ZFA:0005345 adipose adipose bodyfat fat fat tissue fatty depot fatty tissue galen:FattyTissue ncithesaurus:Adipose_Tissue relationship loss: subclass connective tissue proper (AAO:0000099)[AAO] uberon BTO:0001487 bodyfat BTO:0001487 adipose MA:0000009 fat Connective tissue composed of adipocytes. Wikipedia:Adipose_tissue 2012-09-17 Adipose tissue is unique to vertebrates. It is found in mostmammals, birds, reptiles and amphibians, and a variety is found in some species of fish. Furthermore, in insects the fat body found in larvae as well as in adults shares some homology with adipose tissue.[well established][VHOG] DOI:10.1017/S0029665107005423 Haugen F, Drevon CA, The interplay between nutrients and the adipose tissue. The Proceedings of the Nutrition Society (2007) VHOG VHOG:0001284 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0000001 AAO:LAP Tissue that contains adipocytes, used for cushioning, thermal insulation, lubrication (primarily in the pericardium) and energy storage.[AAO] 2012-08-14 Connective tissue in which fat is stored.[TAO] TAO TAO:0002134 ZFIN:curator 2012-06-20 AAO AAO:0000001 relationship loss: subclass connective tissue proper (AAO:0000099)[AAO] VHOG:0001284 nervous system A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[TAO] AAO:0000324 Anatomical system consisting of nerve bodies and nerve fibers which regulate the response of the body to external and internal stimuli.[AAO] BILA:0000079 BTO:0001484 CALOHA:TS-1313 EFO:0000802 EHDAA2:0001246 EHDAA:826 EMAPA:16469 EV:0100162 FBbt:00005093 FMA:7157 GAID:466 MA:0000016 MAT:0000026 MESH:A08 MIAA:0000026 NIF_GrossAnatomy:birnlex_844 Nervensystem Nervous systems evolved in the ancestor of Eumetazoa.[well established][VHOG] OpenCyc:Mx4rvViT_pwpEbGdrcN5Y29ycA SCTID:278196006 TAO:0000396 This class was created automatically from a combination of ontologies UBERON:0001016 UMLS:C0027763 VHOG:0000402 WBbt:0005735 Wikipedia:Nervous_system XAO:0000177 ZFA:0000396 a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia]. http://upload.wikimedia.org/wikipedia/commons/b/b2/TE-Nervous_system_diagram.svg http://upload.wikimedia.org/wikipedia/commons/thumb/b/ba/Nervous_system_diagram.png/200px-Nervous_system_diagram.png ncithesaurus:Nervous_System nerve net nervous neural relationship type change: differentiates_from ectoderm (AAO:0000137) CHANGED TO: develops_from ectoderm (UBERON:0000924)[AAO] systema nervosum uberon ISBN:0-14-051288-8 ISBN:3110148986 NLM:nervous+system WB:rynl Wikipedia:Nervous_system ZFIN:curator a network of specialized cells that communicate information about an organism's surroundings and itself[Wikipedia]. 2012-08-14 A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[TAO] TAO TAO:0000396 ZFIN:curator Wikipedia:Nervous_system systema nervosum 2012-06-20 AAO AAO:0000324 AAO:BJB Anatomical system consisting of nerve bodies and nerve fibers which regulate the response of the body to external and internal stimuli.[AAO] 2012-09-17 ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.117 Nervous systems evolved in the ancestor of Eumetazoa.[well established][VHOG] VHOG VHOG:0000402 http://bgee.unil.ch/ BTO:0001484 Nervensystem 2012-06-20 AAO AAO:0000324 relationship type change: differentiates_from ectoderm (AAO:0000137) CHANGED TO: develops_from ectoderm (UBERON:0000924)[AAO] Wikipedia:Nerve_net nerve net VHOG:0000402 central nervous system (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2); Taken together, our data make a very strong case that the complex molecular mediolateral architecture of the developing trunk CNS (central nervous system), as shared between Platynereis and vertebrates, was already present in their last common ancestor, Urbilateria. The concept of bilaterian nervous system centralization implies that neuron types concentrate on one side of the trunk, as is the case in vertebrates and many invertebrates including Platynereis, where they segregate and become spatially organized (as opposed to a diffuse nerve net). Our data reveal that a large part of the spatial organization of the annelid and vertebrate CNS was already present in their last common ancestor, which implies that Urbilateria had already possessed a CNS (reference 3).[well established][VHOG] AAO:0000090 BILA:0000080 BTO:0000227 CALOHA:TS-0150 CNS EFO:0000908 EHDAA2:0000225 EHDAA:828 EMAPA:16470 EMAPA:16754 EV:0100163 FBbt:00005094 FMA:55675 GAID:570 MA:0000167 MAT:0000457 MESH:A08.186 NIF_GrossAnatomy:birnlex_1099 OpenCyc:Mx4rvzYt3pwpEbGdrcN5Y29ycA Part of the nervous system which includes the brain and spinal cord.[AAO] SCTID:278199004 TAO:0000012 The brain and spinal cord. Kimmel et al, 1995.[TAO] The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF]. UBERON:0001017 UMLS:C0927232 VHOG:0000293 Wikipedia:Central_nervous_system XAO:0000215 ZFA:0000012 cerebrospinal axis ncithesaurus:Central_Nervous_System neuraxis systema nervosum centrale uberon 2012-06-20 AAO AAO:0000090 AAO:BJB Part of the nervous system which includes the brain and spinal cord.[AAO] FB:gg ISBN:3110148986 NLM:central+nervous+system The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord[GO]. The part of the nervous system which in vertebrates consists of the brain and spinal cord, to which sensory impulses are transmitted and from which motor impulses pass out, and which supervises and coordinates the activity of the entire nervous system[XAO]. Neuraxis plus retina[INCF]. Wikipedia:Central_nervous_system ZFIN:curator FMA:55675 FMA:TA systema nervosum centrale FMA:55675 neuraxis FMA:55675 cerebrospinal axis (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2); Taken together, our data make a very strong case that the complex molecular mediolateral architecture of the developing trunk CNS (central nervous system), as shared between Platynereis and vertebrates, was already present in their last common ancestor, Urbilateria. The concept of bilaterian nervous system centralization implies that neuron types concentrate on one side of the trunk, as is the case in vertebrates and many invertebrates including Platynereis, where they segregate and become spatially organized (as opposed to a diffuse nerve net). Our data reveal that a large part of the spatial organization of the annelid and vertebrate CNS was already present in their last common ancestor, which implies that Urbilateria had already possessed a CNS (reference 3).[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28 (reference 1), ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165 (reference 2), DOI:10.1016/j.cell.2007.02.040 Denes AS, Jekely G, Steinmetz PRH, Raible F, Snyman H, Prud'homme B, Ferrier DEK, Balavoine G and Arendt D, Molecular architecture of annelid nerve cord supports common origin of nervous system centralization in Bilateria. Cell (2007) (reference 3) VHOG VHOG:0000293 http://bgee.unil.ch/ Wikipedia:Acoelomorpha VHOG:0000293 2012-08-14 TAO TAO:0000012 The brain and spinal cord. Kimmel et al, 1995.[TAO] ZFIN:curator sensory system AAO:0000555 An early step in the evolution of neural crest, therefore, may have been the origin of a specific dorsal neural cell population contributing to sensory processing; this would predate the divergence of the amphioxus and vertebrate lineages.[well established][VHOG] Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. BILA:0000099 EFO:0000805 EHDAA2:0003094 FBbt:00005827 FMA:75259 MA:0002442 MAT:0000031 MIAA:0000031 NIF_GrossAnatomy:nlx_anat_090816 TAO:0000282 UBERON:0001032 VHOG:0001674 Wikipedia:Sensory_system XAO:0003194 ZFA:0000282 http://upload.wikimedia.org/wikipedia/commons/c/c0/Gray722.png http://upload.wikimedia.org/wikipedia/commons/thumb/c/c0/Gray722.png/200px-Gray722.png note the distinct between entire sensory system and individual system. this reconciles is_a and part_of distinctions between ssAOs organa sensuum sense organ subsystem sense organs sense organs set sensory organ system sensory subsystem sensory systems set of sense organs uberon FMA:75259 sense organs set FMA:75259 sense organs Anatomical system that overlaps the nervous system and is responsible for receiving and processing sensory information. Wikipedia:Sensory_system VHOG:0001674 FMA:75259 set of sense organs 2012-09-17 An early step in the evolution of neural crest, therefore, may have been the origin of a specific dorsal neural cell population contributing to sensory processing; this would predate the divergence of the amphioxus and vertebrate lineages.[well established][VHOG] DOI:10.1073/pnas.97.9.4449 Shimeld SM and Holland PW. Vertebrate innovations. PNAS (2000) VHOG VHOG:0001674 http://bgee.unil.ch/ TAO:0000282 sensory systems Wikipedia:Sensory_system organa sensuum FMA:75259 FMA:TA organa sensuum gustatory system A subset of the sensory system for the sensing of taste. AAO:0010577 BILA:0000143 EFO:0000830 FMA:7194 MA:0002446 MAT:0000275 MIAA:0000275 NIF_GrossAnatomy:nlx_anat_090803 SCTID:423940004 TAO:0001101 The sensory system used for the sense of taste.[AAO] UBERON:0001033 Wikipedia:Gustatory_system XAO:0003197 ZFA:0001101 gustatory gustatory organ system in ZFA and MA this is a subtype of sensory system. we should change sensory system to disambiguate parts and wholes taste system uberon A subset of the sensory system for the sensing of taste. Wikipedia:Gustatory_system 2012-06-20 AAO AAO:0010577 AAO:EJS The sensory system used for the sense of taste.[AAO] chordotonal organ Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament. EFO:0000940 FBbt:00005215 MAT:0000209 MIAA:0000209 This class was created automatically from a combination of ontologies UBERON:0001038 Wikipedia:Chordotonal_organ ch scolopophorous organ uberon Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament. FB:FBrf0056378 Wikipedia:Chordotonal_organ yolk sac BTO:0001471 CALOHA:TS-1130 EFO:0003078 EHDAA2:0002212 EHDAA:164 EMAPA:16085 FMA:87180 GAID:1301 MESH:A16.254.403.981 Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes. One of the extraembryonic fetal membranes that balloons out from the fetal midgut. [TFD][VHOG] SCTID:362845002 Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] Taxon notes: In therians, a structure homologous to the yolk sac is is present, but contains no yolk platelets. Instead it is filled with fluid [ISBN10:0073040584 "Vertebrates, Kardong"] UBERON:0001040 UMLS:C0043425 VHOG:0000830 Wikipedia:Yolk_sac http://upload.wikimedia.org/wikipedia/commons/1/17/Gray22.png http://upload.wikimedia.org/wikipedia/commons/thumb/1/17/Gray22.png/200px-Gray22.png ncithesaurus:Yolk_Sac saccus vitellinus uberon vesicula umbilicalis 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.187 Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] VHOG VHOG:0000830 http://bgee.unil.ch/ Wikipedia:Yolk_sac saccus vitellinus VHOG:0000830 Membranous sac attached to an embryo, providing early nourishment in the form of yolk in bony fishes, sharks, reptiles, birds, and primitive mammals. It functions as the developmental circulatory system of the human embryo, before internal circulation begins. In the mouse, the yolk sac is the first site of blood formation, generating primitive macrophages and erythrocytes. Wikipedia:Yolk_sac Wikipedia:Yolk_sac vesicula umbilicalis ISBN10:0073040584 2012-09-17 One of the extraembryonic fetal membranes that balloons out from the fetal midgut. [TFD][VHOG] VHOG VHOG:0000830 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/yolk+sac chordate pharynx (...) the earliest vertebrates possessed unjointed internal and external branchial arches, and musculature encircling the pharynx.[well established][VHOG] A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNYX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx)[MESH:A03.867]. A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. AAO:0000967 Anatomical cavity bounded by the derivatives of the branchial arches.[AAO] BTO:0001049 EFO:0000836 EHDAA2:0001458 EHDAA:2947 EMAPA:16706 EMAPA:18838 EV:0100065 FMA:46688 GAID:155 MA:0000432 MESH:A03.867 Note that MA/FMA pharynx not part of digestive/alimentary system, we are consistent with this scheme OpenCyc:Mx4rvViv7ZwpEbGdrcN5Y29ycA SCTID:181211006 Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[TAO] Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills[ZFA:0000056, ZFIN:ZDB-PUB-961014-576]. TAO:0000056 The portion of the alimentary canal between the mouth and the oesophagus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:0001042 UMLS:C0031354 VHOG:0000462 Wikipedia:Pharynx XAO:0003227 ZFA:0000056 galen:Pharynx ncithesaurus:Pharynx pharynx relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: develops_from respiratory system (UBERON:0001004)[AAO] relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: part_of respiratory system (UBERON:0001004)[AAO] uberon A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNYX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx)[MESH:A03.867]. MESH:A03.867 A portion of the respiratory and digestive tracts; its distal limit is the superior part of the esophagus and it connects the nasal and oral cavities with the esophagus and larynx; it contains the valleculae and the pyriform recesses; its upper limits are the nasal cavity and cranial base.[FEED]. http://www.feedexp.org 2012-06-20 AAO AAO:0000967 relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: develops_from respiratory system (UBERON:0001004)[AAO] 2012-06-20 AAO AAO:0000967 relationship type change: part_of_proxy respiratory system (AAO:0000541) CHANGED TO: part_of respiratory system (UBERON:0001004)[AAO] FMA:46688 pharynx VHOG:0000462 2012-06-20 AAO AAO:0000967 AAO:EJS Anatomical cavity bounded by the derivatives of the branchial arches.[AAO] (...) the earliest vertebrates possessed unjointed internal and external branchial arches, and musculature encircling the pharynx.[well established][VHOG] 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) Box essay 13.1 and Box figure I, p.502-503 VHOG VHOG:0000462 http://bgee.unil.ch/ 2012-08-14 Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[TAO] TAO TAO:0000056 ZFIN:curator Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills[ZFA:0000056, ZFIN:ZDB-PUB-961014-576]. ZFIN:ZDB-PUB-961014-576 2012-09-17 The portion of the alimentary canal between the mouth and the oesophagus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000462 http://bgee.unil.ch/ esophagus AAO:0000145 ANISEED:1235301 AO notes: esophagus NOT part of gut in MA. part of gut in ZFA. part_of gut (via UGIT) in FMA. Consider splitting. Interspecies: The human oesophagus is 25 cm long and has a diameter of ca. 2 cm. Only little information was found on the oesophagus in rat, rabbit and pig. The oesophagus of rat (75 x 2 mm) and rabbit has no mucous glands and the cardia of the stomach has a well-developed sphincter, which prevents them from vomiting (Hebel and Stromberg, 1988; Manning et al., 1994). Morphologically the oesophagus is similar in man and pig; both are omnivores and have a non-keratinised epithelium, submucous glands and similar membrane enzymes. Like in humans, pigs can suffer from reflux oesophagitis and stress ulceration of the oesophagus. The pig oesophagus may therefore be a good model for investigation compared to the human oesophagus (Christie et al., 1995) Anterior end of the alimentary canal lined with smooth muscle. Bounded anteriorly by a constriction in the pharynx. Bounded posteriorly by and increase in circular and/or longitudinal smooth muscle associated with the stomach.[AAO] BTO:0000959 CALOHA:TS-0700 EFO:0000835 EHDAA2:0001285 EHDAA:2937 EMAPA:16833 EMAPA:18860 EV:0100069 FMA:7131 GAID:291 MA:0000352 MAT:0000048 MESH:A03.365 MIAA:0000048 OpenCyc:Mx4rvVj9Q5wpEbGdrcN5Y29ycA SCTID:181245004 TAO:0000204 The few structural specializations in (adult lampreys) pharynx include complex valves on the external gill openings that direct the tidal flow, and the division of the ancestral pharynx into an oesophagus and a respiratory pharynx.[well established][VHOG] Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). UBERON:0001043 UMLS:C0014876 VHOG:0000450 Wikipedia:Esophagus XAO:0000127 ZFA:0000204 esophageal galen:Esophagus gullet http://upload.wikimedia.org/wikipedia/commons/d/d4/Illu01_head_neck.jpg ncithesaurus:Esophagus oesophagus uberon œsophagus Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993). Wikipedia:Esophagus http://www.rivm.nl/interspeciesinfo/inter/oesophagus/ VHOG:0000450 2012-09-17 DOI:10.1111/j.1096-3642.1996.tb01658.x Mallatt J, Ventilation and the origin of jawed vertebrates: a new mouth. Zoological Journal of the Linnean Society (1996) The few structural specializations in (adult lampreys) pharynx include complex valves on the external gill openings that direct the tidal flow, and the division of the ancestral pharynx into an oesophagus and a respiratory pharynx.[well established][VHOG] VHOG VHOG:0000450 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0000145 AAO:EJS Anterior end of the alimentary canal lined with smooth muscle. Bounded anteriorly by a constriction in the pharynx. Bounded posteriorly by and increase in circular and/or longitudinal smooth muscle associated with the stomach.[AAO] Wikipedia:Esophagus œsophagus salivary gland A gland that produces the saliva. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-25, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] BTO:0001203 CALOHA:TS-0892 EFO:0000859 EHDAA2:0001775 EHDAA:7987 EMAPA:17751 EV:0100059 FBbt:00005382 FMA:9597 GAID:937 In air-feeding animals, the lack of water column to lubricate the food has been compensated for by the evolution of the salivary glands. These glands are present only in amniotes and are controlled by the parasympathetic system.[well established][VHOG] MA:0000346 MAT:0000079 MESH:A10.336.779 MIAA:0000079 OpenCyc:Mx4rvVjl5ZwpEbGdrcN5Y29ycA SCTID:181236000 UBERON:0001044 UMLS:C0036098 VHOG:0000376 Wikipedia:Salivary_gland currently we define saliva and salivary glands very generally in functional terms but it may be more appropriate to split this class. From WP: In most vertebrates, saliva does not contain any enzymes, consisting of mucus and water only, and its primary function is to moisten food while eating. As a result, true salivary glands are rarely found in fish or aquatic tetrapods, although there are often individual mucus-secreting cells. Amphibians have a single salivary gland, the intermaxillary gland, located in the forward part of the palate. Reptiles and birds normally have only very small glands on the lips, palate, and base of the mouth, although there are some birds with large glands, which produce a sticky saliva that helps in nest-building. The distinct parotid, submandibular, and sublingual glands are only developed in mammals.[3] The salivary glands of some species, however, are modified to produce enzymes; salivary amylase is found in many, but by no means all, bird and mammal species (including humans, as noted above). Furthermore, the venom glands of poisonous snakes, Gila monsters, and some shrews, are modified salivary glands galen:SalivaryGland glandulae salivariae http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/5/51/Illu_quiz_hn_02.jpg/200px-Illu_quiz_hn_02.jpg ncithesaurus:Salivary_Gland saliva-secreting exocrine glands of the oral cavity[GO]. The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research[WP]. uberon 2012-09-17 A gland that produces the saliva. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-25, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] VHOG VHOG:0000376 http://bgee.unil.ch/ GO:0007431 Wikipedia:Salivary_gland saliva-secreting exocrine glands of the oral cavity[GO]. The salivary glands in mammals are exocrine glands, glands with ducts, that produce saliva. They also secrete amylase, an enzyme that breaks down starch into maltose. In other organisms such as insects, salivary glands are often used to produce biologically important proteins like silk or glues, and fly salivary glands contain polytene chromosomes that have been useful in genetic research[WP]. VHOG:0000376 Wikipedia:Salivary_gland glandulae salivariae 2012-09-17 ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptationm(2005) p.211 In air-feeding animals, the lack of water column to lubricate the food has been compensated for by the evolution of the salivary glands. These glands are present only in amniotes and are controlled by the parasympathetic system.[well established][VHOG] VHOG VHOG:0000376 http://bgee.unil.ch/ midgut BILA:0000086 BTO:0000863 EFO:0001950 EHDAA2:0001185 EHDAA:983 EMAPA:16255 Editor notes: Note we define this generically to include invertebrates (partly for consistency with GO), but the class may be split in future. We may explicitly make this a developmental class. AO Notes: in FMA this class has no children. FBbt:00005383 FMA:45617 MA:0001564 Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon. That part of the alimentary canal which lies between the gizzard and the hind intestine. SCTID:361410004 TGMA:0001036 The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] UBERON:0001045 UMLS:C0231052 VHOG:0000290 Wikipedia:Midgut XAO:0000103 http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg mesenteron ncithesaurus:Midgut uberon Wikipedia:Midgut mesenteron GO:0007494 Middle subdivision of a digestive tract[CJM]. In vertebrates: The middle part of the alimentary canal from the stomach, or entrance of the bile duct, to, or including, the large intestine[GO]. In humans: originates from the foregut at the opening of the bile duct into the duodenum and continues through the small intestine and much of the large intestine until the transition to the hindgut about two-thirds of the way through the transverse colon. That part of the alimentary canal which lies between the gizzard and the hind intestine. Wikipedia:Midgut VHOG:0000290 2012-09-17 ISBN:978-0030259821 Ruppert EE, Fox RS, Barnes RD, Invertebrate zoology: a functional evolutionary approach (2003) p.203, ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11 The bilaterian gut is typically a complete tube that opens to the exterior at both ends. It consists of mouth, foregut, midgut, hindgut, and anus (reference 1); Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut (reference 2).[well established][VHOG] VHOG VHOG:0000290 http://bgee.unil.ch/ primordium AEO:0000171 BTO:0001886 EFO:0001652 EHDAA2:0003171 FBbt:00005495 FMA:86589 MAT:0000482 Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ. This class was created automatically from a combination of ontologies UBERON:0001048 UMLS:C0678727 Wikipedia:Primordium XAO:0003043 bud ncithesaurus:Primordium placode rudiment uberon FBbt:00005495 placode BTO:0001886 FB:DJS FB:FBrf0089570 FB:FBrf0178740 Primordia are populations of contiguous cells that are morphologically distinct and already correspond in extent to a later organ/tissue[FBbt]. An embryonic structure that is the rudiment or commencement of a part or organ. Wikipedia:Primordium hypopharynx BTO:0001740 Bottom part of the pharynx, and is the part of the throat that connects to the esophagus. CALOHA:TS-2020 EFO:0001388 EHDAA2:0004574 EV:0100068 FMA:54880 GAID:338 MA:0001796 MESH:A03.867.490 OpenCyc:Mx4rvq5O0JwpEbGdrcN5Y29ycA SCTID:281490009 The inferior portion of the pharynx, between the epiglottis and the larynx. [TFD][VHOG] UBERON:0001051 UMLS:C0020629 VHOG:0000445 Wikipedia:Hypopharynx http://upload.wikimedia.org/wikipedia/commons/4/4a/Illu_pharynx.jpg hypopharyngeal laryngeal pharynx laryngopharynx ncithesaurus:Hypopharynx pars laryngea pharyngis uberon FMA:54877 laryngopharynx 2012-09-17 The inferior portion of the pharynx, between the epiglottis and the larynx. [TFD][VHOG] VHOG VHOG:0000445 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/hypopharynx VHOG:0000445 Bottom part of the pharynx, and is the part of the throat that connects to the esophagus. Wikipedia:Hypopharynx FMA:54877 laryngeal pharynx Wikipedia:Hypopharynx pars laryngea pharyngis BTO:0001740 pars laryngea pharyngis rectum AAO:0010401 BTO:0001158 CALOHA:TS-1180 EFO:0000848 EHDAA2:0001592 EHDAA:5836 EMAPA:17896 EMAPA:18925 EV:0100081 FMA:14544 GAID:311 MA:0000336 MAT:0000050 MESH:A03.492.411.495.767 MIAA:0000050 OpenCyc:Mx4rvVjaU5wpEbGdrcN5Y29ycA SCTID:181261002 Taxon notes: In the lungfish, sharks and rays the rectum opens into the cloaca which also receives wastes (urine) from the kidneys and material from the reproductive organs. In bony fish the rectum reaches the outside environment through the anus, which is normally situated just in front the urinary and reproductive openings. However in some fish the digestive tract may be curled back on itself, and in the Electric Eel (Electrophorus electricus) the anus is situated in the fish's throat. -- http://www.earthlife.net/fish/digestion.html The terminal portion of the intestine. The terminal portion of the large intestine between the ileo-pelvic colon and the anus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:0001052 UMLS:C0034896 VHOG:0001751 Wikipedia:Rectum XAO:0000238 galen:Rectum http://upload.wikimedia.org/wikipedia/commons/7/75/Anorectum.gif http://upload.wikimedia.org/wikipedia/commons/thumb/7/75/Anorectum.gif/200px-Anorectum.gif intestinum rectum ncithesaurus:Rectum rectal rectal sac terminal portion of intestine terminal portion of large intestine uberon 2012-09-17 The terminal portion of the large intestine between the ileo-pelvic colon and the anus. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0001751 http://bgee.unil.ch/ BTO:0001158 intestinum rectum VHOG:0001751 The terminal portion of the intestine. Wikipedia:Rectum MA neurohemal organ A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system. BTO:0002106 EFO:0000864 FBbt:00005757 MAT:0000212 MIAA:0000212 UBERON:0001053 neurohaemal organ uberon BTO A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system. BTO:0002106 Malpighian tubule BTO:0000810 EFO:0000243 Editor note: this will be ceded to the Arthropod Anatomy Ontology FBbt:00001896 FBbt:00005786 GAID:1228 MAT:0000123 MESH:A13.574 MIAA:0000123 Malphigian tube SCTID:41055008 TADS:0000163 TGMA:0001038 The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the inital section of the rectum[FBbt]. Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs[BTO]. UBERON:0001054 Wikipedia:Malpighian_tubule tuba Malpighii uberon BTO:0000810 Malphigian tube BTO:0000810 tuba Malpighii ISBN:3110148986 The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the inital section of the rectum[FBbt]. Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs[BTO]. Wikipedia:Malpighian_tubule corpus cardiacum BTO:0000432 EFO:0000380 FBbt:00005799 MAT:0000211 MIAA:0000211 One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain. UBERON:0001056 corpora cardiaca uberon will be ceded to arthropod anatomy ontology BTO:0000432 corpora cardiaca BTO:0000432 One of a pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain. http://en.wikipedia.org/wiki/Corpus_cardiacum#Endocrine_system corpus allatum BTO:0000291 EFO:0000379 FBbt:00005800 MAT:0000210 MESH:A08.713.100 MIAA:0000210 One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO]. UBERON:0001057 corpora allata uberon will be ceded to arthropod anatomy ontology BTO:0000291 corpora allata BTO:0000291 One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone)[BTO]. http://en.wikipedia.org/wiki/Corpora_allata mushroom body BTO:0002675 EFO:0000925 FBbt:00005801 GAID:1231 MAT:0000336 MESH:A13.641 MIAA:0000336 Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes. Taxon notes: Also in annelids. "Comparison to the verte- brate pallium reveals that the annelid mushroom bodies develop from similar molecular coordinates within a conserved overall molecular brain topology and that their development involves conserved patterning mechanisms and produces conserved neuron types that existed already in the proto- stome-deuterostome ancestors. These data indicate deep homology of pallium and mushroom bodies and date back the origin of higher brain centers to prebilaterian times" [PMID:20813265] UBERON:0001058 Wikipedia:Mushroom_body corpora pedunculata mushroom bodies uberon FBbt:00005801 corpora pedunculata MESH:A13.641 Prominent lobed neuropils found in annelids and all arthropods except crustaceans. They are thought to be involved in olfactory associative learning and memory[MESH] Mushroom body neuropils are divided into calyces, pedunculus, and its subsequent lobes. In Drosophila these are the alpha, beta, and gamma lobes. Wikipedia:Mushroom_body http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html mushroom bodies pars intercerebralis EFO:0000926 FBbt:00005802 MAT:0000337 MIAA:0000337 UBERON:0001059 a neurosecretory center of the insect brain, located along the anterior midline[wiktionary]. A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons[FBbt]. uberon will be ceded to arthropod anatomy ontology a neurosecretory center of the insect brain, located along the anterior midline[wiktionary]. A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons[FBbt]. http://en.wiktionary.org/wiki/pars_intercerebralis http://flybrain.uni-freiburg.de/Flybrain/html/terms/terms.html FBbt intervertebral disk A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core. BTO:0003625 EFO:0001370 FMA:10446 GAID:105 MA:0000110 MESH:A02.165.410 OpenCyc:Mx4rv11AcpwpEbGdrcN5Y29ycA SCTID:244570000 Taxon/Terminology notes: strictly speaking the term intervertebral disk [applies to intervertebral cartilage] whose gel-like core is nucleus puloposus, by this definition only in mammals UBERON:0001066 UMLS:C0021815 Wikipedia:Intervertebral_disk discus intervertebralis http://upload.wikimedia.org/wikipedia/commons/thumb/9/92/Gray301.png/200px-Gray301.png intervertebral disc intervertebral fibrocartilage ncithesaurus:Intervertebral_Disc spinal disc spinal disk uberon BTO:0003625 spinal disk A pad of fibrocartilage between the articular surfaces of two successive vertebral centra which has nucleus pulposus at its core. ISBN10:0073040584 Wikipedia:Intervertebral_disk FMA:10446 FMA:TA discus intervertebralis Wikipedia:Spinal_disc spinal disc BTO:0003625 intervertebral fibrocartilage external carotid artery AAO:0010416 BTO:0004696 EFO:0001953 EHDAA2:0000461 EMAPA:18611 FMA:10635 GAID:480 In human anatomy, the external carotid artery is a major artery of the head and neck. It arises from the common carotid artery when it bifurcates into the external and internal carotid artery. MA:0001929 MESH:A07.231.114.186.200.210 OpenCyc:Mx4rwVJkPZwpEbGdrcN5Y29ycA SCTID:362044002 Taxon notes: not homologous to the external carotid of zebrafish (Goodrich, 1958) - http://zfish.nichd.nih.gov/zfatlas/Intro%20Page/comparative.html; check XAO UBERON:0001070 UMLS:C0007275 VHOG:0000265 Wikipedia:External_carotid_artery XAO:0000345 arteria carotis externa http://upload.wikimedia.org/wikipedia/commons/1/13/External_carotid_a.gif http://upload.wikimedia.org/wikipedia/commons/thumb/1/13/External_carotid_a.gif/200px-External_carotid_a.gif ncithesaurus:External_Carotid_Artery uberon In human anatomy, the external carotid artery is a major artery of the head and neck. It arises from the common carotid artery when it bifurcates into the external and internal carotid artery. Wikipedia:External_carotid_artery https://sourceforge.net/tracker/?func=detail&aid=3486863&group_id=76834&atid=1127722 VHOG:0000265 Wikipedia:External_carotid_artery arteria carotis externa urine BTO:0001419 CALOHA:TS-1092 EFO:0001939 ENVO:00002047 Excretion in liquid state processed by the kidney.[FMA] FMA:12274 GAID:1189 MA:0002545 MAT:0000058 MESH:A12.207.927 MIAA:0000058 OpenCyc:Mx4rvVjGppwpEbGdrcN5Y29ycA This class was created automatically from a combination of ontologies UBERON:0001088 UMLS:C0042036 Wikipedia:Urine galen:Urine ncithesaurus:Urine uberon Excretion in liquid state processed by the kidney.[FMA] FMA:FMA Wikipedia:Urine diaphragm BTO:0000341 CALOHA:TS-0198 EFO:0000937 EHDAA2:0003495 EMAPA:17701 EV:0100376 FMA:13295 GAID:158 MA:0001904 MAT:0000502 MESH:A02.633.567.900.300 OpenCyc:Mx4rvVivz5wpEbGdrcN5Y29ycA SCTID:181614006 The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO]. The existence of some membrane separating the pharynx from the stomach can be traced widely among the chordates. Thus amphioxus possesses an atrium by which water exits the pharynx, which has been argued (and disputed) to be homologous to structures in ascidians and hagfishes.[3] The urochordate epicardium separates digestive organs from the pharynx and heart, but the anus returns to the upper compartment to discharge wastes through an outgoing siphon (Thoracic_diaphragm#Comparative_anatomy_and_evolution) The mammals are characterized by a diaphragm, which separates the thoracic portion of the body cavity from the abdominal region and assists in drawing air into the lungs and forcing it out. Modern reptiles lack a muscular diaphragm and it is reasonable to suppose that the diaphragm developed as a new device that made possible a large degree of oxygen intake for active animals. The change may have taken place during the transition from reptile to mammal (...).[well established][VHOG] UBERON:0001103 UMLS:C0011980 VHOG:0000713 Wikipedia:Thoracid_diaphragm diaphragm muscle diaphragm of thorax midriff ncithesaurus:Diaphragm phren phrenic thoracic diaphragm uberon FMA BTO:0000341 phren 2012-09-17 ISBN:978-0471384618 Colbert EH, Evolution of the vertebrates: a history of the backboned animals through time (2001) p.278 The mammals are characterized by a diaphragm, which separates the thoracic portion of the body cavity from the abdominal region and assists in drawing air into the lungs and forcing it out. Modern reptiles lack a muscular diaphragm and it is reasonable to suppose that the diaphragm developed as a new device that made possible a large degree of oxygen intake for active animals. The change may have taken place during the transition from reptile to mammal (...).[well established][VHOG] VHOG VHOG:0000713 http://bgee.unil.ch/ Wikipedia:Thoracic_diaphragm#Comparative_anatomy_and_evolution BTO:0000341 diaphragm muscle VHOG:0000713 GO:0060539 The diaphragm is a skeletal muscle that is responsible for contraction and expansion of the lungs[GO]. Wikipedia:Thoracid_diaphragm BTO:0000341 midriff intercostal muscle BTO:0005281 EFO:0001368 EHDAA2:0000841 EHDAA:5988 FMA:13354 GAID:159 Inspiration by active expansion of the thorax evolved later, in the ancestor of reptiles, birds, and mammals. This was powered originally by the intercostal muscles (as in lizards or crocodilians) and later (in mammals only) by a muscular diaphragm.[well established][VHOG] Intercostal muscles are several groups of muscles that run between the ribs, and help form and move the chest wall. There are three principal layers; the external intercostal muscles, which aid in quiet and forced inhalation. They originate on ribs 1-11 and have their insertion on ribs 2-12. The external intercostals are responsible for the elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity. Located around the ribs the internal intercostal muscles, which aid in forced expiration (quiet expiration is a passive process). They originate on ribs 2-12 and have their insertions on ribs 1-11. The internal intercostals are responsible for the depression of the ribs decreasing the transverse dimensions of the thoracic cavity. the innermost intercostal muscle, the deep layers of the internal intercostal muscles which are separated from them by the neurovascular bundle. Both the external and internal muscles are innervated by the intercostal nerves, and are provided by the intercostal arteries and intercostal veins. Their fibers run in opposite directions. [WP,unvetted]. MA:0002324 MESH:A02.633.567.900.500 OpenCyc:Mx4rwQo8QJwpEbGdrcN5Y29ycA SCTID:181746004 This class was created automatically from a combination of ontologies UBERON:0001111 UMLS:C0021724 VHOG:0000903 Wikipedia:Intercostal_muscle http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray411.png http://upload.wikimedia.org/wikipedia/commons/thumb/f/f2/Gray411.png/200px-Gray411.png intercostales ncithesaurus:Intercostal_Muscle respiratory muscle rib muscle uberon 2012-09-17 ISBN:978-0262112789 Kent RD, The MIT Encyclopedia of Communication Disorders (20039 p.56 Inspiration by active expansion of the thorax evolved later, in the ancestor of reptiles, birds, and mammals. This was powered originally by the intercostal muscles (as in lizards or crocodilians) and later (in mammals only) by a muscular diaphragm.[well established][VHOG] VHOG VHOG:0000903 http://bgee.unil.ch/ VHOG:0000903 Intercostal muscles are several groups of muscles that run between the ribs, and help form and move the chest wall. There are three principal layers; the external intercostal muscles, which aid in quiet and forced inhalation. They originate on ribs 1-11 and have their insertion on ribs 2-12. The external intercostals are responsible for the elevation of the ribs, and expanding the transverse dimensions of the thoracic cavity. Located around the ribs the internal intercostal muscles, which aid in forced expiration (quiet expiration is a passive process). They originate on ribs 2-12 and have their insertions on ribs 1-11. The internal intercostals are responsible for the depression of the ribs decreasing the transverse dimensions of the thoracic cavity. the innermost intercostal muscle, the deep layers of the internal intercostal muscles which are separated from them by the neurovascular bundle. Both the external and internal muscles are innervated by the intercostal nerves, and are provided by the intercostal arteries and intercostal veins. Their fibers run in opposite directions. [WP,unvetted]. Wikipedia:Intercostal_muscle pectoral limb scapula AAO:0000751 Alternate definition: A scapula that is connected to a pectoral limb. Taxon notes: present in all tetrapods with even vestiges of anterior limbs, e.g., turtles & birds & mammals. Development notes: chick scapula is of dual origin and segmentally organized[ISBN:978-0-12-319060-4] BTO:0001218 CALOHA:TS-0897 EFO:0001400 EMAPA:18722 FMA:13394 GAID:186 In human anatomy, the scapula, omo (Medical Latin), or shoulder blade, is the bone that connects the humerus (arm bone) with the clavicle (collar bone). The scapula forms the posterior (back) located part of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. [WP,unvetted]. MA:0001330 OpenCyc:Mx4rvVji0JwpEbGdrcN5Y29ycA Paired bony elements of endochondral origin. They are situated at the level of the jaw articulation, in a vertical position, with the suprascapular margin being dorsal and the glenoid end being ventral.[AAO] SCTID:302517007 UBERON:0001124 UMLS:C0036277 VHOG:0001398 Wikipedia:Scapula galen:Scapula http://upload.wikimedia.org/wikipedia/commons/5/59/Pectoral_girdles-en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/5/59/Pectoral_girdles-en.svg/200px-Pectoral_girdles-en.svg.png ncithesaurus:Scapula relationship loss: has pars glenoidalis of scapula (AAO:0000753)[AAO] relationship loss: part_of scapular area (AAO:0000935)[AAO] shoulder blade tetrapod scapula uberon 2012-06-20 AAO AAO:0000751 relationship loss: has pars glenoidalis of scapula (AAO:0000753)[AAO] FMA VHOG:0001398 In human anatomy, the scapula, omo (Medical Latin), or shoulder blade, is the bone that connects the humerus (arm bone) with the clavicle (collar bone). The scapula forms the posterior (back) located part of the shoulder girdle. In humans, it is a flat bone, roughly triangular in shape, placed on a posterolateral aspect of the thoracic cage. [WP,unvetted]. Wikipedia:Scapula 2012-06-20 AAO AAO:0000751 AAO:LAP Paired bony elements of endochondral origin. They are situated at the level of the jaw articulation, in a vertical position, with the suprascapular margin being dorsal and the glenoid end being ventral.[AAO] 2012-06-20 AAO AAO:0000751 relationship loss: part_of scapular area (AAO:0000935)[AAO] dorsum BTO:0001713 CALOHA:TS-2223 EFO:0001405 FMA:14181 GAID:30 MESH:A01.176 OpenCyc:Mx4rvVkEU5wpEbGdrcN5Y29ycA SCTID:123961009 Taxon notes: In humans, called the back, a large posterior area of the human body, rising from the top of the buttocks to the back of the neck and the shoulders. It is the surface opposite to the chest, its height being defined by the vertebral column (commonly referred to as the spine or backbone) and its breadth being supported by the ribcage and shoulders. The spinal canal runs through the spine and provides nerves to the rest of the body The dorsal part of an animal, which in vertebrares includes the vertebral column. [cjm]. UBERON:0001137 UMLS:C0004600 Wikipedia:Dorsum_(anatomy) back back of body proper dorsal dorsal part of organism galen:Back http://upload.wikimedia.org/wikipedia/commons/thumb/e/ee/432px-Gray-back.PNG/200px-432px-Gray-back.PNG ncithesaurus:Back uberon FMA:14181 back FMA:14181 back of body proper The dorsal part of an animal, which in vertebrares includes the vertebral column. [cjm]. UBERONREF:0000006 Wikipedia:Dorsum_(anatomy) caecum BTO:0000166 CALOHA:TS-0122 EFO:0000850 EHDAA2:0000206 EHDAA:3913 EV:0100397 FMA:14541 GAID:307 MA:0000334 MESH:A03.492.411.495.209 MIAA:0000288 OpenCyc:Mx4rve6u4JwpEbGdrcN5Y29ycA Pouch, connecting the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction. SCTID:181256004 Taxon notes: A cecum is present in most amniote species, and also in lungfish, but not in any living species of amphibian. In reptiles, it is usually a single median structure, arising from the dorsal side of the large intestine. Birds typically have two paired ceca, as, unlike other mammals, do hyraxes. Most mammalian herbivores have a relatively large cecum, hosting a large number of bacteria, which aid in the enzymatic breakdown of plant materials such as cellulose; in many species, it is considerably wider than the colon. In contrast, obligatory carnivores, whose diets contain little or no plant material, have a reduced cecum, which is often partially or wholly replaced by the vermiform appendix. Many fish have a number of small outpocketings, called pyloric ceca, along their intestine; despite the name they are not homologous with the cecum of amniotes, and their purpose is to increase the overall area of the digestive epithelium.[2] Some invertebrates, such as squid,[3] may also have structures with the same name, but these have no relationship with those of vertebrates.[WP] Kardong: in some herbivorous lizards, a cecum is present between small and large intestines UBERON:0001153 UMLS:C0007531 VHOG:0001559 Wikipedia:Cecum blind intestine blindgut caeca caecal ceca cecum galen:Cecum http://upload.wikimedia.org/wikipedia/commons/8/82/Stomach_colon_rectum_diagram.svg http://upload.wikimedia.org/wikipedia/commons/thumb/8/82/Stomach_colon_rectum_diagram.svg/200px-Stomach_colon_rectum_diagram.svg.png intestinum caecum intestinum crassum caecum intestinum crassum cecum ncithesaurus:Cecum uberon Wikipedia BTO:0000166 intestinum caecum BTO:0000166 blind intestine NCBITaxon:8782 ceca BTO:0000166 blindgut EHDAA2 Wikipedia MA Pouch, connecting the ileum with the ascending colon of the large intestine. It is separated from the ileum by the ileocecal valve, and is the beginning of the large intestine. It is also separated from the colon by the cecocolic junction. Wikipedia:Cecum NCBITaxon:8782 caeca BTO:0000166 intestinum crassum cecum FMA:14541 cecum VHOG:0001559 vermiform appendix A comparative anatomical approach reveals three apparent morphotypes of the cecal appendix, as well as appendix-like structures in some species that lack a true cecal appendix. Cladistic analyses indicate that the appendix has evolved independently at least twice (at least once in diprotodont marsupials and at least once in Euarchontoglires), shows a highly significant (P < 0.0001) phylogenetic signal in its distribution, and has been maintained in mammalian evolution for 80 million years or longer.[well established][VHOG] BTO:0000084 CALOHA:TS-1267 EFO:0000849 EHDAA2:0000588 EV:0100076 EV:0100080 FMA:14542 GAID:308 MA:0001540 MAT:0000287 MESH:A03.492.411.495.209.290 MIAA:0000287 OpenCyc:Mx4rvVjGgJwpEbGdrcN5Y29ycA Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix[FMA:14542]. SCTID:181255000 UBERON:0001154 UMLS:C0003617 VHOG:0001306 Wikipedia:Vermiform_appendix a blind-ended tube connected to the cecum, from which it develops embryologically[WP]. apex of cecum appendiceal appendix appendix vermiformis caecal appendix cecal appendix galen:AppendixVermiformis http://upload.wikimedia.org/wikipedia/commons/a/ad/Gray536.png http://upload.wikimedia.org/wikipedia/commons/thumb/a/ad/Gray536.png/200px-Gray536.png ncithesaurus:Vermiform_Appendix uberon vermix FMA:14542 Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix[FMA:14542]. VHOG:0001306 apex of cecum Wikipedia FMA:14542 FMA:TA appendix vermiformis Wikipedia:Vermiform_appendix appendix vermiformis MA 2012-09-17 A comparative anatomical approach reveals three apparent morphotypes of the cecal appendix, as well as appendix-like structures in some species that lack a true cecal appendix. Cladistic analyses indicate that the appendix has evolved independently at least twice (at least once in diprotodont marsupials and at least once in Euarchontoglires), shows a highly significant (P < 0.0001) phylogenetic signal in its distribution, and has been maintained in mammalian evolution for 80 million years or longer.[well established][VHOG] DOI:10.1111/j.1420-9101.2009.01809.x Smith HF, Fisher RE, Everett ML, Thomas AD, Randal Bollinger R, Parker W, Comparative anatomy and phylogenetic distribution of the mammalian cecal appendix. Journal of Evolutionary Biology (2009) VHOG VHOG:0001306 http://bgee.unil.ch/ VHOG:0001306 Wikipedia:Vermiform_appendix a blind-ended tube connected to the cecum, from which it develops embryologically[WP]. colon AAO:0010400 Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] BTO:0000269 CALOHA:TS-0158 EFO:0000361 EMAPA:18939 EV:0100079 FMA:14543 GAID:309 Last portion of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body[WP] In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]. In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050120-6'>Wallace et al, 2005.</a> MA:0000335 MAP:0000001 MAT:0000526 MESH:A03.492.411.495.356 OpenCyc:Mx4rvgLEM5wpEbGdrcN5Y29ycA SCTID:302508007 TAO:0000706 TODO: abstract this such that it legitimately covers all vertebrates The last portion of the digestive system, it extracts water and salt from solid wastes before they are eliminated from the body.[AAO] The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. Wallace et al, 2005.[TAO] UBERON:0001155 UMLS:C0009368 VHOG:0000648 Wikipedia:Colon_(anatomy) XAO:0000243 ZFA:0000706 colonic galen:Colon hindgut large bowel ncithesaurus:Colon posterior intestine posterior intestine - zebrafish uberon Last portion of the digestive system in most vertebrates; it extracts water and salt from solid wastes before they are eliminated from the body[WP] In mammals, the colon consists of four sections: the ascending colon, the transverse colon, the descending colon, and the sigmoid colon[WP]. In zebrafish, the posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050120-6'>Wallace et al, 2005.</a> Wikipedia:Colon_(anatomy) ZFIN:curator 2012-06-20 AAO AAO:0010400 The last portion of the digestive system, it extracts water and salt from solid wastes before they are eliminated from the body.[AAO] UBERON:0001155 FMA VHOG:0000648 2012-08-14 TAO TAO:0000706 The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. Wallace et al, 2005.[TAO] ZFIN:curator 2012-09-17 Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11 VHOG VHOG:0000648 http://bgee.unil.ch/ ascending colon BTO:0000270 CALOHA:TS-0057 EFO:0000843 FMA:14545 MA:0001541 MAT:0000311 MIAA:0000311 Note that in MA, this is a subclass of colon OpenCyc:Mx4rv3H0FZwpEbGdrcN5Y29ycA Organ part which is continuous with the cecum proximally and the transverse colon distally.[FMA] SCTID:362162009 UBERON:0001156 UMLS:C0227375 Wikipedia:Ascending_colon colon ascendens galen:AscendingColon http://upload.wikimedia.org/wikipedia/commons/3/3b/Dickdarm-Schema.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/3b/Dickdarm-Schema.svg/200px-Dickdarm-Schema.svg.png ncithesaurus:Ascending_Colon spiral colon uberon Wikipedia Wikipedia:Ascending_colon colon ascendens Wikipedia:Spiral_colon spiral colon FMA:FMA Organ part which is continuous with the cecum proximally and the transverse colon distally.[FMA] Wikipedia:Ascending_colon transverse colon BTO:0000272 CALOHA:TS-2052 EFO:0000844 FMA:14546 MA:0001543 MAT:0000312 MIAA:0000312 OpenCyc:Mx4rvg7qyJwpEbGdrcN5Y29ycA SCTID:362163004 The transverse colon the longest and most movable part of the colon, passes with a downward convexity from the right hypochondrium region across the abdomen, opposite the confines of the epigastric and umbilical zones, into the left hypochondrium region, where it curves sharply on itself beneath the lower end of the spleen, forming the splenic or left colic flexure. The right colic flexure is adjacent to the liver. In its course, it describes an arch, the concavity of which is directed backward and a little upward; toward its splenic end there is often an abrupt U-shaped curve which may descend lower than the main curve. It is almost completely invested by peritoneum, and is connected to the inferior border of the pancreas by a large and wide duplicature of that membrane, the transverse mesocolon. It is in relation, by its upper surface, with the liver and gall-bladder, the greater curvature of the stomach, and the lower end of the spleen; by its under surface, with the small intestine; by its anterior surface, with the anterior layers of the greater omentum and the abdominal parietes; its posterior surface is in relation from right to left with the descending portion of the duodenum, the head of the pancreas, and some of the convolutions of the jejunum and ileum. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001157 UMLS:C0227386 Wikipedia:Transverse_colon colon transversum galen:TransverseColon http://upload.wikimedia.org/wikipedia/commons/3/3b/Dickdarm-Schema.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/3b/Dickdarm-Schema.svg/200px-Dickdarm-Schema.svg.png ncithesaurus:Transverse_Colon uberon Wikipedia Wikipedia:Transverse_colon colon transversum The transverse colon the longest and most movable part of the colon, passes with a downward convexity from the right hypochondrium region across the abdomen, opposite the confines of the epigastric and umbilical zones, into the left hypochondrium region, where it curves sharply on itself beneath the lower end of the spleen, forming the splenic or left colic flexure. The right colic flexure is adjacent to the liver. In its course, it describes an arch, the concavity of which is directed backward and a little upward; toward its splenic end there is often an abrupt U-shaped curve which may descend lower than the main curve. It is almost completely invested by peritoneum, and is connected to the inferior border of the pancreas by a large and wide duplicature of that membrane, the transverse mesocolon. It is in relation, by its upper surface, with the liver and gall-bladder, the greater curvature of the stomach, and the lower end of the spleen; by its under surface, with the small intestine; by its anterior surface, with the anterior layers of the greater omentum and the abdominal parietes; its posterior surface is in relation from right to left with the descending portion of the duodenum, the head of the pancreas, and some of the convolutions of the jejunum and ileum. [WP,unvetted]. Wikipedia:Transverse_colon descending colon BTO:0000641 CALOHA:TS-2010 EFO:0000845 FMA:14547 MA:0001542 MAT:0000313 MIAA:0000313 OpenCyc:Mx4rwHsNhpwpEbGdrcN5Y29ycA SCTID:362165006 The descending colon of humans passes downward through the left hypochondrium and lumbar regions, along the lateral border of the left kidney. At the lower end of the kidney it turns medialward toward the lateral border of the psoas muscle, and then descends, in the angle between psoas and quadratus lumborum, to the crest of the ilium, where it ends in the sigmoid colon. The peritoneum covers its anterior surface and sides, and therefore the descending colon is described as retroperitoneal. (The transverse colon and sigmoid colon, which are immediately proximal and distal, are intraperitoneal). Its posterior surface is connected by areolar tissue with the lower and lateral part of the left kidney, the aponeurotic origin of the transversus abdominis, and the quadratus lumborum. It is smaller in caliber and more deeply placed than the ascending colon. It has a mesentery in 33% of people, and is therefore more frequently covered with peritoneum on its posterior surface than the ascending colon (which has a mesentery in 25% of people). However, it is less likely to undergo volvulus than the ascending colon. In front of it are some coils of small intestine. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001158 UMLS:C0227389 Wikipedia:Descending_colon colon descendens galen:DescendingColon http://upload.wikimedia.org/wikipedia/commons/c/ca/Gray1223.png http://upload.wikimedia.org/wikipedia/commons/thumb/c/ca/Gray1223.png/200px-Gray1223.png ncithesaurus:Descending_Colon uberon Wikipedia:Descending_colon colon descendens The descending colon of humans passes downward through the left hypochondrium and lumbar regions, along the lateral border of the left kidney. At the lower end of the kidney it turns medialward toward the lateral border of the psoas muscle, and then descends, in the angle between psoas and quadratus lumborum, to the crest of the ilium, where it ends in the sigmoid colon. The peritoneum covers its anterior surface and sides, and therefore the descending colon is described as retroperitoneal. (The transverse colon and sigmoid colon, which are immediately proximal and distal, are intraperitoneal). Its posterior surface is connected by areolar tissue with the lower and lateral part of the left kidney, the aponeurotic origin of the transversus abdominis, and the quadratus lumborum. It is smaller in caliber and more deeply placed than the ascending colon. It has a mesentery in 33% of people, and is therefore more frequently covered with peritoneum on its posterior surface than the ascending colon (which has a mesentery in 25% of people). However, it is less likely to undergo volvulus than the ascending colon. In front of it are some coils of small intestine. [WP,unvetted]. Wikipedia:Descending_colon sigmoid colon BTO:0000645 CALOHA:TS-2044 EFO:0000846 FMA:14548 MAT:0000314 MESH:A03.492.411.495.356.668 MIAA:0000314 OpenCyc:Mx4rwHX_-5wpEbGdrcN5Y29ycA SCTID:362166007 This class was created automatically from a combination of ontologies UBERON:0001159 UMLS:C0227391 UMLS:C0682612 Wikipedia:Sigmoid_colon colon sigmoideum galen:SigmoidColon http://upload.wikimedia.org/wikipedia/commons/3/3b/Dickdarm-Schema.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/3b/Dickdarm-Schema.svg/200px-Dickdarm-Schema.svg.png ncithesaurus:Sigmoid_Colon ncithesaurus:Sigmoid_Flexure pelvic colon sigmoid colon sigmoid flexure the part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity. uberon Wikipedia:Sigmoid_colon the part of the large intestine that is closest to the rectum and anus. It forms a loop that averages about 40 cm. in length, and normally lies within the pelvis, but on account of its freedom of movement it is liable to be displaced into the abdominal cavity. Wikipedia:Sigmoid_colon colon sigmoideum fundus of stomach Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] BTO:0000502 EFO:0002554 EHDAA2:0001919 EHDAA:4844 FMA:14559 GAID:320 MA:0001612 MESH:A03.492.766.419 SCTID:362139007 The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]. The greater curvature of the stomach. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:0001160 UMLS:C0017129 VHOG:0000421 Wikipedia:Fundus_%28stomach%29 fundus gastricus fundus gastricus (ventricularis) fundus gastricus ventricularis fundus ventricularis fundus ventriculi galen:GastricFundus gastric fundus http://upload.wikimedia.org/wikipedia/commons/3/31/Gray1046.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/31/Gray1046.svg/200px-Gray1046.svg.png ncithesaurus:Fundus_of_the_Stomach stomach fundus uberon 2012-09-17 The greater curvature of the stomach. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000421 http://bgee.unil.ch/ BTO:0000502 fundus ventricularis 2012-09-17 Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11 VHOG VHOG:0000421 http://bgee.unil.ch/ BTO:0000502 fundus gastricus ventricularis GO:0014825 ISBN10:0073040584 The fundus is the portion of the stomach that lies above the cardiac notch, and contains the fundic glands[GO, Kardong]. Wikipedia:Fundus_%28stomach%29 BTO:0000502 fundus gastricus VHOG:0000421 BTO:0000502 fundus ventriculi pyloric antrum BTO:0001732 EFO:0002555 EMAPA:17891 EMAPA:18919 FMA:14579 GAID:332 MA:0001624 MESH:A03.492.766.716 Pyloric antrum (antrum, lesser cul-de-sac) is the initial portion of the pyloric part of the stomach. It is near the bottom of the stomach on the left side of the pyloric sphincter, which separates the stomach and the duodenum. It may temporarily become partially or completely shut off from the remainder of the stomach during digestion by peristaltic contraction of the prepyloric sphincter; it is demarcated, sometimes, from the second part of the pyloric part of the stomach by a slight groove. [WP,unvetted]. SCTID:362142001 UBERON:0001165 UMLS:C0034193 Wikipedia:Pyloric_antrum antrum antrum of Willis antrum of stomach antrum pylori antrum pyloricum galen:PyloricAntrum gastric antrum http://upload.wikimedia.org/wikipedia/commons/3/31/Gray1046.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/31/Gray1046.svg/200px-Gray1046.svg.png ncithesaurus:Antrum_Pylori stomach antrum stomach pyloric antrum uberon BTO:0001732 antrum pyloricum Wikipedia:Pyloric_antrum antrum pyloricum BTO:0001732 antrum pylori BTO:0001732 gastric antrum Pyloric antrum (antrum, lesser cul-de-sac) is the initial portion of the pyloric part of the stomach. It is near the bottom of the stomach on the left side of the pyloric sphincter, which separates the stomach and the duodenum. It may temporarily become partially or completely shut off from the remainder of the stomach during digestion by peristaltic contraction of the prepyloric sphincter; it is demarcated, sometimes, from the second part of the pyloric part of the stomach by a slight groove. [WP,unvetted]. Wikipedia:Pyloric_antrum BTO:0001732 antrum of Willis renal artery AAO:0010223 Artery which supplies blood via branches to the gonads, oviducts, and kidneys.[AAO] BTO:0001165 EFO:0002552 EHDAA2:0004100 EHDAA:5321 EHDAA:8594 EMAPA:17862 EMAPA:28373 Editor notes: renal arteries vary widely even in humans. Sub-structures should be checked for taxon variability. FMA:14751 GAID:507 MA:0002035 MESH:A07.231.114.745 One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. OpenCyc:Mx4rveOFHpwpEbGdrcN5Y29ycA RETIRED_EHDAA2:0001600 SCTID:181339005 TAO:0000420 The renal arteries normally arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood. Each is directed across the crus of the diaphragm, so as to form nearly a right angle with the aorta. The renal arteries carry a large portion of total blood flow to the kidneys. Up to a third of total cardiac output can pass through the renal arteries to be filtered by the kidneys. The arterial supply of the kidneys is variable and there may be one or more renal arteries supplying each kidney. It is located above the renal vein. It has a radius of approximately 0.25cm, 0.26 cm at the root. The measured mean diameter can differ depending on the imaging method used. For example, the diameter was found to be 5.04 ± 0.74 mm using ultrasound, but 5.68 ± 1.19 mm using angiography. [WP,unvetted].[Wikipedia] UBERON:0001184 UMLS:C0035065 Wikipedia:Renal_artery ZFA:0000420 arteria renalis galen:RenalArtery http://upload.wikimedia.org/wikipedia/commons/d/da/Gray1120.png http://upload.wikimedia.org/wikipedia/commons/thumb/d/da/Gray1120.png/200px-Gray1120.png ncithesaurus:Renal_Artery renal arterial tree renal arteries uberon renal arteries 2012-06-20 AAO AAO:0010223 AAO:BJB Artery which supplies blood via branches to the gonads, oviducts, and kidneys.[AAO] The renal arteries normally arise off the side of the abdominal aorta, immediately below the superior mesenteric artery, and supply the kidneys with blood. Each is directed across the crus of the diaphragm, so as to form nearly a right angle with the aorta. The renal arteries carry a large portion of total blood flow to the kidneys. Up to a third of total cardiac output can pass through the renal arteries to be filtered by the kidneys. The arterial supply of the kidneys is variable and there may be one or more renal arteries supplying each kidney. It is located above the renal vein. It has a radius of approximately 0.25cm, 0.26 cm at the root. The measured mean diameter can differ depending on the imaging method used. For example, the diameter was found to be 5.04 ± 0.74 mm using ultrasound, but 5.68 ± 1.19 mm using angiography. [WP,unvetted].[Wikipedia] Wikipedia Wikipedia:Renal_artery ISBN10:0073040584 One of two laterally paired arteries that supplies the kidneys. These are large arteries that branch from the dorsal aorta in primitive vertebrates. Wikipedia:Renal_artery Wikipedia:Renal_artery arteria renalis Peyer's patch AO notes: FMA has [set of?] [aggregated,small] lymphoid [follice,nodule] of [colon, SI, I, etc] - Pp is a syn for Aggregated lymphoid follicle of small intestine; but MA uses Pp as covering both SI and LI. MA also includes follicle as a part. WP says duodenum and jejunum lack PPs. Taxon notes: Reptiles have accumulations of lymphocytes in their guts that may be primitive Peyer's patches (Zapata and Solas). BTO:0001784 CALOHA:TS-0780 EFO:0001381 EMAPA:19028 GAID:950 MA:0000137 MESH:A10.549.598 UBERON:0001211 UMLS:C0031272 Wikipedia:Peyer's_patch aggregated lymphoid follicle of intestine aggregated lymphoid nodule aggregations of lymphoid tissue that are usually found in the lowest portion of the small intestine ileum in humans; as such, they differentiate the ileum from the duodenum and jejunum // nodular lymphoid structures on the serosal surface of the small intestine. ncithesaurus:Mouse_Peyer_s_Patches ncithesaurus:Peyer_s_Patch noduli lymphoidei aggregati intestini tenuis uberon FMA:76466 FMA:TA noduli lymphoidei aggregati intestini tenuis Wikipedia:Peyer's_patch aggregations of lymphoid tissue that are usually found in the lowest portion of the small intestine ileum in humans; as such, they differentiate the ileum from the duodenum and jejunum // nodular lymphoid structures on the serosal surface of the small intestine. nephron tubule An epithelial tube that is part of the nephron, the functional part of the kidney. BTO:0000343 CALOHA:TS-1262 EFO:0003666 EMAPA:27782 EV:0100387 FMA:15627 GAID:433 MA:0000377 MESH:A05.810.453.736.560 SCTID:361332007 TAO:0001287 UBERON:0001231 UBERON:0004210 UMLS:C0022674 Wikipedia:Renal_tubule ZFA:0001287 kidney tubule ncithesaurus:Renal_Tubule note that in ISBN10:0073040584 "Vertebrates, Kardong", the uriniferous tubule contains the nephron, so we have a separate class, rather than using a synonym, as in MA renal tubule tubulus renalis uberon uriniferous tubule MA:0000377 uriniferous tubule GAID:433 kidney tubule An epithelial tube that is part of the nephron, the functional part of the kidney. GO:0072078 Wikipedia:Renal_tubule adrenal cortex AAO:0011009 All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] BTO:0000045 CALOHA:TS-0015 EFO:0000237 EMAPA:18427 EV:0100136 FMA:15632 GAID:447 MA:0000118 MAT:0000494 MESH:A06.407.071.140 SCTID:362584002 Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, including aldosterone and cortisol respectively. It is also a secondary site of androgen synthesis. [WP,unvetted]. Taxon notes: Kardong states that mammals are the first to have distinct cortext and medulla, but this contradicts XAO UBERON:0001235 UMLS:C0001613 VHOG:0001481 Wikipedia:Adrenal_cortex XAO:0000165 adrenal gland cortex cortex (glandula suprarenalis) cortex glandulae suprarenalis cortex of adrenal gland cortex of suprarenal gland http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray1185.png http://upload.wikimedia.org/wikipedia/commons/thumb/5/5c/Gray1185.png/200px-Gray1185.png ncithesaurus:Adrenal_Cortex suprarenal suprarenal cortex uberon 2012-09-17 All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.518 and Figure 15-9 VHOG VHOG:0001481 http://bgee.unil.ch/ BTO:0000045 cortex glandulae suprarenalis VHOG:0001481 Wikipedia Wikipedia:Adrenal_cortex cortex glandulae suprarenalis Situated along the perimeter of the adrenal gland, the adrenal cortex mediates the stress response through the production of mineralocorticoids and glucocorticoids, including aldosterone and cortisol respectively. It is also a secondary site of androgen synthesis. [WP,unvetted]. Wikipedia:Adrenal_cortex adrenal medulla AAO:0011010 All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] BTO:0000049 CALOHA:TS-0018 EFO:0000852 EMAPA:18428 EV:0100137 FMA:15633 GAID:451 MA:0000119 MAT:0000495 MESH:A06.224.161 SCTID:362585001 The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of cells that secrete epinephrine, norepinephrine, and a small amount of dopamine in response to stimulation by sympathetic preganglionic neurons. Composed mainly of hormone-producing chromaffin cells, the adrenal medulla is the principal site of the conversion of the amino acid tyrosine into the catecholamines adrenaline (epinephrine), noradrenaline (norepinephrine), and dopamine[WP,unvetted]. UBERON:0001236 UMLS:C0001629 VHOG:0001378 Wikipedia:Adrenal_medulla XAO:0000166 adrenal central medulla adrenal gland medulla chromaffin cells http://upload.wikimedia.org/wikipedia/commons/5/5c/Gray1185.png http://upload.wikimedia.org/wikipedia/commons/thumb/5/5c/Gray1185.png/200px-Gray1185.png medulla (glandula suprarenalis) medulla glandulae suprarenalis medulla of adrenal gland medulla of glandula suprarenalis medulla of suprarenal gland ncithesaurus:Adrenal_Medulla suprarenal medulla uberon OBOL:automatic medulla of adrenal gland The adrenal medulla is part of the adrenal gland. It is located at the center of the gland, being surrounded by the adrenal cortex. It is the innermost part of the adrenal gland, consisting of cells that secrete epinephrine, norepinephrine, and a small amount of dopamine in response to stimulation by sympathetic preganglionic neurons. Composed mainly of hormone-producing chromaffin cells, the adrenal medulla is the principal site of the conversion of the amino acid tyrosine into the catecholamines adrenaline (epinephrine), noradrenaline (norepinephrine), and dopamine[WP,unvetted]. Wikipedia:Adrenal_medulla BTO:0000049 medulla of glandula suprarenalis 2012-09-17 All craniates have groups of cells homologous to the mammalian adrenocortical and chromaffin tissues (medulla), but they are scattered in and near the kidneys in fishes. (...) The cortical and chromaffin tissues come together to form adrenal glands in tetrapods.[well established][VHOG] ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.518 and Figure 15-9 VHOG VHOG:0001378 http://bgee.unil.ch/ FMA:15633 FMA:TA medulla glandulae suprarenalis VHOG:0001378 urinary bladder A saccular organ in which urine accumulates before discharge from the body. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] AAO:0000623 Anatomical structure which consists of a membranous sac used to temporarily store urine until it is excreted from the body.[AAO] BTO:0001418 CALOHA:TS-1090 EFO:0000290 EHDAA2:0000174 EHDAA:9328 EMAPA:18321 EV:0100098 FMA:15900 GAID:0000004 In tetrapods, the urinary bladder arises as an outpocketing of the cloaca. (...) The tetrapod urinary bladder appears first among amphibians and is present in Sphenodon, turtles, most lizards, ostriches among birds, and all mammals.[well established][VHOG] MA:0000380 MAT:0000122 MESH:A05.810.161 MIAA:0000122 OpenCyc:Mx4rvVjMmZwpEbGdrcN5Y29ycA SCTID:302512001 UBERON:0001255 UMLS:C0005682 VHOG:0000740 Wikipedia:Urinary_bladder XAO:0000154 bladder distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. galen:UrinaryBladder http://upload.wikimedia.org/wikipedia/commons/3/30/Urinary_system.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/30/Urinary_system.svg/200px-Urinary_system.svg.png ncithesaurus:Bladder uberon urocyst vesica urinaria MGI:anna Wikipedia:Urinary_bladder distensible musculomembranous organ situated in the anterior part of the pelvic cavity in which urine collects before excretion[MP]. Wikipedia:Urinary_bladder vesica urinaria 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.577-78 In tetrapods, the urinary bladder arises as an outpocketing of the cloaca. (...) The tetrapod urinary bladder appears first among amphibians and is present in Sphenodon, turtles, most lizards, ostriches among birds, and all mammals.[well established][VHOG] VHOG VHOG:0000740 http://bgee.unil.ch/ VHOG:0000740 2012-06-20 AAO AAO:0000623 AAO:BJB Anatomical structure which consists of a membranous sac used to temporarily store urine until it is excreted from the body.[AAO] Wikipedia:Urinary_bladder urocyst 2012-09-17 A saccular organ in which urine accumulates before discharge from the body. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] VHOG VHOG:0000740 http://bgee.unil.ch/ pancreas AAO:0010112 An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 1–2% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans[PMID]. BTO:0000988 CALOHA:TS-0736 EFO:0000855 EHDAA2:0001367 EHDAA:6893 EMAPA:17503 EMAPA:18816 EV:0100092 FMA:7198 GAID:334 In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG] MA:0000120 MAT:0000075 MESH:A03.734 MIAA:0000075 OpenCyc:Mx4rvVimZZwpEbGdrcN5Y29ycA Organ which secretes a fluid containing enzymes that aid in the digestion of food.[AAO] SCTID:181277001 TAO:0000140 UBERON:0001264 UMLS:C0030274 VHOG:0000050 Wikipedia:Pancreas XAO:0000136 ZFA:0000140 galen:Pancreas http://upload.wikimedia.org/wikipedia/commons/3/3f/Illu_pancrease.svg http://upload.wikimedia.org/wikipedia/commons/thumb/3/3f/Illu_pancrease.svg/200px-Illu_pancrease.svg.png ncithesaurus:Pancreas pancreatic taxon notes: As a secretory organ serving exocrine and endocrine functions, the pancreas is specific to the vertebrates[PMID:16417468] Hagfishes and lampreys are unique in the complete separation of their endocrine pancreas (islet or- gan) and their exocrine pancreas (50). The endocrine and exocrine pancreas are coassociated in crown gnathostomes (50). In Branchiostoma and Ciona, there is no diverticulum as there is in hagfishes, lampreys, and gnathostomes, only dispersed insulin-secreting cells in the walls of the gastrointestinal tract (51, 52) [PMID:20959416]. The zebrafish does not have a discrete pancreas. Exocrine pancreatic tissue can be found scattered along the intestinal tract (Figures 16 and 17 ). The acinar structure of the exocrine pancreas is very similar to that of mammals and comprises cells with a very dark, basophilic cytoplasm uberon 2012-06-20 AAO AAO:0010112 AAO:BJB Organ which secretes a fluid containing enzymes that aid in the digestion of food.[AAO] VHOG:0000050 An endoderm derived structure that produces precursors of digestive enzymes and blood glucose regulating enzymes[GO]. The mature pancreas of higher vertebrates and mammals comprises two major functional units: the exocrine pancreas, which is responsible for the production of digestive enzymes to be secreted into the gut lumen, and the endocrine pancreas, which has its role in the synthesis of several hormones with key regulatory functions in food uptake and metabolism. The exocrine portion constitutes the majority of the mass of the pancreas, and contains only two different cell types, the secretory acinar cells and the ductular cells. The endocrine portion, which comprises only 1–2% of the total mass, contains five different cell types, which are organized into mixed functional assemblies referred to as the islets of Langerhans[PMID]. GO:0031016 PMID:16417468 Wikipedia:Pancreas 2012-09-17 DOI:10.1016/j.crvi.2007.03.006 Madsen OD, Pancreas phylogeny and ontogeny in relation to a 'pancreatic stem cell'. C.R. Biologies (2007) In the hagfish and lampreys (our most primitive vertebrate species of today), the first sign of 'a new organ' is found as collections of endocrine cells around the area of the bile duct connection with the duodenum. These endocrine organs are composed of 99% beta cells and 1% somatostatin-producing delta cells. Compared to the more primitive protochordates (e.g. amphioxus), this represents a stage where all previously scattered insulin-producing cells of the intestinal tissue have now quantitatively migrated to found a new organ involved in sensing blood glucose rather than gut glucose. Only later in evolution, the beta cells are joined by exocrine tissue and alpha cells (exemplified by the rat-, rabbit- and elephant-fishes). Finally, from sharks and onwards in evolution, we have the islet PP-cell entering to complete the pancreas.[well established][VHOG] VHOG VHOG:0000050 http://bgee.unil.ch/ ilium AAO:0000772 CALOHA:TS-2200 EFO:0003049 FMA:16589 GAID:207 MA:0001336 MESH:A02.835.232.611.434 Note that this is_a hip bone in MA. Taxon notes: All reptiles have an ilium except snakes, although some snake species have a tiny bone which is considered to be an ilium[WP] OpenCyc:Mx4rvhwFJ5wpEbGdrcN5Y29ycA Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]. Paired, rodlike endochondral bones that constitute the anterior pelvic girdle.[AAO] SCTID:182029005 UBERON:0001273 UMLS:C0020889 Wikipedia:Ilium_(bone) galen:Ilium iliac ilium bone illium ncithesaurus:Ilium os iliacum os ilii uberon 2012-06-20 AAO AAO:0000772 AAO:LAP Paired, rodlike endochondral bones that constitute the anterior pelvic girdle.[AAO] PHENOSCAPE:ad Paired endochondral bone that is the dorsal-most of the pelvic bones, offering attachment areas for gluteal muscles on its main surface [PHENOSCAPE:ad]. Wikipedia Wikipedia intestinal epithelium Simple columnar epithelium that lines the intestine, sometimes pseudostratified, with absorptive brush-border cells and mucous goblet cells clearly visible. Crosnier et al. 2005[TAO] The innermost membrane of the four coats of the intestinal wall, the other three being the submucosa, muscular layers, and serosa. (Berk et al., Gastroenterology, 4th ed, v.3, p1479) BTO:0000781 EMAPA:32873 FMA:17229 MA:0001536 SCTID:266135004 TAO:0005124 UBERON:0001277 UMLS:C0226890 Wikipedia:Intestinal_epithelium ZFA:0005124 bowel epithelial tissue bowel epithelium epithelial tissue of bowel epithelial tissue of intestine epithelium of bowel epithelium of intestine intestine epithelial tissue intestine epithelium ncithesaurus:Intestinal_Epithelium uberon villous epithelium endometrium BTO:0001422 CALOHA:TS-0276 EFO:0000980 EMAPA:29917 EV:0100115 FMA:17742 GAID:377 MA:0000390 MAT:0000319 MESH:A05.360.319.679.490 MIAA:0000319 SCTID:278867007 Taxon notes: nimals that have estrous cycles reabsorb the endometrium if conception does not occur during that cycle. Animals that have menstrual cycles shed the endometrium through menstruation instead. AO notes: in FMA this is subdivided into basal and outer. In MA there is a single child term, endometrium epithelium The maternal part of the placenta (of eutherian mammals) is the vascularized and glandular uterine lining, or endometrium.[well established][VHOG] The mucous membrane lining the uterus. [TFD][VHOG] UBERON:0001295 UMLS:C0014180 VHOG:0001285 Wikipedia:Endometrium endometrial http://upload.wikimedia.org/wikipedia/commons/6/66/Illu_cervix.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/6/66/Illu_cervix.jpg/200px-Illu_cervix.jpg inner mucous membrane of the mammalian uterus. ncithesaurus:Endometrium tunica mucosa (endometrium) tunica mucosa uteri uberon uterine endometrium FMA:17742 tunica mucosa (endometrium) BTO:0001422 uterine endometrium Wikipedia:Endometrium inner mucous membrane of the mammalian uterus. 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.144 The maternal part of the placenta (of eutherian mammals) is the vascularized and glandular uterine lining, or endometrium.[well established][VHOG] VHOG VHOG:0001285 http://bgee.unil.ch/ Wikipedia:Endometrium tunica mucosa uteri VHOG:0001285 2012-09-17 The mucous membrane lining the uterus. [TFD][VHOG] VHOG VHOG:0001285 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/Endometrium myometrium BTO:0000907 CALOHA:TS-0652 EFO:0001970 EMAPA:29923 EV:0100116 FMA:17743 GAID:171 In all mammals, the uterus develops as a specialization of the paramesonephric or Müllerian ducts, which gives rise to the infundibula, oviducts, uterus, cervix, and anterior vagina. Morphogenetic events common to development of all uteri include: 1) differentiation and growth of the myometrium, 2) differentiation and morphogenesis of the endometrial glands, and 3) organization and stratification of endometrial stroma. Uterine development is initiated in the fetus, but is only completed postnatally with differentiation and development of the endometrial glands.[well established][VHOG] MA:0000391 MESH:A02.633.570.500 MeSH:D009215 SCTID:279879004 The inner layer of the uterine wall is the endometrium or uterine lining, and the outer layer the serosa or perimetrium. The myometrium stretches (the smooth muscle cells expand in both size and number[1]) during pregnancy to allow for the harboring of the pregnancy, and contracts in a coordinated fashion during the process of labor. After delivery the myometrium contracts to expel the placenta and reduce blood loss. The muscular wall of the uterus. [TFD][VHOG] UBERON:0001296 UMLS:C0027088 VHOG:0001281 Wikipedia:Myometrium http://upload.wikimedia.org/wikipedia/commons/6/66/Illu_cervix.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/6/66/Illu_cervix.jpg/200px-Illu_cervix.jpg middle layer of the uterine wall consisting of smooth muscle cells and supporting stromal and vascular tissue. myometrial ncithesaurus:Myometrium tunica muscularis tunica muscularis (myometrium) uberon uterine smooth muscle 2012-09-17 The muscular wall of the uterus. [TFD][VHOG] VHOG VHOG:0001281 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/myometrium Wikipedia:Myometrium middle layer of the uterine wall consisting of smooth muscle cells and supporting stromal and vascular tissue. VHOG:0001281 Wikipedia:Myometrium tunica muscularis 2012-09-17 In all mammals, the uterus develops as a specialization of the paramesonephric or Müllerian ducts, which gives rise to the infundibula, oviducts, uterus, cervix, and anterior vagina. Morphogenetic events common to development of all uteri include: 1) differentiation and growth of the myometrium, 2) differentiation and morphogenesis of the endometrial glands, and 3) organization and stratification of endometrial stroma. Uterine development is initiated in the fetus, but is only completed postnatally with differentiation and development of the endometrial glands.[well established][VHOG] PMID:15471813 Spencer TE, Bazer FW, Uterine and placental factors regulating conceptus growth in domestic animals. Journal of Animal Science (2004) VHOG VHOG:0001281 http://bgee.unil.ch/ epididymis A narrow, tightly-coiled tube connecting the efferent ducts from the rear of each testicle to its vas deferens. BTO:0000408 CALOHA:TS-0285 EFO:0000982 EMAPA:19290 EV:0100103 FMA:18255 GAID:397 MA:0000397 MAT:0000130 MESH:A05.360.444.849.286 MIAA:0000130 SCTID:181432000 Taxon notes: A similar, but probably non-homologous, structure is found in cartilaginous fishes[WP]. Kardong has epididymis in elasmobranch.Structures notes: Typically divided into three main regions. In reptiles, there is an additional canal between the testis and the head of the epididymis, which receives the various efferent ducts. This is, however, absent in all birds and mammals. The epididymis is covered by a two layered pseudostratified epithelium. The epithelium is separated by a basement membrane from the connective tissue wall which has smooth muscle cells. UBERON:0001301 UMLS:C0014533 VHOG:0001265 Wikipedia:Epididymis epididymal epididymus galen:Epididymis http://upload.wikimedia.org/wikipedia/commons/c/c3/Illu_testis_surface.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/c/c3/Illu_testis_surface.jpg/200px-Illu_testis_surface.jpg ncithesaurus:Epididymis uberon A narrow, tightly-coiled tube connecting the efferent ducts from the rear of each testicle to its vas deferens. Wikipedia:Epididymis VHOG:0001265 sciatic nerve BTO:0001221 CALOHA:TS-0899 EFO:0001417 EHDAA2:0001779 EHDAA:5659 EMAPA:18577 FMA:19034 GAID:852 MA:0001172 MESH:A08.800.800.720.450.760 NIF_GrossAnatomy:birnlex_1133 OpenCyc:Mx4rv7MlDJwpEbGdrcN5Y29ycA SCTID:181050003 Taxon notes: mouse sciatic nerve origins predominantly from the third lumbar (L3) and L4 spinal nerves, unlike the L4 and L5 in rats - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700063/ The sciatic nerve (also known as the ischiatic nerve) is a large nerve in humans and other animals. It begins in the lower back and runs through the buttock and down the lower limb. It is the longest and widest single nerve in the human body. The sciatic supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. In humans, it is derived from spinal nerves L4 through S3. It contains fibres from both the anterior and posterior divisions of the lumbosacral plexus. [WP,edited]. UBERON:0001322 UMLS:C0036394 VHOG:0000894 Wikipedia:Sciatic_nerve http://upload.wikimedia.org/wikipedia/commons/3/3a/Gray1244.png http://upload.wikimedia.org/wikipedia/commons/thumb/3/3a/Gray1244.png/200px-Gray1244.png ischiadic nerve ischiatic nerve ncithesaurus:Sciatic_Nerve nervus ischiadicus nervus sciaticus uberon BTO:0001221 nervus ischiadicus The sciatic nerve (also known as the ischiatic nerve) is a large nerve in humans and other animals. It begins in the lower back and runs through the buttock and down the lower limb. It is the longest and widest single nerve in the human body. The sciatic supplies nearly the whole of the skin of the leg, the muscles of the back of the thigh, and those of the leg and foot. In humans, it is derived from spinal nerves L4 through S3. It contains fibres from both the anterior and posterior divisions of the lumbosacral plexus. [WP,edited]. Wikipedia:Sciatic_nerve Wikipedia:Sciatic_nerve ischiadic nerve Wikipedia:Sciatic_nerve nervus ischiadicus VHOG:0000894 BTO:0001221 nervus sciaticus Wikipedia:Sciatic_nerve ischiatic nerve prepuce of penis BTO:0001113 CALOHA:TS-0383 EFO:0001664 EMAPA:18989 EV:0100109 FMA:19639 In male human anatomy, the foreskin is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. It is also described as the prepuce, a technically broader term that also includes the clitoral hood in women, to which the foreskin is embryonically homologous. [WP,unvetted]. MA:0000407 OpenCyc:Mx4rvVjlTZwpEbGdrcN5Y29ycA SCTID:181426005 UBERON:0001332 UMLS:C0227952 Wikipedia:Foreskin foreskin http://upload.wikimedia.org/wikipedia/commons/e/e6/Foreskin_CloseupV2.jpg http://upload.wikimedia.org/wikipedia/en/thumb/c/cc/Foreskin2.jpg/200px-Foreskin2.jpg ncithesaurus:Male_Prepuce penile prepuce praeputium prepuce prepuce of male prepucium preputium uberon Wikipedia:Foreskin praeputium HP:0100587 preputium In male human anatomy, the foreskin is a retractable double-layered fold of skin and mucous membrane that covers the glans penis and protects the urinary meatus when the penis is not erect. It is also described as the prepuce, a technically broader term that also includes the clitoral hood in women, to which the foreskin is embryonically homologous. [WP,unvetted]. Wikipedia:Foreskin MA:0000407 Wikipedia:Foreskin prepuce EMAPA:18989 prepuce of male FMA:19639 penile prepuce Wikipedia:Foreskin prepucium FMA:19639 foreskin white adipose tissue Adipose tissue, cells of which contain a single large lipid droplet.[FMA[FMA:FMA]] BTO:0001456 CALOHA:TS-1119 Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified] EFO:0000813 FMA:20117 MA:0000058 MAT:0000199 MIAA:0000199 UBERON:0001347 UMLS:C1704223 Wikipedia:White_adipose_tissue adipocytus unigutturalis ncithesaurus:White_Adipose_Tissue textus adiposus albus uberon unilocular adipose tissue white fat Adipose tissue, cells of which contain a single large lipid droplet.[FMA[FMA:FMA]] FMA:FMA Wikipedia:White_adipose_tissue textus adiposus albus Connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels[MP,modified] ISBN:0-683-40008-8 MP:0005670 brown adipose tissue A thermogenic form of adipose tissue that is composed of brown adipocytes[MP,modified] Adipose tissue, cells of which contain multiple small lipid droplets.[FMA[FMA:FMA]] BTO:0000156 CALOHA:TS-0099 EFO:0000812 EMAPA:19209 FMA:20118 GAID:921 MA:0000057 MAT:0000198 MESH:A10.165.114.322 MIAA:0000198 SCTID:15965003 UBERON:0001348 UMLS:C0006298 Wikipedia:Brown_adipose_tissue adipocytus multigutturalis brown fat http://upload.wikimedia.org/wikipedia/commons/6/69/Brownfat_PETCT.jpg multilocular adipose tissue ncithesaurus:Brown_Adipose_Tissue textus adiposus fuscus uberon Adipose tissue, cells of which contain multiple small lipid droplets.[FMA[FMA:FMA]] FMA:FMA A thermogenic form of adipose tissue that is composed of brown adipocytes[MP,modified] MGI:smb MP:0011698 Wikipedia:Brown_adipose_tissue textus adiposus fuscus anal region Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] EFO:0000847 EHDAA2:0000122 EHDAA:2931 EMAPA:16831 MA:0000329 MAT:0000042 MIAA:0000042 SCTID:362680001 The anus and surrounding regions. Encompasses both internal and external regions, where present UBERON:0001353 UMLS:C0230120 VHOG:0000395 WBbt:0006919 http://upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Gray408.png/200px-Gray408.png ncithesaurus:Anal_Region uberon VHOG:0000395 The anus and surrounding regions. Encompasses both internal and external regions, where present https://orcid.org/0000-0002-6601-2165 2012-09-17 Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11 VHOG VHOG:0000395 http://bgee.unil.ch/ cerebrospinal fluid AO notes: the FMA def states that this is subarachnoid spaces only. ZFA def states subarachnoid spaces and brain ventricles, but not SC (and has part_of to brain). Circulation: It circulates from the lateral ventricles to the foramen of Monro (Interventricular foramen), third ventricle, aqueduct of Sylvius (Cerebral aqueduct), fourth ventricle, foramen of Magendie (Median aperture) and foramina of Luschka (Lateral apertures), subarachnoid space over brain and spinal cord. It should be noted that the CSF moves in a pulsatile manner throughout the CSF system with nearly zero net flow. CSF is reabsorbed into venous sinus blood via arachnoid granulations. BTO:0000237 CALOHA:TS-0130 CSF EFO:0000329 EHDAA2:0004441 ENVO:02000029 EV:0100311 FMA:20935 GAID:1181 In vertebrates, at early stages of Central Nervous System (CNS) development, the architecture of the brain primordium reveals the presence of the cavity of brain vesicles, which is filled by Embryonic Cerebro-Spinal Fluid (E-CSF). (...) Rat and chick E-CSF proteomes are similar, although rat is more complex in certain groups of proteins, e.g., apolipoproteins, which may be involved in the control of neural diversity, and has soluble enzymes present, just like adult human CSF, but unlike chick E-CSF, revealing phylogenetic brain differences between these groups of vertebrates.[uncertain][VHOG] MA:0002503 MAT:0000499 MESH:A12.207.268 NIF_GrossAnatomy:birnlex_1798 Portion of organism substance that is a clear fluid that occupies the subarachnoid space and the ventricular system around and inside the brain.[TAO] TAO:0002184 UBERON:0001359 UMLS:C0007806 VHOG:0001278 Wikipedia:Cerebrospinal_fluid ZFA:0001626 a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. cerebral spinal fluid liquor cerebrospinalis ncithesaurus:Cerebrospinal_Fluid spinal fluid uberon Wikipedia:Cerebrospinal_fluid liquor cerebrospinalis 2012-09-17 DOI:10.1021/pr050213t Parada C, Gato A, Bueno D, Mammalian embryonic cerebrospinal fluid proteome has greater apolipoprotein and enzyme pattern complexity than the avian proteome. Journal of Proteome Research (2005) In vertebrates, at early stages of Central Nervous System (CNS) development, the architecture of the brain primordium reveals the presence of the cavity of brain vesicles, which is filled by Embryonic Cerebro-Spinal Fluid (E-CSF). (...) Rat and chick E-CSF proteomes are similar, although rat is more complex in certain groups of proteins, e.g., apolipoproteins, which may be involved in the control of neural diversity, and has soluble enzymes present, just like adult human CSF, but unlike chick E-CSF, revealing phylogenetic brain differences between these groups of vertebrates.[uncertain][VHOG] VHOG VHOG:0001278 http://bgee.unil.ch/ VHOG:0001278 Wikipedia:Cerebrospinal_fluid a clear, colorless, bodily fluid, that occupies the subarachnoid space and the ventricular system around and inside the brain and spinal cord. 2012-08-14 Portion of organism substance that is a clear fluid that occupies the subarachnoid space and the ventricular system around and inside the brain.[TAO] TAO TAO:0002184 ZFIN:curator BTO:0000237 spinal fluid ZFA:0001626 cerebral spinal fluid biceps femoris BTO:0003418 EFO:0001418 FMA:22356 MA:0002270 SCTID:181672002 The biceps femoris is a muscle of the posterior (the back) thigh. As its name implies, it has two parts, one of which (the long head) forms part of the hamstrings muscle group. [WP,unvetted]. UBERON:0001374 UMLS:C0224449 Wikipedia:Biceps_femoris_muscle biceps femoris muscle galen:BicepsFemoris http://upload.wikimedia.org/wikipedia/commons/b/bc/Biceps_femoris_muscle_long_head.PNG http://upload.wikimedia.org/wikipedia/commons/thumb/b/bc/Biceps_femoris_muscle_long_head.PNG/200px-Biceps_femoris_muscle_long_head.PNG musculus biceps femoris ncithesaurus:Biceps_Femoris uberon The biceps femoris is a muscle of the posterior (the back) thigh. As its name implies, it has two parts, one of which (the long head) forms part of the hamstrings muscle group. [WP,unvetted]. Wikipedia:Biceps_femoris_muscle BTO:0003418 biceps femoris muscle Wikipedia:Biceps_femoris_muscle musculus biceps femoris quadriceps femoris BTO:0001149 EFO:0001938 EHDAA2:0001583 EHDAA:8299 EMAPA:19073 EMAPA:19146 FMA:22428 MA:0002363 OpenCyc:Mx4rvVjd-JwpEbGdrcN5Y29ycA SCTID:181669009 The quadriceps femoris, also called simply the quadriceps, quadriceps extensor, quads, is a large muscle group that includes the four prevailing muscles on the front of the thigh. It is the great extensor muscle of the knee, forming a large fleshy mass which covers the front and sides of the femur. It is the strongest and leanest muscle in the human body. It is subdivided into four separate portions or 'heads', which have received distinctive names: Rectus femoris occupies the middle of the thigh, covering most of the other three quadriceps muscles. It originates on the ilium. It is named from its straight course. The other three lie deep to rectus femoris and originate from the body of the femur, which they cover from the trochanters to the condyles: Vastus lateralis is on the lateral side of the femur (i.e. on the outer side of the thigh). Vastus medialis is on the medial side of the femur (i.e. on the inner part thigh). Vastus intermedius lies between vastus lateralis and vastus medialis on the front of the femur (i.e. on the top or front of the thigh). All four parts of the quadriceps muscle attach to the patella (knee cap) via the quadriceps tendon. The quadriceps is also involved in Lombard's Paradox. The proper plural form of the adjective quadriceps is quadricipes, a form not in general use; instead, quadriceps is used in both singular and plural (i.e. , when referring to both legs). The form quadricep &#91;sic&#93;, though common even in professional contexts, is incorrect. The error may derive from a mistaken belief that quadriceps is a plural noun (rather than an adjective in the singular), since English typically forms its plurals with the addition of the letter s to the end of a word stem. [WP,unvetted]. The quadriceps is a collective term for the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius). [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.391][VHOG] This class was created automatically from a combination of ontologies UBERON:0001377 UMLS:C0224440 VHOG:0000828 Wikipedia:Quadriceps_femoris_muscle galen:QuadricepsFemoris http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/5/57/Illu_lower_extremity_muscles.jpg/200px-Illu_lower_extremity_muscles.jpg musculus quadriceps femoris ncithesaurus:Quadriceps_Muscle_of_the_Thigh quadricep muscle quadriceps quadriceps femoris muscle quadriceps muscle quadriceps muscle of the thigh quadriceps muscle of thigh uberon BTO:0001149 quadriceps muscle of the thigh BTO:0001149 quadricep muscle The quadriceps femoris, also called simply the quadriceps, quadriceps extensor, quads, is a large muscle group that includes the four prevailing muscles on the front of the thigh. It is the great extensor muscle of the knee, forming a large fleshy mass which covers the front and sides of the femur. It is the strongest and leanest muscle in the human body. It is subdivided into four separate portions or 'heads', which have received distinctive names: Rectus femoris occupies the middle of the thigh, covering most of the other three quadriceps muscles. It originates on the ilium. It is named from its straight course. The other three lie deep to rectus femoris and originate from the body of the femur, which they cover from the trochanters to the condyles: Vastus lateralis is on the lateral side of the femur (i.e. on the outer side of the thigh). Vastus medialis is on the medial side of the femur (i.e. on the inner part thigh). Vastus intermedius lies between vastus lateralis and vastus medialis on the front of the femur (i.e. on the top or front of the thigh). All four parts of the quadriceps muscle attach to the patella (knee cap) via the quadriceps tendon. The quadriceps is also involved in Lombard's Paradox. The proper plural form of the adjective quadriceps is quadricipes, a form not in general use; instead, quadriceps is used in both singular and plural (i.e. , when referring to both legs). The form quadricep &#91;sic&#93;, though common even in professional contexts, is incorrect. The error may derive from a mistaken belief that quadriceps is a plural noun (rather than an adjective in the singular), since English typically forms its plurals with the addition of the letter s to the end of a word stem. [WP,unvetted]. Wikipedia:Quadriceps_femoris_muscle VHOG:0000828 Wikipedia:Quadriceps_femoris_muscle musculus quadriceps femoris BTO:0001149 musculus quadriceps femoris BTO:0001149 quadriceps muscle 2012-09-17 The quadriceps is a collective term for the rectus femoris and the three heads of the vastus (lateralis, medialis, intermedius). [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.391][VHOG] VHOG VHOG:0000828 http://bgee.unil.ch/ BTO:0001149 quadriceps muscle of thigh true vastus lateralis BTO:0001563 EFO:0001937 FMA:22431 MA:0002402 The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutæus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001379 UMLS:C0224444 Wikipedia:Vastus_lateralis galen:VastusLateralis http://upload.wikimedia.org/wikipedia/commons/thumb/5/57/Illu_lower_extremity_muscles.jpg/200px-Illu_lower_extremity_muscles.jpg lateralis ncithesaurus:Vastus_Lateralis uberon vastus externus true The Vastus lateralis (Vastus externus) is the largest part of the Quadriceps femoris. It arises by a broad aponeurosis, which is attached to the upper part of the intertrochanteric line, to the anterior and inferior borders of the greater trochanter, to the lateral lip of the gluteal tuberosity, and to the upper half of the lateral lip of the linea aspera; this aponeurosis covers the upper three-fourths of the muscle, and from its deep surface many fibers take origin. A few additional fibers arise from the tendon of the Glutæus maximus, and from the lateral intermuscular septum between the Vastus lateralis and short head of the Biceps femoris. The fibers form a large fleshy mass, which is attached to a strong aponeurosis, placed on the deep surface of the lower part of the muscle: this aponeurosis becomes contracted and thickened into a flat tendon inserted into the lateral border of the patella, blending with the Quadriceps femoris tendon, and giving an expansion to the capsule of the knee-joint. [WP,unvetted]. Wikipedia:Vastus_lateralis BTO:0001563 vastus externus primary motor cortex BM:Tel-Cx-M1 BTO:0004348 EFO:0002472 FMA:224854 MA:0000907 MESH:A08.186.211.730.885.213.270.548 SCTID:11931008 TODO: in MA this is asserted to be part_of BOTH frontal and parietal cortex. in ABA these are disjoint. FMA makes no commitment beyond cerebral cortex. Wikipedia says frontal lobe. Check if species difference or difference in definition. Removed relationship: part_of UBERON:0001872 UBERON:0001384 UMLS:C0026607 Wikipedia:Primary_motor_cortex a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). The human primary motor cortex is located in the dorsal part of the precentral gyrus and the anterior bank of the central sulcus. The precentral gyrus is in front of the postcentral gyrus from which it is separated by the central sulcus. Its anterior border is the precentral sulcus, while inferiorly it borders to the lateral fissure (Sylvian fissure). Medially, it is contiguous with the paracentral lobule. gyrus precentralis http://upload.wikimedia.org/wikipedia/commons/e/eb/Ba4.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/eb/Ba4.png/200px-Ba4.png motor cortex ncithesaurus:Primary_Motor_Cortex prefrontal gyrus the area of the frontal lobe that is involved with integration of voluntary movements and with speech.[MP] uberon MP:0000798 Wikipedia:Primary_motor_cortex prefrontal gyrus 2012-08-31 MGI:csmith MP MP:0000800 the area of the frontal lobe that is involved with integration of voluntary movements and with speech.[MP] FMA:224854 motor cortex MA-modified TODO: in MA this is asserted to be part_of BOTH frontal and parietal cortex. in ABA these are disjoint. FMA makes no commitment beyond cerebral cortex. Wikipedia says frontal lobe. Check if species difference or difference in definition. Removed relationship: part_of UBERON:0001872 Wikipedia:Primary_motor_cortex a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). The human primary motor cortex is located in the dorsal part of the precentral gyrus and the anterior bank of the central sulcus. The precentral gyrus is in front of the postcentral gyrus from which it is separated by the central sulcus. Its anterior border is the precentral sulcus, while inferiorly it borders to the lateral fissure (Sylvian fissure). Medially, it is contiguous with the paracentral lobule. MA Wikipedia Wikipedia:Primary_motor_cortex gyrus precentralis tibialis anterior BTO:0001382 EFO:0001385 FMA:22532 In human anatomy, the tibialis anterior is a muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]. MA:0002395 SCTID:181696007 This class was created automatically from a combination of ontologies UBERON:0001385 UMLS:C1710423 Wikipedia:Tibialis_anterior_muscle anterior tibialis galen:TibialisAnterior http://upload.wikimedia.org/wikipedia/commons/9/9c/Gray1240.png http://upload.wikimedia.org/wikipedia/commons/thumb/9/9c/Gray1240.png/200px-Gray1240.png ibialis anticus musculus tibialis anterior ncithesaurus:Tibialis_Cranialis tibialis anterior muscle tibialis cranialis tibilais cranialis uberon Wikipedia:Tibialis_anterior_muscle musculus tibialis anterior In human anatomy, the tibialis anterior is a muscle that originates in the upper two-thirds of the lateral surface of the tibia and inserts into the medial cuneiform and first metatarsal bones of the foot. Its acts to invert the foot. It is situated on the lateral side of the tibia; it is thick and fleshy above, tendinous below. This muscle overlaps the anterior tibial vessels and deep peroneal nerve in the upper part of the leg. [WP,unvetted]. The M. tibialis cranialis is a muscle that flexes the tarsometatarsus. It originates on the craniodistal aspect of the femur and proximal tibiotarsus and inserts on the cranial surface of the tarsometarsus[EvoWiki]. Wikipedia:Tibialis_anterior_muscle http://evolutionwiki.org/wiki/M._tibialis_cranialis BTO:0001382 anterior tibialis BTO:0001382 ibialis anticus BTO:0001382 tibialis anterior muscle MA:0002395 tibialis cranialis gastrocnemius A muscle of the shank. In mammals it has two heads[Kardong]. It runs from its two heads just above the knee to the heel, and is involved in standing, walking, running and jumping. Along with the soleus muscle it forms the calf muscle. [WP]. BTO:0000506 EFO:0001413 EHDAA2:0000701 EHDAA:8293 FMA:22541 MA:0002306 SCTID:181700004 The most prominent ventral muscle of the shank is the gastrocnemius, the 'calf' muscle. In mammals, it has two heads, resulting from the fusion of two different phylogenetic predecessors.[well established][VHOG] The most superficial calf muscle in the posterior part of the leg. [TFD][VHOG] UBERON:0001388 UMLS:C0242691 VHOG:0001193 Wikipedia:Gastrocnemius_muscle galen:Gastrocnemius gastrocnemius muscle http://upload.wikimedia.org/wikipedia/commons/8/8e/Gastrocnemius.png http://upload.wikimedia.org/wikipedia/commons/thumb/8/8e/Gastrocnemius.png/200px-Gastrocnemius.png m. gastrocnemius m.gastrocnemius musculus gastrocnemius ncithesaurus:Gastrocnemius_Muscle uberon Wikipedia:Gastrocnemius_muscle musculus gastrocnemius A muscle of the shank. In mammals it has two heads[Kardong]. It runs from its two heads just above the knee to the heel, and is involved in standing, walking, running and jumping. Along with the soleus muscle it forms the calf muscle. [WP]. ISBN10:0073040584 Wikipedia:Gastrocnemius_muscle 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.393 The most prominent ventral muscle of the shank is the gastrocnemius, the 'calf' muscle. In mammals, it has two heads, resulting from the fusion of two different phylogenetic predecessors.[well established][VHOG] VHOG VHOG:0001193 http://bgee.unil.ch/ BTO:0000506 gastrocnemius muscle VHOG:0001193 2012-09-17 The most superficial calf muscle in the posterior part of the leg. [TFD][VHOG] VHOG VHOG:0001193 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/gastrocnemius soleus muscle BTO:0001265 EFO:0001946 FMA:22542 MA:0002424 SCTID:181702007 This class was created automatically from a combination of ontologies UBERON:0001389 UMLS:C0242694 Wikipedia:Soleus_muscle a powerful muscle in the back part of the lower leg (the calf). It runs from just below the knee to the heel, and is involved in standing and walking. It is closely connected to the gastrocnemius muscle and some anatomists consider them to be a single muscle, the triceps surae. Its name is derived from the solefish whose shape it resembles. The soleus is located in the superficial posterior compartment of the leg. Not all mammals have a soleus muscle; one familiar species that lacks the soleus is the dog. galen:Soleus http://upload.wikimedia.org/wikipedia/commons/5/57/Illu_lower_extremity_muscles.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/5/57/Illu_lower_extremity_muscles.jpg/200px-Illu_lower_extremity_muscles.jpg ncithesaurus:Soleus soleal soleus uberon Wikipedia:Soleus_muscle a powerful muscle in the back part of the lower leg (the calf). It runs from just below the knee to the heel, and is involved in standing and walking. It is closely connected to the gastrocnemius muscle and some anatomists consider them to be a single muscle, the triceps surae. Its name is derived from the solefish whose shape it resembles. The soleus is located in the superficial posterior compartment of the leg. Not all mammals have a soleus muscle; one familiar species that lacks the soleus is the dog. MA:0002424 soleus Wikipedia:Soleus brachial artery AAO:0010504 EFO:0004231 FMA:22689 GAID:475 MA:0001921 MESH:A07.231.114.139 OpenCyc:Mx4rwM-i5JwpEbGdrcN5Y29ycA Part of the subclavian artery which supplies blood to the forelimb.[AAO] SCTID:181322008 The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001398 UMLS:C0006087 Wikipedia:Brachial_artery arteria brachialis brachial part of trunk of subclavian artery galen:BrachialArtery http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray525.png http://upload.wikimedia.org/wikipedia/commons/thumb/7/7d/Gray525.png/200px-Gray525.png ncithesaurus:Brachial_Artery uberon 2012-06-20 AAO AAO:0010504 AAO:BJB Part of the subclavian artery which supplies blood to the forelimb.[AAO] The brachial artery is the major blood vessel of the (upper) arm. It is the continuation of the axillary artery beyond the lower margin of teres major muscle. It continues down the ventral surface of the arm until it reaches the cubital fossa at the elbow. It then divides into the radial and ulnar arteries which run down the forearm. In some individuals, the bifurcation occurs much earlier and the ulnar and radial arteries extend through the upper arm. The pulse of the brachial artery is palpable on the anterior aspect of the elbow, medial to the tendon of the biceps, and, with the use of a stethoscope and sphygmomanometer (blood pressure cuff) often used to measure the blood pressure. The brachial artery is closely related to the median nerve; in proximal regions, the median nerve is immediately lateral to the brachial artery. Distally, the median nerve crosses the medial side of the brachial artery and lies anterior to the elbow joint. [WP,unvetted]. Wikipedia:Brachial_artery Wikipedia:Brachial_artery arteria brachialis skeletal system AAO:0000566 Anatomical system consisting of multiple elements and tissues that provides physical support.[TAO] Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.[VSAO] BTO:0001486 By taking a holistic approach, integration of the evidence from molecular and developmental features of model organisms, the phylogenetic distribution in the 'new animal phylogeny' and the earliest fossilized remains of mineralized animal skeletons suggests independent origins of the skeleton at the phylum level.[debated][VHOG] CALOHA:TS-1320 EFO:0000806 EHDAA2:0003168 FMA:23881 MA:0000018 Note that GO defines skeletal system very generically: The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton) GO:0001501; however, all annotations are to vertebrates OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA Skelettsystem System that provides physical support to the organism.[AAO] TAO:0000434 UBERON:0001434 UMLS:C0037253 VHOG:0001254 VSAO:0000027 XAO:0003060 ZFA:0000434 http://purl.obolibrary.org/obo/uberon/references/reference_0000025 ncithesaurus:Skeletal_System set of all bones and joints skeletal skeleton system uberon set of all bones and joints 2012-08-14 Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system.[VSAO] GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070 PSPUB:0000170 VSAO VSAO:0000027 Anatomical system that is a multi-element, multi-tissue anatomical cluster that consists of the skeleton and the articular system. GO_REF:0000034 VSAO:0000027 http://dx.plos.org/10.1371/journal.pone.0051070 VHOG:0001254 2012-09-17 By taking a holistic approach, integration of the evidence from molecular and developmental features of model organisms, the phylogenetic distribution in the 'new animal phylogeny' and the earliest fossilized remains of mineralized animal skeletons suggests independent origins of the skeleton at the phylum level.[debated][VHOG] DOI:10.1159/000324245 Donoghue PCJ, Sansom IJ, Origin and early evolution of vertebrate skeletonization. Microscopy research and technique (2002) VHOG VHOG:0001254 http://bgee.unil.ch/ 2012-08-14 Anatomical system consisting of multiple elements and tissues that provides physical support.[TAO] TAO TAO:0000434 TAO:wd BTO:0001486 Skelettsystem 2012-06-20 AAO AAO:0000566 AAO:LAP System that provides physical support to the organism.[AAO] chest BTO:0001368 CALOHA:TS-1039 EFO:0000965 EV:0100010 FMA:9576 GAID:91 MA:0000031 MAT:0000295 MESH:A01.911 MIAA:0000295 OpenCyc:Mx4rvVikFZwpEbGdrcN5Y29ycA Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. UBERON:0001443 UMLS:C0817096 UMLS:C1527391 Wikipedia:Chest anterior chest anterior thoracic region anterolateral part of thorax editor note - FMA:24216 present in FMA1, but gone in subsequent versions front of chest front of thorax galen:Chest galen:Thorax http://upload.wikimedia.org/wikipedia/commons/d/db/Chest.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/d/db/Chest.jpg/200px-Chest.jpg ncithesaurus:Chest ncithesaurus:Thorax pectus thoracic body wall thorax uberon ventral part of thoracic region FMA:24816 front of chest MA:0000031 thoracic body wall FMA:24816 anterior chest FMA:24816 FMA:TA pectus FMA:9576 thorax Wikipedia:Chest thorax FMA:9576 Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper[FMA]. Wikipedia:Chest fibula AAO:0000891 BTO:0002346 CALOHA:TS-2203 EFO:0003052 EMAPA:18512 EMAPA:19141 FMA:24479 GAID:202 MA:0001360 MESH:A02.835.232.500.321 One of the two long bones of endochondral origin of the hind-epipodium; it is a rather more slender bone than the tibia but of about the same length.[AAO] SCTID:302529003 The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]. UBERON:0001446 UMLS:C0016068 Wikipedia:Fibula fibular galen:Fibula http://upload.wikimedia.org/wikipedia/commons/1/16/Illu_lower_extremity.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/1/16/Illu_lower_extremity.jpg/200px-Illu_lower_extremity.jpg ncithesaurus:Fibula uberon PHENOSCAPE:mah The major postaxial endochondral bone in the posterior zeugopod[Phenoscape]. 2012-06-20 AAO AAO:0000891 AAO:LAP One of the two long bones of endochondral origin of the hind-epipodium; it is a rather more slender bone than the tibia but of about the same length.[AAO] elbow CALOHA:TS-2222 EFO:0003069 EHDAA2:0000429 EHDAA:4166 EHDAA:6212 EMAPA:17414 FMA:24901 GAID:54 MA:0000036 MESH:A01.378.800.420 Naming conventions for pod terms under discussion within phenoscape group OpenCyc:Mx4rvVjjNZwpEbGdrcN5Y29ycA SCTID:76248009 The elbow is the region surrounding the elbow-joint—the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]. UBERON:0001461 VHOG:0000340 Wikipedia:Elbow articulatio cubiti cubital cubital region elbow limb segment elbow region galen:Elbow http://upload.wikimedia.org/wikipedia/commons/5/5c/Elbow_coude.JPG uberon Wikipedia:Elbow articulatio cubiti The elbow is the region surrounding the elbow-joint—the ginglymus or hinge joint in the middle of the arm. Three bones form the elbow joint: the humerus of the upper arm, and the paired radius and ulna of the forearm. The bony prominence at the very tip of the elbow is the olecranon process of the ulna, and the inner aspect of the elbow is called the antecubital fossa. [WP,unvetted,human-specific]. Wikipedia:Elbow VHOG:0000340 knee A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod. BTO:0003595 CALOHA:TS-2220 EHDAA2:0000895 EHDAA:5159 EHDAA:6184 EMAPA:17493 FMA:24974 GAID:48 MA:0000046 MESH:A01.378.610.450 OpenCyc:Mx4rvVjPKZwpEbGdrcN5Y29ycA SCTID:361291001 UBERON:0001465 VHOG:0000347 galen:Knee http://upload.wikimedia.org/wikipedia/commons/thumb/8/8d/Male_Knee_by_David_Shankbone.jpg/200px-Male_Knee_by_David_Shankbone.jpg knee region uberon VHOG:0000347 A segment of the hindlimb that corresponds to the joint connecting a hindlimb stylopod and zeugopod. https://orcid.org/0000-0002-6601-2165 shoulder (...) endochondral elements of the early tetrapod shoulder develop from two centers of ossification, giving rise to a scapula and a 'coracoid'.[well established][VHOG] AO notes: In FMA, the shoulder is part of the pectoral girdle region. in MA, shoulder structures like shoulder joints, bones, nerves etc are part of the shoulder and the forelimb. E.g. humerus is a shoulder bone CALOHA:TS-2229 EFO:0003068 EHDAA2:0001834 EHDAA:4180 EHDAA:6228 EMAPA:17421 FMA:25202 GAID:60 In human anatomy, the shoulder joint comprises the part of the body where the humerus attaches to the scapula. The shoulder refers to the group of structures in the region of the joint. It is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder make up the shoulder joints. There are two kinds of cartilage in the joint. The first type is the white cartilage on the ends of the bones (called articular cartilage) which allows the bones to glide and move on each other. When this type of cartilage starts to wear out (a process called arthritis), the joint becomes painful and stiff. The labrum is a second kind of cartilage in the shoulder which is distinctly different from the articular cartilage. This cartilage is more fibrous or rigid than the cartilage on the ends of the ball and socket. Also, this cartilage is also found only around the socket where it is attached. The shoulder must be flexible for the wide range of motion required in the arms and hands and also strong enough to allow for actions such as lifting, pushing and pulling. The compromise between these two functions results in a large number of shoulder problems not faced by other joints such as the hip. [WP,unvetted]. MA:0000038 MESH:A01.378.800.750 OpenCyc:Mx4rvViCM5wpEbGdrcN5Y29ycA SCTID:361103004 UBERON:0001467 UMLS:C0037004 VHOG:0000342 Wikipedia:Shoulder articulatio humeri galen:Shoulder http://upload.wikimedia.org/wikipedia/commons/9/90/Shoulderjoint.PNG http://upload.wikimedia.org/wikipedia/commons/thumb/9/90/Shoulderjoint.PNG/200px-Shoulderjoint.PNG ncithesaurus:Shoulder shoulder region uberon Wikipedia:Shoulder articulatio humeri (...) endochondral elements of the early tetrapod shoulder develop from two centers of ossification, giving rise to a scapula and a 'coracoid'.[well established][VHOG] 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.332 VHOG VHOG:0000342 http://bgee.unil.ch/ In human anatomy, the shoulder joint comprises the part of the body where the humerus attaches to the scapula. The shoulder refers to the group of structures in the region of the joint. It is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder make up the shoulder joints. There are two kinds of cartilage in the joint. The first type is the white cartilage on the ends of the bones (called articular cartilage) which allows the bones to glide and move on each other. When this type of cartilage starts to wear out (a process called arthritis), the joint becomes painful and stiff. The labrum is a second kind of cartilage in the shoulder which is distinctly different from the articular cartilage. This cartilage is more fibrous or rigid than the cartilage on the ends of the ball and socket. Also, this cartilage is also found only around the socket where it is attached. The shoulder must be flexible for the wide range of motion required in the arms and hands and also strong enough to allow for actions such as lifting, pushing and pulling. The compromise between these two functions results in a large number of shoulder problems not faced by other joints such as the hip. [WP,unvetted]. Wikipedia:Shoulder VHOG:0000342 lymphatic vessel A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[TAO] A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]. A vessel that contains or conveys lymph.[AAO] AAO:0011005 BTO:0000752 CALOHA:TS-2102 EFO:0000873 FMA:30315 MA:0000138 MAT:0000443 OpenCyc:Mx4rwA1fYZwpEbGdrcN5Y29ycA SCTID:279089004 TAO:0005105 Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG] UBERON:0001473 UMLS:C0229889 VHOG:0001249 Wikipedia:Lymphatic_vessel XAO:0000375 http://upload.wikimedia.org/wikipedia/commons/4/44/Illu_lymph_capillary.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/4/44/Illu_lymph_capillary.jpg/200px-Illu_lymph_capillary.jpg lymph vessel ncithesaurus:Lymphatic_Vessel uberon vas lymphaticum A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure[BTO]. BTO:0000752 Wikipedia:Lymphatic_vessel 2012-08-14 A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[TAO] TAO TAO:0005105 ZFIN:curator Wikipedia:Lymphatic_vessel vas lymphaticum 2012-06-20 A vessel that contains or conveys lymph.[AAO] AAO AAO:0011005 AAO:EJS 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.627 Tetrapods have evolved distinct lymphatic systems, in which lymphatic capillaries help drain most of the tissues of the body.[well established][VHOG] VHOG VHOG:0001249 http://bgee.unil.ch/ VHOG:0001249 deltoid A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA] AAO:0010716 EFO:0001412 EHDAA2:0000339 EMAPA:18177 FMA:32521 MA:0002286 Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus.[AAO] OpenCyc:Mx4rvVjdc5wpEbGdrcN5Y29ycA SCTID:181620007 UBERON:0001476 UMLS:C0224234 VHOG:0000846 We use a generic definition that includes the deltoideus as represented in AAO: 'Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus'. Wikipedia:Deltoid_muscle common shoulder muscle deltoid muscle deltoideus deltoideus muscle http://upload.wikimedia.org/wikipedia/commons/9/93/Deltoideus.png m. deltoideus musculus deltoideus ncithesaurus:Deltoid uberon VHOG:0000846 A muscle of shoulder which attaches to the scapula, clavicle and humerus.[FMA] Wikipedia:Deltoid_muscle Wikipedia:Deltoid_muscle deltoid muscle 2012-06-20 AAO AAO:0010716 AAO:MEJ Muscle which originates as three heads, the pars externalis, pars clavicularis, and pars scapularis. The pars externalis originates from the lateral border of the omosternum and inserts on the distal portion of the humerus. The pars clavicularis originates from the ventro-lateral surface of the clavicle and inserts on the deltoid crest of the humerus. The pars scapularis originates from the lateral surface of the clavicle and inserts on the deltoid crest of the humerus.[AAO] Wikipedia:Deltoid_muscle musculus deltoideus Wikipedia:Deltoid_muscle deltoideus AAO:0010716 m. deltoideus Wikipedia:Deltoid_muscle common shoulder muscle Wikipedia:Deltoid_muscle deltoideus muscle Wikipedia:Deltoid_muscle musculus deltoideus knee joint EFO:0001957 EMAPA:19137 FMA:35175 GAID:114 MA:0000471 MESH:A02.835.583.475 OpenCyc:Mx4rwCuaYZwpEbGdrcN5Y29ycA SCTID:182204005 The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation. Since in humans the knee supports nearly the whole weight of the body, it is the joint most vulnerable both to acute injury and the development of osteoarthritis. [WP,unvetted]. UBERON:0001485 UMLS:C0022745 VHOG:0001003 Wikipedia:Knee articulatio genus galen:KneeJoint http://upload.wikimedia.org/wikipedia/commons/c/ca/Knee.agr.jpg joint of knee ncithesaurus:Knee_Joint uberon VHOG:0001003 Wikipedia:Knee articulatio genus OBOL:automatic joint of knee The knee joint joins the thigh with the leg and consists of two articulations: one between the femur and tibia, and one between the femur and patella. It is the largest and most complicated joint in the human body. The knee is a mobile trocho-ginglymus (i.e. a pivotal hinge joint), which permits flexion and extension as well as a slight medial and lateral rotation. Since in humans the knee supports nearly the whole weight of the body, it is the joint most vulnerable both to acute injury and the development of osteoarthritis. [WP,unvetted]. Wikipedia:Knee ankle joint A joint that connects the hindlimb autopod and zeugopod skeletons. BTO:0004706 FMA:35195 GAID:257 MA:0000463 MESH:A02.835.583.378.062 OpenCyc:Mx4rvwiy35wpEbGdrcN5Y29ycA SCTID:182212002 Taxon notes: todo - accurately represent different types of ankle joint UBERON:0001488 UMLS:C0003087 Wikipedia:Ankle galen:AnkleJoint gambrel hock hock joint http://upload.wikimedia.org/wikipedia/commons/thumb/b/bf/Ankle_en.svg/200px-Ankle_en.svg.png ncithesaurus:Ankle_Joint talocrural articulation talocrural joint talotibial joint uberon Wikipedia:Ankle talocrural articulation Wikipedia:Ankle talocrural joint A joint that connects the hindlimb autopod and zeugopod skeletons. MESH:A02.835.583.378.062 Wikipedia:Ankle https://orcid.org/0000-0002-6601-2165 Wikipedia:Hock_(anatomy) hock joint Wikipedia:Hock_(anatomy) gambrel Wikipedia:Ankle talotibial joint Wikipedia:Hock_(anatomy) hock thoracic aorta BTO:0000157 EFO:0002525 EMAPA:18603 FMA:3786 GAID:471 MA:0002569 MESH:A07.231.114.056.372 OpenCyc:Mx4rveb9TpwpEbGdrcN5Y29ycA SCTID:302510009 The thoracic aorta is contained in the posterior mediastinal cavity. It begins at the lower border of the fourth thoracic vertebra where it is continuous with the aortic arch, and ends in front of the lower border of the twelfth thoracic vertebra, at the aortic hiatus in the diaphragm where it becomes the abdominal aorta. At its commencement, it is situated on the left of the vertebral column; it approaches the median line as it descends; and, at its termination, lies directly in front of the column. The vessel describes a curve which is concave forward; as the branches given off from it are small, its diminution in size is insignificant. It has a radius of approximately 1.16 cm. [WP,unvetted]. UBERON:0001515 UMLS:C1522460 Wikipedia:Thoracic_aorta aorta thoracalis galen:ThoracicAorta http://upload.wikimedia.org/wikipedia/commons/7/75/Gray530.png http://upload.wikimedia.org/wikipedia/commons/thumb/7/75/Gray530.png/200px-Gray530.png ncithesaurus:Thoracic_Aorta pars thoracica aortae thoracic part of aorta uberon The thoracic aorta is contained in the posterior mediastinal cavity. It begins at the lower border of the fourth thoracic vertebra where it is continuous with the aortic arch, and ends in front of the lower border of the twelfth thoracic vertebra, at the aortic hiatus in the diaphragm where it becomes the abdominal aorta. At its commencement, it is situated on the left of the vertebral column; it approaches the median line as it descends; and, at its termination, lies directly in front of the column. The vessel describes a curve which is concave forward; as the branches given off from it are small, its diminution in size is insignificant. It has a radius of approximately 1.16 cm. [WP,unvetted]. Wikipedia:Thoracic_aorta Wikipedia:Thoracic_aorta pars thoracica aortae Wikipedia:Thoracic_aorta aorta thoracalis abdominal aorta Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. BTO:0002976 EFO:0002524 EMAPA:17856 EMAPA:18607 Editors note: Many of the branches of the abdominal aorta in mammals may be branches of the dorsal aorta in other vertebrates FMA:3789 GAID:470 MA:0000474 MESH:A07.231.114.056.205 OpenCyc:Mx4rvYhWCZwpEbGdrcN5Y29ycA SCTID:244231007 UBERON:0001516 UMLS:C0003484 Wikipedia:Abdominal_aorta abdominal part of aorta aorta abdominalis descending abdominal aorta galen:AbdominalAorta http://upload.wikimedia.org/wikipedia/commons/a/af/Gray531.png http://upload.wikimedia.org/wikipedia/commons/thumb/a/af/Gray531.png/200px-Gray531.png ncithesaurus:Abdominal_Aorta pars abdominalis aortae uberon FMA:3789 descending abdominal aorta FMA:3789 abdominal part of aorta BTO:0002976 aorta abdominalis Abdominal part of aorta: the distal part of the descending aorta, which is the continuation of the thoracic part and gives rise to the inferior phrenic, lumbar, median sacral, superior and inferior mesenteric, middle suprarenal, renal, and testicular or ovarian arteries, and celiac trunk[BTO]. The abdominal aorta is the largest artery in the abdominal cavity. As part of the aorta, it is a direct continuation of descending aorta(of the thorax). [WP,unvetted]. BTO:0002976 Wikipedia:Abdominal_aorta BTO:0002976 pars abdominalis aortae FMA:3789 pars abdominalis aortae Wikipedia:Abdominal_aorta aorta abdominalis Wikipedia:Abdominal_aorta pars abdominalis aortae BTO:0002976 abdominal part of aorta brachiocephalic artery EFO:0002550 EHDAA2:0000835 EMAPA:17615 FMA:3932 GAID:476 MA:0001922 MESH:A07.231.114.145 OpenCyc:Mx4rv9mMTpwpEbGdrcN5Y29ycA SCTID:244244002 The brachiocephalic artery (or brachiocephalic trunk or innominate artery) is an artery of the mediastinum that supplies blood to the right arm and the head and neck. It is the first branch of the aortic arch, and soon after it emerges, the brachiocephalic artery divides into the right common carotid artery and the right subclavian artery. There is no brachiocephalic artery for the left side of the body. The left common carotid, and the left subclavian artery, come directly off the aortic arch. However, there are two brachiocephalic veins. [WP,unvetted]. UBERON:0001529 UMLS:C0006094 Wikipedia:Brachiocephalic_artery brachiocephalic trunk galen:BrachioCephalicArtery http://upload.wikimedia.org/wikipedia/commons/e/e6/Gray506.svg http://upload.wikimedia.org/wikipedia/commons/thumb/e/e6/Gray506.svg/200px-Gray506.svg.png innominate innominate artery ncithesaurus:Innominate_Artery truncus brachiocephalicus uberon The brachiocephalic artery (or brachiocephalic trunk or innominate artery) is an artery of the mediastinum that supplies blood to the right arm and the head and neck. It is the first branch of the aortic arch, and soon after it emerges, the brachiocephalic artery divides into the right common carotid artery and the right subclavian artery. There is no brachiocephalic artery for the left side of the body. The left common carotid, and the left subclavian artery, come directly off the aortic arch. However, there are two brachiocephalic veins. [WP,unvetted]. Wikipedia:Brachiocephalic_artery Wikipedia:Brachiocephalic_artery truncus brachiocephalicus FMA:3932 FMA:TA truncus brachiocephalicus MA:0001922 brachiocephalic trunk internal carotid artery AAO:0011054 BTO:0004697 EFO:0001952 EHDAA2:0000873 EHDAA:408 EHDAA:6389 EMAPA:16328 EMAPA:18612 Each of two arteries starting at the bifurcation of the common carotid arteries through which blood circulates to many structures and organs in the head. [TFD][VHOG] FMA:3947 GAID:481 ICA In human anatomy, the internal carotid artery is a major artery of the head and neck that helps supply blood to the brain. [WP,unvetted]. MA:0001930 MESH:A07.231.114.186.200.230 One of the major arteries of the head, it is the as the cranial continuation of the aortic arches and the dorsal aorta. It curves ventrally before resuming a dorsal course as it enters the head proper, and it lies ventral to the internal jugular vein. The internal carotid artery gives off palatine, ophthalmic, and cerebral branches by stage NF stage 41.[AAO] OpenCyc:Mx4rvYx8KZwpEbGdrcN5Y29ycA SCTID:362045001 TAO:0005081 This class was created automatically from a combination of ontologies UBERON:0001532 UMLS:C0007276 VHOG:0000267 Wikipedia:Internal_carotid_artery XAO:0000366 ZFA:0005081 arteria carotis interna http://upload.wikimedia.org/wikipedia/commons/9/9c/Gray513.png http://upload.wikimedia.org/wikipedia/commons/thumb/9/9c/Gray513.png/200px-Gray513.png ncithesaurus:Internal_Carotid_Artery uberon VHOG:0000267 2012-09-17 Each of two arteries starting at the bifurcation of the common carotid arteries through which blood circulates to many structures and organs in the head. [TFD][VHOG] VHOG VHOG:0000267 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/Internal+carotid+artery 2012-06-20 AAO AAO:0011054 One of the major arteries of the head, it is the as the cranial continuation of the aortic arches and the dorsal aorta. It curves ventrally before resuming a dorsal course as it enters the head proper, and it lies ventral to the internal jugular vein. The internal carotid artery gives off palatine, ophthalmic, and cerebral branches by stage NF stage 41.[AAO] PMID:12606281 In human anatomy, the internal carotid artery is a major artery of the head and neck that helps supply blood to the brain. [WP,unvetted]. Wikipedia:Internal_carotid_artery Wikipedia Wikipedia:Internal_carotid_artery arteria carotis interna masseter muscle BTO:0001755 EFO:0001424 EHDAA2:0001067 EHDAA:10561 EMAPA:25135 FMA:48996 MA:0002343 MESH:A02.633.567.600.500 Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by masseteric nerve branches, and attaches to mandible and zygomatic arch.[FEED] SCTID:181738000 The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG] The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati)[VHOG] UBERON:0001597 UMLS:C0024876 VHOG:0000823 Wikipedia:Masseter_muscle http://upload.wikimedia.org/wikipedia/commons/7/78/Illu_head_neck_muscle.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/7/78/Illu_head_neck_muscle.jpg/200px-Illu_head_neck_muscle.jpg jaw muscle of therapsids which permits the longitudinal, grinding, motions of the jaw. The masseter is derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos]. masseter musculus masseter ncithesaurus:Masseter_Muscle uberon Wikipedia:Masseter_muscle musculus masseter 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.333-334 and same reference Table 10-4 The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG] VHOG VHOG:0000823 http://bgee.unil.ch/ 2012-07-02 FEED Pharyngeal arch 1 muscle that participates in oral/pharyngeal behaviors, is innervated by masseteric nerve branches, and attaches to mandible and zygomatic arch.[FEED] http://www.feedexp.org VHOG:0000823 BTO:0001755 masseter Wikipedia:Masseter_muscle http://palaeos.com/vertebrates/glossary/glossaryM.html jaw muscle of therapsids which permits the longitudinal, grinding, motions of the jaw. The masseter is derived from the m. adductor mandibulae externus, which originates in the adductor chamber (in the temporal fenestra) and inserts on the coronoid process and internal surface of the lower jaw.[Palaeos]. extra-ocular muscle AAO:0010028 AO notes: BTO and MA consider this part of the eye; we follow them here (inferred from skeletal muscle). Not clear if omission from FMA is deliberate. Editor notes: todo - resolve discrepancies in which muscles are considered extra-ocular. Taxon notes: Mammals have 7 extra-ocular muscles, but humans lack the M. retractor bulbi. Note in ZFA this is the set of muscles. Any of the six small muscles that control movement of the eyeball within the socket. [TFD][VHOG] BTO:0001579 CALOHA:TS-0305 EFO:0001921 EHDAA2:0000482 EHDAA:5729 EMAPA:18234 FMA:49033 MA:0001271 Muscles surrounding the eye (bulbus oculi) and having an effect on eye movements.[AAO] SCTID:181150000 Skeletal muscle derived from cranial mesoderm and controls eye movements. TAO:0000511 The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these (extrinsic ocular) muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] UBERON:0001601 UBERON:0006229 VHOG:0000549 Wikipedia:Extraocular_muscles ZFA:0000511 extra-ocular skeletal muscle extraocular muscle extraocular musculature extraocular skeletal muscle extrinsic eye muscle extrinsic muscle of eyeball extrinsic ocular muscle http://upload.wikimedia.org/wikipedia/commons/6/61/MRI_of_human_eye.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/6/61/MRI_of_human_eye.jpg/200px-MRI_of_human_eye.jpg musculi externi bulbi oculi uberon EHDAA2:0000482 extrinsic ocular muscle FMA:49033 extraocular muscle MA:0001271 extraocular skeletal muscle OBOL:automatic extrinsic eye muscle 2012-06-20 AAO AAO:0010028 AAO:EJS Muscles surrounding the eye (bulbus oculi) and having an effect on eye movements.[AAO] FMA:49033 extrinsic muscle of eyeball Wikipedia:Extraocular_muscles musculi externi bulbi oculi ZFA:0000511 extraocular musculature 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.331 The ability to rotate the eyeball is common to all vertebrates with well-developed eyes, regardless of the habitat in which they live, so these (extrinsic ocular) muscles tend to be conservative. They change little during the course of evolution.[well established][VHOG] VHOG VHOG:0000549 http://bgee.unil.ch/ VHOG:0000549 GO:0002074 Skeletal muscle derived from cranial mesoderm and controls eye movements. Wikipedia:Extraocular_muscles 2012-09-17 Any of the six small muscles that control movement of the eyeball within the socket. [TFD][VHOG] VHOG VHOG:0000549 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/extraocular+muscle coronary artery An artery that supplies the myocardium. BTO:0000290 CALOHA:TS-0176 EFO:0002551 EMAPA:19160 EMAPA:25968 EV:0100383 FMA:49893 MA:0002453 OpenCyc:Mx4rvoL56ZwpEbGdrcN5Y29ycA SCTID:181294004 UBERON:0001621 UMLS:C0205042 VHOG:0001557 Wikipedia:Coronary_circulation#Coronary_anatomy coronary arterial tree galen:CoronaryArtery http://upload.wikimedia.org/wikipedia/commons/thumb/4/46/Gray492.png/200px-Gray492.png ncithesaurus:Coronary_Artery uberon VHOG:0001557 An artery that supplies the myocardium. Wikipedia:Coronary_circulation#Coronary_anatomy artery AAO:0010211 AEO:0000208 An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. BTO:0000573 CALOHA:TS-0054 EFO:0000814 EHDAA2:0000143 EHDAA2:0003253 EV:0100026 Editor notes: Note that in FMA an artery is a tree, whereas AEO/JB defines it as a tube; FMA includes a separate class for what it calls the trunk. Classification in this ontology may currently (Jan 2012) represent a mix of both schemes, although we are gradually revising in the direction of the AEO scheme. FMA:50720 GAID:468 MA:0000064 MAT:0000034 MESH:A07.231.114 MIAA:0000034 OpenCyc:Mx4rvVjknZwpEbGdrcN5Y29ycA Part of the circulatory system composed of blood vessels which carry oxygenated blood away from the heart to the rest of the body.[AAO] SCTID:362877004 TAO:0000005 The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] UBERON:0001637 UMLS:C0003842 VHOG:0001251 XAO:0000114 ZFA:0000005 arterial arterial subtree arterial system arterial tree organ part arterial vessel arteries galen:Artery ncithesaurus:Artery uberon 2012-06-20 AAO AAO:0010211 AAO:BJB Part of the circulatory system composed of blood vessels which carry oxygenated blood away from the heart to the rest of the body.[AAO] 2012-09-17 DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006) The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] VHOG VHOG:0001251 http://bgee.unil.ch/ TAO:0000005 arteries AEO:JB An epithelial tube or tree of tibes that transports blood away from the heart[modified from AEO definition]. VHOG:0001251 vein AAO:0010212 AEO:0000209 Any of the tubular branching vessels that carry blood from the capillaries toward the heart. BTO:0000234 CALOHA:TS-1108 EFO:0000816 EHDAA2:0003254 EV:0100031 FMA:50723 GAID:492 MA:0000067 MAT:0000037 MESH:A07.231.908 MIAA:0000037 OpenCyc:Mx4rvVjkWpwpEbGdrcN5Y29ycA Part of the circulatory system composed of blood vessels which carry blood from other organs, tissues, and cells to the heart.[AAO] SCTID:181367001 TAO:0000082 TODO - check with MA - vein vs venous blood vessel The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] UBERON:0001638 UMLS:C0042449 VHOG:0001743 Wikipedia:Vein XAO:0000115 ZFA:0000082 galen:Vein http://upload.wikimedia.org/wikipedia/commons/c/c2/Venous_system_en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/c/c2/Venous_system_en.svg/200px-Venous_system_en.svg.png ncithesaurus:Vein uberon vena venae venous subtree venous tree organ part venous vessel Any of the tubular branching vessels that carry blood from the capillaries toward the heart. Wikipedia:Vein VHOG:0001743 2012-06-20 AAO AAO:0010212 AAO:BJB Part of the circulatory system composed of blood vessels which carry blood from other organs, tissues, and cells to the heart.[AAO] 2012-09-17 DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006) The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] VHOG VHOG:0001743 http://bgee.unil.ch/ VHOG:0001743 venae Wikipedia:Vein vena trigeminal nerve AAO:0010470 BM:VN BTO:0001072 CN-V Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw). EFO:0001402 EHDAA2:0002084 EHDAA:3738 EMAPA:17576 FMA:50866 GAID:726 MA:0001100 MESH:A08.800.800.120.760 NIF_GrossAnatomy:birnlex_869 Nerve consists of motor and sensory components. Ganglion cells of the sensory component form the proximal part of the trigeminal (Gasserian) ganglion. From the ganglion 3 major rami innervate jaws, snout, and buccal roof.[AAO] OpenCyc:Mx4rwMF8CJwpEbGdrcN5Y29ycA SCTID:362459002 TAO:0000697 Taxon notes: the ophthalmic usually usually merges with the other two. In some vertebrates, the ophthalmic emerges from the brain separately[Kardong] The trigeminal nerve has 3 branches in mammals - similar branches are present in nonmammalian vertebrates, but in some a separate profundus nerve that corresponds to opthalmic branch in mammls[ISBN10:0471888893] UBERON:0001645 UMLS:C0040996 VHOG:0000704 We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] Wikipedia:Trigeminal_nerve XAO:0003092 ZFA:0000697 cranial nerve V fifth cranial nerve http://upload.wikimedia.org/wikipedia/commons/9/99/Gray778_Trigeminal.png http://upload.wikimedia.org/wikipedia/commons/thumb/9/99/Gray778_Trigeminal.png/200px-Gray778_Trigeminal.png ncithesaurus:Trigeminal_Nerve nervus trigeminus nervus trigeminus [v] trigeminal V trigeminal nerve [V] trigeminal nerve tree trigeminal v nerve trigeminus uberon VHOG:0000704 2012-06-20 AAO AAO:0010470 AAO:EJS Nerve consists of motor and sensory components. Ganglion cells of the sensory component form the proximal part of the trigeminal (Gasserian) ganglion. From the ganglion 3 major rami innervate jaws, snout, and buccal roof.[AAO] Wikipedia:Trigeminal_nerve nervus trigeminus 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.625 VHOG VHOG:0000704 We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] http://bgee.unil.ch/ BTO:0001072 trigeminus FMA:50866 FMA:TA nervus trigeminus [v] Cranial nerve that has three branches - the ophthalmic (supplying the skin of the nose and upper jaw), the maxillary and the mandibular (supplying the lower jaw). ISBN:0471209627 Wikipedia:Trigeminal_nerve BTO:0001072 nervus trigeminus EHDAA2:0002084 trigeminal V central retinal vein EFO:0004271 FMA:51799 GAID:524 MA:0002213 MESH:A07.231.611.773 SCTID:280913005 The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001673 UMLS:C0035327 Wikipedia:Central_retinal_vein http://upload.wikimedia.org/wikipedia/commons/2/2d/Gray572.png http://upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Gray572.png/200px-Gray572.png ncithesaurus:Retinal_Vein retinal vein uberon vena centralis retinae Wikipedia:Central_retinal_vein vena centralis retinae The central retinal vein (retinal vein) is a short vein that runs through the optic nerve and drains blood from the capillaries of the retina into the larger veins outside the eye. The anatomy of the veins of the orbit of the eye varies between individuals, and in some the central retinal vein drains into the superior ophthalmic vein, and in some it drains directly into the cavernous sinus. [WP,unvetted]. Wikipedia:Central_retinal_vein trigeminal ganglion 5th ganglion A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.[TAO] AAO:0011107 BTO:0001231 EFO:0000903 EHDAA2:0002085 EHDAA:2113 EMAPA:16797 FMA:52618 GAID:725 Gasser's ganglion Gasserian ganglia Gasserian ganglion MA:0001080 MAT:0000511 MESH:A08.340.390.850 SCTID:244449009 TAO:0000295 UBERON:0001675 UMLS:C0040995 VHOG:0000694 Wikipedia:Trigeminal_ganglion XAO:0000427 XAO:0000428 ZFA:0000295 fifth ganglion gV ganglion of trigeminal nerve ganglion semilunare ganglion trigeminale http://upload.wikimedia.org/wikipedia/commons/6/69/Gray776.png http://upload.wikimedia.org/wikipedia/commons/thumb/6/69/Gray776.png/200px-Gray776.png ncithesaurus:Trigeminal_Ganglion semilunar ganglion trigeminal V ganglion trigeminal ganglia trigeminus ganglion uberon Gasserian ganglion Wikipedia:Trigeminal_ganglion A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> Wikipedia:Trigeminal_ganglion ZFIN:curator EHDAA2 2012-08-14 A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.[TAO] TAO TAO:0000295 ZFIN:curator Wikipedia:Trigeminal_ganglion ganglion trigeminale ISBN10:0471888893 semilunar ganglion BTO:0001231 ganglion of trigeminal nerve BTO:0001231 Gasser's ganglion Gasserian ganglia Wikipedia:Trigeminal_ganglion trigeminal ganglia 5th ganglion ZFA:0000295 VHOG:0000694 BTO:0001231 ganglion trigeminale Wikipedia:Trigeminal_ganglion ganglion semilunare MA:0001080 trigeminal V ganglion ZFA:0000295 fifth ganglion mandible A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton. BTO:0001748 CALOHA:TS-2225 EFO:0001965 EHDAA2:0001059 EHDAA:8007 EMAPA:18290 Editor notes: consider merging with dentary - for now we make it a mammal-specific subclass. Terminology notes: 'mandible' also refers to either the upper OR lower part of the beak in birds. AO notes: Note in ZFA 'mandible' is a syn for the ventral mandibular arch, which is a portion of the 1st pharyngeal arch; however the term 'mandibular symphysis' refers to the dentary FMA:52748 GAID:68 MA:0001487 MESH:A02.835.232.781.324.502.632 SCTID:181812008 UBERON:0001684 UMLS:C0024687 Wikipedia:Human_mandible galen:Mandible http://upload.wikimedia.org/wikipedia/commons/6/64/Gray176.png http://upload.wikimedia.org/wikipedia/commons/thumb/6/64/Gray176.png/200px-Gray176.png inferior maxillary bone lower jaw lower jaw bone lower mandibula mammaliam mandible mandibula mandibular mandibular series mandibulla ncithesaurus:Mandible uberon A dentary bone that is the only bone in one of the lateral halves of the lower jaw skeleton. Wikipedia:Human_mandible Wikipedia:Mandible lower jaw lower jaw bone Wikipedia:Mandible lower mandibula ZFA:0001273 mandibular series BTO:0001748 mandibula Wikipedia:Human_mandible mandibula external ear AAO:0011037 BTO:0002100 EFO:0004221 EHDAA2:0000462 EHDAA:3786 EMAPA:16991 EV:0100354 FMA:52781 GAID:104 MA:0000258 MAT:0000147 MESH:A09.246.272 MIAA:0000147 NIF_GrossAnatomy:birnlex_1705 OpenCyc:Mx4rwOHtXJwpEbGdrcN5Y29ycA Part of the ear external to the tympanum (eardrum). It consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]. SCTID:181176000 Some species, like Amolops tormotus (Feng et al. 2006), have a cavity in front of the tympanic membrane which is considered to be an ear canal and thus an outer ear. (...) The ancestral lineage of amphibians separated from the mammalian lineage, approximately 350 million years ago, in the paleozoic era. Many of the important developments in the auditory systems emerged after the ancestral paths separated (Manley and Clack 2003). This implies that shared features, like the tympanic middle ear, developed independently in different vertebrate lineages.[uncertain][VHOG] The external part of the organ, which consists of an outer portion (external auditory meatus) which leads to the tympanum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] This class was created automatically from a combination of ontologies UBERON:0001691 UMLS:C0013453 VHOG:0000311 Wikipedia:External_ear XAO:0000190 auricular region auricular region of head auris externa http://upload.wikimedia.org/wikipedia/commons/thumb/2/29/Gray907.png/200px-Gray907.png ncithesaurus:External_Ear outer ear uberon MA:0000258 outer ear 2012-09-17 DOI:10.1007/s00359-008-0327-1 Schoffelen RLM, Segenhout JM, Van Dijk P, Mechanics of the exceptional anuran ear. Journal of Comparative Physiology A (2008) Some species, like Amolops tormotus (Feng et al. 2006), have a cavity in front of the tympanic membrane which is considered to be an ear canal and thus an outer ear. (...) The ancestral lineage of amphibians separated from the mammalian lineage, approximately 350 million years ago, in the paleozoic era. Many of the important developments in the auditory systems emerged after the ancestral paths separated (Manley and Clack 2003). This implies that shared features, like the tympanic middle ear, developed independently in different vertebrate lineages.[uncertain][VHOG] VHOG VHOG:0000311 http://bgee.unil.ch/ BTO:0002100 auris externa VHOG:0000311 GO:0042473 Part of the ear external to the tympanum (eardrum). It consists of a tube (the external auditory meatus) that directs sound waves on to the tympanum, and may also include the external pinna, which extends beyond the skull[GO]. Wikipedia:External_ear Wikipedia 2012-09-17 The external part of the organ, which consists of an outer portion (external auditory meatus) which leads to the tympanum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000311 http://bgee.unil.ch/ geniculate ganglion EFO:0003669 EHDAA2:0000491 EHDAA2:0004623 EHDAA:5567 EHDAA:6644 EMAPA:16983 EMAPA:17569 Editor notes: resolve facial VII vs geniculate (see EHDAA2) FMA:53414 GAID:718 MA:0001076 MESH:A08.340.390.380 SCTID:279076005 TAO:0001291 The geniculate ganglion is an L-shaped collection of fibers and sensory neurons of the facial nerve located in the facial canal of the head. It receives fibers from the motor, sensory, and parasympathetic components of the facial nerve and sends fibers that will innervate the lacrimal glands, submandibular glands, sublingual glands, tongue, palate, pharynx, external auditory meatus, stapedius, posterior belly of the digastric muscle, stylohyoid muscle, and muscles of facial expression. Sensory and parasympathetic inputs are carried into the geniculate ganglion via the nervus intermedius. Motor fibers are carried via the facial nerve proper. The greater petrosal nerve, which carries sensory fibers as well as preganglionic parasympathetic fibers, emerges from the anterior aspect of the ganglion. The geniculate ganglion is one of several ganglia of the head and neck. Like the others, it is a bilaterally distributed structure, with each side of the face having a geniculate ganglion. [WP,unvetted]. These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] UBERON:0001700 UMLS:C0017406 VHOG:0000707 Wikipedia:Geniculate_ganglion ZFA:0001291 facial VII ganglion facial ganglion gVII ganglion genicularum ganglion geniculi ganglion geniculi nervi facialis genicular ganglion geniculate geniculate ganglion http://upload.wikimedia.org/wikipedia/commons/7/7d/Gray789.png http://upload.wikimedia.org/wikipedia/commons/thumb/7/7d/Gray789.png/200px-Gray789.png internal genu ncithesaurus:Geniculate_Ganglion uberon Wikipedia:Geniculate_ganglion internal genu Wikipedia:Geniculate_ganglion genicular ganglion ZFA:0001291 facial ganglion MA:0001076 facial VII ganglion 2012-09-17 DOI:10.1046/j.1469-7580.2001.19910133.x Graham A. The development and evolution of the pharyngeal arches. J Anat (2001) These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] VHOG VHOG:0000707 http://bgee.unil.ch/ Wikipedia:Geniculate_ganglion geniculate FMA:53414 ganglion genicularum VHOG:0000707 Wikipedia:Geniculate_ganglion ganglion geniculi Wikipedia:Geniculate_ganglion ganglion geniculi nervi facialis ZFA:0001291 gVII MA:0001076 geniculate ganglion FMA:53414 genicular ganglion MA The geniculate ganglion is an L-shaped collection of fibers and sensory neurons of the facial nerve located in the facial canal of the head. It receives fibers from the motor, sensory, and parasympathetic components of the facial nerve and sends fibers that will innervate the lacrimal glands, submandibular glands, sublingual glands, tongue, palate, pharynx, external auditory meatus, stapedius, posterior belly of the digastric muscle, stylohyoid muscle, and muscles of facial expression. Sensory and parasympathetic inputs are carried into the geniculate ganglion via the nervus intermedius. Motor fibers are carried via the facial nerve proper. The greater petrosal nerve, which carries sensory fibers as well as preganglionic parasympathetic fibers, emerges from the anterior aspect of the ganglion. The geniculate ganglion is one of several ganglia of the head and neck. Like the others, it is a bilaterally distributed structure, with each side of the face having a geniculate ganglion. [WP,unvetted]. Wikipedia:Geniculate_ganglion nail BTO:0001719 CALOHA:TS-2034 EFO:0000956 EV:0100159 FMA:54326 GAID:1320 MA:0002703 MAT:0000158 MESH:A17.600 MIAA:0000158 OpenCyc:Mx4rvVjJv5wpEbGdrcN5Y29ycA SCTID:72651009 TODO: check claw vs nail. A primate's nail consists of the unguis alone; the subunguis has disappeared. UBERON:0001705 UMLS:C0027342 VHOG:0001361 Wikipedia:Nail_(anatomy) XAO:0003103 a horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. claw galen:Nail ncithesaurus:Nail talon uberon FMA VHOG:0001361 Wikipedia:Nail_(anatomy) a horn-like keratin structure covering the dorsal aspect of the terminal phalanges of fingers and toes[WP]. Wikipedia:Claw claw FMA cranial ganglion BTO:0000106 EFO:0000902 EMAPA:16659 Editor note: split out MA ter,. Note the MA term is part of the CNS. This needs to be checked w.r.t relationship between ganglia and the PNS, as the PNS and CNS are spatially disjoint. also meaning of MA term is not clear (appears to be union of nerve and ganglion, but MA 'cranial nerve' is unconnected) FMA:54502 Ganglion of a cranial nerve[cjm]. Ganglion which is located in the head.[TAO] MA:0000213 MA:0000214 MAT:0000200 MIAA:0000200 SCTID:244448001 TAO:0000013 UBERON:0001714 UBERON:0003213 VHOG:0000076 Wikipedia:Cranial_nerve_ganglion XAO:0000027 ZFA:0000013 cranial ganglia cranial ganglion cranial ganglion/nerve cranial nerve ganglion cranial neural ganglion cranial neural tree organ ganglion ganglion of cranial nerve ganglion of cranial neural tree organ head ganglion presumptive cranial ganglia uberon FMA:54502 ganglion of cranial nerve Ganglion of a cranial nerve[cjm]. Wikipedia:Cranial_nerve_ganglion VHOG:0000076 OBOL:automatic cranial neural tree organ ganglion OBOL:automatic ganglion of cranial neural tree organ 2012-08-14 Ganglion which is located in the head.[TAO] TAO TAO:0000013 ZFIN:curator ZFA:0000013 presumptive cranial ganglia oculomotor nuclear complex ABA:III BM:MB-III EFO:0002468 EHDAA2:0004211 EV:0100250 FMA:54510 MA:0001073 NIF_GrossAnatomy:birnlex_1240 SCTID:362457000 TAO:0000553 The fibers of the oculomotor nerve arise from a nucleus in the midbrain, which lies in the gray substance of the floor of the cerebral aqueduct and extends in front of the aqueduct for a short distance into the floor of the third ventricle. From this nucleus the fibers pass forward through the tegmentum, the red nucleus, and the medial part of the substantia nigra, forming a series of curves with a lateral convexity, and emerge from the oculomotor sulcus on the medial side of the cerebral peduncle. The nucleus of the oculomotor nerve does not consist of a continuous column of cells, but is broken up into a number of smaller nuclei, which are arranged in two groups, anterior and posterior. Those of the posterior group are six in number, five of which are symmetrical on the two sides of the middle line, while the sixth is centrally placed and is common to the nerves of both sides. The anterior group consists of two nuclei, an antero-medial and an antero-lateral . The nucleus of the oculomotor nerve, considered from a physiological standpoint, can be subdivided into several smaller groups of cells, each group controlling a particular muscle. A nearby nucleus, the Edinger-Westphal nucleus, is responsible for the autonomic functions of the oculomotor nerve, including pupillary constriction and lens accommodation. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001715 UMLS:C0228686 VHOG:0001389 Wikipedia:Nucleus_of_oculomotor_nerve ZFA:0000553 http://upload.wikimedia.org/wikipedia/commons/thumb/d/da/Cn3nucleus.png/200px-Cn3nucleus.png motor nucleus III nIII ncithesaurus:Oculomotor_Nucleus nucleus nervi oculomotorii nucleus of oculomotor nerve nucleus of third cranial nerve oculomotor III nucleus oculomotor nucleus third cranial nerve nucleus uberon ABA ABA ABA ABA MA:0001073 oculomotor III nucleus ABA VHOG:0001389 ABA ABA ABA ABA FMA:54510 FMA:TA nucleus nervi oculomotorii The fibers of the oculomotor nerve arise from a nucleus in the midbrain, which lies in the gray substance of the floor of the cerebral aqueduct and extends in front of the aqueduct for a short distance into the floor of the third ventricle. From this nucleus the fibers pass forward through the tegmentum, the red nucleus, and the medial part of the substantia nigra, forming a series of curves with a lateral convexity, and emerge from the oculomotor sulcus on the medial side of the cerebral peduncle. The nucleus of the oculomotor nerve does not consist of a continuous column of cells, but is broken up into a number of smaller nuclei, which are arranged in two groups, anterior and posterior. Those of the posterior group are six in number, five of which are symmetrical on the two sides of the middle line, while the sixth is centrally placed and is common to the nerves of both sides. The anterior group consists of two nuclei, an antero-medial and an antero-lateral . The nucleus of the oculomotor nerve, considered from a physiological standpoint, can be subdivided into several smaller groups of cells, each group controlling a particular muscle. A nearby nucleus, the Edinger-Westphal nucleus, is responsible for the autonomic functions of the oculomotor nerve, including pupillary constriction and lens accommodation. [WP,unvetted]. Wikipedia:Nucleus_of_oculomotor_nerve ABA tongue A mobile mass of muscular tissue that is covered with mucous membrane, occupies much of the cavity of the mouth, forms part of its floor, bears the organ of taste, and assists in chewing and swallowing. [TFD][VHOG] A muscular organ in the floor of the mouth. AAO:0010360 BTO:0001385 CALOHA:TS-1050 EFO:0000833 EHDAA2:0002062 EHDAA:9144 EMAPA:17185 EMAPA:18870 EV:0100058 FMA:54640 GAID:816 MA:0000347 MAT:0000040 MESH:A14.549.885 MIAA:0000040 Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG] Muscular organ in the floor of the mouth.[FEED] OpenCyc:Mx4rvVjmJ5wpEbGdrcN5Y29ycA_53KXLq9EdqAAAACs6hnmQ SCTID:181226008 TAO:0005333 The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech[GO][GO:0043586]. UBERON:0001723 UMLS:C0040408 VHOG:0000419 Wikipedia:Tongue XAO:0000446 ZFA:0005333 editor notes - in MA the tongue is part of the oral region, which in uberon is treated as the oral opening. consider revising oral opening - oral region equivalence. Taxon notes: Many species of fish have small folds at the base of their mouths that might informally be called tongues, but they lack a muscular structure like the true tongues found in most tetrapods. Development notes: The tongue has contributions from all pharyngeal arches which changes with time. The tongue initially begins as swelling rostral to foramen cecum, the median tongue bud.. tongue muscles derive from the somites - http://php.med.unsw.edu.au/embryology/index.php?title=Tongue_Development#Pharyngeal_Arch_Contributions glossal glossus http://upload.wikimedia.org/wikipedia/commons/a/a6/Tongue.agr.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/a/a6/Tongue.agr.jpg/200px-Tongue.agr.jpg lingual ncithesaurus:Tongue uberon 2012-07-02 FEED Muscular organ in the floor of the mouth.[FEED] http://www.feedexp.org A muscular organ in the floor of the mouth. FEED:rd GO:0043586 The tongue is the movable, muscular organ on the floor of the mouth of most vertebrates, in many other mammals is the principal organ of taste, aids in the prehension of food, in swallowing, and in modifying the voice as in speech[GO][GO:0043586]. MA 2012-09-17 A mobile mass of muscular tissue that is covered with mucous membrane, occupies much of the cavity of the mouth, forms part of its floor, bears the organ of taste, and assists in chewing and swallowing. [TFD][VHOG] VHOG VHOG:0000419 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/tongue VHOG:0000419 Wikipedia:Tongue glossus 2012-09-17 DOI:10.1046/j.1469-7580.2002.00073.x Iwasaki S, Evolution of the structure and function of the vertebrate tongue. J Anat (2002) Most adult amphibians have a tongue, as do all known reptiles, birds and mammals. Thus it is likely that the tongue appeared with the establishment of tetrapods and this structure seems to be related, to some extant, to the terrestrial lifestyle.[well established][VHOG] VHOG VHOG:0000419 http://bgee.unil.ch/ BTO FMA oropharynx CALOHA:TS-0718 EFO:0001976 EHDAA2:0004082 EMAPA:25094 EV:0100067 FMA:54879 GAID:340 MA:0000351 MAT:0000446 MESH:A03.867.603 One of the three anatomic divisions of the pharynx that lies posterior to the mouth and is continuous above with the nasopharynx and below with the laryngopharynx. It extends behind the mouth from the soft palate above to the level of the hyoid bone below and contains the palatine and lingual tonsils. [TFD][VHOG] OpenCyc:Mx4rwACoxpwpEbGdrcN5Y29ycA SCTID:263376008 The Oropharynx (oral part of the pharynx) reaches from the Uvula to the level of the hyoid bone. It opens anteriorly, through the isthmus faucium, into the mouth, while in its lateral wall, between the two palatine arches, is the palatine tonsil. [WP,unvetted]. UBERON:0001729 UMLS:C0521367 VHOG:0000457 VSAO:0000034 Wikipedia:Oropharynx XAO:0004048 http://upload.wikimedia.org/wikipedia/commons/4/4a/Illu_pharynx.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/4/4a/Illu_pharynx.jpg/200px-Illu_pharynx.jpg mesopharynx ncithesaurus:Oropharynx oral part of pharynx oropharyngeal pars oralis pharyngis uberon The Oropharynx (oral part of the pharynx) reaches from the Uvula to the level of the hyoid bone. It opens anteriorly, through the isthmus faucium, into the mouth, while in its lateral wall, between the two palatine arches, is the palatine tonsil. [WP,unvetted]. Wikipedia:Oropharynx VHOG:0000457 2012-09-17 One of the three anatomic divisions of the pharynx that lies posterior to the mouth and is continuous above with the nasopharynx and below with the laryngopharynx. It extends behind the mouth from the soft palate above to the level of the hyoid bone below and contains the palatine and lingual tonsils. [TFD][VHOG] VHOG VHOG:0000457 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/oropharynx Wikipedia:Pharynx mesopharynx Wikipedia:Oropharynx pars oralis pharyngis uvula Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. The uvula, hanging from the end of the soft palate, is responsible for the sound of snoring. Touching the uvula or the end of the soft palate evokes a strong gag reflex in most people. EFO:0001386 FMA:55022 GAID:1285 MESH:A14.549.617.780.729 SCTID:362082005 UBERON:0001734 UMLS:C0042173 Wikipedia:Palatine_uvula http://upload.wikimedia.org/wikipedia/commons/8/81/Tonsils_diagram.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/8/81/Tonsils_diagram.jpg/200px-Tonsils_diagram.jpg ncithesaurus:Uvula palatine uvula seeAlso - bifid uvula and cleft palate uberon uvula of palate uvula palatina Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers. The uvula, hanging from the end of the soft palate, is responsible for the sound of snoring. Touching the uvula or the end of the soft palate evokes a strong gag reflex in most people. Wikipedia:Palatine_uvula Wikipedia:Palatine_uvula uvula palatina FMA:55022 FMA:TA uvula palatina submandibular gland BTO:0001316 CALOHA:TS-0988 EFO:0001387 EMAPA:18812 EV:0100061 Either of two major salivary glands situated in the neck near the lower edge of each side of the mandible and emptying into the submandibular duct. [TFD][VHOG] FMA:55093 GAID:942 MA:0001589 MESH:A10.336.779.812 SCTID:181235001 The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG] The paired submandibular glands (submaxillary glands) are salivary glands located beneath the floor of the mouth. In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted]. UBERON:0001736 UMLS:C0038556 VHOG:0000364 Wikipedia:Submandibular_gland glandula submandibularis http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/5/51/Illu_quiz_hn_02.jpg/200px-Illu_quiz_hn_02.jpg lobular, sexually dimorphic in mouse ncithesaurus:Submandibular_Gland submandibular salivary gland submaxillary gland uberon The paired submandibular glands (submaxillary glands) are salivary glands located beneath the floor of the mouth. In humans, they account for 70% of the salivary volume and weigh about 15 grams. [WP,unvetted]. Wikipedia:Submandibular_gland 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.525 The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG] VHOG VHOG:0000364 http://bgee.unil.ch/ Wikipedia:Submandibular_gland glandula submandibularis VHOG:0000364 2012-09-17 Either of two major salivary glands situated in the neck near the lower edge of each side of the mandible and emptying into the submandibular duct. [TFD][VHOG] VHOG VHOG:0000364 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/submandibular+gland larynx (In anura) a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) (In mammals) Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG] AAO:0000268 An anatomical cluster consisting of the epiglottus, the arytenoid cartilages, the thyroid cartilage, the cricoid cartilage and the muscles, membranes, and ligaments connecting them, and also of the mucosal covering these structures.[FEED] Anatomical structure consisting of a narrowly triangular chamber supported by a series of semicircular cartilages in which part of the sound-production system is located.[AAO] BTO:0001208 CALOHA:TS-0532 EFO:0000838 EHDAA2:0004063 EMAPA:18333 EV:0100039 FMA:55097 GAID:108 Heterogeneous cluster that connects the pharynx to the tracheobronchial tree[FMA]. MA:0000414 MAT:0000187 MESH:A04.329 MIAA:0000187 OpenCyc:Mx4rvViOnZwpEbGdrcN5Y29ycA SCTID:181212004 This class was created automatically from a combination of ontologies UBERON:0001737 UMLS:C0023078 VHOG:0001279 Wikipedia:Larynx XAO:0003081 galen:Larynx http://upload.wikimedia.org/wikipedia/commons/8/8a/Larynx_external_en.svg laryngeal ncithesaurus:Larynx uberon VHOG:0001279 FMA:55097 Heterogeneous cluster that connects the pharynx to the tracheobronchial tree[FMA]. Wikipedia:Larynx 2012-07-02 An anatomical cluster consisting of the epiglottus, the arytenoid cartilages, the thyroid cartilage, the cricoid cartilage and the muscles, membranes, and ligaments connecting them, and also of the mucosal covering these structures.[FEED] FEED http://www.feedexp.org (In anura) a dorsal pair of arytenoid cartilages (...), which support vocal cords, and a ventral pair (often fused) of cricoid cartilage (...). These cartilages are regarded as derivatives of posterior visceral arches of ancestors. Together they constitute the larynx, a structure characteristic of tetrapods. (...) (In mammals) Paired arytenoid cartilages help support and control the vocal cords. The cricoid cartilage is single. Two additional cartilages are present that are lacking in other vertebrates: a large ventral thyroid cartilage (...) and a cartilage in the epiglottis.[well established][VHOG] 2012-09-17 ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.239-241 VHOG VHOG:0001279 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0000268 AAO:BJB Anatomical structure consisting of a narrowly triangular chamber supported by a series of semicircular cartilages in which part of the sound-production system is located.[AAO] lymphoid tissue lymphocytic tissue Portion of connective tissue with various types of white blood cells enmeshed in it, most numerous being the lymphocytes FMA:55220 lymphatic tissue vagus nerve AAO:0010475 BTO:0003472 CN-X Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart). EFO:0002549 FMA:5731 GAID:721 MA:0001106 MESH:A08.800.050.050.925 NIF_GrossAnatomy:birnlex_801 Nerve consisting of branchiomotor and visceral efferent fibers which branch and innervate the smooth muscles and glands of the heart, lungs, esophagus, and stomach as well as some throat muscles. Sensory fibers supply mucosa of the mouth and pharynx.[AAO] OpenCyc:Mx4rviHk2ZwpEbGdrcN5Y29ycA SCTID:362466001 TAO:0000453 This class was created automatically from a combination of ontologies UBERON:0001759 UMLS:C0042276 VHOG:0000737 Vagus nerve [X] We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] Wikipedia:Vagus_nerve XAO:0003097 ZFA:0000453 cranial nerve X galen:VagusNerve http://upload.wikimedia.org/wikipedia/commons/5/5e/Gray791.png http://upload.wikimedia.org/wikipedia/commons/thumb/5/5e/Gray791.png/200px-Gray791.png ncithesaurus:Vagus_Nerve nervus vagus nervus vagus [x] pneuomgastric nerve tenth cranial nerve uberon vagal nerve vagus vagus X nerve vagus nerve tree BTO:0003472 pneuomgastric nerve Cranial nerve that branches into the lateral (to body sense organs) and the intestino-accessorial (to the skin, muscles of shoulder, hyoid, larynx, gut, lungs, and heart). ISBN:0471209627 Wikipedia:Vagus_nerve 2012-06-20 AAO AAO:0010475 AAO:EJS Nerve consisting of branchiomotor and visceral efferent fibers which branch and innervate the smooth muscles and glands of the heart, lungs, esophagus, and stomach as well as some throat muscles. Sensory fibers supply mucosa of the mouth and pharynx.[AAO] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.625 VHOG VHOG:0000737 We conclude this section by listing some of the many synapomorphies of craniates, including (...) (5) cranial nerves (...) (reference 1); Phylogenetically, the cranial nerves are thought to have evolved from dorsal and ventral nerves of a few anterior spinal nerves that became incorporated into the braincase. Dorsal and ventral nerves fuse in the trunk but not in the head, and they produce two series: dorsal cranial nerves (V, VII, IX, and X) and ventral cranial nerves (III, IV, VI, and XIII) (reference 2).[well established][VHOG] http://bgee.unil.ch/ BTO:0003472 nervus vagus MA:0001106 vagus X nerve VHOG:0000737 Wikipedia:Vagus_nerve nervus vagus FMA:5731 FMA:TA nervus vagus [x] iris AAO:0010347 BTO:0000653 CALOHA:TS-0491 EFO:0004245 EMAPA:19154 EV:0100345 FMA:58235 GAID:917 MA:0000273 MESH:A09.371.894.513 OpenCyc:Mx4rvVjbppwpEbGdrcN5Y29ycA SCTID:181164000 TAO:0001238 Taxon notes: The avian iris and ciliary body undergoes a transition from smooth-to-striated muscle during embryonic development - dx.doi.org/10.1006/dbio.1998.9019 The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] The opaque muscular contractile diaphragm suspended in the aqueous humour in front of the lens of the eye. The organ is perforated by the pupil and continues peripherally with the ciliary body. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:0001769 UMLS:C0022077 VHOG:0000101 Wikipedia:Iris_(anatomy) XAO:0000185 ZFA:0001238 a membrane in the eye, responsible for controlling the amount of light reaching the retina. The iris consists of pigmented fibrovascular tissue known as a stroma. It is the most forward portion of the eye and the only one seen on superficial inspection. The stroma connects a sphincter muscle (sphincter pupillae), which contracts the pupil, and a set of dilator muscles (dilator pupillae) which open it. The back surface is covered by a heavily pigmented epithelial layer two cells thick (the iris pigment epithelium), but the front surface has no epithelium. The high pigment content blocks light from passing through the iris and restricts it to the pupil. The outer edge of the iris, known as the root, is attached to the sclera and the anterior ciliary body. The iris and ciliary body together are known as the anterior uvea. Just in front of the root of the iris is the region through which the aqueous humour constantly drains out of the eye, with the result that diseases of the iris often have important effects on intraocular pressure, and indirectly on vision. Depending on the amount of light, the iris makes the pupil larger or smaller. anterior uvea irises ncithesaurus:Iris uberon VHOG:0000101 irises 2012-09-17 DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007) The eye of the adult lamprey is remarkably similar to our own, and it possesses numerous features (including the expression of opsin genes) that are very similar to those of the eyes of jawed vertebrates. The lamprey's camera-like eye has a lens, an iris and extra-ocular muscles (five of them, unlike the eyes of jawed vertebrates, which have six), although it lacks intra-ocular muscles. Its retina also has a structure very similar to that of the retinas of other vertebrates, with three nuclear layers comprised of the cell bodies of photoreceptors and bipolar, horizontal, amacrine and ganglion cells. The southern hemisphere lamprey, Geotria australis, possesses five morphological classes of retinal photoreceptor and five classes of opsin, each of which is closely related to the opsins of jawed vertebrates. Given these similarities, we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya.[well established][VHOG] VHOG VHOG:0000101 http://bgee.unil.ch/ 2012-09-17 The opaque muscular contractile diaphragm suspended in the aqueous humour in front of the lens of the eye. The organ is perforated by the pupil and continues peripherally with the ciliary body. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000101 http://bgee.unil.ch/ Wikipedia:Iris_(anatomy) a membrane in the eye, responsible for controlling the amount of light reaching the retina. The iris consists of pigmented fibrovascular tissue known as a stroma. It is the most forward portion of the eye and the only one seen on superficial inspection. The stroma connects a sphincter muscle (sphincter pupillae), which contracts the pupil, and a set of dilator muscles (dilator pupillae) which open it. The back surface is covered by a heavily pigmented epithelial layer two cells thick (the iris pigment epithelium), but the front surface has no epithelium. The high pigment content blocks light from passing through the iris and restricts it to the pupil. The outer edge of the iris, known as the root, is attached to the sclera and the anterior ciliary body. The iris and ciliary body together are known as the anterior uvea. Just in front of the root of the iris is the region through which the aqueous humour constantly drains out of the eye, with the result that diseases of the iris often have important effects on intraocular pressure, and indirectly on vision. Depending on the amount of light, the iris makes the pupil larger or smaller. VHOG:0000101 corneal epithelium BTO:0000287 CALOHA:TS-0173 EFO:0001917 EHDAA2:0000319 EMAPA:17162 FMA:58263 GAID:895 MA:0001243 MESH:A09.371.060.217.325 Portion of tissue comprised of four to six layers of nonkeratinized, stratified squamous cells and represents approximately 60% of the thickness of the cornea.[TAO] SCTID:15775008 TAO:0002187 Taxon notes: In zebrafish: nonpigmented, stratified squamous nonkeratinizing epithelial cells, attached to a thick basement membrane that is considered to be analogous to the Bowman’s membrane in mammals The corneal epithelium (epithelium corneæ anterior layer) is made up of epithelial tissue and covers the front of the cornea. It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei. [WP,unvetted]. UBERON:0001772 UMLS:C0459875 Wikipedia:Corneal_epithelium ZFA:0001683 anterior corneal epithelium anterior endothelium of cornea cornea epithelial tissue cornea epithelium e. anterius corneae endothelium anterius corneae endothelium camerae anterioris bulbi endothelium corneale epithelial tissue of cornea epithelium anterius (cornea) epithelium anterius corneae epithelium of cornea epithelium posterius corneae external epithelium of cornea http://upload.wikimedia.org/wikipedia/commons/6/66/Gray871.png http://upload.wikimedia.org/wikipedia/commons/thumb/6/66/Gray871.png/200px-Gray871.png ncithesaurus:Corneal_Epithelium uberon BTO:0000287 anterior endothelium of cornea BTO:0000287 endothelium camerae anterioris bulbi OBOL:automatic cornea epithelium OBOL:automatic cornea epithelial tissue The corneal epithelium (epithelium corneæ anterior layer) is made up of epithelial tissue and covers the front of the cornea. It consists of several layers of cells. The cells of the deepest layer are columnar; then follow two or three layers of polyhedral cells, the majority of which are prickle cells similar to those found in the stratum mucosum of the cuticle. Lastly, there are three or four layers of squamous cells, with flattened nuclei. [WP,unvetted]. Wikipedia:Corneal_epithelium BTO:0000287 epithelium posterius corneae OBOL:automatic epithelial tissue of cornea BTO:0000287 endothelium anterius corneae BTO:0000287 endothelium corneale 2012-08-14 Portion of tissue comprised of four to six layers of nonkeratinized, stratified squamous cells and represents approximately 60% of the thickness of the cornea.[TAO] TAO TAO:0002187 ZFIN:ZDB-PUB-061010-3 FMA:58263 FMA:TA epithelium anterius corneae Wikipedia:Corneal_epithelium e. anterius corneae optic disc (...) we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya (reference 1); Although the eye varies greatly in adaptative details among vertebrates, its basic structure is the same in all. The human eye is representative of the design typical for a tetrapod (reference 2).[well established][VHOG] CALOHA:TS-2153 EFO:0001974 EHDAA2:0001307 EHDAA:9077 EMAPA:18238 EMAPA:25088 FMA:58634 MA:0000278 MESH:A08.800.800.120.680.660 SCTID:362518006 The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]. The small blind spot on the surface of the retina. It is the point where the fibers of the retina leave the eye and become part of the optic nerve. [TFD][VHOG] UBERON:0001783 UMLS:C0029127 VHOG:0000551 Wikipedia:Optic_disc http://upload.wikimedia.org/wikipedia/commons/e/ed/Gray879.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/ed/Gray879.png/200px-Gray879.png ncithesaurus:Optic_Disc optic disk optic nerve disc optic nerve head optic papilla physiologic blind spot physiologic blind spot of mariotte uberon Wikipedia:Optic_disc optic papilla Wikipedia:Optic_disc optic nerve head Wikipedia:Optic_disc optic nerve disc VHOG:0000551 MESH:A08.800.800.120.680.660 optic disk Wikipedia:Optic_disc physiologic blind spot of mariotte 2012-09-17 The small blind spot on the surface of the retina. It is the point where the fibers of the retina leave the eye and become part of the optic nerve. [TFD][VHOG] VHOG VHOG:0000551 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/optic+disc Wikipedia:Optic_disc optic disk (...) we reach the inescapable conclusion that the last common ancestor of jawless and jawed vertebrates already possessed an eye that was comparable to that of extant lampreys and gnathostomes. Accordingly, a vertebrate camera-like eye must have been present by the time that lampreys and gnathostomes diverged, around 500 Mya (reference 1); Although the eye varies greatly in adaptative details among vertebrates, its basic structure is the same in all. The human eye is representative of the design typical for a tetrapod (reference 2).[well established][VHOG] 2012-09-17 DOI:10.1038/nrn2283 Lamb TD, Collin SP and Pugh EN Jr, Evolution of the vertebrate eye: opsins, photoreceptors, retina and eye cup. Nature Reviews Neuroscience (2007), ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.424 and p.426 and p.429 and Figure 12-24 VHOG VHOG:0000551 http://bgee.unil.ch/ The optic disc or optic nerve head is the location where ganglion cell axons exit the eye to form the optic nerve. There are no light sensitive rods or cones to respond to a light stimulus at this point. This causes a break in the visual field called 'the blind spot' or the 'physiological blind spot'. The optic nerve head in a normal human eye carries from 1 to 1.2 million neurons from the eye towards the brain. [WP,unvetted]. Wikipedia:Optic_disc Wikipedia:Optic_disc physiologic blind spot conjunctiva AAO:0010343 BTO:0003415 CALOHA:TS-2232 EFO:0000374 EV:0100340 FMA:59011 GAID:898 MA:0000265 MESH:A09.371.192 SCTID:181161008 The conjunctiva is a clear mucous membrane consisting of cells and underlying basement membrane that covers the sclera (white part of the eye) and lines the inside of the eyelids. It is made of epithelial tissue. [WP,unvetted]. UBERON:0001811 UMLS:C0009758 Wikipedia:Conjunctiva XAO:0000182 conjunctival http://upload.wikimedia.org/wikipedia/commons/5/55/Gray883.png http://upload.wikimedia.org/wikipedia/commons/thumb/5/55/Gray883.png/200px-Gray883.png ncithesaurus:Conjunctiva uberon wall of conjunctival sac The conjunctiva is a clear mucous membrane consisting of cells and underlying basement membrane that covers the sclera (white part of the eye) and lines the inside of the eyelids. It is made of epithelial tissue. [WP,unvetted]. Wikipedia:Conjunctiva lacrimal gland BTO:0000044 CALOHA:TS-0512 EFO:0001389 EV:0100339 FMA:59101 Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands[FMA]. The lacrimal glands are paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film. They are situated in the upper, outer portion of each orbit. Inflammation of the lacrimal glands is called dacryoadenitis[WP]. MA:0001296 SCTID:181147003 The preorbital gland is a paired exocrine gland found in many species of hoofed animals, which is homologous to the lacrimal gland found in humans. These glands are trenchlike slits of dark blue to black, nearly bare skin extending from the medial canthus of each eye. They are lined by a combination of sebaceous and sudoriferous glands, and they produce secretions which contain pheromones and other semiochemical compounds. Ungulates frequently deposit these secretions on twigs and grass as a means of communication with other animals. The preorbital gland serves different roles in different species. Pheromone-containing secretions from the preorbital gland may serve to establish an animal's dominance (especially in preparation for breeding), mark its territory, or simply to produce a pleasurable sensation to the animal. Because of its critical role in scent marking, the preorbital gland is usually considered as a type of scent gland. A further function of these glands may be to produce antimicrobial compounds against skin pathogens. Antimicrobial compounds found in these glands may be biosynthesized by the animal itself, or by microorganisms that live in these glands[Wikipedia:Preorbital_gland]. UBERON:0001817 UMLS:C0022907 VHOG:0001476 Wikipedia:Lacrimal_gland glandula lacrimalis http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray896.png http://upload.wikimedia.org/wikipedia/commons/thumb/c/cf/Gray896.png/200px-Gray896.png ncithesaurus:Lacrimal_Gland preorbital gland tear gland uberon Wikipedia:Preorbital_gland preorbital gland Lobular organ the parenchyma of which consists of glandular acini which communicate the lacrimal sac. Examples: There only two instances, right lacrimal and left lacrimal glands[FMA]. The lacrimal glands are paired almond-shaped glands, one for each eye, that secrete the aqueous layer of the tear film. They are situated in the upper, outer portion of each orbit. Inflammation of the lacrimal glands is called dacryoadenitis[WP]. Wikipedia:Lacrimal_gland VHOG:0001476 Wikipedia:Lacrimal_gland glandula lacrimalis The preorbital gland is a paired exocrine gland found in many species of hoofed animals, which is homologous to the lacrimal gland found in humans. These glands are trenchlike slits of dark blue to black, nearly bare skin extending from the medial canthus of each eye. They are lined by a combination of sebaceous and sudoriferous glands, and they produce secretions which contain pheromones and other semiochemical compounds. Ungulates frequently deposit these secretions on twigs and grass as a means of communication with other animals. The preorbital gland serves different roles in different species. Pheromone-containing secretions from the preorbital gland may serve to establish an animal's dominance (especially in preparation for breeding), mark its territory, or simply to produce a pleasurable sensation to the animal. Because of its critical role in scent marking, the preorbital gland is usually considered as a type of scent gland. A further function of these glands may be to produce antimicrobial compounds against skin pathogens. Antimicrobial compounds found in these glands may be biosynthesized by the animal itself, or by microorganisms that live in these glands[Wikipedia:Preorbital_gland]. Wikipedia:Preorbital_gland BTO:0000044 tear gland gingiva BTO:0000519 CALOHA:TS-2074 EFO:0001925 EV:0100064 Editor notes: FMA has a 3-level breakdown of jaws into: region, jaw (skeleton+gums), skeleton. FMA:59762 GAID:1257 MA:0000342 MESH:A14.254.646.480 OpenCyc:Mx4rvViWnZwpEbGdrcN5Y29ycA SCTID:181224006 The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]. UBERON:0001828 UMLS:C0017562 VHOG:0001269 Wikipedia:Gingiva galen:Gingiva gingival gingival mucosa gum gum tissue gums http://upload.wikimedia.org/wikipedia/commons/2/2e/Tooth_Section.svg http://upload.wikimedia.org/wikipedia/commons/thumb/2/2e/Tooth_Section.svg/200px-Tooth_Section.svg.png ncithesaurus:Gingiva uberon FMA:59762 gum gum tissue https://orcid.org/0000-0002-6601-2165 VHOG:0001269 ISBN10:0013002015 The fibrous investing tissue, covered by keratinized epithelium, that immediately surrounds a tooth and is contiguous with its periodontal ligament and with the mucosal tissues of the mouth[Glossary of Periodontal Terms 2001]. Wikipedia:Gingiva parotid gland A mammalian salivary gland located caudal to the ear. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-22, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] AAO:0010095 BTO:0001004 CALOHA:TS-0748 EFO:0002558 EMAPA:18537 EV:0100060 FMA:59790 GAID:938 MA:0001585 MESH:A10.336.779.464 OpenCyc:Mx4rvqwyg5wpEbGdrcN5Y29ycA SCTID:181234002 The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG] The mouse parotid, exorbital lacrimal gland and exocrine pancreas have similar histological appearances[ISBN10:0123813611] The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]. UBERON:0001831 UMLS:C0030580 VHOG:0000308 Wikipedia:Parotid_gland galen:ParotidGland glandula parotidea http://upload.wikimedia.org/wikipedia/commons/5/51/Illu_quiz_hn_02.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/5/51/Illu_quiz_hn_02.jpg/200px-Illu_quiz_hn_02.jpg ncithesaurus:Parotid_Gland parotid uberon The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]. Wikipedia:Parotid_gland VHOG:0000308 2012-09-17 A mammalian salivary gland located caudal to the ear. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-22, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] VHOG VHOG:0000308 http://bgee.unil.ch/ Wikipedia:Parotid_gland glandula parotidea 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.525 The most common oral glands in mammals are the salivary glands. There are usually three primary pairs of salivary glands, named for their approximate positions: mandibular (submandibular or submaxillary), sublingual, and parotid.[well established][VHOG] VHOG VHOG:0000308 http://bgee.unil.ch/ cochlea A spiral-shaped cavity in the petrous portion of the temporal bone of the inner ear, containing the nerve endings essential for hearing and forming one of the divisions of the labyrinth. [TFD][VHOG] AAO:0000253 AO notes: sources vary in connection to bony labyrinth. Taxon notes: The association with 'lagena' in frog and fish comes from HOG, although HOG is inconsistent here, associating lagena with XAO cochlea and ZFA cochlear duct. NBK53175 says: "In contrast, the ventrally located auditory chambers have undergone more extensive evolutionary modifications. The saccule and lagena are prominent auditory organs in fish but the saccule has a vestibular role in mammals and birds, and the lagena is absent in mammals. The primary au- ditory organ in mammals and birds is the cochlea, which has no known counterpart in amphibians and fish (Riley and Phillips, 2003)" BTO:0000267 Because achieving high sensitivity is generally advantageous for auditory organs, it is not surprising that evidence for cochlear amplification is also seen in nonmammals. Spontaneous otoacoustic emissions (SOAEs) are narrow-band sound signals emitted from the inner ear, and it is generally assumed that their energy derives from the hair-cell molecular motors underlying cochlear amplification. However, all terrestrial vertebrates studied so far (including amphibians) show very similar SOAEs. The most parsimonious explanation for the universality of this phenomena is that some kind of amplifying mechanism is at least as old as land vertebrates themselves.[well established][VHOG] CALOHA:TS-0151 EFO:0000357 EMAPA:17597 EV:0100363 FMA:60201 GAID:724 MA:0000240 MAT:0000144 MESH:A09.246.631.246 MIAA:0000144 NIF_GrossAnatomy:birnlex_1190 NIF_GrossAnatomy_RETIRED:birnlex_883 OpenCyc:Mx4rvqfJmJwpEbGdrcN5Y29ycA SCTID:181187008 TAO:0000374 The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]. UBERON:0001844 UMLS:C0009195 VHOG:0000691 Wikipedia:Cochlea XAO:0000197 ZFA:0000374 cochleae cochlear cochlear duct cochlear organ cochlear part of bony labyrinth http://upload.wikimedia.org/wikipedia/commons/c/cb/Cochlea-crosssection.svg http://upload.wikimedia.org/wikipedia/commons/thumb/c/c7/Cochlea-crosssection.png/200px-Cochlea-crosssection.png lagena ncithesaurus:Cochlea uberon XAO:0000197 lagena VHOG:0000691 BTO:0000267 cochlear organ The cochlea is the auditory portion of the inner ear. Its core component is the Organ of Corti, the sensory organ of hearing, which is distributed along the partition separating fluid chambers in the coiled tapered tube of the cochlea. The name is from the Latin for snail, which is from the Greek kokhlias 'snail, screw,' from kokhlos 'spiral shell,' in reference to its coiled shape; the cochlea is coiled in most mammals, monotremes being the exceptions. [WP,unvetted]. Wikipedia:Cochlea cochleae 2012-09-17 A spiral-shaped cavity in the petrous portion of the temporal bone of the inner ear, containing the nerve endings essential for hearing and forming one of the divisions of the labyrinth. [TFD][VHOG] VHOG VHOG:0000691 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/cochlea 2012-09-17 Because achieving high sensitivity is generally advantageous for auditory organs, it is not surprising that evidence for cochlear amplification is also seen in nonmammals. Spontaneous otoacoustic emissions (SOAEs) are narrow-band sound signals emitted from the inner ear, and it is generally assumed that their energy derives from the hair-cell molecular motors underlying cochlear amplification. However, all terrestrial vertebrates studied so far (including amphibians) show very similar SOAEs. The most parsimonious explanation for the universality of this phenomena is that some kind of amplifying mechanism is at least as old as land vertebrates themselves.[well established][VHOG] DOI:10.1016/S0959-4388(98)80033-0 Manley GA, Koeppl C, Phylogenetic development of the cochlea and its innervation. Current Opinion in Neurobiology (1998) VHOG VHOG:0000691 http://bgee.unil.ch/ internal ear AAO:0000238 BTO:0000630 CALOHA:TS-0478 Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation. EFO:0001363 EHDAA2:0000831 EHDAA:504 EMAPA:16194 EV:0100361 FMA:60909 GAID:871 MA:0000237 MAT:0000145 MESH:A09.246.631 MIAA:0000145 NIF_GrossAnatomy:birnlex_1196 OpenCyc:Mx4rwJ8SsJwpEbGdrcN5Y29ycA SCTID:181189006 TAO:0000217 The auditory (hearing) and vestibular (balance) organ of the fish, equivalent to the inner ear of amniotes. (See Anatomical Atlas entry for ear by T. Whitfield.)[TAO] The labyrinth, or inner ear, evolved very early in vertebrate history and, with many variations in configuration but none of basic design and function, has been retained by all vertebrates.[well established][VHOG] This class was created automatically from a combination of ontologies UBERON:0001846 UMLS:C0022889 VHOG:0000284 Wikipedia:Internal_ear XAO:0000192 ZFA:0000217 auris interna galen:InnerEar http://upload.wikimedia.org/wikipedia/commons/thumb/1/19/Gray923.png/200px-Gray923.png inner ear labyrinth ncithesaurus:Internal_Ear otocyst uberon VHOG:0000284 BTO:0000630 auris interna Complex labyrinthine structure that comprises sensory endorgans specialized for vestibular, auditory, and acoustico-vestibular sensation. PMID:16217737 Wikipedia:Internal_ear ZFIN:curator 2012-08-14 TAO TAO:0000217 The auditory (hearing) and vestibular (balance) organ of the fish, equivalent to the inner ear of amniotes. (See Anatomical Atlas entry for ear by T. Whitfield.)[TAO] ZFIN:curator 2012-09-17 ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.366 The labyrinth, or inner ear, evolved very early in vertebrate history and, with many variations in configuration but none of basic design and function, has been retained by all vertebrates.[well established][VHOG] VHOG VHOG:0000284 http://bgee.unil.ch/ cerebral hemisphere AAO:0010480 BTO:0000231 CALOHA:TS-2007 EFO:0002521 FMA:61817 MA:0000133 NIF_GrossAnatomy:birnlex_1042 One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA] OpenCyc:Mx4rvigx5ZwpEbGdrcN5Y29ycA Part of the telencephalon consisting of either of the two smooth, elongated halves of the cerebrum.[AAO] SCTID:278251007 The presence of paired evaginated hemispheres and olfactory bulbs in both agnathan and gnathostome radiations suggests that such hemispheres were also present in the common ancestor.[well established][VHOG] UBERON:0001869 UMLS:C0228174 VHOG:0001639 Wikipedia:Cerebral_hemisphere galen:CerebralHemisphere hemisphere hemispherium cerebri http://upload.wikimedia.org/wikipedia/commons/9/92/Hemispheres.png ncithesaurus:Cerebral_Hemisphere telencephalic vesicle uberon Wikipedia:Cerebral_hemisphere hemispherium cerebri VHOG:0001639 hemisphere VHOG:0001639 2012-09-17 DOI:10.1146/annurev.ne.04.030181.001505 Northcutt RG, Evolution of the telencephalon in nonmammals. Ann. Rev. Neurosci. (1981) The presence of paired evaginated hemispheres and olfactory bulbs in both agnathan and gnathostome radiations suggests that such hemispheres were also present in the common ancestor.[well established][VHOG] VHOG VHOG:0001639 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010480 AAO:BJB Part of the telencephalon consisting of either of the two smooth, elongated halves of the cerebrum.[AAO] FMA:FMA One of two bilateral, largely symmetrical organ subdivisions within the telencephalon which contain the cerebral cortex and cerebral white matter.[FMA] Wikipedia:Cerebral_hemisphere frontal cortex BM:Tel-Cx-FR BTO:0000484 CALOHA:TS-0389 EFO:0000913 EV:0100167 Editor note: Many species don't have lobes but they do have frontal cortex. Lobe isn't a really well defined term though [MM] FMA:61824 Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border. GAID:674 MA:0000905 MAT:0000505 MESH:A08.186.211.730.885.213.270 NIF_GrossAnatomy:birnlex_928 NIF_GrossAnatomy:nlx_anat_20090601 OpenCyc:Mx4rv3OJ8JwpEbGdrcN5Y29ycA SCTID:180920004 UBERON:0001870 UMLS:C0016733 Wikipedia:Frontal_lobe frontal lobe frontal region http://upload.wikimedia.org/wikipedia/commons/b/b4/Gray729.png http://upload.wikimedia.org/wikipedia/commons/thumb/b/b4/Gray729.png/200px-Gray729.png lobus frontalis ncithesaurus:Frontal_Lobe regio frontalis uberon FMA:61824 FMA:TA regio frontalis FMA:61824 frontal lobe Wikipedia:Frontal_lobe lobus frontalis Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border. Wikipedia:Frontal_lobe temporal lobe BM:Tel-Cx-Te BTO:0001355 CALOHA:TS-1020 EFO:0000917 EMAPA:18797 EV:0100169 FMA:61825 GAID:635 MA:0000941 MAT:0000508 MESH:A08.186.211.730.885.213.863 NIF_GrossAnatomy:birnlex_1160 OpenCyc:Mx4rwQLi-ZwpEbGdrcN5Y29ycA SCTID:180921000 Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. UBERON:0001871 UMLS:C0039485 Wikipedia:Temporal_lobe http://upload.wikimedia.org/wikipedia/commons/9/91/Gray730.png http://upload.wikimedia.org/wikipedia/commons/thumb/9/91/Gray730.png/200px-Gray730.png lobus temporalis ncithesaurus:Temporal_Lobe temporal cortex temporal neocortex uberon Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. Wikipedia:Temporal_lobe Wikipedia:Temporal_lobe lobus temporalis DHB:TCx temporal neocortex parietal lobe BTO:0001001 CALOHA:TS-0747 EFO:0000914 EV:0100168 FMA:61826 GAID:680 MA:0000916 MAT:0000506 MESH:A08.186.211.730.885.213.670 NIF_GrossAnatomy:birnlex_1148 OpenCyc:Mx4rvg-typwpEbGdrcN5Y29ycA Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe. SCTID:180922007 This class was created automatically from a combination of ontologies UBERON:0001872 UMLS:C0030560 Wikipedia:Parietal_lobe http://upload.wikimedia.org/wikipedia/commons/b/b2/Gray726_parietal_lobe.png http://upload.wikimedia.org/wikipedia/commons/thumb/b/b2/Gray726_parietal_lobe.png/200px-Gray726_parietal_lobe.png lobus parietalis ncithesaurus:Parietal_Lobe_of_the_Brain parietal cortex parietal neocortex parietal region regio parietalis uberon DHB:PCx parietal neocortex Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe. Wikipedia:Parietal_lobe FMA:61826 FMA:TA regio parietalis Wikipedia:Parietal_lobe lobus parietalis caudate nucleus BM:Tel-CA BTO:0000211 CALOHA:TS-0121 CHECK - rodents. The caudate nucleus and putamen are separated by a clear white matter bundle in most species but not in rodents (MM) EFO:0000907 EMAPA:18207 EV:0100185 FMA:61833 GAID:670 MA:0000894 MAT:0000513 MESH:A08.186.211.730.885.105.487.550.184 NIF_GrossAnatomy:birnlex_1373 Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. OpenCyc:Mx4rvvyAjJwpEbGdrcN5Y29ycA SCTID:279297002 UBERON:0001873 UMLS:C0007461 Wikipedia:Caudate_nucleus caudatus http://upload.wikimedia.org/wikipedia/commons/9/91/Telencephalon-Horiconatal.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/9/91/Telencephalon-Horiconatal.jpg/200px-Telencephalon-Horiconatal.jpg ncithesaurus:Caudate_Nucleus nucleus caudatus uberon Wikipedia:Caudate_nucleus nucleus caudatus BTO:0000211 nucleus caudatus Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. Wikipedia:Caudate_nucleus globus pallidus BTO and MA are inconsistent w.r.t striatum and pallidum being non-overlapping as in ABA. Note that we have pallidum as part_of basal gangion, so we can make the direct link to basal ganglion. ISBN10:1588900649 says: ... a derivative of the diencephalon, seperates as a result of growing fibers of theinternal capsule and is finally displaced into telencephalon. only a small medial remnannt remains, the entopeduncular nucleus. The globus pallidus should be regarded as part of the subthalamus BTO:0002246 CALOHA:TS-2013 EFO:0000905 EV:0100188 FMA:61835 GAID:668 MA:0000890 MAT:0000510 MESH:A08.186.211.730.885.105.487.397 NIF_GrossAnatomy:birnlex_1234 SCTID:362361005 Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle[NIF]. Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA]. UBERON:0001875 UMLS:C0017651 Wikipedia:Globus_pallidus http://upload.wikimedia.org/wikipedia/commons/e/ee/Brain_structure.gif http://upload.wikimedia.org/wikipedia/commons/thumb/e/ee/Brain_structure.gif/200px-Brain_structure.gif ncithesaurus:Globus_Pallidus pale body paleostriatum pallidal pallidium pallidum uberon GO:0021759 NIF_GrossAnatomy:birnlex_1234 Wikipedia:Globus_pallidus pallidum Wikipedia:Globus_pallidus pallidium NIF_GrossAnatomy FMA:61835 NIF_GrossAnatomy:birnlex_1234 Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle[NIF]. Nucleus of brain which is located medially to the putamen and laterally to the internal capsule[FMA]. Wikipedia:Globus_pallidus Wikipedia:Globus_pallidus paleostriatum NIF_GrossAnatomy:birnlex_1234 pale body amygdala AO notes: MA and FMA differ on relationship to basal ganglion. The FMA text def suggests a subdivision, but it is classified as a subtype BM:Tel-Am BTO:0001042 CALOHA:TS-0037 EFO:0000252 EV:0100189 EV:0100190 FMA:61841 GAID:616 MA:0000887 MAT:0000289 MESH:A08.186.211.577.090 MIAA:0000289 NIF_GrossAnatomy:birnlex_1241 One part of the striatum is called the archistriatum. (...) The archistriatum of fishes consists of several indistinctly segregated nuclei called the amygdaloid (...) complex. Tetrapods retain the structure, and in mammals the corresponding amygdala is a globular mass that tends to be ventral to the other basal nuclei.[well established][VHOG] OpenCyc:Mx4rwJC_2ZwpEbGdrcN5Y29ycA SCTID:279404004 Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA] UBERON:0001876 UMLS:C0002708 VHOG:0001277 Wikipedia:Amygdala amygdalar amygdaloid area amygdaloid body amygdaloid complex amygdaloid nuclear complex amygdaloid nuclear group amygdaloid nuclear groups amygdaloid nucleus archistriatum corpus amygdaloideum http://upload.wikimedia.org/wikipedia/commons/8/8b/Amyg.png http://upload.wikimedia.org/wikipedia/commons/thumb/8/8b/Amyg.png/200px-Amyg.png ncithesaurus:Amygdala nucleus amygdalae uberon 2012-09-17 ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.342 One part of the striatum is called the archistriatum. (...) The archistriatum of fishes consists of several indistinctly segregated nuclei called the amygdaloid (...) complex. Tetrapods retain the structure, and in mammals the corresponding amygdala is a globular mass that tends to be ventral to the other basal nuclei.[well established][VHOG] VHOG VHOG:0001277 http://bgee.unil.ch/ VHOG:0001277 BTO:0001042 corpus amygdaloideum NIF_GrossAnatomy:birnlex_1241 amygdaloid complex Wikipedia:Amygdala corpus amygdaloideum BTO:0001042 nucleus amygdalae FMA:61841 amygdaloid nucleus FMA:61841 Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe[FMA] Wikipedia:Amygdala BTO BTO:0001042 amygdaloid nuclear group FMA bed nucleus of stria terminalis A brain structure in the forebrain wrapped around the stria terminalis. It's largest extent can be found around the crossing of the anterior commissure[INCF]. ABA:BST BM:BNST BST BTO:0002698 EFO:0001971 FMA:61884 MA:0000925 NIF_GrossAnatomy:birnlex_724 UBERON:0001880 Wikipedia:Stria_terminalis#Bed_nucleus_of_the_stria_terminalis bed nucleus of the stria terminalis bed nucleus stria terminalis (johnson) intercalate nucleus of stria terminalis interstitial nucleus of stria terminalis nuclei of stria terminalis nucleus of stria terminalis nucleus striae terminalis stria terminalis nucleus uberon BST INCF:Seattle_mtg_2010 FMA:61884 nucleus of stria terminalis NIF_GrossAnatomy:birnlex_724 bed nucleus stria terminalis (johnson) NIF_GrossAnatomy:birnlex_724 interstitial nucleus of stria terminalis FMA:61884 FMA:TA nucleus striae terminalis A brain structure in the forebrain wrapped around the stria terminalis. It's largest extent can be found around the crossing of the anterior commissure[INCF]. INCF:Seattle_mtg_2010 Wikipedia:Stria_terminalis#Bed_nucleus_of_the_stria_terminalis NIF_GrossAnatomy:birnlex_724 bed nucleus of the stria terminalis nucleus accumbens ABA:ACB BM:Ac BTO:0001862 EFO:0000906 EHDAA2:0004707 FMA:61889 GAID:672 MA:0000892 MAT:0000512 MESH:A08.186.211.730.885.105.683 NIF_GrossAnatomy:birnlex_727 SCTID:427667007 This class was created automatically from a combination of ontologies UBERON:0001882 UMLS:C0028633 Wikipedia:Nucleus_accumbens a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO]. accumbens nucleus colliculus of caudate nucleus http://upload.wikimedia.org/wikipedia/commons/9/93/Circuit_du_syst%C3%A8me_de_recompense.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/9/93/Circuit_du_syst%C3%A8me_de_recompense.jpg/200px-Circuit_du_syst%C3%A8me_de_recompense.jpg ncithesaurus:Accumbens_Nucleus nucleus accumbens septi uberon Wikipedia:Nucleus_accumbens nucleus accumbens septi MA ABA GO:0021768 Wikipedia:Nucleus_accumbens a collection of pleomorphic cells in the caudal part of the anterior horn of the lateral ventricle, in the region of the olfactory tubercle, lying between the head of the caudate nucleus and the anterior perforated substance. It is part of the ventral striatum, a composite structure considered part of the basal ganglia[GO]. choroid plexus A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces. A tuft of capillaries that project into the ventricles of the brain and secretes cerebral spinal fluid. The choroid plexus is covered by a cuboidal epithelium which maintains the integrity of the blood-brain barrier.[TAO] BTO:0000258 CALOHA:TS-0145 EFO:0001915 FMA:61934 Fringe of the tela choroidea of the brain ventricles[MP] GAID:607 MA:0000823 MESH:A08.186.211.276.298 SCTID:264450003 TAO:0001443 TODO - check relationship to ventricle. Check subclass - ZFA says vasculature. Note that FMA:61934 (choroid plexus of cerebral hemisphere) has exact synonym 'choroid plexus' but it is not clear that this belongs here, as the fourth ventricle is not in the cerebral hemisphere UBERON:0001886 UMLS:C0008524 VHOG:0001377 Wikipedia:Choroid_plexus ZFA:0001443 chorioid plexus choroid plexus of cerebral hemisphere choroidal http://upload.wikimedia.org/wikipedia/commons/b/b9/Gray708.svg http://upload.wikimedia.org/wikipedia/commons/thumb/b/b9/Gray708.svg/200px-Gray708.svg.png ncithesaurus:Choroid_Plexus plexus choroideus uberon ventricular choroid plexus VHOG:0001377 true FMA:61934 choroid plexus of cerebral hemisphere Wikipedia:Choroid_plexus plexus choroideus A network formed by blood vessels and the tela choroidea which secretes CSF into the ventricular spaces. ISBN10:0471888893 Wikipedia:Choroid_plexus FMA:61934 FMA:TA plexus choroideus Fringe of the tela choroidea of the brain ventricles[MP] MP:0000820 2012-08-14 A tuft of capillaries that project into the ventricles of the brain and secretes cerebral spinal fluid. The choroid plexus is covered by a cuboidal epithelium which maintains the integrity of the blood-brain barrier.[TAO] TAO TAO:0001443 ZFIN:curator FMA:61934 chorioid plexus forebrain AAO:0010147 BTO:0000478 CALOHA:TS-0380 EFO:0000909 EHDAA2:0000556 EHDAA:3470 EMAPA:16895 FMA:61992 In craniate embryos, neural expression of Distal-less-related genes is exclusively in the forebrain (...). Because the major neural expression domain of amphioxus AmphiDll is in the anterior three-fourths of the cerebral vesicle, we suggest that this region of the neural tube is homologous to parts of the craniate forebrain. This conclusion is strongly supported by three-dimensional, computer-assisted reconstruction of the neural tube of amphioxus based on serial transmission electron microscopy. At the neuroanatomical level, a number of detailed homologies are indicated between the anterior three-fourths of the amphioxus cerebral vesicle and the diencephalic region of the craniate forebrain. If one assumes that the amphioxus condition fairly represents the nervous system of the proximate ancestor of the craniates, one can suggest that they evolved from a creature that had the beginnings of a forebrain.[well established][VHOG] MA:0000170 MAT:0000105 MESH:A08.186.211.730 MIAA:0000105 Most anterior of the three regions of the brain consisting of the telencephalon and diencephalon.[AAO] NIF_GrossAnatomy:birnlex_1509 SCTID:362291003 TAO:0000109 The most anterior region the brain including both the telencephalon and diencephalon. The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[TAO] UBERON:0001890 UMLS:C0085140 VHOG:0000383 Wikipedia:Forebrain XAO:0000011 ZFA:0000109 http://upload.wikimedia.org/wikipedia/commons/thumb/5/54/EmbryonicBrain.svg/200px-EmbryonicBrain.svg.png ncithesaurus:Fore-Brain ncithesaurus:Prosencephalon prosencephalic prosencephalon relationship loss: develops_from forebrain neural tube (TAO:0007041)[TAO] uberon 2012-09-17 In craniate embryos, neural expression of Distal-less-related genes is exclusively in the forebrain (...). Because the major neural expression domain of amphioxus AmphiDll is in the anterior three-fourths of the cerebral vesicle, we suggest that this region of the neural tube is homologous to parts of the craniate forebrain. This conclusion is strongly supported by three-dimensional, computer-assisted reconstruction of the neural tube of amphioxus based on serial transmission electron microscopy. At the neuroanatomical level, a number of detailed homologies are indicated between the anterior three-fourths of the amphioxus cerebral vesicle and the diencephalic region of the craniate forebrain. If one assumes that the amphioxus condition fairly represents the nervous system of the proximate ancestor of the craniates, one can suggest that they evolved from a creature that had the beginnings of a forebrain.[well established][VHOG] PMID:8787764 Holland ND, Panganiban G, Henyey EL, Holland LZ, Sequence and developmental expression of AmphiDll, an amphioxus Distal-less gene transcribed in the ectoderm, epidermis and nervous system: insights into evolution of craniate forebrain and neural crest. Development (1996) VHOG VHOG:0000383 http://bgee.unil.ch/ 2012-08-14 TAO TAO:0000109 relationship loss: develops_from forebrain neural tube (TAO:0007041)[TAO] 2012-06-20 AAO AAO:0010147 AAO:BJB Most anterior of the three regions of the brain consisting of the telencephalon and diencephalon.[AAO] The most anterior region the brain including both the telencephalon and diencephalon. Wikipedia:Forebrain ZFIN:ZDB-PUB-961014-576 2012-08-14 TAO TAO:0000109 The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[TAO] ZFIN:curator VHOG:0000383 midbrain AAO:0010149 ABA:MB BM:MB BTO:0000138 CALOHA:TS-0630 EFO:0000919 EHDAA2:0001162 EHDAA:3694 EMAPA:16974 EV:0100242 Editors note: developmental relationships need revised. AO notes: part of brainstem in ABA - we reject this in favor of ISBN10:0471888893 which has an implicit overlaps relationships FMA:61993 Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] MA:0000207 MAT:0000106 MESH:A08.186.211.132.659 MIAA:0000106 Middle part of the brain composed of the optic tectum and penducular region.[AAO] NIF_GrossAnatomy:birnlex_1667 OpenCyc:Mx4rvsBUqpwpEbGdrcN5Y29ycA Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct[FMA]. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally[ZFA]. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. RETIRED_EHDAA2:0001104 SCTID:279099009 TAO:0000128 The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[TAO] UBERON:0001891 UMLS:C0025462 VHOG:0000069 Wikipedia:Midbrain XAO:0000014 ZFA:0000128 http://upload.wikimedia.org/wikipedia/commons/f/f9/Human_brain_inferior_view_description.JPG http://upload.wikimedia.org/wikipedia/commons/thumb/f/f9/Human_brain_inferior_view_description.JPG/200px-Human_brain_inferior_view_description.JPG mesencephalic mesencephalon ncithesaurus:Mesencephalon uberon ABA definitional Wikipedia:Midbrain mesencephalon FMA:61993 GO:0030901 Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct[FMA]. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally[ZFA]. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles)[GO]. Wikipedia:Midbrain ZFIN:curator VHOG:0000069 2012-09-17 DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999) Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] VHOG VHOG:0000069 http://bgee.unil.ch/ ABA 2012-06-20 AAO AAO:0010149 AAO:BJB Middle part of the brain composed of the optic tectum and penducular region.[AAO] 2012-08-14 TAO TAO:0000128 The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[TAO] ZFIN:curator rhombomere A segment of the developing hindbrain. Kimmel et al, 1995.[TAO] A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]. EFO:0003617 EMAPA:16148 EMAPA:16478 MAT:0000272 MIAA:0000272 RETIRED_EHDAA2:0000669 Rhombomeric segmentation is found in all living vertebrates and is of fundamental importance to the development of the vertebrate head.[well established][VHOG] TAO:0001064 UBERON:0001892 VHOG:0000672 Wikipedia:Rhombomere XAO:0004079 ZFA:0001064 future rhombencephalon hindbrain segment rhombomere rhombomeres segment of hindbrain uberon MIAA:0000272 future rhombencephalon 2012-09-17 DOI:10.1006/dbio.2002.0831 Mazet F, Shimeld SM, The Evolution of Chordate Neural Segmentation. Developmental Biology (2002) Rhombomeric segmentation is found in all living vertebrates and is of fundamental importance to the development of the vertebrate head.[well established][VHOG] VHOG VHOG:0000672 http://bgee.unil.ch/ 2012-08-14 A segment of the developing hindbrain. Kimmel et al, 1995.[TAO] TAO TAO:0001064 ZFIN:curator VHOG:0000672 VHOG:0000672 rhombomeres ZFA:0001064 hindbrain segment ZFA:0001064 segment of hindbrain A segment of the developing hindbrain[ZFA]. In the vertebrate embryo, a rhombomere is a transiently divided segment of the developing neural tube, within the hindbrain region (a neuromere) in the area that will eventually become the rhombencephalon. The rhombomeres appear as a series of slightly constricted swellings in the neural tube, caudal to the cephalic flexure. In human embryonic development, the rhombomeres are present by day 29[WP]. Wikipedia:Rhombomere ZFIN:curator telencephalon AAO:0010479 ABA:CH BM:Tel BTO:0000239 CALOHA:TS-1018 EFO:0000912 EHDAA2:0001982 EMAPA:16652 EMAPA:16910 EV:0100165 FMA:62000 From an evolutionary standpoint, the telencephalon is the most recent brain structure: the amphioxus does not have this structure as a morphological entity. Overt telencephalon is present in the hagfish and lamprey to receive numerous input fibers from various parts of the CNS, similar to gnathostomes.[well established][VHOG] GAID:621 In mammals the cortex covers almost the whole of the cerebral hemispheres. In ray-finned fishes the inner surfaces of the lateral and ventral regions of the cerebrum bulge up into the ventricles. In the amniotes, the cerebrum becomes increasingly large and complex. In reptiles, the paleopallium is much larger than in amphibians, and its growth has pushed the basal nuclei into the central regions of the cerebrum. In the most primitive living vertebrates, the hagfishes and lampreys, the cerebrum is a relatively simple structure receiving nerve impulses from the olfactory bulb. MA:0000183 MAT:0000421 MESH:A08.186.211.730.885 MIAA:0000421 NIF_GrossAnatomy:birnlex_1115 Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA]. Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.[AAO] SCTID:263353005 TAO:0000079 The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[TAO] The cerebrum of birds has evolved along different lines to that of mammals, although they are similarly enlarged, by comparison with reptiles. However, this enlargement is largely due to the basal ganglia, with the other areas remaining relatively primitive in structure. The telencephalon is the name for a large region within the brain that is attributed many functions. Many people refer to it as the cerebrum; however, it is technically referred to as the telencephalon. As a more technical definition, the telencephalon refers to the cerebral hemispheres and other, smaller structures within the brain, although the telencephalon is one of the larger divisions (in terms of number). It is the anterior-most embryological division of the brain that develops from the prosencephalon. The telencephalon is composed of the following sub-regions; Limbic system; Cerebral cortex or cortices of the cerebral hemispheres, Basal ganglia, Olfactory bulb. The telencephalon comprises what most people think of as the 'brain' It lies on top of the brainstem and is the largest and most well-developed of the five major divisions of the brain. The telencephalon is the newest structure in the phylogenetic sense, with mammals having the largest and most well-developed among all species. It emerges from the prosencephalon, the first of three vesicles that form from the embryonic neural tube (Christine Fennema-Notestine, NIF_GrossAnatomy:birnlex_1115). UBERON:0001893 VHOG:0000283 Wikipedia:Telencephalon XAO:0000012 ZFA:0000079 cerebral cerebrum dolphins are the only species (other than humans) to have cerebra accounting for as much as 2 percent of their body weight. endbrain relationship loss: develops_from presumptive telencephalon (TAO:0000571)[TAO] telenencephalic uberon In ray-finned fishes the inner surfaces of the lateral and ventral regions of the cerebrum bulge up into the ventricles. http://en.wikipedia.org/wiki/Telencephalon#Variation_among_species 2012-09-17 DOI:10.1016/j.ydbio.2005.02.008 Murakami Y, Uchida K, Rijli FM and Kuratani S, Evolution of the brain developmental plan: Insights from agnathans. Developmental Biology (2005) From an evolutionary standpoint, the telencephalon is the most recent brain structure: the amphioxus does not have this structure as a morphological entity. Overt telencephalon is present in the hagfish and lamprey to receive numerous input fibers from various parts of the CNS, similar to gnathostomes.[well established][VHOG] VHOG VHOG:0000283 http://bgee.unil.ch/ The cerebrum of birds has evolved along different lines to that of mammals, although they are similarly enlarged, by comparison with reptiles. However, this enlargement is largely due to the basal ganglia, with the other areas remaining relatively primitive in structure. http://en.wikipedia.org/wiki/Telencephalon#Variation_among_species FMA:62000 Organ component of neuraxis that has as its parts the cerebral cortex, cerebral white matter, basal ganglia, septum and fornix, as well as subcortical gray and white matter structures[FMA]. Wikipedia:Telencephalon In mammals the cortex covers almost the whole of the cerebral hemispheres. http://en.wikipedia.org/wiki/Telencephalon#Variation_among_species VHOG:0000283 dolphins are the only species (other than humans) to have cerebra accounting for as much as 2 percent of their body weight. http://en.wikipedia.org/wiki/Telencephalon#Variation_among_species ABA In the amniotes, the cerebrum becomes increasingly large and complex. In reptiles, the paleopallium is much larger than in amphibians, and its growth has pushed the basal nuclei into the central regions of the cerebrum. http://en.wikipedia.org/wiki/Telencephalon#Variation_among_species 2012-08-14 TAO TAO:0000079 The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[TAO] ZFIN:curator Swanson:2004 endbrain 2012-08-14 TAO TAO:0000079 relationship loss: develops_from presumptive telencephalon (TAO:0000571)[TAO] cerebrum http://en.wikipedia.org/wiki/Talk:Cerebrum 2012-06-20 AAO AAO:0010479 AAO:BJB Part of the forebrain consisting of paired olfactory bulbs and cerebral hemispheres.[AAO] In the most primitive living vertebrates, the hagfishes and lampreys, the cerebrum is a relatively simple structure receiving nerve impulses from the olfactory bulb. http://en.wikipedia.org/wiki/Telencephalon#Variation_among_species diencephalon AAO:0010481 ABA:IB BM:Die BTO:0000342 CALOHA:TS-0199 EFO:0000911 EHDAA2:0000385 EHDAA:1969 EHDAA:2645 EHDAA:3472 EMAPA:16641 EMAPA:16896 EV:0100194 FMA:62001 Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] GAID:618 MA:0000171 MAT:0000420 MESH:A08.186.211.730.385 MIAA:0000420 NIF_GrossAnatomy:birnlex_1503 Note that in ABA, this is part of the brain stem OpenCyc:Mx4rwC-V0JwpEbGdrcN5Y29ycA Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus[FMA]. The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> SCTID:279328001 TAO:0000101 The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[TAO] UBERON:0001894 UMLS:C0012144 Unpaired part of the forebrain comprised of three major parts; the epithalamus, thalamus, and hypothalamus.[AAO] VHOG:0000318 Wikipedia:Diencephalon XAO:0000013 ZFA:0000101 between brain betweenbrain diencephalic diencephalon http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg http://upload.wikimedia.org/wikipedia/commons/thumb/5/54/EmbryonicBrain.svg/200px-EmbryonicBrain.svg.png interbrain mature diencephalon ncithesaurus:Diencephalon uberon Swanson:2004 interbrain BTO:0000342 betweenbrain FMA:62001 Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus[FMA]. The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> Wikipedia:Diencephalon ZFIN:curator 2012-09-17 DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999) Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] VHOG VHOG:0000318 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010481 AAO:BJB Unpaired part of the forebrain comprised of three major parts; the epithalamus, thalamus, and hypothalamus.[AAO] 2012-08-14 TAO TAO:0000101 The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[TAO] ZFIN:curator ABA ABA FMA:62001 mature diencephalon Wikipedia:Diencephalon diencephalon VHOG:0000318 medulla oblongata AAO:0010486 ABA:MY BTO:0000041 CALOHA:TS-0607 Classical anatomical studies subdivided the vertebrate rhombencephalon into pons and medulla oblongata. (...) The medulla oblongata appears therefore as a tagma, that is, a group of segmental units (pseudorhombomeres, in this case) sharing some morphological and molecular characteristics, and in some aspects different from the segmental units present in adjoining brain regions, pons and spinal cord.[well established][VHOG] EFO:0000924 EHDAA2:0001088 EHDAA:7588 EMAPA:17550 EV:0100275 FMA:62004 GAID:590 MA:0000206 MAT:0000111 MAT:0000367 MESH:A08.186.211.132.810.406 MIAA:0000111 NIF_GrossAnatomy:birnlex_957 OpenCyc:Mx4rvVjxSJwpEbGdrcN5Y29ycA OpenCyc:Mx4rwCqnXJwpEbGdrcN5Y29ycA Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. Posterior portion of the hindbrain which controls respiration, heartbeat, digestion, and swallowing as well as some locomotor responses.[AAO] SCTID:279104005 TAO:0000545 The posterior region of the brain that is continuous with the spinal cord. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-17, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] UBERON:0001896 UMLS:C0025148 VHOG:0000181 Wikipedia:Bone_marrow_of_ovary_oblongata XAO:0003100 ZFA:0000545 bulb bulbus http://upload.wikimedia.org/wikipedia/commons/thumb/6/6b/Illu_pituitary_pineal_glands.jpg/200px-Illu_pituitary_pineal_glands.jpg medulla medulla oblonzata metepencephalon ncithesaurus:Medulla_Oblongata uberon VHOG:0000181 Wikipedia:Medulla_oblongata medulla oblonzata FMA:62004 metepencephalon FMA:62004 FMA:TA bulbus 2012-09-17 Classical anatomical studies subdivided the vertebrate rhombencephalon into pons and medulla oblongata. (...) The medulla oblongata appears therefore as a tagma, that is, a group of segmental units (pseudorhombomeres, in this case) sharing some morphological and molecular characteristics, and in some aspects different from the segmental units present in adjoining brain regions, pons and spinal cord.[well established][VHOG] DOI:10.1016/j.ydbio.2008.08.017 Marin F, Aroca P, Puelles L, Hox gene colinear expression in the avian medulla oblongata is correlated with pseudorhombomeric domains. Developmental Biology (2008) VHOG VHOG:0000181 http://bgee.unil.ch/ ABA 2012-09-17 The posterior region of the brain that is continuous with the spinal cord. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-17, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] VHOG VHOG:0000181 http://bgee.unil.ch/ FMA:62004 GO:0021550 Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures[FMA]. The medulla oblongata lies directly above the spinal cord and controls vital autonomic functions such as digestion, breathing and the control of heart rate[GO]. Wikipedia:Bone_marrow_of_ovary_oblongata 2012-06-20 AAO AAO:0010486 AAO:BJB Posterior portion of the hindbrain which controls respiration, heartbeat, digestion, and swallowing as well as some locomotor responses.[AAO] ABA:MY medulla thalamus (...) the brain regions of tetrapods, the structures they contain, and their basic organizational features are the same as in fishes.[well established][VHOG] A midline paired symmetrical structure within the brains of vertebrates, including humans. It is situated between the cerebral cortex and midbrain, both in terms of location and neurological connections. Its function includes relaying sensation, special sense and motor signals to the cerebral cortex, along with the regulation of consciousness, sleep and alertness. The thalamus surrounds the third ventricle. It is the main product of the embryonic diencephalon. AAO:0010483 ABA:TH AO notes: MA and ZFA think there is a distinct dorsal thalamus, but FMA says its an exact synonym. FMA has a distinct class for thalamic complex. BTO:0001365 CALOHA:TS-1031 EFO:0000910 EMAPA:17540 EV:0100195 FMA:62007 GAID:656 MA:0000179 MAT:0000109 MESH:A08.186.211.730.385.826 MIAA:0000109 NIF_GrossAnatomy:birnlex_954 One of a pair of large oval nervous structures made of gray matter and forming most of the lateral walls of the third ventricle of the brain and part of the diencephalon. [TFD][VHOG] OpenCyc:Mx4rwMPQ65wpEbGdrcN5Y29ycA Part of the diencephalon consisting of a mass of connecting fibers which relay sensory information to the cerebral cortex.[AAO] SCTID:244433007 TAO:0001215 UBERON:0001897 UMLS:C0039729 VHOG:0000657 Wikipedia:Thalamus ZFA:0001215 dorsal thalamus dorsal thalamus (anthoney) galen:Thalamus http://upload.wikimedia.org/wikipedia/commons/c/ce/Brain_chrischan_thalamus.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/c/ce/Brain_chrischan_thalamus.jpg/200px-Brain_chrischan_thalamus.jpg ncithesaurus:Thalamus thalami thalamic thalamus dorsalis uberon Wikipedia:Thalamus thalamus dorsalis (...) the brain regions of tetrapods, the structures they contain, and their basic organizational features are the same as in fishes.[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.484 VHOG VHOG:0000657 http://bgee.unil.ch/ FMA:62007 dorsal thalamus 2012-09-17 One of a pair of large oval nervous structures made of gray matter and forming most of the lateral walls of the third ventricle of the brain and part of the diencephalon. [TFD][VHOG] VHOG VHOG:0000657 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/thalamus VHOG:0000657 thalami BTO:0001365 thalamus dorsalis FMA:62007 dorsal thalamus (anthoney) 2012-06-20 AAO AAO:0010483 AAO:BJB Part of the diencephalon consisting of a mass of connecting fibers which relay sensory information to the cerebral cortex.[AAO] VHOG:0000657 A midline paired symmetrical structure within the brains of vertebrates, including humans. It is situated between the cerebral cortex and midbrain, both in terms of location and neurological connections. Its function includes relaying sensation, special sense and motor signals to the cerebral cortex, along with the regulation of consciousness, sleep and alertness. The thalamus surrounds the third ventricle. It is the main product of the embryonic diencephalon. Wikipedia:Thalamus ABA hypothalamus A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[TAO] A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]. AAO:0010484 ABA:HY BM:Die-Hy BTO:0000614 CALOHA:TS-0469 EFO:0000107 EHDAA2:0000802 EHDAA:5446 EMAPA:17536 EV:0100225 FMA:62008 For instance, the vertebrate ventral diencephalon generates the hypothalamus which functions as a major endocrine center in cooperation with the hypophysis, the anterior part of the pituitary gland, located just ventral to the hypothalamus. In the amphioxus brain, the presence of a hypothalamus-like structure has been reported associated with the ventrally located Hatschek's pit, the hypothetical hypophysial homologue. It is thus conceivable that a hypothalamus-like structure originally involved in endocrine functions may have already been present before the establishment of vertebrates.[well established][VHOG] GAID:460 MA:0000173 MAT:0000112 MESH:A08.186.211.577.482 MIAA:0000112 NIF_GrossAnatomy:birnlex_734 OpenCyc:Mx4rwEgr9JwpEbGdrcN5Y29ycA Part of the diencephalon ventral to the thalamus consisting of connecting fibers and is a center for control of the autonomous nervous system.[AAO] SCTID:264483005 TAO:0000032 Taxon notes: all vertebrates contain a hypothalamus[WP]. UBERON:0001898 UMLS:C0020663 VHOG:0000179 Wikipedia:Hypothalamus XAO:0004070 ZFA:0000032 galen:Hypothalamus http://upload.wikimedia.org/wikipedia/commons/9/9f/LocationOfHypothalamus.jpg hypothalamic hypothalamus ncithesaurus:Hypothalamus preoptico-hypothalamic area preoptico-hypothalamic region uberon A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. [ZFA]. One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland (hypophysis).[Wikipedia]. Wikipedia:Hypothalamus ZFIN:curator 2012-09-17 DOI:10.1016/j.ydbio.2005.02.008 Murakami Y, Uchida K, Rijli FM and Kuratani S, Evolution of the brain developmental plan: Insights from agnathans. Developmental Biology (2005) For instance, the vertebrate ventral diencephalon generates the hypothalamus which functions as a major endocrine center in cooperation with the hypophysis, the anterior part of the pituitary gland, located just ventral to the hypothalamus. In the amphioxus brain, the presence of a hypothalamus-like structure has been reported associated with the ventrally located Hatschek's pit, the hypothetical hypophysial homologue. It is thus conceivable that a hypothalamus-like structure originally involved in endocrine functions may have already been present before the establishment of vertebrates.[well established][VHOG] VHOG VHOG:0000179 http://bgee.unil.ch/ VHOG:0000179 2012-08-14 A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[TAO] TAO TAO:0000032 ZFIN:curator ABA Wikipedia:Hypothalamus hypothalamus 2012-06-20 AAO AAO:0010484 AAO:BJB Part of the diencephalon ventral to the thalamus consisting of connecting fibers and is a center for control of the autonomous nervous system.[AAO] epithalamus AAO:0010482 ABA:EPI BM:Die-Epi BTO:0000175 CALOHA:TS-2060 Dorsal segment of the diencephalon containing the habenular ganglia, a choroid plexus, and the pineal organ.[AAO] EFO:0000918 EHDAA2:0000448 EHDAA:5433 EMAPA:17532 EV:0100220 FMA:62009 GAID:455 MA:0000172 MAT:0000422 MESH:A08.186.211.577.200 MIAA:0000422 NIF_GrossAnatomy:birnlex_1710 OpenCyc:Mx4rvneLQpwpEbGdrcN5Y29ycA SCTID:281487003 TAO:0000509 The epithalamus has been historically conceived as a distinct neuroanatomical moiety within the diencephalon of all vertebrates. (...) The evolutionary origins of epithalamic structures are uncertain but asymmetry in this region is likely to have existed at the origin of the vertebrate, perhaps even the chordate, lineage.[well established][VHOG] The epithalamus is the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle[GO]. a dorsal posterior segment of the diencephalon (a segment in the middle of the brain also containing the hypothalamus and the thalamus) which includes the habenula, the stria medullaris and the pineal body. Its function is the connection between the limbic system to other parts of the brain[WP] Some functions of its components include the secretion of melatonin by the pineal gland. The roof of the diencephalon lying above the thalamus. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-11, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] UBERON:0001899 UMLS:C0152361 VHOG:0000178 Wikipedia:Epithalamus ZFA:0000509 epithalamic epithalamus http://upload.wikimedia.org/wikipedia/commons/c/cb/Epithalamus.png http://upload.wikimedia.org/wikipedia/commons/thumb/c/cb/Epithalamus.png/200px-Epithalamus.png ncithesaurus:Epithalamus uberon 2012-09-17 DOI:10.1046/j.1469-7580.2001.19910063.x Concha ML and Wilson SW, Asymmetry in the epithalamus of vertebrates. J Anat (2001) The epithalamus has been historically conceived as a distinct neuroanatomical moiety within the diencephalon of all vertebrates. (...) The evolutionary origins of epithalamic structures are uncertain but asymmetry in this region is likely to have existed at the origin of the vertebrate, perhaps even the chordate, lineage.[well established][VHOG] VHOG VHOG:0000178 http://bgee.unil.ch/ VHOG:0000178 The epithalamus is the small dorsomedial area of the thalamus including the habenular nuclei and associated fiber bundles, the pineal body, and the epithelial roof of the third ventricle[GO]. a dorsal posterior segment of the diencephalon (a segment in the middle of the brain also containing the hypothalamus and the thalamus) which includes the habenula, the stria medullaris and the pineal body. Its function is the connection between the limbic system to other parts of the brain[WP] Some functions of its components include the secretion of melatonin by the pineal gland. Wikipedia:Epithalamus ABA 2012-06-20 AAO AAO:0010482 AAO:BJB Dorsal segment of the diencephalon containing the habenular ganglia, a choroid plexus, and the pineal organ.[AAO] ABA Wikipedia:Epithalamus epithalamus ABA 2012-09-17 The roof of the diencephalon lying above the thalamus. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-11, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] VHOG VHOG:0000178 http://bgee.unil.ch/ epithelium of small intestine An epithelium that is part of a small intestine [Automatically generated definition]. Intestinal epithelium which lines the lumen of the mid intestine.[TAO] This class was created automatically from a combination of ontologies BTO:0001258 CALOHA:TS-2104 FMA:62017 MA:0001553 SCTID:45480009 TAO:0005127 UBERON:0001902 ZFA:0005127 epithelial tissue of small bowel epithelial tissue of small intestine epithelium of small bowel mid intestine epithelium small bowel epithelial tissue small bowel epithelium small intestinal epithelium small intestine epithelial tissue small intestine epithelium uberon pineal body A circumscribed swelling, includes the pineal primordium that appears late in the segmentation period in the dorsal midline of the diencephalon. Kimmel et al, 1995.[TAO] AAO:0010549 ABA:PIN Anatomical structure which is a medial outgrowth of the thalamus on the dorsal surface of the brain. This structure is light sensitive and secretes melatonin when exposed to prolonged darkness.[AAO] BM:P BTO:0001067 CALOHA:TS-0789 EFO:0000865 EHDAA2:0001466 EHDAA:7523 EMAPA:18778 EV:0100131 EV:0100221 FMA:62033 GAID:453 MA:0000175 MAT:0000448 MESH:A06.407.635 NIF_GrossAnatomy:birnlex_1184 NIF_GrossAnatomy:nlx_anat_1010009 OpenCyc:Mx4rv2FMGpwpEbGdrcN5Y29ycA SCTID:181126002 TAO:0000019 The pineal body is an unpaired glandular organ subdivision shaped somewhat like a pine cone. It is attached on the midline near the posterior and habenular commissures of the epithalamus. The pineal gland has evolved from a part of the epiphyseal complex of anamniotes, which includes a median light-receptive pineal eye, parietal eye, or both.[well established][VHOG] UBERON:0001905 UMLS:C0031939 VHOG:0000051 Wikipedia:Pineal_gland XAO:0000160 ZFA:0000019 corpus pineale epiphyseal epiphysial epiphysis epiphysis cerebri frontal organ galen:PinealGland glandula pinealis http://upload.wikimedia.org/wikipedia/commons/6/6b/Illu_pituitary_pineal_glands.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/6/6b/Illu_pituitary_pineal_glands.jpg/200px-Illu_pituitary_pineal_glands.jpg ncithesaurus:Pineal_Gland pineal pineal gland pineal organ relationship loss: part_of pineal complex (TAO:0001359)[TAO] stirnorgan uberon multiple 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.516 The pineal gland has evolved from a part of the epiphyseal complex of anamniotes, which includes a median light-receptive pineal eye, parietal eye, or both.[well established][VHOG] VHOG VHOG:0000051 http://bgee.unil.ch/ FMA:62033 pineal gland VHOG:0000051 pineal VHOG:0000051 stirnorgan ZFA:0000019 pineal organ VHOG:0000051 FMA:TA glandula pinealis 2012-08-14 A circumscribed swelling, includes the pineal primordium that appears late in the segmentation period in the dorsal midline of the diencephalon. Kimmel et al, 1995.[TAO] TAO TAO:0000019 ZFIN:curator The pineal body is an unpaired glandular organ subdivision shaped somewhat like a pine cone. It is attached on the midline near the posterior and habenular commissures of the epithalamus. Wikipedia:Pineal_gland FMA:62033 FMA:TA glandula pinealis 2012-08-14 TAO TAO:0000019 relationship loss: part_of pineal complex (TAO:0001359)[TAO] VHOG:0000051 frontal organ Wikipedia:Epiphysis_cerebri epiphysis cerebri ABA 2012-06-20 AAO AAO:0010549 AAO:BJB Anatomical structure which is a medial outgrowth of the thalamus on the dorsal surface of the brain. This structure is light sensitive and secretes melatonin when exposed to prolonged darkness.[AAO] ABA ZFA:0000019 epiphysis subthalamic nucleus ABA:STN BM:Die-Sb BTO:0002252 CALOHA:TS-1154 EFO:0001392 EV:0100224 FMA:62035 GAID:655 Luy's body Luys' body MA:0000877 MESH:A08.186.211.730.385.800.800 NIF_GrossAnatomy:nlx_anat_1010002 The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]. This class was created automatically from a combination of ontologies UBERON:0001906 UMLS:C0152355 Wikipedia:Subthalamic_nucleus body of Forel body of Luys corpus Luysi corpus subthalamicum http://upload.wikimedia.org/wikipedia/commons/3/33/Basal-ganglia-coronal-sections-large.png http://upload.wikimedia.org/wikipedia/commons/thumb/3/33/Basal-ganglia-coronal-sections-large.png/200px-Basal-ganglia-coronal-sections-large.png ncithesaurus:Subthalamic_Nucleus nucleus of Luys nucleus of corpus luysii nucleus subthalamicus subthalamic nucleus (of Luys) subthalamic nucleus of Luys uberon ABA Wikipedia:Subthalamic_nucleus corpus Luysi ABA BTO:0002252 Wikipedia:Subthalamic_nucleus nucleus subthalamicus Luy's body Wikipedia:Subthalamic_nucleus ABA Wikipedia:Subthalamic_nucleus nucleus of Luys Wikipedia:Subthalamic_nucleus corpus subthalamicum The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]. Wikipedia:Subthalamic_nucleus ABA BTO:0002252 Luys' body Wikipedia:Subthalamic_nucleus subthalamic nucleus of Luys mammary gland Any of the milk-producing apocrine glands typically occurring in pairs in female mammals and consisting of lobes containing clusters of alveoli with a system of ducts to convey the milk to an external nipple or teat. [TFD][VHOG] BTO:0000817 Brustdruese CALOHA:TS-0595 EFO:0000854 EMAPA:17759 EV:0100125 MA:0000145 MAT:0000073 MESH:A10.336.482 MIAA:0000073 Note that this class corresponds to the generic mammary gland. The human mammary gland is in the thoracic/breast region and is therefore covered by the subclass "thoracic mammary gland" // Males typically only have rudimentary mammary glands, The male Dayak fruit bat has lactating mammary glands. Male lactation occurs infrequently in some species. We make a part_of association to female organism for now as this is the canonical case // AO notes: in MP, this is implicitly part of female reproductive system, but not female genitalia // A mouse mammary gland contains a single duct or sinus, forming 5-10 secondary ducts OpenCyc:Mx4rvVjVq5wpEbGdrcN5Y29ycA SCTID:361720005 The detailed similarities of mammary glands in living monotremes, marsupials, and eutherians argue for a monophyletic origin of these glands, perhaps by the combination of parts of preexisting sebaceous and sweat glands.[well established][VHOG] The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland[BTO]. The mouse forms five to six pairs of mammary glands that extend from the neck to the groin. UBERON:0001911 UMLS:C0929301 VHOG:0000398 Wikipedia:Mammary_gland dug glandula mammaria http://upload.wikimedia.org/wikipedia/commons/6/64/Illu_breast_anatomy.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/6/64/Illu_breast_anatomy.jpg/200px-Illu_breast_anatomy.jpg lactiferous gland lobe of breast lobe of mammary gland mamma mammae mammary ncithesaurus:Mammary_Gland uberon 2012-09-17 Any of the milk-producing apocrine glands typically occurring in pairs in female mammals and consisting of lobes containing clusters of alveoli with a system of ducts to convey the milk to an external nipple or teat. [TFD][VHOG] VHOG VHOG:0000398 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/mammary+gland Wikipedia:Mammary_gland glandula mammaria mammae VHOG:0000398 FMA:57983 FMA:TA glandula mammaria 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.224 The detailed similarities of mammary glands in living monotremes, marsupials, and eutherians argue for a monophyletic origin of these glands, perhaps by the combination of parts of preexisting sebaceous and sweat glands.[well established][VHOG] VHOG VHOG:0000398 http://bgee.unil.ch/ BTO:0000817 The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland[BTO]. The mouse forms five to six pairs of mammary glands that extend from the neck to the groin. Wikipedia:Mammary_gland Wikipedia:Mammary_gland dug BTO:0000817 Brustdruese FMA:62088 lactiferous gland BTO:0000817 mamma lateral geniculate body BTO:0004366 BTO:0004367 EFO:0001988 EV:0100219 FMA:62209 MA:0000869 NIF_GrossAnatomy:birnlex_1662 Note that BTO has distinct classes for body and nucleus, but other sources treat as identical SCTID:362377006 The lateral geniculate nucleus is the primary processor of visual information received from the retina[GO]. UBERON:0001926 UMLS:C0086526 Wikipedia:Lateral_geniculate_body corpus geniculatum externum corpus geniculatum laterales external geniculate body http://upload.wikimedia.org/wikipedia/commons/thumb/b/b7/Gray719.png/200px-Gray719.png lateral geniculate complex lateral geniculate nucleus ncithesaurus:External_Geniculate_Body nucleus geniculatus lateralis uberon The lateral geniculate nucleus is the primary processor of visual information received from the retina[GO]. Wikipedia:Lateral_geniculate_body NIF_GrossAnatomy:birnlex_1662 nucleus geniculatus lateralis NIF_GrossAnatomy:birnlex_1662 corpus geniculatum laterales BTO:0004367 corpus geniculatum externum Wikipedia:Lateral_geniculate_nucleus external geniculate body medial geniculate body ABA:MG BM:Die-Th-MG BTO:0002674 EFO:0001968 EV:0100218 FMA:62211 MA:0000870 MGB NIF_GrossAnatomy:birnlex_1670 SCTID:362378001 The Medial Geniculate Nucleus (MGN) or Medial Geniculate Body (MGB) is part of the auditory thalamus and represents the thalamic relay between the inferior colliculus (IC) and the auditory cortex (AC). It is made up of a number of sub-nuclei that are distinguished by their neuronal morphology and density, by their afferent and efferent connections, and by the coding properties of their neurons. It is thought that the MGB influences the direction and maintenance of attention. [WP,unvetted]. UBERON:0001927 UMLS:C0086596 Wikipedia:Medial_geniculate_body corpus geniculatum mediale http://upload.wikimedia.org/wikipedia/commons/thumb/1/1b/ThalamicNuclei.png/200px-ThalamicNuclei.png internal geniculate body medial geniculate complex medial geniculate nuclei medial geniculate nucleus ncithesaurus:Internal_Geniculate_Body nuclei corporis geniculati medialis uberon ABA FMA:62211 FMA:TA nuclei corporis geniculati medialis The Medial Geniculate Nucleus (MGN) or Medial Geniculate Body (MGB) is part of the auditory thalamus and represents the thalamic relay between the inferior colliculus (IC) and the auditory cortex (AC). It is made up of a number of sub-nuclei that are distinguished by their neuronal morphology and density, by their afferent and efferent connections, and by the coding properties of their neurons. It is thought that the MGB influences the direction and maintenance of attention. [WP,unvetted]. Wikipedia:Medial_geniculate_body internal geniculate body ncithesaurus:Internal_Geniculate_Body BTO:0002674 MGB NIF_GrossAnatomy:birnlex_1670 corpus geniculatum mediale preoptic area Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus. See Figure 7, Atlas of Early Zebrafish Brain Development.[TAO] Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus[ZFA]. BM:Die-Hy-POA BTO:0001796 CALOHA:TS-0822 EFO:0002523 FMA:62313 GAID:644 MESH:A08.186.211.730.385.357.342.450 NIF_GrossAnatomy:birnlex_1706 SCTID:362382004 TAO:0000470 This class was created automatically from a combination of ontologies UBERON:0001928 Wikipedia:Preoptic_area ZFA:0000470 area hypothalamica rostralis area praeoptica area preoptica http://upload.wikimedia.org/wikipedia/commons/8/8c/HypothalamicNuclei.PNG http://upload.wikimedia.org/wikipedia/commons/thumb/8/8c/HypothalamicNuclei.PNG/200px-HypothalamicNuclei.PNG preoptic hypothalamic area preoptic hypothalamic region preoptic nuclei preoptic region preoptic region of hypothalamus regio hypothalamica anterior uberon 2012-08-14 Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus. See Figure 7, Atlas of Early Zebrafish Brain Development.[TAO] TAO TAO:0000470 ZFIN:curator BTO:0001796 area hypothalamica rostralis BTO:0001796 preoptic hypothalamic area Area of the forebrain anterior to the posterior tuberculum and the hypothalamus and ventral to the ventral thalamus[ZFA]. Wikipedia:Preoptic_area ZFIN:curator Wikipedia:Preoptic_area area preoptica BTO:0001796 regio hypothalamica anterior BTO:0001796 preoptic hypothalamic region supraoptic nucleus ABA:SO BM:Die-Hy-SON BTO:0002697 EFO:0002476 EV:0100227 FMA:62317 GAID:646 MA:0000849 MESH:A08.186.211.730.385.357.342.650 NIF_GrossAnatomy:birnlex_1411 SCTID:369130007 The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. In humans, it contains about 3,000 neurons. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001929 Wikipedia:Supraoptic_nucleus http://upload.wikimedia.org/wikipedia/commons/d/d7/SONss.jpg http://upload.wikimedia.org/wikipedia/en/thumb/d/d7/SONss.jpg/200px-SONss.jpg nucleus supraopticus supra-optic nucleus supraoptic nucleus of hypothalamus uberon ABA Wikipedia:Supraoptic_nucleus nucleus supraopticus ABA The supraoptic nucleus (SON) is a nucleus of magnocellular neurosecretory cells in the hypothalamus of the mammalian brain. The nucleus is situated at the base of the brain, adjacent to the optic chiasm. In humans, it contains about 3,000 neurons. [WP,unvetted]. Wikipedia:Supraoptic_nucleus https://sourceforge.net/tracker/?func=detail&aid=3474225&group_id=76834&atid=1205376 BTO:0002697 nucleus supraopticus superior colliculus AAO:0010609 BM:MB-Tec-SC BTO:0000965 EFO:0002474 EV:0100245 FMA:62403 GAID:576 MA:0001068 MESH:A08.186.211.132.659.237.816 NIF_GrossAnatomy:birnlex_1040 Part of the midbrain tectum consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of superior colliculus [Wikipedia.org and Neuronames (MM)]. TAO:0000445 The brain structure where the two separate inputs from the two eyes are combined into a single, integrated map.[AAO] The roof of the midbrain, morphologically visible by the end of the segmentation period. Kimmel et al, 1995.[TAO] The term SC is used when discussing mammals, and OT for other vertebrates[WP]. The tectum is a layered structure, with a number of layers that vary by species. The superficial layers are sensory-related, and receive input from the eyes as well as other sensory systems.[1] The optic tectum is one of the fundamental components of the vertebrate brain, existing across the full range of species from hagfish to human.[4] (See the brain article for background.) Some aspects of the structure are very consistent, including a structure composed of a number of layers, with a dense input from the optic nerve to the superficial layers and another strong input conveying somatosensory input to deeper layers. Other aspects are highly variable, such as the total number of layers (from 3 in the African lungfish to 15 in the goldfish[5]), and the number of different types of cells (from 2 in the lungfish to 27 in the house sparrow[5]). In hagfish, lamprey, and shark it is a relatively small structure, but in teleost fish it is greatly expanded, in some cases becoming the largest structure in the brain. (See the adjoining drawing of a codfish brain.) In amphibians, reptiles, and especially birds it is also a very significant component, but in mammals it is dwarfed by the massive expansion of the cerebral cortex. UBERON:0001945 Wikipedia:Superior_colliculus XAO:0003226 ZFA:0000445 anterior colliculus anterior corpus quadrigeminum corpora bigemina cranial colliculus dorsal midbrain http://upload.wikimedia.org/wikipedia/commons/d/da/Cn3nucleus.png http://upload.wikimedia.org/wikipedia/commons/thumb/d/da/Cn3nucleus.png/200px-Cn3nucleus.png optic lobe optic tectum tectal lobe tectum tectum opticum uberon Wikipedia:Superior_colliculus ZFA:0000445 optic tectum 2012-06-20 AAO AAO:0010609 PMID:17952453 The brain structure where the two separate inputs from the two eyes are combined into a single, integrated map.[AAO] 2012-08-14 TAO TAO:0000445 The roof of the midbrain, morphologically visible by the end of the segmentation period. Kimmel et al, 1995.[TAO] ZFIN:curator NIF_GrossAnatomy:birnlex_1040 Part of the midbrain tectum consisting of paired bodies that sit caudal to the thalamus and surround the pineal gland in the mesencephalon of vertebrate brains. It comprises the rostral aspect of the midbrain, posterior to the periaqueductal gray and adjacent superior the inferior colliculus. The inferior and superior colliculi are known collectively as the corpora quadrigemina (Latin, quadruplet bodies). It consists of several identified cellular layers and also comprises the brachium of the superior colliculus and commissure of superior colliculus [Wikipedia.org and Neuronames (MM)]. Wikipedia:Superior_colliculus inferior colliculus ABA:IC EFO:0002465 EV:0100246 FMA:62404 GAID:575 MA:0001067 MESH:A08.186.211.132.659.237.364 NIF_GrossAnatomy:birnlex_806 The inferior colliculi together with the superior colliculi form the eminences of the corpora quadrigemina, and also part of the tectal region of the midbrain. The inferior colliculus lies caudal to its counterpart - the superior colliculus - above the trochlear nerve, and at the base of the projection of the medial geniculate nucleus (MGN) and the lateral geniculate nucleus (LGN). The inferior colliculus is the principal midbrain nucleus of the auditory pathway and receives input from several more peripheral brainstem nuclei in the auditory pathway, as well as inputs from the auditory cortex. The inferior colliculus has three subnuclei. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0001946 Wikipedia:Inferior_colliculus caudal colliculus colliculus inferior http://upload.wikimedia.org/wikipedia/commons/2/26/Gray711.png inferior colliculi posterior colliculus posterior corpus quadrigeminum uberon Wikipedia:Inferior_colliculus colliculus inferior EV:0100246 inferior colliculi The inferior colliculi together with the superior colliculi form the eminences of the corpora quadrigemina, and also part of the tectal region of the midbrain. The inferior colliculus lies caudal to its counterpart - the superior colliculus - above the trochlear nerve, and at the base of the projection of the medial geniculate nucleus (MGN) and the lateral geniculate nucleus (LGN). The inferior colliculus is the principal midbrain nucleus of the auditory pathway and receives input from several more peripheral brainstem nuclei in the auditory pathway, as well as inputs from the auditory cortex. The inferior colliculus has three subnuclei. [WP,unvetted]. Wikipedia:Inferior_colliculus blood plasma BTO:0000131 Body substance in liquid state contained in the lumen of arterial and venous trees, blood capillary and the cardiac chambers; constitutes the liquid phase of blood.[FMA] CALOHA:TS-0800 EFO:0001905 FMA:62970 GAID:1178 MA:0002501 MAT:0000052 MESH:A12.207.152.693 MIAA:0000052 OpenCyc:Mx4rEg4ZYrIbEduAAAAOpmP6tw UBERON:0001969 UMLS:C0032105 Wikipedia:Blood_plasma ncithesaurus:Plasma plasma portion of blood plasma portion of plasma uberon Body substance in liquid state contained in the lumen of arterial and venous trees, blood capillary and the cardiac chambers; constitutes the liquid phase of blood.[FMA] FMA:FMA Wikipedia:Blood_plasma bile a bitter-tasting, dark green to yellowish brown fluid, produced by the liver of most vertebrates, that aids the process of digestion of lipids in the small intestine. In many species, bile is stored in the gallbladder and upon eating is discharged into the duodenum. Bile is a composition of the following materials: water (85%), bile salts (10%), mucus and pigments (3%), fats (1%), inorganic salts (0.7%) and cholesterol (0.3%)[WP]. BTO:0000121 CALOHA:TS-1172 ENVO:02000023 FMA:62971 GAID:1157 MA:0002513 MESH:A12.200.087 UBERON:0001970 UMLS:C0005388 Wikipedia:Bile fel galen:Bile gall ncithesaurus:Bile uberon blood vessel A vessel through which blood circulates in the body. AAO:0011004 AEO:0000207 Any of the vessels through which blood circulates in the body. [XAO:0001011_][VHOG] Any of the vessels through which blood circulates in the body.[AAO] BTO:0001102 CALOHA:TS-0080 EFO:0000817 EHDAA2:0003252 EHDAA:240 FMA:50722 FMA:63183 GAID:169 MA:0000060 MAT:0000393 MESH:A07.231 NIF_GrossAnatomy:nlx_anat_090901 OpenCyc:Mx4rvVjxlpwpEbGdrcN5Y29ycA SCTID:361097006 TAO:0002137 The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] UBERON:0001981 UMLS:C0005847 VHOG:0001250 Wikipedia:Blood_vessel XAO:0001011 ZFA:0005314 http://upload.wikimedia.org/wikipedia/commons/2/29/Circulatory_System_en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/2/29/Circulatory_System_en.svg/200px-Circulatory_System_en.svg.png ncithesaurus:Blood_Vessel note that FMA:63183 Blood vessel is categorized as 'general anatomical term'. Suggestion to map to region of vascular tree from Terry H at JAX. Taxon notes: annelids have blood vessels, but this class is not applicable to annelids. region of vascular tree organ uberon vas sanguineum vascular tree organ region VHOG:0001250 FMA:50722 vascular tree organ region 2012-06-20 AAO AAO:0011004 AAO:EJS Any of the vessels through which blood circulates in the body.[AAO] 2012-09-17 DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006) The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] VHOG VHOG:0001250 http://bgee.unil.ch/ Wikipedia:Blood_vessel vas sanguineum GO:0072360 2012-09-17 Any of the vessels through which blood circulates in the body. [XAO:0001011_][VHOG] VHOG VHOG:0001250 http://bgee.unil.ch/ A vessel through which blood circulates in the body. BTO:0001102 Wikipedia:Blood_vessel FMA:50722 region of vascular tree organ capillary AAO:0010252 Any of the smallest blood vessels connecting arterioles with venules. Any of the tiny blood vessels connecting the arterioles to the venules.[AAO] BTO:0002045 CALOHA:TS-2006 EFO:0001906 EMAPA:28039 EMAPA:28075 EV:0100035 FMA:63194 MA:0000065 MESH:A07.231.432.410 NIF_GrossAnatomy:nlx_anat_090902 OpenCyc:Mx4rvWEU-5wpEbGdrcN5Y29ycA Structure notes: capillaries lack tunica media and tunica adventitia; only the endothelial wall of the tunica intima belongs TAO:0005250 The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] UBERON:0001982 UMLS:C0935624 VHOG:0001253 Wikipedia:Capillary XAO:0000116 ZFA:0005250 blood capillary capillary vessel http://upload.wikimedia.org/wikipedia/commons/2/2f/A_red_blood_cell_in_a_capillary,_pancreatic_tissue_-_TEM.jpg ncithesaurus:Capillary uberon 2012-09-17 DOI:10.1196/annals.1341.002 Bishopric NH, Evolution of the heart from bacteria to man. Annals of the New York Academy of Sciences (2006) The appearance of Chordata and subsequently the vertebrates is accompanied by a rapid structural diversification of this primitive linear heart: looping, unidirectional circulation, an enclosed vasculature, and the conduction system.[well established][VHOG] VHOG VHOG:0001253 http://bgee.unil.ch/ VHOG:0001253 2012-06-20 AAO AAO:0010252 AAO:BJB Any of the tiny blood vessels connecting the arterioles to the venules.[AAO] Any of the smallest blood vessels connecting arterioles with venules. ISBN10:0073040584 Wikipedia:Capillary endothelium A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA] BTO:0000393 CALOHA:TS-0278 EFO:0002548 EMAPA:18578 EMAPA:19063 FMA:63916 GAID:520 MESH:A10.272.491 SCTID:27168002 The term 'endothelium' has been either restricted to the continuous cell layer of the vertebrates, as we are assuming here, or applied to all the cells able to adhere to the luminal surface of the vascular basement membrane (Casley-Smith 1980) UBERON:0001986 UMLS:C0014257 endothelial galen:Endothelium ncithesaurus:Endothelium uberon A layer of epithelium that lines the heart, blood vessels (endothelium, vascular), lymph vessels (endothelium, lymphatic), and the serous cavities of the body[MESH]. Simple squamous epithelium which lines blood and lymphatic vessels and the heart[FMA] FMA:63916 MESH:A10.272.491 placenta BTO:0001078 CALOHA:TS-0799 EFO:0001407 EV:0100119 FMA:63934 GAID:379 MA:0000386 MAT:0000279 MESH:A16.759 MIAA:0000279 OpenCyc:Mx4rvv4zZ5wpEbGdrcN5Y29ycA Phylogenetic analyses of the concatenated data set using maximum parsimony, maximum likelihood and distance based (neighbour joining) methods all converged on a nearly identical, well supported topology defining four principal eutherian lineages. The results affirm monophyly of traditional placental orders (except Artiodactyla and Insectivora), and also support some previously proposed, as well as new, superordinal clades.[well established][VHOG] SCTID:181455002 Taxon notes: Eutherians: In eutherians, the chorioallantoic membrane of the fetus establishes intimate contact with the adjacent vascular wall of the mother's uterus to produce the placenta, a composite structure formed in part from tissues of the fetus and in part from tissues of the mother [ISBN10:0073040584 "Vertebrates, Kardong"]. TODO - is taxon restriction too strict, even if we restrict def to allantoic placenta? - WP says: also found in some snakes and lizards with varying levels of development up to mammalian levels. Pough et al. 1992. Herpetology: Third Edition. Pearson Prentice Hall:Pearson Education, Inc., 2002. // See also: doi:10.1002/jmor.11011 // Marsupials possess only a rudimentary placenta, with reduced nutrient and oxygen exchanging capabilities. UBERON:0001987 UMLS:C0032043 VHOG:0001266 Wikipedia:Placenta allantoic placenta eutherian placenta http://upload.wikimedia.org/wikipedia/commons/f/f1/Placenta.svg http://upload.wikimedia.org/wikipedia/commons/thumb/6/66/Placenta.jpg/200px-Placenta.jpg ncithesaurus:Placenta organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. placental uberon 2012-09-17 DOI:10.1038/35054550 Murphy WJ, Eizirik E, Johnson WE, Zhang YP, Ryder OA, O'Brien SJ, Molecular phylogenetics and the origins of placental mammals. Nature (2001) Phylogenetic analyses of the concatenated data set using maximum parsimony, maximum likelihood and distance based (neighbour joining) methods all converged on a nearly identical, well supported topology defining four principal eutherian lineages. The results affirm monophyly of traditional placental orders (except Artiodactyla and Insectivora), and also support some previously proposed, as well as new, superordinal clades.[well established][VHOG] VHOG VHOG:0001266 http://bgee.unil.ch/ Wikipedia VHOG:0001266 ISBN10:0073040584 allantoic placenta ISBN10:0073040584 Wikipedia:Placenta http://www.med.umich.edu/lrc/coursepages/m1/embryology/embryo/06placenta.htm organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin[GO]. The fetal portion of the placenta is known as the villous chorion. The maternal portion is known as the decidua basalis. The two portions are held together by anchoring villi that are anchored to the decidua basalis by the cytotrophoblastic shell. superior cervical ganglion BTO:0001325 EFO:0001945 EHDAA:8943 EMAPA:18441 FMA:6467 GAID:712 MA:0001156 MESH:A08.340.315.350.850 RETIRED_EHDAA2:0001946 SCTID:279278002 TAO:0001572 This class was created automatically from a combination of ontologies Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain. UBERON:0001989 UMLS:C0206257 Wikipedia:Superior_cervical_ganglion ZFA:0001572 ganglion cervicale superius http://upload.wikimedia.org/wikipedia/commons/e/e1/Gray844.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/e1/Gray844.png/200px-Gray844.png ncithesaurus:Superior_Cervical_Ganglion superior cervical sympathetic ganglion superior sympathetic cervical ganglion uberon Trunk ganglion which is bilaterally paired and located at the anterior end of the sympathetic ganglion chain. Wikipedia:Superior_cervical_ganglion ZFIN:curator Wikipedia:Superior_cervical_ganglion ganglion cervicale superius BTO:0001325 ganglion cervicale superius olfactory epithelium AAO:0010158 BTO:0000108 CALOHA:TS-0703 EFO:0001972 EHDAA2:0001228 EHDAA:4774 EMAPA:17606 Epithelium inside the nasal cavity that is responsible for detecting odors[WP]. FMA:64803 Genes: V1Rs, Trpc2 present in lamprey // See also: FMA:77199 MA:0001325 MAT:0000445 NIF_GrossAnatomy:birnlex_2703 SCTID:37623003 Sensory lining of the medial wall, roof and anterior aspects of the main olfactory cavity (cavum principale).[AAO] TAO:0000554 UBERON:0001997 UBERON:0004853 UMLS:C0599332 VHOG:0000985 Wikipedia:Olfactory_epithelium ZFA:0000554 http://upload.wikimedia.org/wikipedia/commons/4/4d/Gray857.png http://upload.wikimedia.org/wikipedia/commons/thumb/4/4d/Gray857.png/200px-Gray857.png nasal cavity olfactory epithelium nasal epithelium nasal sensory epithelium ncithesaurus:Olfactory_Epithelium olfactory membrane olfactory mucosa olfactory sensory epithelium relationship loss: part_of principal cavity (AAO:0000992)[AAO] sensory olfactory epithelium uberon GAID:303 olfactory mucosa VHOG:0000985 MA:0001325 nasal cavity olfactory epithelium NIF_GrossAnatomy:birnlex_2703 olfactory membrane 2012-06-20 AAO AAO:0010158 AAO:DSM Sensory lining of the medial wall, roof and anterior aspects of the main olfactory cavity (cavum principale).[AAO] 2012-06-20 AAO AAO:0010158 relationship loss: part_of principal cavity (AAO:0000992)[AAO] Epithelium inside the nasal cavity that is responsible for detecting odors[WP]. Wikipedia:Olfactory_epithelium enteric nervous system BTO:0002506 CALOHA:TS-2093 EFO:0000895 EHDAA2:0004202 EMAPA:26922 FMA:66070 GAID:799 MA:0000222 MAT:0000102 MESH:A08.800.050.150 MIAA:0000102 NIF_GrossAnatomy:birnlex_1166 PNS - enteric TAO:0001155 The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]. This class was created automatically from a combination of ontologies UBERON:0002005 Wikipedia:Enteric_nervous_system ZFA:0001155 uberon The enteric nervous system is composed of two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gall bladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation[GO]. Wikipedia:Enteric_nervous_system pulmonary artery AAO:0010221 BTO:0000778 CALOHA:TS-0839 EFO:0001399 EHDAA2:0001575 EHDAA:4351 EMAPA:17008 FMA:66326 GAID:505 MA:0002031 MESH:A07.231.114.715 Major artery which supplies blood to the lungs.[AAO] On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG] One of two arteries, leaving from the heart, the left one supplying the left lung and the right one supplying the right lung. [TFD][VHOG] OpenCyc:Mx4rvVjbIpwpEbGdrcN5Y29ycA SCTID:181380003 The pulmonary arteries carry blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood. In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung. [WP,unvetted]. UBERON:0002012 UMLS:C0034052 VHOG:0000982 Wikipedia:Pulmonary_artery XAO:0004162 arteria pulmonalis galen:PulmonaryArtery http://upload.wikimedia.org/wikipedia/commons/thumb/d/db/Alveoli_diagram.png/200px-Alveoli_diagram.png ncithesaurus:Pulmonary_Artery pulmonary arterial tree pulmonary arterial tree organ part truncus pulmonalis uberon Wikipedia:Pulmonary_artery truncus pulmonalis Wikipedia:Pulmonary_artery arteria pulmonalis 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620 On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG] VHOG VHOG:0000982 http://bgee.unil.ch/ VHOG:0000982 2012-09-17 One of two arteries, leaving from the heart, the left one supplying the left lung and the right one supplying the right lung. [TFD][VHOG] VHOG VHOG:0000982 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/pulmonary+artery The pulmonary arteries carry blood from heart to the lungs. They are the only arteries (other than umbilical arteries in the fetus) that carry deoxygenated blood. In the human heart, the pulmonary trunk (pulmonary artery or main pulmonary artery) begins at the base of the right ventricle. It is short and wide - approximately 5 cm (2 inches) in length and 3 cm (1.2 inches) in diameter. It then branches into two pulmonary arteries (left and right), which deliver deoxygenated blood to the corresponding lung. [WP,unvetted]. Wikipedia:Pulmonary_artery 2012-06-20 AAO AAO:0010221 AAO:BJB Major artery which supplies blood to the lungs.[AAO] occipital lobe BTO:0000293 CALOHA:TS-0693 EFO:0000915 EV:0100170 FMA:67325 GAID:678 MA:0000913 MAT:0000507 MESH:A08.186.211.730.885.213.571 NIF_GrossAnatomy:birnlex_1136 Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure. OpenCyc:Mx4rv9OFy5wpEbGdrcN5Y29ycA SCTID:180923002 UBERON:0002021 UMLS:C0028785 Wikipedia:Occipital_lobe http://upload.wikimedia.org/wikipedia/commons/8/8c/Gray727_occipital_lobe.png http://upload.wikimedia.org/wikipedia/commons/thumb/8/8c/Gray727_occipital_lobe.png/200px-Gray727_occipital_lobe.png lobus occipitalis ncithesaurus:Occipital_Lobe occipital cortex occipital neocortex regio occipitalis uberon FMA:67325 FMA:TA regio occipitalis Wikipedia:Occipital_lobe lobus occipitalis Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure. Wikipedia:Occipital_lobe DHB:Ocx occipital neocortex hindbrain AAO:0010150 ABA:HB BTO:0000672 CALOHA:TS-0457 EFO:0000923 EHDAA2:0000746 EHDAA:3514 EHDAA:6487 EMAPA:16916 FMA:67687 Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] MA:0000195 MAT:0000107 MESH:A08.186.211.132.810 MIAA:0000107 NIF_GrossAnatomy:birnlex_942 Posterior part of the brain consisting of the cerebellum and medulla oblongata.[AAO] TAO:0000029 The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[TAO] The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. UBERON:0002028 UMLS:C0035507 VHOG:0000070 Wikipedia:Rhombencephalon XAO:0000015 ZFA:0000029 http://upload.wikimedia.org/wikipedia/commons/5/54/EmbryonicBrain.svg http://upload.wikimedia.org/wikipedia/commons/thumb/5/54/EmbryonicBrain.svg/200px-EmbryonicBrain.svg.png in MA, brainstem and hindbrain and part-of siblings under brain, consistent with FMA and NIF. See also notes for cerebellum. We weaken the relation in ABA to overlaps ncithesaurus:Hind-Brain relationship loss: develops_from hindbrain neural tube (TAO:0007043)[TAO] rhombencephalic rhombencephalon uberon 2012-08-14 TAO TAO:0000029 relationship loss: develops_from hindbrain neural tube (TAO:0007043)[TAO] 2012-08-14 TAO TAO:0000029 The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[TAO] ZFIN:curator The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata (From: Neuroanatomy of the Zebrafish Brain)[ZFA]. Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata[FMA]. Wikipedia:Rhombencephalon ZFA:0000029 ZFIN:curator 2012-06-20 AAO AAO:0010150 AAO:BJB Posterior part of the brain consisting of the cerebellum and medulla oblongata.[AAO] definitional VHOG:0000070 ABA 2012-09-17 DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999) Fine structural, computerized three-dimensional (3D) mapping of cell connectivity in the amphioxus nervous system and comparative molecular genetic studies of amphioxus and tunicates have provided recent insights into the phylogenetic origin of the vertebrate nervous system. The results suggest that several of the genetic mechanisms for establishing and patterning the vertebrate nervous system already operated in the ancestral chordate and that the nerve cord of the proximate invertebrate ancestor of the vertebrates included a diencephalon, midbrain, hindbrain, and spinal cord.[well established][VHOG] VHOG VHOG:0000070 http://bgee.unil.ch/ ABA ZFA suprachiasmatic nucleus ABA:SCH BM:Die-Hy-SCN BTO:0001822 CALOHA:TS-0992 EFO:0002475 EV:0100228 FMA:67883 GAID:645 MA:0000843 MESH:A08.186.211.730.385.357.342.625 NIF_GrossAnatomy:birnlex_1325 SCN SCTID:369132004 TAO:0000441 The suprachiasmatic nucleus, or nuclei, (SCN), a tiny region on the brain's midline in a shallow impression of the optic chiasm, is responsible for controlling endogenous circadian rhythms. The neuronal and hormonal activities it generates regulate many different body functions over a 24-hour period. The SCN, pine cone shaped and the size of a grain of rice, interacts with many other regions of the brain. It contains several cell types and several different peptides and neurotransmitters. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0002034 UMLS:C0038866 VHOG:0000036 Wikipedia:Suprachiasmatic_nucleus XAO:0004072 ZFA:0000441 http://upload.wikimedia.org/wikipedia/commons/8/8c/HypothalamicNuclei.PNG http://upload.wikimedia.org/wikipedia/commons/thumb/8/8c/HypothalamicNuclei.PNG/200px-HypothalamicNuclei.PNG ncithesaurus:Suprachiasmatic_Nucleus nucleus suprachiasmaticus suprachiasmatic nucleus of hypothalamus uberon ABA Wikipedia:Suprachiasmatic_nucleus nucleus suprachiasmaticus ABA ABA ABA ABA ABA BTO:0001822 SCN VHOG:0000036 The suprachiasmatic nucleus, or nuclei, (SCN), a tiny region on the brain's midline in a shallow impression of the optic chiasm, is responsible for controlling endogenous circadian rhythms. The neuronal and hormonal activities it generates regulate many different body functions over a 24-hour period. The SCN, pine cone shaped and the size of a grain of rice, interacts with many other regions of the brain. It contains several cell types and several different peptides and neurotransmitters. [WP,unvetted]. Wikipedia:Suprachiasmatic_nucleus cerebellum AAO:0010485 ABA:CB BM:CB BTO:0000232 CALOHA:TS-0125 Dorsal part of the hindbrain that coordinates muscle movement, posture, and balance.[AAO] EFO:0000327 EHDAA2:0000232 EMAPA:17787 EV:0100293 FMA:67944 GAID:595 However, although the lamprey possesses a region comparable to the cerebellum and display expression of LjFgf8/17 at the MHB (midbrain hindbrain boundary), it does not have Purkinje cells and cerebellar nuclei, as well as components of the rhombic lip-derived cerebellar and pre-cerebellar systems. It is noteworthy that the latter structures require specific expression of Pax6 in the rhombic lip of the gnathostome hindbrain. Interestingly, the lamprey rhombic lip does not express Pax6. Thus, it is tempting to speculate that in vertebrate evolution the rostral hindbrain is incapable of differentiating into the cerebellum before the co-option of Pax6 in that region. In other words, cerebellum has been brought about as an evolutionary innovation in gnathostomes, based on exaptation of MHB, rhombic lip, and some regulatory gene expression already present in the vertebrate common ancestor.[well established][VHOG] MA:0000198 MAT:0000110 MESH:A08.186.211.132.810.428.200 MIAA:0000110 NIF_GrossAnatomy:birnlex_1489 OpenCyc:Mx4rvl1eipwpEbGdrcN5Y29ycA Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. SCTID:180924008 Specialized brain region derived from the dorsal metencephalon (anterior hindbrain, and perhaps including posterior midbrain) and becoming distinctive late in the segmentation period. Kimmel et al, 1995.[TAO] TAO:0000100 UBERON:0002037 UMLS:C0007765 VHOG:0000024 XAO:0003098 ZFA:0000100 cerebellar epencephalon-1 http://upload.wikimedia.org/wikipedia/commons/thumb/a/a7/Cerebellum_NIH.png/200px-Cerebellum_NIH.png ncithesaurus:Cerebellum note that almost all AOs agree that the cerebellum is part of the hindbrain (sometimes specifically part of the metencephalon, which, when present, is part of the hindbrain). However, ABA has cerebellum and brain stem as partof siblings, with the hindbrain part of the brainstem uberon 2012-09-17 DOI:10.1016/j.ydbio.2005.02.008 Murakami Y, Uchida K, Rijli FM and Kuratani S, Evolution of the brain developmental plan: Insights from agnathans. Developmental Biology (2005) However, although the lamprey possesses a region comparable to the cerebellum and display expression of LjFgf8/17 at the MHB (midbrain hindbrain boundary), it does not have Purkinje cells and cerebellar nuclei, as well as components of the rhombic lip-derived cerebellar and pre-cerebellar systems. It is noteworthy that the latter structures require specific expression of Pax6 in the rhombic lip of the gnathostome hindbrain. Interestingly, the lamprey rhombic lip does not express Pax6. Thus, it is tempting to speculate that in vertebrate evolution the rostral hindbrain is incapable of differentiating into the cerebellum before the co-option of Pax6 in that region. In other words, cerebellum has been brought about as an evolutionary innovation in gnathostomes, based on exaptation of MHB, rhombic lip, and some regulatory gene expression already present in the vertebrate common ancestor.[well established][VHOG] VHOG VHOG:0000024 http://bgee.unil.ch/ NIF ZFA 2012-06-20 AAO AAO:0010485 AAO:BJB Dorsal part of the hindbrain that coordinates muscle movement, posture, and balance.[AAO] ABA BTO:0000232 ISBN:3764351209 MESH:A08.186.211.132.810.428.200 Part of the metencephalon that lies in the posterior cranial fossa behind the brain stem. It is concerned with the coordination of movement[MESH]. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe[BTO]. Brain structure derived from the anterior hindbrain, and perhaps including posterior midbrain. The cerebellum plays a role in somatic motor function, the control of muscle tone, and balance[ZFA]. ZFA:0000100 https://sourceforge.net/tracker/index.php?func=detail&aid=3291162&group_id=76834&atid=1205376 VHOG:0000024 2012-08-14 Specialized brain region derived from the dorsal metencephalon (anterior hindbrain, and perhaps including posterior midbrain) and becoming distinctive late in the segmentation period. Kimmel et al, 1995.[TAO] TAO TAO:0000100 ZFIN:curator ABA substantia nigra (...) the substantia nigra first appears in reptiles and is best developed in primates.[well established][VHOG] BTO:0000143 CALOHA:TS-0990 EFO:0000922 EHDAA2:0004711 EV:0100247 FMA:67947 GAID:581 MA:0000210 MAT:0000504 MESH:A08.186.211.132.659.687 NIF_GrossAnatomy:birnlex_789 SCTID:279286002 Soemmering's substance Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA]. TODO: In BTO and NIF, part of basal ganglion which is part of telencephalon - but this is inconsistent with being part of midbrain, if these are spatially disjoint, as in ABA UBERON:0002038 UMLS:C0038590 VHOG:0001573 Wikipedia:Substantia_nigra http://upload.wikimedia.org/wikipedia/commons/5/5f/Midbraincrosssection.png http://upload.wikimedia.org/wikipedia/commons/thumb/5/5f/Midbraincrosssection.png/200px-Midbraincrosssection.png ncithesaurus:Substantia_Nigra nucleus of basis pedunculi substancia nigra uberon FMA:67947 Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons[FMA]. Wikipedia:Substantia_nigra VHOG:0001573 NIF Wikipedia:Substantia_nigra substancia nigra multiple (...) the substantia nigra first appears in reptiles and is best developed in primates.[well established][VHOG] 2012-09-17 ISBN:978-0471090588 Hildebrand M, Analysis of vertebrate structure (1983) p.336 VHOG VHOG:0001573 http://bgee.unil.ch/ dorsal raphe nucleus A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted]. ABA:DR BM:MB-DR BTO:0002434 EFO:0001919 FMA:68462 MA:0002980 NIF_GrossAnatomy:birnlex_982 TAO:0000366 TODO check dorsal vs inferior. ZF has no pons. UBERON:0002043 Wikipedia:Dorsal_raphe_nucleus ZFA:0000366 cell group b7 dorsal nucleus of the raphe dorsal nucleus raphe dorsal raphe http://upload.wikimedia.org/wikipedia/commons/c/c6/Drn.png http://upload.wikimedia.org/wikipedia/en/thumb/c/c6/Drn.png/200px-Drn.png inferior raphe nucleus nucleus raphe dorsalis nucleus raphe posterior nucleus raphes dorsalis nucleus raphes posterior posterior raphe nucleus uberon ABA BTO:0002434 nucleus raphes posterior FMA:TA nucleus raphes posterior Wikipedia:Dorsal_raphe_nucleus nucleus raphe dorsalis GO:0021724 posterior raphe nucleus FMA:68462 dorsal nucleus raphe Wikipedia:Dorsal_raphe_nucleus nucleus raphe posterior BTO:0002434 BrainInfo:512 nucleus raphes dorsalis GO:0021724 inferior raphe nucleus NIF_GrossAnatomy:birnlex_982 dorsal raphe FMA:68462 posterior raphe nucleus FMA:68462 cell group b7 BrainInfo:512 FMA:68462 dorsal nucleus of the raphe A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic[NIF]. The dorsal raphe nucleus is a part of the raphe nucleus and consists of rostral and caudal subdivisions. The rostral aspect of the dorsal raphe is further divided into interfascicular, ventral, ventrolateral and dorsal subnuclei. The projections of the dorsal raphe have been found to vary topographically, and thus the subnuclei differ in their projections. An increased number of cells in the lateral aspects of the dorsal raphe is characteristic of humans and other primates. [WP,unvetted]. NIF_GrossAnatomy:birnlex_982 Wikipedia:Dorsal_raphe_nucleus https://sourceforge.net/tracker/?func=detail&atid=440764&aid=3248146&group_id=36855 thyroid gland (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (2) a groove in the pharyngeal floor known as the endostyle, or a thyroid gland derived from part of the endostyle (...).[well established][VHOG] A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. AAO:0010544 BTO:0001379 CALOHA:TS-1047 EFO:0000861 EHDAA2:0002028 EHDAA:2148 EHDAA:2975 EMAPA:17068 EMAPA:18827 EV:0100133 Either of paired structures located in the throat which develop from the ventral wall of the pharynx and excretes hormones involved in the morphological and functional changes during metamorphosis as well as influencing other tissues.[AAO] FMA:9603 GAID:465 In fish, it is usually located below the gills and is not always divided into distinct lobes. However, in some teleosts, patches of thyroid tissue are found elsewhere in the body, associated with the kidneys, spleen, heart, or eyes In larval lampreys, the thyroid originates as an exocrine gland, secreting its hormones into the gut, and associated with the larva's filter-feeding apparatus. In the adult lamprey, the gland separates from the gut, and becomes endocrine, but this path of development may reflect the evolutionary origin of the thyroid. For instance, the closest living relatives of vertebrates, the tunicates and Amphioxus, have a structure very similar to that of larval lampreys, and this also secretes iodine-containing compounds (albeit not thyroxine) In tetrapods, the thyroid is always found somewhere in the neck region. In most tetrapod species, there are two paired thyroid glands - that is, the right and left lobes are not joined together. However, there is only ever a single thyroid gland in most mammals, and the shape found in humans is common to many other species MA:0000129 MAT:0000081 MESH:A06.407.900 MIAA:0000081 OpenCyc:Mx4rvVjLT5wpEbGdrcN5Y29ycA SCTID:181117000 UBERON:0002046 UMLS:C0040132 VHOG:0000418 Wikipedia:Thyroid XAO:0000162 galen:ThyroidGland glandula thyroidea http://upload.wikimedia.org/wikipedia/commons/a/a3/Illu_thyroid_parathyroid.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/c/c6/Illu_endocrine_system.jpg/200px-Illu_endocrine_system.jpg ncithesaurus:Thyroid_Gland thyroid uberon 2012-06-20 AAO AAO:0010544 AAO:BJB Either of paired structures located in the throat which develop from the ventral wall of the pharynx and excretes hormones involved in the morphological and functional changes during metamorphosis as well as influencing other tissues.[AAO] In larval lampreys, the thyroid originates as an exocrine gland, secreting its hormones into the gut, and associated with the larva's filter-feeding apparatus. In the adult lamprey, the gland separates from the gut, and becomes endocrine, but this path of development may reflect the evolutionary origin of the thyroid. For instance, the closest living relatives of vertebrates, the tunicates and Amphioxus, have a structure very similar to that of larval lampreys, and this also secretes iodine-containing compounds (albeit not thyroxine) NCBITaxon:7746 Romer Wikipedia:Thyroid_gland#Other_animals In tetrapods, the thyroid is always found somewhere in the neck region. In most tetrapod species, there are two paired thyroid glands - that is, the right and left lobes are not joined together. However, there is only ever a single thyroid gland in most mammals, and the shape found in humans is common to many other species NCBITaxon:32523 Romer Wikipedia:Thyroid_gland#Other_animals (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (2) a groove in the pharyngeal floor known as the endostyle, or a thyroid gland derived from part of the endostyle (...).[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28 VHOG VHOG:0000418 http://bgee.unil.ch/ Wikipedia:Thyroid glandula thyroidea A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin[BTO]. BTO:0001379 Wikipedia:Thyroid VHOG:0000418 In fish, it is usually located below the gills and is not always divided into distinct lobes. However, in some teleosts, patches of thyroid tissue are found elsewhere in the body, associated with the kidneys, spleen, heart, or eyes NCBITaxon:32443 Romer Wikipedia:Thyroid_gland#Other_animals lung AAO:0000275 AAO:0010567 BTO:0000763 CALOHA:TS-0568 EFO:0000934 EHDAA2:0001042 EHDAA:1554 EHDAA:2205 EMAPA:16728 EV:0100042 Either of two organs which allow gas exchange absorbing oxygen from inhaled air and releasing carbon dioxide with exhaled air.[AAO] FMA:7195 GAID:345 Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG] MA:0000415 MAT:0000135 MESH:A04.411 MIAA:0000135 OpenCyc:Mx4rvVjKy5wpEbGdrcN5Y29ycA Respiration organ present in all air-breathing animals whose principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere[WP]. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax[GO]. SCTID:181216001 UBERON:0002048 UMLS:C0024109 VHOG:0000310 Wikipedia:Lung XAO:0000119 galen:Lung ncithesaurus:Lung pulmo pulmonary respiration organ in all air-breathing animals, including most tetrapods, a few fish and a few snails. In mammals and the more complex life forms, the two lungs are located in the chest on either side of the heart. Their principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere. This exchange of gases is accomplished in the mosaic of specialized cells that form millions of tiny, exceptionally thin-walled air sacs called alveoli. // Avian lungs do not have alveoli as mammalian lungs do, they have Faveolar lungs. They contain millions of tiny passages known as para-bronchi, connected at both ends by the dorsobronchi // Snakes and limbless lizards typically possess only the right lung as a major respiratory organ; the left lung is greatly reduced, or even absent. Amphisbaenians, however, have the opposite arrangement, with a major left lung, and a reduced or absent right lung [WP] uberon VHOG:0000310 pulmo 2012-09-17 ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.210, DOI:10.1371/journal.pone.0024019 Zheng W, Wang Z, Collins JE, Andrews RM, Stemple D, Gong Z, Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung. PLoS One (2011) Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG] VHOG VHOG:0000310 http://bgee.unil.ch/ BTO:0000763 Respiration organ present in all air-breathing animals whose principal function is to transport oxygen from the atmosphere into the bloodstream, and to release carbon dioxide from the bloodstream into the atmosphere[WP]. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax[GO]. Wikipedia:Lung 2012-06-20 AAO AAO:0010567 AAO:SBH Either of two organs which allow gas exchange absorbing oxygen from inhaled air and releasing carbon dioxide with exhaled air.[AAO] embryonic structure AAO:0000138 AEO:0000125 Anatomical structure that is part of an embryo. Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[AAO] Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[TAO] Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[VSAO] BILA:0000034 BTO:0000174 CALOHA:TS-2110 EFO:0000461 FBbt:00004208 FMA:69067 GAID:407 MESH:A16 Note in FMA embryo is_a embryonic structure RETIRED_EHDAA2:0003169 SCTID:667009 TAO:0001105 UBERON:0002050 UMLS:C0013948 VSAO:0000178 XAO:0003042 ZFA:0001105 developing embryonic structure developing structure embryonale Struktur embryonic anatomical structure ncithesaurus:Embryonic_Structure uberon FBbt:00004208 developing embryonic structure 2012-08-14 Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[TAO] TAO TAO:0001105 ZFIN:curator BTO:0000174 embryonale Struktur 2012-08-14 Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[VSAO] VSAO VSAO:0000178 ZFIN:curator Anatomical structure that is part of an embryo. BTO:0000174 ZFIN:curator RETIRED_EHDAA2:0003169 embryonic anatomical structure 2012-06-20 AAO AAO:0000138 AAO:BJB Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[AAO] ciliary ganglion EFO:0002559 EHDAA2:0000251 EHDAA:5623 EMAPA:18222 FMA:6964 Little is known about the development of parasympathetic neurons apart from the ciliary ganglion in chicks. Although there are considerable gaps in our knowledge, some of the mechanisms controlling sympathetic and enteric neuron development appear to be conserved between mammals, avians and zebrafish.[uncertain][VHOG] MA:0001136 NIF_GrossAnatomy:nlx_anat_100304 SCTID:279281007 The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 1–2 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary – they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted]. This class was created automatically from a combination of ontologies UBERON:0002058 VHOG:0000805 Wikipedia:Ciliary_ganglion ganglion ciliare http://upload.wikimedia.org/wikipedia/commons/3/30/Augennerven.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/3/30/Augennerven.jpg/200px-Augennerven.jpg uberon The ciliary ganglion is a parasympathetic ganglion located in the posterior orbit. It measures 1–2 millimeters in diameter and contains approximately 2,500 neurons. Preganglionic axons from the Edinger-Westphal nucleus form synapses with these cells. The postganglionic axons run in the short ciliary nerves and innervate two eye muscles: the sphincter pupillae constricts the pupil, known as Miosis. The opposite, Mydriasis, is the dilation of the pupil. the ciliaris muscle contracts, releasing tension on the Zonular Fibers, making the lens more convex, also known as accommodation. Both of these muscles are involuntary – they are controlled by the autonomic nervous system. It is one of four parasympathetic ganglia of the head and neck.. [WP,unvetted]. Wikipedia:Ciliary_ganglion Wikipedia:Ciliary_ganglion ganglion ciliare VHOG:0000805 2012-09-17 DOI:10.1016/j.autneu.2010.03.002 Young HM, Cane KN, Anderson CR, Development of the autonomic nervous system: A comparative view. Autonomic Neuroscience : basic and clinical (2010) Little is known about the development of parasympathetic neurons apart from the ciliary ganglion in chicks. Although there are considerable gaps in our knowledge, some of the mechanisms controlling sympathetic and enteric neuron development appear to be conserved between mammals, avians and zebrafish.[uncertain][VHOG] VHOG VHOG:0000805 http://bgee.unil.ch/ umbilical vein BTO:0001509 CALOHA:TS-1082 EFO:0001940 EHDAA:1034 EHDAA:488 EMAPA:16243 EMAPA:16375 EV:0100392 Extraembryonic part of the vein passing through the umbilical cord to the fetus and returning the purified and nutrient blood from the placenta. [Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, adapted_from_Dorian_AF][VHOG] FMA:70317 GAID:542 MA:0002249 MESH:A07.231.908.670.874 OpenCyc:Mx4rdu17MmWaEd2AAABQjYGu0g RETIRED_EHDAA2:0002107 SCTID:367567000 The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]. UBERON:0002066 UMLS:C0041637 VHOG:0000015 Wikipedia:Umbilical_vein http://upload.wikimedia.org/wikipedia/commons/e/ee/Gray502.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/ee/Gray502.png/200px-Gray502.png ncithesaurus:Umbilical_Vein uberon vena umbilicalis 2012-09-17 Extraembryonic part of the vein passing through the umbilical cord to the fetus and returning the purified and nutrient blood from the placenta. [Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier, adapted_from_Dorian_AF][VHOG] VHOG VHOG:0000015 http://bgee.unil.ch/ The umbilical vein is a blood vessel present during fetal development that carries oxygenated blood from the placenta to the growing fetus. [WP,unvetted]. Wikipedia:Umbilical_vein VHOG:0000015 Wikipedia:Umbilical_vein vena umbilicalis dermis A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales. Le Guellec et al, 2004.[TAO] AAO:0000128 BTO:0000294 CALOHA:TS-2076 EFO:0000953 EV:0100154 Editor notes: Consider adding a layer-of-skin grouping class for all skin layers FMA:70323 GAID:1321 MA:0000152 MAT:0000153 MESH:A17.815.180 MIAA:0000153 SCTID:361696001 TAO:0001119 The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. UBERON:0002067 UMLS:C0011646 VHOG:0000108 When approaching controversies surrounding skin evolution, we need to remember that the skin consists of two layers, an epidermis and a dermis, not a single evolving structure. (...) It is little wonder that controversies about homology exist. If we think of the epidermis, the dermis, and their interactions as an evolving unit, then their specialized products (hair, feathers, and reptilian scales) are broadly homologous.[well established][VHOG] Wikipedia:Dermis XAO:0000217 ZFA:0001119 corium cutis dermal http://upload.wikimedia.org/wikipedia/commons/2/23/EpidermisPainted.svg ncithesaurus:Dermis uberon vertebrate dermis The dermis is a layer of skin between the epidermis (with which it makes up the skin) and subcutaneous tissues, and is composed of two layers, the papillary and reticular dermis[WP]. Wikipedia:Dermis ZFIN:curator BTO:0000294 cutis 2012-08-14 A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales. Le Guellec et al, 2004.[TAO] TAO TAO:0001119 ZFIN:curator FMA Wikipedia:Dermis corium BTO:0000294 corium 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.231-232 see also p.209 and p.228 and Figure 6-1 VHOG VHOG:0000108 When approaching controversies surrounding skin evolution, we need to remember that the skin consists of two layers, an epidermis and a dermis, not a single evolving structure. (...) It is little wonder that controversies about homology exist. If we think of the epidermis, the dermis, and their interactions as an evolving unit, then their specialized products (hair, feathers, and reptilian scales) are broadly homologous.[well established][VHOG] http://bgee.unil.ch/ VHOG:0000108 hair follicle BTO:0000554 CALOHA:TS-0432 EFO:0002464 EMAPA:18771 EMAPA:29741 EV:0100156 FMA:70660 GAID:934 MA:0000154 MESH:A10.272.497.500 OpenCyc:Mx4rvVjOI5wpEbGdrcN5Y29ycA SCTID:280830006 The earliest reliable record of hair is found in a fossil of the Paleocene period, in which the structure of hair cuticles is preserved. Its appearance suggests that the complicated structure of the hair follicle, closely similar to that of present-day mammals, had already appeared at this time.[well established][VHOG] UBERON:0002073 UMLS:C0221971 VHOG:0001268 Wikipedia:Hair_follicle a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. folliculus pili http://upload.wikimedia.org/wikipedia/commons/4/4d/Hair_follicle-en.svg ncithesaurus:Hair_Follicle uberon Wikipedia:Hair_follicle a tube-like opening in the epidermis where the hair shaft develops and into which the sebaceous glands open[GO]. VHOG:0001268 Wikipedia:Hair_follicle folliculus pili FMA 2012-09-17 ISBN:978-4431998051 Morioka K, Hair follicle: differentiation under the electron microscope, An atlas (2005) p.3 The earliest reliable record of hair is found in a fossil of the Paleocene period, in which the structure of hair cuticles is preserved. Its appearance suggests that the complicated structure of the hair follicle, closely similar to that of present-day mammals, had already appeared at this time.[well established][VHOG] VHOG VHOG:0001268 http://bgee.unil.ch/ cardiac atrium AAO:0010246 BTO:0000903 CALOHA:TS-0437 Cardiac atria Cardiac chamber which consists of a wall that surrounds the cavity of an atrium.[FMA] EFO:0000277 EHDAA2:0000154 EHDAA:1265 EMAPA:16688 EV:0100019 FMA:7099 GAID:555 In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...).[well established][VHOG] MA:0000073 MAT:0000496 MESH:A07.541.358 One of four heart chambers.[TAO] One of two chambers of the heart which receive blood from the veins and forces it by muscular contration to the ventricle.[AAO] SCTID:261405004 TAO:0000471 This class was created automatically from a combination of ontologies UBERON:0002081 UMLS:C0018792 VHOG:0000175 Wikipedia:Heart_atrium ZFA:0000471 atria atrial tissue atrium atrium of heart cardiac atria galen:Atrium heart atrium ncithesaurus:Cardiac_Atrium uberon VHOG:0000175 Cardiac chamber which consists of a wall that surrounds the cavity of an atrium.[FMA] FMA:FMA Wikipedia:Heart_atrium BTO:0000903 atrial tissue Cardiac atria atria 2012-09-17 ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.428 In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...).[well established][VHOG] VHOG VHOG:0000175 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010246 AAO:BJB One of two chambers of the heart which receive blood from the veins and forces it by muscular contration to the ventricle.[AAO] cardiac atria ZFA:0000471 atrium 2012-08-14 One of four heart chambers.[TAO] TAO TAO:0000471 ZFIN:curator cardiac ventricle A chamber of the heart that receives blood from one or more atria and pumps it by muscular contraction into the arteries.[AAO] AAO:0010249 BTO:0000862 CALOHA:TS-0444 Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle. EFO:0000317 EHDAA2:0004164 EHDAA:1912 EMAPA:17331 EV:0100020 FMA:7100 GAID:568 In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...)[well established][VHOG] MA:0000091 MAT:0000497 MESH:A07.541.560 One of four heart chambers.[TAO] OpenCyc:Mx4rvVjj1pwpEbGdrcN5Y29ycA SCTID:277699000 TAO:0000009 UBERON:0002082 UMLS:C0018827 VHOG:0000435 XAO:0003193 ZFA:0000009 galen:Ventricle heart ventricle lower chamber of heart ncithesaurus:Cardiac_Ventricle uberon ventricle ventricle of heart Cardiac chamber which consists of a wall that surrounds the cavity of a ventricle. FMA:7100 2012-09-17 ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.428 In the primitive vertebrate heart the four chambers are: 1. Sinus venosus (...) 2. Atrium (...) 3. Ventricle (...) 4. Conus arteriosus (...)[well established][VHOG] VHOG VHOG:0000435 http://bgee.unil.ch/ 2012-08-14 One of four heart chambers.[TAO] TAO TAO:0000009 ZFIN:curator VHOG:0000435 2012-06-20 A chamber of the heart that receives blood from one or more atria and pumps it by muscular contraction into the arteries.[AAO] AAO AAO:0010249 AAO:BJB postcranial axial skeleton AAO:0000034 EFO:0000942 EHDAA2:0000161 EHDAA:5049 EMAPA:17214 EMAPA:18043 FMA:71221 MA:0002986 MAT:0000148 MIAA:0000148 Skeletal subdivision of the central body axis including vertebrae, notochord, ribs, and sternum.[VSAO] TAO:0000317 The axial musculoskeletal system represents the plesiomorphic locomotor engine of the vertebrate body, playing a central role in locomotion. In craniates, the evolution of the postcranial skeleton is characterized by two major transformations. First, the axial skeleton became increasingly functionally and morphologically regionalized. Second, the axial-based locomotion plesiomorphic for craniates became progressively appendage-based with the evolution of extremities in tetrapods.[well established][VHOG] The axial skeleton is formed by the vertebral column, a metameric, semi-flexible, arched bar located in the dorsal part of the trunk, and is formed by a series of cartilaginous or bony vertebrae. It provides suspension for the appendicular skeleton and protection for the spinal nerve cord.[AAO] The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[TAO] The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. UBERON:0002090 VHOG:0000317 VSAO:0000093 XAO:0003073 ZFA:0000317 axial skeleton post-cranial axial skeleton previous some AOs had used the term 'axial skeleton' to include the skull. This is being resolved (see tracker items above). Status: MA - fixed. uberon The post-cranial subdivision of skeleton structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins; in human consists of the bones of the vertebral column, the thoracic cage and the pelvis[ZFA+FMA]. ZFA:0000317 https://sourceforge.net/tracker/?func=detail&aid=2983975&group_id=76834&atid=974957 https://sourceforge.net/tracker/?func=detail&atid=1205376&aid=2983977&group_id=76834 2012-08-14 PSPUB:0000170 Skeletal subdivision of the central body axis including vertebrae, notochord, ribs, and sternum.[VSAO] VSAO VSAO:0000093 2012-08-14 TAO TAO:0000317 The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[TAO] ZFIN:curator 2012-06-20 AAO AAO:0000034 AAO:LAP The axial skeleton is formed by the vertebral column, a metameric, semi-flexible, arched bar located in the dorsal part of the trunk, and is formed by a series of cartilaginous or bony vertebrae. It provides suspension for the appendicular skeleton and protection for the spinal nerve cord.[AAO] FMA:71221 UBERONREF:0000008 axial skeleton VHOG:0000317 2012-09-17 DOI:10.1186/1742-9994-8-4 Schilling N, Evolution of the axial system in craniates: morphology and function of the perivertebral musculature. Frontiers in Zoology (2011) The axial musculoskeletal system represents the plesiomorphic locomotor engine of the vertebrate body, playing a central role in locomotion. In craniates, the evolution of the postcranial skeleton is characterized by two major transformations. First, the axial skeleton became increasingly functionally and morphologically regionalized. Second, the axial-based locomotion plesiomorphic for craniates became progressively appendage-based with the evolution of extremities in tetrapods.[well established][VHOG] VHOG VHOG:0000317 http://bgee.unil.ch/ appendicular skeleton AAO:0000747 EFO:0000951 FMA:71222 MA:0000290 MAT:0000278 MIAA:0000278 Note that ontologies differ in whether they treat the term appendicular skeleton as being the entire set of bones in the limbs, or whether the fore and hind limbs/fins are treated as seperate appendicular skeletons. Here we follow FMA, and treat the appendicular skeleton as the sum total of skeletal elements in the organism (this is evidenced by the fact that in FMA, skeleton of left/right upper/lower limb is part_of a appendicular skeleton, and subtypes of 'subdivision of appendicular skeleton'). We have separate classes such as 'skeleton of limb', and 'skeleton of hindlimb' for the 4 parts of the appendicular skeleton. In future the ZFA/TAO classes may be moved. SCTID:322050006 Skeletal subdivision consisting of all the skeletal elements in the pectoral and pelvic appendage complexes.[VSAO] Skeletal system that consists of the paired fins (pectoral or pelvic fins).[TAO] Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. The pectoral and pelvic girdles, which articulate with the axial skeleton, together with their associated limbs, the forelimbs and hind limbs, form the appendicular skeleton.[AAO] UBERON:0002091 UMLS:C0222646 VHOG:0001666 VSAO:0000076 Wikipedia:Appendicular_skeleton XAO:0003166 appendicular skeleton entire appendicular skeleton http://upload.wikimedia.org/wikipedia/commons/7/7c/Appendicular_skeleton_diagram.svg ncithesaurus:Appendicular_Skeleton paired fin skeleton skeleton appendiculare uberon 2012-06-20 AAO AAO:0000747 AAO:LAP The pectoral and pelvic girdles, which articulate with the axial skeleton, together with their associated limbs, the forelimbs and hind limbs, form the appendicular skeleton.[AAO] paired fin skeleton VHOG:0001666 Wikipedia:Appendicular_skeleton skeleton appendiculare entire appendicular skeleton http://purl.obolibrary.org/obo/uberon/tracker/59 2012-08-14 PSPUB:0000170 Skeletal subdivision consisting of all the skeletal elements in the pectoral and pelvic appendage complexes.[VSAO] VSAO VSAO:0000076 https://orcid.org/0000-0002-6601-2165 Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]. UBERONREF:0000003 Wikipedia:Appendicular_skeleton https://orcid.org/0000-0002-6601-2165 2012-08-14 Skeletal system that consists of the paired fins (pectoral or pelvic fins).[TAO] TAO TAO:0000027 TAO:wd interventricular septum BTO:0002483 Cardiac septum which separates the right ventricle from the left ventricle.[FMA] EFO:0001956 EHDAA2:0000885 EHDAA:2603 EMAPA:17333 FMA:7133 MA:0000085 OpenCyc:Mx4rwA7lp5wpEbGdrcN5Y29ycA SCTID:362019005 The partition separating the right and left ventricles of the heart. [TFD][VHOG] The two most progressive vertebrate classes, the birds and mammals, have completed the ventricular septum and at long last have completely separated the two blood streams along the length of the major heart chambers. This development has obviously been brought about independently in the two cases, since mammals and birds have evolved independently from primitive reptiles.[well established][VHOG] This class was created automatically from a combination of ontologies UBERON:0002094 UMLS:C0225870 VHOG:0000386 Wikipedia:Interventricular_septum galen:InterventricularSeptum heart interventricular septum heart ventricular septum http://upload.wikimedia.org/wikipedia/commons/9/96/Gray498.png http://upload.wikimedia.org/wikipedia/commons/thumb/9/96/Gray498.png/200px-Gray498.png interventricular septum of heart interventriculare cordis ncithesaurus:Interventricular_Septum s. interventriculare cordis uberon ventricle septum ventricular septum MA:0000085 heart ventricular septum MA:0000085 ventricular septum 2012-09-17 The partition separating the right and left ventricles of the heart. [TFD][VHOG] VHOG VHOG:0000386 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/interventricular+septum VHOG:0000386 Cardiac septum which separates the right ventricle from the left ventricle.[FMA] FMA:FMA Wikipedia:Interventricular_septum BTO:0002483 interventriculare cordis Wikipedia:Interventricular_septum s. interventriculare cordis MA:0000085 heart interventricular septum BTO:0002483 interventricular septum of heart 2012-09-17 ISBN:978-0721676678 Romer AS, Vertebrate body (1970) p.430 The two most progressive vertebrate classes, the birds and mammals, have completed the ventricular septum and at long last have completely separated the two blood streams along the length of the major heart chambers. This development has obviously been brought about independently in the two cases, since mammals and birds have evolved independently from primitive reptiles.[well established][VHOG] VHOG VHOG:0000386 http://bgee.unil.ch/ skin of body BTO:0001253 CALOHA:TS-0934 EFO:0000962 EHDAA2:0001844 EMAPA:17525 FMA:7163 MESH:A17.815 Nonparenchymatous organ that consists of the dermis and epidermis. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin[FMA]. Surface structure that consists of the external membranous integument of the animal. Note that FMA uses 'skin' for the entire organ. XAO seems consistent. MA seems to use it analagously to zone of skin OpenCyc:Mx4rvVjX3ZwpEbGdrcN5Y29ycA SCTID:181469002 UBERON:0002097 UMLS:C1123023 Wikipedia:Skin XAO:0000023 entire skin galen:Skin http://upload.wikimedia.org/wikipedia/commons/thumb/6/6d/Skin.svg/200px-Skin.svg.png integument ncithesaurus:Skin pelt skin uberon FMA:7163 Nonparenchymatous organ that consists of the dermis and epidermis. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin[FMA]. Surface structure that consists of the external membranous integument of the animal. OMD:skin Wikipedia:Skin trunk AAO:0010339 BILA:0000116 BTO:0001493 CALOHA:TS-1071 EFO:0000966 FMA:7181 MA:0000004 MAT:0000296 MIAA:0000296 OpenCyc:Mx4rvVkJjpwpEbGdrcN5Y29ycA Organism subdivision that is the part of the body posterior to the head and anterior to the tail.[AAO] Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[TAO] Rumpf SCTID:262225004 TAO:0001115 UBERON:0002100 UMLS:C0460005 Wikipedia:Torso XAO:0000054 XAO:0003025 ZFA:0001115 editor note - check AAO galen:Trunk ncithesaurus:Trunk thoracolumbar region torso trunk region uberon 2012-06-20 AAO AAO:0010339 AAO:BJB Organism subdivision that is the part of the body posterior to the head and anterior to the tail.[AAO] 2012-08-14 Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[TAO] TAO TAO:0001115 ZFIN:curator Organism subdivision which is the part of the body posterior to the cervical region (or head, when cervical region not present) and anterior to the caudal region. Includes the sacrum when present. TAO:0001115 UBERONREF:0000006 Wikipedia:Torso XAO:0000054 trunk region BTO:0001493 Rumpf limb A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. AAO:0010336 AEO:0000172 CALOHA:TS-0552 EFO:0000876 EHDAA2:0003172 EHDAA:1697 EHDAA:8273 EMAPA:16405 FMA:24875 GAID:36 MA:0000007 MAT:0000090 MIAA:0000090 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] OpenCyc:Mx4rvn1uSZwpEbGdrcN5Y29ycA Organism subdivision that has as its parts the jointed appendages used for locomotion and manipulation.[AAO] SCTID:243996003 UBERON:0002101 UMLS:C0015385 VHOG:0000336 VSAO:0000121 Wikipedia:Limb XAO:0003027 extremities extremity flipper free limb galen:Extremity limb sensu vertebrata ncithesaurus:Limb pentadactyl limb tetrapod limb uberon MAT:0000090 limb sensu vertebrata 2012-09-17 ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] VHOG VHOG:0000336 http://bgee.unil.ch/ extremities A paired appendage that is evolved from a paired fin. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the girdle and its parts. UBERONREF:0000003 2012-06-20 AAO AAO:0010336 AAO:BJB Organism subdivision that has as its parts the jointed appendages used for locomotion and manipulation.[AAO] FMA:24875 free limb VHOG:0000336 flipper forelimb A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts. AAO:0000205 AO notes: note that this corresponds to FMA:'free upper limb' (a limb segment), NOT FMA:'upper limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb. Usage notes: Note distinction between arm and forelimb. hand is part of forelimb, but not part of arm BTO:0001729 CALOHA:TS-2214 EFO:0000882 EHDAA2:0002133 EHDAA:6208 EMAPA:17412 EV:0100014 FMA:24878 GAID:1215 GAID:51 MA:0000025 MAT:0000394 MESH:A13.395 MIAA:0000394 SCTID:182245002 UBERON:0002102 UMLS:C1140618 Upper limb, which connects the manus with the pectoral girdle.[AAO] VHOG:0000338 VSAO:0000148 Wikipedia:Forelimb XAO:0003030 anteriormost limb fore limb foreleg forelimb free part of upper limb free upper limb galen:UpperExtremity membrum superius ncithesaurus:Upper_Extremity pectoral flipper pectoral limb superior member uberon upper extremity upper limb pectoral flipper FMA:7183 FMA:TA membrum superius FMA:24878 free part of upper limb FMA:24878 UBERONREF:0000003 free upper limb VHOG:0000338 2012-06-20 AAO AAO:0000205 AAO:LAP Upper limb, which connects the manus with the pectoral girdle.[AAO] A (free) limb that is connected to a pectoral girdle. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pectoral girdle and its parts. UBERONREF:0000003 hindlimb A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts. AAO:0000219 AO notes: note that this corresponds to FMA:'free lower limb' (a limb segment), NOT 'lower limb'. Both MA and FMA consider shoulder (and shoulder bones) part of upper limb. Note that AAO class probably refers to skeleton BTO:0002345 CALOHA:TS-2215 EFO:0000883 EHDAA2:0001033 EHDAA:6094 EMAPA:17458 EV:0100015 FMA:24879 GAID:1221 GAID:38 Lower limb, which connects the pes with the pelvic girdle.[AAO] MA:0000026 MAT:0000395 MESH:A13.473 MIAA:0000395 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] SCTID:182281004 UBERON:0002103 UMLS:C0023216 UMLS:C1522391 VHOG:0000337 VSAO:0000150 Wikipedia:Hindlimb XAO:0003031 crural free lower limb free part of lower limb galen:LowerExtremity hind limb hind-limb hindlimb http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray1239.png http://upload.wikimedia.org/wikipedia/commons/thumb/d/dc/Gray1239.png/200px-Gray1239.png inferior member lower extremity lower limb membrum inferius ncithesaurus:Hind_Limb ncithesaurus:Lower_Extremity pelvic appendage uberon FMA:24879 free part of lower limb A (free) limb that is connected to a pelvic girdle region. The extent of this structure includes autopod, stylopod and zeugopod regions when present, but excludes the pelvic girdle and its parts. UBERONREF:0000003 Wikipedia:Hindlimb Wikipedia:Lower_limb FMA:24879 UBERONREF:0000003 free lower limb 2012-06-20 AAO AAO:0000219 AAO:LAP Lower limb, which connects the pes with the pelvic girdle.[AAO] FMA:7184 FMA:TA membrum inferius VSAO:0000150 hind-limb Wikipedia:Lower_limb membrum inferius 2012-09-17 ISBN:978-0198540472 Janvier P, Early vertebrates (1996) p.268 Most anatomists now agree that the three proximal bones of the tetrapod limbs are homologous to the two or three proximal elements of the paired fin skeleton of other sarcopterygians, that is the humerus-femur, radius-tibia, and ulna-fibula.[well established][VHOG] VHOG VHOG:0000337 http://bgee.unil.ch/ VHOG:0000337 spleen AAO:0010395 An organ involved in red blood cell filtration and immune response.[AAO] BTO:0001281 CALOHA:TS-0956 EFO:0000869 EMAPA:18767 EV:0100055 FMA:7196 GAID:1289 MA:0000141 MAT:0000085 MESH:A15.382.520.604.713 MIAA:0000085 OpenCyc:Mx4rvVjgw5wpEbGdrcN5Y29ycA Organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron. It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells. SCTID:181279003 TAO:0000436 Taxon notes: Neither hagfish nor lampreys possess what might be considered a discrete and condensed spleen. Hagfish possess dispersed lymphoid tissue within the submucosa of the intestine (96) associated with the portal vein (97), whereas lymphoid tissue is associated with the typhlosole portion of the intestine in lampreys (96) [PMID:20959416] UBERON:0002106 UMLS:C0037993 VHOG:0000120 Wikipedia:Spleen With the advent of clonal selection, the accumulation and segregation of T and B cells in specialized organs for antigen presentation became necessary, and indeed the spleen is found in all jawed vertebrates, but not in agnathans or invertebrates.[well established][VHOG] XAO:0000328 ZFA:0000436 galen:Spleen http://upload.wikimedia.org/wikipedia/commons/d/d6/Illu_spleen.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Illu_spleen.jpg/200px-Illu_spleen.jpg lien lienal ncithesaurus:Spleen splenic uberon Organ found in virtually all vertebrate animals with important roles in regard to red blood cells and the immune system. In humans, it is located in the left upper quadrant of the abdomen. It removes old red blood cells and holds a reserve in case of hemorrhagic shock, especially in animals like horses (not in humans), while recycling iron. It synthesizes antibodies in its white pulp and removes, from blood and lymph node circulation, antibody-coated bacteria along with antibody-coated blood cells. Wikipedia:Spleen VHOG:0000120 Wikipedia:Spleen lien 2012-09-17 ISBN:978-0781765190 Paul WE, Fundamental Immunology (2008) p.94 VHOG VHOG:0000120 With the advent of clonal selection, the accumulation and segregation of T and B cells in specialized organs for antigen presentation became necessary, and indeed the spleen is found in all jawed vertebrates, but not in agnathans or invertebrates.[well established][VHOG] http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010395 AAO:BMZ An organ involved in red blood cell filtration and immune response.[AAO] liver AAO:0010111 AO notes: Only ZFA considers this part_of immune system - we weaken this to an overlaps relation, as in general it's only a subset of cells that have clear immune function. Taxon notes: WP: The liver is found in all vertebrates, and is typically the largest visceral organ. Its form varies considerably in different species, and is largely determined by the shape and arrangement of the surrounding organs. Nonetheless, in most species it is divided into right and left lobes; exceptions to this general rule include snakes, where the shape of the body necessitates a simple cigar-like form. The internal structure of the liver is broadly similar in all vertebrates.[7] An organ sometimes referred to as a liver is found associated with the digestive tract of the primitive chordate Amphioxus. However, this is an enzyme secreting gland, not a metabolic organ, and it is unclear how truly homologous it is to the vertebrate liver. // The zebrafish liver differs from the mammalian liver in that the hepatocytes are not clearly organized in cords or lobules and the typical portal triads are not apparent. In addition, the zebrafish liver does not have Kuppfer cells. Furthermore, a clear distinction can be made between the male and female liver in the adult zebrafish. The female hepatocytes are very basophilic (Figure 15c) as a result of the production of vitellogenin (Van der Ven et al. 2003). All vertebrates possess a liver (reference 1); Later in craniate evolution, an anterior gill arch was transformed into jaws, and many new types of feeding subsequently evolved.(...) A liver evolved that, among its many functions, stores considerable energy as glycogen or lipid (reference 2).[well established][VHOG] An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. BTO:0000759 CALOHA:TS-0564 EFO:0000887 EHDAA2:0000997 EHDAA:2197 EMAPA:16846 EV:0100089 FMA:7197 GAID:288 MA:0000358 MAT:0000097 MESH:A03.620 MIAA:0000097 OpenCyc:Mx4rvVimppwpEbGdrcN5Y29ycA Organ which secretes bile and participates in formation of certain blood proteins.[AAO] SCTID:181268008 TAO:0000123 UBERON:0002107 UMLS:C0023884 VHOG:0000257 Wikipedia:Liver XAO:0000133 ZFA:0000123 galen:Liver hepatic http://upload.wikimedia.org/wikipedia/commons/6/64/Leber_Schaf.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/6/64/Leber_Schaf.jpg/200px-Leber_Schaf.jpg iecur jecur ncithesaurus:Liver relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO] uberon An exocrine gland which secretes bile and functions in metabolism of protein and carbohydrate and fat, synthesizes substances involved in the clotting of the blood, synthesizes vitamin A, detoxifies poisonous substances, stores glycogen, and breaks down worn-out erythrocytes[GO]. BTO:0000759 Wikipedia:Liver 2012-06-20 AAO AAO:0010111 relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO] ZFA VHOG:0000257 FMA Wikipedia:Liver iecur ZFA definitional Wikipedia:Liver jecur EHDAA2 2012-09-17 All vertebrates possess a liver (reference 1); Later in craniate evolution, an anterior gill arch was transformed into jaws, and many new types of feeding subsequently evolved.(...) A liver evolved that, among its many functions, stores considerable energy as glycogen or lipid (reference 2).[well established][VHOG] ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.526, ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000257 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010111 AAO:BJB Organ which secretes bile and participates in formation of certain blood proteins.[AAO] small intestine AAO:0010397 BTO:0000651 CALOHA:TS-0942 EFO:0000841 EV:0100072 FMA:7200 GAID:313 Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG] MA:0000337 MAT:0000047 MESH:A03.492.411.620 MIAA:0000047 OpenCyc:Mx4rvVjlIJwpEbGdrcN5Y29ycA SCTID:181250005 Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. TAO:0001323 The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity. Wallace et al, 2005.[TAO] UBERON:0002108 UMLS:C0021852 VHOG:0000055 Wikipedia:Small_intestine XAO:0000130 ZFA:0001323 anterior intestine galen:SmallIntestine http://upload.wikimedia.org/wikipedia/commons/8/82/Stomach_colon_rectum_diagram.svg http://upload.wikimedia.org/wikipedia/commons/thumb/8/82/Stomach_colon_rectum_diagram.svg/200px-Stomach_colon_rectum_diagram.svg.png intestinum tenue mid intestine ncithesaurus:Small_Intestine small bowel small intestine uberon Wikipedia:Small_intestine intestinum tenue VHOG:0000055 Subdivision of digestive tract that connects the stomach to the large intestine and is where much of the digestion and absorption of food takes place (with the exception of ruminants). The mammalian small intestine is long and coiled and can be differentiated histologically into: duodenum, jejunem, ileum[WP,cjm,Kardong]. Wikipedia:Small_intestine 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.566 Intestinal surface area also is increased in amphibians and reptiles by internal folds and occasionally by a few villi. The intestine can be divided into a small intestine and a slightly wider large intestine.[well established][VHOG] VHOG VHOG:0000055 http://bgee.unil.ch/ BTO:0000651 intestinum tenue 2012-08-14 TAO TAO:0001323 The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity. Wallace et al, 2005.[TAO] ZFIN:curator gallbladder AAO:0010114 BTO:0000493 CALOHA:TS-0394 EFO:0000853 EHDAA2:0000699 EHDAA:8062 EMAPA:17202 EV:0100090 FMA:7202 MA:0000356 MAT:0000072 MESH:A03.159.439 MIAA:0000072 Membranous muscular sac in which the bile from the liver remains stored until it is required. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] OpenCyc:Mx4rvVkGr5wpEbGdrcN5Y29ycA Organ attached to the liver which stores bile and empties into the duodenum via the bile duct as needed for digestion.[AAO] Rats do not have a gallbladder, but produce bile. The bile flows directly from the liver through the (hepatic) bile duct into the small intestine (Hebel and Stromberg, 1988) SCTID:181269000 TAO:0000208 The presence of a gallbladder appears to be a primitive trait. It is found in most fish and all adult reptiles and amphibians and has been well conserved in mammals, for the most part.[well established][VHOG] UBERON:0002110 UMLS:C0016976 VHOG:0000221 Wikipedia:Gallbladder XAO:0000135 ZFA:0000208 a small organ that aids digestion and stores bile produced by the liver[WP]. Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder[FMA]. galen:Gallbladder gall bladder http://upload.wikimedia.org/wikipedia/commons/3/3f/Illu_pancrease.svg http://upload.wikimedia.org/wikipedia/commons/thumb/f/f4/Abdomal_organs.svg/200px-Abdomal_organs.svg.png ncithesaurus:Gallbladder relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO] uberon vesica fellea; vesica biliaris Wikipedia:Gallbladder vesica fellea; vesica biliaris 2012-06-20 AAO AAO:0010114 relationship type change: differentiates_from endoderm (AAO:0000139) CHANGED TO: develops_from endoderm (UBERON:0000925)[AAO] 2012-09-17 Membranous muscular sac in which the bile from the liver remains stored until it is required. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000221 http://bgee.unil.ch/ VHOG:0000221 ISBN:9780120749034 2012-06-20 AAO AAO:0010114 AAO:BJB Organ attached to the liver which stores bile and empties into the duodenum via the bile duct as needed for digestion.[AAO] FMA:7202 Wikipedia:Gallbladder a small organ that aids digestion and stores bile produced by the liver[WP]. Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder[FMA]. 2012-09-17 DOI:10.1002/(SICI)1097-0029(19970915)38:6<571::AID-JEMT3>3.0.CO;2-I Oldham-Ott CK, Gilloteaux J, Comparative morphology of the gallbladder and biliary tract in vertebrates: Variation in structure, homology in function and gallstones. Microscopy research and technique (1997) The presence of a gallbladder appears to be a primitive trait. It is found in most fish and all adult reptiles and amphibians and has been well conserved in mammals, for the most part.[well established][VHOG] VHOG VHOG:0000221 http://bgee.unil.ch/ kidney A paired organ which has the production of urine as its primary function. AAO:0000250 BTO:0000671 CALOHA:TS-0510 EFO:0000929 EV:0100096 FMA:7203 GAID:423 MA:0000368 MAT:0000119 MESH:A05.810.453 MIAA:0000119 One of either of a pair of structures lying on either side of the dorsal aorta in which fluid balance is regulated and waste is excreted out in the form of urine.[AAO] OpenCyc:Mx4rvVjlYpwpEbGdrcN5Y29ycA SCTID:181414000 UBERON:0002113 UMLS:C0022646 Wikipedia:Kidney XAO:0003267 galen:Kidney ncithesaurus:Kidney renal reniculate kidney uberon 2012-06-20 AAO AAO:0000250 AAO:BJB One of either of a pair of structures lying on either side of the dorsal aorta in which fluid balance is regulated and waste is excreted out in the form of urine.[AAO] A paired organ which has the production of urine as its primary function. Wikipedia:Kidney Wikipedia:Reniculate_kidney reniculate kidney duodenum AAO:0010402 BTO:0000365 CALOHA:TS-0214 EFO:0000851 EMAPA:18852 EV:0100073 FMA:7206 GAID:284 In fish, the divisions of the small intestine are not as clear, and the terms anterior intestine or proximal intestine may be used instead of duodenum. In humans, the duodenum is a hollow jointed tube about 10–15 inches (25–38 centimetres) long connecting the stomach to the jejunum. It begins with the duodenal bulb and ends at the ligament of Treitz. MA:0000338 MAT:0000044 MESH:A03.492.411.620.270 MIAA:0000044 OpenCyc:Mx4rv4LJDpwpEbGdrcN5Y29ycA SCTID:181247007 The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). The fixed portion of the small intestine deeply lodged in the posterior wall of the abdomen and extending from the pylorus to the beginning of the jejunum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] UBERON:0002114 UMLS:C0013303 VHOG:0000052 Wikipedia:Duodenum XAO:0000236 duodenal galen:Duodenum http://upload.wikimedia.org/wikipedia/commons/b/b3/Tractus_intestinalis_duodenum.svg ncithesaurus:Duodenum proximal intestine uberon upper intestine 2012-09-17 The fixed portion of the small intestine deeply lodged in the posterior wall of the abdomen and extending from the pylorus to the beginning of the jejunum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000052 http://bgee.unil.ch/ In fish, the divisions of the small intestine are not as clear, and the terms anterior intestine or proximal intestine may be used instead of duodenum. NCBITaxon:32443 http://en.wikipedia.org/wiki/Duodenum In humans, the duodenum is a hollow jointed tube about 10–15 inches (25–38 centimetres) long connecting the stomach to the jejunum. It begins with the duodenal bulb and ends at the ligament of Treitz. NCBITaxon:9606 http://en.wikipedia.org/wiki/Duodenum VHOG:0000052 ISBN:0815318960 The first part of the small intestine. At the junction of the stomach and the duodenum the alimentary canal is inflected. The duodenum first goes anteriorly for a short distance, turns dorsally, and eventually caudally, thus it is a U-shaped structure with two horizontal sections (a ventral and a dorsal one). Wikipedia:Duodenum BTO:0000365 proximal intestine ZFA:0000348 BTO:0000365 upper intestine jejunum BTO:0000657 CALOHA:TS-0496 EFO:0001333 EMAPA:18666 EMAPA:18932 EV:0100074 FMA:7207 GAID:318 MA:0000340 MAT:0000045 MESH:A03.492.411.620.625 MIAA:0000045 OpenCyc:Mx4rwATkPJwpEbGdrcN5Y29ycA SCTID:181248002 TODO consider ZFA:0001323 mid intestine, see also small intestine The first two fifth of the small intestine beyond the duodenum. It extends from the end of the duodenum to the ileum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum. [WP,unvetted]. UBERON:0002115 UMLS:C0022378 VHOG:0000053 Wikipedia:Jejunum galen:Jejunum http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/3/3d/Illu_small_intestine.jpg/200px-Illu_small_intestine.jpg intestinum jejunum jejunal middle intestine ncithesaurus:Jejunum uberon VHOG:0000053 Wikipedia 2012-09-17 The first two fifth of the small intestine beyond the duodenum. It extends from the end of the duodenum to the ileum. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000053 http://bgee.unil.ch/ BTO:0000657 intestinum jejunum BTO:0000657 middle intestine The jejunum is the middle section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms middle intestine or mid-gut may be used instead of jejunum. [WP,unvetted]. Wikipedia:Jejunum ileum AAO:0010403 Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] BTO:0000620 CALOHA:TS-0472 EFO:0001334 EV:0100075 FMA:7208 GAID:315 MA:0000339 MAT:0000282 MESH:A03.492.411.620.484 MIAA:0000282 OpenCyc:Mx4rvdcLHZwpEbGdrcN5Y29ycA SCTID:181249005 TODO consider ZFA:0000706 posterior intestine, see also colon The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. [WP,unvetted]. UBERON:0002116 UMLS:C0020885 VHOG:0000647 Wikipedia:Ileum XAO:0000237 distal intestine galen:Ileum http://upload.wikimedia.org/wikipedia/commons/3/3d/Illu_small_intestine.jpg ileal intestinum ileum lower intestine ncithesaurus:Ileum uberon 2012-09-17 Although all vertebrates have a digestive tract and accessory glands, various parts of this system are not necessarily homologous, analogous, or even present in all species. Therefore, broad comparisons can be best made under the listings of headgut, foregut, midgut, pancreas and biliary system, hindgut.[uncertain][VHOG] ISBN:978-0521617147 Stevens CE and Hume ID, Comparative physiology of the vertebrate digestive system (2004) p.11 VHOG VHOG:0000647 http://bgee.unil.ch/ BTO:0000620 intestinum ileum The ileum is the final section of the small intestine in most higher vertebrates, including mammals, reptiles, and birds. In fish, the divisions of the small intestine are not as clear and the terms posterior intestine or distal intestine may be used instead of ileum. [WP,unvetted]. Wikipedia:Ileum BTO:0000620 lower intestine VHOG:0000647 BTO:0000620 distal intestine pronephros A kidney formed of nephric tubules arising in the anterior region of the nephric ridge; forms only as a transient embryonic structure. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.748][VHOG] AAO:0011089 BTO:0001541 EFO:0000927 EHDAA2:0001570 EHDAA:1017 EMAPA:16579 FMA:72170 In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. MAT:0000117 MIAA:0000117 Once the more complex mesonephros forms the pronephros undergoes apoptosis in amphibians. In fishes the nephron degenerates but the organ remains and becomes a component of the immune system[Wikipedia:Pronephros]. // TODO - check developmental relationships. Note that we previously include the ZFA/XAO terms under the more specific 'pronephric kidney', but these are now merged. TODO GCI: relationship: capable_of GO:0030104 Organ that serves as a transient kidney, providing osmoregulation during early developmental stages and then degenerating during metamorphosis.[AAO] SCTID:308804007 TAO:0000151 The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[TAO] UBERON:0002120 UBERON:0005794 UMLS:C0231048 VHOG:0000037 Wikipedia:Pronephros XAO:0002000 ZFA:0000151 archinephron embryonic kidney ncithesaurus:Pronephros pronephric pronephric kidney pronephron uberon 2012-06-20 AAO AAO:0011089 Organ that serves as a transient kidney, providing osmoregulation during early developmental stages and then degenerating during metamorphosis.[AAO] XAO:curator BTO:0001541 archinephron BTO:0001541 embryonic kidney 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.637 In all vertebrate embryos, the kidney begins with the differentiation of a few renal tubules from the anterior end of the nephric ridge overlying the pericardial cavity. (...) This early-developing embryonic kidney is called the pronephros.[well established][VHOG] VHOG VHOG:0000037 http://bgee.unil.ch/ XAO:0002000 pronephric kidney GO BTO:0001541 pronephron 2012-08-14 TAO TAO:0000151 The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[TAO] ZFIN:curator ZFA 2012-09-17 A kidney formed of nephric tubules arising in the anterior region of the nephric ridge; forms only as a transient embryonic structure. [Evolution, Fourth_Edition_(2006)_McGraw-Hill, Function, Kardong_KV, Vertebrates:_Comparative_Anatomy, p.748][VHOG] VHOG VHOG:0000037 http://bgee.unil.ch/ VHOG:0000037 GO:0048793 In mammals, the pronephros is the first of the three embryonic kidneys to be established and exists only transiently. In lower vertebrates such as fish and amphibia, the pronephros is the fully functional embryonic kidney and is indispensible for larval life[GO]. Wikipedia:Pronephros medulla of thymus BTO:0004560 EFO:0001969 FMA:72206 MA:0000771 Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size. SCTID:188344009 This class was created automatically from a combination of ontologies UBERON:0002124 UMLS:C0229949 Wikipedia:Thymus#Medulla medulla of thymus gland ncithesaurus:Thymus_Medulla thymus gland medulla thymus medulla uberon OBOL:automatic medulla of thymus gland Medullary portion of thymus. The reticulum is coarser than in the cortex, the lymphoid cells are relatively fewer in number, and there are found peculiar nest-like bodies, the concentric corpuscles of Hassall. These concentric corpuscles are composed of a central mass, consisting of one or more granular cells, and of a capsule formed of epithelioid cells. They are the remains of the epithelial tubes, which grow out from the third branchial pouches of the embryo to form the thymus. Each follicle is surrounded by a vascular plexus, from which vessels pass into the interior, and radiate from the periphery toward the center, forming a second zone just within the margin of the medullary portion. In the center of the medullary portion there are very few vessels, and they are of minute size. Wikipedia:Thymus#Medulla OBOL:automatic thymus gland medulla doi:10.1177/0192623311409597 mitral valve A valve of the heart, composed of two triangular flaps, that is located between the left atrium and left ventricle and regulates blood flow between these chambers. [TFD][VHOG] AO notes: FMA part_ofs changed to connects Atrioventricular valve which has as its parts the anterior and posterior leaflets, attached to the fibrous ring of mitral valve.[FMA] EFO:0003933 EHDAA2:0000168 EMAPA:17871 FMA:7235 GAID:565 MA:0000088 MESH:A07.541.510.507 OpenCyc:Mx4rv4l2nJwpEbGdrcN5Y29ycA SCTID:181286006 The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[well established][VHOG] UBERON:0002135 UMLS:C0026264 VHOG:0000817 Wikipedia:Mitral_valve bicuspid valve galen:MitralValve http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg http://upload.wikimedia.org/wikipedia/commons/thumb/2/20/Diagram_of_the_human_heart_%28cropped%29.svg/200px-Diagram_of_the_human_heart_%28cropped%29.svg.png left atrioventricular valve ncithesaurus:Mitral_Valve uberon valva atrioventricularis sinistra valva mitralis 2012-09-17 A valve of the heart, composed of two triangular flaps, that is located between the left atrium and left ventricle and regulates blood flow between these chambers. [TFD][VHOG] VHOG VHOG:0000817 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/mitral+valve Atrioventricular valve which has as its parts the anterior and posterior leaflets, attached to the fibrous ring of mitral valve.[FMA] FMA:FMA Wikipedia:Mitral_valve Wikipedia:Mitral_valve valva mitralis 2012-09-17 DOI:10.1161/CIRCRESAHA.109.201566 Combs MD, Yutzey KE, Heart valve development. Circulatory Research (2009) The mature AV (atrioventricular) valve of the adult zebrafish 2-chambered heart is structurally similar to the mammalian AV valves with stratified ECM (extracellular matrix) and supporting chordae tendineae. Therefore, the major cellular and molecular events of valve development are largely conserved among animals with hearts composed of multiple chambers.[well established][VHOG] VHOG VHOG:0000817 http://bgee.unil.ch/ VHOG:0000817 FMA:7235 FMA:TA valva atrioventricularis sinistra aortic valve BTO:0004628 Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] EFO:0003879 EHDAA2:0000134 EHDAA:4410 EMAPA:17870 FMA:7236 GAID:563 Human variation: It is normally tricuspid (with three leaflets), although in 1% of the population it is found to be congenitally bicuspid (two leaflets) MA:0000087 MESH:A07.541.510.110 OpenCyc:Mx4rv5914JwpEbGdrcN5Y29ycA SCTID:181287002 The valve between the left ventricle of the heart and the ascending aorta, consisting of three semilunar cusps. [TFD][VHOG] UBERON:0002137 UMLS:C0003501 VHOG:0000815 Wikipedia:Aortic_valve galen:AorticValve http://upload.wikimedia.org/wikipedia/commons/2/20/Diagram_of_the_human_heart_%28cropped%29.svg ncithesaurus:Aortic_Valve uberon valva aortae Wikipedia:Aortic_valve valva aortae Cardiac valve which has as its parts the anterior, right posterior and left posterior cusps, attached to the fibrous ring of aortic valve.[FMA] FMA:FMA Wikipedia:Aortic_valve VHOG:0000815 2012-09-17 The valve between the left ventricle of the heart and the ascending aorta, consisting of three semilunar cusps. [TFD][VHOG] VHOG VHOG:0000815 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/aortic+valve locus ceruleus ABA:LC BM:Pons-LC BTO:0001408 EFO:0001963 FMA:72478 GAID:577 MA:0001017 MESH:A08.186.211.132.659.473 NIF_GrossAnatomy:birnlex_905 SCTID:369016004 TAO:0000539 TODO - check ZFA/pons. also GO says part of dorsorostral pons The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]. UBERON:0002148 UMLS:C0023951 Wikipedia:Locus_ceruleus ZFA:0000539 blue nucleus caerulean nucleus http://upload.wikimedia.org/wikipedia/commons/thumb/7/77/Gray709.png/200px-Gray709.png locus caeruleus locus cinereus locus coeruleu locus coeruleus ncithesaurus:Locus_Coeruleus nucleus caeruleus nucleus of locus caeruleus nucleus pigmentosus pontis substantia ferruginea uberon NIF_GrossAnatomy:birnlex_905 blue nucleus BTO:0001408 locus cinereus NIF_GrossAnatomy:birnlex_905 locus caeruleus NIF_GrossAnatomy:birnlex_905 substantia ferruginea NIF_GrossAnatomy:birnlex_905 nucleus pigmentosus pontis ABA FMA:72478 FMA:TA nucleus caeruleus ABA ABA GAID:577 GO:0021703 The locus ceruleus is a dense cluster of neurons within the dorsorostral pons. This nucleus is the major location of neurons that release norepinephrine throughout the brain, and is responsible for physiological responses to stress and panic[GO]. Bluish region in the superior angle of the fourth ventricle floor, corresponding to melanin-like pigmented nerve cells which lie lateral to the ponto-mesencephalic central gray (griseum centrale). It is also known as nucleus pigmentosus pontis[GAID]. Wikipedia:Locus_ceruleus ABA endocardium AAO:0010408 BTO:0000387 CALOHA:TS-2075 EFO:0000821 EHDAA2:0004153 EMAPA:17868 EV:0100021 FMA:7280 GAID:550 Layer that lines the lumen of the heart.[TAO] MA:0000076 MAT:0000455 MESH:A07.541.207 OpenCyc:Mx4rsWA75K1cEduAAADggVaqvw Part of the heart comprised of thin serous membrane, composed of endothelial tissue, that lines the interior of the heart.[AAO] SCTID:362013006 TAO:0001320 The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber[FMA]. UBERON:0002165 UBERON:0006225 UMLS:C0014124 VHOG:0000084 Wikipedia:Endocardium XAO:0000066 ZFA:0001320 endocardial tissue fixed in GO to reflect FMA. See email to David/Varsha June 18 2010 galen:Endocardium heart endocardial tissue heart endocardium http://upload.wikimedia.org/wikipedia/commons/6/6c/Gray493.png http://upload.wikimedia.org/wikipedia/commons/thumb/6/6c/Gray493.png/200px-Gray493.png ncithesaurus:Endocardium uberon VHOG:0000084 heart endocardial tissue FMA:7280 The endocardium is an anatomical structure comprised of an endothelium and an extracellular matrix that forms the innermost layer of tissue of the heart, and lines the heart chambers[GO]. Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber[FMA]. Wikipedia:Endocardium 2012-06-20 AAO AAO:0010408 AAO:BJB Part of the heart comprised of thin serous membrane, composed of endothelial tissue, that lines the interior of the heart.[AAO] VHOG:0000084 2012-08-14 Layer that lines the lumen of the heart.[TAO] TAO TAO:0001320 ZFIN:curator EMAPA:17868 endocardial tissue main bronchus EHDAA2:0001044 EHDAA:3072 EMAPA:16849 FMA:7405 In humans, histologically identical to trachea. MA:0000438 One of two branches of the trachea. OpenCyc:Mx4rvoIuvJwpEbGdrcN5Y29ycA SCTID:245508000 UBERON:0002182 UMLS:C0024496 VHOG:0000370 Wikipedia:Main_bronchus bronchus principalis extrapulmonary bronchus mainstem bronchus major bronchus ncithesaurus:Main_Bronchus primary bronchus principal bronchus proximal bronchus uberon FMA:7405 primary bronchus FMA:7405 bronchus principalis ISBN10:0123813611 extrapulmonary bronchus VHOG:0000370 One of two branches of the trachea. Wikipedia:Main_bronchus FMA:7405 principal bronchus bronchus A portion of the airway that connects to the lungs[GO]. BTO:0001340 CALOHA:TS-1229 EFO:0000932 EV:0100041 Each of the two primary divisions of the trachea leading respectively into the right and the left lung. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] FMA:7409 GAID:346 In humans, the main bronchus is histologically identical to trachea; 2ary and 3ary bronchi are not; epithelium becomes simple columnar, goblet cell number decreases, elastic fibers in lamina propria increases, distribution more uniform. Muscular layer between mucosa and submucosa appears. cartilage rings become discontinuous plates connected by fibrous connective tissue MA:0000436 MAT:0000133 MESH:A04.411.125 MIAA:0000133 SCTID:181215002 UBERON:0002185 UMLS:C0006255 VHOG:0000262 Wikipedia:Bronchus XAO:0000121 bronchi bronchial bronchial tissue bronchial trunk http://upload.wikimedia.org/wikipedia/commons/1/18/Respiratory_system_complete_numbered.svg http://upload.wikimedia.org/wikipedia/commons/thumb/1/18/Respiratory_system_complete_numbered.svg/200px-Respiratory_system_complete_numbered.svg.png ncithesaurus:Bronchus uberon BTO:0001340 bronchial tissue 2012-09-17 Each of the two primary divisions of the trachea leading respectively into the right and the left lung. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000262 http://bgee.unil.ch/ VHOG:0000262 bronchi A portion of the airway that connects to the lungs[GO]. Wikipedia:Bronchus Wikipedia FMA:7409 bronchial trunk adenohypophysis AAO:0010540 BM:AHy BTO:0000040 BTO:0000496 CALOHA:TS-0794 EFO:0000230 EHDAA2:0000109 EMAPA:17514 FMA:74627 It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] MA:0000177 MESH:A06.407.747.608 NIF_GrossAnatomy:birnlex_1581 Region of the pituitary gland derived from the buccal protrusion consisting of three regions.[AAO] SCTID:245532007 TAO:0001282 The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mamalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish. Herzog et al, 2004.[TAO] The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish[ZFA]. UBERON:0002196 UMLS:C0032008 VHOG:0000141 Wikipedia:Adenohypophysis ZFA:0001282 anterior hypophysis anterior lobe (hypophysis) anterior lobe of hypophysis anterior lobe of pituitary anterior lobe of pituitary gland anterior pituitary anterior pituitary gland http://upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Gray1181.png/200px-Gray1181.png lobus anterior (glandula pituitaria) lobus anterior hypophysis ncithesaurus:Anterior_Lobe_of_the_Pituitary_Gland note that BTO may contain an error here. Also note we may need to introduce taxon-specific developmental relationships: "While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke’s pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head"[NBK53175] pituitary gland, anterior lobe uberon 2012-06-20 AAO AAO:0010540 AAO:BJB Region of the pituitary gland derived from the buccal protrusion consisting of three regions.[AAO] BTO:0000040 anterior pituitary gland VHOG:0000141 ZFA:0001282 anterior hypophysis 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.510 and Figure 15-5 It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] VHOG VHOG:0000141 http://bgee.unil.ch/ FMA:74627 FMA:TA lobus anterior (glandula pituitaria) 2012-08-14 TAO TAO:0001282 The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mamalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish. Herzog et al, 2004.[TAO] ZFIN:curator NBK53175 ZFA FMA:74627 FMA:TA lobus anterior hypophysis The glandular, anterior lobe of the pituitary gland. The anterior pituitary regulates several physiological processes including stress, growth, and reproduction[WP]. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish[ZFA]. Wikipedia:Adenohypophysis ZFIN:curator neurohypophysis Editor note - request magnocellular cell from CL. Request oxytocin secretion from GO. Notes: "The hypophysis or pituitary gland is derived, in part from an ectodermal outpocketing of the stomodeum (Rathke's Pouch) and in part from the floor of the diencephalon" [http://syllabus.med.unc.edu/courseware/embryo_images/] It (the hypophysis) develops embryonically in all vertebrates from two ectodermal evaginations that meet and unite. An infundibulum grows ventrally from the diencephalon of the brain, and Rathke's pouch extends dorsally from the roof of the developing mouth, or stomodaeum. The infundibulum remains connected to the floor of the diencephalon, which becomes the hypothalamus, and gives rise to the part of the gland known as the neurohypophysis. (...) Rathke's pouch loses its connection with the stomodaeum in most adult vertebrates and gives rise to the rest of the gland, the adenohypophysis. (...) A well-developed hypophyseal system with functional connections to the hypothalamus is unique to craniates.[well established][VHOG] The infundibular part of the pituitary gland consisting of two regions.[AAO] comprises the posterior lobe of the pituitary gland and is part of the endocrine system[WP]. http://upload.wikimedia.org/wikipedia/commons/thumb/b/b9/Pituitary_gland_representation.PNG/200px-Pituitary_gland_representation.PNG AAO:0010537 BM:NY BTO:0000937 CALOHA:TS-0815 EHDAA2:0001271 EHDAA:7536 EMAPA:17519 FMA:74628 MA:0000178 MESH:A06.407.747.734 NHP NIF_GrossAnatomy:birnlex_1586 NeuroNames:401 SCTID:245527006 TAO:0001271 UBERON:0002198 UMLS:C0032009 UMLS:C1280368 VHOG:0000142 Wikipedia:Neurohypophysis ZFA:0001271 infundibular process lobus nervosus lobus nervosus neurohypophysis lobus posterior lobus posterior (glandula pituitaria) lobus posterior hypophysis ncithesaurus:Posterior_Lobe_of_the_Pituitary_Gland neural lobe neural lobe of pituitary neural lobe of pituitary gland neurohypophysis pituitary gland, neural lobe pituitary gland, posterior lobe posterior lobe of hypophysis posterior lobe of pituitary posterior lobe of pituitary gland posterior pituitary posterior pituitary gland uberon spinal cord (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG] AAO:0010151 BM:SpC BTO:0001279 CALOHA:TS-0953 EFO:0000110 EHDAA2:0001255 EHDAA:2863 EMAPA:17577 EMAPA:17700 EV:0100316 Elongated, approximately cylindrical part of the central nervous system that lies in the vertebral canal and from which the spinal nerves emerge. FMA:7647 GAID:695 MA:0000216 MAT:0000183 MESH:A08.186.854 MIAA:0000183 NIF_GrossAnatomy:birnlex_1709 OpenCyc:Mx4rvVjjk5wpEbGdrcN5Y29ycA Part of the central nervous system which descends from the hindbrain within the vertebral column.[AAO] SCTID:180959008 TAO:0000075 TODO: add superclass to unify with VNC? UBERON:0002240 UMLS:C0037925 VHOG:0000601 Wikipedia:Spinal_cord XAO:0000020 ZFA:0000075 http://upload.wikimedia.org/wikipedia/commons/5/58/Spinal_cord_direv.svg medulla spinalis ncithesaurus:Spinal_Cord spinal cord structure spinal medulla uberon definitional 2012-06-20 AAO AAO:0010151 AAO:BJB Part of the central nervous system which descends from the hindbrain within the vertebral column.[AAO] BTO:0001279 spinal medulla VHOG:0000601 (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (4) a single, tubular nerve cord that is located dorsal to the notochord (...) (reference 1); The neural tube is destined to differentiate into the brain and spinal cord (the central nervous system) (reference 2).[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28, ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.165 VHOG VHOG:0000601 http://bgee.unil.ch/ BTO:0001279 medulla spinalis Elongated, approximately cylindrical part of the central nervous system that lies in the vertebral canal and from which the spinal nerves emerge. OMD:spinal+cord Wikipedia:Spinal_cord ZFA:0000075 spinal cord structure Wikipedia:Spinal_cord medulla spinalis vomeronasal organ (...) the vomeronasal organ is known only in some tetrapods. It is absent in most turtles, crocodiles, birds, some bats, and aquatic mammals. In amphibians, it is in a recessed area off the main nasal cavity. (...) In mammals possesing this organ, it is an isolated area of olfactory membrane within the nasal cavity that is usually connected to the mouth via the nasopalatine duct (reference 1); The opinions concerning the presence and functioning of the vomeronasal organ in humans are controversial. The vomeronasal cavities appear early in human foetuses. (...) Historical examination of the nasal septum revealed the presence of vomeronasal cavities in approximately 70% of adults. In contrast to the situation in other mammals, the organ is not supported by a rigid tube of bone or cartilage (reference 2); (...) the best evidence for the homology of the human VNO to that of other primates (and of mammals in general) is ontogenetic in nature, based on a common embryonic origin from a thickening (vomeronasal primordium) on the medial aspect of each olfactory pit (reference 3); (...) suggesting that lungfish possess a region homologous to the accessory olfactory bulb of tetrapods. Based on these results, it seems appropriate to refer to the recess epithelium as a primordium of the vomeronasal organ (reference 4). [debated][VHOG] AAO:0000997 An organ thought to supplement the olfactory system in receiving pheromonic communication. The sensory part of the organ is in two long, thin sacs, situated on either side of the nasal septum at its base. [TFD][VHOG] BTO:0002608 EFO:0001934 EHDAA2:0002211 EHDAA:7865 EMAPA:17612 FMA:77280 GAID:354 Jacobson's organ MA:0000289 MESH:A04.531.591.940 SCTID:361346007 Taxon notes: Generally formed only in tetrapods; lungfish have rudimentary VN organs; true VN organs are not normally found in recent fishes, birds, aquatic reptiles, aquatic mammals (Bertmar 1980). Humans: Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans was controversial, though most studies agree the organ regresses during fetal development. Many genes essential for VNO function in animals (such as TRPC2) are non-functional in humans (Liman ER. Use it or lose it: molecular evolution of sensory signaling in primates. Pflugers Arch. 2006;453(2):125-31.) The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted]. UBERON:0002255 VHOG:0000665 VNO Wikipedia:Vomeronasal_organ XAO:0000272 http://upload.wikimedia.org/wikipedia/commons/8/84/Gray51.png http://upload.wikimedia.org/wikipedia/commons/thumb/8/84/Gray51.png/200px-Gray51.png organ of Jacobsen organon vomeronasale organum vomeronasale uberon The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted]. Wikipedia:Vomeronasal_organ Jacobson's organ XAO:0000272 (...) the vomeronasal organ is known only in some tetrapods. It is absent in most turtles, crocodiles, birds, some bats, and aquatic mammals. In amphibians, it is in a recessed area off the main nasal cavity. (...) In mammals possesing this organ, it is an isolated area of olfactory membrane within the nasal cavity that is usually connected to the mouth via the nasopalatine duct (reference 1); The opinions concerning the presence and functioning of the vomeronasal organ in humans are controversial. The vomeronasal cavities appear early in human foetuses. (...) Historical examination of the nasal septum revealed the presence of vomeronasal cavities in approximately 70% of adults. In contrast to the situation in other mammals, the organ is not supported by a rigid tube of bone or cartilage (reference 2); (...) the best evidence for the homology of the human VNO to that of other primates (and of mammals in general) is ontogenetic in nature, based on a common embryonic origin from a thickening (vomeronasal primordium) on the medial aspect of each olfactory pit (reference 3); (...) suggesting that lungfish possess a region homologous to the accessory olfactory bulb of tetrapods. Based on these results, it seems appropriate to refer to the recess epithelium as a primordium of the vomeronasal organ (reference 4). [debated][VHOG] 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.669 (ref.1), PMID:9866877 Doving KB, Trotier D, Review: Structure and function of the vomeronasal organ. The Journal of Experimental Biology (1998) (ref.2), DOI:10.1046/j.1469-7580.2001.19810077.x Smith TD, Siegel MI, Bonar CJ, Bhatnagar KP, Mooney MP, Burrows AM, Smith MA, Maico LM, The existence of the vomeronasal organ in postnatal chimpanzees and evidence for its homology with that of humans. J Anat (2001) (ref.3) , DOI:10.1002/ar.22415 Nakamuta S, Nakamuta N, Taniguchi K, Taniguchi K, Histological and ultrastructural characteristics of the primordial vomeronasal organ in lungfish. Anat Rec (Hoboken) (2012) (ref.4) VHOG VHOG:0000665 http://bgee.unil.ch/ VHOG:0000665 2012-09-17 An organ thought to supplement the olfactory system in receiving pheromonic communication. The sensory part of the organ is in two long, thin sacs, situated on either side of the nasal septum at its base. [TFD][VHOG] VHOG VHOG:0000665 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/vomeronasal+organ BTO:0002608 organum vomeronasale Wikipedia Wikipedia:Vomeronasal_organ organum vomeronasale VHOG:0000665 VNO brainstem 'brainstem' is a loose term that sometimes refers to the ventral parts o the brain except for any part of the telencephalon - sometimes it includes the diencephalon or subpallial telencephalon structures (ISBN10:0471888893). Here we use it in a more restriced sense, to include only the medulla oblongata, pons (when present) and the midbrain tegmentum (following the ZFA definitions). ABA:BS BTO:0000146 CALOHA:TS-0093 EFO:0001962 EV:0100241 FMA:79876 MA:0000169 MESH:A08.186.211.132 Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain.[TAO] Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted]. NIF_GrossAnatomy:birnlex_1565 SCTID:180925009 TAO:0002156 UBERON:0002298 UMLS:C0006121 VHOG:0001457 Wikipedia:Brainstem ZFA:0001707 brain stem http://upload.wikimedia.org/wikipedia/commons/b/b7/Gray719.png http://upload.wikimedia.org/wikipedia/commons/thumb/b/b7/Gray719.png/200px-Gray719.png ncithesaurus:Brain_Stem truncus encephali truncus encephalicus uberon BTO:0000146 truncus encephalicus Wikipedia:Brainstem truncus encephali 2012-08-14 ISBN:3764351209 Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain.[TAO] TAO TAO:0002156 ABA:BS brain stem ABA VHOG:0001457 ISBN10:0471888893 Multi-tissue structure that has as its parts the medulla oblongata of the hindbrain and the tegmentum of the midbrain[ZFA,adopted]. Wikipedia:Brainstem ZFA:0001707 midbrain tectum BM:MB-Tec BTO:0001793 Dorsal part of the midbrain, consisting of the superior and inferior colliculi and the pretectal nuclei [MM, NIF]. The tectum is a region of the brain, specifically the dorsal part of the mesencephalon (midbrain). This is contrasted with the tegmentum, which refers to the region ventral to the ventricular system. It is derived in embryonic development from the alar plate of the neural tube. [WP,unvetted]. EFO:0000920 EHDAA2:0004474 EMAPA:19051 FMA:83902 In adult humans it is present only in the mesencephalon as the inferior and the superior colliculi[WP]. MA:0000211 MAT:0000451 NIF_GrossAnatomy:birnlex_1032 SCTID:362394008 TAO:0001353 The tectum - a multisensory, topologically mapped structure in the roof of the midbrain presents a remarkable degree of conservation in all vertebrate radiations; although it varies in the extent of its development in different vertebrate classes, there is considerable evidence now to deem its layered structure, its cell types, and its hodological pattern as homologous in all vertebrates.[well established][VHOG] UBERON:0002314 UMLS:C0039433 VHOG:0001388 Wikipedia:Midbrain_tectum http://upload.wikimedia.org/wikipedia/commons/c/cf/Gray685.png http://upload.wikimedia.org/wikipedia/commons/thumb/c/cf/Gray685.png/200px-Gray685.png mesencephalic tectum ncithesaurus:Tectum_Mesencephali neuraxis tectum t. mesencephali tectum tectum mesencephali uberon Dorsal part of the midbrain, consisting of the superior and inferior colliculi and the pretectal nuclei [MM, NIF]. The tectum is a region of the brain, specifically the dorsal part of the mesencephalon (midbrain). This is contrasted with the tegmentum, which refers to the region ventral to the ventricular system. It is derived in embryonic development from the alar plate of the neural tube. [WP,unvetted]. NIF_GrossAnatomy:birnlex_1032 Wikipedia:Midbrain_tectum ZFA:0000445 mesencephalic tectum 2012-09-17 DOI:10.1371/journal.pone.0003582 Maximino C, Evolutionary Changes in the Complexity of the Tectum of Nontetrapods: A Cladistic Approach. PLoS ONE (2008) The tectum - a multisensory, topologically mapped structure in the roof of the midbrain presents a remarkable degree of conservation in all vertebrate radiations; although it varies in the extent of its development in different vertebrate classes, there is considerable evidence now to deem its layered structure, its cell types, and its hodological pattern as homologous in all vertebrates.[well established][VHOG] VHOG VHOG:0001388 http://bgee.unil.ch/ Wikipedia:Midbrain_tectum t. mesencephali BTO:0001793 tectum mesencephali VHOG:0001388 umbilical cord BTO:0001415 CALOHA:TS-1078 EFO:0001415 EHDAA2:0000312 EHDAA:158 EMAPA:26115 EV:0100127 FMA:85541 GAID:517 MAT:0000280 MESH:A16.254.789 MIAA:0000280 OpenCyc:Mx4rvyewDJwpEbGdrcN5Y29ycA SCTID:280644003 See notes for connecting stalk The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta. Conversely, the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP]. UBERON:0002331 UMLS:C0041633 Wikipedia:Umbilical_cord birth cord connecting stalk funiculus umbilicalis http://upload.wikimedia.org/wikipedia/commons/f/f3/Umbilicalcord.jpg ncithesaurus:Umbilical_Cord uberon umbilical yolk stalk Wikipedia:Umbilical_cord funiculus umbilicalis Wikipedia:Umbilical_cord birth cord The connecting cord from the developing embryo or fetus to the placenta. During prenatal development, the umbilical cord comes from the same zygote as the fetus and (in humans) normally contains two arteries (the umbilical arteries) and one vein (the umbilical vein), buried within Wharton's jelly. The umbilical vein supplies the fetus with oxygenated, nutrient-rich blood from the placenta. Conversely, the umbilical arteries return the deoxygenated, nutrient-depleted blood[WP]. Wikipedia:Umbilical_cord BTO:0001415 yolk stalk pulmonary trunk An arterial trunk with origin from the right ventricle of the heart, and dividing into the right and left pulmonary arteries, which enter the corresponding lungs and branch with the bronchi. [TFD][VHOG] As in birds, the conus arteriosus split during embryonic development in mammals to produce the pulmonary trunk and single aortic trunk of the adult.[well established][VHOG] EHDAA2:0001576 EHDAA:9831 EMAPA:17015 EMAPA:18240 FMA:8612 MA:0002033 OpenCyc:Mx4rv-6d0ZwpEbGdrcN5Y29ycA Pulmonary arterial trunk which is continuous with the right ventricle.[FMA] UBERON:0002333 VHOG:0001134 Wikipedia:Pulmonary_artery galen:PulmonaryTrunk http://upload.wikimedia.org/wikipedia/commons/d/db/Alveoli_diagram.png http://upload.wikimedia.org/wikipedia/commons/thumb/d/db/Alveoli_diagram.png/200px-Alveoli_diagram.png pulmonary artery (trunk) trunk of pulmonary arterial tree uberon VHOG:0001134 FMA:FMA Pulmonary arterial trunk which is continuous with the right ventricle.[FMA] Wikipedia:Pulmonary_artery 2012-09-17 An arterial trunk with origin from the right ventricle of the heart, and dividing into the right and left pulmonary arteries, which enter the corresponding lungs and branch with the bronchi. [TFD][VHOG] VHOG VHOG:0001134 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/pulmonary+trunk MA 2012-09-17 As in birds, the conus arteriosus split during embryonic development in mammals to produce the pulmonary trunk and single aortic trunk of the adult.[well established][VHOG] ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.481 VHOG VHOG:0001134 http://bgee.unil.ch/ corpus callosum BM:Tel-CC BTO:0000615 CALOHA:TS-0180 EFO:0001390 EV:0100305 FMA:86464 GAID:683 In addition to the anterior commissure, placental mammals have a phylogenetically new forebrain commissure, the corpus callosum, which primarily interconnects the neocortex of the cerebral hemispheres.[well established][VHOG] MA:0000188 MAT:0000286 MESH:A08.186.211.730.885.362 MIAA:0000286 NIF_GrossAnatomy:birnlex_1087 OpenCyc:Mx4rvbNzdZwpEbGdrcN5Y29ycA SCTID:362354006 The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres[GO]. The corpus callosum is found only in placental mammals. other groups do have other brain structures that allow for communication between the two hemispheres, such as the anterior commissure, which serves as the primary mode of interhemispheric communication in marsupials. The largest commissure of the brain connecting the cerebral hemispheres. [TFD][VHOG] UBERON:0002336 UMLS:C0010090 VHOG:0001608 Wikipedia:Corpus_callosum http://upload.wikimedia.org/wikipedia/commons/a/aa/Gray733.png http://upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Gray733.png/200px-Gray733.png ncithesaurus:Corpus_Callosum uberon 2012-09-17 The largest commissure of the brain connecting the cerebral hemispheres. [TFD][VHOG] VHOG VHOG:0001608 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/corpus+callosum VHOG:0001608 The corpus callosum is found only in placental mammals. other groups do have other brain structures that allow for communication between the two hemispheres, such as the anterior commissure, which serves as the primary mode of interhemispheric communication in marsupials. http://en.wikipedia.org/wiki/Corpus_callosum#Species_Differences 2012-09-17 DOI:10.1111/j.1749-6632.1969.tb20447.x Ebner FF, A comparison of primitive forebrain organization in metatherian and eutherian mammals. Annals of the New York Academy of Sciences (1969) In addition to the anterior commissure, placental mammals have a phylogenetically new forebrain commissure, the corpus callosum, which primarily interconnects the neocortex of the cerebral hemispheres.[well established][VHOG] VHOG VHOG:0001608 http://bgee.unil.ch/ The corpus callosum is a thick bundle of nerve fibers comprising a commissural plate connecting the two cerebral hemispheres. It consists of contralateral axon projections that provides communications between the right and left cerebral hemispheres[GO]. Wikipedia:Corpus_callosum descending thoracic aorta EFO:0002527 EMAPA:18605 FMA:87217 MA:0002572 SCTID:181301002 This class was created automatically from a combination of ontologies UBERON:0002345 the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. uberon MP:0009868 the part of the aorta that extends from the arch of the aorta to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest. myocardium AAO:0010410 BTO:0000901 CALOHA:TS-0440 EFO:0000819 EHDAA2:0004150 EV:0100022 FMA:9462 GAID:173 MA:0000164 MAT:0000453 MESH:A02.633.580 OpenCyc:Mx4ro36AFrCvEduAAAAOpmP6tw RETIRED_EHDAA2:0001220 Robust muscular tunic of the heart which forms the basic part of its walls. Its external surface is covered by the pericardium and its internal one by the endocardium. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] SCTID:362012001 TAO:0001319 TODO - check 'Myocardum proper' in FMA. We superclass the more generic class for now. FMA has is_a muscle layer - should we add this? ZFA and BTO both have is_a 'cardiac muscle' (tissue?). But in U we also follow FMA and have cardiac muscle tissue of myocardium (there is also Fibrocollagenous connective tissue of myocardium), which would be identical (see issue-10). Note that GO also treats left/right ventricular cardiac muscle tissue synonymous with ventricular myocardium The middle layer of the heart, consisting of cardiac muscle.[AAO] UBERON:0002349 UMLS:C0027061 VHOG:0000083 Wikipedia:Myocardium XAO:0000065 ZFA:0001319 cardiac muscle galen:Myocardium heart muscle heart myocardium http://upload.wikimedia.org/wikipedia/commons/thumb/6/6e/Glanzstreifen.jpg/200px-Glanzstreifen.jpg middle muscular layer of the heart wall[M-W]. Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart[FMA]. muscle of heart myocardial ncithesaurus:Myocardium uberon 2012-09-17 Robust muscular tunic of the heart which forms the basic part of its walls. Its external surface is covered by the pericardium and its internal one by the endocardium. [Dorian_AF, Elsevier's_encyclopaedic_dictionary_of_medicine, Part_B:_Anatomy_(1988)_Amsterdam_etc.:_Elsevier][VHOG] VHOG VHOG:0000083 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010410 AAO:BJB The middle layer of the heart, consisting of cardiac muscle.[AAO] ZFA:0001319 cardiac muscle ZFA:0001319 heart muscle Wikipedia:Myocardium middle muscular layer of the heart wall[M-W]. Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart[FMA]. FMA:9462 muscle of heart FMA:9462 heart muscle VHOG:0000083 atrioventricular node EFO:0000276 EHDAA2:0004183 FMA:9478 GAID:558 MA:0000095 MAT:0000498 MESH:A07.541.409.147 OpenCyc:Mx4rMfD91mMcEd2AAABQjYGu0g SCTID:277688002 Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.[FMA] TAO:0005070 This class was created automatically from a combination of ontologies Three major adaptations, or 'novel cardiac components', that were not present in the ancestor chordate heart tube can be distinguished in the lower vertebrate heart: the atrium, ventricle, and possibly the muscular sinus venosus. Furthermore, within the ventricular component a compact outer myocardial component and an interiorly localized extensive trabecular component can be distinguished. The specific activation of the ventricle adds to its complexity as follows. The depolarizing impulse travels rapidly from the atrioventricular node toward the apex and then toward the conal region, achieving activation from apex to base.[uncertain][VHOG] UBERON:0002352 UMLS:C0004247 VHOG:0001474 Wikipedia:Atrioventricular_node ZFA:0005070 aschoff-tawara node atrioventricular nodal muscle tissue atriovetricular node av nodal muscle tissue av node http://upload.wikimedia.org/wikipedia/commons/5/50/ConductionsystemoftheheartwithouttheHeart.png http://upload.wikimedia.org/wikipedia/commons/thumb/9/92/Gray501.png/200px-Gray501.png ncithesaurus:Atrioventricular_Node node of tawara nodus atrioventricularis uberon VHOG:0001474 2012-09-17 DOI:10.1152/physrev.00006.2003 Moorman AFM, Christoffels VM, Cardiac Chamber Formation: Development, Genes, and Evolution. Physiological Reviews (2003) Three major adaptations, or 'novel cardiac components', that were not present in the ancestor chordate heart tube can be distinguished in the lower vertebrate heart: the atrium, ventricle, and possibly the muscular sinus venosus. Furthermore, within the ventricular component a compact outer myocardial component and an interiorly localized extensive trabecular component can be distinguished. The specific activation of the ventricle adds to its complexity as follows. The depolarizing impulse travels rapidly from the atrioventricular node toward the apex and then toward the conal region, achieving activation from apex to base.[uncertain][VHOG] VHOG VHOG:0001474 http://bgee.unil.ch/ TAO:0005070 atriovetricular node Wikipedia:Atrioventricular_node nodus atrioventricularis FMA:FMA Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle.[FMA] Wikipedia:Atrioventricular_node pelvis BTO:0001006 CALOHA:TS-2227 EFO:0002805 EV:0100012 FMA:9578 GAID:87 MA:0000030 MESH:A01.673 Note that MA and FMA differ in what they consider to be parts of the pelvis. MA includes ureter, urethra, urinary bladder, reproductive organs OpenCyc:Mx4rvVjiTJwpEbGdrcN5Y29ycA SCTID:229765004 Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen[FMA]. UBERON:0002355 UMLS:C0030797 Wikipedia:Pelvis galen:Pelvis http://upload.wikimedia.org/wikipedia/commons/f/fe/Gray242.png http://upload.wikimedia.org/wikipedia/commons/thumb/f/fe/Gray242.png/200px-Gray242.png lesser pelvis ncithesaurus:Pelvis pelvic pelvic region pelvis region true pelvis uberon FMA:9578 Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen[FMA]. Wikipedia:Pelvis FMA:9578 lesser pelvis FMA:9578 true pelvis perineum AO Note: FMA has class anal part of perineum, which may be the same as what EHDAA2 calls perineum EFO:0004141 EHDAA2:0004015 EV:0100013 FMA:9579 GAID:90 MA:0002466 MESH:A01.719 OpenCyc:Mx4rvcHSh5wpEbGdrcN5Y29ycA SCTID:243990009 Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]. UBERON:0002356 UMLS:C0031066 Wikipedia:Perineum galen:Perineum http://upload.wikimedia.org/wikipedia/commons/e/ef/Gray406.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/ef/Gray406.png/200px-Gray406.png ncithesaurus:Perineum perianal perineal region regio perinealis uberon FMA:9579 FMA:TA regio perinealis FMA:9579 Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, abdomen, and pelvis, it constitutes the trunk[FMA]. Wikipedia:Perineum peritoneum FMA:9584 A serous membrane that lines the peritoneal cavity peritonaeum meninx BTO:0000144 CALOHA:TS-1177 EFO:0000867 EV:0100312 Editor note: consider separate term for meninges aka collection of meninges. Note in EHDAA2 pia mater etc are part of the meninges. Also consider a new class for primary/primitive meninx. AO notes: Not consider part of the CNS/neuraxis in FMA. Taxon notes: Whereas cyclostomes and fishes only have a single envelope called the primitive meninx, amphibians have two layers, consisting of an outer dura mater which is extremely dense and protective, and a pia-arachnoid or secondary meninx which is more delicate and vascular. Mammals have three meninges: pia mater (which follows all the convolutions of the brain and is the most interior), the arachnoid layer (which is delicate and sends strands to the pia mater), and the dura mater (the outer, more protective meninx). FMA:9589 GAID:687 In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] MA:0001113 MAT:0000113 MESH:A08.186.566 Membrane covering the brain and spinal cord. It is represented by a single layer in fishes, two in amphibians, reptiles and birds and three in mammals (named dura mater, arachnoid and pia mater). [TFD][VHOG] Membrane organ that surrounds the brain and the spinal cord. NIF_GrossAnatomy:nlx_anat_090204 OpenCyc:Mx4rwDOl8JwpEbGdrcN5Y29ycA TAO:0001355 UBERON:0002360 UMLS:C0025285 VHOG:0001295 Wikipedia:Meninx ZFA:0001355 http://upload.wikimedia.org/wikipedia/commons/thumb/4/48/Illu_meninges.jpg/200px-Illu_meninges.jpg layer of meninges meningeal meningeal layer meninx primitiva ncithesaurus:Meninges uberon 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.639 In fishes, the meninges consist of a single membrane, the primitive meninx, wrapped around the brain and spinal cord. With the adoption of terrestrial life, the meninges doubled. In amphibians, reptiles, and birds, the meninges include a thick outer dura mater derived from mesoderm and a thin inner secondary meninx. (...) In mammals, the dura mater persists, but division of the secondary meninx yields both the arachnoid and the pia mater from ectomesoderm.[well established][VHOG] VHOG VHOG:0001295 http://bgee.unil.ch/ VHOG:0001295 meninx primitiva FMA:9589 Membrane organ that surrounds the brain and the spinal cord. Wikipedia:Meninx http://www.shsu.edu/~bio_mlt/Chap15.html 2012-09-17 Membrane covering the brain and spinal cord. It is represented by a single layer in fishes, two in amphibians, reptiles and birds and three in mammals (named dura mater, arachnoid and pia mater). [TFD][VHOG] VHOG VHOG:0001295 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/meninges VHOG:0001295 prostate gland BTO:0001129 CALOHA:TS-0828 EFO:0000858 EMAPA:19287 EV:0100104 FMA:9600 GAID:392 MA:0000404 MAT:0000078 MESH:A05.360.444.575 MIAA:0000078 OpenCyc:Mx4rv6trqZwpEbGdrcN5Y29ycA SCTID:181422007 TODO - FMA treats the gland as part of the prostate - see also FMA:74119. The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. UBERON:0002367 UMLS:C0033572 VHOG:0001261 Wikipedia:Prostate galen:ProstateGland http://upload.wikimedia.org/wikipedia/commons/a/a1/Prostatelead.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/a/a1/Prostatelead.jpg/200px-Prostatelead.jpg male prostate ncithesaurus:Prostate_Gland prostata prostate prostatic uberon Wikipedia:Prostate prostata VHOG:0001261 GO:0030850 The prostate gland is a partly muscular, partly glandular body that is situated near the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. Wikipedia:Prostate PMID:10668204 male prostate thymus A thymus develops in all vertebrates from the endodermal epithelium of certain pharyngeal pouches and from the adjacent ectodermal epithelium. In fishes, all the pouches, or the first four, contribute to thymus formation, but in tetrapods, the number is more restricted. In mammals, only the third and fourth are involved, and the contribution of the third is by far the greater.[well established][VHOG] AAO:0010548 Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. Anatomical structure which originates as several paired thickenings on the dorsal side of the pharyngeal pouches and secretes thymosin.[AAO] BTO:0001374 CALOHA:TS-1043 EFO:0000860 EHDAA2:0002017 EHDAA:9119 EMAPA:18768 EV:0100138 FMA:9607 GAID:464 MA:0000142 MAT:0000080 MESH:A06.407.850 MIAA:0000080 OpenCyc:Mx4rvpIympwpEbGdrcN5Y29ycA SCTID:118507000 TAO:0001078 UBERON:0002370 UMLS:C0040113 VHOG:0000253 Wikipedia:Thymus XAO:0000163 ZFA:0001078 check - a subtype of gland? not in GO. NCIT has thymus and thymus gland. EHDAA2 has ductless gland. http://upload.wikimedia.org/wikipedia/commons/c/cf/Illu_thymus.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/c/cf/Illu_thymus.jpg/200px-Illu_thymus.jpg ncithesaurus:Thymus_Gland thymic thymus gland uberon ZFA Anatomical structure of largely lymphoid tissue that functions in cell-mediated immunity by being the site where T cells develop. NLM:thymus Wikipedia:Thymus 2012-09-17 A thymus develops in all vertebrates from the endodermal epithelium of certain pharyngeal pouches and from the adjacent ectodermal epithelium. In fishes, all the pouches, or the first four, contribute to thymus formation, but in tetrapods, the number is more restricted. In mammals, only the third and fourth are involved, and the contribution of the third is by far the greater.[well established][VHOG] ISBN:978-0878932504 Gilbert SF, Developmental Biology (2006) p.558 VHOG VHOG:0000253 http://bgee.unil.ch/ XAO 2012-06-20 AAO AAO:0010548 AAO:BJB Anatomical structure which originates as several paired thickenings on the dorsal side of the pharyngeal pouches and secretes thymosin.[AAO] VHOG:0000253 bone marrow AAO:0011007 BTO:0000141 BTO:0000829 CALOHA:TS-0087 EFO:0000868 EV:0100046 FMA:9608 GAID:1287 MA:0000134 MAT:0000084 MESH:A15.382.216 MIAA:0000084 OpenCyc:Mx4rvVm-FpwpEbGdrcN5Y29ycA SCTID:421320006 TODO - create superclass for bone marrow / head kidney. both are portions of tissue in the hematopoetic system. also consider adding as subclass of zone of bone organ for consistency with FMA. See also: Leydig and epigonal organs The bone marrow is the hematopoietic organ in all vertebrates but fishes, in which hematopoiesis occurs in the kidney.[well established][VHOG] UBERON:0002371 UMLS:C0005953 VHOG:0001218 Wikipedia:Bone_marrow XAO:0000123 anterior kidney flexible tissue found in the hollow interior of bones. In adults, marrow in large bones produces new blood cells[WP]. galen:BoneMarrow head kidney http://upload.wikimedia.org/wikipedia/commons/7/74/Gray72-en.svg kidney marrow medulla of bone medulla ossea medulla ossium ncithesaurus:Bone_Marrow uberon VHOG:0001218 Wikipedia:Bone_marrow flexible tissue found in the hollow interior of bones. In adults, marrow in large bones produces new blood cells[WP]. BTO:0000141 medulla of bone BTO:0000141 medulla ossium Wikipedia:Bone_marrow medulla ossium 2012-09-17 DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood Cells and Blood Cell Development in the Animal Kingdom. Annual Review of Cell and Developmental Biology (2006) The bone marrow is the hematopoietic organ in all vertebrates but fishes, in which hematopoiesis occurs in the kidney.[well established][VHOG] VHOG VHOG:0001218 http://bgee.unil.ch/ tonsil BTO:0001387 CALOHA:TS-1053 EFO:0001401 EV:0100052 FMA:9609 GAID:341 MA:0000143 MESH:A03.867.603.925 Mandel OpenCyc:Mx4rvVivrZwpEbGdrcN5Y29ycA Portion of lymphoid tissue on either side of the throat. UBERON:0002372 UMLS:C0836921 UMLS:C1519547 UMLS:C1519548 Usage notes: the term 'tonsil' can be ambiguous, sometimes refering specifically to the palatine tonsil, sometimes generically to include the cecal tonsils of avians. This class represents lymphoid tissue that is part of the tonsillar ring, in the mouth/throat region VHOG:0001139 Wikipedia:Tonsil ncithesaurus:Tonsil ncithesaurus:Tonsilar_Tissue ncithesaurus:Tonsillar_Lymphoid_Tissue uberon BTO:0001387 Mandel VHOG:0001139 Portion of lymphoid tissue on either side of the throat. Wikipedia:Tonsil palatine tonsil BTO:0004714 Development notes: tonsillar fossa develops from dorsal portion of pouch 2. Note that pharyngeal and lingual tonsils do not develop from pharyngeal pouches[ISBN10:1607950324] EFO:0001977 EV:0100393 FMA:9610 MA:0000775 MAT:0000291 MIAA:0000291 SCTID:265787001 UBERON:0002373 UMLS:C0040421 VHOG:0001140 Wikipedia:Palatine_tonsil faucial tonsil http://upload.wikimedia.org/wikipedia/commons/f/f6/Illu_mouth.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/f/f6/Illu_mouth.jpg/200px-Illu_mouth.jpg ncithesaurus:Palatine_Tonsil tonsil tonsilla palatina tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]. uberon VHOG:0001140 Wikipedia:Palatine_tonsil tonsilla palatina Wikipedia Wikipedia:Palatine_tonsil tonsils on the left and right sides at the back of the throat. one of the mucosa-associated lymphoid tissues (MALT), located at the entrance to the upper respiratory and gastrointestinal tracts to protect the body from the entry of exogenous material through mucosal sites[WP]. metacarpal bone A bone that is part of the metacarpal skeleton. EFO:0003886 FMA:9612 MA:0000302 OpenCyc:Mx4rv1Bk45wpEbGdrcN5Y29ycA SCTID:181977005 SCTID:425761003 UBERON:0002374 UMLS:C0025526 Wikipedia:Metacarpal_bone galen:Metacarpal http://upload.wikimedia.org/wikipedia/commons/thumb/2/2f/Metacarpals_numbered-en.svg/200px-Metacarpals_numbered-en.svg.png metacarpal ncithesaurus:Metacarpal_Bone uberon A bone that is part of the metacarpal skeleton. Wikipedia:Metacarpal_bone https://orcid.org/0000-0002-6601-2165 muscle of head AAO:0000107 Any muscle that is part of a head[Automatically generated definition]. BTO:0000021 EFO:0003524 EHDAA2:0000322 EMAPA:18171 FMA:9616 MA:0000578 TODO - check ZFA UBERON:0002376 ZFA:0001652 adult head muscle organ cephalic muscle cephalic musculature cranial muscle head muscle head muscle organ head muscles muscle organ of adult head muscle organ of head musculus caput uberon Any muscle that is part of a head[Automatically generated definition]. OBOL:automatic OBOL:automatic adult head muscle organ MA:0000578 head muscle ZFA:0001652 cephalic muscle OBOL:automatic head muscle organ EHDAA2-abduced ZFA:0001652 cranial muscle OBOL:automatic muscle organ of head OBOL:automatic muscle organ of adult head lymph BTO:0000855 CALOHA:TS-0580 EFO:0000871 ENVO:02000041 EV:0100049 FMA:9671 GAID:1186 MA:0002520 MAT:0000055 MESH:A12.207.630 MIAA:0000055 OpenCyc:Mx4rvpDOU5wpEbGdrcN5Y29ycA This class was created automatically from a combination of ontologies Transudate contained in the lumen of lymphatic vessel[FMA]. Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system[WP]. UBERON:0002391 UMLS:C0024202 VHOG:0001590 Wikipedia:Lymph ZFA:0005658 galen:Lymph http://upload.wikimedia.org/wikipedia/commons/1/19/Illu_lymph_capillary.png lympha ncithesaurus:Lymph uberon VHOG:0001590 Wikipedia:Lymph lympha FMA:9671 Transudate contained in the lumen of lymphatic vessel[FMA]. Lymph is the fluid that is formed when interstitial fluid enters the conduits of the lymphatic system[WP]. Wikipedia:Lymph bile duct biliary duct FMA:9706 hepatic duct gall duct Duct that carries bile from the liver to the small intestine pericardium AAO:0010817 BTO:0000717 CALOHA:TS-0761 EFO:0000820 EHDAA:5376 EMAPA:17174 EV:0100023 FMA:9869 GAID:569 MA:0000099 MAT:0000454 MESH:A07.541.795 OpenCyc:Mx4rvoCLgJwpEbGdrcN5Y29ycA Peritoneum that surrounds the heart.[AAO] RETIRED_EHDAA2:0001443 SCTID:181295003 TAO:0000054 The outer membrane/wall of the developing heart, surrounding the myocardium. UBERON:0002407 UMLS:C0031050 VHOG:0001280 We follow FMA in dividing pericardial sac in pericardium and pericardial cavity Wikipedia:Pericardium XAO:0004182 ZFA:0000054 galen:Pericardium http://upload.wikimedia.org/wikipedia/commons/7/7e/Gray489.png http://upload.wikimedia.org/wikipedia/commons/thumb/7/7e/Gray489.png/200px-Gray489.png ncithesaurus:Pericardium pericardial uberon 2012-06-20 AAO AAO:0010817 AAO:JMG Peritoneum that surrounds the heart.[AAO] XAO The outer membrane/wall of the developing heart, surrounding the myocardium. Wikipedia:Pericardium VHOG:0001280 vertebra AAO:0000691 CALOHA:TS-2352 EFO:0001371 Editor notes: Consider changing name to make distinction from inferred superclass 'vertebral element' clear // note we follow FMA in making this an irregular bone - however vertebra have 'epiphyses' which are currently classified as belonging to long bones Endochondral bone that forms around the notochord and is part of the vertebral column.[TAO] FMA:9914 In contrast to lampreys and jawed vertebrates, hagfishes were thought to lack vertebrae. Now, long overlooked vertebral rudiments have been analysed in hagfish, suggesting that vertebrae existed in the last common ancestor of all vertebrates.[well established][VHOG] Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum[FMA]. All serially repeated ossified, cartilaginous, and ligamentous elements around the notochord (Schultze and Arratia, 1988)[ZFA]. MA:0000309 Main component of the vertebral column. It consists of two essential parts, a dorsal neural arch and a ventral centrum.[AAO] OpenCyc:Mx4rvt2Dh5wpEbGdrcN5Y29ycA SCTID:181817002 TAO:0001189 UBERON:0002412 UMLS:C0549207 VHOG:0001143 Wikipedia:Vertebra XAO:0004019 ZFA:0001189 galen:Vertebra ncithesaurus:Vertebra uberon vertebra bone vertebrae PHENOSCAPE:ad vertebrae FMA:9914 Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum[FMA]. All serially repeated ossified, cartilaginous, and ligamentous elements around the notochord (Schultze and Arratia, 1988)[ZFA]. Wikipedia:Vertebra ZFIN:curator 2012-09-17 DOI:10.1016/j.cub.2011.07.014 Janvier P, Comparative anatomy: all vertebrates do have vertebrae. Current Biology (2011) In contrast to lampreys and jawed vertebrates, hagfishes were thought to lack vertebrae. Now, long overlooked vertebral rudiments have been analysed in hagfish, suggesting that vertebrae existed in the last common ancestor of all vertebrates.[well established][VHOG] VHOG VHOG:0001143 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0000691 AAO:Pugener_and_Maglia_2008 Main component of the vertebral column. It consists of two essential parts, a dorsal neural arch and a ventral centrum.[AAO] 2012-08-14 Endochondral bone that forms around the notochord and is part of the vertebral column.[TAO] TAO TAO:0001189 ZFIN:curator VHOG:0001143 tail AEO:0000109 BILA:0000117 BTO:0001348 EFO:0000963 EHDAA:9198 Editor notes: Note we also have a subclass post-anal tail, for the chordate specific structure. currently defined very generally, inclusive of caudal fin GAID:1245 MAT:0000094 MESH:A13.895 MIAA:0000094 OpenCyc:Mx4rvVjiC5wpEbGdrcN5Y29ycA UBERON:0002415 WBbt:0005741 Wikipedia:Tail caudal subdivision section at the rear end of an animal's body; in general, the term refers to a distinct, flexible appendage to the torso[WP]. uberon ISBN:0471209627 OMD:tail Wikipedia:Tail ZFIN:curator section at the rear end of an animal's body; in general, the term refers to a distinct, flexible appendage to the torso[WP]. caudal subdivision https://orcid.org/0000-0002-6601-2165 integumental system (...) the integument of many tetrapods is reinforced by a morphologically and structurally diverse assemblage of skeletal elements. These elements are widely understood to be derivatives of the once all-encompassing dermal skeleton of stem-gnathostomes (...).[well established][VHOG] CALOHA:TS-1299 EFO:0000807 EHDAA2:0000836 EHDAA:6520 EMAPA:17524 EV:0100151 FBbt:00004969 FMA:72979 HAO:0000421 MA:0000014 MAT:0000033 MESH:A17 MIAA:0000033 SCTID:361692004 TADS:0000108 UBERON:0002416 UMLS:C0037267 VHOG:0000403 Wikipedia:Integumentary_system XAO:0000176 dermal system in FMA, integumentary system = integument + certain glands. Note that here we use integumental system in a general sense, covering a variety of metazoans integumentary system integumentum commune ncithesaurus:Integumentary_System organ system that protects the body from damage, comprising the skin and its adnexa (including hair, scales, and nails). The integumentary system has a variety of functions; it may serve to waterproof, cushion and protect the deeper tissues, excrete wastes, regulate temperature and is the location of receptors for pain, sensation, pressure and temperature. In humans the integumentary system additionally provides vitamin D synthesis[WP]. uberon (...) the integument of many tetrapods is reinforced by a morphologically and structurally diverse assemblage of skeletal elements. These elements are widely understood to be derivatives of the once all-encompassing dermal skeleton of stem-gnathostomes (...).[well established][VHOG] 2012-09-17 DOI:10.1111/j.1469-7580.2008.01043.x Vickaryous MK, Sire JY, The integumentary skeleton of tetrapods: origin, evolution, and development. J Anat (2009) VHOG VHOG:0000403 http://bgee.unil.ch/ Wikipedia:Integumentary_system organ system that protects the body from damage, comprising the skin and its adnexa (including hair, scales, and nails). The integumentary system has a variety of functions; it may serve to waterproof, cushion and protect the deeper tissues, excrete wastes, regulate temperature and is the location of receptors for pain, sensation, pressure and temperature. In humans the integumentary system additionally provides vitamin D synthesis[WP]. Wikipedia:Integumentary_system integumentum commune VHOG:0000403 MIAA:0000033 dermal system FMA:72979 integumentary system basal ganglion BTO:0000235 CALOHA:TS-1149 EFO:0000904 Editor note: it is necessary to introduce two classes, one representing an individual basal ganglion, another representing the aggregate structure, in order to have consistent classification amongst AOs (e.g. in MA the aygdala is part of the BG, in FMA and BTO it is a subclass). Apart from achieving this consistency, the value of having two distinct classes is questionable, since the BG-plural is trivially the set of all BGs-singular. it would be better for all AOs to decide on one single way of doing this. Do not merge until this is done. FMA:62514 SCTID:244434001 UBERON:0002420 Wikipedia:Basal_ganglia basal ganglia basal ganglion of telencephalon basal nucleus http://upload.wikimedia.org/wikipedia/commons/1/1b/Basal_Ganglia_and_Related_Structures.svg http://upload.wikimedia.org/wikipedia/commons/thumb/1/1b/Basal_Ganglia_and_Related_Structures.svg/200px-Basal_Ganglia_and_Related_Structures.svg.png nuclei basales one of a group of nuclei in the brains of vertebrates, situated at the base of the forebrain and strongly connected with the cerebral cortex, thalamus and other areas.ganglion in the head. The main components of the basal ganglia are the striatum, pallidum, substantia nigra, and subthalamic nucleus[WP]. Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF]. uberon MA:0000184 basal nucleus Wikipedia:Basal_ganglia nuclei basales basal ganglia Wikipedia:Basal_ganglia one of a group of nuclei in the brains of vertebrates, situated at the base of the forebrain and strongly connected with the cerebral cortex, thalamus and other areas.ganglion in the head. The main components of the basal ganglia are the striatum, pallidum, substantia nigra, and subthalamic nucleus[WP]. Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum[NIF]. hepatobiliary system AAO:0011056 CALOHA:TS-1308 EFO:0000800 EHDAA2:0000998 EHDAA:2189 EMAPA:16840 EV:0100088 MA:0000324 MAT:0000024 MIAA:0000024 System responsible for the production and movement of bile[ZFIN:curator]. TAO:0000036 The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct UBERON:0002423 UMLS:C1711359 VHOG:0000294 Wikipedia:Hepatobiliary_system XAO:0000132 ZFA:0000036 hepaticobiliary system liver and biliary system liver/biliary system ncithesaurus:Hepatobiliary_System uberon GO:0061008 hepaticobiliary system System responsible for the production and movement of bile[ZFIN:curator]. ZFIN:curator VHOG:0000294 GO:0061008 The hepaticobiliary system is responsible for metabolic and catabolic processing of small molecules absorbed from the blood or gut, hormones and serum proteins, detoxification, storage of glycogen, triglycerides, metals and lipid soluble vitamins and excretion of bile. Included are the synthesis of albumin, blood coagulation factors, complement, and specific binding proteins. The parts are: liver, bile duct, gall bladder and hepatic duct Wikipedia:Hepatobiliary_system limb bone A bone that is part of a limb [Automatically generated definition]. AO notes: NCITA includes clavicle. MA:'limb bone' is actually a bone of limb or girdle // Note that the formal definition is very inclusive, and includes sesamoids EFO:0000945 MAT:0000151 MIAA:0000151 SCTID:304149004 UBERON:0002428 UMLS:C0582791 bone of extremity bone of limb free limb bone ncithesaurus:Bone_of_the_Extremity uberon UBERONREF:0000003 free limb bone https://orcid.org/0000-0002-6601-2165 A bone that is part of a limb [Automatically generated definition]. OBOL:automatic OBOL:automatic bone of limb zeugopod EFO:0000878 FMA:83016 MA:0002716 MAT:0000092 MIAA:0000092 The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). There exists some controversy about which podial segments are present in some fishes, e.g. if the autopod is not newly evolved in tetrapods, there is a question as to which segments are actually present in basal vertebrate taxa.[PHENOSCAPE:curators] UBERON:0002471 epipodium middle free limb segment middle limb segment middle part of limb middle segment of free limb uberon zeugopod limb segment zeugopodial zeugopodial limb segment zeugopodium zygopod zygopodium FMA:83016 middle free limb segment PHENOSCAPE:curators The middle free limb segment, between the autopod and stylopod segments. Includes as parts the zeugopodial skeleton. Examples: There are two types of zeugopod: forelimb zeugopod (aka forearm), hindlimb zeugopod (aka crus). MA:th zeugopod limb segment MA:th epipodium MA:th zeugopodial limb segment FMA:83016 middle segment of free limb stylopod EFO:0000879 FMA:83014 MA:0002717 MAT:0000093 MIAA:0000093 Naming conventions for pod terms under discussion within phenoscape group The proximal free limb segment. Includes as parts the stylopod skeleton. UBERON:0002472 propodium proximal free limb segment proximal part of limb proximal segment of free limb stylopodial stylopodial limb segment stylopodium uberon MA:th propodium MA:th stylopodial limb segment FMA:83014 proximal free limb segment FMA:83014 proximal segment of free limb otolith organ EFO:0003539 Editor notes: Representation of utricle, sacule and otoliths in correspondence to other ontologies may require review. In EHDAA2, saccule and utricle are epithelia GAID:883 In fishes, as in other vertebrates, the vestibular end-organs are divided into a gravity receptor system, with three subdivisions and an angular acceleration receptor system. The gravity receptor system on each side consists of utricular, saccular, and lagenar maculae, each covered by an otolith (reference 1); (...)considerations have led to our rethinking issues related to the origin of several aspects of vertebrate hearing, and to the view that many basic auditory functions evolved very early in vertebrate history, and that the functions observed in more `advanced' vertebrates, such as birds and mammals, are frequently modifications of themes first encountered in fishes, and perhaps even more ancestral animals (reference 2).[well established][VHOG] MA:0002841 MESH:A09.246.631.909.625 TAO:0000559 UBERON:0002518 VHOG:0001676 Wikipedia:Otolith_organ ZFA:0000559 http://upload.wikimedia.org/wikipedia/commons/c/cb/Bigotolith.jpg http://upload.wikimedia.org/wikipedia/commons/thumb/c/cb/Bigotolith.jpg/200px-Bigotolith.jpg otolith organs saccule and utricle saccule or utricle. uberon utricle and saccule 2012-09-17 In fishes, as in other vertebrates, the vestibular end-organs are divided into a gravity receptor system, with three subdivisions and an angular acceleration receptor system. The gravity receptor system on each side consists of utricular, saccular, and lagenar maculae, each covered by an otolith (reference 1); (...)considerations have led to our rethinking issues related to the origin of several aspects of vertebrate hearing, and to the view that many basic auditory functions evolved very early in vertebrate history, and that the functions observed in more `advanced' vertebrates, such as birds and mammals, are frequently modifications of themes first encountered in fishes, and perhaps even more ancestral animals (reference 2).[well established][VHOG] PMID:11581521 Moorman SJ, Development of sensory systems in zebrafish (Danio rerio). ILAR Journal (2001), DOI:10.1016/S0378-5955(00)00168-4 Fay RR, Popper AN, Evolution of hearing in vertebrates: the inner ears and processing. Hearing research (2000) VHOG VHOG:0001676 http://bgee.unil.ch/ MESH:A09.246.631.909.625 utricle and saccule ZFA:0000559 otolith organs VHOG:0001676 MESH:A09.246.631.909.625 saccule and utricle Wikipedia:Otolith_organ saccule or utricle. mediastinal lymph node A lymph node that is part of a mediastinum. Each consists of several lymph node groups, especially along the trachea (5 groups), along the esophagus and between the lung and the diaphragm. In the mediastinal lymph nodes arises lymphatic ducts, which draines the lymph to the left subclavian vein (to the venous angle in the confluence of the subclavian and deep jugular veins). The mediastinal lymph nodes along the esophagus are in tight connection with the abdominal lymph nodes along the esophagus and the stomach. That fact facilitates spreading of tumors cells through these lymphatics in cases of cancers of the stomach and particularly of the esophagus. Through the mediastinum, the main lymphatic drainage from the abdominal organs goes via the thoracic duct (ductus thoracicus), which drains majority of the lymph from the abdomen to the above mentioned left venous angle. EFO:0001670 FMA:12774 MA:0002877 SCTID:181760002 UBERON:0002524 UMLS:C0588055 Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax mediastinal node ncithesaurus:Mediastinal_Lymph_Node uberon A lymph node that is part of a mediastinum. Each consists of several lymph node groups, especially along the trachea (5 groups), along the esophagus and between the lung and the diaphragm. In the mediastinal lymph nodes arises lymphatic ducts, which draines the lymph to the left subclavian vein (to the venous angle in the confluence of the subclavian and deep jugular veins). The mediastinal lymph nodes along the esophagus are in tight connection with the abdominal lymph nodes along the esophagus and the stomach. That fact facilitates spreading of tumors cells through these lymphatics in cases of cancers of the stomach and particularly of the esophagus. Through the mediastinum, the main lymphatic drainage from the abdominal organs goes via the thoracic duct (ductus thoracicus), which drains majority of the lymph from the abdomen to the above mentioned left venous angle. OBOL:automatic Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax gland A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]. AAO:0000212 AEO:0000096 BTO:0000522 Druese EFO:0000797 EHDAA2:0003096 EHDAA:2161 EHDAA:4475 EHDAA:6522 EMAPA:18425 FBbt:00100317 FMA:86294 HAO:0000375 MAT:0000021 MIAA:0000021 OpenCyc:Mx4rwP3vyJwpEbGdrcN5Y29ycA SCTID:134358001 UBERON:0002530 UBERON:MIAA_0000021 UMLS:C1285092 Wikipedia:Gland WikipediaCategory:Glands galen:Gland glandula glandular http://upload.wikimedia.org/wikipedia/commons/a/a1/Gray1026.png ncithesaurus:Gland uberon A gland is an organ in an animal's body that synthesizes a substance for release such as hormones or breast milk, often into the bloodstream (endocrine gland) or into cavities inside the body or its outer surface (exocrine gland). A gland is an organ specialised for secretion[GO]. Wikipedia:Gland Wikipedia:Gland glandula BTO:0000522 Druese BTO:0000522 glandula tail bud (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (5) a larva or embryo with a postanal tail.[well established][VHOG] AAO:0011104 BTO:0001445 EFO:0002748 EHDAA2:0001976 EHDAA:1595 EMAPA:16580 Editor notes: See notes from UBERONREF:0000002 MAT:0000070 MIAA:0000070 Rapidly proliferating mass of cells at the caudal extremity of the embryo. Its formation is reflected in a caudal carving of the posterior portion of the archenteric canal at NF stage 22. With its further outgrowth, the postanal gut primordium becomes stretched. Its lumen is in broad communication with the hindgut at NF stage 25.[AAO] TAO:0000077 The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node. UBERON:0002533 VHOG:0000201 XAO:0000107 ZFA:0000077 end bud tail bud mesenchyme tailbud uberon ZFA:0000077 tail bud mesenchyme VHOG:0000201 BTO:0001445 end bud 2012-06-20 AAO AAO:0011104 ISBN:0815318960 OMD:tail+bud Rapidly proliferating mass of cells at the caudal extremity of the embryo. Its formation is reflected in a caudal carving of the posterior portion of the archenteric canal at NF stage 22. With its further outgrowth, the postanal gut primordium becomes stretched. Its lumen is in broad communication with the hindgut at NF stage 25.[AAO] BTO:0001445 The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node. (...) at some stage of its development, every chordate exhibits five uniquely derived characters or synapomorphies of the group: (...) (5) a larva or embryo with a postanal tail.[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.28 VHOG VHOG:0000201 http://bgee.unil.ch/ hermaphrodite gonad BTO:0000981 EFO:0000971 MAT:0000165 MIAA:0000165 UBERON:0002537 WBbt:0005178 Wikipedia:Ovotestis a gonad with both testicular and ovarian aspects[WP]. glandula hermaphroditica hermaphrodite genitalia hermaphrodite gland ovotestis uberon Wikipedia:Ovotestis a gonad with both testicular and ovarian aspects[WP]. Wikipedia:Ovotestis#In_gastropods glandula hermaphroditica GO:0040035 hermaphrodite genitalia Wikipedia:Ovotestis#In_gastropods hermaphrodite gland BTO:0000981 ovotestis hatching gland A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.[TAO] AAO:0011050 BTO:0000558 EFO:0000863 MAT:0000180 MIAA:0000180 TAO:0000026 The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> This class was created automatically from a combination of ontologies UBERON:0002538 VHOG:0000078 XAO:0000034 ZFA:0000026 frontal gland hgg uberon GO The cells of the hatching gland contain enzymes responsible for solubilization of the egg chorion, facilitating the hatching process[GO]. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> ZFIN:curator 2012-08-14 A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.[TAO] TAO TAO:0000026 ZFIN:curator VHOG:0000078 true pharyngeal arch A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down.[well established][VHOG] AAO:0010359 BTO:0001785 EFO:0000959 EHDAA:571 EMAPA:16117 GAID:1292 MAT:0000242 MESH:A16.254.160 MIAA:0000242 Numbered cranial to caudal. different in mammals. branchial arch = ZFA:0001613 pharyngeal arch 3-7. generally gill arch 1 = pharyngeal arch 3. terminology varies as to whether branchial arch follows gill or pharyngeal numbering One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo.[AAO] SCTID:308766004 TAO:0001306 UBERON:0002539 UMLS:C0080322 VHOG:0000155 Wikipedia:Pharyngeal_arch XAO:0000096 ZFA:0001306 arcus pharyngei branchial arch http://upload.wikimedia.org/wikipedia/commons/8/8b/Gray41.png http://upload.wikimedia.org/wikipedia/commons/thumb/8/8b/Gray41.png/200px-Gray41.png ncithesaurus:Pharyngeal_Arch pharyngeal arches uberon visceral arch BTO:0001785 MP:0002884 branchial arch 2012-09-17 A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down.[well established][VHOG] DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005) VHOG VHOG:0000155 http://bgee.unil.ch/ pharyngeal arches 2012-06-20 AAO AAO:0010359 NLM:branchial+arch One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo.[AAO] VHOG:0000155 true Wikipedia:Pharyngeal_arch arcus pharyngei NLM:branchial+arch One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of the embryo. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches PMID:16313389 Wikipedia:Pharyngeal_arch lateral line system A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO] AAO:0000269 AAO:0000975 EFO:0000941 MAT:0000249 MIAA:0000249 Sensory system which develops from a specialized series of dorsolateral ectodermal placodes named lateral line placodes.[AAO] TAO:0000034 The mechanosensory lateral line system is widely distributed in aquatic anamniotes. It was apparently present in the earliest vertebrates, as it has been identified in agnathans, cartilaginous fishes, bony fishes, lungfishes, the crossopterygian Latimeria, and aquatic amphibians.[well established][VHOG] UBERON:0002540 VHOG:0001243 Wikipedia:Lateral_line_system XAO:0000095 ZFA:0000034 a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes. lateral line organs lateral line stitches lateral-line organs ll relationship loss: is_formed_by lateral line receptor organ (AAO:0001001)[AAO] uberon ISBN:0471209627 ISBN:0815318960 Wikipedia:Lateral_line_system a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes. 2012-09-17 ISBN:978-0471210054 Butler AB and Hodos W, Comparative vertebrate neuroanatomy: Evolution and Adaptation (2005) p.195 The mechanosensory lateral line system is widely distributed in aquatic anamniotes. It was apparently present in the earliest vertebrates, as it has been identified in agnathans, cartilaginous fishes, bony fishes, lungfishes, the crossopterygian Latimeria, and aquatic amphibians.[well established][VHOG] VHOG VHOG:0001243 http://bgee.unil.ch/ VHOG:0001243 VHOG:0001243 lateral line organs http://tolweb.org/Amniota 2012-08-14 A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO] TAO TAO:0000034 ZFIN:curator 2012-06-20 AAO AAO:0000975 AAO:EJS Sensory system which develops from a specialized series of dorsolateral ectodermal placodes named lateral line placodes.[AAO] 2012-06-20 AAO AAO:0000975 relationship loss: is_formed_by lateral line receptor organ (AAO:0001001)[AAO] germ ring AAO:0000211 EFO:0003427 Embryonic structure that forms as a thickened annulus at the blastoderm rim. The germ ring is thickened because it is the involuting margin of the blastoderm[ZFIN:ZDB-PUB-961014-576]. MAT:0000255 MIAA:0000255 TAO:0000111 The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting of two layers in addition to the EVL, the epiblast and the hypoblast. The germ ring is formed by the involution of the blastoderm back upon itself[ZFA] UBERON:0002541 ZFA:0000111 todo - check timing of appearance and disappearance - check relationship with primitive streak. he blastopore lips in amphibians appear to have the equivalent function of the germ ring in zebrafish (ES) uberon Embryonic structure that forms as a thickened annulus at the blastoderm rim. The germ ring is thickened because it is the involuting margin of the blastoderm[ZFIN:ZDB-PUB-961014-576]. ZFIN:ZDB-PUB-961014-576 The thickend rim of the blastoderm evident during late blastula and gastrula stages[FishBase]. Embryonic structure which is a uniform thickened annulus at the blastoderm margin, consisting of two layers in addition to the EVL, the epiblast and the hypoblast. The germ ring is formed by the involution of the blastoderm back upon itself[ZFA] http://www.fishbase.org/glossary/Glossary.php?q=germ%20ring scale A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function. BTO:0005055 EFO:0000960 HAO:0000907 MAT:0000257 MIAA:0000257 OpenCyc:Mx4rvVi9M5wpEbGdrcN5Y29ycA UBERON:0002542 Usage notes: currently defined in a very inclusive fashion - may be obsoleted and replaced by more specific classes in future versions. The TAO, VSAO amd ZFA classes by this name are classified as 'dermal scales'. Can also be classified by composition - e.g. pangolin keratin scales. Wikipedia:Scale_(zoology) scales uberon scales A small rigid plate that grows out of an animal's skin to provide protection. In lepidopteran (butterfly and moth) species, scales are plates on the surface of the insect wing, and provide coloration. Scales are quite common and have evolved multiple times with varying structure and function. Wikipedia:Scale_(zoology) digit AAO:0011126 EFO:0000881 EMAPA:32725 FMA:85518 MA:0000690 MAT:0000285 MIAA:0000285 OpenCyc:Mx4rvzLD_ZwpEbGdrcN5Y29ycA Our reinterpretation of the distal fin endoskeleton of Panderichthys removes the final piece of evidence supporting the formerly popular hypothesis that tetrapod digits are wholly new structures without homologues in sarcopterygian fish fins. This hypothesis, which was based partly on the complete absence of plausible digit homologues in Panderichthys (then the closest known relative of tetrapods), has already been called into question by the discovery of digit-like radials in Tiktaalik and the fact that Hox gene expression patterns closely resembling those associated with digit formation in tetrapods occur in the distal fin skeletons of paddlefish and Australian lungfish. Our new data show that Panderichthys is not an anomaly: like Tiktaalik and other fish members of the Tetrapodomorpha, it has distal radials that can be interpreted as digit homologues.[well established][VHOG] SCTID:361367007 UBERON:0002544 UMLS:C0582802 VHOG:0000944 Wikipedia:Digit_(anatomy) XAO:0003032 digital galen:Digit limb digit ncithesaurus:Digit one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates[WP]. todo homology ZFA:0001588-pectoral fin distal radial. Note: This term is a GAT in FMA. Note: we elect to place a strict taxon constraint on this class - this is controversial, and may be weakened later on - see [Wikipedia:Digit_(anatomy)#Evolution]. AO notes: EMAPA mapping from TH uberon 2012-09-17 DOI:10.1038/nature07339 Boisvert CA, Mark-Kurik E and Ahlberg PE, The pectoral fin of Panderichthys and the origin of digits. Nature (2008) Our reinterpretation of the distal fin endoskeleton of Panderichthys removes the final piece of evidence supporting the formerly popular hypothesis that tetrapod digits are wholly new structures without homologues in sarcopterygian fish fins. This hypothesis, which was based partly on the complete absence of plausible digit homologues in Panderichthys (then the closest known relative of tetrapods), has already been called into question by the discovery of digit-like radials in Tiktaalik and the fact that Hox gene expression patterns closely resembling those associated with digit formation in tetrapods occur in the distal fin skeletons of paddlefish and Australian lungfish. Our new data show that Panderichthys is not an anomaly: like Tiktaalik and other fish members of the Tetrapodomorpha, it has distal radials that can be interpreted as digit homologues.[well established][VHOG] VHOG VHOG:0000944 http://bgee.unil.ch/ VHOG:0000944 Wikipedia:Digit_(anatomy) one of several most distal parts of a limb, such as fingers or toes, present in many vertebrates[WP]. MA:0000690 limb digit postcentral gyrus BTO:0004354 EFO:0001383 FMA:61896 NIF_GrossAnatomy:birnlex_1070 SCTID:279167001 The lateral postcentral gyrus is a prominent structure in the parietal lobe of the human brain and an important landmark. It was initially defined from surface stimulation studies of Penfield, and parallel surface potential studies of Bard, Woolsey, and Marshall. Although initially defined to be roughly the same as Brodmann areas 3, 1 and 2, more recent work by Kaas has suggested that for homogeny with other sensory fields only area 3 should be referred to as 'primary somatosensory cortex', as it received the bulk of the thalamocortical projection from the sensory input fields. [WP,unvetted]. UBERON:0002581 UMLS:C0152302 Wikipedia:Postcentral_gyrus http://upload.wikimedia.org/wikipedia/commons/6/66/Postcentral_gyrus.png http://upload.wikimedia.org/wikipedia/commons/thumb/6/66/Postcentral_gyrus.png/200px-Postcentral_gyrus.png ncithesaurus:Postcentral_Gyrus postcentral convolution posterior central gyrus postrolandic gyrus uberon FMA:61896 posterior central gyrus FMA:61896 postcentral convolution FMA:61896 postrolandic gyrus The lateral postcentral gyrus is a prominent structure in the parietal lobe of the human brain and an important landmark. It was initially defined from surface stimulation studies of Penfield, and parallel surface potential studies of Bard, Woolsey, and Marshall. Although initially defined to be roughly the same as Brodmann areas 3, 1 and 2, more recent work by Kaas has suggested that for homogeny with other sensory fields only area 3 should be referred to as 'primary somatosensory cortex', as it received the bulk of the thalamocortical projection from the sensory input fields. [WP,unvetted]. Wikipedia:Postcentral_gyrus cerebral peduncle BM:CP BTO:0004676 EFO:0001987 FMA:62394 NIF_GrossAnatomy:birnlex_1202 SCTID:362391000 The cerebral peduncle, by most classifications, is everything in the mesencephalon except the tectum. The region includes the midbrain tegmentum, crus cerebri, substantia nigra and pretectum. By this definition, the cerebral peduncles are also known as the basis pedunculi, while the large ventral bundle of efferent fibers is referred to as the crus cerebri or the pes pedunculi There are numerous nerve tracts located within this section of the brainstem. Of note, in the cerebral peduncular loop fibers from motor areas of the brain project to the cerebral peduncle and then project to various thalamic nuclei. In as much as the peduncles are an anatomic landmark, for details regarding the function of this area interested readers are referred to the individual referenced articles. On a broad scale, though, this area contains many nerve tracts conveying motor information to and from the brain to the rest of the body. Important fibers running through the cerebral peduncles include the corticospinal tract and the corticobulbar tract, among others. [WP,unvetted]. UBERON:0002623 UMLS:C0007793 Wikipedia:Cerebral_peduncle cerebral peduncle http://upload.wikimedia.org/wikipedia/commons/e/e9/Gray689.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/e9/Gray689.png/200px-Gray689.png ncithesaurus:Cerebral_Peduncle peduncle of midbrain pedunculus cerebri uberon The cerebral peduncle, by most classifications, is everything in the mesencephalon except the tectum. The region includes the midbrain tegmentum, crus cerebri, substantia nigra and pretectum. By this definition, the cerebral peduncles are also known as the basis pedunculi, while the large ventral bundle of efferent fibers is referred to as the crus cerebri or the pes pedunculi There are numerous nerve tracts located within this section of the brainstem. Of note, in the cerebral peduncular loop fibers from motor areas of the brain project to the cerebral peduncle and then project to various thalamic nuclei. In as much as the peduncles are an anatomic landmark, for details regarding the function of this area interested readers are referred to the individual referenced articles. On a broad scale, though, this area contains many nerve tracts conveying motor information to and from the brain to the rest of the body. Important fibers running through the cerebral peduncles include the corticospinal tract and the corticobulbar tract, among others. [WP,unvetted]. Wikipedia:Cerebral_peduncle FMA:62394 peduncle of midbrain FMA:62394 cerebral peduncle FMA:62394 FMA:TA pedunculus cerebri Wikipedia:Cerebral_peduncle pedunculus cerebri superior frontal gyrus BTO:0004836 EFO:0001991 FMA:61857 NIF_GrossAnatomy:birnlex_1303 SCTID:279166005 The superior frontal gyrus makes up about one-third of the frontal lobe of the human brain. It is bounded laterally by the superior frontal sulcus. The superior frontal gyrus, like the inferior frontal gyrus and the middle frontal gyrus, is more of a region than a true gyrus. [WP,unvetted]. UBERON:0002661 UMLS:C0152296 Wikipedia:Superior_frontal_gyrus gyrus frontalis superior http://upload.wikimedia.org/wikipedia/commons/5/50/Superior_frontal_gyrus.png http://upload.wikimedia.org/wikipedia/commons/thumb/5/50/Superior_frontal_gyrus.png/200px-Superior_frontal_gyrus.png marginal gyrus ncithesaurus:Superior_Frontal_Convolution superior frontal convolution uberon Wikipedia:Superior_frontal_gyrus gyrus frontalis superior The superior frontal gyrus makes up about one-third of the frontal lobe of the human brain. It is bounded laterally by the superior frontal sulcus. The superior frontal gyrus, like the inferior frontal gyrus and the middle frontal gyrus, is more of a region than a true gyrus. [WP,unvetted]. Wikipedia:Superior_frontal_gyrus FMA:61857 superior frontal convolution FMA:61857 marginal gyrus ventral tegmental area ABA:VTA BM:MB-VTA EFO:0001935 FMA:72438 GAID:587 MESH:A08.186.211.132.659.822.820 NIF_GrossAnatomy:birnlex_1415 The ventral tegmentum (tegmentum is Latin for covering), better known as the ventral tegmental area (VTA), is a group of neurons located close to the midline on the floor of the midbrain. The VTA, the origin of dopaminergic cell bodies that comprise the mesocorticolimbic dopamine system, is widely implicated in the drug and natural reward circuitry of the brain, cognition, motivation, drug addiction, and several psychiatric disorders. The VTA contains neurons that project to numerous areas of the brain, from the prefrontal cortex (PFC) to the caudal brainstem and everywhere in between. [WP,unvetted]. UBERON:0002691 Wikipedia:Ventral_tegmental_area http://upload.wikimedia.org/wikipedia/commons/b/b6/Gray712.png http://upload.wikimedia.org/wikipedia/commons/thumb/b/b6/Gray712.png/200px-Gray712.png uberon ventral tegmental area of tsai ventral tegmental nucleus (tsai) ventral tegmental nucleus of tsai ABA ABA The ventral tegmentum (tegmentum is Latin for covering), better known as the ventral tegmental area (VTA), is a group of neurons located close to the midline on the floor of the midbrain. The VTA, the origin of dopaminergic cell bodies that comprise the mesocorticolimbic dopamine system, is widely implicated in the drug and natural reward circuitry of the brain, cognition, motivation, drug addiction, and several psychiatric disorders. The VTA contains neurons that project to numerous areas of the brain, from the prefrontal cortex (PFC) to the caudal brainstem and everywhere in between. [WP,unvetted]. Wikipedia:Ventral_tegmental_area ABA ABA ABA ABA ABA ABA ABA ABA precentral gyrus EFO:0001373 FMA:61894 NIF_GrossAnatomy:birnlex_1455 The primary motor cortex (or M1) is a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). [WP,unvetted]. UBERON:0002703 UMLS:C0152299 Wikipedia:Precentral_gyrus http://upload.wikimedia.org/wikipedia/commons/thumb/e/eb/Ba4.png/200px-Ba4.png ncithesaurus:Precentral_Gyrus precentral convolution prerolandic gyrus uberon The primary motor cortex (or M1) is a brain region that in humans is located in the posterior portion of the frontal lobe. It works in association with pre-motor areas to plan and execute movements. M1 contains large neurons known as Betz cells which send long axons down the spinal cord to synapse onto alpha motor neurons which connect to the muscles. Pre-motor areas are involved in planning actions (in concert with the basal ganglia) and refining movements based upon sensory input (this requires the cerebellum). [WP,unvetted]. Wikipedia:Precentral_gyrus FMA:61894 precentral convolution FMA:61894 prerolandic gyrus entorhinal area ABA:ENT BM:Tel-Cx-ENT BTO:0002650 Brodmann's area 28 Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK). EFO:0001920 FMA:72356 GAID:636 MESH:A08.186.211.577.710.225 NIF_GrossAnatomy:birnlex_1508 SCTID:369099007 UBERON:0002728 UMLS:C0175196 Wikipedia:Entorhinal_cortex entorhinal cortex http://upload.wikimedia.org/wikipedia/commons/f/f8/Gray-Brodman-Entorhinal_Cortex_EC_.png ncithesaurus:Entorhinal_Cortex todo - check area vs complex. ABA:ENT this is part of the hippocampal formation via retrohippocampal region uberon NIF_GrossAnatomy:birnlex_1508 entorhinal cortex BTO:0002650 Brodmann's area 28 ABA Component of the temporal lobe on the mesial surface. The rostral and caudal boundaries of the entorhinal cortex are the rostral end of the collateral sulcus and the caudal end of the amygdala respectively. The medial boundary is the medial aspect of the temporal lobe and the lateral boundary is the collateral sulcus. (DK). NIF_GrossAnatomy:birnlex_1508 Wikipedia:Entorhinal_cortex ABA ABA superior temporal gyrus A gyrus (plural gyri) is a bump or ridge on the surface of the brain. The superior temporal gyrus is one of three (sometimes two) gyri in the temporal lobe of the human brain. The superior temporal gyrus is bounded by: the lateral sulcus above; the superior temporal sulcus (not always present or visible) below; an imaginary line drawn from the preoccipital notch to the lateral sulcus posteriorly. The superior temporal gyrus contains several important structures of the brain, including: Brodmann areas 41 and 42, marking the location of the primary auditory cortex, the cortical region responsible for the sensation of sound; Wernicke's area, Brodmann 22p, an important region for the processing of speech so that it can be understood as language. [WP,unvetted]. BM:Tel-STG EFO:0001944 FMA:61905 NIF_GrossAnatomy:birnlex_1648 SCTID:362345008 UBERON:0002769 Wikipedia:Superior_temporal_gyrus gyrus temporalis superior http://upload.wikimedia.org/wikipedia/commons/1/1d/Superior_temporal_gyrus.png http://upload.wikimedia.org/wikipedia/commons/thumb/1/1d/Superior_temporal_gyrus.png/200px-Superior_temporal_gyrus.png ncithesaurus:Superior_Temporal_Gyrus uberon A gyrus (plural gyri) is a bump or ridge on the surface of the brain. The superior temporal gyrus is one of three (sometimes two) gyri in the temporal lobe of the human brain. The superior temporal gyrus is bounded by: the lateral sulcus above; the superior temporal sulcus (not always present or visible) below; an imaginary line drawn from the preoccipital notch to the lateral sulcus posteriorly. The superior temporal gyrus contains several important structures of the brain, including: Brodmann areas 41 and 42, marking the location of the primary auditory cortex, the cortical region responsible for the sensation of sound; Wernicke's area, Brodmann 22p, an important region for the processing of speech so that it can be understood as language. [WP,unvetted]. Wikipedia:Superior_temporal_gyrus Wikipedia:Superior_temporal_gyrus gyrus temporalis superior NIF_GrossAnatomy:birnlex_1648 gyrus temporalis superior middle temporal gyrus EFO:0002466 FMA:61906 Middle temporal gyrus is a gyrus in the brain on the Temporal lobe. It is located between the superior temporal gyrus and inferior temporal gyrus. Its exact function is unknown, but it has been connected with processes as different as contemplating distance, recognition of known faces, and accessing word meaning while reading. [WP,unvetted]. NIF_GrossAnatomy:birnlex_1653 SCTID:279190006 UBERON:0002771 Wikipedia:Middle_temporal_gyrus gyrus temporalis medius http://upload.wikimedia.org/wikipedia/commons/4/49/WOROI_60_loc.png http://upload.wikimedia.org/wikipedia/commons/thumb/4/49/WOROI_60_loc.png/200px-WOROI_60_loc.png intermediate temporal gyrus medial temporal gyrus ncithesaurus:Middle_Temporal_Gyrus uberon NIF_GrossAnatomy:birnlex_1653 gyrus temporalis medius Middle temporal gyrus is a gyrus in the brain on the Temporal lobe. It is located between the superior temporal gyrus and inferior temporal gyrus. Its exact function is unknown, but it has been connected with processes as different as contemplating distance, recognition of known faces, and accessing word meaning while reading. [WP,unvetted]. Wikipedia:Middle_temporal_gyrus FMA:61906 intermediate temporal gyrus Wikipedia:Middle_temporal_gyrus medial temporal gyrus terminal nerve EFO:0003678 NIF_GrossAnatomy:birnlex_4044 PMID:2286018 state: 'The presence of an additional cranial nerve (the nervus terminalis or cranial nerve zero) is well documented in many non-human vertebrate species. However, its existence in the adult human has been disputed. The present study focused on the structure and incidence of this nerve in the adult human brain. The nerve was examined post-mortem in 10 adult brains using dissection microscopy, light microscopy, transmission electron microscopy, and immunohistochemistry. In all specimens, the nervus terminalis was identified bilaterally as a microscopic plexus of unmyelinated peripheral nerve fascicles in the subarachnoid space covering the gyrus rectus of the orbital surface of the frontal lobes. The plexus appeared in the region of the cribriform plate of the ethmoid and coursed posteriorly to the vicinity of the olfactory trigone, medial olfactory gyrus, and lamina terminalis. We conclude that the terminal nerve is a common finding in the adult human brain, confirming early light microscopic reports.' TAO:0001356 The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest. The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest. Whitlock 2004. Also see Grens, Greenwood and Fernald, Brain Behav Evol 2005; 66(1):1-9.[TAO] UBERON:0002924 Wikipedia:Terminal_nerve ZFA:0001356 cranial nerve 0 cranial nerve zero nervus terminalis uberon Wikipedia:Terminal_nerve cranial nerve zero ZFA:0001356 nervus terminalis PMID:15821344 The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest. Wikipedia:Terminal_nerve ZFIN:ZDB-PUB-041202-1 2012-08-14 TAO TAO:0001356 The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest. Whitlock 2004. Also see Grens, Greenwood and Fernald, Brain Behav Evol 2005; 66(1):1-9.[TAO] ZFIN:curator Wikipedia:Terminal_nerve cranial nerve 0 cingulate cortex BM:Tel-Cx-Cg BTO:0003975 EFO:0000343 MA:0000904 NIF_GrossAnatomy:birnlex_934 The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted]. UBERON:0003027 UMLS:C0598179 Wikipedia:Cingulate_cortex gyrus cingulatus gyrus cinguli http://upload.wikimedia.org/wikipedia/commons/d/dc/Gray727_cingulate_gyrus.png http://upload.wikimedia.org/wikipedia/commons/thumb/d/dc/Gray727_cingulate_gyrus.png/200px-Gray727_cingulate_gyrus.png ncithesaurus:Cingulate_Cortex uberon gyrus cinguli Wikipedia:Cingulate_cortex gyrus cingulatus The cingulate cortex is a part of the brain situated in the medial aspect of the cortex. It is extended from the corpus callosum below to the cingulate sulcus above, at least anteriorly. [WP,unvetted]. Wikipedia:Cingulate_cortex olfactory placode A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. AAO:0011076 EFO:0003420 EHDAA2:0001232 EHDAA:1504 EMAPA:16543 Olfactory placodes are the only ectodermal placodes to produce glia, a cell type typically derived from neural crest // Note that NBK53171 classifies this as non-neurogenic TAO:0000048 UBERON:0003050 VHOG:0000186 We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG] Wikipedia:Nasal_placode XAO:0000005 ZFA:0000048 nasal I placode nasal placode olfactory placodes placoda nasalis placoda olfactoria uberon 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000186 We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG] http://bgee.unil.ch/ placoda nasalis placoda olfactoria VHOG:0000186 A thick plate of cells derived from the neural ectoderm in the head region of the embryo that develops into the olfactory region of the nasal cavity. Wikipedia:Nasal_placode XAO:0000005 olfactory placodes ventricular zone AAO:0011112 BTO:0003654 EFO:0003624 MA:0000819 Proliferative region that is part of the ventricular system. Proliferative zone in the region of the neural tube adjacent to the lumen. TAO:0001083 There are two primary regions that are thought to give rise to neurons that make up the cerebellum. The first region is the ventricular zone (the roof of the fourth ventricle). This area produces Purkinje cells and deep cerebellar nuclear neurons[BTO:0003654]. UBERON:0003053 VHOG:0001224 VZ XAO:0000021 ZFA:0001083 brain ventricular zone in BTO this is restricted to the 4th ventricle - however this class also represents the early ventricular zone as well as its post-natal remnants. The MA class is named 'ventricular zone of brain' and is presumably restricted to the post-natal zone uberon ventricular zone of brain Proliferative region that is part of the ventricular system. ZFA:0001083 BTO:0003654 There are two primary regions that are thought to give rise to neurons that make up the cerebellum. The first region is the ventricular zone (the roof of the fourth ventricle). This area produces Purkinje cells and deep cerebellar nuclear neurons[BTO:0003654]. MA:0000819 brain ventricular zone Proliferative zone in the region of the neural tube adjacent to the lumen. http://www.dartmouth.edu/~rswenson/NeuroSci/chapter_4.html MA VHOG:0001224 hypochord A transient rod-like structure which is endodermally derived and located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Eriksson and Lofberg, 2000.[TAO] AAO:0000733 EFO:0003475 In other words, we identified variations in gene expression patterns that may contribute to a molecular basis of evolutionary variation of axial structures between Teleostei and Mammalia in the determination of body axis. As already mentioned, one such difference is illustrated by the hypochord present in lower vertebrates but absent in higher animals. Perhaps, Tbx-b and Tbx-c are involved in the mechanisms underlying the formation of this organ that were lost during later evolution leading to the disappearance of the hypochord itself, similarly to other organs, such as the lateral line.[uncertain][VHOG] TAO:0000031 The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO] UBERON:0003058 Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived[ZFA] Unsegmented ventral structure in the caudal region of anuran larvae; near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle.[AAO] VHOG:0000081 XAO:0000056 ZFA:0000031 subnotochordal rod uberon VHOG:0000081 2012-09-17 In other words, we identified variations in gene expression patterns that may contribute to a molecular basis of evolutionary variation of axial structures between Teleostei and Mammalia in the determination of body axis. As already mentioned, one such difference is illustrated by the hypochord present in lower vertebrates but absent in higher animals. Perhaps, Tbx-b and Tbx-c are involved in the mechanisms underlying the formation of this organ that were lost during later evolution leading to the disappearance of the hypochord itself, similarly to other organs, such as the lateral line.[uncertain][VHOG] PMID:11548409 Korzh VP, T-box genes and developmental decisions that cells make. Russian Journal of Developmental Biology (2001) VHOG VHOG:0000081 http://bgee.unil.ch/ XAO GO:0055016 PMID:10648245 subnotochordal rod 2012-06-20 AAO AAO:0000733 AAO:Pugener_2002 Unsegmented ventral structure in the caudal region of anuran larvae; near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle.[AAO] AAO:0000733 GO:0055016 ISBN:0815318960 PMID:10648245 The hypochord is a transient rod-like structure in the embryos of fish, lampreys and amphibians that is located immediately ventral to the notochord. The hypochord may play a role in positioning the dorsal aorta[GO]. near metamorphosis the hypochord fuses to the coccyx, thereby forming the urostyle[AAO] 2012-08-14 A transient rod-like structure which is endodermally derived and located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Eriksson and Lofberg, 2000.[TAO] TAO TAO:0000031 ZFIN:curator presomitic mesoderm AAO:0011086 EFO:0001982 It is reasonable to assume that the proximate invertebrate ancestor of the vertebrates had an amphioxus-like tail bud in its larval stage. This archetypal tail bud would have (...) (3) lacked any component of mesenchyme cells, (4) budded off new mesodermal segments directly, without any intervening zone of presomitic mesoderm (...). Then, early in vertebrate evolution, epithelium-to-mesenchyme interconversions (and the gene networks for effecting them) became prominent features of development. (...) In any case, conspicuous mesenchymal components tended to be added to the vertebrate tail bud itself. In addition, a mesenchymatous presomitic mesoderm (not a part of the tail bud proper) came to intervene between the tail bud and the forming somites.[well established][VHOG] PSM TAO:0000279 UBERON:0003059 Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[TAO] VHOG:0000559 XAO:0000057 ZFA:0000279 presumptive somite mesoderm segmental plate somitogenic mesoderm uberon unsegmented mesenchyme unsegmented paraxial mesoderm VHOG:0000559 definitional Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> ZFIN:curator VHOG:0000559 unsegmented mesenchyme https://orcid.org/0000-0002-6601-2165 unsegmented paraxial mesoderm 2012-09-17 DOI:10.1006/dbio.2001.0460 Schubert M, Holland LZ, Dale Stokes M and Holland ND, Three Amphoxius Wnt Genes (AmphiWnt3, AmphiWnt5, and AmphiWnt6) Associated with the Tail Bud: the Evolution of Somitogenesis in Chordates. Developmental Biology (2001) It is reasonable to assume that the proximate invertebrate ancestor of the vertebrates had an amphioxus-like tail bud in its larval stage. This archetypal tail bud would have (...) (3) lacked any component of mesenchyme cells, (4) budded off new mesodermal segments directly, without any intervening zone of presomitic mesoderm (...). Then, early in vertebrate evolution, epithelium-to-mesenchyme interconversions (and the gene networks for effecting them) became prominent features of development. (...) In any case, conspicuous mesenchymal components tended to be added to the vertebrate tail bud itself. In addition, a mesenchymatous presomitic mesoderm (not a part of the tail bud proper) came to intervene between the tail bud and the forming somites.[well established][VHOG] VHOG VHOG:0000559 http://bgee.unil.ch/ 2012-08-14 TAO TAO:0000279 Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[TAO] ZFIN:curator blood island AAO:0011006 AO notes: EHDAA2 distinguishes 3 types, but does not have a superclass. The VHOG class may refer to yolk sac Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. EFO:0003489 EHDAA:207 Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension. Kimmel et al, 1995.[TAO] Region located on the ventral surface of the developing embryo that is a site of hematopoiesis and that is analogous to the yolk sac blood islands of higher vertebrates.[AAO] Small clusters of mesodermal cells called blood islands mark the embryonic debut of the cardiovascular system (in vertebrates) (reference 1); In birds and mammals, primitive hemangioblasts are extraembryonic, populating the yolk sac as the so-called blood islands (reference 2).[well established][VHOG] TAO:0000094 TE:E5.11.2.0.0.0.4 UBERON:0003061 UMLS:C1511224 VBI VHOG:0000085 Wikipedia:Blood_island_of_umbilical_vesicle XAO:0000067 ZFA:0000094 blood islands caudal hematopoietic tissue ncithesaurus:Blood_Island posterior ICM posterior blood island relationship loss: part_of intermediate cell mass of mesoderm (TAO:0000033)[TAO] uberon ventral blood island ventral lateral plate mesoderm 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.450, DOI:10.1146/annurev.cellbio.22.010605.093317 Hartenstein V, Blood cells and blood cell development in the animal kingdom. Annual Review of Cell and Developmental Biology (2006) Small clusters of mesodermal cells called blood islands mark the embryonic debut of the cardiovascular system (in vertebrates) (reference 1); In birds and mammals, primitive hemangioblasts are extraembryonic, populating the yolk sac as the so-called blood islands (reference 2).[well established][VHOG] VHOG VHOG:0000085 http://bgee.unil.ch/ Blood islands are structures in the developing embryo which lead to many different parts of the circulatory system. They primarily derive from plexuses formed from angioblasts. Within them, vacuoles appear through liquefaction of the central part of the syncytium into plasma. The lumen of the blood vessels thus formed is probably intracellular. The flattened cells at the periphery form the endothelium. The nucleated red blood corpuscles develop either from small masses of the original angioblast left attached to the inner wall of the lumen or directly from the flat endothelial cells. In either case the syncytial mass thus formed projects from and is attached to the wall of the vessel. Such a mass is known as a blood island and hemoglobin gradually accumulates within it. Later the cells on the surface round up, giving the mass a mulberry-like appearance. Then the red blood cells break loose and are carried away in the plasma. Such free blood cells continue to divide. Blood islands have been seen in the area vasculosa in the omphalomesenteric vein and arteries, and in the dorsal aorta[WP, unvetted]. Wikipedia:Blood_island_of_umbilical_vesicle blood islands 2012-06-20 AAO AAO:0011006 AAO:EJS Region located on the ventral surface of the developing embryo that is a site of hematopoiesis and that is analogous to the yolk sac blood islands of higher vertebrates.[AAO] VHOG:0000085 2012-08-14 TAO TAO:0000094 relationship loss: part_of intermediate cell mass of mesoderm (TAO:0000033)[TAO] 2012-08-14 Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension. Kimmel et al, 1995.[TAO] TAO TAO:0000094 ZFIN:curator ciliary marginal zone AAO:0010342 CMZ EFO:0003668 Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050427-5'>Wehman et al, 2005.</a> Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. Wehman et al, 2005.[TAO] TAO:0001289 The retina of all vertebrates develops via similar mechanisms. Toward the end of retinal histogenesis, proliferating progenitors and newly generated cells are confined to peripheral regions of the retina. In fish and amphibians, this region is maintained after embryonic development and becomes the CMZ (ciliary margin zone). A CMZ exists in birds but compared to that of fish and amphibians this region produces much less new retina as the globe of the eye expands postnatally. At least some of the molecular mechanisms that regulate the addition of new cells in this zone appear to have been conserved from fish to birds.[well established][VHOG] This class was created automatically from a combination of ontologies UBERON:0003065 VHOG:0000088 XAO:0000086 ZFA:0001289 circumferential germinal zone peripheral growth zone uberon ZFA:0001289 peripheral growth zone Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-050427-5'>Wehman et al, 2005.</a> ZFIN:curator 2012-08-14 Region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. Wehman et al, 2005.[TAO] TAO TAO:0001289 ZFIN:curator 2012-09-17 DOI:10.1159/000057571 Reh TA, Fischer AJ, Stem cells in the vertebrate retina. Brain Behav Evol (2001) The retina of all vertebrates develops via similar mechanisms. Toward the end of retinal histogenesis, proliferating progenitors and newly generated cells are confined to peripheral regions of the retina. In fish and amphibians, this region is maintained after embryonic development and becomes the CMZ (ciliary margin zone). A CMZ exists in birds but compared to that of fish and amphibians this region produces much less new retina as the globe of the eye expands postnatally. At least some of the molecular mechanisms that regulate the addition of new cells in this zone appear to have been conserved from fish to birds.[well established][VHOG] VHOG VHOG:0000088 http://bgee.unil.ch/ VHOG:0000088 axial mesoderm AAO:0011017 EFO:0003647 TAO:0001204 The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. The portion of the mesoderm underlying the midline of the embryo. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG] UBERON:0003068 VHOG:0000107 Wikipedia:Chordamesoderm XAO:0000205 ZFA:0001204 chordamesoderm http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png http://upload.wikimedia.org/wikipedia/commons/thumb/6/64/Gray19_with_color.png/200px-Gray19_with_color.png uberon Wikipedia:Chordamesoderm chordamesoderm GO:0048318 The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord. Wikipedia:Chordamesoderm 2012-09-17 The portion of the mesoderm underlying the midline of the embryo. [Gastrulation:_From_cells_to_embryo_(2004)_Cold_Spring_Harbor, Glossary_XV, New_York:_Cold_Spring_Harbor_Laboratory_Press, Stern_CD][VHOG] VHOG VHOG:0000107 http://bgee.unil.ch/ VHOG:0000107 otic placode A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK] AAO:0011079 EFO:0003429 EHDAA2:0001339 EHDAA:506 EMAPA:16195 Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. Kimmel et al, 1995. (Also see Anatomical Atlas entry for ear by T. Whitfield.)[TAO] TAO:0000138 UBERON:0003069 UMLS:C1518677 VHOG:0000235 We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG] Wikipedia:Otic_placode With the exception of the pigment cells of the stria vascularis and the secretory epithelium of the cochlea, which are of neural crest origin, all compo- nents of the inner ear derive from the otic placode. In most species the thickening of the ectoderm into a placode occurs in a region adjacent to rhombomere 5 (reviewed in Ohyama et al., 2007), while in amphibians the otic placode is centered onto rhombomere 4 (Ruiz i Altaba and Jessell, 1991).[NBK53175] XAO:0000223 ZFA:0000138 auditory placode ear placode ear/otic placode ncithesaurus:Otic_Placodes octaval VIII placode octaval placode placoda otica uberon 2012-08-14 Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. Kimmel et al, 1995. (Also see Anatomical Atlas entry for ear by T. Whitfield.)[TAO] TAO TAO:0000138 ZFIN:curator VHOG:0000235 placoda otica ISBN10:0471888893 octaval placode 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000235 We conclude this section by listing some of the many synapomorphies of craniates, including (...) (2) neurogenic placodes (...).[well established][VHOG] http://bgee.unil.ch/ ISBN10:0471888893 octaval VIII placode A cranial placode which, once specified, invaginates to form an otic cup, which eventually separates from the surface ectoderm to form the otic vesicle or otocyst, a rounded structure without appar- ent polarity. As the otic placode invaginates into a cup neuroblasts delaminate from the anterior ventral aspect of the otic epithelium to give rise to neurons of the vestibulocochlear (statoacoustic) ganglion of cranial nerve VIII[NBK] NBK:NBK53175 Wikipedia:Otic_placode trigeminal placode EFO:0003433 EHDAA2:0004209 Fig9-5 of ISBN10:0471888893 calls this the profundus placode; XAO says 'profundal and the trigeminal ganglia are separate distally but fused at their proximal end...' TAO:0000162 The dorsolateral placodes (trigeminal and vestibular) develop from ectoderm lateral to the brain (...). In summary, the collective term 'placodes' refers to some rather different structures, probably with different evolutionary origins. Some sensory placodes (at least the otic and olfactory) may have homologues in basal chordates. Even if this is so, it is apparent that they were elaborated considerably during early vertebrate evolution. Epibranchial and dorsolateral placodes appear to be new; we infer that their origin depended on the evolution of specific inductive signals.[well established][VHOG] The ectodermal precursor of the trigeminal ganglion. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24.[XAO] The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period. Kimmel et al, 1995.[TAO] The ectodermal rudiment of the trigeminal ganglion. UBERON:0003070 VHOG:0000109 XAO:0000225 ZFA:0000162 profundus V placode profundus placode trigeminal V placode uberon VHOG:0000109 2012-08-14 TAO TAO:0000162 The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period. Kimmel et al, 1995.[TAO] ZFIN:curator ISBN10:0471888893 profundus V placode The ectodermal rudiment of the trigeminal ganglion. VHOG:0000109 The ectodermal precursor of the trigeminal ganglion. The profundal and the trigeminal ganglia are separate distally but fused at their proximal end as they condense around NF stage 24.[XAO] XAO 2012-09-17 DOI:10.1073/pnas.97.9.4449 Shimeld SM and Holland PW. Vertebrate innovations. PNAS (2000) The dorsolateral placodes (trigeminal and vestibular) develop from ectoderm lateral to the brain (...). In summary, the collective term 'placodes' refers to some rather different structures, probably with different evolutionary origins. Some sensory placodes (at least the otic and olfactory) may have homologues in basal chordates. Even if this is so, it is apparent that they were elaborated considerably during early vertebrate evolution. Epibranchial and dorsolateral placodes appear to be new; we infer that their origin depended on the evolution of specific inductive signals.[well established][VHOG] VHOG VHOG:0000109 http://bgee.unil.ch/ ISBN10:0471888893 profundus placode lens placode (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The optic cup induces the overlying surface ectoderm first to thicken as a lens placode and then to invaginate and form a lens vesicle that differentiates into the lens.[well established][VHOG] A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. AAO:0011055 Classical transplantation experiments using amphibian embryos suggested that the optic vesicle is the source of lens-inducing signals sufficient to generate lens tissues in competent ectoderm (reviewed in Grainger et al., 1996). More recent findings suggest a multistep model for lens induction. There is now good evidence that lens specification occurs at the neurula stage, before the optic vesicle contact the surface ectoderm, and that neural crest cell migration in the frontonasal region is required to restrict the position of the lens placode (Bailey et al., 2006)[NBK53175] EFO:0003494 EHDAA2:0000982 EHDAA:2908 EMAPA:16672 Ectodermal primordium of the lens of the eye. Kimmel et al, 1995.[TAO] TAO:0000122 UBERON:0003073 UMLS:C1517770 VHOG:0000166 Wikipedia:Lens_placode XAO:0000240 ZFA:0000122 http://upload.wikimedia.org/wikipedia/commons/2/2f/Gray864.png ncithesaurus:Lens_Placodes placoda lentis uberon A thickened portion of ectoderm which serves as the precursor to the lens. SOX2 and Pou2f1 are involved in its development[WP]. Wikipedia:Lens_placode ZFIN:curator Wikipedia:Lens_placode placoda lentis VHOG:0000166 2012-08-14 Ectodermal primordium of the lens of the eye. Kimmel et al, 1995.[TAO] TAO TAO:0000122 ZFIN:curator (...) an essentially similar sequence of events occurs during the embryonic development of the vertebrate eye. The eye initially develops as a single median evagination of the diencephalon that soon bifurcates to form the paired optic vesicles. As each optic vesicle grows towards the body surface, its proximal part narrows as the optic stalk, and its distal part invaginates to form a two-layered optic cup. (...) The optic cup induces the overlying surface ectoderm first to thicken as a lens placode and then to invaginate and form a lens vesicle that differentiates into the lens.[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.429 VHOG VHOG:0000166 http://bgee.unil.ch/ paraxial mesoderm AAO:0010568 AO notes: note that all AOs differ in the relationship between this structure and the mesoderm; in ZFA it is a subclass (and this is implied by the GO definition and GO relationships), in AAO it is part of, and in EHDAA2 it develops from the mesoderm (but in EHDAA2 the naming convention is to use 'paraxial mesenchyme', rather than 'paraxial mesoderm'). Also in ZFA it is part of the trunk whereas this conflicts with the division into head and trunk in ehdaa2 (which we follow here) EFO:0003515 EMAPA:16183 EMAPA:16751 Mesoderm lateral to the neural tube and notochord that is divided into cranial and post-cranial portions. The trunk portions further segment into somites.[AAO] Presently, Cephalochordata, Urochordata, and Vertebrata are placed as subphyla of the phylum Chordata, in which the overall organization of embryonic tissues (dorsal hollow nerve cord, ventral digestive tract, axial notochord, and bilateral paraxial mesoderm) is largely conserved. In contrast, the echinoderms and hemichordates are sister groups of the chordates and they lack the notochord and paraxial mesoderm. Thus, the basic mesodermal organization of vertebrates must have appeared first in the common ancestor of the chordates.[well established][VHOG] SCTID:361475002 TAO:0000255 The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO] UBERON:0003077 UMLS:C1284009 VHOG:0000114 Wikipedia:Paraxial_mesoderm XAO:0000259 ZFA:0000255 http://upload.wikimedia.org/wikipedia/commons/6/64/Gray19_with_color.png http://upload.wikimedia.org/wikipedia/commons/thumb/6/64/Gray19_with_color.png/200px-Gray19_with_color.png mesoderma paraxiale ncithesaurus:Paraxial_Mesoderm paraxial mesenchyme somitic mesoderm uberon Wikipedia:Paraxial_mesoderm mesoderma paraxiale 2012-06-20 AAO AAO:0010568 AAO:EJS Mesoderm lateral to the neural tube and notochord that is divided into cranial and post-cranial portions. The trunk portions further segment into somites.[AAO] UBERONREF:0000002 ZFA:0000255 paraxial mesenchyme ZFA VHOG:0000114 2012-09-17 DOI:10.1002/dvdy.21177 Kusakabe R and Kuratani S. Evolutionary perspectives from development of mesodermal components in the lamprey. Developmental dynamics (2007) Presently, Cephalochordata, Urochordata, and Vertebrata are placed as subphyla of the phylum Chordata, in which the overall organization of embryonic tissues (dorsal hollow nerve cord, ventral digestive tract, axial notochord, and bilateral paraxial mesoderm) is largely conserved. In contrast, the echinoderms and hemichordates are sister groups of the chordates and they lack the notochord and paraxial mesoderm. Thus, the basic mesodermal organization of vertebrates must have appeared first in the common ancestor of the chordates.[well established][VHOG] VHOG VHOG:0000114 http://bgee.unil.ch/ GO:0048339 The paraxial mesoderm is the mesoderm located bilaterally adjacent to the notochord and neural tube[GO] Wikipedia:Paraxial_mesoderm XAO ISBN:9780878932504 somitic mesoderm epibranchial placode AAO:0011036 EFO:0003455 Epibranchial placodes-derived neurons innervate internal organs to transmit information such as heart rate, blood pressure, and visceral distension from the periphery to the central nervous system (Baker and Bronner-Fraser, 2001). From rostral to caudal the epibranchial placodes comprise the geniculate, petrosal, and nodose placodes, each associated in sequence with the first, second and third branchial clefts. Each placode contributes sensory neurons to cranial nerves VII (facial nerve), IX (glossopharyngeal nerve), and X (vagal nerve), respectively[NBK53175]. AO notes: in XAO this develops_from dorsolateral placode, but in NBK53175, this is a separate group Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. [Graham_A, The_development_and_evolution_of_the_pharyngeal_arches._J_Anat_(2001)_199:_133-141][VHOG] TAO:0001294 These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] UBERON:0003078 VHOG:0000117 XAO:0000284 ZFA:0001294 epibranchial placodes uberon ventrolateral placode ISBN10:0471888893 ventrolateral placode ZFA ZFA:0001294 epibranchial placodes NBK53175 ZFA VHOG:0000117 Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. VHOG:0000117 2012-09-17 Focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches and that produce the neuroblasts that migrate and condense to form the distal cranial ganglia. [Graham_A, The_development_and_evolution_of_the_pharyngeal_arches._J_Anat_(2001)_199:_133-141][VHOG] VHOG VHOG:0000117 http://bgee.unil.ch/ 2012-09-17 DOI:10.1046/j.1469-7580.2001.19910133.x Graham A, The development and evolution of the pharyngeal arches. J Anat (2001) These (the epibranchial placodes) are focal thickenings of the embryonic ectoderm that form immediately dorsal and caudal of the clefts between the pharyngeal arches in all vertebrates, and they produce the neuroblasts which migrate and condense to form the distal cranial ganglia: the geniculate, petrosal and nodose ganglia. (...) The one substantial difference between the vertebrate pharyngeal arches and those of the protochordates is the presence of the epibranchial placodes but the evolution of these structures was undoubtedly driven by the endoderm.[well established][VHOG] VHOG VHOG:0000117 http://bgee.unil.ch/ floor plate A ventral region of glial cells in the neural tube that provides inductive signals for the specification of neuronal cell types. The floor plate is evident at the ventral midline by the neural fold stage[GO]. A structure integral to the developing nervous system of vertebrate organisms. Located on the ventral midline of the embryonic neural tube, the floor plate is a specialized glial structure that spans the anteroposterior axis from the midbrain to the tail regions. It has been shown that the floor plate is conserved among vertebrates with homologous structures in invertebrates such as the fruit fly Drosophila and the nematode C. elegans. Functionally, the structure serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube[WP]. AAO:0011041 BTO:0001720 EFO:0003473 FP Note that although this is classically defined as being located on the neural tube, in many AOs the floor plate continues post-embryonically after the neural tube has ceased to exist. Consider 'floor plate of neural tube'. Organizing center consisting of a small group of cells located at the ventral midline of the neural tube that influences the development of the nervous system, governing the specification of neuronal cell types and directing axonal trajectories.[AAO] RETIRED_EHDAA2:0000545 TAO:0000022 UBERON:0003079 Wikipedia:Floor_plate ZFA:0000022 bodenplatte floorplate http://upload.wikimedia.org/wikipedia/commons/8/89/Gray642.png http://upload.wikimedia.org/wikipedia/commons/thumb/8/89/Gray642.png/200px-Gray642.png uberon ventral plate FP TAO:0000022 BTO:0001720 bodenplatte 2012-06-20 AAO AAO:0011041 GO:0021508 Organizing center consisting of a small group of cells located at the ventral midline of the neural tube that influences the development of the nervous system, governing the specification of neuronal cell types and directing axonal trajectories.[AAO] PMID:15738958 A ventral region of glial cells in the neural tube that provides inductive signals for the specification of neuronal cell types. The floor plate is evident at the ventral midline by the neural fold stage[GO]. A structure integral to the developing nervous system of vertebrate organisms. Located on the ventral midline of the embryonic neural tube, the floor plate is a specialized glial structure that spans the anteroposterior axis from the midbrain to the tail regions. It has been shown that the floor plate is conserved among vertebrates with homologous structures in invertebrates such as the fruit fly Drosophila and the nematode C. elegans. Functionally, the structure serves as an organizer to ventralize tissues in the embryo as well as to guide neuronal positioning and differentiation along the dorsoventral axis of the neural tube[WP]. GO:0021508 PMID:15738958 Wikipedia:Floor_plate BTO:0001720 ventral plate ZFA trunk neural crest AAO:0010582 EFO:0003605 EHDAA2:0001901 Post-cranial portion of the neural crest. Exact anatomical derivations not experimentally resolved in amphibians.[AAO] TAO:0001024 This class was created automatically from a combination of ontologies Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]. UBERON:0003083 VHOG:0000062 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] Wikipedia:Trunk_neural_crest XAO:0000319 ZFA:0001024 trunk crest uberon VHOG:0000062 2012-06-20 AAO AAO:0010582 AAO:EJS Post-cranial portion of the neural crest. Exact anatomical derivations not experimentally resolved in amphibians.[AAO] ISBN:0815318960 Trunk portion of the neural crest. The trunk neural crest lies between the vagal and sacral neural crest and gives rise to two groups of cells. One group migrates dorsolateral and populates the skin, forming pigment cells and the other migrates ventrolateral through the anterior sclerotome to become the epinephrine-producing cells of the adrenal gland and the neurons of the sympathetic nervous system. Some cells remain in the sclerotome to form the dorsal root ganglia [Wikipedia]. Wikipedia:Trunk_neural_crest 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000062 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] http://bgee.unil.ch/ caudal artery AAO:0011023 CA EFO:0003472 Extension of the dorsal aorta in the tail. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> Extension of the dorsal aorta in the tail. Kimmel et al, 1995.[TAO] TAO:0000011 The posterior extension of the dorsal aorta to the tail region, which degenerates at metamorphosis.[AAO] This class was created automatically from a combination of ontologies UBERON:0003086 VHOG:0000123 Wikipedia:Caudal_artery XAO:0000364 ZFA:0000011 relationship loss: part_of axial vasculature (TAO:0001073)[TAO] uberon Extension of the dorsal aorta in the tail. <a href='http://zfin.org/cgi-bin/ZFIN_jump?record=ZDB-PUB-961014-576'>Kimmel et al, 1995.</a> Wikipedia:Caudal_artery ZFIN:curator VHOG:0000123 2012-08-14 Extension of the dorsal aorta in the tail. Kimmel et al, 1995.[TAO] TAO TAO:0000011 ZFIN:curator 2012-08-14 TAO TAO:0000011 relationship loss: part_of axial vasculature (TAO:0001073)[TAO] 2012-06-20 AAO AAO:0011023 ISBN:0-226-55763-4 The posterior extension of the dorsal aorta to the tail region, which degenerates at metamorphosis.[AAO] cranial neural crest AAO:0010580 Anterior most portion of the neural crest. Migrates in three highly conserved streams: mandibular, hyoid and branchial.[AAO] EFO:0003645 EHDAA2:0004420 EMAPA:16091 Neural crest that is part of the head.[TAO] TAO:0001194 The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia]. This class was created automatically from a combination of ontologies UBERON:0003099 VHOG:0000063 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] Wikipedia:Cranial_neural_crest XAO:0001001 ZFA:0001194 cephalic neural crest crista neuralis cranialis head crest head neural crest uberon Wikipedia:Cranial_neural_crest crista neuralis cranialis EMAPA:16091 cephalic neural crest The cranial neural crest arises in the anterior and populates the face and the pharyngeal arches giving rise to bones, cartilage, nerves and connective tissue [Wikipedia]. Wikipedia:Cranial_neural_crest ZFA:0001194 ZFIN:curator 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000063 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010580 AAO:EJS Anterior most portion of the neural crest. Migrates in three highly conserved streams: mandibular, hyoid and branchial.[AAO] VHOG:0000063 2012-08-14 Neural crest that is part of the head.[TAO] TAO TAO:0001194 ZFIN:curator olfactory region AAO:0010206 Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ. Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.[TAO] Anatomical cluster that is located in the anterior region of the neurocranium and provides structural support for the olfactory organs.[AAO] EFO:0003525 TAO:0000351 UBERON:0003112 XAO:0003172 ZFA:0000351 ethmoid region ncithesaurus:Olfactory_Region uberon ZFA:0000351 ethmoid region 2012-08-14 Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.[TAO] TAO TAO:0000351 TAO:MAH Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the olfactory organ. TAO:0000351 2012-06-20 AAO AAO:0010206 AAO:EJS Anatomical cluster that is located in the anterior region of the neurocranium and provides structural support for the olfactory organs.[AAO] chorion BTO:0000252 CALOHA:TS-0144 Development notes: Extra-embryonic ectoderm[PMID:19829370]. Taxon notes: The chorion of placentals is bilaminar as in reptiles and birds, but forms from the trophoblast and includes the ajdacent mesodermal layer [ISBN10:0073040584 "Vertebrates, Kardong"]. EFO:0002780 EHDAA2:0000245 EHDAA:150 EMAPA:16112 EV:0100121 FMA:80224 GAID:1299 MESH:A16.254.403.473 Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes. The chorionic villi emerge from the chorion, invade the endometrium, and allow transfer of nutrients from maternal blood to fetal blood. The outer membrane enclosing the embryo in reptiles, birds, and mammals. [TFD][VHOG] The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta[BTO:0000252]. UBERON:0003124 UMLS:C0008503 UMLS:C1516505 VHOG:0000200 Wikipedia:Chorion chorion (vertebrates) chorion frondosum chorionic chorionic sac embryonic chorion fetal chorion http://upload.wikimedia.org/wikipedia/commons/5/51/Gray24.png ncithesaurus:Chorion ncithesaurus:Chorionic_Sac uberon uterine chorion VHOG:0000200 UBERON:cjm ZFIN:curator uterine chorion Wikipedia:Chorion chorionic sac The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes. The chorionic villi emerge from the chorion, invade the endometrium, and allow transfer of nutrients from maternal blood to fetal blood. Wikipedia:Chorion 2012-09-17 The outer membrane enclosing the embryo in reptiles, birds, and mammals. [TFD][VHOG] VHOG VHOG:0000200 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/chorion BTO:0000252 The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta[BTO:0000252]. 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.187 Structures homologous to the four extraembryonic membranes of reptiles and birds appear in mammals: amnion, chorion, yolk sac, and allantois.[well established][VHOG] VHOG VHOG:0000200 http://bgee.unil.ch/ Wikipedia:Chorion chorion frondosum trachea AAO:0010140 An elongated tube which carries air to and from the lungs.[AAO] BTO:0001388 CALOHA:TS-1060 EFO:0000935 EHDAA2:0002066 EHDAA:3078 EMAPA:16853 EV:0100040 FMA:7394 GAID:361 In primitive fishes and most tetrapods, the lungs of adults are usually paired. They lie ventral to the digestive tract and are connected to the outside environment through the trachea.[well established][VHOG] MA:0000441 MAT:0000137 MESH:A04.889 MIAA:0000137 OpenCyc:Mx4rvViOX5wpEbGdrcN5Y29ycA SCTID:181213009 Taxon notes: in mouse 15-18 C-rings, 15-20 in human. [ISBN10:0123813611]. In birds, the trachea runs from the pharynx to the syrinx, from which the primary bronchi diverge. Swans have an unusually elongated trachea, part of which is coiled beneath the sternum; this may act as a resonator to amplify sound. In some birds, the cartilagenous rings are complete, and may even be ossified. In amphibians, the trachea is normally extremely short, and leads directly into the lungs, without clear primary bronchi. A longer trachea is, however found in some long-necked salamanders, and in caecilians. While there are irregular cartilagenous nodules on the amphibian trachea, these do not form the rings found in amniotes. The only vertebrate to have lungs, but no trachea, is Polypterus, in which the lungs arise directly from the pharynx. The respiratory tube between the larynx and the bronchi. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]. UBERON:0003126 UMLS:C0040578 VHOG:0000371 Wikipedia:Vertebrate_trachea XAO:0000118 cartilaginous trachea http://upload.wikimedia.org/wikipedia/commons/9/9f/Illu_conducting_passages.svg http://upload.wikimedia.org/wikipedia/commons/thumb/c/c3/Illu_conducting_passages.jpg/200px-Illu_conducting_passages.jpg ncithesaurus:Trachea tracheal tracheal tubule uberon vertebrate trachea windpipe GO:0060438 The trachea is the portion of the airway that attaches to the bronchi as it branches [GO:dph]. Wikipedia:Vertebrate_trachea BTO:0001388 tracheal tubule vertebrate trachea 2012-09-17 The respiratory tube between the larynx and the bronchi. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Glossary_G-29, Grande_L, Liem_KF, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF][VHOG] VHOG VHOG:0000371 http://bgee.unil.ch/ VHOG:0000371 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.409 In primitive fishes and most tetrapods, the lungs of adults are usually paired. They lie ventral to the digestive tract and are connected to the outside environment through the trachea.[well established][VHOG] VHOG VHOG:0000371 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0010140 AAO:BJB An elongated tube which carries air to and from the lungs.[AAO] cranium BTO:0001328 EFO:0000831 EHDAA:6029 FMA:71325 MA:0000316 MAT:0000340 MIAA:0000340 OpenCyc:Mx4rvVlEyJwpEbGdrcN5Y29ycA SCTID:181889008 The term cranium can be ambiguous, in that it can refer to the neurocranium, or the neurocranium and the Facial skeleton[WP]. AO notes: the inclusion of the FMA class here is probably not quite correct, as this class includes as parts sutures, whereas this is not part of the bones of the cranium UBERON:0003128 Upper portion of the skull that excludes the mandible (when present in the organism). VHOG:0000334 Wikipedia:Cranium_(anatomy) bones of cranium calvarium cranial epicranial plate ossa cranii set of bones of cranium skeletal system of head skull minus mandible uberon upper part of skull VHOG:0000334 BTO:0001328 calvarium FMA:71325 bones of cranium FMA:71325 set of bones of cranium FMA:71325 FMA:TA ossa cranii Upper portion of the skull that excludes the mandible (when present in the organism). Wikipedia:Cranium_(anatomy) pupa BTO:0001143 EFO:0002684 FBbt:00002953 HAO:0000886 OpenCyc:Mx4rwQCBr5wpEbGdrcN5Y29ycA Organism at the pupal stage. The pupal stage is a life stage of some insects undergoing transformation. The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago. UBERON:0003143 Wikipedia:Pupa aurelia chrysalides chrysalis pupae pupal uberon NCBITaxon:37572 Wikipedia:Pupa aurelia NCBITaxon:37572 Wikipedia:Pupa chrysalis NCBITaxon:37572 Wikipedia:Pupa chrysalides pupae Organism at the pupal stage. The pupal stage is a life stage of some insects undergoing transformation. The pupal stage is found only in holometabolous insects, those that undergo a complete metamorphosis, going through four life stages; embryo, larva, pupa and imago. Wikipedia:Pupa alveolus EFO:0002513 EV:0100043 FMA:82493 OpenCyc:Mx4rwN8NFZwpEbGdrcN5Y29ycA UBERON:0003215 UMLS:C0034051 Wikipedia:Alveolus alveolar ncithesaurus:Alveolus organ part that has the form of a hollow cavity[WP]. uberon Wikipedia:Alveolus organ part that has the form of a hollow cavity[WP]. floor plate of midbrain A floor plate that is part of a midbrain [Automatically generated definition]. EHDAA2:0001164 EHDAA:3698 EMAPA:16975 Floor plate that is part of the midbrain.[TAO] In summary, the available data for tunicates, amphioxus, and vertebrates indicate that a floorplate-like structure was already present in the proximate invertebrate ancestor of the vertebrates and that the genetic mechanisms for DV patterning of the nerve cord were also largely in place.[well established][VHOG] RETIRED_EHDAA2:0001106 TAO:0002196 UBERON:0003307 VHOG:0000780 ZFA:0001677 floor plate mesencephalon floor plate midbrain floor plate midbrain region floorplate midbrain floorplate of midbrain midbrain floor plate midbrain floorplate relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: develops_from multi-tissue structure (UBERON:0000481)[TAO] relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: part_of multi-tissue structure (UBERON:0000481)[TAO] uberon OBOL:automatic midbrain floorplate 2012-09-17 DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999) In summary, the available data for tunicates, amphioxus, and vertebrates indicate that a floorplate-like structure was already present in the proximate invertebrate ancestor of the vertebrates and that the genetic mechanisms for DV patterning of the nerve cord were also largely in place.[well established][VHOG] VHOG VHOG:0000780 http://bgee.unil.ch/ VHOG:0000780 floor plate mesencephalon OBOL:automatic floorplate of midbrain VHOG:0000780 OBOL:automatic midbrain floor plate ZFA:0001677 floor plate midbrain region 2012-08-14 TAO TAO:0002196 relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: develops_from multi-tissue structure (UBERON:0000481)[TAO] 2012-08-14 Floor plate that is part of the midbrain.[TAO] TAO TAO:0002196 ZFIN:curator A floor plate that is part of a midbrain [Automatically generated definition]. OBOL:automatic VHOG:0000780 floor plate midbrain true 2012-08-14 TAO TAO:0002196 relationship type change: subclass multi-tissue structure (CARO:0000055) CHANGED TO: part_of multi-tissue structure (UBERON:0000481)[TAO] VHOG:0000780 floorplate midbrain hindlimb muscle A muscle organ that is part of a hindlimb [Automatically generated definition]. AAO:0000222 EFO:0001928 FMA:37368 UBERON:0003663 free lower limb muscle hind limb muscle organ hindlimb muscle organ inferior member muscle organ lower extremity muscle organ muscle of free lower limb muscle of posterior limb muscle organ of hind limb muscle organ of hindlimb muscle organ of inferior member muscle organ of lower extremity uberon https://orcid.org/0000-0002-6601-2165 muscle of posterior limb OBOL:automatic lower extremity muscle organ OBOL:automatic hindlimb muscle organ OBOL:automatic muscle organ of inferior member A muscle organ that is part of a hindlimb [Automatically generated definition]. OBOL:automatic OBOL:automatic inferior member muscle organ OBOL:automatic muscle organ of lower extremity OBOL:automatic muscle organ of hindlimb OBOL:automatic hind limb muscle organ FMA:37368 muscle of free lower limb OBOL:automatic muscle organ of hind limb FMA:37368 free lower limb muscle mouth floor CALOHA:TS-2207 EFO:0001923 FMA:86592 GAID:1283 MESH:A14.549.441 SCTID:245786002 UBERON:0003679 UMLS:C0026638 floor of mouth ncithesaurus:Floor_of_the_Mouth sublingual region uberon GAID:1283 sublingual region FMA:86592 floor of mouth abdominal cavity EFO:0000213 FMA:12266 GAID:17 MESH:A01.047.025 OpenCyc:Mx4rvZR1TJwpEbGdrcN5Y29ycA SCTID:361294009 UBERON:0003684 UMLS:C0230168 Wikipedia:Abdominal_cavity body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). cavitas abdominis cavity of abdominal compartment cavity of compartment of abdomen galen:AbdominalCavity http://upload.wikimedia.org/wikipedia/commons/e/ee/Scheme_body_cavities-en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/e/ee/Scheme_body_cavities-en.svg/200px-Scheme_body_cavities-en.svg.png ncithesaurus:Abdominal_Cavity space of abdominal compartment uberon FMA:12266 cavity of compartment of abdomen Wikipedia:Abdominal_cavity cavitas abdominis GAID:17 cavitas abdominis FMA:12266 space of abdominal compartment FMA:12266 cavity of abdominal compartment Wikipedia:Abdominal_cavity body cavity of the human body (and animal bodies) that holds the bulk of the viscera. It is located below (or inferior to) the thoracic cavity, and above the pelvic cavity. It is a part of the abdominopelvic cavity. Organs of the abdominal cavity include the stomach, liver, gallbladder, spleen, pancreas, small intestine, kidneys, and large intestine. The abdominal cavity is lined with a protective membrane termed the peritoneum. The kidneys are located in the abdominal cavity behind the peritoneum, in the retroperitoneum. The viscera are also covered, in the front, with a layer of peritoneum called the greater omentum (or omental apron). sacrum AAO:0000552 CALOHA:TS-2201 EFO:0003071 Enlarged vertebra with transverse processes (diapophyses), and ocassionally ribs, that are modified and elaborated for support of the pelvic girdle.[AAO] FMA:16202 GAID:241 MESH:A02.835.232.834.717 OpenCyc:Mx4rvmBKnJwpEbGdrcN5Y29ycA SCTID:264186006 The sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone). In children, it consists of usually five unfused vertebrae which begin to fuse between ages 16-18 and are usually completely fused into a single bone by age 26. It is curved upon itself and placed obliquely (that is, tilted forward). It is kyphotic — that is, concave facing forwards. The base projects forward as the sacral promontory internally, and articulates with the last lumbar vertebra to form the prominent sacrovertebral angle. The central part is curved outward towards the posterior, allowing greater room for the pelvic cavity. [WP,unvetted]. UBERON:0003690 Wikipedia:Sacrum galen:Sacrum http://upload.wikimedia.org/wikipedia/commons/e/ec/Gray95.png http://upload.wikimedia.org/wikipedia/commons/thumb/e/ec/Gray95.png/200px-Gray95.png ncithesaurus:Sacrum os sacrum os sacrum [vertebrae sacrales i - v] sacral sacral bone sacrum [sacral vertebrae I-V] sacrum [sacral vertebrae i - v] uberon FMA:16202 sacrum [sacral vertebrae i - v] Wikipedia:Sacrum os sacrum FMA:16202 sacrum [sacral vertebrae I-V] FMA:16202 sacral bone The sacrum is a large, triangular bone at the base of the spine and at the upper and back part of the pelvic cavity, where it is inserted like a wedge between the two hip bones. Its upper part connects with the last lumbar vertebra, and bottom part with the coccyx (tailbone). In children, it consists of usually five unfused vertebrae which begin to fuse between ages 16-18 and are usually completely fused into a single bone by age 26. It is curved upon itself and placed obliquely (that is, tilted forward). It is kyphotic — that is, concave facing forwards. The base projects forward as the sacral promontory internally, and articulates with the last lumbar vertebra to form the prominent sacrovertebral angle. The central part is curved outward towards the posterior, allowing greater room for the pelvic cavity. [WP,unvetted]. Wikipedia:Sacrum FMA:16202 FMA:TA os sacrum [vertebrae sacrales i - v] Wikipedia:Sacrum os sacrum 2012-06-20 AAO AAO:0000552 AAO:Duellman_and_Trueb_1994 Enlarged vertebra with transverse processes (diapophyses), and ocassionally ribs, that are modified and elaborated for support of the pelvic girdle.[AAO] mediastinum CALOHA:TS-2338 EFO:0003057 FMA:9826 GAID:94 MESH:A01.911.800.500 OpenCyc:Mx4rv2OKJ5wpEbGdrcN5Y29ycA SCTID:181217005 The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity. It contains the heart, the great vessels of the heart, esophagus, trachea, phrenic nerve, cardiac nerve, thoracic duct, thymus, and lymph nodes of the central chest. The mediastinum lies between the right and left pleura in and near the median sagittal plane of the chest. It extends from the sternum in front to the vertebral column behind, and contains all the thoracic viscera except the lungs. It may be divided for purposes of description into two parts:an upper portion, above the upper level of the pericardium, which is named the superior mediastinum with its superior limit at the superior thoracic opening and its inferior limit at the plane from the sternal angle to the disc of T4-T5 (Plane of Ludwig at Angle of Louis); and a lower portion, below the upper level of the pericardium. This lower portion is again subdivided into three parts, viz. that in front of the pericardium, the anterior mediastinum; that containing the pericardium and its contents, the middle mediastinum; and that behind the pericardium, the posterior mediastinum. It is surrounded by the chest wall anteriorly, the lungs laterally and the spine posteriorly. It is continuous with the loose connective tissue of the neck, and extends inferiorly onto the diaphragm. UBERON:0003728 UMLS:C0025066 Wikipedia:Mediastinum http://upload.wikimedia.org/wikipedia/commons/a/ab/Mediastinum.png http://upload.wikimedia.org/wikipedia/commons/thumb/a/ab/Mediastinum.png/200px-Mediastinum.png mediastinal mediastinal part of chest ncithesaurus:Mediastinum uberon The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity. It contains the heart, the great vessels of the heart, esophagus, trachea, phrenic nerve, cardiac nerve, thoracic duct, thymus, and lymph nodes of the central chest. The mediastinum lies between the right and left pleura in and near the median sagittal plane of the chest. It extends from the sternum in front to the vertebral column behind, and contains all the thoracic viscera except the lungs. It may be divided for purposes of description into two parts:an upper portion, above the upper level of the pericardium, which is named the superior mediastinum with its superior limit at the superior thoracic opening and its inferior limit at the plane from the sternal angle to the disc of T4-T5 (Plane of Ludwig at Angle of Louis); and a lower portion, below the upper level of the pericardium. This lower portion is again subdivided into three parts, viz. that in front of the pericardium, the anterior mediastinum; that containing the pericardium and its contents, the middle mediastinum; and that behind the pericardium, the posterior mediastinum. It is surrounded by the chest wall anteriorly, the lungs laterally and the spine posteriorly. It is continuous with the loose connective tissue of the neck, and extends inferiorly onto the diaphragm. Wikipedia:Mediastinum FMA:9826 mediastinal part of chest mesencephalic neural crest A neural crest that developmentally_contributes_to a midbrain. EFO:0003591 EHDAA2:0001101 EHDAA:360 TAO:0000935 UBERON:0003849 VHOG:0000796 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] ZFA:0000935 mesencephalic neural crest neural crest midbrain uberon ZFA:0000935 mesencephalic neural crest VHOG:0000796 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000796 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] http://bgee.unil.ch/ ZFA:0000935 neural crest midbrain ZFA A neural crest that developmentally_contributes_to a midbrain. OBOL:automatic telencephalon neural crest A neural crest that developmentally_contributes_to a telencephalon. Cranial neural crest that is part of the telencephalon.[TAO] EFO:0003574 RETIRED_EHDAA2:0001991 TAO:0000812 UBERON:0003850 VHOG:0000799 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] ZFA:0000812 neural crest telencephalon uberon 2012-08-14 Cranial neural crest that is part of the telencephalon.[TAO] TAO TAO:0000812 ZFIN:curator VHOG:0000799 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000799 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] http://bgee.unil.ch/ A neural crest that developmentally_contributes_to a telencephalon. OBOL:automatic ZFA:0000812 neural crest telencephalon diencephalon neural crest A neural crest that developmentally_contributes_to a diencephalon. EFO:0003573 EHDAA2:0000603 EMAPA:16518 TAO:0000811 UBERON:0003851 VHOG:0000798 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] ZFA:0000811 diencephalic neural crest future diencephalon neural crest neural crest diencephalon neural crest of future diencephalon uberon 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000798 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] http://bgee.unil.ch/ ZFA:0000811 diencephalic neural crest A neural crest that developmentally_contributes_to a diencephalon. OBOL:automatic EMAPA:16518 neural crest of future diencephalon ZFA:0000811 neural crest diencephalon VHOG:0000798 EHDAA2:0000603 future diencephalon neural crest neural arch (...) certain common components [of vertebral structure] are found in nearly all vertebrate. A representative vertebra has a vertebral arch or neural arch, which extends dorsally around the spinal cord.[well established][VHOG] A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.[TAO] AAO:0000725 Bony arch perched on the vertebral centrum; successive arches enclose the neural canal that surrounds and protects the spinal cord dorsally.[AAO] EFO:0003618 FMA:11946 MA:0001453 OpenCyc:Mx4rwKYHvZwpEbGdrcN5Y29ycA SCTID:317373001 TAO:0001066 Taxon notes: tiny neural arches present in Hagfish (which lack a true vertebraal column). UBERON:0003861 UMLS:C0223076 VHOG:0001670 Wikipedia:Vertebral_arch ZFA:0001066 arcus vertebra arcus vertebrae arcus vertebrae (vertebralis) dorsal arcocentrum http://upload.wikimedia.org/wikipedia/commons/3/30/Gray82.png http://upload.wikimedia.org/wikipedia/commons/thumb/3/30/Gray82.png/200px-Gray82.png ncithesaurus:Arch_of_the_Vertebra posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone. relationship loss: develops_from basidorsal (TAO:0001060)[TAO] uberon vertebra dorsal arch vertebra neural arch ZFA:0001066 dorsal arcocentrum Wikipedia:Vertebral_arch arcus vertebra Wikipedia:Vertebral_arch posterior part of a vertebra that consists of a pair of pedicles and a pair of laminae, and supports seven processes: four articular processes, two transverse processes one spinous process[WP]. ZFA: A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone. Wikipedia:Vertebral_arch arcus vertebrae (...) certain common components [of vertebral structure] are found in nearly all vertebrate. A representative vertebra has a vertebral arch or neural arch, which extends dorsally around the spinal cord.[well established][VHOG] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.270 VHOG VHOG:0001670 http://bgee.unil.ch/ 2012-08-14 A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.[TAO] TAO TAO:0001066 ZFIN:curator VHOG:0001670 2012-06-20 AAO AAO:0000725 AAO:Pugener_2002 Bony arch perched on the vertebral centrum; successive arches enclose the neural canal that surrounds and protects the spinal cord dorsally.[AAO] MA:0001453 vertebra neural arch Wikipedia:Vertebral_arch arcus vertebrae MA:0001453 vertebra dorsal arch FMA:11946 arcus vertebrae (vertebralis) 2012-08-14 TAO TAO:0001066 relationship loss: develops_from basidorsal (TAO:0001060)[TAO] fallopian tube CALOHA:TS-0732 EHDAA2:0000504 EV:0100112 FMA:18245 GAID:365 MA:0000385 MESH:A05.360.319.114.373 OpenCyc:Mx4rvViVeZwpEbGdrcN5Y29ycA SCTID:181463001 Two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction[WP]. Embryos have two pairs of ducts to let gametes out of the body; one pair (the Mullerian ducts) develops in females into the Fallopian tubes, uterus and vagina, while the other pair (the Wolffian ducts) develops in males into the epididymis and vas deferens. UBERON:0003889 UMLS:C0015560 Wikipedia:Fallopian_tube fallopian tubes female paramesonephric duct galen:FallopianTube http://en.wikipedia.org/wiki/Talk:Fallopian_tube#Homology http://upload.wikimedia.org/wikipedia/commons/6/68/Scheme_female_reproductive_system-en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/6/68/Scheme_female_reproductive_system-en.svg/200px-Scheme_female_reproductive_system-en.svg.png mammalian oviduct ncithesaurus:Fallopian_Tube salpinges salpinx tuba uterina uberon uterine tube (sensu Mammalia) http://sourceforge.net/tracker/?func=detail&aid=3293337&group_id=36855&atid=440764 mammalian oviduct salpinges Wikipedia:Fallopian_tube tuba uterina Two very fine tubes lined with ciliated epithelia, leading from the ovaries of female mammals into the uterus, via the utero-tubal junction[WP]. Embryos have two pairs of ducts to let gametes out of the body; one pair (the Mullerian ducts) develops in females into the Fallopian tubes, uterus and vagina, while the other pair (the Wolffian ducts) develops in males into the epididymis and vas deferens. Wikipedia:Fallopian_tube EHDAA2:0000504 female paramesonephric duct liver primordium A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. AAO:0011058 BTO:0003391 EFO:0002577 EFO:0003428 EHDAA2:0000744 EHDAA:973 EMAPA:16847 Editor's note: consider adding further subdivisions of the endoderm, e.g. ventral foregut. Note we place two EFO classes here, it's not clear how they differ TAO:0000124 UBERON:0003894 UMLS:C0734013 UMLS:C1514451 XAO:0003266 ZFA:0000124 embryological hepatic plate hepatic plate liver bud liver endoderm ncithesaurus:Hepatic_Cord ncithesaurus:Primordium_of_the_Liver primordium of the liver uberon EHDAA2:0000744 hepatic plate EFO:0002577 liver endoderm embryological hepatic plate https://orcid.org/0000-0002-6601-2165 XAO ncithesaurus:Primordium_of_the_Liver primordium of the liver XAO:0003266 ZFA:0000124 liver bud A small endodermal thickening in the foregut adjacent to the transverse septum. Invaginates forming the hepatic diverticulum. ISBN:3211492755 horizontal septum A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses. Kimmel et al, 1995.[TAO] A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature. EFO:0003555 TAO:0000671 UBERON:0003901 ZFA:0000671 horizontal myoseptum horizontal septum of vertebra relationship loss: subclass myoseptum (TAO:0001089)[TAO] uberon A logitudinal sheet of continuous connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses; each is destined to become, respectively, the epaxial and hyopaxial musculature. ISBN10:0073040584 ZFA:0000671 2012-08-14 TAO TAO:0000671 relationship loss: subclass myoseptum (TAO:0001089)[TAO] 2012-08-14 A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses. Kimmel et al, 1995.[TAO] TAO TAO:0000671 ZFIN:curator ZFA:0000671 horizontal myoseptum pancreas primordium AO notes: in EHDAA2 this has dorsal and ventral primordia as parts. the buds are part of the primordium, with the ducts developing from the buds; only parenchyma and ducts have contribution from buds. Terminology notes: revisit after standardizing terms 'primordium', 'anlagen', 'bud' EFO:0002579 EFO:0003434 EHDAA2:0001382 EHDAA:2163 EMAPA:17066 FMA:79792 TAO:0000254 UBERON:0003921 XAO:0001101 ZFA:0000254 embryonic structure that develops into pancreatic bud. http://upload.wikimedia.org/wikipedia/commons/thumb/d/db/Gray982.png/200px-Gray982.png pancreatic anlage pancreatic endoderm pancreatic primordium primordial pancreas uberon EFO:0002579 pancreatic endoderm embryonic structure that develops into pancreatic bud. http://en.wikipedia.org/wiki/Pancreas#Embryological_development EHDAA2 Wikipedia FMA:79792 primordial pancreas pancreatic bud EFO:0003470 SCTID:360398004 TAO:0001390 The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. In humans, an embryonic structure that is an outgrowth of the duodenum during embryogenesis - joins together to form the adult pancreas[WP]. UBERON:0003922 UMLS:C1283285 Wikipedia:Pancreatic_bud ZFA:0001390 http://upload.wikimedia.org/wikipedia/commons/d/db/Gray982.png http://upload.wikimedia.org/wikipedia/commons/thumb/4/49/Suckale08FBS_fig1_pancreas_development.jpeg/300px-Suckale08FBS_fig1_pancreas_development.jpeg http://upload.wikimedia.org/wikipedia/commons/thumb/d/db/Gray982.png/200px-Gray982.png ncithesaurus:Pancreatic_Bud pancreatic anlage pancreatic buds uberon EHDAA2 TAO:0001390 pancreatic buds PMID:16417468 The embryonic pancreas develops from two separate anlagen in the foregut epithelium, one dorsal and two ventral pancreatic buds[PMID]. In humans, an embryonic structure that is an outgrowth of the duodenum during embryogenesis - joins together to form the adult pancreas[WP]. Wikipedia:Pancreatic_bud Wikipedia:Pancreatic_bud zebrafish cartilage element of chondrocranium A cartilage element of chondrocranium. Example: neurocranial trabecula. EFO:0003690 TAO:0001461 UBERON:0003932 ZFA:0001461 cartilage of chondrocranium cartilaginous element of chondrocranium chondrocranium cartilage neurocranium cartilage uberon OBOL:accepted cartilaginous element of chondrocranium ZFA:0001461 neurocranium cartilage A cartilage element of chondrocranium. Example: neurocranial trabecula. https://orcid.org/0000-0002-6601-2165 ZFA:0001461 chondrocranium cartilage OBOL:accepted cartilage of chondrocranium mesenchyme pectoral fin EFO:0003604 Mesenchyme that is part of a pectoral fin [Automatically generated definition]. Mesenchyme that is part of the pectoral fin.[TAO] TAO:0001000 UBERON:0003934 ZFA:0001000 mesenchyme of pectoral fin pectoral fin mesenchyme uberon 2012-08-14 Mesenchyme that is part of the pectoral fin.[TAO] TAO TAO:0001000 ZFIN:curator OBOL:automatic pectoral fin mesenchyme OBOL:automatic mesenchyme of pectoral fin Mesenchyme that is part of a pectoral fin [Automatically generated definition]. OBOL:automatic postoptic commissure EFO:0003478 POC TAO:0000059 UBERON:0003936 ZFA:0000059 post optic commissure post-optic commissure uberon POC ZFA:0000059 ZFA:0000059 post optic commissure ZFA:0000059 post-optic commissure mature ovarian follicle . BTO:0000389 EFO:0003653 MA:0001709 Stage IV (690-730 microns) are oocyte maturation. Selman et al, 1993.[TAO] TAO:0001264 UBERON:0003982 ZFA:0001264 antral follicle folliculi ovarici vesiculosi ovarian follicle stage IV ovary mature follicle preovulatory follicle uberon ZFA:0001264 ovarian follicle stage IV MA:0001709 ovary mature follicle . MP:0009364 2012-08-14 Stage IV (690-730 microns) are oocyte maturation. Selman et al, 1993.[TAO] TAO TAO:0001264 ZFIN:curator BTO:0000389 antral follicle BTO:0000389 folliculi ovarici vesiculosi BTO:0000389 preovulatory follicle caudal ganglionic eminence CGE EFO:0001911 UBERON:0004026 the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle uberon true MP:0004278 the caudally located, distinct elevation of a transient proliferating cell mass of the fetal subventricular zone, located adjacent to the lateral ventricle brain ventricle BTO:0001442 EFO:0001914 FMA:78447 MA:0000818 MESH:A08.186.211.276 NIF_GrossAnatomy:birnlex_1356 Note that FMA draws the distinction between e.g. 'fourth ventricle' and 'cavity of fourth ventricle'. The latter is a cavity, and part of the former, which is a region. The superclass of 'fourth ventricle' is_a 'region of ventricular system of the brain'. We place this class here, although it is not equivalent to ventricles, as it includes ventricle bodies. OpenCyc:Mx4rvmTY65wpEbGdrcN5Y29ycA SCTID:180929003 UBERON:0004086 UMLS:C0007799 cerebral ventricle ncithesaurus:Ventricle_Brain one of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord, that like it are derived from the medullary canal of the embryo, that are lined with an epithelial ependyma, and that contain a serous fluid region of ventricular system of brain uberon HP:0002118 cerebral ventricle FMA:78447 region of ventricular system of brain pharyngeal pouch A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] AAO:0011113 AO notes: VHOG and EMAPAA distinguish between pouch endoderm and pouch but we merge those here. Editor notes: consider adding location (precursor) - i.e. internal (endodermal) // The pouches are polarized structures. For example, whereas the rostral half of each pouch expresses Bmp-7, the caudal half expresses FGF-8 and the dorsal aspect of each pouch is marked via its expression of Pax-1. each pouch has an individual sense of identity. Shh expression is a prominent early feature of the caudal endoderm of the second arch, and individual pouches mark the anterior limits of expression of Hox genes within the pharyngeal endoderm; Hox-a2 has a rostral boundary at the second pouch, Hox-a3 at the third pouch and Hox-a4 at the most caudal pouch[PMID:16313389] EFO:0003627 EHDAA:1086 EHDAA:1669 EHDAA:579 EHDAA:617 Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits. Crump et al, 2004.[TAO] SCTID:34674002 TAO:0001106 UBERON:0004117 UMLS:C0231067 VHOG:0001203 Wikipedia:Pharyngeal_pouch_(embryology) XAO:0000282 ZFA:0001106 branchial pouch embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]. ncithesaurus:Pharyngeal_Pouch pharyngeal pouches uberon visceral pouch visceral pouches VHOG:0001203 VHOG:0001203 visceral pouches visceral pouch 2012-08-14 Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits. Crump et al, 2004.[TAO] TAO TAO:0001106 ZFIN:curator 2012-09-17 A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M, Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005) VHOG VHOG:0001203 http://bgee.unil.ch/ VHOG:0001203 pharyngeal pouches Wikipedia:Pharyngeal_pouch_(embryology) embryonic structure that forms on the endodermal side between the pharyngeal arches, and pharyngeal grooves (or clefts) form the lateral ectodermal surface of the neck region to separate the arches. The pouches line up with the clefts, and these thin segments become gills in fish[WP]. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits[ZFA]. Wikipedia:Branchial_pouch branchial pouch genitourinary system AAO:0000624 Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.[AAO] BILA:0000122 BTO:0003091 EFO:0003864 EHDAA:1013 EMAPA:16367 EV:0100094 FMA:280610 GAID:362 GU tract Kidneys and gonads (of vertebrates) develop from adjacent tissues, and after the excretory or urinary ducts have developed, the reproductive system usually taps into them or their derivatives.[well established][VHOG] MESH:A05 OpenCyc:Mx4rQRpVMgAKEdyHxgDggVfs8g SCTID:278861008 UBERON:0004122 UG tract UMLS:C0042066 Urogenitalsystem VHOG:0000286 XAO:0000140 galen:GenitoUrinarySystem genitourinary genitourinary tract ncithesaurus:Genitourinary_System relationship type change: differentiates_from intermediate mesoderm (AAO:0010575) CHANGED TO: develops_from intermediate mesoderm (UBERON:0003064)[AAO] uberon urogenital urogenital system urogenital tract BTO:0003091 urogenital tract Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction. VHOG:0000286 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.633 Kidneys and gonads (of vertebrates) develop from adjacent tissues, and after the excretory or urinary ducts have developed, the reproductive system usually taps into them or their derivatives.[well established][VHOG] VHOG VHOG:0000286 http://bgee.unil.ch/ VHOG:0000286 2012-06-20 AAO AAO:0000624 AAO:EJS Anatomical system that has as its parts the organs concerned with the production and excretion of urine and those concerned with reproduction.[AAO] 2012-06-20 AAO AAO:0000624 relationship type change: differentiates_from intermediate mesoderm (AAO:0010575) CHANGED TO: develops_from intermediate mesoderm (UBERON:0003064)[AAO] BTO:0003091 Urogenitalsystem heart tube AAO:0010411 An epithelial tube that will give rise to the mature heart. EFO:0003526 TAO:0000360 UBERON:0004141 XAO:0000337 ZFA:0000360 embryonic heart tube endocardial tube uberon GO:0003143 embryonic heart tube An epithelial tube that will give rise to the mature heart. GO:0003143 GOC:mtg_heart XAO:0000337 endocardial tube bulbus arteriosus A pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches. The bulbus arteriosus has three distinct layers. Hu et al. 2000.[TAO] EFO:0003505 Evolution notes: replaces conus arteriosis in cartilaginous fish TAO:0000173 The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA]. UBERON:0004152 ZFA:0000173 truncus uberon 2012-08-14 A pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches. The bulbus arteriosus has three distinct layers. Hu et al. 2000.[TAO] TAO TAO:0000173 ZFIN:curator GO:0003232 PMID:15108157 The bulbus arteriosus is an elastic heart chamber[GO]. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches[ZFA]. ZFA:0000173 truncus orbitofrontal cortex EFO:0001990 FMA:242003 NIF_GrossAnatomy:birnlex_1049 UBERON:0004167 fronto-orbital cortex note that this is a gyrus in FMA orbital frontal cortex orbito-frontal cortex the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making uberon GO MP GO:0021769 MGI:csmith MP:0004170 the region of the cerebral cortex covering the basal surface of the frontal lobes; this region normally controls emotion and decision making DHB:OFC NIF_GrossAnatomy:birnlex_1049 orbital frontal cortex skeleton AEO:0000168 Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.[VSAO] EHDAA2:0001843 EHDAA:5047 FMA:23875 GAID:177 MA:0003006 MAT:0000032 MESH:A02.835 MIAA:0000032 OpenCyc:Mx4rvVi1rpwpEbGdrcN5Y29ycA SCTID:361378004 UBERON:0004288 VSAO:0000026 Wikipedia:Skeleton XAO:0004053 galen:Skeleton http://purl.obolibrary.org/obo/uberon/references/reference_0000025 set of all bones set of bones of body skeletal uberon 2012-08-14 Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body.[VSAO] GO_REF:0000034, http://dx.plos.org/10.1371/journal.pone.0051070 VSAO VSAO:0000026 Anatomical cluster that consists of all the skeletal elements (eg., bone, cartilage, and teeth) of the body. VSAO:0000026 aortic arch AAO:0010414 EFO:0003695 EHDAA2:0000186 EHDAA:398 EHDAA:7327 EMAPA:16684 One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP] Paired vessels arching from the ventral to the dorsal aorta through the pharyngeal arches. [TFD][VHOG] TAO:0005004 UBERON:0004342 UBERON:0004363 UMLS:C0003489 Usage notes: Do not confuse with arch of aorta. Editor notes: add specific artery derivatives. Development notes: The third, fourth, and sixth arches, along with the seventh intersegmental arteries and the left dorsal aorta, are the primary contributors to the normal aortic arch and its major thoracic branches. Taxon notes: Number varies - Lampreys have 8, hagfishes 15; only up to 6 appear in embryonic development in most gnathostome fishes and all tetrapods VHOG:0000122 When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG] Wikipedia:Aortic_arches XAO:0000341 ZFA:0005004 a. arcuum pharyngeorum aortic arches arteriae arcuum pharyngeorum branchial aortic arches branchial arch artery embryonic aortic arch artery http://upload.wikimedia.org/wikipedia/commons/8/84/Gray473.png http://upload.wikimedia.org/wikipedia/commons/thumb/8/84/Gray473.png/200px-Gray473.png ncithesaurus:Aortic_Arch pharyngeal arch artery uberon Wikipedia:Aortic_arches arteriae arcuum pharyngeorum MP:0002672 One of a series of paired embryological vascular structures formed within a pharyngeal arch; in the adult, some of these vessels give rise to the great vessels[MP] VHOG:0000122 EMAPA:16684 branchial arch artery MP:0002672 pharyngeal arch artery VHOG:0000122 pharyngeal arch artery 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620 VHOG VHOG:0000122 When vertebrates first appeared, they must have possessed a ventral and dorsal aorta with aortic arches between them.[well established][VHOG] http://bgee.unil.ch/ ZFIN:ZDB-PUB-080512-6 branchial aortic arches ZFA:0005004 aortic arches 2012-09-17 Paired vessels arching from the ventral to the dorsal aorta through the pharyngeal arches. [TFD][VHOG] VHOG VHOG:0000122 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/aortic+arches EMAPA:16684 MP:0002672 embryonic aortic arch artery ZFA Wikipedia:Aortic_arches a. arcuum pharyngeorum true tarsal region CALOHA:TS-2219 EFO:0001409 EMAPA:19133 FMA:9665 GAID:41 MA:0000043 MESH:A01.378.610.250.149 MESH:A13.473.821 OpenCyc:Mx4rvVi-R5wpEbGdrcN5Y29ycA SCTID:361292008 UBERON:0002388 UBERON:0004454 Wikipedia:Ankle ankle ankle region articulatio talocruralis galen:Ankle hind basipodium hind mesopodium hock http://upload.wikimedia.org/wikipedia/commons/b/bf/Ankle_en.svg http://upload.wikimedia.org/wikipedia/commons/thumb/b/bf/Ankle_en.svg/200px-Ankle_en.svg.png mesopodial segment of the pes, including the tarsal skeleton and associated tissues. note that this term refers to the limb segment. See also: tarsal bones and tarsal skeleton. AO notes: MA has both tarsus (part of foot, has tarsal bone) and ankle (part of hindlimb, has joint, nerve, skin). tarsal limb segment uberon MA:th hind mesopodium Wikipedia:Ankle https://orcid.org/0000-0002-6601-2165 mesopodial segment of the pes, including the tarsal skeleton and associated tissues. MA:0000043 ankle Wikipedia:Ankle articulatio talocruralis MA:th hind basipodium Wikipedia:Hock_(anatomy) hock cardiovascular system AAO:0011001 Anatomical system that has as its parts the heart and blood vessels. BILA:0000016 BTO:0000088 CALOHA:TS-1297 CV system EFO:0000791 EHDAA2:0000216 EHDAA:394 EMAPA:16104 EMAPA:16370 EV:0100017 FMA:7161 GAID:467 Herz und Gefaesssystem MA:0000010 MAT:0000016 MESH:A07 MIAA:0000016 OpenCyc:Mx4rvVjzG5wpEbGdrcN5Y29ycA SCTID:278198007 TAO:0000010 The vessels of the cardiovascular system are as varied as the diverse organs they supply. However, these variations are based on modifications of a fundamental plan of organization common to vertebrates.[well established][VHOG] UBERON:0004535 UMLS:C0007226 Usage notes: we treat cardiovascular as part of circulatory system, with the latter including other kinds of circulation, including lymph. VHOG:0000302 WikipediaCategory:Cardiovascular_system XAO:0000100 XAO:0001010 ZFA:0000010 ncithesaurus:Cardiovascular_System uberon 2012-09-17 ISBN:978-0072528305 Kardong KV, Vertebrates: Comparative Anatomy, Function, Evolution (2006) p.451 The vessels of the cardiovascular system are as varied as the diverse organs they supply. However, these variations are based on modifications of a fundamental plan of organization common to vertebrates.[well established][VHOG] VHOG VHOG:0000302 http://bgee.unil.ch/ Anatomical system that has as its parts the heart and blood vessels. BTO:0000088 BTO:0000088 Herz und Gefaesssystem BTO:0000088 CV system VHOG:0000302 pharyngula stage A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. Corresponds to E7-E11 in Mouse (Galis et al, TREE, 2001) DrerDO:0000052 EFO:0001310 OGES:000006 UBERON:0004707 Wikipedia:Pharyngula ZFS:0000050 pharyngula phylotypic stage uberon A stage that follows the blastula, gastrula and neurula stages. At the pharyngula stage, all vertebrate embryos show remarkable similarities. Wikipedia:Pharyngula basibranchial bone A basibranchial element that is bone. Basibranchial elements are ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton AAO:0000686 EFO:0003503 Medial element to which other parts of the hyoid apparatus are attached.[AAO] Replacement bone that is ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton.[TAO] TAO:0000170 UBERON:0004740 ZFA:0000170 basibranchial bone basibranchial bones copula I bone relationship loss: develops_from copula (TAO:0001220)[TAO] relationship loss: part_of hyoid apparatus skeleton (AAO:0000682)[AAO] relationship loss: subclass basibranchial element (TAO:0001914)[TAO] uberon A basibranchial element that is bone. Basibranchial elements are ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton TAO:wd UBERON:cjm 2012-06-20 AAO AAO:0000686 AAO:Duellman_and_Trueb_1994 Medial element to which other parts of the hyoid apparatus are attached.[AAO] basibranchial bones 2012-08-14 TAO TAO:0000170 relationship loss: develops_from copula (TAO:0001220)[TAO] 2012-06-20 AAO AAO:0000686 relationship loss: part_of hyoid apparatus skeleton (AAO:0000682)[AAO] TAO:0000170 basibranchial bone 2012-08-14 Replacement bone that is ventral, median, and associated with a single pharyngeal arch in the pharyngeal arch 3-7 skeleton.[TAO] TAO TAO:0000170 ZFIN:curator 2012-08-14 TAO TAO:0000170 relationship loss: subclass basibranchial element (TAO:0001914)[TAO] cleithrum AAO:0000750 Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles. Dermal bone that articulates dorsally with the supracleithrum and ventro-medially with the scapula and coracoid and mesocoracoid bone when the last bone is present. With the posttemporal and supracleithrum, the cleithrum supports the primary pectoral girdle. The cleithrum is located immediately behind the branchial cavity.[TAO] EFO:0003507 Paired bones of intramembranous origin. Each cleithrum extends medially from a point near the suprascapular-scapular articulation to invest the anterior margin of the suprascapula, and occasionoally it may extend to the dorsal (medial) surface. Usually, this bone is bifurcate.[AAO] TAO:0000184 Taxon notes: Found in some early members of Chelonia (e.g. Triassochelys), but missing in all later forms.[VSAO] UBERON:0004741 VSAO:0000187 Wikipedia:Cleithrum ZFA:0000184 cleithra cleithrum bone cleithrum@fr clithra@fr clithrum@fr relationship loss: part_of scapular area (AAO:0000935)[AAO] uberon 2012-06-20 AAO AAO:0000750 relationship loss: part_of scapular area (AAO:0000935)[AAO] TAO:0000184 clithra@fr TAO:0000184 clithrum@fr cleithrum bone Dermal bone on the margin of the scapula. The cleithrum is attached to the skull in fishes, but free from the latter in amphibians and disappears early in the evolution of reptiles. VSAO:0000187 Wikipedia:Cleithrum 2012-08-14 Dermal bone that articulates dorsally with the supracleithrum and ventro-medially with the scapula and coracoid and mesocoracoid bone when the last bone is present. With the posttemporal and supracleithrum, the cleithrum supports the primary pectoral girdle. The cleithrum is located immediately behind the branchial cavity.[TAO] TAO TAO:0000184 TAO:wd Wikipedia TAO:0000184 cleithrum@fr 2012-06-20 AAO AAO:0000750 AAO:LAP Paired bones of intramembranous origin. Each cleithrum extends medially from a point near the suprascapular-scapular articulation to invest the anterior margin of the suprascapula, and occasionoally it may extend to the dorsal (medial) surface. Usually, this bone is bifurcate.[AAO] ZFA:0000184 cleithra dentary AAO:0000124 Dermal bone that is usually the anteriormost bone of the lower jaw, and that articulates with the angular, or anguloarticular bone, posteriorly, and carries part of the mandibular sensory canal and pore openings of the mandibular sensory canal on its lateral surface. The dentary is a paired bone.[TAO] EFO:0003508 Of all these bones [dentary, splenials, coronoids, angular, surangular and prearticular], only the dentary remains in the lower jaw of a mammal.[well established][VHOG] Ossified element of intramembranous origin that invests the lateral margin of Meckel's cartilage thereby forming the lateral side of the mandible in anurans and salamanders (Duellman & Trueb, 1994:293). In caecilians, the dentary is part of a compound bone termed the pseudodentary.[AAO] TAO:0000191 Taxon notes: In lobe-finned fishes and the early fossil tetrapods, the bone homologous to the mandible of mammals is merely the largest of several bones in the lower jaw. In such animals, it is referred to as the dentary bone, and forms the body of the outer surface of the jaw. It is bordered below by a number of splenial bones, while the angle of the jaw is formed by a lower angular bone and a suprangular bone just above it. The inner surface of the jaw is lined by a prearticular bone, while the articular bone forms the articulation with the skull proper. Finally a set of three narrow coronoid bones lie above the prearticular bone. As the name implies, the majority of the teeth are attached to the dentary, but there are commonly also teeth on the coronoid bones, and sometimes on the prearticular as well. This complex primitive pattern has, however, been simplified to various degrees in the great majority of vertebrates, as bones have either fused or vanished entirely. In teleosts, only the dentary, articular, and angular bones remain, while in living amphibians, the dentary is accompanied only by the prearticular, and, in salamanders, one of the coronoids. The lower jaw of reptiles has only a single coronoid and splenial, but retains all the other primitive bones except the prearticular. The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]. The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians. In mammals the lower jaw consists entirely of the dentary bone. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, ZFA:0000191_and_Liem_KF, p.248][VHOG] UBERON:0004742 VHOG:0001022 ZFA:0000191 dentale dentaries dentary bone http://palaeos.com/vertebrates/bones/dermal/images/Dentary1.gif os dentale relationship loss: overlaps dentary-anguloarticular joint (TAO:0001749)[TAO] sur-angulaire uberon 2012-06-20 AAO AAO:0000124 AAO:LAP Ossified element of intramembranous origin that invests the lateral margin of Meckel's cartilage thereby forming the lateral side of the mandible in anurans and salamanders (Duellman & Trueb, 1994:293). In caecilians, the dentary is part of a compound bone termed the pseudodentary.[AAO] 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.248 Of all these bones [dentary, splenials, coronoids, angular, surangular and prearticular], only the dentary remains in the lower jaw of a mammal.[well established][VHOG] VHOG VHOG:0001022 http://bgee.unil.ch/ 2012-08-14 TAO TAO:0000191 relationship loss: overlaps dentary-anguloarticular joint (TAO:0001749)[TAO] 2012-08-14 Dermal bone that is usually the anteriormost bone of the lower jaw, and that articulates with the angular, or anguloarticular bone, posteriorly, and carries part of the mandibular sensory canal and pore openings of the mandibular sensory canal on its lateral surface. The dentary is a paired bone.[TAO] TAO TAO:0000191 TAO:GA_TG AAO:0000124 os dentale The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians, extending to the whole lower jaw in mammals[VHOG,modified]. VHOG:0001022 AAO:0000124 sur-angulaire ZFA:0000191 dentary bone 2012-09-17 The dentary is a dermal bone that forms the antero-lateral part of the lower jaw in fishes and amphibians. In mammals the lower jaw consists entirely of the dentary bone. [Bemis_WE, Functional_Anatomy_of_the_Vertebrates:_An_Evolutionary_Perspective, Grande_L, Third_Edition_(2001)_Orlando_Fla.:_Harcourt_College_Publishers, Walker_WF, ZFA:0000191_and_Liem_KF, p.248][VHOG] VHOG VHOG:0001022 http://bgee.unil.ch/ TAO:0000191 dentaries AAO:0000124 dentale VHOG:0001022 cervix epithelium An epithelium that is part of a uterine cervix [Automatically generated definition]. BTO:0000241 CALOHA:TS-0137 EFO:0001913 Histology notes: The epithelium of the cervix is varied. The ectocervix (more distal, by the vagina) is composed of nonkeratinized stratified squamous epithelium. The endocervix (more proximal, within the uterus) is composed of simple columnar epithelium[http://en.wikipedia.org/wiki/Cervix#Histology] MA:0001724 UBERON:0004801 UMLS:C1711358 cervical canal epithelial tissue cervical canal epithelium cervical epithelium cervix epithelial tissue epithelium of cervix ncithesaurus:Cervix_Epithelium uberon OBOL:automatic cervical canal epithelium OBOL:automatic cervix epithelial tissue OBOL:automatic cervical canal epithelial tissue An epithelium that is part of a uterine cervix [Automatically generated definition]. OBOL:automatic BTO:0000241 cervical epithelium OBOL:automatic epithelium of cervix aorta endothelium An endothelium that is part of an aorta [Automatically generated definition]. BTO:0000394 CALOHA:TS-0047 EFO:0002597 MA:0000701 UBERON:0004851 UMLS:C1706824 adult aorta endothelium endothelium of adult aorta endothelium of aorta endothelium of trunk of aortic tree endothelium of trunk of systemic arterial tree ncithesaurus:Aorta_Endothelium trunk of aortic tree endothelium trunk of systemic arterial tree endothelium uberon OBOL:automatic trunk of aortic tree endothelium An endothelium that is part of an aorta [Automatically generated definition]. OBOL:automatic OBOL:automatic endothelium of trunk of aortic tree OBOL:automatic endothelium of adult aorta OBOL:automatic endothelium of trunk of systemic arterial tree OBOL:automatic adult aorta endothelium OBOL:automatic trunk of systemic arterial tree endothelium OBOL:automatic endothelium of aorta chordamesoderm AAO:0000478 EFO:0003426 Notochord rudiment[ZFIN:ZDB-PUB-961014-576]. TAO:0000091 The central region of trunk mesoderm. This tissue forms the notochord UBERON:0004880 ZFA:0000091 axial chorda mesoderm chorda mesoderm dorsal mesoderm note that WP treats this as synonym of axial mesoderm. Induces neural tube. Gilbert: contains an anterior head process and the notochord. presumptive notochord uberon ZFA:0000091 presumptive notochord UBERONREF:0000002 dorsal mesoderm Notochord rudiment[ZFIN:ZDB-PUB-961014-576]. ZFIN:ZDB-PUB-961014-576 The central region of trunk mesoderm. This tissue forms the notochord https://orcid.org/0000-0002-6601-2165 ZFA:0000091 axial chorda mesoderm mucosa of tongue A mucosa that is part of a tongue [Automatically generated definition]. EFO:0002553 FMA:54807 SCTID:362092002 UBERON:0005020 lingual mucosa mucosa of organ of tongue mucous membrane of tongue organ mucosa of tongue tongue mucosa tongue mucosa of organ tongue mucous membrane tongue organ mucosa tunica mucosa linguae uberon A mucosa that is part of a tongue [Automatically generated definition]. OBOL:automatic OBOL:automatic organ mucosa of tongue OBOL:automatic tongue mucous membrane OBOL:automatic mucosa of organ of tongue OBOL:automatic mucous membrane of tongue OBOL:automatic tongue mucosa of organ FMA:54807 lingual mucosa OBOL:automatic tongue organ mucosa OBOL:automatic tongue mucosa FMA:54807 FMA:TA tunica mucosa linguae neural rod An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube. Kimmel et al, 1995.[TAO] EFO:0003498 TAO:0000133 UBERON:0005068 ZFA:0000133 a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. uberon GO:0014024 ZFA:0000133 a solid rod of neurectoderm derived from the neural keel. The neural rod is roughly circular in cross section. Neural rod formation occurs during primary neurulation in teleosts[GO]. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube[ZFIN]. 2012-08-14 An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube. Kimmel et al, 1995.[TAO] TAO TAO:0000133 ZFIN:curator head mesenchyme EFO:0003492 EHDAA2:0000732 EHDAA:179 EMAPA:16098 EMAPA:16269 Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)[TAO] Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. TAO:0000113 UBERON:0005253 VHOG:0000332 ZFA:0000113 cephalic mesenchyme uberon VHOG:0000332 MP:0011260 cephalic mesenchyme 2012-08-14 Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)[TAO] TAO TAO:0000113 ZFIN:curator ISBN:0683400088 MP:0011260 Portion of primordial embryonic connective tissue of the developing head, consisting of mesenchymal cells supported in interlaminar jelly, that derive mostly from the mesoderm and contribute to head connective tissue, bone and musculature in conjunction with cranial neural crest cells. trunk mesenchyme EFO:0003485 EHDAA2:0002092 EHDAA:377 EMAPA:16177 Mesenchyme that is part of a trunk. TAO:0000081 UBERON:0005256 VHOG:0000281 ZFA:0000081 uberon Mesenchyme that is part of a trunk. OBOL:automatic VHOG:0000281 brain vasculature A vasculature that is part of a brain [Automatically generated definition]. EFO:0003491 FMA:242007 TAO:0000099 UBERON:0005284 ZFA:0000099 uberon vasculature of brain FMA:242007 vasculature of brain A vasculature that is part of a brain [Automatically generated definition]. OBOL:automatic extraembryonic tissue BTO:0003360 CALOHA:TS-2119 EFO:0001406 MAT:0000061 MIAA:0000061 Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. UBERON:0005292 extra-embryonic tissue uberon Portion of tissue that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. https://orcid.org/0000-0002-6601-2165 blastema A blastema is a mass of cells capable of growth and regeneration into organs or body parts. Historically blastema have been thought to be composed of undifferentiated pluripotent cells, but recent research indicates that in some organisms blastema may retain memory of tissue origin.[1] Blastemata are typically found in the early stages of an organism's development such as in embryos, and in the regeneration of tissues, organs and bone[WP]. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise[ZFA]. BTO:0001638 EFO:0003658 Note the ZFA class called 'blastema' belongs with the subclass, blastema of regenerating fin/limb TAO:0001270 UBERON:0005306 Wikipedia:Blastema XAO:0004060 blastemata regeneration blastema uberon blastemata ZFIN:ZDB-PUB-061108-12 regeneration blastema A blastema is a mass of cells capable of growth and regeneration into organs or body parts. Historically blastema have been thought to be composed of undifferentiated pluripotent cells, but recent research indicates that in some organisms blastema may retain memory of tissue origin.[1] Blastemata are typically found in the early stages of an organism's development such as in embryos, and in the regeneration of tissues, organs and bone[WP]. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise[ZFA]. Wikipedia:Blastema ZFA:0001270 ZFIN:ZDB-PUB-061108-12 olfactory lobe (In mammals) Odorant detection is mediated by millions of olfactory sensory neurons located in the olfactory epithelium lining the nasal cavity. These neurons transmit sensory signals to the olfactory bulb of the brain, which in turn sends signals to the olfactory cortex.[well established][VHOG] BTO:0001362 EFO:0000108 EHDAA2_RETIRED:0001294 EHDAA:5480 EMAPA:17778 MA:0002413 MIAA:0000116 Olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone[BTO]. Part of the telencephalon, comprised of paired anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits. In Xenopus,the olfactory bulbs begin to fuse at NF stage 50, fusion is complete around NF stage 58. The cerebral vein loops around the olfactory bulb by NF stage 43[XAO:0004180]. UBERON:0005366 UMLS:C0178780 VHOG:0000833 ncithesaurus:Olfactory_Lobe uberon VHOG:0000833 Part of the telencephalon, comprised of paired anterior outgrowths of either of the cerebral hemispheres in which the olfactory nerve exits. In Xenopus,the olfactory bulbs begin to fuse at NF stage 50, fusion is complete around NF stage 58. The cerebral vein loops around the olfactory bulb by NF stage 43[XAO:0004180]. XAO:0004180 BTO:0001362 Olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone[BTO]. (In mammals) Odorant detection is mediated by millions of olfactory sensory neurons located in the olfactory epithelium lining the nasal cavity. These neurons transmit sensory signals to the olfactory bulb of the brain, which in turn sends signals to the olfactory cortex.[well established][VHOG] 2012-09-17 DOI:10.1111/j.1753-4887.2004.tb00097.x Buck LB, Olfactory receptors and odor coding in mammals. Nutrition Reviews (2008) VHOG VHOG:0000833 http://bgee.unil.ch/ caudate-putamen ABA:CP BM:Tel-C-Pu BTO:0000212 CHECK - rodents. The caudate nucleus and putamen are separated by a clear white matter bundle in most species but not in rodents (MM) EFO:0001912 EMAPA:19095 MA:0000893 NIF_GrossAnatomy:nlx_anat_100312 Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure. UBERON:0005383 caudate putamen caudateputamen caudoputamen uberon NIF_GrossAnatomy:nlx_anat_100312 caudoputamen NIF_GrossAnatomy:nlx_anat_100312 Regional part of telencephalon in some species, e.g., rodent, equivalent to the dorsal striatum (caudate nucleus and putamen). Unlike the dorsal striatum of primates, for example, the caudoputamen is not split into separate nuclei by the fibers of the internal capsule. Rather, the internal capsule splits into fiber bundles which course through the structure. NIF_GrossAnatomy:nlx_anat_100312 caudateputamen ventral striatum ABA:STRv BTO:0004702 EFO:0001936 FMA:77614 MA:0002972 The ventral striatum is a portion of the striatum. It consists of the nucleus accumbens and the olfactory tubercle. Some sources also include the ventromedial parts of the caudate nucleus and putamen. It is considered a reward center. UBERON:0005403 Wikipedia:Ventral_striatum uberon The ventral striatum is a portion of the striatum. It consists of the nucleus accumbens and the olfactory tubercle. Some sources also include the ventromedial parts of the caudate nucleus and putamen. It is considered a reward center. Wikipedia:Ventral_striatum definitive endoderm EFO:0002574 EHDAA2:0000337 EHDAA:218 EMAPA:16070 Embryonic endoderm FMA:85519 UBERON:0005439 VHOG:0000751 uberon Embryonic endoderm FMA:85519 VHOG:0000751 ductus arteriosus A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP] Botallo's duct EFO:0002515 EHDAA2:0000420 EHDAA:6462 EMAPA:17858 FMA:79871 MA:0001947 MESH:A07.541.278.395 On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG] SCTID:253684002 The temporary channel or blood vessel between the aorta and pulmonary artery in the fetus. [TFD][VHOG] UBERON:0005440 UMLS:C0013273 VHOG:0000923 Wikipedia:Ductus_arteriosus arterial canal arterial duct ductus Botallo ductus arteriosis ductus arteriosum ductus botalli ductus layton fetal ductus arteriosus galen:DuctusArteriosus http://upload.wikimedia.org/wikipedia/commons/e/ee/Gray502.png ncithesaurus:Ductus_Arteriosus uberon MP:0010564 fetal ductus arteriosus MP:0010564 arterial canal A fetal blood vessel connecting the pulmonary artery with the descending aorta[MESH]. In the developing fetus, the ductus arteriosus is a shunt connecting the pulmonary artery to the aortic arch. It allows most of the blood from the right ventricle to bypass the fetus' fluid-filled lungs, protecting the lungs from being overworked and allowing the left ventricle to strengthen. There are two other fetal shunts, the ductus venosus and the foramen ovale[MP]. the fetal vessel that connects the left pulmonary artery with the descending aorta; the ductus arteriosus normally regresses into a fibrous cord, the ligamentum arteriousum after birth[MP] MESH:A07.541.278.395 MP:0010564 Wikipedia:Ductus_arteriosus Wikipedia:Ductus_arteriosus ductus layton Wikipedia:Ductus_arteriosus ductus botalli 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.620 On the other hand, in the sister clade of the actinopterygians, the sarcopterygians, the gill circulation is supplemented with lung ventilation. As a result, the pulmonary artery and vein and a functional ductus arteriosus arose as a major evolutionary innovation from the sixth arch, giving the organism a flexible shunt to balance blood supply to and from gills and lungs according to environmental conditions.[well established][VHOG] VHOG VHOG:0000923 http://bgee.unil.ch/ MP:0010564 ductus Botallo Wikipedia:Ductus_arteriosus ductus arteriosum MP:0010564 arterial duct 2012-09-17 The temporary channel or blood vessel between the aorta and pulmonary artery in the fetus. [TFD][VHOG] VHOG VHOG:0000923 http://bgee.unil.ch/ http://medical-dictionary.thefreedictionary.com/ductus+arteriosus VHOG:0000923 Botallo's duct Wikipedia:Ductus_arteriosus Wikipedia:Ductus_arteriosus ductus arteriosis MA hyoid muscle Although the zebrafish occupies a rather derived phylogenetic position within actinopterygians and even within teleosts, with respect to the mandibular, hyoid and hypobranchial muscles it seems justified to consider it an appropriate representative of these two groups. Among these muscles, the three with clear homologues in tetrapods and the further three identified in sarcopterygian fish are particularly appropriate for comparisons of results between the actinopterygian zebrafish and the sarcopterygians.[well established][VHOG] EFO:0003536 EHDAA2:0000794 Editor notes: PMID:19531159 states that facial muscles are hyoid muscles One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. In humans, the muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]. SCTID:244823009 TAO:0000521 UBERON:0005493 UMLS:C0448345 VHOG:0001494 ZFA:0000521 hyoid muscles ncithesaurus:Hyoid_Muscle uberon ZFA:0000521 hyoid muscles VHOG:0001494 One of a group of muscles used in mastication and swallowing. These muscles are attached to the hyoid bone, which is suspended in the neck and forms the base of the tongue and larynx. In humans, the muscles are divided into suprahyoid (superior) or infrahyoid (inferior) groups relative to the bone[WP, generalized]. http://www.answers.com/topic/hyoid-muscles 2012-09-17 Although the zebrafish occupies a rather derived phylogenetic position within actinopterygians and even within teleosts, with respect to the mandibular, hyoid and hypobranchial muscles it seems justified to consider it an appropriate representative of these two groups. Among these muscles, the three with clear homologues in tetrapods and the further three identified in sarcopterygian fish are particularly appropriate for comparisons of results between the actinopterygian zebrafish and the sarcopterygians.[well established][VHOG] DOI:10.1186/1471-213X-8-24 Diogo R, Hinits Y, Hughes SM, Development of mandibular, hyoid and hypobranchial muscles in the zebrafish: homologies and evolution of these muscles within bony fishes and tetrapods. BMC Developmental Biology (2008) VHOG VHOG:0001494 http://bgee.unil.ch/ non-neural ectoderm Development notes: After gastrulation, neural crest cells are specified at the border of the neural plate and the non-neural ectoderm. Editor note: todo - epidermis? todo - track down EHDAA2 class in new release // Gene notes: One of the first genes to be expressed in nonneural ectoderm in amphioxus is BMP2/4 (Panopoulou et al. 1998). BMP2/4 homologues appear to have a very ancient role in distinguishing neural from nonneural ectoderm; in Drosophila as well as in amphioxus and vertebrates, BMP2/4 homologues are expressed in nonneural ectoderm and function in distinguishing neural from nonneural ectoderm (Francois & Bier, 1995 ; Sasai et al. 1995 ; Wilson & Hemmati-Brivanlou, 1995; Panopoulou et al. 1998). A change in level of BMP2/4 from very high in nonneural ectoderm to low in neural ectoderm appears to be a key factor in development of neural crest (Baker & Bronner-Fraser,1997a,1997b;Erickson&Reedy,1998;Marchantet al.1998 ;Selleck et al. 1998) EFO:0003643 EHDAA:257 EMAPA:16074 In the early gastrula of vertebrates, factors from the organizer (e.g. noggin, chordin, and follistatin in Xenopus) antagonize the epidermalizing factor bone morphogenetic protein 4 (BMP4), thus dividing the epiblast into neuroectoderm. In Drosophila, decapentaplegic, the homologue of BMP4, interacts similarly with the protein short gastrulation, the homologue of chordin. Thus, a comparable molecular mechanism for distinguishing non-neural ectoderm from neural ectoderm was probably present in the common ancestor of all bilaterally symmetrical animals.[well established][VHOG] RETIRED_EHDAA2:0001273 TAO:0001178 UBERON:0005497 VHOG:0001372 XAO:0004091 ZFA:0001178 epidermal ectoderm epithelial ectoderm non neural ectoderm surface ectoderm uberon ventral ectoderm ZFA:0001178 ventral ectoderm 2012-09-17 DOI:10.1016/S0959-4388(99)00003-3 Holland LZ and Holland ND, Chordate origins of the vertebrate central nervous system. Current Opinion in Neurobiology (1999) In the early gastrula of vertebrates, factors from the organizer (e.g. noggin, chordin, and follistatin in Xenopus) antagonize the epidermalizing factor bone morphogenetic protein 4 (BMP4), thus dividing the epiblast into neuroectoderm. In Drosophila, decapentaplegic, the homologue of BMP4, interacts similarly with the protein short gastrulation, the homologue of chordin. Thus, a comparable molecular mechanism for distinguishing non-neural ectoderm from neural ectoderm was probably present in the common ancestor of all bilaterally symmetrical animals.[well established][VHOG] VHOG VHOG:0001372 http://bgee.unil.ch/ UBERONREF:0000002 UBERONREF:0000002 epithelial ectoderm UBERONREF:0000002 surface ectoderm UBERONREF:0000002 epidermal ectoderm VHOG:0001372 ZFA:0001178 non neural ectoderm rhombomere 1 1 EFO:0003608 EHDAA2:0001637 EMAPA:16290 EMAPA:16480 EMAPA:16918 EMAPA:17092 Hindbrain segment or neuromere 1. Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0001031 UBERON:0005499 ZFA:0001031 r1 uberon 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0001031 ZFIN:curator Hindbrain segment or neuromere 1. ZFA:0001031 ZFA:0001031 r1 rhombomere 3 3 EFO:0003596 EHDAA2:0001657 EMAPA:16297 EMAPA:16488 EMAPA:16932 EMAPA:17106 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0000948 UBERON:0005507 XAO:0004081 ZFA:0000948 r3 uberon ZFA:0000948 r3 definitional 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0000948 ZFIN:curator rhombomere 4 4 EFO:0003609 EHDAA2:0001667 EMAPA:16301 EMAPA:16492 EMAPA:16939 EMAPA:17113 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0001032 UBERON:0005511 XAO:0004082 ZFA:0001032 r4 uberon 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0001032 ZFIN:curator ZFA:0001032 r4 definitional rhombomere 5 5 EFO:0003580 EHDAA2:0001677 EMAPA:16305 EMAPA:16496 EMAPA:16946 EMAPA:17120 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0000823 UBERON:0005515 XAO:0004083 ZFA:0000823 r5 uberon ZFA:0000823 r5 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0000823 ZFIN:curator definitional rhombomere 6 6 EFO:0003480 EHDAA2:0001687 EMAPA:16500 EMAPA:16953 EMAPA:17127 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0000069 UBERON:0005519 XAO:0004084 ZFA:0000069 r6 uberon 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0000069 ZFIN:curator definitional ZFA:0000069 r6 rhombomere 7 7 EFO:0003597 EHDAA2:0001697 EMAPA:16504 EMAPA:16960 EMAPA:17134 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0000949 UBERON:0005523 ZFA:0000949 r7 uberon 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0000949 ZFIN:curator definitional ZFA:0000949 r7 rhombomere 8 8 EFO:0003500 EHDAA2:0001707 EMAPA:16508 EMAPA:16967 EMAPA:17141 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0000153 UBERON:0005527 ZFA:0000153 r8 uberon definitional ZFA:0000153 r8 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0000153 ZFIN:curator thymus primordium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production. Willett et al, 1999.[TAO] A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. EFO:0003622 EHDAA2:0002023 EHDAA:2969 EMAPA:17523 EMAPA:18536 Editor notes: we follow Kardong table 13.1 in having some developmental contribution of pouch 4 in mammals, but this isn't reflected in EHDAA2. Development notes: Consider adding distinct term for mesenchyme (see EHDAA2), to indicate NC constribution. Taxon notes: variability of developmental origin: In fish, thymic primordia are generated by all the pouches except the first. However, in avians the thymus arises from pouches 3 and 4, whereas in humans it is only generated by the third pouch[PMID:16313389] The thymus arises from the second pouch in frogs, 2-6 in cartilaginous fish, 2-3 in reptiles, 3 or 4 in bony fish, birds and mammals. The final number is variable - 5 paired organs in sharks, 4 in caecilians, 3 in urodeles, 1 in many teleost, anurans and many mammals[ISBN-10:0781714125] TAO:0001077 UBERON:0005562 ZFA:0001077 thymic primordium thymic rudiment uberon A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production[ZFA]. [PMID]. ZFA:0001077 EHDAA2 OBOL:automatic thymic primordium ZFA:0001077 thymic rudiment 2012-08-14 A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production. Willett et al, 1999.[TAO] TAO TAO:0001077 ZFIN:curator trigeminal neural crest Cranial neural crest which gives rise to the trigeminal ganglion. EFO:0003484 EHDAA2:0002083 EHDAA:667 EMAPA:16170 Editor note: todo - compare ZFA and EHDAA2 representation TAO:0000080 UBERON:0005563 VHOG:0000269 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] ZFA:0000080 uberon true 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.43 VHOG VHOG:0000269 We conclude this section by listing some of the many synapomorphies of craniates, including (1) the neural crest (...).[well established][VHOG] http://bgee.unil.ch/ EHDAA2 Cranial neural crest which gives rise to the trigeminal ganglion. ZFA:0000080 VHOG:0000269 ZFA gonad primordium EFO:0003651 EHDAA:5927 EMAPA:17204 Immature reproductive tissue that has not undergone final maturation into either testis or ovary.[TAO] Portion of tissue that gives rise to the immature gonad. RETIRED_EHDAA2:0002148 TAO:0001262 Taxon notes: this is a very broad grouping class UBERON:0005564 WBbt:0008366 ZFA:0001262 gonadal primordium uberon undifferentiated gonad ZFA:0001262 gonadal primordium ZFA ZFA:0001262 undifferentiated gonad 2012-08-14 Immature reproductive tissue that has not undergone final maturation into either testis or ovary.[TAO] TAO TAO:0001262 ZFIN:curator Obol Portion of tissue that gives rise to the immature gonad. ZFA:0001262 rhombomere 1 floor plate EFO:0003584 EHDAA2:0001640 EMAPA:16291 EMAPA:16481 EMAPA:16919 EMAPA:17093 TAO:0000882 UBERON:0005566 ZFA:0000882 floor plate r1 floor plate rhombomere 1 uberon ZFA:0000882 floor plate r1 ZFA:0000882 floor plate rhombomere 1 rhombomere 2 3 EFO:0003579 EHDAA2:0001647 EMAPA:16293 EMAPA:16484 EMAPA:16925 EMAPA:17099 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO:0000822 UBERON:0005569 XAO:0004080 ZFA:0000822 r2 uberon ZFA:0000822 r2 2012-08-14 Hindbrain segment or neuromere. Kimmel et al, 1995.[TAO] TAO TAO:0000822 ZFIN:curator rhombomere 2 floor plate A rhombomere floor plate that is part of a rhombomere 2. EFO:0003568 EHDAA2:0001650 EMAPA:16294 EMAPA:16485 EMAPA:16926 EMAPA:17100 TAO:0000763 UBERON:0005570 ZFA:0000763 floor plate r2 floor plate rhombomere 2 floorplate r2 uberon ZFA:0000763 floor plate rhombomere 2 ZFA:0000763 floor plate r2 A rhombomere floor plate that is part of a rhombomere 2. OBOL:automatic ZFA:0000763 floorplate r2 rhombomere 3 floor plate A rhombomere floor plate that is part of a rhombomere 3. EFO:0003586 EHDAA2:0001660 EMAPA:16298 EMAPA:16489 EMAPA:16933 EMAPA:17107 TAO:0000888 UBERON:0005573 ZFA:0000888 floor plate r3 floor plate rhombomere 3 floorplate r3 uberon ZFA:0000888 floorplate r3 ZFA:0000888 floor plate r3 ZFA:0000888 floor plate rhombomere 3 A rhombomere floor plate that is part of a rhombomere 3. OBOL:automatic rhombomere 4 floor plate A rhombomere floor plate that is part of a rhombomere 4. EFO:0003588 EHDAA2:0001670 EMAPA:16302 EMAPA:16493 EMAPA:16940 EMAPA:17114 TAO:0000893 UBERON:0005576 ZFA:0000893 floor plate r4 floor plate rhombomere 4 floorplate r4 uberon A rhombomere floor plate that is part of a rhombomere 4. OBOL:automatic ZFA:0000893 floor plate rhombomere 4 ZFA:0000893 floor plate r4 ZFA:0000893 floorplate r4 rhombomere 5 floor plate A rhombomere floor plate that is part of a rhombomere 5. EFO:0003569 EHDAA2:0001680 EMAPA:16306 EMAPA:16497 EMAPA:16947 EMAPA:17121 TAO:0000764 UBERON:0005579 ZFA:0000764 floor plate r5 floor plate rhombomere 5 floorplate r5 uberon ZFA:0000764 floor plate rhombomere 5 A rhombomere floor plate that is part of a rhombomere 5. OBOL:automatic ZFA:0000764 floor plate r5 ZFA:0000764 floorplate r5 rhombomere 6 floor plate A rhombomere floor plate that is part of a rhombomere 6. EFO:0003587 EHDAA2:0001690 EMAPA:16501 EMAPA:16954 EMAPA:17128 TAO:0000889 UBERON:0005582 ZFA:0000889 floor plate r6 floor plate rhombomere 6 floorplate r6 uberon A rhombomere floor plate that is part of a rhombomere 6. OBOL:automatic ZFA:0000889 floor plate r6 ZFA:0000889 floor plate rhombomere 6 ZFA:0000889 floorplate r6 rhombomere 7 floor plate A rhombomere floor plate that is part of a rhombomere 7. EFO:0003589 EHDAA2:0001700 EMAPA:16505 EMAPA:16961 EMAPA:17135 TAO:0000904 UBERON:0005585 ZFA:0000904 floor plate r7 floor plate rhombomere 7 floorplate r7 uberon ZFA:0000904 floor plate r7 ZFA:0000904 floorplate r7 ZFA:0000904 floor plate rhombomere 7 A rhombomere floor plate that is part of a rhombomere 7. OBOL:automatic rhombomere 8 floor plate A rhombomere floor plate that is part of a rhombomere 8. EFO:0003570 EHDAA2:0001709 EMAPA:16509 EMAPA:16968 EMAPA:17142 TAO:0000765 UBERON:0005588 ZFA:0000765 floor plate r8 floor plate rhombomere 8 floorplate r8 uberon ZFA:0000765 floor plate rhombomere 8 ZFA:0000765 floor plate r8 A rhombomere floor plate that is part of a rhombomere 8. OBOL:automatic ZFA:0000765 floorplate r8 pronephric mesoderm A mesoderm that develops_into a pronephros. AAO:0011090 EFO:0003479 Portion of tissue that consists of the mesenchymal precursor to the pronephric kidney and that begins to separate from the intermediate mesoderm at NF stage 21 and epithelializes by NF stage 30.[AAO] TAO:0000067 UBERON:0005721 VHOG:0001239 XAO:0000264 ZFA:0000067 pronephric anlage pronephric bulge pronephric mesenchyme pronephric primordium the intermediate mesoderm of the chick embryo acquires its ability to form kidneys through its interactions with the paraxial mesoderm [ISBN:9780878932504 "Developmental Biology", PMID:10720431 "Signals from trunk paraxial mesoderm induce pronephros formation in chick intermediate mesoderm"]. These interactions induce the expression of TFs including Lim1, Pax2 and Pax6 that cause the intermediate mesoderm to form the kidney uberon XAO:0000264 pronephric mesenchyme XAO:0000264 pronephric bulge XAO:0000264 pronephric primordium A mesoderm that develops_into a pronephros. OBOL:automatic definitional XAO:0000264 pronephric anlage 2012-06-20 AAO AAO:0011090 Portion of tissue that consists of the mesenchymal precursor to the pronephric kidney and that begins to separate from the intermediate mesoderm at NF stage 21 and epithelializes by NF stage 30.[AAO] XAO:curator VHOG:0001239 olfactory system A sensory system that is capable of olfacttion (the sensory perception of smell). AAO:0000334 AAO:0000978 BILA:0000144 EFO:0001973 FMA:7190 In mammals, the main olfactory system detects odorants that are inhaled through the nose, where they contact the main olfactory epithelium, which contains various olfactory receptors. These olfactory receptors are membrane proteins of bipolar olfactory receptor neurons in the olfactory epithelium. Rather than binding specific ligands like most receptors, olfactory receptors display affinity for a range of odor molecules. Olfactory neurons transduce receptor activation into electrical signals in neurons. The signals travel along the olfactory nerve, which belongs to the peripheral nervous system. This nerve terminates in the olfactory bulb, which belongs to the central nervous system. The complex set of olfactory receptors on different olfactory neurons can distinguish a new odor from the background environmental odors and determine the concentration of the odor // Editor note: consider splitting into main and accessory. See also: vomeronasal organ // note we make the relationship to nervous system 'overlaps', as the olfactory system includes e.g. apertures in the cranium that are not part of the nervous system MA:0002445 NIF_GrossAnatomy:nlx_anat_090806 OpenCyc:Mx4rvViw75wpEbGdrcN5Y29ycA SCTID:362290002 TAO:0001149 The olfactory system is the sensory system used for olfaction, or the sense of smell. Most mammals and reptiles have two distinct parts to their olfactory system: a main olfactory system and an accessory olfactory system. The main olfactory system detects volatile, airborne substances, while the accessory olfactory system senses fluid-phase stimuli. Behavioral evidence indicates that most often, the stimuli detected by the accessory olfactory system are pheromones. The olfactory system is often spoken of along with the gustatory system as the chemosensory senses because both transduce chemical signals into perception[WP][Wikipedia:Olfactory_system]. The sensory system used for olfaction (the sense of smell).[AAO] UBERON:0005725 UMLS:C0228065 Wikipedia:Olfactory_system XAO:0003196 ZFA:0001149 ncithesaurus:Olfactory_System uberon 2012-06-20 AAO AAO:0000978 AAO:EJS The sensory system used for olfaction (the sense of smell).[AAO] A sensory system that is capable of olfacttion (the sensory perception of smell). UBERON:cjm The olfactory system is the sensory system used for olfaction, or the sense of smell. Most mammals and reptiles have two distinct parts to their olfactory system: a main olfactory system and an accessory olfactory system. The main olfactory system detects volatile, airborne substances, while the accessory olfactory system senses fluid-phase stimuli. Behavioral evidence indicates that most often, the stimuli detected by the accessory olfactory system are pheromones. The olfactory system is often spoken of along with the gustatory system as the chemosensory senses because both transduce chemical signals into perception[WP][Wikipedia:Olfactory_system]. Wikipedia:Olfactory_system olfactory pit AAO:0011068 An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]. By the upgrowth of the surrounding parts the olfactory areas are converted into pits, the nasal pits or olfactory pits, which indent the fronto-nasal process and divide it into a medial and two lateral nasal processes[Wikipedia:Nasal_pit]. EFO:0003496 EHDAA2:0001295 EHDAA:4772 EMAPA:16800 SCTID:361485001 UBERON:0005870 Wikipedia:Nasal_pit XAO:0000275 XAO:0004073 nasal pit uberon we represent the relationship as develops from, though in fact the pit is formed as an indentation in the placode XAO:0000275 nasal pit By the upgrowth of the surrounding parts the olfactory areas are converted into pits, the nasal pits or olfactory pits, which indent the fronto-nasal process and divide it into a medial and two lateral nasal processes[Wikipedia:Nasal_pit]. Wikipedia:Nasal_pit An indentation of the olfactory placode which ends when the pits hollows out to form the nasopharynx[GO]. GO:0060166 Wikipedia:Nasal_pit EMAPA XAO:0000275 nasal pit neurocranial trabecula EFO:0003677 TAO:0001321 UBERON:0005945 ZFA:0001321 neurocranial trabeculae trabecula trabecular cartilage uberon ZFA ZFA:0001321 trabecula ZFA:0001321 neurocranial trabeculae ZFA:0001321 trabecular cartilage ZFA Perirhinal cortex ABA:PERI BM:Tel-Cx-PRh BTO:0004355 EFO:0001978 MA:0000912 NIF_GrossAnatomy:nlx_anat_1005006 UBERON:0006083 perirhinal area perirhinal cortex uberon NIF_GrossAnatomy:nlx_anat_1005006 perirhinal cortex NIF_GrossAnatomy:nlx_anat_1005006 perirhinal area future spinal cord EFO:0003438 EHDAA2:0000674 EHDAA:898 EMAPA:16092 EMAPA:16525 EMAPA:16755 TAO:0000417 UBERON:0006241 ZFA:0000417 presumptive spinal cord presumptive spinal cord neural keel presumptive spinal cord neural plate presumptive spinal cord neural rod uberon TAO:0000417 presumptive spinal cord neural keel TAO:0000417 presumptive spinal cord neural rod ZFA:0000417 presumptive spinal cord TAO:0000417 presumptive spinal cord neural plate posterior lateral line AAO:0011024 EFO:0003595 One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO] TAO:0000944 UBERON:0006334 XAO:0000465 ZFA:0000944 check XAO/AAO pll relationship loss: develops_from posterior lateral line primordium (TAO:0001157)[TAO] relationship loss: part_of posterior lateral line system (TAO:0001471)[TAO] uberon 2012-08-14 TAO TAO:0000944 relationship loss: part_of posterior lateral line system (TAO:0001471)[TAO] One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) ZFA:0000944 2012-08-14 TAO TAO:0000944 relationship loss: develops_from posterior lateral line primordium (TAO:0001157)[TAO] ZFA:0000944 pll 2012-08-14 One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO] TAO TAO:0000944 ZFIN:curator seminal fluid The fluid portion of the semen, in which the spermatozoa are suspended[BTO]. Usage notes: we follow FMA and make this class a generic superclass of the secretions of different glands (prostate, bulbo-urethreal, seminal vesicle). MA (and ncit) follows a mixture model, where these secretions are part of the seminal fluid // Taxon notes: This term covers a variety of species. Example: In D. melanogaster, seminal fluid proteins affect female receptivity, ovulation, oogenesis, sperm storage, sperm competition and mating plug formation [doi:10.1046/j.1365-2540.2001.00961.x]. Note that ths intology contains a number of subtypes of seminal fluid, defined according to glands (which are more taxonomically restricted) BTO:0001232 CALOHA:TS-0918 FMA:62967 MA:0002523 MAT:0000057 MIAA:0000057 UBERON:0006530 male genital fluid male genital secretion seminal fluid seminal plasma uberon presumptive endoderm AAO:0000471 EFO:0003437 TAO:0000416 UBERON:0006595 ZFA:0000416 uberon presumptive blood AAO:0000468 EFO:0003439 TAO:0000568 UBERON:0006596 ZFA:0000568 uberon presumptive hypochord AAO:0000474 EFO:0003453 TAO:0001217 UBERON:0006599 ZFA:0001217 uberon presumptive enteric nervous system AAO:0000472 EFO:0003462 TAO:0001334 UBERON:0006600 ZFA:0001334 uberon presumptive ectoderm AAO:0000470 EFO:0003466 Editors note: requires review. ZFA def: Presumptive structure at the animal poll of the blastula that will develop into ectoderm via the epiblast. Determined by fate mapping TAO:0001376 UBERON:0006601 XAO:0004132 ZFA:0001376 presumptive epidermis uberon ZFA:0001376 presumptive epidermis presumptive mesoderm AAO:0000476 EFO:0003467 Editors note: requires review TAO:0001377 UBERON:0006603 ZFA:0001377 uberon swim bladder A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous). May function as one or more of:- hydrostatic organ, sound producing organ, sound receptor, respiratory organ. Found in Actinopterygii. Often lacking in bottom fishes. BTO:0001607 BTO:0002148 Cavitated compound organ that is double-chambered, located in the coelom and used to maintain buoyancy and may function as an acoustic resonator.[TAO] EFO:0003483 Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG] SCTID:64748009 TAO:0000076 UBERON:0006860 UBERON:0008980 VHOG:0000310 ZFA:0000076 air bladder gas bladder swimbladder uberon VHOG:0000310 ZFA:0000076 gas bladder http://www.briancoad.com/Dictionary/S.htm 2012-09-17 ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.210, DOI:10.1371/journal.pone.0024019 Zheng W, Wang Z, Collins JE, Andrews RM, Stemple D, Gong Z, Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung. PLoS One (2011) Lungs had already developed as paired ventral pockets from the intestine in the ancestor of Osteognathostomata. (...) In actinopterygian fishes, apart from Cladistia, the ventral intestinal pocket migrates dorsally and becomes the swim-bladder, a mainly hydrostatical organ (reference 1); Comparative transcriptome analyses indicate molecular homology of zebrafish swimbladder and Mammalian lung (reference 2).[well established][VHOG] VHOG VHOG:0000310 http://bgee.unil.ch/ TAO:0000076 air bladder 2012-08-14 Cavitated compound organ that is double-chambered, located in the coelom and used to maintain buoyancy and may function as an acoustic resonator.[TAO] TAO TAO:0000076 ZFIN:curator A thin membranous, sometimes alveolated sac in the dorsal portion of the abdominal cavity. Contains a varying mixture of gases, not identical to the composition of air. May be one, two or three chambered. May be connected to the gut by a tube, the ductus pneumaticus (then called physostomous) or unconnected (then called physoclistous). May function as one or more of:- hydrostatic organ, sound producing organ, sound receptor, respiratory organ. Found in Actinopterygii. Often lacking in bottom fishes. http://www.briancoad.com/Dictionary/S.htm TAO:0000076 swimbladder head mesenchyme from mesoderm A head mesenchyme that develops_from a mesoderm. AAO:0011051 EFO:0003337 EFO:0003603 EHDAA2:0001118 EHDAA:655 EMAPA:16099 EMAPA:16270 Editor note: merged in 'head mesoderm' from XAO/AAO and EFO here. Partially implements UBERONREF:0000002 NC meeting scheme TAO:0000998 UBERON:0006904 VHOG:0000185 XAO:0000053 ZFA:0000998 cranial mesoderm head mesenchyme derived from mesoderm head mesenchyme from head mesoderm head mesenchyme from mesoderm head mesoderm mesenchyme derived from head mesoderm mesenchyme from head mesoderm uberon VHOG:0000185 A head mesenchyme that develops_from a mesoderm. OBOL:automatic EHDAA2:0001118 head mesenchyme from head mesoderm ZFA AAO:0011051 UBERON:0005280 head mesoderm EHDAA:1057 mesenchyme derived from head mesoderm UBERON:0005280 cranial mesoderm EHDAA2 vascular cord EFO:0003709 TAO:0005077 The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. UBERON:0006965 ZFA:0005077 uberon GO:0072360 The vascular cord is the primordial vasculature that will develop into blood vessels by the process of tubulogenesis[GO]. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels[ZFA]. ZFA:0005077 chordo neural hinge Although there is mounting evidence showing the comparability of events and formation of different nascent tissue types during gastrulation and tail development, recent work also suggests the presence of an ongoing stem cell population capable of contributing to multiple tissue types in the tail of several different vertebrates, situated in the chordoneural hinge region of the tail bud. It would seem likely that secondary signaling centers regulate the fate to be adopted by such pluripotent progenitors.[well established][VHOG] EFO:0003623 In mouse and chick, the derivative of the NSB (with a minor contribution from the CLE), the `chordo-neural-hinge'(CNH) (Cambray and Wilson, 2007; Catala et al., 1995; Charrier et al., 1999), contains progenitors for the ventral neural tube, somites and notochord (Cambray and Wilson, 2002; McGrew et al., 2008). The CNH is continuous with the most recently formed neural tube and notochord (Fig. 2C-D′). By contrast, the tissue immediately caudal to the CNH exclusively produces somites in mouse and chick (McGrew et al., 2008). Portion of tissue is a posterior to the developing notochord during tailbud extension.[TAO] Portion of tissue that is posterior to the developing notochord during tail bud extension. TAO:0001082 UBERON:0007097 VHOG:0001382 XAO:0000108 ZFA:0001082 chordoneural hinge uberon VHOG:0001382 chordoneural hinge Portion of tissue that is posterior to the developing notochord during tail bud extension. ZFA:0001082 http://dev.biologists.org/content/136/10/1591.full VHOG:0001382 2012-08-14 Portion of tissue is a posterior to the developing notochord during tailbud extension.[TAO] TAO TAO:0001082 ZFIN:curator 2012-09-17 Although there is mounting evidence showing the comparability of events and formation of different nascent tissue types during gastrulation and tail development, recent work also suggests the presence of an ongoing stem cell population capable of contributing to multiple tissue types in the tail of several different vertebrates, situated in the chordoneural hinge region of the tail bud. It would seem likely that secondary signaling centers regulate the fate to be adopted by such pluripotent progenitors.[well established][VHOG] DOI:10.1002/dvdy.20017 Liu C, Knezevic V, Mackem S, Ventral tail bud mesenchyme is a signaling for tail paraxial mesoderm induction. Developmental Dynamics (2004) VHOG VHOG:0001382 http://bgee.unil.ch/ venom Poisonous animal secretions forming fluid mixtures of many different enzymes, toxins, and other substances. These substances are produced in specialized glands and secreted through specialized delivery systems (nematocysts, spines, fangs, etc.) for disabling prey or predator. BTO:0001439 MESH:A12.200.935 Note we include a separate class for snake venom UBERON:0007113 Wikipedia:Venom uberon zootoxin pharyngeal pouch 1 1st arch branchial pouch 1st arch branchial pouch endoderm 1st arch pouch endoderm 1st branchial pouch 1st pharyngeal pouch endoderm A pouch that is situated between the 1st and 2nd pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] AAO:0011114 EFO:0003631 EHDAA2:0000016 EMAPA:16124 First of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] In all jawed vertebrates the first arch forms the jaw, while the second arch forms the hyoid apparatus. These two arches are separated by the first pharyngeal pouch and cleft.[well established][VHOG] SCTID:345248006 TAO:0001128 The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID] UBERON:0005718 UBERON:0007122 UMLS:C0231068 VHOG:0000555 VHOG:0000970 Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch XAO:0000102 ZFA:0001128 first arch pharyngeal pouch first pharyngeal pouch first visceral pouch hyomandibular pouch ncithesaurus:First_Pharyngeal_Pouch pharyngeal pouches 1 uberon visceral pouch 1 we use adjacency relations rather than part_of, as in EHDAA2 XAO:0000102 first visceral pouch 2012-06-20 AAO AAO:0011114 First of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] ISBN:0-226-55763-4 1st pharyngeal pouch endoderm VHOG:0000555 1st arch branchial pouch EHDAA2:0000013 PMID:16313389 The endoderm lines the future auditory tube (Pharyngotympanic Eustachian tube) , middle ear, mastoid antrum, and inner layer of the tympanic membrane. & origin of Mandibular nerve & Maxillary artery[WP]. The first pouch lies between the first and second arches[PMID] Wikipedia:Pharyngeal_pouch_(embryology)#First_pouch VHOG:0000555 OBOL:automatic first arch pharyngeal pouch XAO:0000102 visceral pouch 1 1st arch branchial pouch endoderm EHDAA2:0000016 ZFA:0001128 pharyngeal pouches 1 VHOG:0000970 first pharyngeal pouch 1st arch pouch endoderm EHDAA2:0000016 2012-09-17 DOI:10.1016/j.semcdb.2010.01.022 Grevellec A, Tucker AS, The pharyngeal pouches and clefts: development, evolution, structure and derivatives. Seminars in Cell and Developmental Biology (2010) In all jawed vertebrates the first arch forms the jaw, while the second arch forms the hyoid apparatus. These two arches are separated by the first pharyngeal pouch and cleft.[well established][VHOG] VHOG VHOG:0000970 http://bgee.unil.ch/ 2012-09-17 A pouch that is situated between the 1st and 2nd pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] VHOG VHOG:0000970 http://bgee.unil.ch/ pharyngeal pouch 2 2nd arch branchial pouch 2nd arch branchial pouch endoderm 2nd arch pouch endoderm 2nd branchial pouch 2nd pharyngeal pouch endoderm A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] A pouch that is situated between the 2nd and 3rd pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] AAO:0011115 EFO:0003633 EHDAA2:0000058 EMAPA:16275 EMAPA:16276 RETIRED_EHDAA2:0000060 SCTID:345349000 Second of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] TAO:0001130 The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP] UBERON:0005715 UBERON:0007123 UMLS:C0231069 VHOG:0000561 VHOG:0000967 Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch XAO:0000247 ZFA:0001130 ncithesaurus:Second_Pharyngeal_Pouch pharyngeal pouches 2 second arch pharyngeal pouch second pharyngeal pouch second visceral pouch uberon visceral pouch 2 PMID:16313389 The second pouch between the second and third arches. Contributes to the middle ear, epithelial lining of Crypts (spaces) of the palatine tonsils, supplied by the facial nerve[WP] Wikipedia:Pharyngeal_pouch_(embryology)#Second_pouch 2012-09-17 A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005) VHOG VHOG:0000967 http://bgee.unil.ch/ XAO:0000247 visceral pouch 2 OBOL:automatic second arch pharyngeal pouch 2nd pharyngeal pouch endoderm VHOG:0000561 XAO:0000247 second visceral pouch 2nd arch branchial pouch endoderm EHDAA2:0000061 2nd arch branchial pouch RETIRED_EHDAA2:0000060 2nd arch pouch endoderm EHDAA2:0000058 2012-09-17 A pouch that is situated between the 2nd and 3rd pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] VHOG VHOG:0000967 http://bgee.unil.ch/ 2012-06-20 AAO AAO:0011115 ISBN:0-226-55763-4 Second of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] VHOG:0000561 ZFA:0001130 pharyngeal pouches 2 VHOG:0000967 second pharyngeal pouch pharyngeal pouch 3 3rd arch branchial pouch 3rd arch branchial pouch endoderm 3rd branchial pouch 3rd pharyngeal pouch endoderm A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] A pouch that is situated between the 3rd and 4th pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] AAO:0011116 EFO:0003634 EHDAA2:0000077 EMAPA:16586 RETIRED_EHDAA2:0000076 SCTID:345450001 TAO:0001131 The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID]. Third of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] UBERON:0005716 UBERON:0007124 UMLS:C0231070 VHOG:0000966 VHOG:0001030 Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch XAO:0000251 ZFA:0001131 ncithesaurus:Third_Pharyngeal_Pouch pharyngeal pouches 3 third arch pharyngeal pouch third pharyngeal pouch third visceral pouch uberon visceral pouch 3 2012-09-17 A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005) VHOG VHOG:0000966 http://bgee.unil.ch/ ZFA:0001131 pharyngeal pouches 3 XAO:0000251 visceral pouch 3 PMID:16313389 The third pouch possesses Dorsal and Ventral wings. Derivatives of the dorsal wings include the inferior parathyroid glands, while the ventral wings fuse to form the cytoreticular cells of the thymus. The main nerve supply to the derivatives of this pouch is Cranial Nerve IX, glossopharyngeal nerve[WP]. The third pouch lies between the third and fourth arches[PMID]. Wikipedia:Pharyngeal_pouch_(embryology)#Third_pouch OBOL:automatic third arch pharyngeal pouch XAO:0000251 third visceral pouch 2012-06-20 AAO AAO:0011116 ISBN:0-226-55763-4 Third of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] 2012-09-17 A pouch that is situated between the 3rd and 4th pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] VHOG VHOG:0000966 http://bgee.unil.ch/ 3rd pharyngeal pouch endoderm VHOG:0001030 3rd arch branchial pouch endoderm EHDAA2:0000077 VHOG:0000966 third pharyngeal pouch 3rd arch branchial pouch RETIRED_EHDAA2:0000076 VHOG:0000966 pharyngeal pouch 4 4th arch branchial pouch 4th arch branchial pouch endoderm 4th branchial pouch 4th pharyngeal pouch endoderm A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] A pouch that is situated between the 4th and 5th pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland. Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP] AAO:0011117 EFO:0003637 EHDAA2:0000091 EMAPA:16766 Fourth of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] RETIRED_EHDAA2:0000090 SCTID:362858001 TAO:0001134 UBERON:0007125 UMLS:C0231071 VHOG:0000578 VHOG:0000971 Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch XAO:0000254 ZFA:0001134 fourth arch pharyngeal pouch fourth pharyngeal pouch fourth visceral pouch ncithesaurus:Fourth_Pharyngeal_Pouch pharyngeal pouches 4 todo - check relationships uberon visceral pouch 4 4th pharyngeal pouch endoderm VHOG:0000578 2012-09-17 A pouch that is situated between the 4th and 5th pharyngeal arch. [The_anatomical_basis_of_mouse_development_(1999)_San_Diego:_Academic_Press, p.72, see_Kaufman_MH_and_Bard_JBL][VHOG] VHOG VHOG:0000971 http://bgee.unil.ch/ A pouch that is situated between the 4th and 5th pharyngeal arch[Bard]. Derivatives include: superior parathyroid glands and ultimobranchial body which forms the parafollicular C-Cells of the thyroid gland. Musculature and cartilage of larynx (along with the sixth pharyngeal pouch)[WP] PMID:16313389 Wikipedia:Pharyngeal_pouch_(embryology)#Fourth_pouch OBOL:automatic fourth arch pharyngeal pouch VHOG:0000971 fourth pharyngeal pouch XAO:0000254 fourth visceral pouch 4th arch branchial pouch endoderm EHDAA2:0000091 XAO:0000254 visceral pouch 4 VHOG:0000578 4th arch branchial pouch RETIRED_EHDAA2:0000090 2012-09-17 A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M and Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005) VHOG VHOG:0000971 http://bgee.unil.ch/ ZFA:0001134 pharyngeal pouches 4 2012-06-20 AAO AAO:0011117 Fourth of the pharyngeal (endodermal) evaginations between the visceral arches from which the Eustachian tube is derived; pouches 2-4 open as gill slits.[AAO] ISBN:0-226-55763-4 pharyngeal pouch 5 5th branchial pouch 5th pharyngeal pouch 5th visceral pouch A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] AAO:0011118 EFO:0003636 Fifth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO] Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP]. TAO:0001133 UBERON:0007126 UMLS:C1517185 VHOG:0001206 Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch XAO:0000255 ZFA:0001133 fifth pharyngeal pouch fifth visceral pouch ncithesaurus:Fifth_Pharyngeal_Pouch pharyngeal pouches 5 pouches 5 and 6 are hard to distinguish uberon visceral pouch 5 VHOG:0001206 fifth pharyngeal pouch Rudimentary structure, becomes part of the fourth pouch contributing to thyroid C-cells[WP]. Wikipedia:Pharyngeal_pouch_(embryology)#Fifth_pouch ZFA:0001133 pharyngeal pouches 5 VHOG:0001206 5th pharyngeal pouch VHOG:0001206 XAO:0000255 fifth visceral pouch XAO:0000255 visceral pouch 5 2012-09-17 A conserved feature of all vertebrate embryos is the presence of a series of bulges on the lateral surface of the head, the pharyngeal arches; it is within these structures that the nerves, muscles and skeletal components of the pharyngeal apparatus are laid down. The pharyngeal arches are separated by endodermal outpocketings, the pharyngeal pouches.[well established][VHOG] DOI:10.1111/j.1469-7580.2005.00472.x Graham A, Okabe M, Quinlan R, The role of the endoderm in the development and evolution of the pharyngeal arches. J Anat (2005) VHOG VHOG:0001206 http://bgee.unil.ch/ 5th visceral pouch VHOG:0001206 VHOG:0001206 fifth visceral pouch 2012-06-20 AAO AAO:0011118 Fifth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO] ISBN:0-226-55763-4 pharyngeal pouch 6 6th arch branchial pouch 6th branchial pouch AAO:0011119 Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP]. EFO:0003635 Sixth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO] TAO:0001132 UBERON:0007127 Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch XAO:0000265 ZFA:0001132 pharyngeal pouches 6 pouches 5 and 6 are hard to distinguish sixth visceral pouch uberon visceral pouch 6 2012-06-20 AAO AAO:0011119 ISBN:0-226-55763-4 Sixth of the pharyngeal (endodermal) evaginations between the visceral arches.[AAO] XAO:0000265 visceral pouch 6 XAO:0000265 sixth visceral pouch Along with the fourth pouch, contributes to the formation of the musculature and cartilage of the larynx[WP]. Wikipedia:Pharyngeal_pouch_(embryology)#Sixth_pouch ZFA:0001132 pharyngeal pouches 6 neural keel An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. Kimmel et al, 1995.[TAO] EFO:0003497 TAO:0000131 UBERON:0007135 ZFA:0000131 presumptive central nervous system uberon An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. ZFIN:ZDB-PUB-961014-576 2012-08-14 An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. Kimmel et al, 1995.[TAO] TAO TAO:0000131 ZFIN:curator ZFA:0000131 presumptive central nervous system mesenchyme derived from head neural crest EFO:0003572 EHDAA2:0000735 EMAPA:16100 EMAPA:16169 EMAPA:16271 EMAPA_RETIRED:16271 Mesenchyme that develops_from a cranial neural crest. TAO:0000787 UBERON:0007213 ZFA:0000787 head mesenchyme from cranial neural crest head mesenchyme from neural crest head neural crest derived mesenchyme uberon ZFA EHDAA2:0000735 head mesenchyme from neural crest Mesenchyme that develops_from a cranial neural crest. OBOL:automatic presumptive hindbrain CALOHA:TS-2118 EFO:0003440 EHDAA2:0001630 TAO:0000569 TODO - unify naming conventions The embryonic rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. Rhombomeres Rh7-Rh4 form the myelencephalon that will give the medulla oblongata. Rhombomeres Rh3-Rh1 form the metencephalon that will form the pons and the cerebellum[NPX:PDR]. The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, "rhombencephalosynapsis" is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. UBERON:0007277 Wikipedia:Rhombencephalon ZFA:0000569 embryonic rhombencephalon future hindbrain rhombencephalon uberon CALOHA:TS-2118 embryonic rhombencephalon NPX:PDR The embryonic rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. Rhombomeres Rh7-Rh4 form the myelencephalon that will give the medulla oblongata. Rhombomeres Rh3-Rh1 form the metencephalon that will form the pons and the cerebellum[NPX:PDR]. The rhombencephalon (or hindbrain) is a developmental categorization of portions of the central nervous system in vertebrates. The rhombencephalon can be subdivided in a variable number of transversal swellings called rhombomeres. In the human embryo eight rhombomeres can be distinguished, from caudal to rostral: Rh7-Rh1 and the isthmus (the most rostral rhombomere). A rare disease of the rhombencephalon, "rhombencephalosynapsis" is characterized by a missing vermis resulting in a fused cerebellum. Patients generally present with cerebellar ataxia. The caudal rhombencephalon has been generally considered as the initiation site for neural tube closure. Wikipedia:Rhombencephalon future hindbrain https://orcid.org/0000-0002-6601-2165 EHDAA2:0001630 rhombencephalon presumptive midbrain hindbrain boundary An embryonic midbrain hindbrain boundary that is part of a neurectoderm. EFO:0003446 TAO:0001187 UBERON:0007281 XAO:0004086 ZFA:0001187 presumptive MHB uberon An embryonic midbrain hindbrain boundary that is part of a neurectoderm. OBOL:automatic https://orcid.org/0000-0002-6601-2165 presumptive MHB presumptive segmental plate A presumptive structure that develops_into a presomitic mesoderm. EFO:0003421 TAO:0000053 UBERON:0007282 ZFA:0000053 uberon A presumptive structure that develops_into a presomitic mesoderm. OBOL:automatic presumptive shield EFO:0003444 Presumptive structure fated to become the shield. Defined by fate mapping[ZFIN:curator]. TAO:0001121 UBERON:0007283 ZFA:0001121 uberon Presumptive structure fated to become the shield. Defined by fate mapping[ZFIN:curator]. ZFIN:curator presumptive neural plate A presumptive structure that develops_into a neural plate. EFO:0003424 Region of the gastrula which gives rise to the neural plate.[TAO] TAO:0000063 UBERON:0007284 ZFA:0000063 uberon A presumptive structure that develops_into a neural plate. OBOL:automatic 2012-08-14 Region of the gastrula which gives rise to the neural plate.[TAO] TAO TAO:0000063 ZFIN:curator presumptive paraxial mesoderm A presumptive structure that develops_into a paraxial mesoderm. EFO:0003443 TAO:0000591 UBERON:0007285 XAO:0004134 ZFA:0000591 uberon A presumptive structure that develops_into a paraxial mesoderm. OBOL:automatic presumptive floor plate A presumptive structure that develops_into a floor plate. EFO:0003454 TAO:0001218 UBERON:0007286 ZFA:0001218 uberon A presumptive structure that develops_into a floor plate. OBOL:automatic presumptive forebrain midbrain boundary A presumptive structure that develops_into a forebrain-midbrain boundary. EFO:0003463 TAO:0001368 UBERON:0007288 ZFA:0001368 uberon A presumptive structure that develops_into a forebrain-midbrain boundary. OBOL:automatic presumptive rhombomere 3 A presumptive structure that develops_into a rhombomere 3. EFO:0003451 TAO:0001213 UBERON:0007290 ZFA:0001213 uberon A presumptive structure that develops_into a rhombomere 3. OBOL:automatic presumptive rhombomere 4 A presumptive structure that develops_into a rhombomere 4. EFO:0003450 TAO:0001212 UBERON:0007291 ZFA:0001212 uberon A presumptive structure that develops_into a rhombomere 4. OBOL:automatic presumptive rhombomere 5 A presumptive structure that develops_into a rhombomere 5. EFO:0003449 TAO:0001211 UBERON:0007292 ZFA:0001211 uberon A presumptive structure that develops_into a rhombomere 5. OBOL:automatic presumptive rhombomere 6 A presumptive structure that develops_into a rhombomere 6. EFO:0003448 TAO:0001210 UBERON:0007293 ZFA:0001210 uberon A presumptive structure that develops_into a rhombomere 6. OBOL:automatic presumptive rhombomere 7 A presumptive structure that develops_into a rhombomere 7. EFO:0003447 TAO:0001209 UBERON:0007294 ZFA:0001209 uberon A presumptive structure that develops_into a rhombomere 7. OBOL:automatic presumptive rhombomere 8 A presumptive structure that develops_into a rhombomere 8. EFO:0003452 TAO:0001214 UBERON:0007295 ZFA:0001214 uberon A presumptive structure that develops_into a rhombomere 8. OBOL:automatic presumptive pronephric mesoderm A presumptive structure that develops_into a pronephric mesoderm. EFO:0003619 TAO:0001070 UBERON:0007297 ZFA:0001070 nephron primordium uberon ZFA:0001070 nephron primordium A presumptive structure that develops_into a pronephric mesoderm. OBOL:automatic lateral mesenchyme derived from mesoderm EFO:0003590 EMAPA:16409 TAO:0000905 UBERON:0007683 ZFA:0000905 uberon ZFA anlage AEO:0000170 Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. EFO:0001649 EHDAA2:0003170 FBbt:00005426 UBERON:0007688 Wikipedia:Anlage_(biology) field uberon Anlagen are populations of contiguous cells, typically arranged in one plane, that are morphologically indistinct, but that already correspond in extent to a later organ/tissue. FBbt:00005426 JB:DEF Wikipedia:Anlage_(biology) ascitic fluid The serous fluid which accumulates in the peritoneal cavity in ascites. todo - move to pathological anatomical entity ontology BTO:0000091 GAID:1175 MESH:A12.207.119 UBERON:0007795 ascites ascites fluid uberon adipose tissue of abdominal region Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots. CALOHA:TS-0002 EFO:0003771 UBERON:0007808 abdominal adipose tissue abdominal fat intra-abdominal fat uberon BTO:0004041 intra-abdominal fat Adipose tissue that is located in the abdominal region. This includes any subcutaneous fat, visceral fat or encapsulated adipose tissue depots. CALOHA:paula MGI:csmith UBERON:cjm http://purl.obolibrary.org/obo/uberon/tracker/259 BTO:0004041 abdominal fat BTO:0004041 abdominal adipose tissue post-hyoid pharyngeal arch A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher. AAO:0010362 BTO:0002152 EFO:0003694 Posterior-most stream of cranial neural crest, which sub-divides during migration.[AAO] SCTID:308766004 TAO:0001597 UBERON:0008896 XAO:0000099 ZFA:0001613 branchial arch branchial arches branchial bar branchial bars gill arch gill arches 1-5 gill bar pharyngeal arch 3-7 uberon visceral arches 3-7 ZFA:0001613 branchial arch ZFA:0001613 pharyngeal arch 3-7 ZFA:0001613 branchial bar ZFA:0001613 visceral arches 3-7 ZFA:0001613 gill arch gill bar https://orcid.org/0000-0002-6601-2165 ZFA:0001613 gill arches 1-5 2012-06-20 AAO AAO:0010362 AAO:EJS Posterior-most stream of cranial neural crest, which sub-divides during migration.[AAO] A pharyngeal arch that is posterior to the hyoid arch. i.e. any pharyngeal arch with a number 3 or higher. https://orcid.org/0000-0002-6601-2165 ZFA:0001613 branchial arches ZFA:0001613 branchial bars neuromast AAO:0001004 EFO:0003513 TAO:0000243 Type of mechanoreceptive organ of the lateral line which are arranged in lines on the body surface. These organs are constituted by hair cells and supporting cells and it is located in the epidermis with its hair cells exposed to the surface. Absent in some caecilians. These receptors receive afferent and efferent innervations.[AAO] UBERON:0008904 Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO] ZFA:0000243 cyatocïde@fr lateral line neuromast lateral line organ neuromaste superficiel@fr neuromasts relationship loss: part_of lateral line receptor organ (AAO:0001001)[AAO] relationship loss: subclass lateral line receptor (AAO:0010705)[AAO] uberon 2012-06-20 AAO AAO:0001004 relationship loss: part_of lateral line receptor organ (AAO:0001001)[AAO] 2012-06-20 AAO AAO:0001004 AAO:EJS Type of mechanoreceptive organ of the lateral line which are arranged in lines on the body surface. These organs are constituted by hair cells and supporting cells and it is located in the epidermis with its hair cells exposed to the surface. Absent in some caecilians. These receptors receive afferent and efferent innervations.[AAO] ZFA:0000243 neuromasts 2012-06-20 AAO AAO:0001004 relationship loss: subclass lateral line receptor (AAO:0010705)[AAO] TAO:0000243 neuromaste superficiel@fr ZFA:0000243 lateral line organ Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) ZFIN:ZDB-PUB-961014-576 TAO:0000243 cyatocïde@fr ZFA:0000243 lateral line neuromast 2012-08-14 TAO TAO:0000243 Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.)[TAO] ZFIN:curator somatosensory cortex Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus. BTO:0004353 EFO:0001391 GAID:681 MESH:A08.186.211.730.885.213.670.675 SCTID:279252006 TODO - add layers UBERON:0008930 somesthetic area uberon BTO:0004353 somesthetic area Area of the parietal lobe concerned with receiving general sensations. It lies posterior to the central sulcus. MESH:A08.186.211.730.885.213.670.675 BTO gill filament BTO:0002150 Branched region of the gill where respiratory exchange takes place. Kimmel et al, 1995.[TAO] EFO:0003554 Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure. TAO:0000667 UBERON:0009120 ZFA:0000667 gill filaments uberon Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure. ZFIN:ZDB-PUB-961014-576 http:www.briancoad.com/Dictionary/G.htm ZFA:0000667 gill filaments 2012-08-14 Branched region of the gill where respiratory exchange takes place. Kimmel et al, 1995.[TAO] TAO TAO:0000667 ZFIN:curator adenohypophyseal placode EFO:0000229 Editor notes: consider adding more detailed spatial placement - e.g. oral ectoderm and/or rostal ectoderm. Addtional notes: Fate-mapping studies in amphibian, chick and mouse embryos (Eagleson et al., 1986; 1995; Couly and Le Douarin, 1985; Cobos et al., 2001; Osumi-Yamachita et al., 1994; Kawamura et al., 2002) have shown that the cells contributing to the adenohypophysis develop at the midline of the anterior neural ridge, which delineates the rostral boundary of the neural plate, a region devoid of neural crest. The anterior neural ridge also gives rise to the olfactory placodes and some forebrain tissues including the olfactory bulbs (reviewed in Papalopulu, 1995). Ablation of this region in chick embryos at the 2-4 somite stage confirmed these lineage analyses as it prevented formation of Rathke’s pouch and any further pituitary development (elAmraoui and Dubois, 1993). Upon head folding, the oral ectoderm cells of the adenohypophyseal placode invaginate towards the prospective ventral diencephalon to form Rathke’s pouch, the anlage of the adenohypophysis. Rathke’s pouch starts as an invagination of the oral ectoderm in response to inductive signals from the prospective diencephalon. The region of the diencephalon above the pouch is known as the infundibulum and forms the posterior lobe of the pituitary or neurohypohysis (Figure 3). While in most basal fish and tetrapods the adenohypophyseal anlagen invaginates to form Rathke’s pouch, in teleost fish the adenohypophyseal placode does not invaginate but rather maintains its initial organization forming a solid structure in the head (reviewed in Pogoda and Hammerschmidt; 2009) TAO:0001198 The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary UBERON:0009122 XAO:0004208 ZFA:0001198 pituitary placode uberon ZFA:0001198 pituitary placode ZFA The adenohypophyseal placode forms the anterior lobe of the pituitary gland and gives rise to the endocrine secretory cells of the pituitary http://www.ncbi.nlm.nih.gov/books/NBK53175/ axilla CALOHA:TS-2208 EFO:0001395 FMA:24864 MESH:A01.378.800.090 SCTID:362732006 The axilla is the area on the human body directly under the joint where the arm connects to the shoulder. UBERON:0009472 UMLS:C0004454 Wikipedia:Axilla arm pit armpit armpits axilla axillae axillary axillary region galen:Axilla http://upload.wikimedia.org/wikipedia/commons/f/f2/Gray411.png ncithesaurus:Axilla oxter regio axillaris uberon underarm Wikipedia:Axilla axillae Wikipedia:Axilla underarm Wikipedia:Axilla armpits Wikipedia:Axilla oxter FMA:24864 axillary region The axilla is the area on the human body directly under the joint where the arm connects to the shoulder. Wikipedia:Axilla Wikipedia:Axilla armpit Wikipedia:Axilla axilla Wikipedia:Axilla arm pit FMA:TA regio axillaris Wikipedia:Axilla axillary region spinal cord lateral wall EFO:0003602 EMAPA:17579 TAO:0000996 UBERON:0009582 ZFA:0000996 lateral wall spinal cord uberon EMAPA ZFA:0000996 lateral wall spinal cord presumptive midbrain A presumptive structure that develops_into a midbrain. EFO:0003432 EHDAA2:0000615 TAO:0000148 TODO - unify naming conventions UBERON:0009616 ZFA:0000148 early midbrain future midbrain mesencephalon presumptive mesencephalon uberon future midbrain https://orcid.org/0000-0002-6601-2165 A presumptive structure that develops_into a midbrain. OBOL:automatic early midbrain https://orcid.org/0000-0002-6601-2165 EHDAA2:0000615 mesencephalon ZFA:0000148 presumptive mesencephalon early telencephalic vesicle EFO:0003562 EHDAA2:0001981 EHDAA:1993 EHDAA:2671 EMAPA:16914 UBERON:0009676 early telencephalic ventricle early telencephalic vesicle uberon EHDAA2:0001981 early telencephalic vesicle anterior lateral plate mesoderm ALPM EFO:0003704 TAO:0005041 UBERON:0009881 ZFA:0005041 uberon ALPM ZFA:0005041 posterior lateral plate mesoderm EFO:0003705 PLPM TAO:0005042 UBERON:0009910 ZFA:0005042 uberon PLPM ZFA:0005042 ZFA neurogenic placode Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID] EFO:0003460 Includes: trigeminal, otic, lateral line and epibranchial placodes. Taxon notes: While some sensory placodes (otic and olfactory) may have homologues in basal chordates (Wada et al., 1998), the so-called neurogenenic placodes (trigeminal, otic, lateral line and epibranchial placodes) appear to have emerged at a later time (Shimeld and Holland, 2000)[NBK53171] TAO:0001309 UBERON:0009955 Wikipedia:Neurogenic_placodes ZFA:0001309 neurogenic placodes placodae neurogenicae uberon Wikipedia:Neurogenic_placodes placodae neurogenicae ZFA:0001309 neurogenic placodes Cranial placode with neurogenic potential[cjm]. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia[ZFA]. The neurogenic placodes give rise to parts of various nerves and ganglia, the olfactory organ, parietal eye, parts of the inner ear, and the lateral line. There are 2 major series of neurogenic placodes, the dorsolateral and ventrolateral or epibranchial[PMID] PMID:11523831 Wikipedia:Neurogenic_placodes ZFA:0001309 epithelium of pancreatic duct An epithelium that is part of a pancreatic duct. EFO:0002556 Editor note: in EHDAA2, the embryonic pancreatic ducts (dorsal, ventral) are classified as eithelial sacs, which would render them subclasses this FMA:67681 UBERON:0009970 pancreatic duct epithelium pancreatic ductal epithelium uberon FMA-inferred FMA:67681 pancreatic ductal epithelium FMA:67681 pancreatic duct epithelium An epithelium that is part of a pancreatic duct. OBOL:automatic midbrain basal plate EFO:0003567 EHDAA2:0004375 Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. TAO:0000761 UBERON:0010285 ZFA:0000761 basal plate midbrain uberon Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. ZFA:0000761 TAO:0000761 basal plate midbrain true amnioserosa BTO:0004800 EFO:0000250 Editor's notes: May be obsoleted once added to insect ontology. Coordinate with cell type in CL FBbt:00000095 UBERON:0010302 a single extraembryonic epithelium, which closes the germband dorsally. amnion-serosa uberon a single extraembryonic epithelium, which closes the germband dorsally. doi:10.1073/pnas.0709145105 BTO:0004800 amnion-serosa pectoral fin skeleton EFO:0003594 Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid. TAO:0000943 UBERON:0010710 VSAO:0000153 ZFA:0000943 forefin skeleton uberon Paired fin skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid. TAO:wd TAO:0000943 forefin skeleton pharyngeal arch cartilage A cartilage element that is part of a splanchnocranium. EFO:0003689 TAO:0001460 UBERON:0011004 ZFA:0001460 pharyngeal arch cartilages splanchnocranium cartilage uberon A cartilage element that is part of a splanchnocranium. OBOL:automatic ZFA:0001460 splanchnocranium cartilage ZFA:0001460 pharyngeal arch cartilages palatoquadrate arch EFO:0003659 Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG] TAO:0001272 The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]. UBERON:0011085 VHOG:0000511 ZFA:0001272 dorsal mandibular arch dorsal pharyngeal arch 1 dorsal visceral arch 1 palatoquadrate arch uberon upper jaw upper pharyngeal jaw VHOG:0000511 dorsal visceral arch 1 VHOG:0000511 upper pharyngeal jaw VHOG:0000511 dorsal pharyngeal arch 1 2012-09-17 DOI:10.1046/j.1469-7580.2001.19910133.x Graham A. The development and evolution of the pharyngeal arches. J Anat (2001) Subsequent vertebrate evolution has also involved major alterations to the pharynx; perhaps the most notable occurred with the evolution of the gnathostomes. This involved substantial modifications to the most anterior pharyngeal segments, with the jaw forming from the first, anterior, pharyngeal segment, while the second formed its supporting apparatus, the hyoid.[well established][VHOG] VHOG VHOG:0000511 http://bgee.unil.ch/ VHOG:0000511 palatoquadrate arch ZFA:0001272 upper pharyngeal jaw VHOG:0000511 ZFA:0001272 dorsal visceral arch 1 VHOG:0000511 dorsal mandibular arch VHOG:0000511 upper jaw The dorsal portion of the first pharyngeal arch, comprising the upper jaw[ZFIN,VHOG]. VHOG:0000511 http://purl.obolibrary.org/obo/uberon/tracker/153 silk gland Any of the glands in silk-spinning insects and spiders that secrete a protein liquid that hardens into silk on exposure to air. BTO:0001250 UBERON:0011146 uberon pharyngeal arch derived gill AAO:0010171 Anatomical structure consisting of a series of membranes which allow dissolved oxygen from the water to pass into the bloodstream and carbon dioxide to pass out of the bloodstream.[AAO] BTO:0000518 EFO:0000933 GAID:1218 Gill slits in the pharyngeal region of the intestine, which are also present in (at least) tunicates and acranians, are taken over to the craniote ancestor.[well established][VHOG] MAT:0000134 MIAA:0000134 OpenCyc:Mx4rvVi9dZwpEbGdrcN5Y29ycA TAO:0000354 The respiratory organ of most aquatic animals that breathe water to obtain oxygen, consisting of a filamentous structure of vascular membranes across which dissolved gases are exchanged. [Free_Online_Dictionary] UBERON:0011150 UMLS:C0017558 VHOG:0001214 XAO:0000120 ZFA:0000354 branchia gills ncithesaurus:Gill uberon VHOG:0001214 2012-09-17 The respiratory organ of most aquatic animals that breathe water to obtain oxygen, consisting of a filamentous structure of vascular membranes across which dissolved gases are exchanged. [Free_Online_Dictionary] VHOG VHOG:0001214 http://bgee.unil.ch/ http://www.thefreedictionary.com/gill 2012-06-20 AAO AAO:0010171 AAO:BJB Anatomical structure consisting of a series of membranes which allow dissolved oxygen from the water to pass into the bloodstream and carbon dioxide to pass out of the bloodstream.[AAO] BTO:0000518 branchia VHOG:0001214 gills 2012-09-17 Gill slits in the pharyngeal region of the intestine, which are also present in (at least) tunicates and acranians, are taken over to the craniote ancestor.[well established][VHOG] ISBN:978-0198566694 Schmidt-Rhaesa A, The evolution of organ systems (2007) p.209 VHOG VHOG:0001214 http://bgee.unil.ch/ ethmoid cartilage AAO:0010134 Anterior wall of the braincase.[AAO] Chondrocranium cartilage that is initially plate-like and formed from the anterior fusion of the trabecula crani. The ethmoid cartilage is paired.[TAO] EFO:0003685 Region between capsules formed by anterior tips of neurocranial trabeculae. TAO:0001405 UBERON:0011242 We assume the AAO structure is cartilage ZFA:0001405 ethmoid cartilages ethmoid plate uberon TAO:0001405 ethmoid plate 2012-08-14 Chondrocranium cartilage that is initially plate-like and formed from the anterior fusion of the trabecula crani. The ethmoid cartilage is paired.[TAO] TAO TAO:0001405 ZFIN:curator ISBN10:0073040584 Region between capsules formed by anterior tips of neurocranial trabeculae. Kardong TAO TAO:0001405 ethmoid cartilages 2012-06-20 AAO AAO:0010134 AAO:EJS Anterior wall of the braincase.[AAO] hyomandibular cartilage Cartilage form of the hyomandibular element. EFO:0003686 Pharyngeal arch cartilage that is bilaterally paired and articulates with the chondrocranium dorsally, the opercle bone posteriorly, and the palatoquadrate cartilage anteriorly.[TAO] TAO:0001422 Taxon notes: The stapes is homologous to the hyomandibula. In this ontology, we use the class 'hyomandibular cartilage' generally to include the future stapes, the future hyomandibular bone of teleosts and the unossified cartilage in sharks. This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG] UBERON:0011607 VHOG:0000688 ZFA:0001422 hyosymplectic cartilage symplectic cartilage uberon Cartilage form of the hyomandibular element. https://orcid.org/0000-0002-6601-2165 2012-09-17 DOI:10.1017/S0022215100009087 Gerrie J, The phylogeny of the mammalian tympanic cavity and auditory ossicles. The Journal of Laryngology and Otology (1948) This structure (the hyomandibular), on ontogenic grounds alone, can be considered homologous with the amphibian and reptilian columella and the mammalian stapes.[well established][VHOG] VHOG VHOG:0000688 http://bgee.unil.ch/ TAO 2012-08-14 Pharyngeal arch cartilage that is bilaterally paired and articulates with the chondrocranium dorsally, the opercle bone posteriorly, and the palatoquadrate cartilage anteriorly.[TAO] TAO TAO:0001422 ZFIN:curator VHOG:0000688 ZFA:0001422 hyosymplectic cartilage TAO:0001422 symplectic cartilage adductor mandibulae An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment. EFO:0000227 In teleosts, the complex is composed of several derived muscles that attach to different parts of the highly kinetic skull. Is a mandibular muscle that forms along the palatoquadrates and inserts on Meckel's cartilages and functions in jaw closing[ZFA:0007049]. TAO:0007049 The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG] UBERON:0011683 ZFA:0007049 adductor mandibulae complex dorsal adductor mandibulae levator mandibulae m. adductor mandibulae uberon ZFA:0007049 dorsal adductor mandibulae Is a mandibular muscle that forms along the palatoquadrates and inserts on Meckel's cartilages and functions in jaw closing[ZFA:0007049]. ZFA:0007049 An adductor muscle that acts on the jaw. In some species, this is subdivided into segments based on attachment. UBERON:cjm EFO:0000227 adductor mandibulae complex 2012-09-17 ISBN:978-0030223693 Liem KF, Bemis WE, Walker WF, Grande L, Functional Anatomy of the Vertebrates: An Evolutionary Perspective (2001) p.333-334 and same reference Table 10-4 The division of the adductor mandibulae in the various lines of tetrapod evolution correlates with divergences in their methods of feeding. (...) As the jaws become stronger and their movements more complex in the line of evolution toward mammals, the adductor complex becomes divided into several distinct muscles (temporalis, masseter, pterygoideus, tensor tympani, tensor veli palati).[well established][VHOG] VHOG VHOG:0000698 http://bgee.unil.ch/ In teleosts, the complex is composed of several derived muscles that attach to different parts of the highly kinetic skull. Kardong NCBITaxon:32443 plantaris EFO:0001979 Editor notes: todo - coordinate with phenoscape-ext on representation of amphibian plantaris longus and profundus FMA:22543 Plantaris is a vestigial structure and one of the superficial muscles of the posterior crural compartment of the leg. It is innervated by the tibial nerve (S1, S2) . It is composed of a thin muscle belly and a long thin tendon. It is approximately 2-4 inches long, and is absent in 7 - 10% of the human population. It is one of the plantar flexors in the superior compartment of the leg along with the gastrocnemius, and soleus. The plantaris is considered an unimportant muscle, it mainly acts with gastrocnemius[WP]. UBERON:0011905 Wikipedia:Plantaris_muscle musculus plantaris plantaris uberon Plantaris is a vestigial structure and one of the superficial muscles of the posterior crural compartment of the leg. It is innervated by the tibial nerve (S1, S2) . It is composed of a thin muscle belly and a long thin tendon. It is approximately 2-4 inches long, and is absent in 7 - 10% of the human population. It is one of the plantar flexors in the superior compartment of the leg along with the gastrocnemius, and soleus. The plantaris is considered an unimportant muscle, it mainly acts with gastrocnemius[WP]. Wikipedia:Plantaris_muscle FMA:22543 plantaris musculus plantaris umbilical cord blood BTO:0004053 CALOHA:TS-1079 Cord blood is collected because it contains stem cells, which can be used to treat hematopoietic and genetic disorders.[WP] EFO:0001942 MESH:A12.207.152.200 UBERON:0012168 Wikipedia:Cord_blood blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]. cord blood fetal blood uberon umbilical cord blood MESH:A12.207.152.200 fetal blood Wikipedia:Cord_blood blood that remains in the placenta and in the attached umbilical cord after childbirth[WP]. BTO:0004053 cord blood MESH:A12.207.152.200 umbilical cord blood core of nucleus accumbens EFO:0002458 FMA:77383 NIF_GrossAnatomy:nlx_anat_20090306 UBERON:0012170 core of nucleus accumbens core region of nucleus accumbens nucleus accumbens core uberon NIF_GrossAnatomy FMA:77383 core region of nucleus accumbens NIF_GrossAnatomy:nlx_anat_20090306 nucleus accumbens core NIF_GrossAnatomy:nlx_anat_20090306 core of nucleus accumbens shell of nucleus accumbens Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell. EFO:0002459 FMA:77387 NIF_GrossAnatomy:nlx_anat_20090307 UBERON:0012171 nucleus accumbens shell shell of nucleus accumbens shell region of nucleus accumbens uberon Crescent shaped outer zone of the nucleus accumbens, defined by a combination of chemoarchitecture and afferent and efferent connections. The shell is distinguished from the more centrally located core through the notable reduction in staining for the calcium-binding protein calbindin D28K, which is dense in the core and virtually absent in the shell. NIF_GrossAnatomy:nlx_anat_20090307 NIF_GrossAnatomy:nlx_anat_20090307 nucleus accumbens shell FMA:77387 shell region of nucleus accumbens NIF_GrossAnatomy NIF_GrossAnatomy:nlx_anat_20090307 shell of nucleus accumbens body proper Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the vertebral column and ribcage. Examples: There is only one body proper[FMA:231424]. The region of the organism associated with the visceral organs. AEO:0000103 FMA:231424 UBERON:0013702 body uberon dorsal fin musculature EFO:0003551 Musculature that is part of the dorsal fin. TAO:0000648 UBERON:2000648 ZFA:0000648 teleost_anatomy_curators uberon uberon/phenoscape-anatomy Musculature that is part of the dorsal fin. ZFA:0000648 ZFA:curator segmental intercostal artery EFO:0003558 TAO:0000677 UBERON:2000677 ZFA:0000677 segmental intercostal arteries uberon TAO:0000677 segmental intercostal arteries nucleus of medial longitudinal fasciculus of medulla EFO:0003577 TAO:0000815 UBERON:2000815 ZFA:0000815 nucleus of MLF medulla nucleus of the medial longitudinal fasciculus medulla oblongata uberon UBERON:cjm nucleus of MLF medulla ZFA ZFA:0000815 nucleus of the medial longitudinal fasciculus medulla oblongata middle lateral line neuromast EFO:0003592 Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.) TAO:0000939 UBERON:2000939 ZFA:0000939 neuromast middle neuromasts middle uberon TAO:0000939 neuromast middle Neuromast that is part of the middle lateral line. Kimmel et al, 1995. (Also see Anatomical Atlas entry for lateral line by T. Whitfield.) ZFIN:curator TAO:0000939 neuromasts middle occipital lateral line neuromast A neuromast that is part of the occipital lateral line. EFO:0003606 TAO:0001025 UBERON:2001025 ZFA:0001025 neuromast occipital neuromasts occipital uberon A neuromast that is part of the occipital lateral line. ZFIN:curator TAO:0001025 neuromast occipital TAO:0001025 neuromasts occipital supraorbital lateral line neuromast A neuromast that is part of the supraorbital lateral line. EFO:0003607 TAO:0001026 UBERON:2001026 ZFA:0001026 neuromast supraorbital neuromasts supraorbital uberon TAO:0001026 neuromasts supraorbital TAO:0001026 neuromast supraorbital A neuromast that is part of the supraorbital lateral line. ZFIN:curator primitive mesencephalic artery Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundar[ZFIN:curator]y EFO:0003615 PMsA TAO:0001062 UBERON:2001062 ZFA:0001062 precursor to mesencephalic artery uberon UBERON:cjm precursor to mesencephalic artery Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundar[ZFIN:curator]y ZFIN:curator PMsA TAO:0001062 dorsal anterior lateral line ganglion EFO:0003674 TAO:0001312 UBERON:2001312 ZFA:0001312 anterodorsal lateral line ganglion uberon/phenoscape-anatomy TAO:0001312 anterodorsal lateral line ganglion unit A unit of measurement is a standardized quantity of a physical quality. James Malone Jie Zheng MO_3 NIFSTD:birnlex_2015 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001446 length unit A base unit which is a standard measure of the distance between two points. A length unit is a base unit which is a standard measure of the distance between two points. A unit which is a standard measure of the distance between two points. DistanceUnit James Malone Jon Ison UO_0000001 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#DistanceUnit http://www.ebi.ac.uk/efo/EFO_0001678 mass unit A base unit which is a standard measure of the amount of matter/energy of a physical object. A mass unit is a base unit which is a standard measure of the amount of matter/energy of a physical object. A unit which is a standard measure of the amount of matter/energy of a physical object. James Malone Jie Zheng MO_11 MO_149 MassUnit MassUnitOther MassUnitOther[accessedResource: MO_11][accessDate: 05-04-2011] MassUnit[accessedResource: MO_149][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001679 time unit A base unit which is a standard measure of the dimension in which events occur in sequence. A time unit is a base unit which is a standard measure of the dimension in which events occur in sequence. A unit which is a standard measure of the dimension in which events occur in sequence. James Malone Jie Zheng MO_103 MO_166 TimeUnit TimeUnitOther TimeUnitOther[accessedResource: MO_103][accessDate: 05-04-2011] TimeUnit[accessedResource: MO_166][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001680 electric current unit A base unit which is a standard measure of the flow of electric charge. A unit which is a standard measure of the flow of electric charge. An electric current unit is a base unit which is a standard measure of the flow of electric charge. James Malone UO_0000004 http://www.ebi.ac.uk/efo/EFO_0001681 temperature unit A base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter. A temperature unit is a base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter. A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter. James Malone Jie Zheng MO_48 TemperatureUnit TemperatureUnit[accessedResource: MO_48][accessDate: 05-04-2011] Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001682 substance unit A base unit which is a standardized quantity of an element or compound with uniform composition. A substance unit is a base unit which is a standardised quantity of an element or compound with uniform composition. A unit which is a standardised quantity of an element or compound with uniform composition. James Malone UO_0000006 http://www.ebi.ac.uk/efo/EFO_0001683 luminous intensity unit A base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction. A luminous intensity unit is a base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction. A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction. James Malone UO_0000007 http://www.ebi.ac.uk/efo/EFO_0001684 meter A length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second. A meter is a length unit which is equal to the length of the path traveled by light in vacuum during a time interval of 1/299 792 458 of a second. James Malone Jie Zheng Jon Ison MO_367 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#m http://www.ebi.ac.uk/efo/EFO_0001685 m m[accessedResource: MO_367][accessDate: 05-04-2011] metre kilogram A kilogram is a mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France. A mass unit which is equal to the mass of the International Prototype Kilogram kept by the BIPM at Svres, France. James Malone Jie Zheng Jon Ison MO_846 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#kg http://www.ebi.ac.uk/efo/EFO_0001686 kg kg[accessedResource: MO_846][accessDate: 05-04-2011] second A second is a time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom. A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom. James Malone UO_0000010 http://www.ebi.ac.uk/efo/EFO_0001687 s ampere A An ampere is an electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length. An electric current unit which is equal to the constant current which, if maintained in two straight parallel conductors of infinite length, of negligible circular cross-section, and placed 1 m apart in vacuum, would produce between these conductors a force equal to 2 x 10^[-7] newton per meter of length. James Malone UO_0000011 http://www.ebi.ac.uk/efo/EFO_0001688 kelvin A kelvin is a thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water. A thermodynamic temperature unit which is equal to the fraction 1/273.16 of the thermodynamic temperature of the triple point of water. James Malone Jie Zheng K K[accessedResource: MO_614][accessDate: 05-04-2011] MO_614 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#K http://www.ebi.ac.uk/efo/EFO_0001689 mole A mole is a substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12. A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12. James Malone Jie Zheng Jon Ison MO_998 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#mol http://www.ebi.ac.uk/efo/EFO_0001690 mol mol[accessedResource: MO_998][accessDate: 05-04-2011] candela A candela is a luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian. A luminous intensity unit which equal to the luminous intensity, in a given direction, of a source that emits monochromatic radiation of frequency 540 x 1012 hertz and that has a radiant intensity in that direction of 1/683 watt per steradian. James Malone Jie Zheng Jon Ison MO_572 Tomasz Adamusiak cd http://mged.sourceforge.net/ontologies/MGEDOntology.owl#candela http://www.ebi.ac.uk/efo/EFO_0001691 centimeter A centimeter is a length unit which is equal to one hundredth of a meter or 10^-2 m. A length unit which is equal to one hundredth of a meter or 10^[-2] m. James Malone Jie Zheng Jon Ison MO_837 Tomasz Adamusiak centimetre cm cm[accessedResource: MO_837][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cm http://www.ebi.ac.uk/efo/EFO_0001720 millimeter A length unit which is equal to one thousandth of a meter or 10^[-3] m. A millimeter is a length unit which is equal to one thousandth of a meter or 10^-3 m. Jon Ison MO_648 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#DistanceUnit http://www.ebi.ac.uk/efo/EFO_0004361 millimetre mm micrometer A length unit which is equal to one millionth of a meter or 10^[-6] m. A micrometer is a length unit which is equal to 1m x 10^-6. James Malone Jie Zheng Jon Ison MO_421 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#um http://www.ebi.ac.uk/efo/EFO_0001724 micrometre micron um um[accessedResource: MO_421][accessDate: 05-04-2011] µm nanometer A length unit which is equal to one thousandth of one millionth of a meter or 10^[-9] m. A nanometer is a length unit which is equal to 1m x 10^-9. James Malone UO_0000018 http://www.ebi.ac.uk/efo/EFO_0001723 nanometre nm picometer A length unit which is equal to 10^[-12] m. A picometer is a length unit which is equal to 1m x 10^-12. James Malone UO_0000020 http://www.ebi.ac.uk/efo/EFO_0001722 picometre pm gram A gram is a mass unit which is equal to one-thousanth of a kilogram. A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg. James Malone Jie Zheng Jon Ison MO_825 Tomasz Adamusiak g g[accessedResource: MO_825][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#g http://www.ebi.ac.uk/efo/EFO_0001705 milligram A mass unit which is equal to one thousandth of a gram or 10^[-3] g. A milligram is a mass unit which is equal to one-millionth of a kilogram. James Malone Jie Zheng Jon Ison MO_949 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#mg http://www.ebi.ac.uk/efo/EFO_0001706 mg mg[accessedResource: MO_949][accessDate: 05-04-2011] microgram A mass unit which is equal to one millionth of a gram or 10^[-6] g. A microgram is a mass unit which is equal to 1 gram x 10^-6 James Malone Jie Zheng Jon Ison MO_438 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#ug http://www.ebi.ac.uk/efo/EFO_0001707 ug ug[accessedResource: MO_438][accessDate: 05-04-2011] µg nanogram A mass unit which is equal to one thousandth of one millionth of a gram or 10^[-9] g. A microgram is a mass unit which is equal to 1 gram x 10^-9 James Malone Jie Zheng Jon Ison MO_796 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#ng http://www.ebi.ac.uk/efo/EFO_0001708 ng ng[accessedResource: MO_796][accessDate: 05-04-2011] picogram A mass unit which is equal to one millionth of one millionth of a gram. A picogram is a mass unit which is equal to 1 gram x 10^-12 Jon Ison MO_363 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#pg http://www.ebi.ac.uk/efo/EFO_0004360 pg femtogram A mass unit which is equal to 10^[-15] g. A microgram is a mass unit which is equal to 1 gram x 10^-15 James Malone UO_0000026 fg http://www.ebi.ac.uk/efo/EFO_0001709 degree celsius A temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K. A temperature unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K. C Degree celsius is a temperature derived unit which is equal to one Kelvin degree. However, they have their zeros at different points. The Centigrade scale has its zero at 273.15 K. James Malone Jie Zheng MO_980 Tomasz Adamusiak degree centigrade degrees_C degrees_C[accessedResource: MO_980][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#degrees_C http://www.ebi.ac.uk/efo/EFO_0001700 microsecond A microsecond is a time unit which is equal to one millionth of a second or 10^-6 s. A time unit which is equal to one millionth of a second or 10^[-6] s. James Malone Jie Zheng Jon Ison MO_795 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#us http://www.ebi.ac.uk/efo/EFO_0001792 us us[accessedResource: MO_795][accessDate: 05-04-2011] µs minute A minute is a derived time unit which is equal to 60 seconds. A time unit which is equal to 60 seconds. James Malone UO_0000031 http://www.ebi.ac.uk/efo/EFO_0001791 min hour A time unit which is equal to 3600 seconds or 60 minutes. An hour is a derived time unit which is equal to 3600 seconds or 60 minutes. James Malone UO_0000032 h http://www.ebi.ac.uk/efo/EFO_0001790 day A day is a derived time unit which is equal to 24 hours. A time unit which is equal to 24 hours. James Malone UO_0000033 http://www.ebi.ac.uk/efo/EFO_0001789 week A time unit which is equal to 7 days. A week is a derived time unit which is equal to 7 days. James Malone UO_0000034 http://www.ebi.ac.uk/efo/EFO_0001788 month A month is a derived time unit which is approximately equal to the length of time of one of cycle of the moon's phases which is science is taken to be equal to 30 days. A time unit which is approximately equal to the length of time of one of cycle of the moon's phases which is science is taken to be equal to 30 days. James Malone UO_0000035 http://www.ebi.ac.uk/efo/EFO_0001726 year A time unit which is equal to 12 months which is science is taken to be equal to 365.25 days. A year is a derived time unit which is equal to 365.25 days. James Malone UO_0000036 http://www.ebi.ac.uk/efo/EFO_0001725 micromole A substance unit equal to a millionth of a mol or 10^[-6] mol. James Malone Jie Zheng Jon Ison MO_752 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#umol http://www.ebi.ac.uk/efo/EFO_0001801 umol umol[accessedResource: MO_752][accessDate: 05-04-2011] µmol millimole A millimole is a substance unit equal to a thousandth of a mol or 10^[-3] mol. A substance unit equal to a thousandth of a mol or 10^[-3] mol. James Malone UO_0000040 http://www.ebi.ac.uk/efo/EFO_0001802 mmol nanomole A nanomole is a substance unit equal to one thousandth of one millionth of a mole or 10^-9 mol. A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol. James Malone Jie Zheng Jon Ison MO_743 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#nmol http://www.ebi.ac.uk/efo/EFO_0001800 nmol nmol[accessedResource: MO_743][accessDate: 05-04-2011] picomole A picomole is a substance unit equal to 10^-12 mol. A substance unit equal to 10^[-12] mol. James Malone Jie Zheng Jon Ison MO_688 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#pmol http://www.ebi.ac.uk/efo/EFO_0001798 pmol pmol[accessedResource: MO_688][accessDate: 05-04-2011] femtomole A femtomole is a substance unit equal to 10^-15 mol. A substance unit equal to 10^[-15] mol. James Malone Jie Zheng Jon Ison MO_689 Tomasz Adamusiak fmol fmol[accessedResource: MO_689][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#fmol http://www.ebi.ac.uk/efo/EFO_0001797 attomole A substance unit equal to 10^[-18] mol. An attomole is a substance unit equal to 10^-18 mol. James Malone Jie Zheng MO_977 Tomasz Adamusiak amol amol[accessedResource: MO_977][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#amol http://www.ebi.ac.uk/efo/EFO_0001793 base unit A base unit is a unit which is used to measure a paticular type which is independent from all other base units and from which all measures of that type can be derived, for example, a length base unit of the meter. This is akin to the SI base unit system. A unit which is one of a particular measure to which all measures of that type can be related. James Malone UO_0000045 http://www.ebi.ac.uk/efo/EFO_0001677 derived unit A derived unit is a unit which is derived from base units. A unit which is derived from base units. James Malone UO_0000046 http://www.ebi.ac.uk/efo/EFO_0001692 area unit A derived unit which is a standard measure of the amount of a 2-dimensional flat surface. A unit which is a standard measure of the amount of a 2-dimensional flat surface. An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface. James Malone UO_0000047 http://www.ebi.ac.uk/efo/EFO_0001693 concentration unit A concentration unit is a dervied unit which represents a standard measurement of how much of a given substance there is mixed with another substance. A derived unit which represents a standard measurement of how much of a given substance there is mixed with another substance. A unit which represents a standard measurement of how much of a given substance there is mixed with another substance. ConcentrationUnit ConcentrationUnitOther ConcentrationUnitOther[accessedResource: MO_86][accessDate: 05-04-2011] ConcentrationUnit[accessedResource: MO_61][accessDate: 05-04-2011] James Malone Jie Zheng MO_61 MO_86 Tomasz Adamusiak http://www.ebi.ac.uk/efo/EFO_0001803 molar mass unit A derived unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules. A unit which is a standard measure of the mass of a homogeneous substance containing 6.02 x 1023 atoms or molecules. unit of molarity A concentration unit which is a standard measure of the number of moles of a given substance per liter of solution. A derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution. A unit of molarity is a derived concentration unit which is a standard measure of the number of moles of a given substance per liter of solution. James Malone UO_0000061 http://www.ebi.ac.uk/efo/EFO_0001804 molar A molar is a unit of molarity which expresses a concentration of 1 mole of solute per liter of solution (mol/L). A unit of concentration which expresses a concentration of 1 mole of solute per liter of solution (mol/L). James Malone Jie Zheng M MO_936 M[accessedResource: MO_936][accessDate: 05-04-2011] Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#M http://www.ebi.ac.uk/efo/EFO_0001805 millimolar A millimolar is a unit of molarity which is equal to one thousandth of a molar or 10^-3 M. A unit of molarity which is equal to one thousandth of a molar or 10^[-3] M. James Malone Jie Zheng MO_509 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#mM http://www.ebi.ac.uk/efo/EFO_0001806 mM mM[accessedResource: MO_509][accessDate: 05-04-2011] micromolar A unit of molarity which is equal to one millionth of a molar or 10^[-6] M. James Malone Jie Zheng MO_740 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#uM http://www.ebi.ac.uk/efo/EFO_0001811 uM uM[accessedResource: MO_740][accessDate: 05-04-2011] µM nanomolar A unit of molarity which is equal to one thousandth of one millionth of a molar or 10^[-9] M. James Malone Jie Zheng MO_862 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#nm http://www.ebi.ac.uk/efo/EFO_0001812 nm nm[accessedResource: MO_862][accessDate: 05-04-2011] picomolar A unit of molarity which is equal to 10^[-12] M. James Malone Jie Zheng MO_628 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#pM http://www.ebi.ac.uk/efo/EFO_0001813 pM pM[accessedResource: MO_628][accessDate: 05-04-2011] femtomolar A unit of molarity which is equal to 10^[-15] M. James Malone Jie Zheng MO_898 Tomasz Adamusiak fM fM[accessedResource: MO_898][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#fM http://www.ebi.ac.uk/efo/EFO_0001814 square meter A square meter is an area unit which is equal to an area enclosed by a square with sides each 1 meter long. An area unit which is equal to an area enclosed by a square with sides each 1 meter long. James Malone UO_0000080 http://www.ebi.ac.uk/efo/EFO_0001694 m^[2] square metre volume unit A derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas. A unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas. A volume unit is a derived unit which is a standard measure of the amount of space occupied by any substance, whether solid, liquid, or gas. James Malone Jie Zheng MO_155 MO_179 Tomasz Adamusiak VolumeUnit VolumeUnitOther VolumeUnitOther[accessedResource: MO_155][accessDate: 05-04-2011] VolumeUnit[accessedResource: MO_179][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0001711 cubic centimeter A cubic centimeter is a volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml. A volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml. James Malone Jie Zheng Jon Ison MO_834 Tomasz Adamusiak cc cc[accessedResource: MO_834][accessDate: 05-04-2011] cm^3 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cc http://www.ebi.ac.uk/efo/EFO_0001714 milliliter A milliliter is a volume unit which is equal to one thousandth of a liter or 10^-3 L, or to 1 cubic centimeter. A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter. James Malone Jie Zheng Jon Ison MO_488 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#ml http://www.ebi.ac.uk/efo/EFO_0001712 ml ml[accessedResource: MO_488][accessDate: 05-04-2011] liter A liter is a volume unit which is equal to one thousandth of a cubic meter or 10^-3 m^3, or to 1 decimeter. A volume unit which is equal to one thousandth of a cubic meter or 10^[-3] m^[3], or to 1 decimeter. James Malone Jie Zheng Jon Ison L[accessedResource: MO_444][accessDate: 05-04-2011] MO_444 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#L http://www.ebi.ac.uk/efo/EFO_0001713 l microliter A microliter is a volume unit which is equal to one millionth of a liter or 10^-6 L. A volume unit which is equal to one millionth of a liter or 10^[-6] L. James Malone Jie Zheng Jon Ison MO_926 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#ul http://www.ebi.ac.uk/efo/EFO_0001717 ul ul[accessedResource: MO_926][accessDate: 05-04-2011] µl nanoliter A nanoliter is a volume unit which is equal to one thousandth of one millionth of a liter or 10^-9 L. A volume unit which is equal to one thousandth of one millionth of a liter or 10^[-9] L. James Malone Jie Zheng Jon Ison MO_754 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#nl http://www.ebi.ac.uk/efo/EFO_0001704 nl nl[accessedResource: MO_754][accessDate: 05-04-2011] picoliter A picoliter is a volume unit which is equal to 10^-12 L. A volume unit which is equal to 10^[-12] L. James Malone Jie Zheng Jon Ison MO_905 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#pl http://www.ebi.ac.uk/efo/EFO_0001718 pl pl[accessedResource: MO_905][accessDate: 05-04-2011] true femtoliter A femtoliter is a volume unit which is equal to 10^-15 L. A volume unit which is equal to 10^[-12] L. James Malone Jie Zheng Jon Ison MO_721 Tomasz Adamusiak fl fl[accessedResource: MO_721][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#fl http://www.ebi.ac.uk/efo/EFO_0001719 pressure unit A unit which is a standard measure of the force applied to a given area. illuminance unit george gkoutos A unit which is a standard measure of the luminous flux incident on a unit area. lux An illuminance unit which is equal to the illuminance produced by 1 lumen evenly spread over an area 1 meter squared. george gkoutos angle unit George Gkoutos A unit which is a standard measure of the figure or space formed by the junction of two lines or planes. derived temperature unit A derived unit which represents a standard measurement of temperature in a particular temperature scale. A dervied temperature unit is a derived unit which represents a standard measurement of temperature in a particular temperature scale. A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter. James Malone UO_0000126 http://www.ebi.ac.uk/efo/EFO_0001699 temperature derived unit radiation unit A derived unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source. A unit which is a standard measure of the amount of radiation emitted by a given radiation source as well as the amount of radiation absorbed or deposited in a specific material by a radiation source. absorbed dose unit A derived unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue. A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue. Gray An absorbed dose unit which is equal to the absorption of one joule of radiation energy by one kilogram of matter. Gy rad george gkoutos An absorbed dose unit which is equal to 0.01 gray (Gy). derived time unit A derived unit which is a standard measure of the dimension in which events occur in sequence. A dervied time unit is a derived unit which is a standard measure of the dimension in which events occur in sequence. A unit which is a standard measure of the dimension in which events occur in sequence. James Malone UO_0000149 http://www.ebi.ac.uk/efo/EFO_0001727 time derived unit microeinstein per square meter per second Jon Ison http://www.ebi.ac.uk/efo/EFO_0004377 microeinstein per second and square meter mass percent A dimensionless concentration unit which denotes the mass of a substance in a mixture as a percentage of the mass of the entire mixture. mass percentage w/w weight-weight percentage volume percent % (v/v) A dimensionless concentration unit which denotes the volume of the solute in mL per 100 mL of the resulting solution. volume percentage part per million 10^[-6] A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000 regardless of the units of measure used as long as they are the same or 1 part in 10^[6]. ppm part per billion 10^[-9] A dimensionless concentration notation which denotes the amount of a given substance in a total amount of 1,000,000,000 regardless of the units of measure as long as they are the same or 1 part in 10^[9]. ppb gram per liter A gram per liter is a density unit which is equal to mass of an object in grams divided by the volume in liters. A mass unit density which is equal to mass of an object in grams divided by the volume in liters. James Malone Jon Ison UO_0000175 g/L http://www.ebi.ac.uk/efo/EFO_0001810 http://www.ebi.ac.uk/efo/EFO_0004372 milligram per milliliter A mass unit density which is equal to mass of an object in milligrams divided by the volume in milliliters. A milligram per milliliter is a density unit which is equal to mass of an object in milligrams divided by the volume in milliliters. James Malone UO_0000176 http://www.ebi.ac.uk/efo/EFO_0001809 mg/ml unit per milliliter Jon Ison U/ml http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Unit_per_Milliliter http://www.ebi.ac.uk/efo/EFO_0002932 density unit A density unit is a derived unit which is a standard measure of the influence exerted by some mass. A derived unit which is a standard measure of the influence exerted by some mass. A unit which is a standard measure of the influence exerted by some mass. James Malone UO_0000182 http://www.ebi.ac.uk/efo/EFO_0001808 degree Helen Parkinson arc degree degree (angle) A decimal degree (in full, a degree of arc, arc degree, or arcdegree), usually denoted by ° (the degree symbol), is a measurement of planeangle is a plane angle unit which is equal to 1/360 of a full rotation or 1.7453310^[-2] rad. George Gkoutos dimensionless unit A derived unit which is a standard measure of physical quantity consisting of only a numerical number without any units. A unit which is a standard measure of physical quantity consisting of only a numerical number without any units. percent % A dimensionless ratio unit which denotes numbers as fractions of 100. fraction Definition: A dimensionless ratio unit which relates the part (the numerator) to the whole (the denominator). [Wikipedia] degree fahrenheit A temperature derived unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius. A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius. F James Malone Jie Zheng MO_812 Tomasz Adamusiak degrees_F degrees_F[accessedResource: MO_812][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#degrees_F http://www.ebi.ac.uk/efo/EFO_0001701 milliliter per kilogram Jon Ison http://www.ebi.ac.uk/efo/EFO_0004380 ml/kg cell concentration unit george gkoutos A concentration unit which denotes the average cell number in a given volume. cells per milliliter george gkoutos cells per millilitre A unit of cell concentration which is equal to one cell in a volume of 1 milliliter. cells per ml milliliter per liter A milliliter per liter is a unit of concentrationdefined as a volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution. A volume per unit volume unit which is equal to one millionth of a liter of solute in one liter of solution. James Malone UO_0000207 http://www.ebi.ac.uk/efo/EFO_0001807 ml/l deciliter A deciliter is a volume unit which is equal to one tenth of a liter or 10^-1 L. A volume unit which is equal to one tenth of a liter or 10^[-1] L. James Malone Jie Zheng Jon Ison MO_624 Tomasz Adamusiak dl dl[accessedResource: MO_624][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#dl http://www.ebi.ac.uk/efo/EFO_0001716 dalton A dalton is a mass unit is an independent unit to the base SI units and is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state. An independently to the base SI units defined mass unit which is equal to one twelfth of the mass of an unbound atom of the carbon-12 nuclide, at rest and in its ground state. Da James Malone UO_0000221 http://www.ebi.ac.uk/efo/EFO_0001710 u unified atomic mass unit milligram per liter http://www.ebi.ac.uk/efo/EFO_0004375 mg/L microgram per milliliter Jon Ison http://www.ebi.ac.uk/efo/EFO_0002905 ug/ml nanogram per milliliter James Malone http://www.ebi.ac.uk/efo/EFO_0002903 ng/ml microgram per liter A mass unit density which is equal to mass of an object in micrograms divided by the volume in liters. george gkoutos microgram per litre ug/L cob The central axis/core of the 'ear' (distal end of the lateral branch/ear shoot) upon which the kernels (caryopses) are borne. The cob is similar to the central spike of the tassel (male inflorescence) in that it produces multiple rows of paired spikelets (polystichous phyllotaxy). rachis morphology A property of a single physical entity describing the entity's size or shape or structure. Modified from PATO original by James Malone histology mass A physical quality of the amount of matter in a material. James Malone modified from PATO viability alive pre-mortem living dead Cardiac Death Cardiac Death[accessedResource: MSH:D003643][accessDate: 05-04-2011] Death Death, Cardiac[accessedResource: MSH:D003643][accessDate: 05-04-2011] Death[accessedResource: MSH:D003643][accessDate: 05-04-2011] Determination of Death[accessedResource: MSH:D003643][accessDate: 05-04-2011] Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions. Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions.[accessedResource: MSH:D003643][accessDate: 05-04-2011] MSH:D003643 Near-Death Experience[accessedResource: MSH:D003643][accessDate: 05-04-2011] Tomasz Adamusiak post-mortem deceased experimental factor An experimental factor in Array Express which are essentially the variable aspects of an experiment design which can be used to describe an experiment, or set of experiments, in an increasingly detailed manner. This upper level class is really used to give a root class from which applications can rely on and not be tied to upper ontology classses which do change. Concept naming convention is lower case natural naming with spaces, when necessary captials should be used, for example disease factor, HIV, breast carcinoma, Ewing's sarcoma ExperimentalFactor ExperimentalFactor[accessedResource: MO_10][accessDate: 05-04-2011] Helen Parkinson Helen Parkinson James Malone James Malone Jie Zheng MO_10 Tomasz Adamusiak Tomasz Adamusiak true CS57511 CS57511 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932. James Malone http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311932 CS57512 CS57512 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933 James Malone http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311933 CS57515 CS57515 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936 James Malone http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311936 CS57520 CS57520 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941 James Malone http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311941 CS57521 CS57521 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522 James Malone http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=1005152522 CS57537 CS57537 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958 James Malone http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311958 CS57541 CS57541 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158565&type=germplasm CS57543 CS57543 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158567&type=germplasm CS57544 CS57544 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158568&type=germplasm true CS57548 CS57548 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158572&type=germplasm CS57549 CS57549 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158573&type=germplasm CS57551 CS57551 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158575&type=germplasm CS57556 CS57556 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158580&type=germplasm CS57560 CS57560 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158584&type=germplasm CS57563 CS57563 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984 James Malone http://www.arabidopsis.org/servlets/TairObject?type=stock&id=1000311984 CS57569 CS57569 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158593&type=germplasm CS57570 CS57570 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158594&type=germplasm CS57572 CS57572 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158596&type=germplasm CS57580 CS57580 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158604&type=germplasm CS57581 CS57581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158605&type=germplasm CS57583 CS57583 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158607&type=germplasm CS57586 CS57586 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158610&type=germplasm CS57587 CS57587 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158611&type=germplasm CS57591 CS57591 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158615&type=germplasm CS57595 CS57595 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158619&type=germplasm CS57596 CS57596 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158620&type=germplasm CS57598 CS57598 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158622&type=germplasm CS57601 CS57601 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158625&type=germplasm CS57603 CS57603 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158627&type=germplasm CS57606 CS57606 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158630&type=germplasm CS57610 CS57610 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158634&type=germplasm CS57615 CS57615 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158639&type=germplasm CS57616 CS57616 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158640&type=germplasm CS57618 CS57618 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158642&type=germplasm CS57619 CS57619 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158643&type=germplasm CS57620 CS57620 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158644&type=germplasm CS57621 CS57621 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158645&type=germplasm CS57622 CS57622 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158646&type=germplasm CS57624 CS57624 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158648&type=germplasm CS57625 CS57625 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158649&type=germplasm CS57626 CS57626 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158650&type=germplasm CS57627 CS57627 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158651&type=germplasm CS57628 CS57628 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158652&type=germplasm CS57629 CS57629 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158653&type=germplasm CS57630 CS57630 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158654&type=germplasm CS57631 CS57631 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158655&type=germplasm CS57637 CS57637 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158661&type=germplasm CS57641 CS57641 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158665&type=germplasm CS57644 CS57644 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158668&type=germplasm CS57646 CS57646 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158670&type=germplasm CS57648 CS57648 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158672&type=germplasm CS57655 CS57655 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158679&type=germplasm CS57658 CS57658 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158682&type=germplasm CS57660 CS57660 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158684&type=germplasm CS57663 CS57663 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158687&type=germplasm CS57664 CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158688&type=germplasm CS57666 CS57664 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158690&type=germplasm CS57671 CS57671 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm CS57677 CS57677 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158695&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158701&type=germplasm CS57691 CS57691 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158715&type=germplasm CS57692 CS57692 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158716&type=germplasm CS57699 CS57699 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158723&type=germplasm CS57701 CS57701 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158725&type=germplasm CS57704 CS57704 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158728&type=germplasm CS57705 CS57705 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158729&type=germplasm CS57706 CS57706 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158730&type=germplasm CS57709 CS57709 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158733&type=germplasm CS57710 CS57710 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158734&type=germplasm CS57714 CS57714 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158738&type=germplasm CS57715 CS57715 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158739&type=germplasm CS57716 CS57716 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158740&type=germplasm CS57717 CS57717 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158741&type=germplasm CS57719 CS57719 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158743&type=germplasm CS57722 CS57722 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158746&type=germplasm CS57727 CS57727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158751&type=germplasm CS57731 CS57731 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158755&type=germplasm CS57732 CS57732 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158756&type=germplasm CS57733 CS57733 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158757&type=germplasm CS57735 CS57735 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158759&type=germplasm CS57737 CS57737 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158761&type=germplasm CS57740 CS57740 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158764&type=germplasm CS57742 CS57742 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158766&type=germplasm CS57743 CS57743 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158767&type=germplasm CS57750 CS57750 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158774&type=germplasm CS57751 CS57751 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158775&type=germplasm CS57752 CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm CS57753 CS57753 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158777&type=germplasm CS57758 CS57758 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158782&type=germplasm CS57769 CS57769 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158793&type=germplasm obsolete_Arbisopsis thaliana 2.4 now using NCI taxon URI: http://purl.obolibrary.org/obo/NCBITaxon_3702 true obsolete_B-precursor acute lymphoblastic leukemia 1.5 Duplicate with B-cell acute lymphoblastic leukemia (EFO_0000094) use this instead James Malone true B-cell acute lymphoblastic leukemia A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia). When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003 A neoplasm of lymphoblasts committed to the B-cell lineage, typically composed of small to medium-sized blast cells. When the neoplasm involves predominantly the bone marrow and the peripheral blood, it is called precursor B lymphoblastic leukemia (B-cell acute lymphoblastic leukemia). When it involves nodal or extranodal sites, it is called B lymphoblastic lymphoma. (WHO, 2001) -- 2003[accessedResource: NCIt:C8936][accessDate: 05-04-2011] B Lymphoblastic Leukemia/Lymphoma B Lymphoblastic Leukemia/Lymphoma[accessedResource: NCIt:C8936][accessDate: 05-04-2011] B-ALL B-precursor acute lymphoblastic leukemia DOID:7061 James Malone NCIt:C8936 Precursor B Lymphoblastic Leukemia/Lymphoma Precursor B Lymphoblastic Leukemia/Lymphoma[accessedResource: NCIt:C8936][accessDate: 05-04-2011] Precursor B-Lymphoblastic Lymphoma/Leukemia Precursor B-Lymphoblastic Lymphoma/Leukemia[accessedResource: NCIt:C8936][accessDate: 05-04-2011] precursor B lymphoblastic lymphoma/leukemia precursor B lymphoblastic lymphoma/leukemia[accessedResource: DOID:7061][accessDate: 05-04-2011] chronic lymphocytic leukemia A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease. A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.[accessedResource: MSH:D015451][accessDate: 05-04-2011] B Cell Chronic Lymphocytic Leukemia B Cell Chronic Lymphocytic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011] B Cell Leukemia, Chronic B Cell Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] B Lymphocytic Leukemia, Chronic B Lymphocytic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] B-Cell Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011] B-Cell Leukemia, Chronic B-Cell Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] B-Cell Leukemias, Chronic B-Cell Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] B-Lymphocytic Leukemia, Chronic B-Lymphocytic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] B-Lymphocytic Leukemias, Chronic B-Lymphocytic Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] B-cell chronic lymphocytic leukaemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukaemia/small lymphocytic lymphoma[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality) B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma (morphologic abnormality)[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] CH LYM LEUK WO ACHV RMSN CH LYM LEUK WO ACHV RMSN[accessedResource: ICD9:204.10][accessDate: 05-04-2011] CHR LYM LEUK W/O RMSION CLL CLL - Chronic lymphocytic leukaemia CLL - Chronic lymphocytic leukaemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] CLL - Chronic lymphocytic leukemia CLL - Chronic lymphocytic leukemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] CLL Lymphoplasmacytoid Lymphoma CLL Lymphoplasmacytoid Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] CLL Lymphoplasmacytoid Lymphomas CLL Lymphoplasmacytoid Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic B-Cell Leukemia Chronic B-Cell Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic B-Cell Leukemias Chronic B-Cell Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic B-Lymphocytic Leukemia Chronic B-Lymphocytic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic B-Lymphocytic Leukemias Chronic B-Lymphocytic Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic Lymphoblastic Leukemia Chronic Lymphoblastic Leukemia[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic Lymphoblastic Leukemias Chronic Lymphoblastic Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic Lymphocytic Leukemias Chronic Lymphocytic Leukemias[accessedResource: MSH:D015451][accessDate: 05-04-2011] Chronic lymphatic leukaemia Chronic lymphatic leukaemia[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] Chronic lymphatic leukemia Chronic lymphatic leukemia[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] Chronic lymphocytic leukaemia Chronic lymphocytic leukaemia, B-cell type Chronic lymphocytic leukaemia, B-cell type[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] Chronic lymphocytic leukaemia[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] Chronic lymphocytic leukemia, B-cell type Chronic lymphocytic leukemia, B-cell type[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] Chronic lymphocytic leukemia, morphology (morphologic abnormality) Chronic lymphocytic leukemia, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:51092000][accessDate: 05-04-2011] Chronic lymphoid leukaemia Chronic lymphoid leukaemia, disease Chronic lymphoid leukaemia, disease[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] Chronic lymphoid leukaemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] Chronic lymphoid leukemia Chronic lymphoid leukemia without mention of having achieved remission Chronic lymphoid leukemia without mention of having achieved remission[accessedResource: ICD9:204.10][accessDate: 05-04-2011] Chronic lymphoid leukemia without mention of remission Chronic lymphoid leukemia without mention of remission[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] Chronic lymphoid leukemia, disease Chronic lymphoid leukemia, disease (disorder) Chronic lymphoid leukemia, disease (disorder)[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] Chronic lymphoid leukemia, disease[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] Chronic lymphoid leukemia[accessedResource: SNOMEDCT:92814006][accessDate: 05-04-2011] DIFFUSE WELL DIFFER LYMPHOCYTIC LYMPHOMA DIFFUSE WELL DIFFER LYMPHOCYTIC LYMPHOMA[accessedResource: MSH:D015451][accessDate: 05-04-2011] DOID:1040 Diffuse Well Differentiated Lymphocytic Lymphoma Diffuse Well Differentiated Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] Diffuse Well-Differentiated Lymphocytic Lymphoma Diffuse Well-Differentiated Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] GeneRIF:11042507 GeneRIF:11836173 GeneRIF:11839681 GeneRIF:11891278 GeneRIF:11929789 GeneRIF:11943260 GeneRIF:11981828 GeneRIF:11986939 GeneRIF:11986957 GeneRIF:12002755 GeneRIF:12010662 GeneRIF:12010828 GeneRIF:12011454 GeneRIF:12091354 GeneRIF:12100030 GeneRIF:12127553 GeneRIF:12127555 GeneRIF:12144536 GeneRIF:12176902 GeneRIF:12187026 GeneRIF:12351410 GeneRIF:12359369 GeneRIF:12379312 GeneRIF:12393534 GeneRIF:12393602 GeneRIF:12411322 GeneRIF:12447961 GeneRIF:12454749 GeneRIF:12480711 GeneRIF:12481899 GeneRIF:12521993 GeneRIF:12555221 GeneRIF:12592341 GeneRIF:12595313 GeneRIF:12604404 GeneRIF:12644014 GeneRIF:12700638 GeneRIF:12763926 GeneRIF:12835724 GeneRIF:12854897 GeneRIF:12855567 GeneRIF:12855573 GeneRIF:12857600 GeneRIF:12860021 GeneRIF:12931211 GeneRIF:12958068 GeneRIF:14504101 GeneRIF:14565662 GeneRIF:14574328 GeneRIF:14592423 GeneRIF:14637279 GeneRIF:14654078 GeneRIF:14687618 GeneRIF:14687619 GeneRIF:14689061 GeneRIF:14692527 GeneRIF:14996703 GeneRIF:15052938 GeneRIF:15059847 GeneRIF:15158092 GeneRIF:15160913 GeneRIF:15175625 GeneRIF:15182336 GeneRIF:15183896 GeneRIF:15284121 GeneRIF:15291354 GeneRIF:15325703 GeneRIF:15339846 GeneRIF:15370246 GeneRIF:15370248 GeneRIF:15385937 GeneRIF:15466924 GeneRIF:15470489 GeneRIF:15471955 GeneRIF:15488762 GeneRIF:15514014 GeneRIF:15541476 GeneRIF:15591116 GeneRIF:15613544 GeneRIF:15621797 GeneRIF:15672409 GeneRIF:15674425 GeneRIF:15728130 GeneRIF:15731179 GeneRIF:15759031 GeneRIF:15802535 GeneRIF:15809452 GeneRIF:15861184 GeneRIF:15927846 GeneRIF:15972449 GeneRIF:16014560 GeneRIF:16103882 GeneRIF:16227675 GeneRIF:16295759 ICD9:204.1 ICD9:204.10 James Malone LYMPHOCYTIC LEUKEMIA CHRONIC B LYMPHOCYTIC LEUKEMIA CHRONIC B[accessedResource: MSH:D015451][accessDate: 05-04-2011] LYMPHOCYTIC LYMPHOMA DIFFUSE WELL DIFFER LYMPHOCYTIC LYMPHOMA DIFFUSE WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011] LYMPHOCYTIC LYMPHOMA WELL DIFFER LYMPHOCYTIC LYMPHOMA WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011] LYMPHOMA LYMPHOCYTIC DIFFUSE WELL DIFFER LYMPHOMA LYMPHOCYTIC DIFFUSE WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011] LYMPHOMA LYMPHOCYTIC WELL DIFFER LYMPHOMA LYMPHOCYTIC WELL DIFFER[accessedResource: MSH:D015451][accessDate: 05-04-2011] LYMPHOMA SMALL LYMPHOMA SMALL[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, B Cell, Chronic Leukemia, B Cell, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, B-Cell, Chronic Leukemia, B-Cell, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Chronic B-Cell Leukemia, Chronic B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Chronic B-Lymphocytic Leukemia, Chronic B-Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Chronic Lymphoblastic Leukemia, Chronic Lymphoblastic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Chronic Lymphocytic Leukemia, Chronic Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Lymphoblastic, Chronic Leukemia, Lymphoblastic, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Lymphocytic, Chronic Leukemia, Lymphocytic, Chronic, B Cell Leukemia, Lymphocytic, Chronic, B Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Lymphocytic, Chronic, B-Cell Leukemia, Lymphocytic, Chronic, B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemia, Lymphocytic, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemias, Chronic B-Cell Leukemias, Chronic B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemias, Chronic B-Lymphocytic Leukemias, Chronic B-Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemias, Chronic Lymphoblastic Leukemias, Chronic Lymphoblastic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Leukemias, Chronic Lymphocytic Leukemias, Chronic Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoblastic Leukemia, Chronic Lymphoblastic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoblastic Leukemias, Chronic Lymphoblastic Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Leukemia, Chronic Lymphocytic Leukemia, Chronic, B Cell Lymphocytic Leukemia, Chronic, B Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Leukemia, Chronic, B-Cell Lymphocytic Leukemia, Chronic, B-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Leukemia, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Leukemias, Chronic Lymphocytic Leukemias, Chronic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphoma Lymphocytic Lymphoma, Diffuse, Well Differentiated Lymphocytic Lymphoma, Diffuse, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphoma, Diffuse, Well-Differentiated Lymphocytic Lymphoma, Diffuse, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphoma, Small Lymphocytic Lymphoma, Small[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphoma, Well Differentiated Lymphocytic Lymphoma, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphoma, Well-Differentiated Lymphocytic Lymphoma, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphomas Lymphocytic Lymphomas, Small Lymphocytic Lymphomas, Small[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphomas, Well-Differentiated Lymphocytic Lymphomas, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphocytic Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoid leukemia, chronic Lymphoid leukemia, chronic[accessedResource: ICD9:204.1][accessDate: 05-04-2011] Lymphoma, CLL Lymphoplasmacytoid Lymphoma, CLL Lymphoplasmacytoid[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Lymphocytic Lymphoma, Lymphocytic, Diffuse, Well Differentiated Lymphoma, Lymphocytic, Diffuse, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Lymphocytic, Diffuse, Well-Differentiated Lymphoma, Lymphocytic, Diffuse, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Lymphocytic, Well Differentiated Lymphoma, Lymphocytic, Well Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Lymphocytic, Well-Differentiated Lymphoma, Lymphocytic, Well-Differentiated[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Lymphoplasmacytoid, CLL Lymphoma, Lymphoplasmacytoid, CLL[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Small Cell Lymphoma, Small Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Small Lymphocytic Lymphoma, Small Lymphocytic, Plasmacytoid Lymphoma, Small Lymphocytic, Plasmacytoid[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Small Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Small-Cell Lymphoma, Small-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoma, Well-Differentiated Lymphocytic Lymphoma, Well-Differentiated Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphomas, CLL Lymphoplasmacytoid Lymphomas, CLL Lymphoplasmacytoid[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphomas, Lymphocytic Lymphomas, Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphomas, Small Lymphocytic Lymphomas, Small Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphomas, Small-Cell Lymphomas, Small-Cell[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphomas, Well-Differentiated Lymphocytic Lymphomas, Well-Differentiated Lymphocytic[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoplasmacytoid Lymphoma, CLL Lymphoplasmacytoid Lymphoma, CLL[accessedResource: MSH:D015451][accessDate: 05-04-2011] Lymphoplasmacytoid Lymphomas, CLL Lymphoplasmacytoid Lymphomas, CLL[accessedResource: MSH:D015451][accessDate: 05-04-2011] MSH:D015451 OMIM:109543 SMALL LYMPHOMA SMALL LYMPHOMA[accessedResource: MSH:D015451][accessDate: 05-04-2011] SNOMEDCT:51092000 SNOMEDCT:92814006 Small Cell Lymphoma Small Cell Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] Small Lymphocytic Lymphoma Small Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] Small Lymphocytic Lymphomas Small Lymphocytic Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011] Small-Cell Lymphoma Small-Cell Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] Small-Cell Lymphomas Small-Cell Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011] Tomasz Adamusiak Well-Differentiated Lymphocytic Lymphoma Well-Differentiated Lymphocytic Lymphoma[accessedResource: MSH:D015451][accessDate: 05-04-2011] Well-Differentiated Lymphocytic Lymphomas Well-Differentiated Lymphocytic Lymphomas[accessedResource: MSH:D015451][accessDate: 05-04-2011] true neoplasm of mature B-cells A low-grade malignant lymphoma of follicular pattern in which there is no clear preponderance of one cell type (small or large) over another. The large cells, cleaved or noncleaved, are often 2-3 times larger in diameter than normal lymphocytes. A low-grade malignant lymphoma of follicular pattern in which there is no clear preponderance of one cell type (small or large) over another. The large cells, cleaved or noncleaved, are often 2-3 times larger in diameter than normal lymphocytes.[accessedResource: MSH:D008224][accessDate: 05-04-2011] A low-grade malignant lymphoma of predominantly follicular pattern. Follicles are of relatively uniform size and shape and the cells are usually somewhat larger than normal lymphocytes. Nuclei are irregular with prominent indentations and cytoplasm can rarely be identified. Cells exhibiting these characteristics are often called centrocytes. A low-grade malignant lymphoma of predominantly follicular pattern. Follicles are of relatively uniform size and shape and the cells are usually somewhat larger than normal lymphocytes. Nuclei are irregular with prominent indentations and cytoplasm can rarely be identified. Cells exhibiting these characteristics are often called centrocytes.[accessedResource: MSH:D008224][accessDate: 05-04-2011] B-Cell Non Hodgkin's Lymphoma B-Cell Non Hodgkin's Lymphoma[accessedResource: C3457][accessDate: 05-04-2011] B-Cell Non-Hodgkin Lymphoma B-Cell Non-Hodgkin Lymphoma[accessedResource: C3457][accessDate: 05-04-2011] B-Cell Non-Hodgkin's Lymphoma B-Cell Non-Hodgkin's Lymphoma[accessedResource: C3457][accessDate: 05-04-2011] B-cell lymphoma BRILL SYMMERS DIS BRILL SYMMERS DIS[accessedResource: MSH:D008224][accessDate: 05-04-2011] Brill Symmers Disease Brill Symmers Disease[accessedResource: MSH:D008224][accessDate: 05-04-2011] Brill-Symmers Disease Brill-Symmers Disease[accessedResource: MSH:D008224][accessDate: 05-04-2011] C3457 Disease, Brill-Symmers Disease, Brill-Symmers[accessedResource: MSH:D008224][accessDate: 05-04-2011] FOLLIC LARGE LYMPHOMA FOLLIC LARGE LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011] FOLLIC LYMPHOMA FOLLIC LYMPHOMA GIANT FOLLIC LYMPHOMA GIANT[accessedResource: MSH:D008224][accessDate: 05-04-2011] FOLLIC LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011] FOLLIC MIXED LYMPHOMA FOLLIC MIXED LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Large Cell Lymphoma Follicular Large Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Large-Cell Lymphoma Follicular Large-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Large-Cell Lymphomas Follicular Large-Cell Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Lymphoma Follicular Lymphoma, Giant Follicular Lymphoma, Giant[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Lymphoma, Grade 1 Follicular Lymphoma, Grade 1[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Lymphoma, Grade 2 Follicular Lymphoma, Grade 2[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Lymphoma, Grade 3 Follicular Lymphoma, Grade 3[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Lymphomas Follicular Lymphomas, Giant Follicular Lymphomas, Giant[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Mixed Cell Lymphoma Follicular Mixed Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Mixed-Cell Lymphoma Follicular Mixed-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Follicular Mixed-Cell Lymphomas Follicular Mixed-Cell Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011] GIANT FOLLIC LYMPHOMA GIANT FOLLIC LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011] Giant Follicular Lymphoma Giant Follicular Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Giant Follicular Lymphomas Giant Follicular Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011] Histiocytic Lymphoma, Nodular Histiocytic Lymphoma, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Histiocytic Lymphomas, Nodular Histiocytic Lymphomas, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011] James Malone LARGE LYMPHOMA FOLLIC LARGE LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOCYTIC LYMPHOMA NODULAR POORLY DIFFER LYMPHOCYTIC LYMPHOMA NODULAR POORLY DIFFER[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA FOLLIC LYMPHOMA FOLLIC LARGE LYMPHOMA FOLLIC LARGE[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA FOLLIC MIXED LYMPHOMA FOLLIC MIXED LYMPHOCYTIC HISTIOCYTIC LYMPHOMA FOLLIC MIXED LYMPHOCYTIC HISTIOCYTIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA FOLLIC MIXED SMALL LARGE LYMPHOID LYMPHOMA FOLLIC MIXED SMALL LARGE LYMPHOID[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA FOLLIC MIXED[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA FOLLIC SMALL LARGE CLEAVED LYMPHOMA FOLLIC SMALL LARGE CLEAVED[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA GIANT FOLLIC LYMPHOMA GIANT FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA LARGE FOLLIC LYMPHOMA LARGE FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA LYMPHOCYTIC NODULAR POORLY DIFFER LYMPHOMA LYMPHOCYTIC NODULAR POORLY DIFFER[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA MIXED FOLLIC LYMPHOMA MIXED FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA NODULAR LARGE FOLLIC CENTER LYMPHOMA NODULAR LARGE FOLLIC CENTER[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA NODULAR MIXED SMALL LARGE LYMPHOMA NODULAR MIXED SMALL LARGE[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA SMALL CLEAVED CELL FOLLIC LYMPHOMA SMALL CLEAVED CELL FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA SMALL CLEAVED FOLLIC LYMPHOMA SMALL CLEAVED FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA SMALL FOLLIC CENTER LYMPHOMA SMALL FOLLIC CENTER[accessedResource: MSH:D008224][accessDate: 05-04-2011] LYMPHOMA SMALL LYMPHOID FOLLIC LYMPHOMA SMALL LYMPHOID FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] Large Cell Lymphoma, Follicular Large Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Large Lymphoid Lymphoma, Nodular Large Lymphoid Lymphoma, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Large-Cell Lymphoma, Follicular Large-Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Large-Cell Lymphomas, Follicular Large-Cell Lymphomas, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphocytic Lymphoma, Nodular, Poorly Differentiated Lymphocytic Lymphoma, Nodular, Poorly Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphocytic Lymphoma, Nodular, Poorly-Differentiated Lymphocytic Lymphoma, Nodular, Poorly-Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular Lymphoma, Follicular Large Cell Lymphoma, Follicular Large Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular Large-Cell Lymphoma, Follicular Large-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular Mixed-Cell Lymphoma, Follicular Mixed-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Grade 1 Lymphoma, Follicular, Grade 1[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Grade 2 Lymphoma, Follicular, Grade 2[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Grade 3 Lymphoma, Follicular, Grade 3[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Mixed Cell Lymphoma, Follicular, Mixed Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Mixed Small and Large Lymphoid Lymphoma, Follicular, Mixed Small and Large Lymphoid[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Small and Large Cleaved Cell Lymphoma, Follicular, Small and Large Cleaved Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular, Small and Large Cleaved-Cell Lymphoma, Follicular, Small and Large Cleaved-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Giant Follicular Lymphoma, Giant Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Histiocytic, Nodular Lymphoma, Histiocytic, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Large Cell, Follicular Lymphoma, Large Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Large Lymphoid, Nodular Lymphoma, Large Lymphoid, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Large-Cell, Follicular Lymphoma, Large-Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Lymphocytic, Nodular, Poorly Differentiated Lymphoma, Lymphocytic, Nodular, Poorly Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Mixed-Cell, Follicular Lymphoma, Mixed-Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Nodular Lymphoma, Nodular Histiocytic Lymphoma, Nodular Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Nodular, Large Follicular Center Cell Lymphoma, Nodular, Large Follicular Center Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Nodular, Large Follicular Center-Cell Lymphoma, Nodular, Large Follicular Center-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Nodular, Mixed Lymphocytic Histiocytic Lymphoma, Nodular, Mixed Lymphocytic Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Nodular, Mixed Small and Large Cell Lymphoma, Nodular, Mixed Small and Large Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Small Cleaved Cell, Follicular Lymphoma, Small Cleaved Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Small Cleaved-Cell, Follicular Lymphoma, Small Cleaved-Cell, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Small Follicular Center Cell Lymphoma, Small Follicular Center Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Small Follicular Center-Cell Lymphoma, Small Follicular Center-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphoma, Small Lymphoid, Follicular Lymphoma, Small Lymphoid, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphomas Non-Hodgkin's B-Cell Lymphomas Non-Hodgkin's B-Cell[accessedResource: C3457][accessDate: 05-04-2011] Lymphomas, Follicular Lymphomas, Follicular Large-Cell Lymphomas, Follicular Large-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphomas, Follicular Mixed-Cell Lymphomas, Follicular Mixed-Cell[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphomas, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphomas, Giant Follicular Lymphomas, Giant Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphomas, Nodular Lymphomas, Nodular Histiocytic Lymphomas, Nodular Histiocytic[accessedResource: MSH:D008224][accessDate: 05-04-2011] Lymphomas, Nodular[accessedResource: MSH:D008224][accessDate: 05-04-2011] MIXED LYMPHOMA FOLLIC MIXED LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] MSH:D008224 Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES. Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.[accessedResource: MSH:D008224][accessDate: 05-04-2011] Malignant lymphoma in which the majority of neoplastic cells within the follicles are large cleaved or noncleaved cells. The degree to which the follicular center cells retain their ability to form follicles varies with the state of B-cell transformation. Malignant lymphoma in which the majority of neoplastic cells within the follicles are large cleaved or noncleaved cells. The degree to which the follicular center cells retain their ability to form follicles varies with the state of B-cell transformation.[accessedResource: MSH:D008224][accessDate: 05-04-2011] Mixed Cell Lymphoma, Follicular Mixed Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Mixed-Cell Lymphoma, Follicular Mixed-Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Mixed-Cell Lymphomas, Follicular Mixed-Cell Lymphomas, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] NODULAR LARGE FOLLIC CENTER LYMPHOMA NODULAR LARGE FOLLIC CENTER LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011] Nodular Histiocytic Lymphoma Nodular Histiocytic Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Nodular Histiocytic Lymphomas Nodular Histiocytic Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011] Nodular Large Follicular Center Cell Lymphoma Nodular Large Follicular Center Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Nodular Large Follicular Center-Cell Lymphoma Nodular Large Follicular Center-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Nodular Lymphoma Nodular Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Nodular Lymphomas Nodular Lymphomas[accessedResource: MSH:D008224][accessDate: 05-04-2011] Non-Hodgkin's B-Cell Lymphoma Non-Hodgkin's B-Cell Lymphoma[accessedResource: C3457][accessDate: 05-04-2011] Non-Hodgkin's Lymphoma B-Cell Non-Hodgkin's Lymphoma B-Cell[accessedResource: C3457][accessDate: 05-04-2011] SMALL CLEAVED LYMPHOMA FOLLIC SMALL CLEAVED LYMPHOMA FOLLIC[accessedResource: MSH:D008224][accessDate: 05-04-2011] SMALL FOLLIC CENTER LYMPHOMA SMALL FOLLIC CENTER LYMPHOMA[accessedResource: MSH:D008224][accessDate: 05-04-2011] Small Cleaved Cell Lymphoma, Follicular Small Cleaved Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Small Cleaved-Cell Lymphoma, Follicular Small Cleaved-Cell Lymphoma, Follicular[accessedResource: MSH:D008224][accessDate: 05-04-2011] Small Follicular Center Cell Lymphoma Small Follicular Center Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] Small Follicular Center-Cell Lymphoma Small Follicular Center-Cell Lymphoma[accessedResource: MSH:D008224][accessDate: 05-04-2011] The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003 The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003[accessedResource: C3457][accessDate: 05-04-2011] Tomasz Adamusiak peripheral B-cell neoplasm true obsolete_B-lymphocyte A lymphocyte of B lineage with the phenotype CD19-positive and surface immunoglobulin-positive. CL:0000236 Consolidated with B cell (EFO_0000101), use B cell class instead. Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins. NCIt:C12474 true BY4741 James Malone obsolete_BY4741 1.8 Duplicate use EFO_0000099 James Malone true BY5251 James Malone obsolete_B lymphocyte CL:0000236 Consolidated with B cell (EFO_0000101), use B cell class instead. Immunologically important lymphocyte that is not thymus-dependent, is either short-lived and naive or long-lived and of memory phenotype, and resembles the bursa-derived lymphocyte of birds in that it is responsible for the production of immunoglobulins. NCIt:C12474 true obsolete_Becker's muscular dystrophy Benign pseudohypertrophic muscular dystrophy DOID:14691 James Malone OMIM:300376 Tomasz Adamusiak pseudohypertrophic progressive duchenne and becker types muscular dystrophy true 2.32 Becker muscular dystrophy (also known as Benign pseudohypertrophic muscular dystrophy) is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. use 'http://www.orphanet.org/rdfns#pat_id_13912' instead. New Label : Becker muscular dystrophy obsolete_CNS brain cerebellum MMHCC James Malone NCIt:C22609 Obsolete: No longer required in EFO true obsolete_CNS brain hippocampus MMHCC NCIt:C22615 Obsolete - term hippocampus already exists true obsolete_hypothalamus A basal part of the diencephalon that lies beneath the thalamus on each side, forms the floor of the third ventricle, and includes vital autonomic regulatory centers.nThe ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis. A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995. A specialized brain region of the ventral diencephalon arising near the end of the segmentation period; the embryonic hypothalamic region will give rise to the posterior pituitary gland as well as a number of brain nuclei. Kimmel et al, 1995.[accessedResource: TAO:0000032][accessDate: 05-04-2011] BTO:0000614 CNS - Brain - Hypothalamus (MMHCC) CNS - Brain - Hypothalamus (MMHCC)[accessedResource: NCIt:C22616][accessDate: 05-04-2011] EHDAA:5446 EMAPA:17536 EV:0100225 FMAID:62008 James Malone MA:0000173 MAT:0000112 Multi-tissue structure which is the largest portion of diencephalon and is ventrally located. The hypothalamus arises near the end of the segmentation period and the embryonic hypothalamic region gives rise to the neurohypophysis and other diencephalic nuclei. Multi-tissue structure which is the largest portion of diencephalon and is ventrally located. The hypothalamus arises near the end of the segmentation period and the embryonic hypothalamic region gives rise to the neurohypophysis and other diencephalic nuclei.[accessedResource: ZFA:0000032][accessDate: 05-04-2011] NCIt:C22616 NIFSTD:birnlex_734 Preoptico-hypothalamic area Preoptico-hypothalamic area[accessedResource: FMAID:62008][accessDate: 05-04-2011] Preoptico-hypothalamic region Preoptico-hypothalamic region[accessedResource: FMAID:62008][accessDate: 05-04-2011] SAEL:52 TAO:0000032 The ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis. The ventral part of the diencephalon that forms the floor and part of the lateral wall of the third ventricle. Anatomically, it includes the preoptic area, optic tract, optic chiasm, mammillary bodies, tuber cinereum, infundibulum, and neurohypophysis, but for physiological purposes the neurohypophysis is considered a distinct structure. The hypothalamus may be divided into five regions or areas (area hypothalamica rostralis, area hypothalamica dorsalis, area hypothalamica intermedia, area hypothalamica lateralis and area hypothalamica posterior) or into three longitudinal zones (periventricular zone, medial zone, and lateral zone). The hypothalamic nuclei constitute that part of the corticodiencephalic mechanism that activates, controls and integrates the peripheral autonomic mechanisms, endocrine activity, and many somatic functions, e.g., a general regulation of water balance, body temperature, sleep, and food intake, and the development of secondary sex characteristics. The hypothalamus secretes vasopressin and oxytocin, which are stored in the pituitary, as well as many releasing factors (hypophysiotropic hormones), by means of which it exerts control over functions of the adenohypophysis.[accessedResource: BTO:0000614][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000032 Use http://purl.obolibrary.org/obo/UBERON_0001898 label: hypothalamus true 2.38 obsolete_olfactory lobe An anterior projection of each cerebral hemisphere that is continuous anteriorly with the olfactory nerve;nA term applied to the olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone. An anterior projection of each cerebral hemisphere that is continuous anteriorly with the olfactory nerve;nA term applied to the olfactory apparatus on the lower surface of the frontal lobe of the brain. It consists of the olfactory bulb, tract, and trigone.[accessedResource: BTO:0001362][accessDate: 05-04-2011] BTO:0001362 Brain structure which is the paired anteriormost part of the telencephalon and are connected to the telencephalon by two tracts carrying secondary olfactory fibers. From Neuroanatomy of the Zebrafish Brain. Brain structure which is the paired anteriormost part of the telencephalon and are connected to the telencephalon by two tracts carrying secondary olfactory fibers. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000402][accessDate: 05-04-2011] CNS - Brain - Olfactory Bulb (MMHCC) CNS - Brain - Olfactory Bulb (MMHCC)[accessedResource: NCIt:C22619][accessDate: 05-04-2011] EHDAA:5480 EMAPA:17778 EV:0100173 FMAID:77624 James Malone MAT:0000116 NCIt:C22619 SAEL:75 Segment of neural tree organ which is continuous with a set of olfactory nerves and an olfactory tract. ZFA:0000402 bulbus olfactorius bulbus olfactorius[accessedResource: ZFA:0000402][accessDate: 05-04-2011] olfactory bulb olfactory bulb[accessedResource: ZFA:0000402][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0005366 label: olfactory lobe 2.38 true obsolete_CNS brain striatum MMHCC NCIt:C22622 Use corpus striatum instead (EFO_0000381) true obsolete_spinal cord BTO:0001279 EHDAA:2863 EMAPA:17577 EV:0100316 FMAID:7647 James Malone MA:0000216 MAT:0000183 MFO:0002860 SAEL:100 Segment of neuraxis that has as its parts gray matter and white matter that surround the central canal. Examples: There is only one spinal cord. TAO:0000075 The cord of nervous tissue that extends from the brain lengthwise along the back in the vertebral canal, gives off the pairs of spinal nerves, carries impulses to and from the brain, and serves as a center for initiating and coordinating many reflex acts. The cord of nervous tissue that extends from the brain lengthwise along the back in the vertebral canal, gives off the pairs of spinal nerves, carries impulses to and from the brain, and serves as a center for initiating and coordinating many reflex acts.[accessedResource: BTO:0001279][accessDate: 05-04-2011] XAO:0000020 ZFA:0000075 medulla spinalis spinal cord structure spinal medulla 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002240 label: spinal cord CS57770 CS57770 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158794&type=germplasm CS57771 CS57771 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158795&type=germplasm CS57776 CS57776 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158800&type=germplasm CS57777 CS57777 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158801&type=germplasm CS57778 CS57778 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158802&type=germplasm CS57779 CS57779 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158803&type=germplasm CS57783 CS57783 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158807&type=germplasm CS57785 CS57785 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158809&type=germplasm CS57789 CS57789 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158813&type=germplasm CS57790 CS57790 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158814&type=germplasm CS57801 CS57801 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158825&type=germplasm CS57803 CS57803 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158827&type=germplasm CS57807 CS57807 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158831&type=germplasm CS57810 CS57810 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158834&type=germplasm CS57811 CS57811 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158835&type=germplasm CS57812 CS57812 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158836&type=germplasm CS57813 CS57813 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158837&type=germplasm CS57816 CS57816 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158840&type=germplasm CS57820 CS57820 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158844&type=germplasm CS57822 CS57822 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158846&type=germplasm CS57823 CS57823 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158847&type=germplasm CS57824 CS57824 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158848&type=germplasm CS57825 CS57825 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158849&type=germplasm CS57826 CS57826 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158850&type=germplasm CS57827 CS57827 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158851&type=germplasm CS57828 CS57828 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158852&type=germplasm CS57834 CS57834 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158858&type=germplasm CS57835 CS57835 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158859&type=germplasm CS57836 CS57836 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158860&type=germplasm CS57840 CS57840 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158864&type=germplasm CS57842 CS57842 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158866&type=germplasm CS57843 CS57843 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158867&type=germplasm CS57847 CS57847 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158871&type=germplasm CS57848 CS57848 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158872&type=germplasm CS57850 CS57850 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158874&type=germplasm CS57854 CS57854 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158878&type=germplasm CS57858 CS57858 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158882&type=germplasm CS57859 CS57859 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158883&type=germplasm CS57867 CS57867 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158891&type=germplasm CS57870 CS57870 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158894&type=germplasm CS57871 CS57871 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158895&type=germplasm CS57873 CS57873 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158897&type=germplasm CS57874 CS57874 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158898&type=germplasm CS57875 CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm CS57876 CS57876 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158900&type=germplasm CS57883 CS57883 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158907&type=germplasm CS57884 CS57884 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158908&type=germplasm CS57886 CS57886 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158910&type=germplasm CS57890 CS57890 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158914&type=germplasm CS57896 CS57896 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158920&type=germplasm CS57901 CS57901 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158925&type=germplasm CS57904 CS57904 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158928&type=germplasm CS57905 CS57905 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158929&type=germplasm CS57908 CS57908 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005158932&type=germplasm CS57923 CS57923 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005164919&type=germplasm CS57924 CS57924 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=1005164920&type=germplasm CS8581 CS8581 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm James Malone http://www.arabidopsis.org/servlets/TairObject?id=4473197&type=germplasm obsolete_CTL sensitivity true obsolete_chronic lymphocytic leukemia Duplicate with chronic lymphocytic leukemia (EFO_0000095) use this instead James Malone OntologyMappingImporter following DOID:1040 true DEL cells A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast. A multilayer of deep cells of fairly uniform thickness that forms during early epiboly (at dome stage; upon conversion of the blastodisc to the blastoderm); during gastrulation the DEL (deep cell layer) gives rise to the epiblast and hypoblast.[accessedResource: ZFA:0000711][accessDate: 05-04-2011] DEL DEL[accessedResource: ZFA:0000711][accessDate: 05-04-2011] James Malone ZFA:0000711 deep cell layer deep cell layer[accessedResource: ZFA:0000711][accessDate: 05-04-2011] obsolete_Daudi Burkitt's lymphoma cell line 2.6.1 A Daudi Burkitt's lymphoma cell line is a cell line. A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma. James Malone Natural Language Generator 8th April 2010 duplicate of Daudi http://www.ebi.ac.uk/efo/EFO_0002169 obsolete_Daudi Burkitt's lymphoma cell line true obsolete_Ewing family tumor 1.8 A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed) DOID:3369 GeneRIF:11313995 GeneRIF:11956622 GeneRIF:11992404 GeneRIF:12054564 GeneRIF:12172985 GeneRIF:12447693 GeneRIF:12527902 GeneRIF:12557222 GeneRIF:12700668 GeneRIF:14528100 GeneRIF:14977835 GeneRIF:15044653 GeneRIF:15077162 GeneRIF:15273724 GeneRIF:15282325 GeneRIF:15310753 GeneRIF:15328192 GeneRIF:15581626 GeneRIF:15748890 GeneRIF:15919668 James Malone MSH:D012512 NCIt:C27291 NCIt:C4817 SNOMEDCT:76909002 duplicate of EFO_0000174 Ewing's sarcoma true Ewing sarcoma A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed) A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)[accessedResource: MSH:D012512][accessDate: 05-04-2011] A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms. A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.[accessedResource: NCIt:C4817][accessDate: 05-04-2011] A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. -- 2004 A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Askin tumor (morphologic abnormality) Askin tumor (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011] Askin's tumor Askin's tumor (morphologic abnormality) Askin's tumor (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011] Askin's tumor[accessedResource: DOID:3369][accessDate: 05-04-2011] DOID:3369 EFTs EFTs[accessedResource: NCIt:C27291][accessDate: 05-04-2011] ES ES[accessedResource: NCIt:C4817][accessDate: 05-04-2011] Ewing Family of Tumors Ewing Family of Tumors[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Ewing Tumor Ewing Tumor[accessedResource: MSH:D012512][accessDate: 05-04-2011] Ewing sarcoma family of tumors Ewing sarcoma family of tumors[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Ewing's Family of Tumors Ewing's Family of Tumors[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Ewing's Family of Tumours Ewing's Family of Tumours[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Ewing's Sarcoma Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Ewing's Tumor[accessedResource: NCIt:C4817][accessDate: 05-04-2011] Ewing's sarcoma (morphologic abnormality) Ewing's sarcoma (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011] Ewing's sarcoma[accessedResource: SNOMEDCT:76909002][accessDate: 05-04-2011] Ewing's tumor Ewing's tumour Ewing's tumour[accessedResource: SNOMEDCT:76909002][accessDate: 05-04-2011] Ewings Tumor Ewings Tumor[accessedResource: MSH:D012512][accessDate: 05-04-2011] Ewings sarcoma Ewings sarcoma-primitive neuroectodermal tumor Ewings sarcoma-primitive neuroectodermal tumor[accessedResource: DOID:3369][accessDate: 05-04-2011] Ewings sarcoma[accessedResource: DOID:3369][accessDate: 05-04-2011] GeneRIF:11313995 GeneRIF:11956622 GeneRIF:11992404 GeneRIF:12054564 GeneRIF:12172985 GeneRIF:12447693 GeneRIF:12527902 GeneRIF:12557222 GeneRIF:12700668 GeneRIF:14528100 GeneRIF:14977835 GeneRIF:15044653 GeneRIF:15077162 GeneRIF:15273724 GeneRIF:15282325 GeneRIF:15310753 GeneRIF:15328192 GeneRIF:15581626 GeneRIF:15748890 GeneRIF:15919668 James Malone MSH:D012512 NCIt:C27291 NCIt:C4817 PNET of Thoracopulmonary Region PNET of Thoracopulmonary Region[accessedResource: DOID:3369][accessDate: 05-04-2011] SNOMEDCT:76909002 Sarcoma, Ewing Sarcoma, Ewing's Sarcoma, Ewing's[accessedResource: MSH:D012512][accessDate: 05-04-2011] Sarcoma, Ewing[accessedResource: MSH:D012512][accessDate: 05-04-2011] Sarcoma, Ewings Sarcoma, Ewings[accessedResource: MSH:D012512][accessDate: 05-04-2011] Tomasz Adamusiak Tumor, Ewing's Tumor, Ewing's[accessedResource: MSH:D012512][accessDate: 05-04-2011] Tumors of Ewing's Family Tumors of Ewing's Family[accessedResource: NCIt:C27291][accessDate: 05-04-2011] Tumors of the Ewing's Family Tumors of the Ewing's Family[accessedResource: NCIt:C27291][accessDate: 05-04-2011] peripheral Neuroectodermal neoplasm peripheral Neuroectodermal neoplasm[accessedResource: DOID:3369][accessDate: 05-04-2011] peripheral neuroectodermal tumor (disorder) peripheral neuroectodermal tumor (disorder)[accessedResource: DOID:3369][accessDate: 05-04-2011] peripheral neuroectodermal tumor (morphologic abnormality) peripheral neuroectodermal tumor (morphologic abnormality)[accessedResource: DOID:3369][accessDate: 05-04-2011] peripheral neuroepithelioma (disorder) peripheral neuroepithelioma (disorder)[accessedResource: DOID:3369][accessDate: 05-04-2011] FUM1 FUM1 is a yeast strain as described in http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true James Malone http://www.genedb.org/genedb/Search?organism=cerevisiae&name=YPL262W&isid=true Fischer 344 F344 Fisher344 is a rat strain as described in http://www.ratmap.org/ShowStrainDetails.html?strain=72 James Malone http://www.ratmap.org/ShowStrainDetails.html?strain=72 gastric carcinoma CA IN SITU STOMACH CA IN SITU STOMACH[accessedResource: ICD9:230.2][accessDate: 05-04-2011] Carcinoma in situ of stomach DOID:9138 ICD9:230.2 James Malone carcinoma in situ of stomach (disorder) carcinoma in situ of stomach (disorder)[accessedResource: DOID:9138][accessDate: 05-04-2011] carcinoma in situ of stomach NOS (disorder) carcinoma in situ of stomach NOS (disorder)[accessedResource: DOID:9138][accessDate: 05-04-2011] carcinoma in situ of stomach[accessedResource: DOID:9138][accessDate: 05-04-2011] gastric cancer gastric carcinoma in situ gastric carcinoma in situ[accessedResource: DOID:9138][accessDate: 05-04-2011] Goto-Kakizaki Goto-Kakizaki is a rat strain as described in http://www.taconic.com/wmspage.cfm?parm1=757 James Malone http://www.taconic.com/wmspage.cfm?parm1=757 HIV-1 infection HIV-1 seropositive Human Immunodeficiency Virus 1 Human Immunodeficiency Virus 1[accessedResource: NCIt:C14220][accessDate: 05-04-2011] Human Immunodeficiency Virus, Type 1 Human Immunodeficiency Virus, Type 1[accessedResource: NCIt:C14220][accessDate: 05-04-2011] James Malone MSH:D015497 NCIt:C14220 OMIM:609423 The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte. The type species of lentivirus and the etiologic agent of acquired immunodeficiency syndrome (AIDS). It is characterized by its cytopathic effect and affinity for the T4-lymphocyte.[accessedResource: NCIt:C14220][accessDate: 05-04-2011] Tomasz Adamusiak true head and neck squamous cell carcinoma A carcinoma of any tissue within the head and neck region. A carcinoma of any tissue within the head and neck region.[accessedResource: NCIt:C35850][accessDate: 05-04-2011] A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.[accessedResource: NCIt:C34447][accessDate: 05-04-2011] Carcinoma of Head and Neck Carcinoma of Head and Neck[accessedResource: NCIt:C35850][accessDate: 05-04-2011] DOID:5520 Head and Neck Carcinoma Head and Neck Carcinoma[accessedResource: NCIt:C35850][accessDate: 05-04-2011] James Malone NCIt:C34447 NCIt:C35850 OMIM:275355 SCCHN SCCHN[accessedResource: NCIt:C34447][accessDate: 05-04-2011] Squamous Cell Carcinoma of Head and Neck Squamous Cell Carcinoma of Head and Neck[accessedResource: NCIt:C34447][accessDate: 05-04-2011] Squamous Cell Carcinoma of the Head and Neck[accessedResource: NCIt:C34447][accessDate: 05-04-2011] Tomasz Adamusiak carcinoma of the head and neck carcinoma of the head and neck[accessedResource: DOID:5520][accessDate: 05-04-2011] squamous cell carcinoma of the head and neck hepatocellular carcinoma A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002 A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.[accessedResource: NCIt:C3099][accessDate: 05-04-2011] A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested. A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.[accessedResource: MSH:D006528][accessDate: 05-04-2011] Adult Liver Cancer Adult Liver Cancer[accessedResource: MSH:D006528][accessDate: 05-04-2011] Adult Liver Cancers Adult Liver Cancers[accessedResource: MSH:D006528][accessDate: 05-04-2011] Cancer of Liver Cancer of Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011] Cancer of the Liver Cancer of the Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011] Cancer, Adult Liver Cancer, Adult Liver[accessedResource: MSH:D006528][accessDate: 05-04-2011] Cancer, Hepatic Cancer, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011] Cancer, Hepatocellular Cancer, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011] Cancer, Liver Cancer, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011] Cancers, Adult Liver Cancers, Adult Liver[accessedResource: MSH:D006528][accessDate: 05-04-2011] Cancers, Hepatic Cancers, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011] Cancers, Hepatocellular Cancers, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011] Cancers, Liver Cancers, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011] Carcinoma of Liver Cells Carcinoma of Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011] Carcinoma of the Liver Cells Carcinoma of the Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011] Carcinoma, Hepatocellular Carcinoma, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011] Carcinomas, Hepatocellular Carcinomas, Hepatocellular[accessedResource: MSH:D006528][accessDate: 05-04-2011] HCC HCC[accessedResource: NCIt:C3099][accessDate: 05-04-2011] HEPATIC NEOPL HEPATIC NEOPL[accessedResource: MSH:D008113][accessDate: 05-04-2011] Hepatic Cancer Hepatic Cancer[accessedResource: MSH:D008113][accessDate: 05-04-2011] Hepatic Cancers Hepatic Cancers[accessedResource: MSH:D008113][accessDate: 05-04-2011] Hepatic Neoplasm Hepatic Neoplasm[accessedResource: MSH:D008113][accessDate: 05-04-2011] Hepatic Neoplasms Hepatic Neoplasms[accessedResource: MSH:D008113][accessDate: 05-04-2011] Hepatocellular Cancer Hepatocellular Cancer[accessedResource: MSH:D006528][accessDate: 05-04-2011] Hepatocellular Cancers Hepatocellular Cancers[accessedResource: MSH:D006528][accessDate: 05-04-2011] Hepatocellular Carcinomas Hepatocellular Carcinomas[accessedResource: MSH:D006528][accessDate: 05-04-2011] Hepatoma Hepatoma[accessedResource: NCIt:C3099][accessDate: 05-04-2011] Hepatomas Hepatomas[accessedResource: MSH:D006528][accessDate: 05-04-2011] James Malone LIVER NEOPL LIVER NEOPL[accessedResource: MSH:D008113][accessDate: 05-04-2011] Liver Cancer Liver Cancer, Adult Liver Cancer, Adult[accessedResource: MSH:D006528][accessDate: 05-04-2011] Liver Cancer[accessedResource: MSH:D008113][accessDate: 05-04-2011] Liver Cancers Liver Cancers, Adult Liver Cancers, Adult[accessedResource: MSH:D006528][accessDate: 05-04-2011] Liver Cancers[accessedResource: MSH:D008113][accessDate: 05-04-2011] Liver Cell Cancer (Hepatocellular Carcinoma) Liver Cell Cancer (Hepatocellular Carcinoma)[accessedResource: NCIt:C3099][accessDate: 05-04-2011] Liver Cell Carcinoma Liver Cell Carcinoma, Adult Liver Cell Carcinoma, Adult[accessedResource: MSH:D006528][accessDate: 05-04-2011] Liver Cell Carcinoma[accessedResource: NCIt:C3099][accessDate: 05-04-2011] Liver Neoplasm Liver Neoplasm[accessedResource: MSH:D008113][accessDate: 05-04-2011] Liver Neoplasms Liver Neoplasms[accessedResource: MSH:D008113][accessDate: 05-04-2011] MSH:D006528 MSH:D008113 NCIt:C3099 NEOPL HEPATIC NEOPL HEPATIC[accessedResource: MSH:D008113][accessDate: 05-04-2011] NEOPL LIVER NEOPL LIVER[accessedResource: MSH:D008113][accessDate: 05-04-2011] Neoplasm, Hepatic Neoplasm, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011] Neoplasm, Liver Neoplasm, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011] Neoplasms, Hepatic Neoplasms, Hepatic[accessedResource: MSH:D008113][accessDate: 05-04-2011] Neoplasms, Liver Neoplasms, Liver[accessedResource: MSH:D008113][accessDate: 05-04-2011] OMIM:114550 Primary Carcinoma of Liver Cells Primary Carcinoma of Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011] Primary Carcinoma of the Liver Cells Primary Carcinoma of the Liver Cells[accessedResource: NCIt:C3099][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the LIVER. Tumors or cancer of the LIVER.[accessedResource: MSH:D008113][accessDate: 05-04-2011] true Hodgkins lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.[accessedResource: DOID:8567][accessDate: 05-04-2011] A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen. A malignant disease characterized by progressive enlargement of the lymph nodes, spleen, and general lymphoid tissue. In the classical variant, giant usually multinucleate Hodgkin's and REED-STERNBERG CELLS are present; in the nodular lymphocyte predominant variant, lymphocytic and histiocytic cells are seen.[accessedResource: MSH:D006689][accessDate: 05-04-2011] Adult Hodgkin Lymphoma Adult Hodgkin Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] DOID:8567 Disease, Hodgkin Disease, Hodgkin's Disease, Hodgkin's[accessedResource: MSH:D006689][accessDate: 05-04-2011] Disease, Hodgkin[accessedResource: MSH:D006689][accessDate: 05-04-2011] Disease, Hodgkins Disease, Hodgkins[accessedResource: MSH:D006689][accessDate: 05-04-2011] GeneRIF:11830502 GeneRIF:11839577 GeneRIF:11839668 GeneRIF:11855781 GeneRIF:11929801 GeneRIF:11956621 GeneRIF:11986952 GeneRIF:12011765 GeneRIF:12038453 GeneRIF:12070005 GeneRIF:12091121 GeneRIF:12145210 GeneRIF:12152987 GeneRIF:12174874 GeneRIF:12389614 GeneRIF:12389626 GeneRIF:12393409 GeneRIF:12429802 GeneRIF:12431239 GeneRIF:12456498 GeneRIF:12478664 GeneRIF:12594824 GeneRIF:12609061 GeneRIF:12824192 GeneRIF:12875982 GeneRIF:12969974 GeneRIF:14645011 GeneRIF:14654080 GeneRIF:14959851 GeneRIF:14959852 GeneRIF:14961078 GeneRIF:14962256 GeneRIF:15026356 GeneRIF:15105810 GeneRIF:15120936 GeneRIF:15291355 GeneRIF:15526025 GeneRIF:15551733 GeneRIF:15556690 GeneRIF:15585627 GeneRIF:15638381 GeneRIF:15712176 GeneRIF:15772702 GeneRIF:15796964 GeneRIF:15912144 GeneRIF:15933052 GeneRIF:16108827 GeneRIF:16123212 Granuloma, Hodgkin Granuloma, Hodgkin's Granuloma, Hodgkin's[accessedResource: MSH:D006689][accessDate: 05-04-2011] Granuloma, Hodgkin[accessedResource: MSH:D006689][accessDate: 05-04-2011] Granuloma, Hodgkins Granuloma, Hodgkins[accessedResource: MSH:D006689][accessDate: 05-04-2011] Granuloma, Malignant Granuloma, Malignant[accessedResource: MSH:D006689][accessDate: 05-04-2011] HL HL[accessedResource: DOID:8567][accessDate: 05-04-2011] HODGKIN DIS HODGKIN DIS[accessedResource: MSH:D006689][accessDate: 05-04-2011] HODGKINS DIS HODGKINS DIS[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin Disease[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin Granuloma Hodgkin Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin Lymphoma Hodgkin Lymphoma, Adult Hodgkin Lymphoma, Adult[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin disease Hodgkin lymphoma, no ICD-O subtype (morphologic abnormality) Hodgkin sarcoma [obs] Hodgkin's Disease Hodgkin's Disease[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin's Granuloma Hodgkin's Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin's Lymphoma stage III Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkin's Lymphomas Hodgkin's disease (disorder) Hodgkin's disease NOS Hodgkin's disease NOS (& [lymphogranuloma malignant]) Hodgkin's disease NOS (disorder) Hodgkin's disease NOS (morphologic abnormality) Hodgkin's disease NOS of intra-abdominal lymph nodes (disorder) Hodgkin's disease NOS of intrapelvic lymph nodes (disorder) Hodgkin's disease NOS of intrathoracic lymph nodes (disorder) Hodgkin's disease NOS of lymph nodes of axilla and upper limb (disorder) Hodgkin's disease NOS of lymph nodes of head, face and neck (disorder) Hodgkin's disease NOS of lymph nodes of inguinal region and lower limb (disorder) Hodgkin's disease NOS of lymph nodes of multiple sites (disorder) Hodgkin's disease NOS of spleen (disorder) Hodgkin's disease NOS, unspecified site (disorder) Hodgkin's disease of intra-abdominal lymph nodes (disorder) Hodgkin's disease of intrapelvic lymph nodes (disorder) Hodgkin's disease of intrathoracic lymph nodes (disorder) Hodgkin's disease of lymph nodes of axilla and/or upper limb (disorder) Hodgkin's disease of lymph nodes of head, face and/or neck (disorder) Hodgkin's disease of lymph nodes of inguinal region AND/OR lower limb (disorder) Hodgkin's disease of lymph nodes of multiple sites (disorder) Hodgkin's disease of spleen (disorder) Hodgkin's disease, unspecified type Hodgkin's disease, unspecified type, involving intra-abdominal lymph nodes Hodgkin's disease, unspecified type, involving intrapelvic lymph nodes Hodgkin's disease, unspecified type, involving intrathoracic lymph nodes Hodgkin's disease, unspecified type, involving lymph nodes of axilla and upper limb Hodgkin's disease, unspecified type, involving lymph nodes of head, face, and neck Hodgkin's disease, unspecified type, involving lymph nodes of inguinal region and lower limb Hodgkin's disease, unspecified type, involving lymph nodes of multiple sites Hodgkin's disease, unspecified type, involving spleen Hodgkin's disease, unspecified type, unspecified site, extranodal and solid organ sites Hodgkin's disease, unspecified type[accessedResource: ICD9:201.9][accessDate: 05-04-2011] Hodgkin's lymphoma Hodgkin's lymphoma NOS Hodgkin's sarcoma Hodgkin's sarcoma (disorder) Hodgkin's sarcoma NOS (disorder) Hodgkin's sarcoma of unspecified site (disorder) Hodgkin's sarcoma[accessedResource: ICD9:201.2][accessDate: 05-04-2011] Hodgkins Disease Hodgkins Disease[accessedResource: MSH:D006689][accessDate: 05-04-2011] Hodgkins Diseases Hodgkins Granuloma Hodgkins Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011] ICD9:201 ICD9:201.2 ICD9:201.9 James Malone Lymphocyte Depletion Hodgkin's Lymphoma Lymphocyte Depletion Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Lymphocyte Rich Classical Hodgkin's Lymphoma Lymphocyte Rich Classical Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Lymphocyte-Rich Classical Hodgkin's Lymphoma Lymphocyte-Rich Classical Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Lymphogranuloma, Malignant Lymphogranuloma, Malignant[accessedResource: MSH:D006689][accessDate: 05-04-2011] Lymphogranuloma, malignant (morphologic abnormality) Lymphogranulomas, Malignant Lymphogranulomas, Malignant[accessedResource: MSH:D006689][accessDate: 05-04-2011] Lymphoma, Hodgkin Lymphoma, Hodgkin's Lymphoma, Hodgkin's[accessedResource: MSH:D006689][accessDate: 05-04-2011] Lymphoma, Hodgkin[accessedResource: MSH:D006689][accessDate: 05-04-2011] MSH:D006689 Malignant Granuloma Malignant Granuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Malignant Granulomas Malignant Granulomas[accessedResource: MSH:D006689][accessDate: 05-04-2011] Malignant Lymphogranuloma Malignant Lymphogranuloma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Malignant Lymphogranulomas Malignant Lymphogranulomas[accessedResource: MSH:D006689][accessDate: 05-04-2011] Mixed Cellularity Hodgkin's Lymphoma Mixed Cellularity Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Nodular Lymphocyte Predominant Hodgkin's Lymphoma Nodular Lymphocyte Predominant Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Nodular Lymphocyte-Predominant Hodgkin's Lymphoma Nodular Lymphocyte-Predominant Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] Nodular Sclerosing Hodgkin's Lymphoma Nodular Sclerosing Hodgkin's Lymphoma[accessedResource: MSH:D006689][accessDate: 05-04-2011] OMIM:236000 Splenic Hodgkins Lymphoma Tomasz Adamusiak lymphogranulomatosis stage I Subdiaphragmatic Hodgkin Lymphoma stage I Subdiaphragmatic Hodgkin Lymphoma[accessedResource: DOID:8567][accessDate: 05-04-2011] stage II Subdiaphragmatic Hodgkin Lymphoma stage II Subdiaphragmatic Hodgkin Lymphoma[accessedResource: DOID:8567][accessDate: 05-04-2011] true obsolete_infiltrating ductal carcinoma Made obsolete: considered as synonym to invasive ductal carcinoma true obsolete_infiltrating lobular carcinoma Made obsolete: considered as synonym to invasive lobular carcinoma true invasive ductal carcinoma Infiltrating Ductal Adenocarcinoma Infiltrating Ductal Adenocarcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Infiltrating Ductal Breast Carcinoma Infiltrating Ductal Breast Carcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Infiltrating Ductal Carcinoma Infiltrating Ductal Carcinoma of Breast Infiltrating Ductal Carcinoma of Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Infiltrating Ductal Carcinoma of the Breast Infiltrating Ductal Carcinoma of the Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Infiltrating Ductal Carcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Adenocarcinoma Invasive Ductal Adenocarcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Breast Carcinoma Invasive Ductal Breast Carcinoma[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Carcinoma of Breast Invasive Ductal Carcinoma of Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Carcinoma of the Breast Invasive Ductal Carcinoma of the Breast[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Carcinoma, NOS Invasive Ductal Carcinoma, NOS[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Carcinoma, NST Invasive Ductal Carcinoma, NST[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Carcinoma, No Specific Type Invasive Ductal Carcinoma, No Specific Type[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Invasive Ductal Carcinoma, Not Otherwise Specified Invasive Ductal Carcinoma, Not Otherwise Specified[accessedResource: NCIt:C4194][accessDate: 05-04-2011] James Malone NCIt:C4194 The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both. The most common type of invasive breast carcinoma, accounting for approximately 70% of breast carcinomas. The gross appearance is usually typical with an irregular stellate outline. Microscopically, randomly arranged epithelial elements are seen. When large sheets of malignant cells are present, necrosis may be seen. With adequate tissue sampling, in situ carcinoma can be demonstrated in association with the infiltrating carcinoma. The in situ component is nearly always ductal but occasionally may be lobular or both.[accessedResource: NCIt:C4194][accessDate: 05-04-2011] Tomasz Adamusiak Kaposi's sarcoma cell A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).[accessedResource: NCIt:C9087][accessDate: 05-04-2011] A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur. A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur.[accessedResource: BTO:0002071][accessDate: 05-04-2011] BTO:0002071 James Malone KS[accessedResource: NCIt:C9087][accessDate: 05-04-2011] Kaposi - Kaposi's Sarcoma Kaposi - Kaposi's Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011] Kaposi Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011] Kaposi's Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011] Multiple Hemorrhagic Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011] NCIt:C9087 OMIM:148000 Tomasz Adamusiak idiopathic multiple pigmented hemorrhagic sarcoma cell multiple hemorrhagic sarcoma cell multiple hemorrhagic sarcoma cell of Kaposi multiple idiopathic hemorrhagic sarcoma cell obsolete_liver carcinoma 2.5 James Malone duplicate of EFO_0000182 true obsolete_liver heptocellular carcinoma 2.5 James Malone duplicate of EFO_0000182 true obsolete_lymphoblastic leukemia MOLT-4 1.9 James Malone duplicate of EFO_0001220 true MALT lymphoma James Malone obsolete_MELAS syndrome A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117) A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)[accessedResource: MSH:D017241][accessDate: 05-04-2011] DOID:3687 GeneRIF:15466014 James Malone MELAS MELAS[accessedResource: MSH:D017241][accessDate: 05-04-2011] MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES[accessedResource: DOID:3687][accessDate: 05-04-2011] MSH:D017241 Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode[accessedResource: MSH:D017241][accessDate: 05-04-2011] OMIM:540000 Syndrome, MELAS Syndrome, MELAS[accessedResource: MSH:D017241][accessDate: 05-04-2011] Tomasz Adamusiak true use 'http://www.orphanet.org/rdfns#pat_id_63' instead. New Label : MELAS syndrome 2.32 obsolete_MMHCC part A program to develop and refine experimental models that reflect the etiology and progression of human cancer. An MMHCC (Mouse Models of Human Cancers Consortium) part is an organism part that has been modelled by the MMHCC, a program to develop and refine experimental models that reflect the etiology and progression of human cancer. James Malone NCIt:C19750 Obsolete: No longer required in EFO true obsolete_malignant peripheral nerve sheath tumor class An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1). DOID:5940 GeneRIF:11642720 GeneRIF:12152785 GeneRIF:12660952 GeneRIF:12730955 GeneRIF:12782393 GeneRIF:12917360 GeneRIF:14519636 GeneRIF:14991838 MSH:D018317 NCIt:C3798 Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category. SNOMEDCT:19897006 SNOMEDCT:404037002 true metabolic syndrome A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556) A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)[accessedResource: MSH:D024821][accessDate: 05-04-2011] Cardiovascular Syndrome, Metabolic Cardiovascular Syndrome, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011] Cardiovascular Syndromes, Metabolic Cardiovascular Syndromes, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011] Dysmetabolic Syndrome X Dysmetabolic Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011] Insulin Resistance Syndrome X Insulin Resistance Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011] James Malone MSH:D024821 Metabolic Cardiovascular Syndrome Metabolic Cardiovascular Syndrome[accessedResource: MSH:D024821][accessDate: 05-04-2011] Metabolic Syndrome X Metabolic Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011] Metabolic X Syndrome Metabolic X Syndrome[accessedResource: MSH:D024821][accessDate: 05-04-2011] OMIM:605552 Reaven Syndrome X Reaven Syndrome X[accessedResource: MSH:D024821][accessDate: 05-04-2011] Syndrome X, Dysmetabolic Syndrome X, Dysmetabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011] Syndrome X, Insulin Resistance Syndrome X, Insulin Resistance[accessedResource: MSH:D024821][accessDate: 05-04-2011] Syndrome X, Metabolic Syndrome X, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011] Syndrome X, Reaven Syndrome X, Reaven[accessedResource: MSH:D024821][accessDate: 05-04-2011] Syndrome, Metabolic Cardiovascular Syndrome, Metabolic Cardiovascular[accessedResource: MSH:D024821][accessDate: 05-04-2011] Syndrome, Metabolic X Syndrome, Metabolic X[accessedResource: MSH:D024821][accessDate: 05-04-2011] Tomasz Adamusiak X Syndrome, Metabolic X Syndrome, Metabolic[accessedResource: MSH:D024821][accessDate: 05-04-2011] true metastatic prostate cancer James Malone mucinous carcinoma James Malone myelodysplastic syndrome A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001) A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Dysmyelopoietic Syndrome Dysmyelopoietic Syndrome[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Helen Parkinson Hematopoeitic - Myelodysplastic Syndrome (MDS) Hematopoeitic - Myelodysplastic Syndrome (MDS)[accessedResource: NCIt: C3247][accessDate: 05-04-2011] MDS MDS[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Myelodysplasia Myelodysplasia[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Myelodysplastic Neoplasm Myelodysplastic Neoplasm[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Myelodysplastic Syndrome/Neoplasm Myelodysplastic Syndrome/Neoplasm[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Myelodysplastic Syndromes Myelodysplastic Syndromes[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Myelodysplastic syndromes are a class of syndromes which involve ineffective production (or dysplasia) of the myeloid class of blood cells. NCIt: C3247 Oligoblastic Leukemia Oligoblastic Leukemia[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Preleukemia Preleukemia[accessedResource: NCIt: C3247][accessDate: 05-04-2011] Smoldering Leukemia Smoldering Leukemia[accessedResource: NCIt: C3247][accessDate: 05-04-2011] oral squamous cell carcinoma James Malone plasma cell neoplasm James Malone obsolete_precursor T lymphoblastic leukemia 1.5 James Malone obsolete - duplication with T cell acute lymphoblastic leukemia EFO_0000209 use this instead true obsolete_promyelocytic leukemia 1.5 Duplication with acute promyelocytic leukemia (EFO_0000224) James Malone true monoclonal gammopathy A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases. A plasma cell disorder in which an abnormal amount of a single immunoglobulin is present in the serum. Up to 25% of cases of monoclonal gammopathy of undetermined significance (MGUS) progress to a B-cell malignancy or myeloma. MGUS may occur in conjunction with various carcinomas, chronic inflammatory and infectious conditions, and other diseases.[accessedResource: NCIt:C3996][accessDate: 05-04-2011] Benign Monoclonal Gammopathy Benign Monoclonal Gammopathy[accessedResource: NCIt:C3996][accessDate: 05-04-2011] DOID:7442 GeneRIF:14677065 James Malone MGUS MGUS - Monoclonal gammopathy of uncertain significance MGUS - Monoclonal gammopathy of uncertain significance[accessedResource: SNOMEDCT:277577000][accessDate: 05-04-2011] MGUS[accessedResource: DOID:7442][accessDate: 05-04-2011] Monoclonal Gammopathy Of Undetermined Significance (MGUS) Monoclonal Gammopathy Of Undetermined Significance (MGUS)[accessedResource: NCIt:C3996][accessDate: 05-04-2011] Monoclonal Gammopathy of Unknown Significance Monoclonal Gammopathy of Unknown Significance[accessedResource: NCIt:C3996][accessDate: 05-04-2011] Monoclonal gammopathy of uncertain significance Monoclonal gammopathy of uncertain significance (disorder) Monoclonal gammopathy of uncertain significance (disorder)[accessedResource: SNOMEDCT:277577000][accessDate: 05-04-2011] Monoclonal gammopathy of undetermined significance Monoclonal gammopathy of undetermined significance (morphologic abnormality) Monoclonal gammopathy of undetermined significance (morphologic abnormality)[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011] Monoclonal gammopathy of undetermined significance[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011] NCIt:C3996 Paraproteinaemia Paraproteinaemia[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011] Paraproteinemia Paraproteinemia[accessedResource: SNOMEDCT:35601003][accessDate: 05-04-2011] SNOMEDCT:277577000 SNOMEDCT:35601003 monoclonal gammopathy of uncertain significance[accessedResource: DOID:7442][accessDate: 05-04-2011] obsolete_Scott syndrome OMIM:262890 SNOMEDCT:128098009 Scott syndrome (disorder) Scott syndrome (disorder)[accessedResource: SNOMEDCT:128098009][accessDate: 05-04-2011] Tomasz Adamusiak Scott syndrome is a rare congenital bleeding disorder that is due to a defect in a platelet mechanism required for blood coagulation. use 'http://www.orphanet.org/rdfns#pat_id_7521' instead. New Label : Scott syndrome http://en.wikipedia.org/wiki/Scott_syndrome true 2.32 stage I endometrioid carcinoma James Malone stage II endometrioid carcinoma James Malone obsolete_T-cell lymphoblastic lymphoma 1.8 James Malone duplicate of T-cell lymphoblastic lymphoma EFO_0000209 true T-cell acute lymphoblastic leukemia ATLL ATLL[accessedResource: MSH:D015459][accessDate: 05-04-2011] Acute T Cell Lymphoblastic Leukemia Acute T Cell Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] Acute T Cell Lymphocytic Leukemia Acute T Cell Lymphocytic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] Acute T-Cell Leukemia Acute T-Cell Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] Acute T-Cell Lymphoblastic Leukemia Acute T-Cell Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] Acute T-Cell Lymphocytic Leukemia Acute T-Cell Lymphocytic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)[accessedResource: NCIt:C3183][accessDate: 05-04-2011] Adult T-Cell Leukemia Adult T-Cell Leukemia-Lymphoma Adult T-Cell Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] Adult T-Cell Leukemia-Lymphomas Adult T-Cell Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011] Adult T-Cell Leukemia[accessedResource: MSH:D015459][accessDate: 05-04-2011] Adult T-Cell Leukemias Adult T-Cell Leukemias[accessedResource: MSH:D015459][accessDate: 05-04-2011] Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa. Aggressive T-Cell malignancy with adult onset, caused by HUMAN T-LYMPHOTROPIC VIRUS 1. It is endemic in Japan, the Caribbean basin, Southeastern United States, Hawaii, and parts of Central and South America and sub-Saharan Africa.[accessedResource: MSH:D015459][accessDate: 05-04-2011] DOID:5603 GeneRIF:11937265 GeneRIF:12970786 GeneRIF:15472075 GeneRIF:15827121 GeneRIF:15990867 GeneRIF:16079893 GeneRIF:16287841 GeneRIF:16326981 HTLV ALL HTLV ALL[accessedResource: MSH:D015459][accessDate: 05-04-2011] HTLV Associated Leukemia Lymphoma HTLV Associated Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] HTLV I Associated T Cell Leukemia Lymphoma HTLV I Associated T Cell Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] HTLV-Associated Leukemia-Lymphoma HTLV-Associated Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] HTLV-Associated Leukemia-Lymphomas HTLV-Associated Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011] HTLV-I-Associated T-Cell Leukemia-Lymphoma HTLV-I-Associated T-Cell Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] HTLV-I-Associated T-Cell Leukemia-Lymphomas HTLV-I-Associated T-Cell Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011] Human T Cell Leukemia Lymphoma Human T Cell Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] Human T Lymphotropic Virus Associated Leukemia Lymphoma Human T Lymphotropic Virus Associated Leukemia Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] Human T Lymphotropic Virus-Associated Leukemia-Lymphoma Human T Lymphotropic Virus-Associated Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] Human T-Cell Leukemia-Lymphoma Human T-Cell Leukemia-Lymphoma[accessedResource: MSH:D015459][accessDate: 05-04-2011] Human T-Cell Leukemia-Lymphomas Human T-Cell Leukemia-Lymphomas[accessedResource: MSH:D015459][accessDate: 05-04-2011] James Malone Leukemia Lymphoma, Adult T Cell Leukemia Lymphoma, Adult T Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia Lymphoma, T Cell, Acute, HTLV I Associated Leukemia Lymphoma, T Cell, Acute, HTLV I Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia, Adult T Cell Leukemia, Adult T Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia, Adult T-Cell Leukemia, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphoma, Adult T-Cell Leukemia-Lymphoma, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphoma, HTLV-Associated Leukemia-Lymphoma, HTLV-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphoma, HTLV-I-Associated T-Cell Leukemia-Lymphoma, HTLV-I-Associated T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphoma, Human T-Cell Leukemia-Lymphoma, Human T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated Leukemia-Lymphoma, T-Cell, Acute, HTLV-I-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphomas, Adult T-Cell Leukemia-Lymphomas, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphomas, HTLV-Associated Leukemia-Lymphomas, HTLV-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphomas, HTLV-I-Associated T-Cell Leukemia-Lymphomas, HTLV-I-Associated T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemia-Lymphomas, Human T-Cell Leukemia-Lymphomas, Human T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] Leukemias, Adult T-Cell Leukemias, Adult T-Cell[accessedResource: MSH:D015459][accessDate: 05-04-2011] MSH:D015459 NCIt:C3183 OMIM:186770 Precursor T Lymphoblastic Leukemia Precursor T Lymphoblastic Leukemia[accessedResource: DOID:5603][accessDate: 05-04-2011] Precursor T-Lymphoblastic Leukemia Precursor T-Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] Precursor T-cell lymphoblastic leukaemia Precursor T-cell lymphoblastic leukaemia[accessedResource: SNOMEDCT:277575008][accessDate: 05-04-2011] Precursor T-cell lymphoblastic leukemia Precursor T-cell lymphoblastic leukemia[accessedResource: SNOMEDCT:277575008][accessDate: 05-04-2011] SNOMEDCT:277575008 T Acute Lymphoblastic Leukemia T Acute Lymphoblastic Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] T Cell Leukemia Lymphoma, Adult T Cell Leukemia Lymphoma, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011] T Cell Leukemia Lymphoma, HTLV I Associated T Cell Leukemia Lymphoma, HTLV I Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011] T Cell Leukemia, Adult T Cell Leukemia, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-ALL T-ALL[accessedResource: NCIt:C3183][accessDate: 05-04-2011] T-Cell Leukemia, Adult T-Cell Leukemia, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Leukemia-Lymphoma, Adult T-Cell Leukemia-Lymphoma, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Leukemia-Lymphoma, HTLV-I-Associated T-Cell Leukemia-Lymphoma, HTLV-I-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Leukemia-Lymphoma, Human T-Cell Leukemia-Lymphoma, Human[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Leukemia-Lymphomas, Adult T-Cell Leukemia-Lymphomas, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Leukemia-Lymphomas, HTLV-I-Associated T-Cell Leukemia-Lymphomas, HTLV-I-Associated[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Leukemia-Lymphomas, Human T-Cell Leukemia-Lymphomas, Human[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Leukemias, Adult T-Cell Leukemias, Adult[accessedResource: MSH:D015459][accessDate: 05-04-2011] T-Cell Type Acute Leukemia T-Cell Type Acute Leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] T-cell acute lymphoblastic leukaemia T-cell acute lymphoblastic leukaemia[accessedResource: SNOMEDCT:277575008][accessDate: 05-04-2011] T-cell acute lymphoblastic leukemia (disorder) T-cell acute lymphoblastic leukemia (disorder)[accessedResource: DOID:5603][accessDate: 05-04-2011] T-cell acute lymphocytic leukemia T-cell acute lymphocytic leukemia[accessedResource: NCIt:C3183][accessDate: 05-04-2011] This type of acute lymphoblastic leukemia comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001) Tomasz Adamusiak acute T cell leukemia acute T cell leukemia[accessedResource: DOID:5603][accessDate: 05-04-2011] obsolete_T lymphocyte 1.7 A cell of the B cell, T cell, or natural killer cell lineage. CL:0000542 Duplicate: use EFO_0000208 James Malone true unspecified peripheral T-cell lymphoma James Malone obsolete_Wilms tumor A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.[accessedResource: MSH:D009396][accessDate: 05-04-2011] A malignant mixed tumor that affects the kidneys and typically located_in children. A malignant mixed tumor that affects the kidneys and typically located_in children.[accessedResource: DOID:2154][accessDate: 05-04-2011] A malignant mixed tumor that affects the kidneys and typically occurs in children. Bilateral Wilms Tumor Bilateral Wilms Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] DOID:2154 MSH:D009396 Nephroblastoma Nephroblastoma (disorder) Nephroblastoma (morphologic abnormality) Nephroblastoma NOS Nephroblastoma[accessedResource: MSH:D009396][accessDate: 05-04-2011] Nephroblastomas Nephroblastomas[accessedResource: MSH:D009396][accessDate: 05-04-2011] OMIM:194070 Tomasz Adamusiak Tumor, Bilateral Wilms Tumor, Bilateral Wilms[accessedResource: MSH:D009396][accessDate: 05-04-2011] Tumor, Wilms Tumor, Wilms' Tumor, Wilms'[accessedResource: MSH:D009396][accessDate: 05-04-2011] Tumor, Wilms[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilm Tumor Wilm Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilm's Tumor Wilm's Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilms Tumor, Bilateral Wilms Tumor, Bilateral[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilms' Tumor Wilms' Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] duplicate of class http://www.orphanet.org/rdfns#pat_id_852 renal Wilms tumor renal Wilms tumor[accessedResource: DOID:2154][accessDate: 05-04-2011] true 2.33 true obsolete_abdominal cavity 2.38 Abdomen Abdomen[accessedResource: NCIt:C12664][accessDate: 05-04-2011] James Malone NCIt:C12664 The portion of the body that lies between the thorax and the pelvis. The portion of the body that lies between the thorax and the pelvis.[accessedResource: NCIt:C12664][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0003684 label: abdominal cavity true abdominal skin Abdomen Skin Abdomen Skin[accessedResource: NCIt:C52758][accessDate: 05-04-2011] James Malone NCIt:C52758 The skin or integument surrounding the abdomen. The skin or integument surrounding the abdomen.[accessedResource: NCIt:C52758][accessDate: 05-04-2011] acinar cell carcinoma A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. Representative examples include the acinar cell carcinoma of the pancreas and the acinar adenocarcinoma of the prostate gland. A malignant glandular epithelial neoplasm consisting of secretory cells forming acinar patterns. Representative examples include the acinar cell carcinoma of the pancreas and the acinar adenocarcinoma of the prostate gland.[accessedResource: NCIt:C3768][accessDate: 05-04-2011] A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575) A malignant tumor arising from secreting cells of a racemose gland, particularly the salivary glands. Racemose (Latin racemosus, full of clusters) refers, as does acinar (Latin acinus, grape), to small saclike dilatations in various glands. Acinar cell carcinomas are usually well differentiated and account for about 13% of the cancers arising in the parotid gland. Lymph node metastasis occurs in about 16% of cases. Local recurrences and distant metastases many years after treatment are common. This tumor appears in all age groups and is most common in women. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1240; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)[accessedResource: MSH:D018267][accessDate: 05-04-2011] Acinar Carcinoma Acinar Carcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011] Acinar Carcinomas Acinar Carcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011] Acinar Cell Adenocarcinoma Acinar Cell Adenocarcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011] Acinar Cell Adenocarcinomas Acinar Cell Adenocarcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011] Acinar Cell Carcinomas Acinar Cell Carcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011] Acinar adenocarcinoma Acinar adenocarcinoma[accessedResource: SNOMEDCT:45410002][accessDate: 05-04-2011] Acinic Cell Adenocarcinoma Acinic Cell Adenocarcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011] Acinic Cell Adenocarcinomas Acinic Cell Adenocarcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011] Acinic Cell Carcinoma Acinic Cell Carcinoma[accessedResource: NCIt:C3768][accessDate: 05-04-2011] Acinic Cell Carcinomas Acinic Cell Carcinomas[accessedResource: MSH:D018267][accessDate: 05-04-2011] Acinic Cell Tumor Acinic Cell Tumor[accessedResource: MSH:D018267][accessDate: 05-04-2011] Acinic Cell Tumors Acinic Cell Tumors[accessedResource: MSH:D018267][accessDate: 05-04-2011] Adenocarcinoma, Acinar Cell Adenocarcinoma, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Adenocarcinoma, Acinic Cell Adenocarcinoma, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Adenocarcinomas, Acinar Cell Adenocarcinomas, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Adenocarcinomas, Acinic Cell Adenocarcinomas, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Carcinoma, Acinar Carcinoma, Acinar Cell Carcinoma, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Carcinoma, Acinar[accessedResource: MSH:D018267][accessDate: 05-04-2011] Carcinoma, Acinic Cell Carcinoma, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Carcinomas, Acinar Carcinomas, Acinar Cell Carcinomas, Acinar Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Carcinomas, Acinar[accessedResource: MSH:D018267][accessDate: 05-04-2011] Carcinomas, Acinic Cell Carcinomas, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] DOID:3025 GeneRIF:11891193 James Malone MSH:D018267 NCIt:C3768 SNOMEDCT:45410002 Serous Acinar Adenoma Serous Acinar Adenoma[accessedResource: MSH:D018267][accessDate: 05-04-2011] Tumor, Acinic Cell Tumor, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] Tumors, Acinic Cell Tumors, Acinic Cell[accessedResource: MSH:D018267][accessDate: 05-04-2011] acinar cell carcinoma (morphologic abnormality) acinar cell carcinoma (morphologic abnormality)[accessedResource: DOID:3025][accessDate: 05-04-2011] active gastritis A stomach disease that is an inflammation of the lining of the stomach. A stomach disease that is an inflammation of the lining of the stomach.[accessedResource: DOID:4029][accessDate: 05-04-2011] DOID:4029 Erosive Gastritis Erosive Gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011] Erosive gastropathy (disorder) Erosive gastropathy (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] GASTRITIS HEMORRHAGIC GASTRITIS HEMORRHAGIC[accessedResource: DOID:4029][accessDate: 05-04-2011] Gastric catarrh Gastric catarrh[accessedResource: SNOMEDCT:4556007][accessDate: 05-04-2011] Gastritides Gastritides[accessedResource: MSH:D005756][accessDate: 05-04-2011] Gastritis Gastritis (disorder) Gastritis (disorder)[accessedResource: SNOMEDCT:4556007][accessDate: 05-04-2011] Gastritis [Ambiguous] Gastritis [Ambiguous][accessedResource: DOID:4029][accessDate: 05-04-2011] Gastritis unspecified Gastritis unspecified (disorder) Gastritis unspecified (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] Gastritis unspecified[accessedResource: SNOMEDCT:196743006][accessDate: 05-04-2011] Gastritis, NOS Gastritis, NOS[accessedResource: SNOMEDCT:4556007][accessDate: 05-04-2011] GeneRIF:11908710 GeneRIF:12011009 GeneRIF:12390304 GeneRIF:12488564 GeneRIF:12519893 GeneRIF:12671895 GeneRIF:12958020 GeneRIF:14536000 GeneRIF:14669317 GeneRIF:15216464 GeneRIF:15287151 GeneRIF:15351034 GeneRIF:15383700 GeneRIF:15720413 GeneRIF:16201065 GeneRIF:16275761 GeneRIF:16302981 Hemorrhagic Gastritis Hemorrhagic Gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011] Idiopathic erosive/hemorrhagic gastritis (disorder) Idiopathic erosive/hemorrhagic gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders. Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.[accessedResource: MSH:D005756][accessDate: 05-04-2011] Inflammation of the stomach. Inflammation of the stomach.[accessedResource: NCIt:C26780][accessDate: 05-04-2011] James Malone MSH:D005756 NCIt:C26780 Other specified gastritis Other specified gastritis (disorder) Other specified gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] Other specified gastritis NOS (disorder) Other specified gastritis NOS (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] Other specified gastritis, with hemorrhage Other specified gastritis, with hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011] Other specified gastritis, without mention of hemorrhage Other specified gastritis, without mention of hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011] Other specified gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011] SNOMEDCT:196743006 SNOMEDCT:4556007 acute gastric mucosal erosion (disorder) acute gastric mucosal erosion (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] acute gastritis acute gastritis (disorder) acute gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] acute gastritis with hemorrhage acute gastritis with hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011] acute gastritis without mention of hemorrhage acute gastritis without mention of hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011] acute gastritis, with hemorrhage acute gastritis, with hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011] acute gastritis, without mention of hemorrhage acute gastritis, without mention of hemorrhage[accessedResource: DOID:4029][accessDate: 05-04-2011] acute gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011] acute haemorrhagic gastritis acute haemorrhagic gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011] acute hemorrhagic gastritis (disorder) acute hemorrhagic gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] acute hemorrhagic gastritis [dup] (disorder) acute hemorrhagic gastritis [dup] (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] chronic Gastritis chronic gastritis (disorder) chronic gastritis (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] chronic gastritis NOS (disorder) chronic gastritis NOS (disorder)[accessedResource: DOID:4029][accessDate: 05-04-2011] chronic gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011] gastritis[accessedResource: DOID:4029][accessDate: 05-04-2011] acute erythroleukemia AC ERTH/ERLK WO ACH RMSN AC ERTH/ERLK WO ACH RMSN[accessedResource: ICD9:207.00][accessDate: 05-04-2011] ACT ERTH/ERYLK W/O RMSON Acute erythremia and erythroleukemia without mention of having achieved remission Acute erythremia and erythroleukemia without mention of having achieved remission[accessedResource: ICD9:207.00][accessDate: 05-04-2011] Acute erythremia and erythroleukemia without mention of remission DOID:1239 ICD9:207.0 ICD9:207.00 James Malone OMIM:133180 Tomasz Adamusiak acute erythremia and erythroleukemia acute erythremia and erythroleukemia[accessedResource: DOID:1239][accessDate: 05-04-2011] acute erythroid leukemia obsolete_acute lymphoblastic leukemia 1.5 A neoplasm of immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage. Neoplasms involving the bone marrow and the peripheral blood are called precursor lymphoblastic leukemias or acute lymphoblastic leukemias. Neoplasms involving primarily lymph nodes or extranodal sites are called lymphoblastic lymphomas. -- 2003 DOID:5600 Duplicate with acute lymphocytic leukemia (EFO_0000220) James Malone NCIt:C7055 true acute lymphoblastic leukemia A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia. A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.[accessedResource: MSH:D015452][accessDate: 05-04-2011] A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias. A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.[accessedResource: MSH:D054198][accessDate: 05-04-2011] AC LYM LEUK WO ACHV RMSN AC LYM LEUK WO ACHV RMSN[accessedResource: ICD9:204.00][accessDate: 05-04-2011] ACT LYM LEUK W/O RMSION ALL ALL - Acute Lymphocytic Leukemia ALL - Acute Lymphocytic Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011] ALL - Acute lymphoblastic leukaemia ALL - Acute lymphoblastic leukaemia[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011] ALL - Acute lymphoblastic leukemia ALL - Acute lymphoblastic leukemia[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011] ALL, Childhood ALL, Childhood[accessedResource: MSH:D054198][accessDate: 05-04-2011] ALL[accessedResource: NCIt:C3167][accessDate: 05-04-2011] Acute Lymphocytic Leukaemia Acute Lymphocytic Leukaemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011] Acute Lymphocytic Leukemia Acute Lymphocytic Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011] Acute Lymphocytic Leukemias Acute Lymphocytic Leukemias[accessedResource: NCIt:C3167][accessDate: 05-04-2011] Acute Lymphogenous Leukemia Acute Lymphogenous Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011] Acute Lymphoid Leukemia[accessedResource: MSH:D054198][accessDate: 05-04-2011] Acute lymphatic leukaemia Acute lymphatic leukaemia, L2 type Acute lymphatic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphatic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphatic leukemia Acute lymphatic leukemia, L2 type Acute lymphatic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphatic leukemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoblastic leukaemia Acute lymphoblastic leukaemia, L2 type Acute lymphoblastic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoblastic leukaemia, precursor-cell type Acute lymphoblastic leukaemia, precursor-cell type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoblastic leukaemia-lymphoma Acute lymphoblastic leukaemia-lymphoma[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoblastic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoblastic leukemia, L2 type Acute lymphoblastic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoblastic leukemia, precursor-cell type Acute lymphoblastic leukemia, precursor-cell type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoblastic leukemia-lymphoma Acute lymphoblastic leukemia-lymphoma[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphocytic leukaemia, L2 type Acute lymphocytic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphocytic leukemia, L2 type Acute lymphocytic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoid leukaemia Acute lymphoid leukaemia, L2 type Acute lymphoid leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoid leukaemia, disease Acute lymphoid leukaemia, disease[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011] Acute lymphoid leukaemia[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011] Acute lymphoid leukemia Acute lymphoid leukemia without mention of having achieved remission Acute lymphoid leukemia without mention of having achieved remission[accessedResource: ICD9:204.00][accessDate: 05-04-2011] Acute lymphoid leukemia without mention of remission Acute lymphoid leukemia without mention of remission[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011] Acute lymphoid leukemia, L2 type Acute lymphoid leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Acute lymphoid leukemia, disease Acute lymphoid leukemia, disease (disorder) Acute lymphoid leukemia, disease (disorder)[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011] Acute lymphoid leukemia, disease[accessedResource: SNOMEDCT:91857003][accessDate: 05-04-2011] Childhood ALL Childhood ALL[accessedResource: MSH:D054198][accessDate: 05-04-2011] DOID:9952 FAB L2 FAB L2[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] GeneRIF:11855781 GeneRIF:11964305 GeneRIF:12008081 GeneRIF:12065898 GeneRIF:12091359 GeneRIF:12133444 GeneRIF:12142782 GeneRIF:12163057 GeneRIF:12203795 GeneRIF:12408765 GeneRIF:12412576 GeneRIF:12532332 GeneRIF:12854903 GeneRIF:12879482 GeneRIF:12958073 GeneRIF:14562113 GeneRIF:14580777 GeneRIF:14613996 GeneRIF:14706337 GeneRIF:14751048 GeneRIF:14762685 GeneRIF:14959847 GeneRIF:15001471 GeneRIF:15297414 GeneRIF:15353558 GeneRIF:15390181 GeneRIF:15604885 GeneRIF:15613101 GeneRIF:15618957 GeneRIF:15717687 GeneRIF:15878620 GeneRIF:16012335 GeneRIF:16138344 ICD9:204.0 ICD9:204.00 James Malone L1 Lymphocytic Leukemia L1 Lymphocytic Leukemia[accessedResource: MSH:D054198][accessDate: 05-04-2011] L2 Lymphocytic Leukemia L2 Lymphocytic Leukemia[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia. Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.[accessedResource: NCIt:C3167][accessDate: 05-04-2011] Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia. Leukemia, Acute Lymphoblastic Leukemia, Acute Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Acute Lymphocytic Leukemia, Acute Lymphocytic[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Acute Lymphoid Leukemia, Acute Lymphoid[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, L1 Lymphocytic Leukemia, L1 Lymphocytic[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, L2 Lymphocytic Leukemia, L2 Lymphocytic[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphoblastic Leukemia, Lymphoblastic, Acute Leukemia, Lymphoblastic, Acute, L1 Leukemia, Lymphoblastic, Acute, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphoblastic, Acute, L2 Leukemia, Lymphoblastic, Acute, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphoblastic, Acute, Philadelphia-Positive Leukemia, Lymphoblastic, Acute, Philadelphia-Positive[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphoblastic, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphocytic, Acute Leukemia, Lymphocytic, Acute, L1 Leukemia, Lymphocytic, Acute, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphocytic, Acute, L2 Leukemia, Lymphocytic, Acute, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphocytic, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Lymphoid, Acute Leukemia, Lymphoid, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011] Leukemia, Pre B Cell Leukemia, Pre B Cell[accessedResource: MSH:D015452][accessDate: 05-04-2011] Leukemia, Pre-B-Cell Leukemia, Pre-B-Cell[accessedResource: MSH:D015452][accessDate: 05-04-2011] Leukemias, Pre-B-Cell Leukemias, Pre-B-Cell[accessedResource: MSH:D015452][accessDate: 05-04-2011] Lymphoblastic Leukemia, Acute Lymphoblastic Leukemia, Acute, Adult Lymphoblastic Leukemia, Acute, Adult[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphoblastic Leukemia, Acute, Childhood Lymphoblastic Leukemia, Acute, Childhood[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphoblastic Leukemia, Acute, L1 Lymphoblastic Leukemia, Acute, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphoblastic Leukemia, Acute, L2 Lymphoblastic Leukemia, Acute, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphoblastic Leukemia, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphoblastic Lymphoma[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphoblastic leukaemia, L2 type Lymphoblastic leukaemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Lymphoblastic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Lymphoblastic leukemia, L2 type Lymphoblastic leukemia, L2 type[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Lymphoblastic leukemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Lymphocytic Leukemia, Acute Lymphocytic Leukemia, Acute[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphocytic Leukemia, L1 Lymphocytic Leukemia, L1[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphocytic Leukemia, L2 Lymphocytic Leukemia, L2[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphoid Leukemia, Acute Lymphoid leukemia, acute[accessedResource: ICD9:204.0][accessDate: 05-04-2011] Lymphoma, Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011] Lymphomas, Lymphoblastic[accessedResource: MSH:D054198][accessDate: 05-04-2011] MSH:D015452 MSH:D054198 NCIt:C3167 Pre B ALL Pre B ALL[accessedResource: MSH:D015452][accessDate: 05-04-2011] Pre B Cell Leukemia Pre B Cell Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011] Pre B-ALL Pre B-ALL[accessedResource: MSH:D015452][accessDate: 05-04-2011] Pre-B ALL Pre-B ALL[accessedResource: MSH:D015452][accessDate: 05-04-2011] Pre-B-Cell Leukemia Pre-B-Cell Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011] Pre-B-Cell Leukemias Pre-B-Cell Leukemias[accessedResource: MSH:D015452][accessDate: 05-04-2011] Precursor B Cell Lymphoblastic Leukemia Precursor B Cell Lymphoblastic Leukemia Lymphoma Precursor B Cell Lymphoblastic Leukemia Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011] Precursor B Cell Lymphoblastic Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011] Precursor B Cell Lymphoblastic Lymphoma Precursor B Cell Lymphoblastic Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011] Precursor B-Cell Lymphoblastic Leukemia Precursor B-Cell Lymphoblastic Leukemia-Lymphoma Precursor B-Cell Lymphoblastic Leukemia-Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011] Precursor B-Cell Lymphoblastic Leukemia[accessedResource: MSH:D015452][accessDate: 05-04-2011] Precursor B-Cell Lymphoblastic Lymphoma Precursor B-Cell Lymphoblastic Lymphoma[accessedResource: MSH:D015452][accessDate: 05-04-2011] Precursor Cell Lymphoblastic Leukemia Lymphoma Precursor Cell Lymphoblastic Leukemia Lymphoma[accessedResource: MSH:D054198][accessDate: 05-04-2011] Precursor Cell Lymphoblastic Leukemia-Lymphoma Precursor Cell Lymphoblastic Leukemia-Lymphoma[accessedResource: MSH:D054198][accessDate: 05-04-2011] Precursor Lymphoblastic Leukemia Precursor Lymphoblastic Leukemia[accessedResource: NCIt:C3167][accessDate: 05-04-2011] Precursor cell lymphoblastic leukaemia Precursor cell lymphoblastic leukaemia, not phenotyped Precursor cell lymphoblastic leukaemia, not phenotyped[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Precursor cell lymphoblastic leukaemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Precursor cell lymphoblastic leukemia Precursor cell lymphoblastic leukemia (morphologic abnormality) Precursor cell lymphoblastic leukemia (morphologic abnormality)[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Precursor cell lymphoblastic leukemia, no ICD-O subtype (morphologic abnormality) Precursor cell lymphoblastic leukemia, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Precursor cell lymphoblastic leukemia, not phenotyped Precursor cell lymphoblastic leukemia, not phenotyped[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] Precursor cell lymphoblastic leukemia[accessedResource: SNOMEDCT:128822004][accessDate: 05-04-2011] SNOMEDCT:128822004 SNOMEDCT:190034000 SNOMEDCT:91857003 Tomasz Adamusiak When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term. When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.[accessedResource: MSH:D054198][accessDate: 05-04-2011] [M]Acute lymphoid leukaemia [M]Acute lymphoid leukaemia[accessedResource: SNOMEDCT:190034000][accessDate: 05-04-2011] [M]Acute lymphoid leukemia [M]Acute lymphoid leukemia (morphologic abnormality) [M]Acute lymphoid leukemia (morphologic abnormality)[accessedResource: SNOMEDCT:190034000][accessDate: 05-04-2011] [M]Acute lymphoid leukemia[accessedResource: SNOMEDCT:190034000][accessDate: 05-04-2011] true true acute monocytic leukemia Acute Monoblastic Leukemias Acute Monoblastic Leukemias[accessedResource: MSH:D007948][accessDate: 05-04-2011] Acute Monocytic Leukemias Acute Monocytic Leukemias[accessedResource: MSH:D007948][accessDate: 05-04-2011] An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES. An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES.[accessedResource: MSH:D007948][accessDate: 05-04-2011] DOID:8864 GeneRIF:12547160 GeneRIF:15145445 ICD9:206.0 James Malone LEUKEMIA MYELOID ACUTE M 05 LEUKEMIA MYELOID ACUTE M 05[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Acute Monoblastic Leukemia, Acute Monoblastic[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Acute Monocytic Leukemia, Acute Monocytic[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Monoblastic, Acute Leukemia, Monoblastic, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Monocytic, Acute Leukemia, Monocytic, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Myeloid, Acute, M5 Leukemia, Myeloid, Acute, M5[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Myeloid, Schilling Type Leukemia, Myeloid, Schilling Type[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Myeloid, Schilling-Type Leukemia, Myeloid, Schilling-Type[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemia, Schilling-Type Myeloid Leukemia, Schilling-Type Myeloid[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemias, Acute Monoblastic Leukemias, Acute Monoblastic[accessedResource: MSH:D007948][accessDate: 05-04-2011] Leukemias, Acute Monocytic Leukemias, Acute Monocytic[accessedResource: MSH:D007948][accessDate: 05-04-2011] MSH:D007948 MYELOID LEUKEMIA ACUTE M 05 MYELOID LEUKEMIA ACUTE M 05[accessedResource: MSH:D007948][accessDate: 05-04-2011] Monoblastic Leukemia, Acute Monoblastic Leukemia, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011] Monoblastic Leukemias, Acute Monoblastic Leukemias, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011] Monocytic Leukemia, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011] Monocytic Leukemias, Acute Monocytic Leukemias, Acute[accessedResource: MSH:D007948][accessDate: 05-04-2011] Monocytic leukemia, acute Myeloid Leukemia, Acute, M5 Myeloid Leukemia, Acute, M5[accessedResource: MSH:D007948][accessDate: 05-04-2011] Myeloid Leukemia, Schilling Type Myeloid Leukemia, Schilling Type[accessedResource: MSH:D007948][accessDate: 05-04-2011] Myeloid Leukemia, Schilling-Type Myeloid Leukemia, Schilling-Type[accessedResource: MSH:D007948][accessDate: 05-04-2011] OMIM:151380 Schilling-Type Myeloid Leukemia Schilling-Type Myeloid Leukemia[accessedResource: MSH:D007948][accessDate: 05-04-2011] Tomasz Adamusiak acute Monoblastic Leukemia and acute Monocytic Leukemia acute Monoblastic Leukemia and acute Monocytic Leukemia[accessedResource: DOID:8864][accessDate: 05-04-2011] acute monoblastic leukemia acute monoblastic leukemia (disorder) acute monoblastic leukemia (disorder)[accessedResource: DOID:8864][accessDate: 05-04-2011] acute monoblastic leukemia[accessedResource: DOID:8864][accessDate: 05-04-2011] acute monocytic leukaemia acute monocytic leukaemia[accessedResource: DOID:8864][accessDate: 05-04-2011] acute monocytic leukemia without mention of remission acute monocytic leukemia without mention of remission[accessedResource: DOID:8864][accessDate: 05-04-2011] acute monocytic leukemia, FAB M5 (disorder) acute monocytic leukemia, FAB M5 (disorder)[accessedResource: DOID:8864][accessDate: 05-04-2011] acute monocytic leukemia, morphology (morphologic abnormality) acute monocytic leukemia, morphology (morphologic abnormality)[accessedResource: DOID:8864][accessDate: 05-04-2011] acute myeloid leukemia AML AML - acute Myeloid Leukemia AML - acute Myeloid Leukemia[accessedResource: DOID:9119][accessDate: 05-04-2011] AML[accessedResource: DOID:9119][accessDate: 05-04-2011] ANLL ANLL in Remission ANLL in Remission[accessedResource: DOID:9119][accessDate: 05-04-2011] ANLL[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myeloblastic Leukemia Acute Myeloblastic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myeloblastic Leukemias Acute Myeloblastic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myelocytic Leukemia Acute Myelocytic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myelocytic Leukemias Acute Myelocytic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myelogenous Leukemia Acute Myelogenous Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myelogenous Leukemias Acute Myelogenous Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myeloid Leukemia with Maturation Acute Myeloid Leukemia with Maturation[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myeloid Leukemia without Maturation Acute Myeloid Leukemia without Maturation[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Myeloid Leukemias Acute Myeloid Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Nonlymphoblastic Leukemia Acute Nonlymphoblastic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Nonlymphoblastic Leukemias Acute Nonlymphoblastic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Nonlymphocytic Leukemia Acute Nonlymphocytic Leukemia[accessedResource: MSH:D015470][accessDate: 05-04-2011] Acute Nonlymphocytic Leukemias Acute Nonlymphocytic Leukemias[accessedResource: MSH:D015470][accessDate: 05-04-2011] Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES. Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.[accessedResource: MSH:D015470][accessDate: 05-04-2011] DOID:9119 GeneRIF:11714811 GeneRIF:11755471 GeneRIF:11782354 GeneRIF:11809673 GeneRIF:11823047 GeneRIF:11830489 GeneRIF:11847008 GeneRIF:11911810 GeneRIF:11920209 GeneRIF:11921279 GeneRIF:11964319 GeneRIF:11986944 GeneRIF:11986947 GeneRIF:11986950 GeneRIF:11986951 GeneRIF:11999574 GeneRIF:12008077 GeneRIF:12008078 GeneRIF:12031912 GeneRIF:12031914 GeneRIF:12036858 GeneRIF:12060632 GeneRIF:12070009 GeneRIF:12082641 GeneRIF:12091906 GeneRIF:12096348 GeneRIF:12112533 GeneRIF:12127405 GeneRIF:12130514 GeneRIF:12145683 GeneRIF:12145704 GeneRIF:12152989 GeneRIF:12161354 GeneRIF:12163055 GeneRIF:12171773 GeneRIF:12171774 GeneRIF:12186696 GeneRIF:12187073 GeneRIF:12200377 GeneRIF:12208746 GeneRIF:12209593 GeneRIF:12239146 GeneRIF:12239147 GeneRIF:12351377 GeneRIF:12351411 GeneRIF:12369998 GeneRIF:12389613 GeneRIF:12393285 GeneRIF:12393383 GeneRIF:12393438 GeneRIF:12393447 GeneRIF:12393450 GeneRIF:12408767 GeneRIF:12411058 GeneRIF:12417632 GeneRIF:12427969 GeneRIF:12433286 GeneRIF:12453880 GeneRIF:12461747 GeneRIF:12481903 GeneRIF:12496475 GeneRIF:12529664 GeneRIF:12543865 GeneRIF:12554803 GeneRIF:12557231 GeneRIF:12560229 GeneRIF:12604403 GeneRIF:12618766 GeneRIF:12637330 GeneRIF:12660026 GeneRIF:12661007 GeneRIF:12665971 GeneRIF:12676584 GeneRIF:12691136 GeneRIF:12696071 GeneRIF:12699896 GeneRIF:12717436 GeneRIF:12738986 GeneRIF:12760263 GeneRIF:12799277 GeneRIF:12854887 GeneRIF:12855590 GeneRIF:12921955 GeneRIF:12926083 GeneRIF:12931227 GeneRIF:12935959 GeneRIF:12969963 GeneRIF:12970762 GeneRIF:12970781 GeneRIF:14506644 GeneRIF:14562119 GeneRIF:14576828 GeneRIF:14580777 GeneRIF:14615365 GeneRIF:14615378 GeneRIF:14623259 GeneRIF:14628086 GeneRIF:14630076 GeneRIF:14654075 GeneRIF:14654079 GeneRIF:14654525 GeneRIF:14662338 GeneRIF:14674243 GeneRIF:14689061 GeneRIF:14726504 GeneRIF:14737076 GeneRIF:14737077 GeneRIF:14738146 GeneRIF:14749703 GeneRIF:14762685 GeneRIF:14959847 GeneRIF:14966519 GeneRIF:14966562 GeneRIF:14977832 GeneRIF:15039279 GeneRIF:15054042 GeneRIF:15061191 GeneRIF:15085153 GeneRIF:15103390 GeneRIF:15128421 GeneRIF:15146183 GeneRIF:15203865 GeneRIF:15203866 GeneRIF:15208643 GeneRIF:15234575 GeneRIF:15282682 GeneRIF:15289327 GeneRIF:15297415 GeneRIF:15304385 GeneRIF:15309527 GeneRIF:15313458 GeneRIF:15325104 GeneRIF:15334552 GeneRIF:15385933 GeneRIF:15388581 GeneRIF:15451031 GeneRIF:15489901 GeneRIF:15522959 GeneRIF:15569991 GeneRIF:15575056 GeneRIF:15604885 GeneRIF:15604894 GeneRIF:15607361 GeneRIF:15607368 GeneRIF:15618958 GeneRIF:15621793 GeneRIF:15659725 GeneRIF:15674343 GeneRIF:15674355 GeneRIF:15717688 GeneRIF:15718420 GeneRIF:15725483 GeneRIF:15735013 GeneRIF:15735743 GeneRIF:15749074 GeneRIF:15772702 GeneRIF:15831697 GeneRIF:15840695 GeneRIF:15849769 GeneRIF:15849776 GeneRIF:15855281 GeneRIF:15902282 GeneRIF:15921740 GeneRIF:15959531 GeneRIF:15978940 GeneRIF:15983063 GeneRIF:15985538 GeneRIF:15988004 GeneRIF:16012335 GeneRIF:16094422 GeneRIF:16105979 GeneRIF:16107886 GeneRIF:16115907 GeneRIF:16136505 GeneRIF:16138343 GeneRIF:16239914 ICD9:205.0 James Malone Leukemia, Acute Myeloblastic Leukemia, Acute Myeloblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Acute Myelocytic Leukemia, Acute Myelocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Acute Myelogenous Leukemia, Acute Myelogenous[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Acute Myeloid Leukemia, Acute Myeloid[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Acute Nonlymphoblastic Leukemia, Acute Nonlymphoblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Acute Nonlymphocytic Leukemia, Acute Nonlymphocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Myeloblastic, Acute Leukemia, Myeloblastic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Myelocytic, Acute Leukemia, Myelocytic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Myelogenous, Acute Leukemia, Myelogenous, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Myeloid, Acute Leukemia, Myeloid, Acute, M1 Leukemia, Myeloid, Acute, M1[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Myeloid, Acute, M2 Leukemia, Myeloid, Acute, M2[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Myeloid, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Nonlymphoblastic, Acute Leukemia, Nonlymphoblastic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemia, Nonlymphocytic, Acute Leukemia, Nonlymphocytic, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemias, Acute Myeloblastic Leukemias, Acute Myeloblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemias, Acute Myelocytic Leukemias, Acute Myelocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemias, Acute Myelogenous Leukemias, Acute Myelogenous[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemias, Acute Myeloid Leukemias, Acute Myeloid[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemias, Acute Nonlymphoblastic Leukemias, Acute Nonlymphoblastic[accessedResource: MSH:D015470][accessDate: 05-04-2011] Leukemias, Acute Nonlymphocytic Leukemias, Acute Nonlymphocytic[accessedResource: MSH:D015470][accessDate: 05-04-2011] MSH:D015470 Myeloblastic Leukemia, Acute Myeloblastic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myeloblastic Leukemias, Acute Myeloblastic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myelocytic Leukemia, Acute Myelocytic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myelocytic Leukemias, Acute Myelocytic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myelogenous Leukemia, Acute Myelogenous Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myelogenous Leukemias, Acute Myelogenous Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myeloid Leukemia, Acute Myeloid Leukemia, Acute, M1 Myeloid Leukemia, Acute, M1[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myeloid Leukemia, Acute, M2 Myeloid Leukemia, Acute, M2[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myeloid Leukemias, Acute Myeloid Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Myeloid leukemia, acute[accessedResource: ICD9:205.0][accessDate: 05-04-2011] Nonlymphoblastic Leukemia, Acute Nonlymphoblastic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Nonlymphoblastic Leukemias, Acute Nonlymphoblastic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Nonlymphocytic Leukemia, Acute Nonlymphocytic Leukemia, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] Nonlymphocytic Leukemias, Acute Nonlymphocytic Leukemias, Acute[accessedResource: MSH:D015470][accessDate: 05-04-2011] OMIM:601626 Tomasz Adamusiak acute myeloblastic leukemia (disorder) acute myeloblastic leukemia (disorder)[accessedResource: DOID:9119][accessDate: 05-04-2011] acute myeloid leukaemia acute myeloid leukaemia - category acute myeloid leukaemia, disease acute myeloid leukaemia, disease[accessedResource: DOID:9119][accessDate: 05-04-2011] acute myeloid leukaemia[accessedResource: DOID:9119][accessDate: 05-04-2011] acute myeloid leukemia in remission acute myeloid leukemia in remission (disorder) acute myeloid leukemia without mention of remission acute myeloid leukemia without mention of remission[accessedResource: DOID:9119][accessDate: 05-04-2011] acute non-lymphocytic leukaemia acute myelomonocytic leukemia AMML AMML[accessedResource: NCIt:C7463][accessDate: 05-04-2011] Acute M4 Myeloid Leukemia Acute M4 Myeloid Leukemia[accessedResource: NCIt:C7463][accessDate: 05-04-2011] Acute Myelomonocytic Leukemia (FAB Type M4) Acute Myelomonocytic Leukemia (FAB Type M4)[accessedResource: NCIt:C7463][accessDate: 05-04-2011] An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. Patients typically present with anemia, thrombocytopenia, fever and fatigue. This type of leukemia frequently responds to aggressive therapy. (WHO, 2001) -- 2003 An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. Patients typically present with anemia, thrombocytopenia, fever and fatigue. This type of leukemia frequently responds to aggressive therapy. (WHO, 2001) -- 2003[accessedResource: NCIt:C7463][accessDate: 05-04-2011] NCIt:C7463 Tomasz Adamusiak acute promyelocytic leukemia AML with t(15;17)(q22;q12) AML with t(15;17)(q22;q12)[accessedResource: NCIt:C3182][accessDate: 05-04-2011] APL APL[accessedResource: NCIt:C3182][accessDate: 05-04-2011] APML APML - Acute promyelocytic leukemia APML - Acute promyelocytic leukemia[accessedResource: NCIt:C3182][accessDate: 05-04-2011] APML[accessedResource: NCIt:C3182][accessDate: 05-04-2011] Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML-RARA[accessedResource: NCIt:C3182][accessDate: 05-04-2011] Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA Acute Promyelocytic Leukemia with t(15;17)(q22;q12); PML/RARA[accessedResource: NCIt:C3182][accessDate: 05-04-2011] An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and micro granular (hypo granular) variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) -- 2003 An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001) An acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. It is characterized by the t(15;17)(q22;q12) translocation. There are two variants: the typical and microgranular variant. This AML is particularly sensitive to treatment with all trans-retinoic acid and has a favorable prognosis. (WHO, 2001)[accessedResource: NCIt:C3182][accessDate: 05-04-2011] FAB M3 FAB M3[accessedResource: NCIt:C3182][accessDate: 05-04-2011] NCIt:C3182 OMIM:612376 Promyelocytic Leukemia Promyelocytic Leukemia[accessedResource: NCIt:C3182][accessDate: 05-04-2011] Tomasz Adamusiak acute quadriplegic myopathy James Malone NCI Metathesaurus: C1406910 adaxial cells James Malone ZFA:0000003 adaxial cell adaxial cell[accessedResource: ZFA:0000003][accessDate: 05-04-2011] obsolete_adductor mandibulae complex Is a mandibular muscle that consists of three subdivisions A1, A2, and A3. All three originate on the hyomandibula and suspensorium but each has a distinct insertion. A1 inserts on the maxilla, A2 inserts along the caudal margin of the articular and A3 inserts on the medial surface of the articular. Is a mandibular muscle that consists of three subdivisions A1, A2, and A3. All three originate on the hyomandibula and suspensorium but each has a distinct insertion. A1 inserts on the maxilla, A2 inserts along the caudal margin of the articular and A3 inserts on the medial surface of the articular.[accessedResource: ZFA:0000311][accessDate: 05-04-2011] James Malone ZFA:0000311 2.38 Use http://purl.obolibrary.org/obo/UBERON_0011683 label: adductor mandibulae true adenocarcinoma A malignant epithelial tumor with a glandular organization. A malignant epithelial tumor with a glandular organization.[accessedResource: MSH:D000230][accessDate: 05-04-2011] A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures. Adenocarcinoma, Basal Cell Adenocarcinoma, Basal Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinoma, Granular Cell Adenocarcinoma, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinoma, Oxyphilic Adenocarcinoma, Oxyphilic[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinoma, Tubular Adenocarcinoma, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinomas Adenocarcinomas, Basal Cell Adenocarcinomas, Basal Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinomas, Granular Cell Adenocarcinomas, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinomas, Oxyphilic Adenocarcinomas, Oxyphilic[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinomas, Tubular Adenocarcinomas, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenoma, Malignant Adenoma, Malignant[accessedResource: MSH:D000230][accessDate: 05-04-2011] Adenomas, Malignant Adenomas, Malignant[accessedResource: MSH:D000230][accessDate: 05-04-2011] Basal Cell Adenocarcinoma Basal Cell Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Basal Cell Adenocarcinomas Basal Cell Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] CRISP Thesaurus 2006, Term Number 2000-0386, http://crisp.cit.nih.gov/Thesaurus/00000107.htm Date accessed: 1st Novemeber 2007 Carcinoma, Cribriform Carcinoma, Cribriform[accessedResource: MSH:D000230][accessDate: 05-04-2011] Carcinoma, Granular Cell Carcinoma, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011] Carcinoma, Tubular Carcinoma, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011] Carcinomas, Cribriform Carcinomas, Cribriform[accessedResource: MSH:D000230][accessDate: 05-04-2011] Carcinomas, Granular Cell Carcinomas, Granular Cell[accessedResource: MSH:D000230][accessDate: 05-04-2011] Carcinomas, Tubular Carcinomas, Tubular[accessedResource: MSH:D000230][accessDate: 05-04-2011] Cribriform Carcinoma Cribriform Carcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Cribriform Carcinomas Cribriform Carcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] Granular Cell Adenocarcinoma Granular Cell Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Granular Cell Adenocarcinomas Granular Cell Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] Granular Cell Carcinoma Granular Cell Carcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Granular Cell Carcinomas Granular Cell Carcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] James Malone MSH:D000230 Malignant Adenoma Malignant Adenoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Malignant Adenomas Malignant Adenomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] Oxyphilic Adenocarcinoma Oxyphilic Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Oxyphilic Adenocarcinomas Oxyphilic Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] Tomasz Adamusiak Tubular Adenocarcinoma Tubular Adenocarcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Tubular Adenocarcinomas Tubular Adenocarcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] Tubular Carcinoma Tubular Carcinoma[accessedResource: MSH:D000230][accessDate: 05-04-2011] Tubular Carcinomas Tubular Carcinomas[accessedResource: MSH:D000230][accessDate: 05-04-2011] obsolete_adenohypophyseal placode James Malone ZFA:0001198 pituitary placode pituitary placode[accessedResource: ZFA:0001198][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0009122 label: adenohypophyseal placode true obsolete_adenohypophysis BTO:0000040 James Malone NIFSTD:birnlex_1581 The anterior glandular lobe of the pituitary gland. The anterior glandular lobe of the pituitary gland.[accessedResource: BTO:0000040][accessDate: 05-04-2011] The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish. The anterior lobe of the hypophysis (pituitary gland). This lobe contains cells that produce prolactin, growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone and proopiomelanocortin. In contrast to mammalian vertebrates, the adenohypophysis remains in a subepithelial position and there exists no equivalent of Rathke's pouch in zebrafish.[accessedResource: ZFA:0001282][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001282 anterior hypophysis anterior hypophysis[accessedResource: ZFA:0001282][accessDate: 05-04-2011] anterior lobe of pituitary anterior lobe of pituitary[accessedResource: NIFSTD:birnlex_1581][accessDate: 05-04-2011] anterior pituitary anterior pituitary gland anterior pituitary[accessedResource: ZFA:0001282][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002196 label: adenohypophysis 2.38 true adenoid cystic carcinoma A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic. A malignant tumor arising from the epithelial cells. Microscopically, the neoplastic epithelial cells form cylindrical spatial configurations (cribriform or classic type of adenoid cystic carcinoma), cordlike structures (tubular type of adenoid cystic carcinoma), or solid structures (basaloid variant of adenoid cystic carcinoma). Adenoid cystic carcinomas mostly occur in the salivary glands. Other primary sites of involvement include the lacrimal gland, the larynx, and the lungs. Adenoid cystic carcinomas spread along nerve sheaths, resulting in severe pain, and they tend to recur. Lymph node metastases are unusual; hematogenous tumor spread is characteristic.[accessedResource: NCIt:C2970][accessDate: 05-04-2011] Adenocarcinoma, cylindroid Adenocarcinoma, cylindroid[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011] Adenocystic Carcinoma Adenocystic Carcinoma[accessedResource: MSH:D003528][accessDate: 05-04-2011] Adenocystic Carcinomas Adenocystic Carcinomas[accessedResource: MSH:D003528][accessDate: 05-04-2011] Adenoid Cystic Carcinomas Adenoid Cystic Carcinomas[accessedResource: MSH:D003528][accessDate: 05-04-2011] Adenoid cystic carcinoma (morphologic abnormality) Bronchial adenoma, cylindroid Bronchial adenoma, cylindroid[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011] Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed) Carcinoma characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. When the cylinders occur within masses of epithelial cells, they give the tissue a perforated, sievelike, or cribriform appearance. Such tumors occur in the mammary glands, the mucous glands of the upper and lower respiratory tract, and the salivary glands. They are malignant but slow-growing, and tend to spread locally via the nerves. (Dorland, 27th ed)[accessedResource: MSH:D003528][accessDate: 05-04-2011] Carcinoma, Adenocystic Carcinoma, Adenocystic[accessedResource: MSH:D003528][accessDate: 05-04-2011] Carcinoma, Adenoid Cystic Carcinoma, Adenoid Cystic[accessedResource: MSH:D003528][accessDate: 05-04-2011] Carcinomas, Adenocystic Carcinomas, Adenocystic[accessedResource: MSH:D003528][accessDate: 05-04-2011] Carcinomas, Adenoid Cystic Carcinomas, Adenoid Cystic[accessedResource: MSH:D003528][accessDate: 05-04-2011] Cylindroid Adenocarcinoma Cylindroid Adenocarcinoma[accessedResource: NCIt:C2970][accessDate: 05-04-2011] Cylindroma Cylindroma (except Cylindroma of skin, M-82000) Cylindroma (except Cylindroma of skin, M-82000)[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011] Cylindroma (morphologic abnormality) Cylindroma (morphologic abnormality)[accessedResource: DOID:4866][accessDate: 05-04-2011] Cylindroma NOS Cylindroma NOS[accessedResource: DOID:4866][accessDate: 05-04-2011] Cylindroma, NOS (except Cylindroma of skin, M-82000) Cylindroma, NOS (except Cylindroma of skin, M-82000)[accessedResource: SNOMEDCT:11671000][accessDate: 05-04-2011] Cylindroma[accessedResource: MSH:D003528][accessDate: 05-04-2011] Cylindromas Cylindromas[accessedResource: MSH:D003528][accessDate: 05-04-2011] Cystic Carcinoma, Adenoid Cystic Carcinoma, Adenoid[accessedResource: MSH:D003528][accessDate: 05-04-2011] Cystic Carcinomas, Adenoid Cystic Carcinomas, Adenoid[accessedResource: MSH:D003528][accessDate: 05-04-2011] DOID:4866 GeneRIF:11780226 GeneRIF:12452045 GeneRIF:12624503 GeneRIF:15292943 GeneRIF:15370139 GeneRIF:15529180 GeneRIF:15943036 James Malone MSH:D003528 NCIt:C2970 SNOMEDCT:11671000 adenoid cystic cancer adenoid cystic cancer[accessedResource: DOID:4866][accessDate: 05-04-2011] adenoid cystic carcinoma (morphologic abnormality)[accessedResource: DOID:4866][accessDate: 05-04-2011] adenoma A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract.[accessedResource: NCIt:C2855][accessDate: 05-04-2011] A neoplasm arising from the epithelium. It may be encapsulated or non-encapsulated but non-invasive. The neoplastic epithelial cells may or may not display cellular atypia or dysplasia. In the gastrointestinal tract, when dysplasia becomes severe it is sometimes called carcinoma in situ. Representative examples are pituitary gland adenoma, follicular adenoma of the thyroid gland, and adenomas (or adenomatous polyps) of the gastrointestinal tract. James Malone NCIt:C2855 adenomas adenosquamous lung carcinoma Adenosquamous Cell Lung Carcinoma[accessedResource: NCIt:C9133][accessDate: 05-04-2011] An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells. An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.[accessedResource: NCIt:C9133][accessDate: 05-04-2011] DOID:4829 James Malone NCIt:C9133 adenosquamous cell lung carcinoma obsolete_adipose tissue MMHCC James Malone NCIt:C22703 No longer required in EFO (no supporting use case) true obsolete_adipose tissue brown MMHCC NCIt:C22704 Use brown fat EFO_0000812 instead true obsolete_adrenal cortex 2.38 BTO:0000045 Cortex of adrenal gland Cortex of adrenal gland[accessedResource: NCIt:C12396][accessDate: 05-04-2011] Cortical Cortical[accessedResource: NCIt:C12396][accessDate: 05-04-2011] EMAPA:18427 EV:0100136 James Malone MA:0000118 MAT:0000494 NCIt:C12396 The outer layer of the adrenal gland. It secretes mineralocorticoids, androgens, and glucocorticoids. (MeSH) The outer layer of the adrenal gland. It secretes mineralocorticoids, androgens, and glucocorticoids. (MeSH)[accessedResource: NCIt:C12396][accessDate: 05-04-2011] The outer portion of the adrenal glands that produces several steroid hormones, including cortisol and aldosterone. The outer portion of the adrenal glands that produces several steroid hormones, including cortisol and aldosterone.[accessedResource: BTO:0000045][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001235 Label: adrenal cortex XAO:0000165 cortex glandulae suprarenalis cortex of suprarenal gland suprarenal cortex true adrenal gland pheochromocytoma A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present. A benign or malignant neuroendocrine neoplasm of the sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the adrenal medulla. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffin Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Adrenal Gland Chromaffinoma Adrenal Gland Chromaffinoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Adrenal Gland Paraganglioma Adrenal Gland Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Adrenal Medullary Paraganglioma Adrenal Medullary Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Adrenal Medullary Pheochromocytoma Adrenal Medullary Pheochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Adrenal Pheochromocytoma Adrenal Pheochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Chromaffin Paraganglioma of the Adrenal Gland Chromaffin Paraganglioma of the Adrenal Gland[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Intraadrenal Paraganglioma Intraadrenal Paraganglioma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] James Malone NCIt:C3326 PCC PCC[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Phaeochromocytoma Phaeochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] Pheochromocytoma Pheochromocytoma[accessedResource: NCIt:C3326][accessDate: 05-04-2011] adult eye primordium . .[accessedResource: FBbt:00005515][accessDate: 05-04-2011] FBbt:00005515 James Malone adult eye primordium early adult eye primordium early[accessedResource: FBbt:00005515][accessDate: 05-04-2011] adult foregut precursor FBbt:00005611 James Malone adult hindgut precursor FBbt:00005646 James Malone obsolete_Malpighian tubule Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs. Any of a group of long blind vessels opening into the posterior part of the alimentary canal in most insects and some other arthropods and functioning primarily as excretory organs.[accessedResource: BTO:0000810][accessDate: 05-04-2011] BTO:0000810 Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978). Epithelial tube with excretory and osmoregulatory roles connected, via a ureter, to the alimentary canal at the junction of the hindgut and midgut. There are two pairs of Malpighian tubules, the right pair lie at the anterior end of the abdomen, and the left pair at the posterior. Each tubule unites with its partner to form a common ureter which enters the alimentary canal at the junction of the hindgut and midgut (Wessing and Eichelberg, 1978).[accessedResource: FBbt:00005786][accessDate: 05-04-2011] FBbt:00005725 FBbt:00005786 James Malone MAT:0000123 Malpighian tubules Malpighian tubules[accessedResource: MAT:0000123][accessDate: 05-04-2011] TADS:0000163 TGMA:0001038 The most important structure of the insect's excretory organ, which may comprise cystiform or labyrinthine highly versatile tubules having their outlet into the initial section of the rectum. There are five Malpighian tubules that are attached to the alimentary canal posteriorly. There are five Malpighian tubules that are attached to the alimentary canal posteriorly.[accessedResource: TGMA:0001038][accessDate: 05-04-2011] adult Malpighian tubule adult Malpighian tubule[accessedResource: FBbt:00005725][accessDate: 05-04-2011] adult Malpighian tubules adult Malpighian tubules[accessedResource: TGMA:0001038][accessDate: 05-04-2011] malphigian tube tuba Malpighii 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001054 label: malpighian tubule true adult midgut precursor AMP FBbt:00000449 James Malone spindle cells adult muscle precursor primordium FBbt:00005516 James Malone adult muscle precursor specific anlage age 3 days post planting A temporal measurement of the time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. Otherwise the identifiable point must be specified such as planting (e.g. 3 days post planting). James Malone Jie Zheng MO_467 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#age obsolete_Aicardi syndrome A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye.[accessedResource: DOID:8461][accessDate: 05-04-2011] AIC - Aicardi syndrome[accessedResource: SNOMEDCT:80651009][accessDate: 05-04-2011] Aicardi's syndrome (disorder)[accessedResource: DOID:8461][accessDate: 05-04-2011] Aicardi's syndrome[accessedResource: SNOMEDCT:80651009][accessDate: 05-04-2011] DOID:8461 James Malone NCIt:C35256 OMIM:304050 SNOMEDCT:80651009 Tomasz Adamusiak true use 'http://www.orphanet.org/rdfns#pat_id_254' instead. New Label : Aicardi syndrome 2.32 alveolar rhabdomyosarcoma A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. "Alveolar" refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)[accessedResource: MSH:D018232][accessDate: 05-04-2011] A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities. A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.[accessedResource: NCIt:C3749][accessDate: 05-04-2011] ARMS ARMS[accessedResource: NCIt:C3749][accessDate: 05-04-2011] Alveolar Alveolar Rhabdomyosarcomas Alveolar Rhabdomyosarcomas[accessedResource: MSH:D018232][accessDate: 05-04-2011] Alveolar rhabdomyosarcoma (disorder) Alveolar rhabdomyosarcoma (disorder)[accessedResource: SNOMEDCT:404053004][accessDate: 05-04-2011] Alveolar rhabdomyosarcoma (morphologic abnormality) Alveolar rhabdomyosarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:63449009][accessDate: 05-04-2011] DOID:4051 GeneRIF:11846302 GeneRIF:12039929 GeneRIF:15140004 GeneRIF:16157701 James Malone MSH:D018232 NCIt:C3749 OMIM:268220 Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma, Alveolar[accessedResource: MSH:D018232][accessDate: 05-04-2011] Rhabdomyosarcomas, Alveolar Rhabdomyosarcomas, Alveolar[accessedResource: MSH:D018232][accessDate: 05-04-2011] SNOMEDCT:404053004 SNOMEDCT:63449009 Tomasz Adamusiak aveolar rhabdomyosarcoma aveolar rhabdomyosarcoma[accessedResource: DOID:4051][accessDate: 05-04-2011] Alzheimer's disease A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57) A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)[accessedResource: MSH:D000544][accessDate: 05-04-2011] A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability. A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.[accessedResource: DOID:10652][accessDate: 05-04-2011] A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language. A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.[accessedResource: NCIt:C2866][accessDate: 05-04-2011] AD AD - Alzheimer's disease AD - Alzheimer's disease[accessedResource: SNOMEDCT:26929004][accessDate: 05-04-2011] AD[accessedResource: DOID:10652][accessDate: 05-04-2011] ALZHEIMER DIS ALZHEIMER DIS EARLY ONSET ALZHEIMER DIS EARLY ONSET[accessedResource: MSH:D000544][accessDate: 05-04-2011] ALZHEIMER DIS LATE ONSET ALZHEIMER DIS LATE ONSET[accessedResource: MSH:D000544][accessDate: 05-04-2011] ALZHEIMER DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011] ALZHEIMERS DIS ALZHEIMERS DIS FOCAL ONSET ALZHEIMERS DIS FOCAL ONSET[accessedResource: MSH:D000544][accessDate: 05-04-2011] ALZHEIMERS DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011] Acute Confusional Senile Dementia Acute Confusional Senile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer Dementia Alzheimer Dementia, Presenile Alzheimer Dementia, Presenile[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer Disease Alzheimer Disease, Early Onset Alzheimer Disease, Early Onset[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer Disease, Late Onset Alzheimer Disease, Late Onset[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer Senile Dementia Alzheimer Senile Dementia[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011] Alzheimer Type Dementia Alzheimer Type Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer Type Senile Dementia Alzheimer Type Senile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer dementia[accessedResource: NCIt:C2866][accessDate: 05-04-2011] Alzheimer's Alzheimer's Dementia Alzheimer's Dementia[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011] Alzheimer's Disease Pathway Alzheimer's Disease Pathway KEGG Alzheimer's Disease Pathway KEGG[accessedResource: NCIt:C38778][accessDate: 05-04-2011] Alzheimer's Disease, Focal Onset Alzheimer's Disease, Focal Onset[accessedResource: MSH:D000544][accessDate: 05-04-2011] Alzheimer's disease (disorder) Alzheimer's disease (disorder)[accessedResource: DOID:10652][accessDate: 05-04-2011] Alzheimer's disease, NOS Alzheimer's disease, NOS[accessedResource: SNOMEDCT:26929004][accessDate: 05-04-2011] Alzheimer's[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011] Alzheimers Alzheimers Dementia Alzheimers Dementia[accessedResource: DOID:10652][accessDate: 05-04-2011] Alzheimers disease Alzheimers disease[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011] Alzheimers[accessedResource: NIFSTD:birnlex_2092][accessDate: 05-04-2011] DAT - Dementia Alzheimer's type DAT - Dementia Alzheimer's type[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011] DOID:10652 Dementia in Alzheimer's disease Dementia in Alzheimer's disease (disorder) Dementia in Alzheimer's disease (disorder)[accessedResource: DOID:10652][accessDate: 05-04-2011] Dementia in Alzheimer's disease, unspecified (disorder) Dementia in Alzheimer's disease, unspecified (disorder)[accessedResource: DOID:10652][accessDate: 05-04-2011] Dementia in Alzheimer's disease[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011] Dementia of the Alzheimer's type Dementia of the Alzheimer's type[accessedResource: DOID:10652][accessDate: 05-04-2011] Dementia, Alzheimer Type Dementia, Alzheimer Type[accessedResource: MSH:D000544][accessDate: 05-04-2011] Dementia, Presenile Dementia, Presenile Alzheimer Dementia, Presenile Alzheimer[accessedResource: MSH:D000544][accessDate: 05-04-2011] Dementia, Presenile[accessedResource: MSH:D000544][accessDate: 05-04-2011] Dementia, Primary Senile Degenerative Dementia, Primary Senile Degenerative[accessedResource: MSH:D000544][accessDate: 05-04-2011] Dementia, Senile Dementia, Senile[accessedResource: MSH:D000544][accessDate: 05-04-2011] Dementias, Presenile Dementias, Presenile[accessedResource: MSH:D000544][accessDate: 05-04-2011] Dementias, Senile Dementias, Senile[accessedResource: MSH:D000544][accessDate: 05-04-2011] Disease, Alzheimer Disease, Alzheimer's Disease, Alzheimer's[accessedResource: MSH:D000544][accessDate: 05-04-2011] Disease, Alzheimer[accessedResource: MSH:D000544][accessDate: 05-04-2011] EARLY ONSET ALZHEIMER DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011] Early Onset Alzheimer Disease Early Onset Alzheimer Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011] FOCAL ONSET ALZHEIMERS DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011] Focal Onset Alzheimer's Disease Focal Onset Alzheimer's Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011] GeneRIF:11278808 GeneRIF:11552008 GeneRIF:11592857 GeneRIF:11756426 GeneRIF:11771745 GeneRIF:11771746 GeneRIF:11771749 GeneRIF:11771751 GeneRIF:11798857 GeneRIF:11826038 GeneRIF:11831025 GeneRIF:11831556 GeneRIF:11837743 GeneRIF:11837744 GeneRIF:11840502 GeneRIF:11841602 GeneRIF:11847218 GeneRIF:11848684 GeneRIF:11849768 GeneRIF:11852060 GeneRIF:11897170 GeneRIF:11905990 GeneRIF:11920850 GeneRIF:11927360 GeneRIF:11927634 GeneRIF:11936240 GeneRIF:11939591 GeneRIF:11940690 GeneRIF:11971084 GeneRIF:11992568 GeneRIF:12009501 GeneRIF:12023056 GeneRIF:12025816 GeneRIF:12032152 GeneRIF:12068009 GeneRIF:12070657 GeneRIF:12074831 GeneRIF:12080182 GeneRIF:12084708 GeneRIF:12098640 GeneRIF:12107813 GeneRIF:12109594 GeneRIF:12111440 GeneRIF:12111806 GeneRIF:12112084 GeneRIF:12112088 GeneRIF:12116197 GeneRIF:12117364 GeneRIF:12127670 GeneRIF:12133495 GeneRIF:12142731 GeneRIF:12145324 GeneRIF:12147333 GeneRIF:12149413 GeneRIF:12151789 GeneRIF:12160938 GeneRIF:12175481 GeneRIF:12177374 GeneRIF:12192622 GeneRIF:12200143 GeneRIF:12200623 GeneRIF:12218659 GeneRIF:12221172 GeneRIF:12223024 GeneRIF:12226093 GeneRIF:12232784 GeneRIF:12242547 GeneRIF:12270958 GeneRIF:12362316 GeneRIF:12368187 GeneRIF:12387451 GeneRIF:12401548 GeneRIF:12408226 GeneRIF:12408231 GeneRIF:12417379 GeneRIF:12417381 GeneRIF:12422374 GeneRIF:12435432 GeneRIF:12438920 GeneRIF:12445809 GeneRIF:12459318 GeneRIF:12459519 GeneRIF:12460603 GeneRIF:12480749 GeneRIF:12480753 GeneRIF:12480756 GeneRIF:12483461 GeneRIF:12486154 GeneRIF:12489797 GeneRIF:12497622 GeneRIF:12497631 GeneRIF:12499050 GeneRIF:12499840 GeneRIF:12499843 GeneRIF:12505619 GeneRIF:12508915 GeneRIF:12509807 GeneRIF:12509811 GeneRIF:12514700 GeneRIF:12527400 GeneRIF:12528817 GeneRIF:12531514 GeneRIF:12535780 GeneRIF:12551918 GeneRIF:12555245 GeneRIF:12565129 GeneRIF:12565837 GeneRIF:12566926 GeneRIF:12600202 GeneRIF:12600716 GeneRIF:12600718 GeneRIF:12600719 GeneRIF:12604387 GeneRIF:12605101 GeneRIF:12609057 GeneRIF:12614671 GeneRIF:12614934 GeneRIF:12626500 GeneRIF:12627474 GeneRIF:12641733 GeneRIF:12645087 GeneRIF:12650976 GeneRIF:12692477 GeneRIF:12694406 GeneRIF:12697290 GeneRIF:12702875 GeneRIF:12707936 GeneRIF:12707937 GeneRIF:12707938 GeneRIF:12727335 GeneRIF:12732730 GeneRIF:12740599 GeneRIF:12742739 GeneRIF:12759460 GeneRIF:12770689 GeneRIF:12770691 GeneRIF:12787059 GeneRIF:12796468 GeneRIF:12807433 GeneRIF:12807963 GeneRIF:12809550 GeneRIF:12815750 GeneRIF:12816543 GeneRIF:12824062 GeneRIF:12824768 GeneRIF:12826738 GeneRIF:12859671 GeneRIF:12873803 GeneRIF:12876265 GeneRIF:12876460 GeneRIF:12876480 GeneRIF:12882323 GeneRIF:12888622 GeneRIF:12890766 GeneRIF:12891359 GeneRIF:12893422 GeneRIF:12895443 GeneRIF:12914969 GeneRIF:12925530 GeneRIF:12928051 GeneRIF:12928052 GeneRIF:12928053 GeneRIF:12928512 GeneRIF:12939405 GeneRIF:12960780 GeneRIF:12969266 GeneRIF:12972157 GeneRIF:13678670 GeneRIF:14515137 GeneRIF:14519527 GeneRIF:14519529 GeneRIF:14521990 GeneRIF:14523088 GeneRIF:14523627 GeneRIF:14572447 GeneRIF:14614898 GeneRIF:14625044 GeneRIF:14637088 GeneRIF:14639046 GeneRIF:14646594 GeneRIF:14651959 GeneRIF:14657172 GeneRIF:14661818 GeneRIF:14663182 GeneRIF:14675603 GeneRIF:14688411 GeneRIF:14701757 GeneRIF:14708344 GeneRIF:14717705 GeneRIF:14722078 GeneRIF:14739533 GeneRIF:14739535 GeneRIF:14739536 GeneRIF:14746899 GeneRIF:14757935 GeneRIF:14761950 GeneRIF:14765129 GeneRIF:14978286 GeneRIF:14985339 GeneRIF:14991457 GeneRIF:14991845 GeneRIF:14999081 GeneRIF:15013567 GeneRIF:15014128 GeneRIF:15016430 GeneRIF:15024728 GeneRIF:15024730 GeneRIF:15026113 GeneRIF:15026168 GeneRIF:15030408 GeneRIF:15034766 GeneRIF:15034937 GeneRIF:15048650 GeneRIF:15050722 GeneRIF:15053964 GeneRIF:15056725 GeneRIF:15059642 GeneRIF:15060098 GeneRIF:15068237 GeneRIF:15068244 GeneRIF:15068254 GeneRIF:15070964 GeneRIF:15075440 GeneRIF:15082170 GeneRIF:15082191 GeneRIF:15084795 GeneRIF:15087549 GeneRIF:15091317 GeneRIF:15094456 GeneRIF:15106838 GeneRIF:15106847 GeneRIF:15106853 GeneRIF:15111312 GeneRIF:15115757 GeneRIF:15123740 GeneRIF:15144856 GeneRIF:15147516 GeneRIF:15152345 GeneRIF:15155565 GeneRIF:15167696 GeneRIF:15172102 GeneRIF:15175114 GeneRIF:15178951 GeneRIF:15181247 GeneRIF:15182943 GeneRIF:15184629 GeneRIF:15192701 GeneRIF:15193429 GeneRIF:15193763 GeneRIF:15203119 GeneRIF:15207261 GeneRIF:15210531 GeneRIF:15211644 GeneRIF:15212839 GeneRIF:15228592 GeneRIF:15236409 GeneRIF:15255950 GeneRIF:15255951 GeneRIF:15263903 GeneRIF:15277615 GeneRIF:15313836 GeneRIF:15313842 GeneRIF:15331147 GeneRIF:15337312 GeneRIF:15338333 GeneRIF:15342129 GeneRIF:15355315 GeneRIF:15356202 GeneRIF:15358178 GeneRIF:15364413 GeneRIF:15365176 GeneRIF:15370375 GeneRIF:15375590 GeneRIF:15451372 GeneRIF:15452128 GeneRIF:15452311 GeneRIF:15453269 GeneRIF:15456940 GeneRIF:15464268 GeneRIF:15465084 GeneRIF:15485486 GeneRIF:15509549 GeneRIF:15522224 GeneRIF:15530656 GeneRIF:15546861 GeneRIF:15555766 GeneRIF:15557325 GeneRIF:15567486 GeneRIF:15577914 GeneRIF:15585340 GeneRIF:15596614 GeneRIF:15601849 GeneRIF:15610181 GeneRIF:15621017 GeneRIF:15635706 GeneRIF:15665036 GeneRIF:15699049 GeneRIF:15708435 GeneRIF:15708437 GeneRIF:15716413 GeneRIF:15722183 GeneRIF:15728175 GeneRIF:15732116 GeneRIF:15737439 GeneRIF:15745979 GeneRIF:15755860 GeneRIF:15759131 GeneRIF:15770150 GeneRIF:15776278 GeneRIF:15781969 GeneRIF:15802910 GeneRIF:15804423 GeneRIF:15804918 GeneRIF:15813938 GeneRIF:15823754 GeneRIF:15837559 GeneRIF:15860461 GeneRIF:15860464 GeneRIF:15882808 GeneRIF:15893372 GeneRIF:15899246 GeneRIF:15917098 GeneRIF:15931081 GeneRIF:15944016 GeneRIF:15953364 GeneRIF:15954227 GeneRIF:15956169 GeneRIF:15967987 GeneRIF:15975076 GeneRIF:15975077 GeneRIF:16000144 GeneRIF:16002400 GeneRIF:16023140 GeneRIF:16027741 GeneRIF:16079207 GeneRIF:16082716 GeneRIF:16098202 GeneRIF:16098915 GeneRIF:16101387 GeneRIF:16102903 GeneRIF:16106215 GeneRIF:16111477 GeneRIF:16116115 GeneRIF:16116430 GeneRIF:16130099 GeneRIF:16150694 GeneRIF:16174740 GeneRIF:16179263 GeneRIF:16181410 GeneRIF:16226260 GeneRIF:16231093 GeneRIF:16258844 GeneRIF:16286548 GeneRIF:9701251 ICD9:331.0 James Malone LATE ONSET ALZHEIMER DIS LATE ONSET ALZHEIMER DIS[accessedResource: MSH:D000544][accessDate: 05-04-2011] Late Onset Alzheimer Disease Late Onset Alzheimer Disease[accessedResource: MSH:D000544][accessDate: 05-04-2011] MSH:D000544 NCIt:C2866 NCIt:C38778 NIFSTD:birnlex_2092 OMIM:605526 Presenile Alzheimer Dementia Presenile Alzheimer Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011] Presenile Dementia Presenile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011] Presenile Dementias Presenile Dementias[accessedResource: MSH:D000544][accessDate: 05-04-2011] Primary Senile Degenerative Dementia Primary Senile Degenerative Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011] SNOMEDCT:192160005 SNOMEDCT:192164001 SNOMEDCT:26929004 Senile Dementia Senile Dementia, Acute Confusional Senile Dementia, Acute Confusional[accessedResource: MSH:D000544][accessDate: 05-04-2011] Senile Dementia, Alzheimer Type Senile Dementia, Alzheimer Type[accessedResource: MSH:D000544][accessDate: 05-04-2011] Senile Dementia[accessedResource: MSH:D000544][accessDate: 05-04-2011] Senile Dementias Senile Dementias[accessedResource: MSH:D000544][accessDate: 05-04-2011] Tomasz Adamusiak [X]Dementia in Alzheimer's disease [X]Dementia in Alzheimer's disease (disorder) [X]Dementia in Alzheimer's disease (disorder)[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011] [X]Dementia in Alzheimer's disease, unspecified (disorder)[accessedResource: SNOMEDCT:192164001][accessDate: 05-04-2011] [X]Dementia in Alzheimer's disease, unspecified[accessedResource: SNOMEDCT:192164001][accessDate: 05-04-2011] [X]Dementia in Alzheimer's disease[accessedResource: SNOMEDCT:192160005][accessDate: 05-04-2011] true Alzheimer's disease (late onset) OMIM:104300 obsolete_amnioserosa A dorsal membrane of the embryo. A dorsal membrane of the embryo.[accessedResource: FBbt:00000095][accessDate: 05-04-2011] FBbt:00000095 James Malone Use http://purl.obolibrary.org/obo/UBERON_0010302 label: amnioserosa 2.38 true amnioserosa anlage in statu nascendi A0amnioser FBbt:00005422 James Malone obsolete_amygdala Amygdaloid Body Amygdaloid Nucleus Amygdaloid Nucleus[accessedResource: NCIt:C12440][accessDate: 05-04-2011] Amygdaloid complex[accessedResource: FMAID:61841][accessDate: 05-04-2011] Amygdaloid nuclear complex[accessedResource: FMAID:61841][accessDate: 05-04-2011] Amygdaloid nuclear groups Amygdaloid nuclear groups[accessedResource: FMAID:61841][accessDate: 05-04-2011] An almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. (MeSH) An almond-shaped group of basal nuclei anterior to the inferior horn of the lateral ventricle of the brain, within the temporal lobe. The amygdala is part of the limbic system. (MeSH)[accessedResource: NCIt:C12440][accessDate: 05-04-2011] Archistriatum[accessedResource: FMAID:61841][accessDate: 05-04-2011] BTO:0001042 EV:0100189 FMAID:61841 James Malone MA:0000887 MAT:0000289 MSH:D000679 NCIt:C12440 NIFSTD:birnlex_1241 SAEL:4 Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM). Subcortical brain region lying anterior to the hippocampal formation in the temporal lobe and anterior to the temporal horn of the lateral ventricle in some species. It is usually subdivided into several groups. Functionally, it is not considered a unitary structure (MM).[accessedResource: NIFSTD:birnlex_1241][accessDate: 05-04-2011] Subdivision of basal ganglion of telencephalon which is an almond-shaped gray mass in the dorsomedial part of the temporal lobe. The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe. The one of the four basal ganglia in each cerebral hemisphere that is part of the limbic system and consists of an almond-shaped mass of gray matter in the anterior extremity of the temporal lobe.[accessedResource: BTO:0001042][accessDate: 05-04-2011] Tomasz Adamusiak amygdala central nucleus amygdaloid body[accessedResource: NIFSTD:birnlex_1241][accessDate: 05-04-2011] amygdaloid complex amygdaloid nuclear complex amygdaloid nuclear group archistriatum corpus amygdaloideum nucleus amygdalae true Use http://purl.obolibrary.org/obo/UBERON_0001876 label: amygdala 2.38 true amyotrophic lateral sclerosis A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH). A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011] A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)[accessedResource: MSH:D000690][accessDate: 05-04-2011] ALS ALS (Amyotrophic Lateral Sclerosis) ALS (Amyotrophic Lateral Sclerosis)[accessedResource: MSH:D000690][accessDate: 05-04-2011] ALS - Amyotrophic lateral sclerosis ALS - Amyotrophic lateral sclerosis[accessedResource: SNOMEDCT:86044005][accessDate: 05-04-2011] ALS[accessedResource: NCIt:C34373][accessDate: 05-04-2011] AMYOTROPHIC SCLEROSIS AMYOTROPHIC SCLEROSIS[accessedResource: ICD9:335.20][accessDate: 05-04-2011] Amyotrophic Lateral Sclerosis With Dementia Amyotrophic Lateral Sclerosis With Dementia[accessedResource: MSH:D000690][accessDate: 05-04-2011] Amyotrophic Lateral Sclerosis, Guam Form Amyotrophic Lateral Sclerosis, Guam Form[accessedResource: MSH:D000690][accessDate: 05-04-2011] Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 1[accessedResource: MSH:D000690][accessDate: 05-04-2011] Amyotrophic lateral sclerosis (disorder) Amyotrophic lateral sclerosis (disorder)[accessedResource: DOID:332][accessDate: 05-04-2011] Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam Amyotrophic lateral sclerosis, Parkinsonism/Dementia complex of Guam[accessedResource: MSH:D000690][accessDate: 05-04-2011] An autosomal dominant inherited form of amyloidosis. An autosomal dominant inherited form of amyloidosis.[accessedResource: NCIt:C34373][accessDate: 05-04-2011] Bulbar motor neuron disease Bulbar motor neuron disease[accessedResource: SNOMEDCT:86044005][accessDate: 05-04-2011] DOID:332 Dementia With Amyotrophic Lateral Sclerosis Dementia With Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011] Disease, Lou-Gehrigs Disease, Lou-Gehrigs[accessedResource: MSH:D000690][accessDate: 05-04-2011] GEHRIGS DIS GEHRIGS DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011] Gehrig Disease Gehrig Disease[accessedResource: MSH:D000690][accessDate: 05-04-2011] Gehrig's Disease Gehrig's Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011] Gehrigs Disease Gehrigs Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011] GeneRIF:11675877 GeneRIF:11854284 GeneRIF:11854285 GeneRIF:11860274 GeneRIF:11943600 GeneRIF:11951178 GeneRIF:11991808 GeneRIF:11996514 GeneRIF:12039658 GeneRIF:12125045 GeneRIF:12127151 GeneRIF:12138710 GeneRIF:12153483 GeneRIF:12210393 GeneRIF:12217886 GeneRIF:12230304 GeneRIF:12235108 GeneRIF:12270696 GeneRIF:12393885 GeneRIF:12437574 GeneRIF:12441104 GeneRIF:12442272 GeneRIF:12446576 GeneRIF:12448348 GeneRIF:12458194 GeneRIF:12475980 GeneRIF:12480087 GeneRIF:12502789 GeneRIF:12528821 GeneRIF:12584731 GeneRIF:12614934 GeneRIF:12641746 GeneRIF:12644909 GeneRIF:12659845 GeneRIF:12677446 GeneRIF:12679596 GeneRIF:12694394 GeneRIF:12707786 GeneRIF:12730211 GeneRIF:12770687 GeneRIF:12783432 GeneRIF:12843244 GeneRIF:12847526 GeneRIF:12866199 GeneRIF:12870272 GeneRIF:12875980 GeneRIF:12915461 GeneRIF:12972170 GeneRIF:13129803 GeneRIF:13678668 GeneRIF:14506936 GeneRIF:14511332 GeneRIF:14596848 GeneRIF:14597108 GeneRIF:14642651 GeneRIF:14675609 GeneRIF:14676054 GeneRIF:14734542 GeneRIF:14970233 GeneRIF:14978393 GeneRIF:14985749 GeneRIF:14989597 GeneRIF:14991384 GeneRIF:15006704 GeneRIF:15019581 GeneRIF:15030390 GeneRIF:15033789 GeneRIF:15037546 GeneRIF:15048885 GeneRIF:15069187 GeneRIF:15076751 GeneRIF:15094483 GeneRIF:15106121 GeneRIF:15109247 GeneRIF:15126567 GeneRIF:15184633 GeneRIF:15233913 GeneRIF:15264227 GeneRIF:15313203 GeneRIF:15326253 GeneRIF:15330338 GeneRIF:15350647 GeneRIF:15388334 GeneRIF:15465081 GeneRIF:15475574 GeneRIF:15488469 GeneRIF:15509539 GeneRIF:15546588 GeneRIF:15557516 GeneRIF:15568021 GeneRIF:15623718 GeneRIF:15634772 GeneRIF:15652414 GeneRIF:15657392 GeneRIF:15657798 GeneRIF:15672551 GeneRIF:15691826 GeneRIF:15753080 GeneRIF:15776280 GeneRIF:15789135 GeneRIF:15829169 GeneRIF:15837590 GeneRIF:15910777 GeneRIF:15978558 GeneRIF:16005901 GeneRIF:16020530 GeneRIF:16114275 Guam Form of Amyotrophic Lateral Sclerosis Guam Form of Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011] ICD9:335.20 James Malone LOU GEHRIG DIS LOU GEHRIG DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011] LOU GEHRIGS DIS LOU GEHRIGS DIS[accessedResource: MSH:D000690][accessDate: 05-04-2011] Lateral Scleroses, Amyotrophic Lateral Scleroses, Amyotrophic[accessedResource: MSH:D000690][accessDate: 05-04-2011] Lou Gehrig Disease Lou Gehrig Disease[accessedResource: NCIt:C34373][accessDate: 05-04-2011] Lou Gehrig's Disease Lou Gehrig's disease[accessedResource: DOID:332][accessDate: 05-04-2011] Lou Gehrigs Disease Lou Gehrigs Disease[accessedResource: NIFSTD:birnlex_12566][accessDate: 05-04-2011] Lou-Gehrigs Disease Lou-Gehrigs Disease[accessedResource: MSH:D000690][accessDate: 05-04-2011] MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS MOTOR NEURON DIS AMYOTROPHIC LATERAL SCLEROSIS[accessedResource: MSH:D000690][accessDate: 05-04-2011] MSH:D000690 Motor Neuron Disease, Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis[accessedResource: MSH:D000690][accessDate: 05-04-2011] Motor neuron disease, bulbar NCIt:C34373 NIFSTD:birnlex_12566 OMIM:105500 SNOMEDCT:86044005 Sclerosis, Amyotrophic Lateral Sclerosis, Amyotrophic Lateral[accessedResource: MSH:D000690][accessDate: 05-04-2011] Tomasz Adamusiak motor neuron disease, bulbar[accessedResource: DOID:332][accessDate: 05-04-2011] true OMIM:105400 anal pad specific anlage FBbt:00005482 James Malone angioimmunoblastic T-cell lymphoma A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes. It occurs in the middle aged and elderly, with an equal incidence in males and females. The clinical course is typically aggressive. (WHO, 2001) A mature T-cell non-Hodgkin lymphoma, characterized by systemic disease and a polymorphous infiltrate involving lymph nodes. It occurs in the middle aged and elderly, with an equal incidence in males and females. The clinical course is typically aggressive. (WHO, 2001)[accessedResource: NCIt:C7528][accessDate: 05-04-2011] AILD AILD[accessedResource: NCIt:C7528][accessDate: 05-04-2011] AILT AILT[accessedResource: NCIt:C7528][accessDate: 05-04-2011] Angioimmunoblastic Lymphadenopathy Angioimmunoblastic Lymphadenopathy Type T-Cell Lymphoma Angioimmunoblastic Lymphadenopathy Type T-Cell Lymphoma[accessedResource: NCIt:C7528][accessDate: 05-04-2011] Angioimmunoblastic Lymphadenopathy with Dysproteinemia Angioimmunoblastic Lymphadenopathy with Dysproteinemia[accessedResource: NCIt:C7528][accessDate: 05-04-2011] Angioimmunoblastic Lymphadenopathy[accessedResource: NCIt:C7528][accessDate: 05-04-2011] James Malone NCIt:C7528 anlage in statu nascendi "anlagen in statu nascendi" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains. "anlagen in statu nascendi" are domains that do not yet coincide 1:1 with a later organ. Anlagen in statu nascendi are typically defined for the early blastoderm by the expression domains of genes which, in the late blastoderm or later, are expressed in specific anlagen, but initially come on in larger domains.[accessedResource: FBbt:00005413][accessDate: 05-04-2011] A0 FBbt:00005413 James Malone antennal primordium1 . .[accessedResource: FBbt:00005510][accessDate: 05-04-2011] AntP1 AntP2 FBbt:00005510 James Malone P3 AntOrg antennal primordium antennal primordium2 antennal primordium[accessedResource: FBbt:00005510][accessDate: 05-04-2011] antennal primordium2 FBbt:00005537 James Malone wing disc-derived cell-line wing disc-derived cell-line[accessedResource: FBbt:00005537][accessDate: 05-04-2011] anterior endoderm anlage Asn/A antEndo FBbt:00000210 James Malone anterior endoderm anlage in statu nascendi A0antEndo FBbt:00005418 James Malone anterior endoderm primordium FBbt:00005524 James Malone antEndoP2 anterior midgut primordium FBbt:00000444 James Malone P2 antEndoP antMGP2 anterior midgut inclusive primordium anterior midgut inclusive primordium[accessedResource: FBbt:00000444][accessDate: 05-04-2011] anterior spiracle specific anlage FBbt:00005487 James Malone antibody An antibody function (or antigen binding function) is an infection-fighting protein molecule in blood or secretory fluids that tags, neutralizes, and helps destroy pathogenic microorganisms such as bacteria, viruses and toxins. James Malone Jie Zheng MO_833 NIFSTD:birnlex_2110 Tomasz Adamusiak antibodies antibodies[accessedResource: NIFSTD:birnlex_2110][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#antibody obsolete_aorta Aorta, Ascending Aorta, Ascending[accessedResource: MSH:D001011][accessDate: 05-04-2011] Aortas Aortas, Ascending Aortas, Ascending[accessedResource: MSH:D001011][accessDate: 05-04-2011] Aortas[accessedResource: MSH:D001011][accessDate: 05-04-2011] Aortic Aortic[accessedResource: NCIt:C12669][accessDate: 05-04-2011] Ascending Aorta Ascending Aorta[accessedResource: MSH:D001011][accessDate: 05-04-2011] Ascending Aortas Ascending Aortas[accessedResource: MSH:D001011][accessDate: 05-04-2011] BTO:0000135 DA DA[accessedResource: ZFA:0000014][accessDate: 05-04-2011] EV:0100027 FBbt:00003153 FMAID:3734 James Malone MA:0000476 MAT:0000035 MSH:D001011 NCIt:C12669 Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery. Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery. Kimmel et al, 1995. Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery. Kimmel et al, 1995.[accessedResource: TAO:0000014][accessDate: 05-04-2011] Principal unpaired, median artery of the trunk, leading from the paired roots (radices) of the dorsal aorta to the caudal artery.[accessedResource: ZFA:0000014][accessDate: 05-04-2011] SAEL:6 TADS:0000154 TAO:0000014 The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body. The great arterial trunk that carries blood from the heart to be distributed by branch arteries through the body.[accessedResource: BTO:0000135][accessDate: 05-04-2011] The main trunk of the systemic arteries. The main trunk of the systemic arteries.[accessedResource: MSH:D001011][accessDate: 05-04-2011] The major arterial trunk that carries oxygenated blood from the left ventricle into the ascending aorta behind the heart, the aortic arch, through the thorax as the descending aorta and through the abdomen as the abdominal aorta; it bifurcates into the left and right common iliac arteries. The major arterial trunk that carries oxygenated blood from the left ventricle into the ascending aorta behind the heart, the aortic arch, through the thorax as the descending aorta and through the abdomen as the abdominal aorta; it bifurcates into the left and right common iliac arteries.[accessedResource: NCIt:C12669][accessDate: 05-04-2011] Tomasz Adamusiak Trunk of aortic tree[accessedResource: FMAID:3734][accessDate: 05-04-2011] Trunk of systemic arterial tree[accessedResource: FMAID:3734][accessDate: 05-04-2011] XAO:0003010 ZFA:0000014 adult aorta adult aorta[accessedResource: FBbt:00003153][accessDate: 05-04-2011] dorsal aorta dorsal aorta[accessedResource: TAO:0000014][accessDate: 05-04-2011] dorsal aortic root dorsal aortic root[accessedResource: ZFA:0000014][accessDate: 05-04-2011] true trunk of aortic tree trunk of systemic arterial tree 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000947 label: aorta aortic stenosis A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA. A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.[accessedResource: MSH:D001024][accessDate: 05-04-2011] AS AS - Aortic stenosis AS - Aortic stenosis[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011] AS[accessedResource: DOID:1712][accessDate: 05-04-2011] Aortic Valve Stenoses Aortic Valve Stenoses[accessedResource: MSH:D001024][accessDate: 05-04-2011] Aortic Valve Stenosis Aortic valve stenosis (disorder) Aortic valve stenosis (disorder)[accessedResource: DOID:1712][accessDate: 05-04-2011] Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS. Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS.[accessedResource: DOID:1712][accessDate: 05-04-2011] Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS. Aortic valve stenosis, NOS Aortic valve stenosis, NOS[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011] Aortic valve stenosis[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011] DOID:1712 GeneRIF:11903341 GeneRIF:14734048 GeneRIF:15311863 James Malone MSH:D001024 OMIM:109730 SNOMEDCT:60573004 Stenosed aortic valve Stenosed aortic valve[accessedResource: SNOMEDCT:60573004][accessDate: 05-04-2011] Stenoses, Aortic Stenoses, Aortic Valve Stenoses, Aortic Valve[accessedResource: MSH:D001024][accessDate: 05-04-2011] Stenoses, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011] Stenosis, Aortic Stenosis, Aortic Valve Stenosis, Aortic Valve[accessedResource: MSH:D001024][accessDate: 05-04-2011] Stenosis, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011] Tomasz Adamusiak Valve Stenoses, Aortic Valve Stenoses, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011] Valve Stenosis, Aortic Valve Stenosis, Aortic[accessedResource: MSH:D001024][accessDate: 05-04-2011] apical meristem A group of cells at the tip of the stem and root that give rise by cell division to the primary tissues and are ultimately responsible for the structural organization of the entire primary plant body. A group of cells at the tip of the stem and root that give rise by cell division to the primary tissues and are ultimately responsible for the structural organization of the entire primary plant body.[accessedResource: BTO:0000034][accessDate: 05-04-2011] BTO:0000034 GRO:0000231 James Malone apoptotic amnioserosa FBbt:00005556 James Malone array design An instrument design which describes the design of the array. James Malone asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety. A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.[accessedResource: DOID:2841][accessDate: 05-04-2011] A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways. A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.[accessedResource: NCIt:C28397][accessDate: 05-04-2011] A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL). A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).[accessedResource: MSH:D001249][accessDate: 05-04-2011] ASTHMA NOS W (AC) EXAC ASTHMA NOS W (AC) EXAC[accessedResource: ICD9:493.92][accessDate: 05-04-2011] Airway hyperreactivity Airway hyperreactivity[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011] Asthma (disorder) Asthma (disorder)[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011] Asthma NOS Asthma NOS (disorder) Asthma NOS (disorder)[accessedResource: SNOMEDCT:266365004][accessDate: 05-04-2011] Asthma NOS[accessedResource: SNOMEDCT:266365004][accessDate: 05-04-2011] Asthma unspecified Asthma unspecified (disorder) Asthma unspecified (disorder)[accessedResource: SNOMEDCT:195979001][accessDate: 05-04-2011] Asthma unspecified[accessedResource: SNOMEDCT:195979001][accessDate: 05-04-2011] Asthma, Bronchial Asthma, Bronchial[accessedResource: MSH:D001249][accessDate: 05-04-2011] Asthma, unspecified Asthma, unspecified type, with acute exacerbation Asthma, unspecified type, with acute exacerbation[accessedResource: ICD9:493.92][accessDate: 05-04-2011] Asthma, unspecified type, without mention of status asthmaticus Asthma, unspecified type, without mention of status asthmaticus[accessedResource: ICD9:493.90][accessDate: 05-04-2011] Asthma, unspecified[accessedResource: ICD9:493.9][accessDate: 05-04-2011] Asthmas Asthmas[accessedResource: MSH:D001249][accessDate: 05-04-2011] Asthmatic Asthmatic[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011] BHR - Bronchial hyperreactivity BHR - Bronchial hyperreactivity[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011] Bronchial Asthma[accessedResource: MSH:D001249][accessDate: 05-04-2011] Bronchial Hyperreactivities Bronchial Hyperreactivities[accessedResource: MSH:D016535][accessDate: 05-04-2011] Bronchial Hyperreactivity[accessedResource: MSH:D016535][accessDate: 05-04-2011] Bronchial asthma Bronchial hyperreactivity Bronchial hyperresponsiveness Bronchial hyperresponsiveness[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011] Bronchial hypersensitivity Bronchial hypersensitivity[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011] DOID:2841 DUST PNEUMONOPATHY NEC DUST PNEUMONOPATHY NEC[accessedResource: ICD9:504][accessDate: 05-04-2011] Exercise induced asthma Exercise induced asthma[accessedResource: DOID:2841][accessDate: 05-04-2011] Exercise-induced asthma Exercise-induced asthma (disorder) Exercise-induced asthma (disorder)[accessedResource: DOID:2841][accessDate: 05-04-2011] GeneRIF:11466391 GeneRIF:11466392 GeneRIF:11668616 GeneRIF:11692107 GeneRIF:11692112 GeneRIF:11709756 GeneRIF:11710537 GeneRIF:11725301 GeneRIF:11744622 GeneRIF:11786643 GeneRIF:11801688 GeneRIF:11813133 GeneRIF:11839568 GeneRIF:11842292 GeneRIF:11842300 GeneRIF:11896460 GeneRIF:11897983 GeneRIF:11898000 GeneRIF:11907117 GeneRIF:11907124 GeneRIF:11912176 GeneRIF:11940068 GeneRIF:11953202 GeneRIF:11956218 GeneRIF:11972486 GeneRIF:11972612 GeneRIF:11994485 GeneRIF:12045241 GeneRIF:12047364 GeneRIF:12063521 GeneRIF:12063528 GeneRIF:12077275 GeneRIF:12083965 GeneRIF:12091169 GeneRIF:12091879 GeneRIF:12110844 GeneRIF:12145647 GeneRIF:12165540 GeneRIF:12170265 GeneRIF:12204872 GeneRIF:12204890 GeneRIF:12209087 GeneRIF:12225952 GeneRIF:12234263 GeneRIF:12237016 GeneRIF:12325261 GeneRIF:12370400 GeneRIF:12373000 GeneRIF:12376349 GeneRIF:12396623 GeneRIF:12406828 GeneRIF:12482203 GeneRIF:12524255 GeneRIF:12530117 GeneRIF:12530118 GeneRIF:12530121 GeneRIF:12568496 GeneRIF:12575459 GeneRIF:12594058 GeneRIF:12620968 GeneRIF:12626595 GeneRIF:12642833 GeneRIF:12646606 GeneRIF:12671058 GeneRIF:12672051 GeneRIF:12682233 GeneRIF:12730147 GeneRIF:12751728 GeneRIF:12754192 GeneRIF:12754510 GeneRIF:12774669 GeneRIF:12789231 GeneRIF:12794006 GeneRIF:12813022 GeneRIF:12847242 GeneRIF:12847279 GeneRIF:12861851 GeneRIF:12876407 GeneRIF:12897738 GeneRIF:12897754 GeneRIF:12900517 GeneRIF:12915771 GeneRIF:12915772 GeneRIF:12938094 GeneRIF:14520724 GeneRIF:14564349 GeneRIF:14564352 GeneRIF:14597484 GeneRIF:14610476 GeneRIF:14633511 GeneRIF:14657864 GeneRIF:14657873 GeneRIF:14682393 GeneRIF:14692664 GeneRIF:14707054 GeneRIF:14718253 GeneRIF:14734765 GeneRIF:14734780 GeneRIF:14754534 GeneRIF:14761934 GeneRIF:14764726 GeneRIF:15003938 GeneRIF:15007350 GeneRIF:15007351 GeneRIF:15007353 GeneRIF:15020290 GeneRIF:15039137 GeneRIF:15051937 GeneRIF:15059478 GeneRIF:15059480 GeneRIF:15059493 GeneRIF:15066132 GeneRIF:15073379 GeneRIF:15087305 GeneRIF:15100674 GeneRIF:15105161 GeneRIF:15115168 GeneRIF:15131571 GeneRIF:15148962 GeneRIF:15153795 GeneRIF:15179560 GeneRIF:15192232 GeneRIF:15201134 GeneRIF:15207712 GeneRIF:15223611 GeneRIF:15282199 GeneRIF:15282200 GeneRIF:15300848 GeneRIF:15318163 GeneRIF:15345705 GeneRIF:15356557 GeneRIF:15356558 GeneRIF:15356575 GeneRIF:15454733 GeneRIF:15467329 GeneRIF:15478389 GeneRIF:15496624 GeneRIF:15528385 GeneRIF:15531759 GeneRIF:15548573 GeneRIF:15557163 GeneRIF:15579447 GeneRIF:15585884 GeneRIF:15602630 GeneRIF:15604153 GeneRIF:15612961 GeneRIF:15634264 GeneRIF:15677460 GeneRIF:15696078 GeneRIF:15696081 GeneRIF:15709049 GeneRIF:15710598 GeneRIF:15722346 GeneRIF:15723126 GeneRIF:15743779 GeneRIF:15744536 GeneRIF:15764725 GeneRIF:15817799 GeneRIF:15853952 GeneRIF:15879427 GeneRIF:15941840 GeneRIF:15944327 GeneRIF:15947423 GeneRIF:15961692 GeneRIF:15976383 GeneRIF:15988535 GeneRIF:16000330 GeneRIF:16021473 GeneRIF:16024972 GeneRIF:16026590 GeneRIF:16027362 GeneRIF:16034130 GeneRIF:16036415 GeneRIF:16043121 GeneRIF:16081038 GeneRIF:16081847 GeneRIF:16098057 GeneRIF:16115819 GeneRIF:16123393 GeneRIF:16143586 GeneRIF:16148052 GeneRIF:16150927 GeneRIF:16168397 GeneRIF:16210640 GeneRIF:16215326 GeneRIF:16236836 GeneRIF:16236890 GeneRIF:16304252 Hyperreactive airway disease Hyperreactive airway disease[accessedResource: SNOMEDCT:195967001][accessDate: 05-04-2011] Hyperreactive airways disease Hyperreactive airways disease[accessedResource: SNOMEDCT:195979001][accessDate: 05-04-2011] Hyperreactivities, Bronchial Hyperreactivities, Bronchial[accessedResource: MSH:D016535][accessDate: 05-04-2011] Hyperreactivity, Bronchial Hyperreactivity, Bronchial[accessedResource: MSH:D016535][accessDate: 05-04-2011] ICD9:493 ICD9:493.8 ICD9:493.9 ICD9:493.90 ICD9:493.92 ICD9:504 James Malone MSH:D001249 MSH:D016535 NCIt:C28397 OMIM:600807 Other forms of asthma Other forms of asthma[accessedResource: ICD9:493.8][accessDate: 05-04-2011] Pneumonopathy due to inhalation of other dust Pneumonopathy due to inhalation of other dust[accessedResource: ICD9:504][accessDate: 05-04-2011] Pneumopathy due to inhalation of other dust Pneumopathy due to inhalation of other dust (disorder) Pneumopathy due to inhalation of other dust (disorder)[accessedResource: SNOMEDCT:196013003][accessDate: 05-04-2011] Pneumopathy due to inhalation of other dust NOS Pneumopathy due to inhalation of other dust NOS (disorder) Pneumopathy due to inhalation of other dust NOS (disorder)[accessedResource: SNOMEDCT:196015005][accessDate: 05-04-2011] Pneumopathy due to inhalation of other dust NOS[accessedResource: SNOMEDCT:196015005][accessDate: 05-04-2011] Pneumopathy due to inhalation of other dust[accessedResource: SNOMEDCT:196013003][accessDate: 05-04-2011] SNOMEDCT:195967001 SNOMEDCT:195979001 SNOMEDCT:196013003 SNOMEDCT:196015005 SNOMEDCT:266365004 Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory. Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.[accessedResource: MSH:D016535][accessDate: 05-04-2011] Tomasz Adamusiak chronic obstructive asthma chronic obstructive asthma with acute exacerbation chronic obstructive asthma with acute exacerbation[accessedResource: DOID:2841][accessDate: 05-04-2011] chronic obstructive asthma with status asthmaticus chronic obstructive asthma with status asthmaticus[accessedResource: DOID:2841][accessDate: 05-04-2011] chronic obstructive asthma[accessedResource: DOID:2841][accessDate: 05-04-2011] exercise-induced asthma[accessedResource: DOID:2841][accessDate: 05-04-2011] true obsolete_astrocytic tumor 1.5 A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. DOID:3069 Duplicate with astrocytic tumor (EFO_0000272) GeneRIF:11783119 GeneRIF:11836615 GeneRIF:11922706 GeneRIF:11958417 GeneRIF:12023424 GeneRIF:12077339 GeneRIF:12111824 GeneRIF:12133571 GeneRIF:12168116 GeneRIF:12185598 GeneRIF:12203396 GeneRIF:12237771 GeneRIF:12385586 GeneRIF:12393263 GeneRIF:12435805 GeneRIF:12519873 GeneRIF:12740910 GeneRIF:12747804 GeneRIF:12819022 GeneRIF:12829373 GeneRIF:12850541 GeneRIF:12916719 GeneRIF:14603438 GeneRIF:14654927 GeneRIF:14729615 GeneRIF:15178645 GeneRIF:15289301 GeneRIF:15494521 GeneRIF:15643521 GeneRIF:15652402 GeneRIF:15799819 GeneRIF:15902504 GeneRIF:15973775 GeneRIF:16103883 James Malone MSH:D001254 NCIt:C6958 Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) SNOMEDCT:254938000 SNOMEDCT:38713004 true astrocytoma A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma. A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.[accessedResource: NCIt:C6958][accessDate: 05-04-2011] Anaplastic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Anaplastic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytic Glioma Astrocytic Glioma[accessedResource: NIFSTD:birnlex_12619][accessDate: 05-04-2011] Astrocytic Gliomas Astrocytic Gliomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytic Neoplasm Astrocytic Neoplasm[accessedResource: NCIt:C6958][accessDate: 05-04-2011] Astrocytic Tumor Astrocytic Tumor[accessedResource: NCIt:C6958][accessDate: 05-04-2011] Astrocytic tumor of brain Astrocytic tumor of brain[accessedResource: SNOMEDCT:254938000][accessDate: 05-04-2011] Astrocytic tumour of brain Astrocytic tumour of brain[accessedResource: SNOMEDCT:254938000][accessDate: 05-04-2011] Astrocytoma of brain Astrocytoma of brain (disorder) Astrocytoma of brain[accessedResource: SNOMEDCT:254938000][accessDate: 05-04-2011] Astrocytoma, Anaplastic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Cerebral Astrocytoma, Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Childhood Cerebral Astrocytoma, Childhood Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Fibrillary Astrocytoma, Fibrillary[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Gemistocytic Astrocytoma, Gemistocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Grade I Astrocytoma, Grade II Astrocytoma, Grade III Astrocytoma, Grade III[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Grade II[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Grade I[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Intracranial Astrocytoma, Intracranial[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Juvenile Pilocytic Astrocytoma, Juvenile Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, NOS Astrocytoma, NOS[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011] Astrocytoma, Pilocytic Astrocytoma, Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Protoplasmic Astrocytoma, Protoplasmic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, Subependymal Giant Cell Astrocytoma, Subependymal Giant Cell[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytoma, low grade Astrocytoma, low grade[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011] Astrocytoma, no ICD-O subtype Astrocytoma, no ICD-O subtype[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011] Astrocytomas Astrocytomas, Anaplastic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Cerebral Astrocytomas, Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Childhood Cerebral Astrocytomas, Childhood Cerebral[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Fibrillary Astrocytomas, Fibrillary[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Gemistocytic Astrocytomas, Gemistocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Grade I Astrocytomas, Grade II Astrocytomas, Grade III Astrocytomas, Grade III[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Grade II[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Grade I[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Intracranial Astrocytomas, Intracranial[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Juvenile Pilocytic Astrocytomas, Juvenile Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Pilocytic Astrocytomas, Pilocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas, Protoplasmic Astrocytomas, Protoplasmic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Astroglioma[accessedResource: NIFSTD:birnlex_12619][accessDate: 05-04-2011] Astrogliomas Astrogliomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Cerebral Astrocytoma Cerebral Astrocytoma, Childhood Cerebral Astrocytoma, Childhood[accessedResource: MSH:D001254][accessDate: 05-04-2011] Cerebral Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Cerebral Astrocytomas Cerebral Astrocytomas, Childhood Cerebral Astrocytomas, Childhood[accessedResource: MSH:D001254][accessDate: 05-04-2011] Cerebral Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Childhood Cerebral Astrocytoma Childhood Cerebral Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Childhood Cerebral Astrocytomas Childhood Cerebral Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Cystic astrocytoma Cystic astrocytoma[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011] DOID:3069 Diffuse astrocytoma Diffuse astrocytoma, low grade Diffuse astrocytoma, low grade[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011] Diffuse astrocytoma[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011] Fibrillary Astrocytoma Fibrillary Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Fibrillary Astrocytomas Fibrillary Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Gemistocytic Astrocytoma Gemistocytic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Gemistocytic Astrocytomas Gemistocytic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] GeneRIF:11783119 GeneRIF:11836615 GeneRIF:11922706 GeneRIF:11958417 GeneRIF:12023424 GeneRIF:12077339 GeneRIF:12111824 GeneRIF:12133571 GeneRIF:12168116 GeneRIF:12185598 GeneRIF:12203396 GeneRIF:12237771 GeneRIF:12385586 GeneRIF:12393263 GeneRIF:12435805 GeneRIF:12519873 GeneRIF:12740910 GeneRIF:12747804 GeneRIF:12819022 GeneRIF:12829373 GeneRIF:12850541 GeneRIF:12916719 GeneRIF:14603438 GeneRIF:14654927 GeneRIF:14729615 GeneRIF:15178645 GeneRIF:15289301 GeneRIF:15494521 GeneRIF:15643521 GeneRIF:15652402 GeneRIF:15799819 GeneRIF:15902504 GeneRIF:15973775 GeneRIF:16103883 Glioma, Astrocytic Glioma, Astrocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Gliomas, Astrocytic Gliomas, Astrocytic[accessedResource: MSH:D001254][accessDate: 05-04-2011] Grade I Astrocytoma Grade I Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Grade I Astrocytomas Grade I Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Grade II Astrocytoma Grade II Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Grade II Astrocytomas Grade II Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Grade III Astrocytoma Grade III Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Grade III Astrocytomas Grade III Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Intracranial Astrocytoma Intracranial Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Intracranial Astrocytomas Intracranial Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] James Malone Juvenile Pilocytic Astrocytoma Juvenile Pilocytic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Juvenile Pilocytic Astrocytomas Juvenile Pilocytic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] MSH:D001254 Mixed Oligoastrocytoma Mixed Oligoastrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Mixed Oligoastrocytomas Mixed Oligoastrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] NCIt:C6958 NIFSTD:birnlex_12619 Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH). Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation (MeSH).[accessedResource: NIFSTD:birnlex_12619][accessDate: 05-04-2011] Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082) Neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. Fibrillary astrocytomas are the most common type and may be classified in order of increasing malignancy (grades I through IV). In the first two decades of life, astrocytomas tend to originate in the cerebellar hemispheres; in adults, they most frequently arise in the cerebrum and frequently undergo malignant transformation. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2013-7; Holland et al., Cancer Medicine, 3d ed, p1082)[accessedResource: MSH:D001254][accessDate: 05-04-2011] Oligoastrocytoma, Mixed Oligoastrocytoma, Mixed[accessedResource: MSH:D001254][accessDate: 05-04-2011] Oligoastrocytomas, Mixed Oligoastrocytomas, Mixed[accessedResource: MSH:D001254][accessDate: 05-04-2011] Pilocytic Astrocytoma Pilocytic Astrocytoma, Juvenile Pilocytic Astrocytoma, Juvenile[accessedResource: MSH:D001254][accessDate: 05-04-2011] Pilocytic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Pilocytic Astrocytomas Pilocytic Astrocytomas, Juvenile Pilocytic Astrocytomas, Juvenile[accessedResource: MSH:D001254][accessDate: 05-04-2011] Pilocytic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] Protoplasmic Astrocytoma Protoplasmic Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Protoplasmic Astrocytomas Protoplasmic Astrocytomas[accessedResource: MSH:D001254][accessDate: 05-04-2011] SNOMEDCT:254938000 SNOMEDCT:38713004 Subependymal Giant Cell Astrocytoma Subependymal Giant Cell Astrocytoma[accessedResource: MSH:D001254][accessDate: 05-04-2011] Tomasz Adamusiak [M]Astrocytoma NOS [M]Astrocytoma NOS[accessedResource: SNOMEDCT:38713004][accessDate: 05-04-2011] astrocytoma of brain (disorder)[accessedResource: DOID:3069][accessDate: 05-04-2011] astrocytoma, no ICD-O subtype (morphologic abnormality) astrocytoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3069][accessDate: 05-04-2011] astroglioma atmosphere James Malone Jie Zheng MO_498 The atmospheric conditions used to culture or grow an organism. Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#atmosphere atopic eczema A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema. A chronic inflammatory genetically determined disease of the skin marked by increased ability to form reagin (IgE), with increased susceptibility to allergic rhinitis and asthma, and hereditary disposition to a lowered threshold for pruritus. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. In infants it is known as infantile eczema.[accessedResource: MSH:D003876][accessDate: 05-04-2011] Atopic Dermatitides Atopic Dermatitides[accessedResource: MSH:D003876][accessDate: 05-04-2011] Atopic Dermatitis Atopic Dermatitis[accessedResource: MSH:D003876][accessDate: 05-04-2011] Atopic Neurodermatitides Atopic Neurodermatitides[accessedResource: MSH:D003876][accessDate: 05-04-2011] Atopic Neurodermatitis Atopic Neurodermatitis[accessedResource: MSH:D003876][accessDate: 05-04-2011] Atopic dermatitis and related conditions (disorder) Atopic dermatitis and related conditions (disorder)[accessedResource: SNOMEDCT:200769008][accessDate: 05-04-2011] Atopic dermatitis and related conditions[accessedResource: ICD9:691][accessDate: 05-04-2011] DOID:2771 Dermatitides, Atopic Dermatitides, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011] Dermatitis, Atopic Dermatitis, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011] Disseminated Neurodermatitides Disseminated Neurodermatitides[accessedResource: MSH:D003876][accessDate: 05-04-2011] Disseminated Neurodermatitis Disseminated Neurodermatitis[accessedResource: MSH:D003876][accessDate: 05-04-2011] Eczema, Atopic Eczema, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011] Eczema, Infantile Eczema, Infantile[accessedResource: MSH:D003876][accessDate: 05-04-2011] ICD9:691 ICD9:691.8 Infantile Eczema Infantile Eczema[accessedResource: MSH:D003876][accessDate: 05-04-2011] James Malone MSH:D003876 Neurodermatitides, Atopic Neurodermatitides, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011] Neurodermatitides, Disseminated Neurodermatitides, Disseminated[accessedResource: MSH:D003876][accessDate: 05-04-2011] Neurodermatitis, Atopic Neurodermatitis, Atopic[accessedResource: MSH:D003876][accessDate: 05-04-2011] Neurodermatitis, Disseminated Neurodermatitis, Disseminated[accessedResource: MSH:D003876][accessDate: 05-04-2011] OMIM:603165 OTHER ATOPIC DERMATITIS OTHER ATOPIC DERMATITIS[accessedResource: ICD9:691.8][accessDate: 05-04-2011] Other atopic dermatitis and related conditions Other atopic dermatitis and related conditions[accessedResource: ICD9:691.8][accessDate: 05-04-2011] SNOMEDCT:200769008 Tomasz Adamusiak atopic dermatitis and related conditions true atrial fibrillation AF - Atrial fibrillation AF - Atrial fibrillation[accessedResource: SNOMEDCT:49436004][accessDate: 05-04-2011] Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation. Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA). In such case, blood cannot be effectively pumped into the lower chambers of the heart (HEART VENTRICLES). It is caused by abnormal impulse generation.[accessedResource: MSH:D001281][accessDate: 05-04-2011] Atrial Fibrillations Atrial Fibrillations[accessedResource: MSH:D001281][accessDate: 05-04-2011] Atrial fibrillation (disorder) Atrial fibrillation (disorder)[accessedResource: SNOMEDCT:49436004][accessDate: 05-04-2011] Auricular Fibrillation Auricular Fibrillation[accessedResource: MSH:D001281][accessDate: 05-04-2011] Auricular Fibrillations Auricular Fibrillations[accessedResource: MSH:D001281][accessDate: 05-04-2011] DOID:11276 Fibrillation, Atrial Fibrillation, Atrial[accessedResource: MSH:D001281][accessDate: 05-04-2011] Fibrillation, Auricular Fibrillation, Auricular[accessedResource: MSH:D001281][accessDate: 05-04-2011] Fibrillations, Atrial Fibrillations, Atrial[accessedResource: MSH:D001281][accessDate: 05-04-2011] Fibrillations, Auricular Fibrillations, Auricular[accessedResource: MSH:D001281][accessDate: 05-04-2011] GeneRIF:11748095 GeneRIF:11839628 GeneRIF:11956217 GeneRIF:12089346 GeneRIF:12093745 GeneRIF:12154005 GeneRIF:12205093 GeneRIF:12228786 GeneRIF:12522251 GeneRIF:12554751 GeneRIF:12607777 GeneRIF:12808105 GeneRIF:12824162 GeneRIF:12920062 GeneRIF:14574075 GeneRIF:14651967 GeneRIF:14652651 GeneRIF:14678810 GeneRIF:15023884 GeneRIF:15028053 GeneRIF:15249499 GeneRIF:15289369 GeneRIF:15297374 GeneRIF:15368194 GeneRIF:15459252 GeneRIF:15467744 GeneRIF:15610520 GeneRIF:15671429 GeneRIF:15705965 GeneRIF:15922306 GeneRIF:16301177 GeneRIF:16377932 GeneRIF:9722616 ICD9:427.31 James Malone MSH:D001281 SNOMEDCT:49436004 true obsolete_atrioventricular node 2.38 A small mass of specialized cardiac muscle fibers, located near the ostium of the coronary sinus and giving rise to the atrioventricular bundle of the conduction system of the heart. A small mass of specialized cardiac muscle fibers, located near the ostium of the coronary sinus and giving rise to the atrioventricular bundle of the conduction system of the heart.[accessedResource: NCIt:C32161][accessDate: 05-04-2011] A-V Node A-V Node[accessedResource: NCIt:C32161][accessDate: 05-04-2011] AV nodal muscle tissue AV nodal muscle tissue[accessedResource: FMAID:9478][accessDate: 05-04-2011] AV node AV node[accessedResource: FMAID:9478][accessDate: 05-04-2011] Aschoff-Tawara node Aschoff-Tawara node[accessedResource: FMAID:9478][accessDate: 05-04-2011] Atrioventricular nodal muscle tissue Atrioventricular nodal muscle tissue[accessedResource: FMAID:9478][accessDate: 05-04-2011] FMAID:9478 James Malone MA:0000095 MAT:0000498 NCIt:C32161 Node of Tawara Node of Tawara[accessedResource: FMAID:9478][accessDate: 05-04-2011] Portion of the somite giving rise to body wall muscle masses. Portion of the somite giving rise to body wall muscle masses.[accessedResource: ZFA:0000044][accessDate: 05-04-2011] Subdivision of conducting system of heart which is located in the muscular part of the interatrial septum that is continuous with the atrioventricular bundle. TAO:0005070 Use http://purl.obolibrary.org/obo/UBERON_0002352 label: atrioventricular node ZFA:0000044 atriovetricular node atriovetricular node[accessedResource: TAO:0005070][accessDate: 05-04-2011] myotome somite 14 myotome somite 14[accessedResource: ZFA:0000044][accessDate: 05-04-2011] true obsolete_cardiac atrium BTO:0000903 EHDAA:1265 EMAPA:16688 EV:0100018 FMAID:85574 General anatomical term which refers to a chamber or cavity to which are connected one or more chambers or passageways. Examples: right atrium of heart, atrium of middle nasal meatus, atrium of tympanic cavity, atrium of alveolus. In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body. In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body.[accessedResource: BTO:0000903][accessDate: 05-04-2011] James Malone MA:0000073 MAT:0000496 MFO:0080900 MSH:D006325 Most anterior stretch of the embryonic/larval foregut. Its posterior boundary, where the pharynx starts is immediately posterior to the openings of the salivary gland ducts. Most anterior stretch of the embryonic/larval foregut. Its posterior boundary, where the pharynx starts is immediately posterior to the openings of the salivary gland ducts.[accessedResource: FBbt:00005615][accessDate: 05-04-2011] One of four heart chambers. One of four heart chambers.[accessedResource: TAO:0000471][accessDate: 05-04-2011] TAO:0000471 The paired upper chambers of the heart. The left atrium receives oxygenated blood from the pulmonary vein and pumps blood into the left ventricle. The right atrium receives venous deoxygenated blood from the entire body via the superior and inferior vena cavae and pumps blood into the right ventricle. ZFA0000471 atrial tissue heart atria heart atrium true true Use http://purl.obolibrary.org/obo/UBERON_0002081 Label: cardiac atrium 2.38 pancreatitis DOID:4989 GeneRIF:11462247 GeneRIF:11702203 GeneRIF:11825647 GeneRIF:11961487 GeneRIF:12011155 GeneRIF:12120224 GeneRIF:12227654 GeneRIF:12360463 GeneRIF:12360464 GeneRIF:12401800 GeneRIF:12765848 GeneRIF:12825076 GeneRIF:14526128 GeneRIF:14688470 GeneRIF:14762792 GeneRIF:15184081 GeneRIF:15215328 GeneRIF:15237442 GeneRIF:15316224 GeneRIF:15458925 GeneRIF:15572849 GeneRIF:15775704 GeneRIF:15786540 GeneRIF:16038043 GeneRIF:16230078 INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis. INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.[accessedResource: MSH:D010195][accessDate: 05-04-2011] Inflammation of the pancreas. Inflammation of the pancreas.[accessedResource: NCIt:C3306][accessDate: 05-04-2011] James Malone MSH:D010195 NCIt:C3306 Pancreatitides Pancreatitides[accessedResource: MSH:D010195][accessDate: 05-04-2011] Pancreatitis (disorder) Pancreatitis (disorder)[accessedResource: SNOMEDCT:75694006][accessDate: 05-04-2011] Pancreatitis NOS Pancreatitis NOS[accessedResource: DOID:4989][accessDate: 05-04-2011] Pancreatitis, NOS Pancreatitis, NOS[accessedResource: SNOMEDCT:75694006][accessDate: 05-04-2011] SNOMEDCT:75694006 azoospermia A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen. A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.[accessedResource: MSH:D009845][accessDate: 05-04-2011] Azoospermia (finding) Azoospermia (finding)[accessedResource: DOID:14227][accessDate: 05-04-2011] Count, Low Sperm Count, Low Sperm[accessedResource: MSH:D009845][accessDate: 05-04-2011] Counts, Low Sperm Counts, Low Sperm[accessedResource: MSH:D009845][accessDate: 05-04-2011] DOID:14227 GeneRIF:11499325 GeneRIF:11869379 GeneRIF:12161499 GeneRIF:12366783 GeneRIF:12399527 GeneRIF:12399529 GeneRIF:12634316 GeneRIF:15044259 GeneRIF:15064832 GeneRIF:15220464 GeneRIF:15253135 GeneRIF:15379971 GeneRIF:16123080 GeneRIF:16213863 GeneRIF:16275267 ICD9:606.0 James Malone Low Sperm Count Low Sperm Count[accessedResource: MSH:D009845][accessDate: 05-04-2011] Low Sperm Counts Low Sperm Counts[accessedResource: MSH:D009845][accessDate: 05-04-2011] MSH:D009845 Oligospermia Oligospermia[accessedResource: MSH:D009845][accessDate: 05-04-2011] Oligozoospermia Oligozoospermia[accessedResource: MSH:D009845][accessDate: 05-04-2011] Sperm Count, Low Sperm Count, Low[accessedResource: MSH:D009845][accessDate: 05-04-2011] Sperm Counts, Low Sperm Counts, Low[accessedResource: MSH:D009845][accessDate: 05-04-2011] true Barrett's esophagus (ulcerative esophagitis) or (Barrett's esophagus) (ulcerative esophagitis) or (Barrett's esophagus)[accessedResource: DOID:9206][accessDate: 05-04-2011] A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus. A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.[accessedResource: MSH:D001471][accessDate: 05-04-2011] Barrett Epithelium Barrett Epithelium[accessedResource: MSH:D001471][accessDate: 05-04-2011] Barrett Esophagus Barrett Esophagus[accessedResource: MSH:D001471][accessDate: 05-04-2011] Barrett Syndrome Barrett Syndrome[accessedResource: MSH:D001471][accessDate: 05-04-2011] Barrett's Syndrome Barrett's Syndrome[accessedResource: MSH:D001471][accessDate: 05-04-2011] Barrett's esophagus (disorder) Barrett's esophagus (disorder) [Ambiguous] Barrett's esophagus (disorder) [Ambiguous][accessedResource: DOID:9206][accessDate: 05-04-2011] Barrett's esophagus (disorder)[accessedResource: DOID:9206][accessDate: 05-04-2011] Barrett's esophagus with esophagitis (disorder) Barrett's esophagus with esophagitis (disorder)[accessedResource: DOID:9206][accessDate: 05-04-2011] Barrett's oesophagus Barrett's oesophagus[accessedResource: DOID:9206][accessDate: 05-04-2011] Barrett's ulcer of esophagus (disorder) Barrett's ulcer of esophagus (disorder)[accessedResource: DOID:9206][accessDate: 05-04-2011] Barretts Esophagus Barretts Esophagus[accessedResource: MSH:D001471][accessDate: 05-04-2011] Barretts syndrome Barretts syndrome[accessedResource: DOID:9206][accessDate: 05-04-2011] CLE CLE[accessedResource: DOID:9206][accessDate: 05-04-2011] DOID:9206 Epithelium, Barrett Epithelium, Barrett[accessedResource: MSH:D001471][accessDate: 05-04-2011] Esophagus, Barrett Esophagus, Barrett's Esophagus, Barrett's[accessedResource: MSH:D001471][accessDate: 05-04-2011] Esophagus, Barrett[accessedResource: MSH:D001471][accessDate: 05-04-2011] GeneRIF:11857318 GeneRIF:14576477 GeneRIF:15013707 GeneRIF:15041721 GeneRIF:15167938 GeneRIF:15231484 GeneRIF:15716603 GeneRIF:15810620 GeneRIF:15824739 GeneRIF:15878911 GeneRIF:15967118 GeneRIF:16291394 ICD9:530.85 James Malone MSH:D001471 Syndrome, Barrett Syndrome, Barrett's Syndrome, Barrett's[accessedResource: MSH:D001471][accessDate: 05-04-2011] Syndrome, Barrett[accessedResource: MSH:D001471][accessDate: 05-04-2011] basal-like carcinoma James Malone Tomasz Adamusiak basal breast tumor is a high grade, triple-negative breast tumor, i.e. they express no estrogen receptor, progesterone receptor nor Her2/neu proteins. wikipedia:http://en.wikipedia.org/wiki/Basal-like_carcinoma behavioral stimulus A treatment applied to a sample where some behaviour is expected as a result e.g. avoidance James Malone Jie Zheng MO_674 Tomasz Adamusiak avoidance behavioral_stimulus behavioral_stimulus[accessedResource: MO_674][accessDate: 05-04-2011] behavioural stimulus http://mged.sourceforge.net/ontologies/MGEDOntology.owl#behavioral_stimulus benign prostatic hyperplasia A disease caused by hyperplastic process of non-transformed prostatic cells. A disease caused by hyperplastic process of non-transformed prostatic cells.[accessedResource: MSH:D011470][accessDate: 05-04-2011] A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow. A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.[accessedResource: NCIt:C2897][accessDate: 05-04-2011] Adenofibromatous hypertrophy of prostate Adenofibromatous hypertrophy of prostate, NOS Adenofibromatous hypertrophy of prostate, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Adenofibromatous hypertrophy of prostate[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Adenoma, Prostatic Adenoma, Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011] Adenomas, Prostatic Adenomas, Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011] Adenomyomatous hyperplasia of prostate gland Adenomyomatous hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] BEP - Benign enlargement of prostate BEP - Benign enlargement of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] BPH BPH - Benign prostatic hypertrophy BPH - Benign prostatic hypertrophy[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] BPH[accessedResource: NCIt:C2897][accessDate: 05-04-2011] Benign Hyperplasia of Prostate Benign Hyperplasia of Prostate[accessedResource: NCIt:C2897][accessDate: 05-04-2011] Benign Hyperplasia of the Prostate Benign Hyperplasia of the Prostate[accessedResource: NCIt:C2897][accessDate: 05-04-2011] Benign Prostate Hyperplasia Benign Prostate Hyperplasia[accessedResource: NCIt:C2897][accessDate: 05-04-2011] Benign Prostatic Hyperplasia - BPH Benign Prostatic Hyperplasia - BPH[accessedResource: NCIt:C2897][accessDate: 05-04-2011] Benign Prostatic Hypertrophy[accessedResource: MSH:D011470][accessDate: 05-04-2011] Benign adenoma of prostate Benign adenoma of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] Benign enlargement of prostate Benign enlargement of prostate, NOS Benign enlargement of prostate, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Benign enlargement of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] Benign fibroma of prostate Benign fibroma of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] Benign myoma of prostate Benign myoma of prostate[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] Benign prostatic hyperplasia (disorder) Benign prostatic hyperplasia (disorder)[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] Benign prostatic hyperplasia, NOS Benign prostatic hyperplasia, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] DOID:11131 Enlarged prostate - benign Fibromuscular hyperplasia of prostate gland Fibromuscular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] GeneRIF:11550212 GeneRIF:12111701 GeneRIF:12111704 GeneRIF:12142541 GeneRIF:12399530 GeneRIF:12530058 GeneRIF:12552318 GeneRIF:12595443 GeneRIF:12673556 GeneRIF:12771801 GeneRIF:14604900 GeneRIF:14678983 GeneRIF:15083213 GeneRIF:15129425 GeneRIF:15136785 GeneRIF:15178433 GeneRIF:15314639 GeneRIF:15492805 GeneRIF:15515049 GeneRIF:15599946 GeneRIF:15611997 GeneRIF:15621731 GeneRIF:15678497 GeneRIF:15999119 GeneRIF:16018939 GeneRIF:16114059 Glandular, stromal AND/OR muscular hyperplasia of prostate gland Glandular, stromal AND/OR muscular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Glandular, stromal and muscular hyperplasia of prostate gland Glandular, stromal and muscular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Hyperplasia of prostate Hyperplasia of prostate (disorder) Hyperplasia of prostate (disorder)[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Hyperplasia of prostate, NOS Hyperplasia of prostate, NOS[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Hyperplasia of prostate[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Hyperplasia, Prostatic Hyperplasia, Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011] Hypertrophy (benign) of prostate Hypertrophy (benign) of prostate[accessedResource: ICD9:600.0][accessDate: 05-04-2011] Hypertrophy, Benign Prostatic Hypertrophy, Benign Prostatic[accessedResource: MSH:D011470][accessDate: 05-04-2011] ICD9:600.0 Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both. Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.[accessedResource: MSH:D011470][accessDate: 05-04-2011] James Malone Lobular hyperplasia of prostate gland Lobular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] MSH:D011470 NCIt:C2897 Nodular hyperplasia of prostate gland Nodular hyperplasia of prostate gland[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] OMIM:600082 Prostatauxe Prostatauxe[accessedResource: SNOMEDCT:367483003][accessDate: 05-04-2011] Prostatic Adenoma Prostatic Adenoma[accessedResource: MSH:D011470][accessDate: 05-04-2011] Prostatic Adenomas Prostatic Adenomas[accessedResource: MSH:D011470][accessDate: 05-04-2011] Prostatic Hyperplasia Prostatic Hyperplasia, Benign Prostatic Hyperplasia, Benign[accessedResource: MSH:D011470][accessDate: 05-04-2011] Prostatic Hyperplasia[accessedResource: MSH:D011470][accessDate: 05-04-2011] Prostatic Hypertrophy, Benign Prostatic Hypertrophy, Benign[accessedResource: MSH:D011470][accessDate: 05-04-2011] Prostatic Hypertrophy[accessedResource: MSH:D011470][accessDate: 05-04-2011] Prostatic area hypertrophy Prostatic area hypertrophy[accessedResource: SNOMEDCT:266569009][accessDate: 05-04-2011] Prostatic hyper -benign Prostatic hypertrophy SNOMEDCT:266569009 SNOMEDCT:367483003 Tomasz Adamusiak benign hypertrophy of prostate NOS benign prostatic hypertrophy obsolete_biomaterial factor redundant use material entity true biopsy number A biopsy number is an information entity about the numerical label given to a partciular biopsy obtained. James Malone biopsy site James Malone The physical site from which tissue has been removed from a living organism. Does not imply any statistical significance, i.e. that it is a statistically representative sample of the whole. There is possible overlap here with sample and perhaps should be merged. bipolar disorder A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH). A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).[accessedResource: NIFSTD:birnlex_12754][accessDate: 05-04-2011] A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence. A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.[accessedResource: NCIt:C34423][accessDate: 05-04-2011] Affective Bipolar Psychosis Affective Bipolar Psychosis[accessedResource: NIFSTD:birnlex_12754][accessDate: 05-04-2011] Affective Psychosis, Bipolar Affective Psychosis, Bipolar[accessedResource: MSH:D001714][accessDate: 05-04-2011] BIPOLAR DIS BIPOLAR DISORDER NOS BIPOLAR DISORDER NOS[accessedResource: ICD9:296.80][accessDate: 05-04-2011] BIPOLAR DIS[accessedResource: MSH:D001714][accessDate: 05-04-2011] Bipolar Affective Psychosis Bipolar Affective Psychosis[accessedResource: MSH:D001714][accessDate: 05-04-2011] Bipolar Depression Bipolar Depression[accessedResource: MSH:D001714][accessDate: 05-04-2011] Bipolar Disorders Bipolar Disorders[accessedResource: MSH:D001714][accessDate: 05-04-2011] Bipolar affective disorder Bipolar affective disorder , current episode mixed (disorder) Bipolar affective disorder, current episode depression (disorder) Bipolar affective disorder, manic, unspecified degree Bipolar affective disorder, mixed, unspecified degree Bipolar affective disorder[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011] Bipolar disorder (disorder) Bipolar disorder (disorder)[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011] Bipolar disorder, NOS Bipolar disorder, NOS[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011] Bipolar disorder, unspecified Bipolar disorder, unspecified[accessedResource: ICD9:296.80][accessDate: 05-04-2011] DOID:3312 Depression, Bipolar Depression, Bipolar[accessedResource: MSH:D001714][accessDate: 05-04-2011] Depressive-manic psych. Disorder, Bipolar Disorder, Bipolar[accessedResource: MSH:D001714][accessDate: 05-04-2011] Disorder, Manic Disorder, Manic[accessedResource: MSH:D001714][accessDate: 05-04-2011] GeneRIF:11702051 GeneRIF:11840505 GeneRIF:11840509 GeneRIF:11901356 GeneRIF:11930170 GeneRIF:12082561 GeneRIF:12097806 GeneRIF:12111480 GeneRIF:12140781 GeneRIF:12161822 GeneRIF:12192619 GeneRIF:12232779 GeneRIF:12496953 GeneRIF:12498692 GeneRIF:12555230 GeneRIF:12565145 GeneRIF:12565915 GeneRIF:12610658 GeneRIF:12647258 GeneRIF:12664313 GeneRIF:12782961 GeneRIF:12808434 GeneRIF:12815743 GeneRIF:12949534 GeneRIF:12951196 GeneRIF:14531760 GeneRIF:14582141 GeneRIF:14604453 GeneRIF:14678452 GeneRIF:14699425 GeneRIF:14729229 GeneRIF:14729237 GeneRIF:14743183 GeneRIF:14966479 GeneRIF:14967554 GeneRIF:14985387 GeneRIF:15050861 GeneRIF:15111989 GeneRIF:15167705 GeneRIF:15211633 GeneRIF:15257153 GeneRIF:15261714 GeneRIF:15450783 GeneRIF:15452587 GeneRIF:15539862 GeneRIF:15576061 GeneRIF:15622415 GeneRIF:15630410 GeneRIF:15660667 GeneRIF:15737668 GeneRIF:15799788 GeneRIF:15806582 GeneRIF:15820318 GeneRIF:15824745 GeneRIF:15838535 GeneRIF:15885920 GeneRIF:15909293 GeneRIF:15917720 GeneRIF:15940297 GeneRIF:15983625 GeneRIF:16044170 GeneRIF:16044173 GeneRIF:16168956 ICD9:296.80 James Malone MANIC DEPRESSIVE ILLNESS MANIC DIS MANIC DIS[accessedResource: MSH:D001714][accessDate: 05-04-2011] MDI - Manic-depressive illness MDI - Manic-depressive illness[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011] MSH:D001714 Mania Mania[accessedResource: MSH:D001714][accessDate: 05-04-2011] Manias Manias[accessedResource: MSH:D001714][accessDate: 05-04-2011] Manic Bipolar Affective disorder Manic Bipolar Affective disorder[accessedResource: DOID:3312][accessDate: 05-04-2011] Manic Depressive Disorder[accessedResource: NCIt:C34423][accessDate: 05-04-2011] Manic Depressive Psychosis Manic Depressive Psychosis[accessedResource: MSH:D001714][accessDate: 05-04-2011] Manic Depressive disorder Manic Disorder Manic Disorders Manic Disorders[accessedResource: MSH:D001714][accessDate: 05-04-2011] Manic State Manic State[accessedResource: MSH:D001714][accessDate: 05-04-2011] Manic States Manic States[accessedResource: MSH:D001714][accessDate: 05-04-2011] Manic bipolar I disorder Manic bipolar I disorder (disorder) Manic bipolar I disorder[accessedResource: DOID:3312][accessDate: 05-04-2011] Manic-Depression Manic-Depression[accessedResource: NCIt:C34423][accessDate: 05-04-2011] Manic-Depressive Psychoses Manic-Depressive Psychoses[accessedResource: MSH:D001714][accessDate: 05-04-2011] Manic-depressive illness Manic-depressive illness[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011] Manic-depressive psychosis Manic-depressive psychosis[accessedResource: SNOMEDCT:13746004][accessDate: 05-04-2011] Manic-depressive syndrome NOS NCIt:C34423 NIFSTD:birnlex_12754 OMIM:612357 Psychoses, Bipolar Affective Psychoses, Bipolar Affective[accessedResource: MSH:D001714][accessDate: 05-04-2011] Psychoses, Manic Depressive Psychoses, Manic Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011] Psychoses, Manic-Depressive Psychoses, Manic-Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011] Psychosis, Bipolar Affective Psychosis, Bipolar Affective[accessedResource: MSH:D001714][accessDate: 05-04-2011] Psychosis, Manic Depressive Psychosis, Manic Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011] Psychosis, Manic-Depressive Psychosis, Manic-Depressive[accessedResource: MSH:D001714][accessDate: 05-04-2011] SNOMEDCT:13746004 SNOMEDCT:191646009 SNOMEDCT:191647000 SNOMEDCT:191654006 SNOMEDCT:192365005 State, Manic State, Manic[accessedResource: MSH:D001714][accessDate: 05-04-2011] States, Manic States, Manic[accessedResource: MSH:D001714][accessDate: 05-04-2011] Tomasz Adamusiak Unspecified bipolar affective disorder Unspecified bipolar affective disorder (disorder) Unspecified bipolar affective disorder (disorder)[accessedResource: SNOMEDCT:191646009][accessDate: 05-04-2011] Unspecified bipolar affective disorder, NOS Unspecified bipolar affective disorder, NOS (disorder) Unspecified bipolar affective disorder, NOS (disorder)[accessedResource: SNOMEDCT:191654006][accessDate: 05-04-2011] Unspecified bipolar affective disorder, NOS[accessedResource: SNOMEDCT:191654006][accessDate: 05-04-2011] Unspecified bipolar affective disorder, unspecified Unspecified bipolar affective disorder, unspecified (disorder) Unspecified bipolar affective disorder, unspecified (disorder)[accessedResource: SNOMEDCT:191647000][accessDate: 05-04-2011] Unspecified bipolar affective disorder, unspecified[accessedResource: SNOMEDCT:191647000][accessDate: 05-04-2011] Unspecified bipolar affective disorder[accessedResource: SNOMEDCT:191646009][accessDate: 05-04-2011] [X]Bipolar affective disorder, unspecified [X]Bipolar affective disorder, unspecified (disorder) [X]Bipolar affective disorder, unspecified (disorder)[accessedResource: SNOMEDCT:192365005][accessDate: 05-04-2011] [X]Bipolar affective disorder, unspecified[accessedResource: SNOMEDCT:192365005][accessDate: 05-04-2011] bipolar disease bipolar disease[accessedResource: DOID:3312][accessDate: 05-04-2011] bipolar disorder manic phase bipolar disorder manic phase[accessedResource: DOID:3312][accessDate: 05-04-2011] manic disorder[accessedResource: DOID:3312][accessDate: 05-04-2011] mixed bipolar I disorder (disorder) mixed bipolar affective disorder (disorder) mixed bipolar affective disorder, NOS (disorder) mixed bipolar disorder mixed bipolar disorder[accessedResource: DOID:3312][accessDate: 05-04-2011] true obsolete_bladder A membranous sac in animals that serves as the receptacle of a liquid or contains gas. A membranous sac in animals that serves as the receptacle of a liquid or contains gas.[accessedResource: BTO:0000123][accessDate: 05-04-2011] AAO:0000623 BTO:0000123 EHDAA:9328 EMAPA:18321 EV:0100098 FMAID:15900 James Malone MA:0000380 MAT:0000122 NCIt:C12414 Organ with organ cavity which is continuous proximally with the right and left ureters and distally with the urethra. Examples: There is only one urinary bladder. SAEL:115 The distensible sac-like organ that functions as a reservoir of urine, collecting from the kidneys and eliminating via the urethra. The distensible sac-like organ that functions as a reservoir of urine, collecting from the kidneys and eliminating via the urethra.[accessedResource: NCIt:C12414][accessDate: 05-04-2011] Urinary System, Bladder Urinary System, Bladder[accessedResource: NCIt:C12414][accessDate: 05-04-2011] Urinary bladder Urinary bladder[accessedResource: FMAID:15900][accessDate: 05-04-2011] XAO:0000154 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001255 label: urinary bladder true obsolete_bladder MMHCC James Malone NCIt:C22729 Obsolete: No longer required in EFO true bladder carcinoma A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.[accessedResource: NCIt:C4912][accessDate: 05-04-2011] A carcinoma that arises_from tissues of the bladder. A carcinoma that arises_from tissues of the bladder.[accessedResource: DOID:4007][accessDate: 05-04-2011] A carcinoma that forms in tissues of the bladder. Bladder Cancer Bladder Cancer[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. Bladder neoplasms Cancer of Bladder Cancer of Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Cancer of Urinary Bladder Cancer of Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Cancer of the Bladder Cancer of the Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Cancer of the Urinary Bladder Cancer of the Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Carcinoma of Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Carcinoma of Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Carcinoma of the Bladder Carcinoma of the Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Carcinoma of the Urinary Bladder Carcinoma of the Urinary Bladder[accessedResource: NCIt:C4912][accessDate: 05-04-2011] DOID:4007 GeneRIF:11749692 GeneRIF:12225859 GeneRIF:12488298 GeneRIF:12492368 GeneRIF:12594814 GeneRIF:12820373 GeneRIF:14654522 GeneRIF:15032076 GeneRIF:15140401 GeneRIF:15361851 GeneRIF:15386310 GeneRIF:15516981 GeneRIF:15599595 GeneRIF:15734831 GeneRIF:15942628 GeneRIF:16061860 GeneRIF:16215315 James Malone NCIt:C4912 Neoplasms, bladder OMIM:109800 SNOMEDCT:255108000 Tomasz Adamusiak Urinary Bladder Cancer Urinary Bladder Cancer[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Urinary Bladder Carcinoma Urinary Bladder Carcinoma[accessedResource: NCIt:C4912][accessDate: 05-04-2011] Urinary bladder neoplasms carcinoma bladder carcinoma bladder[accessedResource: DOID:4007][accessDate: 05-04-2011] carcinoma of bladder carcinoma of bladder (disorder) carcinoma of bladder (disorder)[accessedResource: DOID:4007][accessDate: 05-04-2011] carcinoma of urinary bladder true MSH:D0001749 bladder mucosa James Malone NCIt:C32205 bladder tumor A benign or malignant, primary or metastatic neoplasm of the bladder. - 2003[accessedResource: NCIt:C2901][accessDate: 05-04-2011] An abnormal growth, i.e. tumor, located in the bladder. BLADDER NEOPL[accessedResource: MSH:D001749][accessDate: 05-04-2011] Bladder Neoplasms[accessedResource: MSH:D001749][accessDate: 05-04-2011] Bladder Tumors Bladder Tumors[accessedResource: MSH:D001749][accessDate: 05-04-2011] DOID:5428 GeneRIF:11888683 GeneRIF:12115506 GeneRIF:12202941 GeneRIF:12672029 GeneRIF:12783123 GeneRIF:12820330 GeneRIF:12853839 GeneRIF:12926071 GeneRIF:15122326 GeneRIF:15215162 GeneRIF:15273729 GeneRIF:15541380 GeneRIF:15643502 James Malone MSH:D001749 NCIt:C2901 NEOPL BLADDER NEOPL BLADDER[accessedResource: MSH:D001749][accessDate: 05-04-2011] NGB - New growth of bladder NGB - New growth of bladder[accessedResource: SNOMEDCT:126885006][accessDate: 05-04-2011] Neoplasm of Bladder Neoplasm of Urinary Bladder Neoplasm of Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Neoplasm of bladder[accessedResource: SNOMEDCT:126885006][accessDate: 05-04-2011] Neoplasm of the Bladder Neoplasm of the Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Neoplasm of the Urinary Bladder Neoplasm of the Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Neoplasm, Bladder Neoplasm, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011] Neoplasm, Urinary Bladder Neoplasm, Urinary Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011] Neoplasms, Bladder Neoplasms, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011] SNOMEDCT:126885006 Tumor of Bladder Tumor of Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Tumor of Urinary Bladder Tumor of Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Tumor of the Bladder Tumor of the Urinary Bladder Tumor of the Urinary Bladder[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Tumor, Bladder Tumor, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011] Tumors, Bladder Tumors, Bladder[accessedResource: MSH:D001749][accessDate: 05-04-2011] Tumour of urinary bladder Tumour of urinary bladder[accessedResource: SNOMEDCT:126885006][accessDate: 05-04-2011] URINARY BLADDER NEOPL URINARY BLADDER NEOPL[accessedResource: MSH:D001749][accessDate: 05-04-2011] Urinary Bladder Neoplasm Urinary Bladder Neoplasm[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Urinary Bladder Neoplasms Urinary Bladder Neoplasms[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Urinary Bladder Tumor Urinary Bladder Tumor[accessedResource: NCIt:C2901][accessDate: 05-04-2011] Urinary Bladder Tumors Urinary Bladder Tumors[accessedResource: NCIt:C2901][accessDate: 05-04-2011] bladder neoplasm[accessedResource: DOID:5428][accessDate: 05-04-2011] neoplasm of bladder (disorder) neoplasm of bladder (disorder)[accessedResource: DOID:5428][accessDate: 05-04-2011] tumor of the bladder[accessedResource: DOID:5428][accessDate: 05-04-2011] obsolete_blastocyst An embryo made up of two groups of cells. One group will develop into the fetus and the other will become the placenta. An embryo made up of two groups of cells. One group will develop into the fetus and the other will become the placenta.[accessedResource: NCIt:C13739][accessDate: 05-04-2011] BTO:0001099 Blastosphere Blastosphere[accessedResource: NCIt:C13739][accessDate: 05-04-2011] Blastula Blastula[accessedResource: NCIt:C13739][accessDate: 05-04-2011] James Malone NCIt:C13739 The modified blastula of a placental mammal. The modified blastula of a placental mammal.[accessedResource: BTO:0001099][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0000358 label: blastocyst true obsolete_blood 1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body.n2: A comparable fluid of an invertebrate. 1: The fluid that circulates in the heart, arteries, capillaries, and veins of a vertebrate animal carrying nourishment and oxygen to and bringing away waste products from all parts of the body.n2: A comparable fluid of an invertebrate.[accessedResource: BTO:0000089][accessDate: 05-04-2011] A cell found predominately in the blood. A cell found predominately in the blood.[accessedResource: TAO:0009044][accessDate: 05-04-2011] A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood. A liquid tissue; its major function is to transport oxygen throughout the body. It also supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection. Several hormones also travel in the blood.[accessedResource: NCIt:C12434][accessDate: 05-04-2011] BTO:0000089 James Malone Jie Zheng MA:0000059 MAT:0000083 MO_409 NCIt:C12434 PBMC PBMCs Peripheral Blood Peripheral Blood[accessedResource: NCIt:C12434][accessDate: 05-04-2011] Reticuloendothelial System, Blood Reticuloendothelial System, Blood[accessedResource: NCIt:C12434][accessDate: 05-04-2011] SAEL:8 TAO:0009044 Tomasz Adamusiak blood cell[accessedResource: TAO:0009044][accessDate: 05-04-2011] blood cells[accessedResource: MAT:0000083][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#blood whole blood true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000178 label: blood bone BTO:0000140 Bones Bones[accessedResource: NCIt:C12366][accessDate: 05-04-2011] Connective tissue that forms the skeletal components of the body. Connective tissue that forms the skeletal components of the body.[accessedResource: NCIt:C12366][accessDate: 05-04-2011] EV:0100140 FMAID:30317 James Malone MAT:0000299 NCIt:C12366 Osseous Osseous[accessedResource: NCIt:C12366][accessDate: 05-04-2011] Portion of tissue which is calcified connective tissue making up the structural elements of the skeletal system. Portion of tissue which is calcified connective tissue making up the structural elements of the skeletal system.[accessedResource: TAO:0001514][accessDate: 05-04-2011] SAEL:10 TAO:0001514 The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone. The hard form of connective tissue that constitutes the majority of the skeleton of most vertebrates; it consists of an organic component (the cells and matrix) and an inorganic, or mineral, component; the matrix contains a framework of collagenous fibers and is impregnated with the mineral component, chiefly calcium phosphate (85 per cent) and calcium carbonate (10 per cent), which imparts the quality of rigidity to bone.[accessedResource: BTO:0000140][accessDate: 05-04-2011] XAO:0000169 osseous tissue obsolete_bone MMHCC James Malone NCIt:C22682 Obsolete: No longer required in EFO true obsolete_bone marrow MMHCC James Malone NCIt:C22552 Obsolete: No longer required in EFO true obsolete_brain An organ composed of grey and white matter containing billions of neurons that is the center for intelligence and reasoning. It is protected by the bony cranium. An organ composed of grey and white matter containing billions of neurons that is the center for intelligence and reasoning. It is protected by the bony cranium.[accessedResource: NCIt:C12439][accessDate: 05-04-2011] BTO:0000227 Brain of the adult. Brain of the adult.[accessedResource: FBbt:00003624][accessDate: 05-04-2011] Brain, Nervous System Brain, Nervous System[accessedResource: NCIt:C12439][accessDate: 05-04-2011] Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system. Cavitated compound organ which is comprised of gray and white matter and surrounds the cerebral ventricular system.[accessedResource: TAO:0000008][accessDate: 05-04-2011] EHDAA:2641 EV:0100164 FBbt:00003624 FMAID:50801 James Malone Jon Ison MA:0000168 MAT:0000098 MFO:0002240 MSH:D001921 NCIt:C12439 NIFSTD:birnlex_796 Nervous System, Brain Nervous System, Brain[accessedResource: NCIt:C12439][accessDate: 05-04-2011] SAEL:12 Segment of neuraxis that has as its parts gray matter and white matter that surround the cerebral ventricular system; Examples: There is only one brain. TADS:0000188 TAO:0000008 The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord. The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord.[accessedResource: BTO:0000227][accessDate: 05-04-2011] The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. * Subdivision of neuraxis that consists of neural tissue (which is organized into gray matter and white matter) and the cerebral ventricular system (cavity of organ part); it is embryologically derived from the rostral part of the neural tube; together with the spinal cord, the brain constitutes the organ neuraxis. Examples: There is only one brain. (UWDA) * That part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. Functions include muscle control and coordination, sensory reception and integration, speech production, memory storage, and the elaboration of thought and emotions. (NCI) * The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. (MSH) * portion of the vertebrate central nervous system that is enclosed within the cranium, continuous with the spinal cord, and composed of gray matter and white matter; the primary center for the regulation and control of bodily activities, receiving and interpreting sensory impulses, and transmitting information to the muscles and body organs; also the seat of consciousness, thought, memory, and emotion; includes the functionally similar portion of the invertebrate nervous system. (CSP) The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. * Subdivision of neuraxis that consists of neural tissue (which is organized into gray matter and white matter) and the cerebral ventricular system (cavity of organ part); it is embryologically derived from the rostral part of the neural tube; together with the spinal cord, the brain constitutes the organ neuraxis. Examples: There is only one brain. (UWDA) * That part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. Functions include muscle control and coordination, sensory reception and integration, speech production, memory storage, and the elaboration of thought and emotions. (NCI) * The part of the central nervous system contained within the cranium, comprising the prosencephalon, mesencephalon, and rhombencephalon. It is derived from the anterior part of the embryonic neural tube. (MSH) * portion of the vertebrate central nervous system that is enclosed within the cranium, continuous with the spinal cord, and composed of gray matter and white matter; the primary center for the regulation and control of bodily activities, receiving and interpreting sensory impulses, and transmitting information to the muscles and body organs; also the seat of consciousness, thought, memory, and emotion; includes the functionally similar portion of the invertebrate nervous system. (CSP)[accessedResource: NIFSTD:birnlex_796][accessDate: 05-04-2011] Tomasz Adamusiak WBbt:0005440 ZFA:0000008 adult brain adult brain[accessedResource: FBbt:00003624][accessDate: 05-04-2011] brain structure central nervous system[accessedResource: BTO:0000227][accessDate: 05-04-2011] cerebrospinal axis neuraxis synganglion synganglion[accessedResource: MAT:0000098][accessDate: 05-04-2011] true true Use http://purl.obolibrary.org/obo/UBERON_0000955 label: brain 2.38 breast adenocarcinoma DOID:3458 James Malone breast carcinoma A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla. A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla. A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.[accessedResource: NCIt:C4872][accessDate: 05-04-2011] A carcinoma that derives_from breast tissue. A carcinoma that derives_from breast tissue.[accessedResource: DOID:3459][accessDate: 05-04-2011] A carcinoma that originates from breast tissue. BREAST CANCER[accessedResource: NCIt:C4872][accessDate: 05-04-2011] BREAST NEOPL BREAST NEOPL[accessedResource: MSH:D001943][accessDate: 05-04-2011] Breast Cancer Breast Neoplasm Breast Neoplasm[accessedResource: MSH:D001943][accessDate: 05-04-2011] Breast Neoplasms Breast Neoplasms[accessedResource: MSH:D001943][accessDate: 05-04-2011] Breast Tumor Breast Tumor[accessedResource: MSH:D001943][accessDate: 05-04-2011] Breast Tumors Breast Tumors[accessedResource: MSH:D001943][accessDate: 05-04-2011] CA - Carcinoma of breast CA - Carcinoma of breast[accessedResource: SNOMEDCT:254838004][accessDate: 05-04-2011] Cancer of Breast Cancer of Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Cancer of the Breast Cancer of the Breast[accessedResource: NCIt:C4872][accessDate: 05-04-2011] Cancer of the human MAMMARY GLAND. Cancer of the human MAMMARY GLAND.[accessedResource: MSH:D001943][accessDate: 05-04-2011] Cancer, Breast Cancer, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Carcinoma of breast (disorder) Carcinoma of breast (disorder)[accessedResource: SNOMEDCT:254838004][accessDate: 05-04-2011] Carcinoma of breast NOS Carcinoma of breast NOS (disorder) Carcinoma of breast NOS[accessedResource: SNOMEDCT:286898006][accessDate: 05-04-2011] Carcinoma of the Breast Carcinoma of the Breast[accessedResource: NCIt:C4872][accessDate: 05-04-2011] Carcinoma, Human Mammary Carcinoma, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011] Carcinomas, Human Mammary Carcinomas, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011] DOID:3459 GeneRIF:10713110 GeneRIF:11724803 GeneRIF:11759817 GeneRIF:11802810 GeneRIF:11822878 GeneRIF:11839578 GeneRIF:11859072 GeneRIF:11891846 GeneRIF:11909957 GeneRIF:11948115 GeneRIF:11962738 GeneRIF:11986781 GeneRIF:11992405 GeneRIF:11994274 GeneRIF:12015771 GeneRIF:12034875 GeneRIF:12037665 GeneRIF:12105188 GeneRIF:12115372 GeneRIF:12133473 GeneRIF:12174926 GeneRIF:12197229 GeneRIF:12231533 GeneRIF:12452027 GeneRIF:12462387 GeneRIF:12490973 GeneRIF:12496062 GeneRIF:12499259 GeneRIF:12522268 GeneRIF:12529969 GeneRIF:12538354 GeneRIF:12552965 GeneRIF:12566312 GeneRIF:12581744 GeneRIF:12592371 GeneRIF:12637343 GeneRIF:12640109 GeneRIF:12648519 GeneRIF:12650602 GeneRIF:12653579 GeneRIF:12784332 GeneRIF:12878859 GeneRIF:12879463 GeneRIF:14500350 GeneRIF:14519635 GeneRIF:14584041 GeneRIF:14612940 GeneRIF:14638862 GeneRIF:14654792 GeneRIF:14666627 GeneRIF:14687724 GeneRIF:14692019 GeneRIF:14729059 GeneRIF:14871985 GeneRIF:14966279 GeneRIF:14991534 GeneRIF:15034014 GeneRIF:15034868 GeneRIF:15059510 GeneRIF:15059886 GeneRIF:15067342 GeneRIF:15073116 GeneRIF:15102684 GeneRIF:15102687 GeneRIF:15149158 GeneRIF:15156151 GeneRIF:15168344 GeneRIF:15193258 GeneRIF:15241820 GeneRIF:15241822 GeneRIF:15353581 GeneRIF:15374639 GeneRIF:15451571 GeneRIF:15492258 GeneRIF:15550849 GeneRIF:15578430 GeneRIF:15592496 GeneRIF:15671541 GeneRIF:15693887 GeneRIF:15742334 GeneRIF:15743035 GeneRIF:15837735 GeneRIF:15856430 GeneRIF:15856473 GeneRIF:15863392 GeneRIF:15867228 GeneRIF:15882617 GeneRIF:15920544 GeneRIF:15935701 GeneRIF:15944917 GeneRIF:15999367 GeneRIF:16000313 GeneRIF:16007173 GeneRIF:16024059 GeneRIF:16027728 GeneRIF:16049961 GeneRIF:16054892 GeneRIF:16144914 GeneRIF:16273187 GeneRIF:16295419 Human Mammary Carcinoma Human Mammary Carcinoma[accessedResource: MSH:D001943][accessDate: 05-04-2011] Human Mammary Carcinomas Human Mammary Carcinomas[accessedResource: MSH:D001943][accessDate: 05-04-2011] Human Mammary Neoplasm Human Mammary Neoplasm[accessedResource: MSH:D001943][accessDate: 05-04-2011] Human Mammary Neoplasms Human Mammary Neoplasms[accessedResource: MSH:D001943][accessDate: 05-04-2011] James Malone MSH:D001943 Mammary Carcinoma, Human Mammary Carcinoma, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011] Mammary Carcinomas, Human Mammary Carcinomas, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011] Mammary Neoplasm, Human Mammary Neoplasm, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011] Mammary Neoplasms, Human Mammary Neoplasms, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011] Mammary carcinoma Mammary carcinoma[accessedResource: DOID:3459][accessDate: 05-04-2011] NCIt:C4872 NEOPL BREAST NEOPL BREAST[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasm, Breast Neoplasm, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasm, Human Mammary Neoplasm, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasms, Breast Neoplasms, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasms, Human Mammary Neoplasms, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011] OMIM:114480 SNOMEDCT:254838004 SNOMEDCT:286898006 Tomasz Adamusiak Tumor or cancer of the human MAMMARY GLAND. Tumor or cancer of the human MAMMARY GLAND.[accessedResource: MSH:D001943][accessDate: 05-04-2011] Tumor, Breast Tumor, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Tumors or cancer of the human BREAST. Tumors or cancer of the human BREAST.[accessedResource: MSH:D001943][accessDate: 05-04-2011] Tumors, Breast Tumors, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] carcinoma OF breast carcinoma of breast NOS (disorder)[accessedResource: DOID:3459][accessDate: 05-04-2011] carcinoma of breast[accessedResource: DOID:3459][accessDate: 05-04-2011] true breast tumor luminal James Malone bronchial epithelium BTO:0001845 James Malone NCIt:C32231 bronchoalveolar adenocarcinoma A carcinoma thought to be derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed) A carcinoma thought to be derived from epithelium of terminal bronchioles, in which the neoplastic tissue extends along the alveolar walls and grows in small masses within the alveoli. Involvement may be uniformly diffuse and massive, or nodular, or lobular. The neoplastic cells are cuboidal or columnar and form papillary structures. Mucin may be demonstrated in some of the cells and in the material in the alveoli, which also includes denuded cells. Metastases in regional lymph nodes, and in even more distant sites, are known to occur, but are infrequent. (From Stedman, 25th ed)[accessedResource: MSH:D002282][accessDate: 05-04-2011] A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion. A well or moderately differentiated morphologic variant of lung adenocarcinoma characterized by tumor growth along the alveolar structures without stromal, vascular, or pleural invasion.[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Adenocarcinoma, Alveolar Adenocarcinoma, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Adenocarcinoma, Bronchiolo Alveolar Adenocarcinoma, Bronchiolo Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Adenocarcinoma, Bronchiolo-Alveolar Adenocarcinoma, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Adenocarcinomas, Alveolar Adenocarcinomas, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Adenocarcinomas, Bronchiolo-Alveolar Adenocarcinomas, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Alveolar Adenocarcinoma Alveolar Adenocarcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011] Alveolar Adenocarcinomas Alveolar Adenocarcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011] Alveolar Carcinoma Alveolar Carcinomas Alveolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011] Alveolar adenocarcinoma (morphologic abnormality) Alveolar adenocarcinoma (morphologic abnormality)[accessedResource: DOID:4926][accessDate: 05-04-2011] Alveolar carcinoma[accessedResource: SNOMEDCT:36310008][accessDate: 05-04-2011] Alveolar cell carcinoma Alveolar cell carcinoma[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011] BAC BAC[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchioalveolar Adenocarcinoma of Lung Bronchioalveolar Adenocarcinoma of Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchioalveolar Adenocarcinoma of the Lung Bronchioalveolar Adenocarcinoma of the Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchioalveolar Lung Carcinoma Bronchioalveolar lung carcinoma[accessedResource: DOID:4926][accessDate: 05-04-2011] Bronchiolar Carcinoma Bronchiolar Carcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011] Bronchiolar Carcinomas Bronchiolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011] Bronchiolar adenocarcinoma Bronchiolar adenocarcinoma[accessedResource: SNOMEDCT:373627005][accessDate: 05-04-2011] Bronchiolo-Alveolar Adenocarcinomas Bronchiolo-Alveolar Adenocarcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011] Bronchiolo-Alveolar Carcinoma Bronchiolo-Alveolar Carcinoma of Lung Bronchiolo-Alveolar Carcinoma of Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchiolo-Alveolar Carcinoma of the Lung Bronchiolo-Alveolar Carcinoma of the Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchiolo-Alveolar Carcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011] Bronchiolo-Alveolar Carcinomas Bronchiolo-Alveolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011] Bronchiolo-Alveolar Lung Carcinoma Bronchiolo-Alveolar Lung Carcinoma[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchiolo-alveolar adenocarcinoma Bronchiolo-alveolar adenocarcinoma (morphologic abnormality) Bronchiolo-alveolar adenocarcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011] Bronchiolo-alveolar adenocarcinoma[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011] Bronchioloalveolar Adenocarcinoma of Lung Bronchioloalveolar Adenocarcinoma of Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchioloalveolar Adenocarcinoma of the Lung Bronchioloalveolar Adenocarcinoma of the Lung[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchioloalveolar Carcinoma[accessedResource: MSH:D002282][accessDate: 05-04-2011] Bronchioloalveolar Carcinomas Bronchioloalveolar Carcinomas[accessedResource: MSH:D002282][accessDate: 05-04-2011] Bronchioloalveolar Lung Adenocarcinoma Bronchioloalveolar Lung Adenocarcinoma[accessedResource: NCIt:C2923][accessDate: 05-04-2011] Bronchioloalveolar adenocarcinoma Bronchioloalveolar adenocarcinoma[accessedResource: DOID:4926][accessDate: 05-04-2011] Bronchioloalveolar carcinoma Bronchioloalveolar carcinoma (disorder) Bronchioloalveolar carcinoma (disorder)[accessedResource: DOID:4926][accessDate: 05-04-2011] Bronchioloalveolar carcinoma - disorder Bronchioloalveolar carcinoma - disorder[accessedResource: SNOMEDCT:373627005][accessDate: 05-04-2011] Carcinoma, Alveolar Carcinoma, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinoma, Bronchiolar Carcinoma, Bronchiolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinoma, Bronchiolo Alveolar Carcinoma, Bronchiolo Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinoma, Bronchiolo-Alveolar Carcinoma, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinoma, Bronchioloalveolar Carcinoma, Bronchioloalveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinomas, Alveolar Carcinomas, Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinomas, Bronchiolar Carcinomas, Bronchiolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinomas, Bronchiolo-Alveolar Carcinomas, Bronchiolo-Alveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] Carcinomas, Bronchioloalveolar Carcinomas, Bronchioloalveolar[accessedResource: MSH:D002282][accessDate: 05-04-2011] DOID:4926 James Malone MSH:D002282 NCIt:C2923 SNOMEDCT:112677002 SNOMEDCT:36310008 SNOMEDCT:373627005 [M]Bronchiolo-alveolar adenocarcinoma [M]Bronchiolo-alveolar adenocarcinoma[accessedResource: SNOMEDCT:112677002][accessDate: 05-04-2011] Burkitts lymphoma A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative. A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.[accessedResource: MSH:D002051][accessDate: 05-04-2011] African Lymphoma African Lymphoma[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt Cell Leukemia Burkitt Cell Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt Leukemia Burkitt Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt Lymphoma Burkitt Lymphoma[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt Tumor Burkitt Tumor[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt lymphoma/leukaemia Burkitt lymphoma/leukaemia[accessedResource: DOID:8584][accessDate: 05-04-2011] Burkitt's Leukemia Burkitt's Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt's Lymphoma Burkitt's Lymphoma[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt's Tumor[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitt's lymphoma - disorder Burkitt's lymphoma - disorder[accessedResource: DOID:8584][accessDate: 05-04-2011] Burkitt's lymphoma NOS (disorder) Burkitt's lymphoma NOS (disorder)[accessedResource: DOID:8584][accessDate: 05-04-2011] Burkitt's lymphoma of unspecified site (disorder) Burkitt's lymphoma of unspecified site (disorder)[accessedResource: DOID:8584][accessDate: 05-04-2011] Burkitt's tumor Burkitt's tumor NOS (morphologic abnormality) Burkitt's tumor NOS (morphologic abnormality)[accessedResource: DOID:8584][accessDate: 05-04-2011] Burkitt's tumor or lymphoma Burkitt's tumor or lymphoma[accessedResource: ICD9:200.2][accessDate: 05-04-2011] Burkitt's tumors (morphologic abnormality) Burkitt's tumors (morphologic abnormality)[accessedResource: DOID:8584][accessDate: 05-04-2011] Burkitt's tumour [obs] Burkitt's tumour [obs][accessedResource: DOID:8584][accessDate: 05-04-2011] Burkitts Leukemia Burkitts Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011] Burkitts Tumor Burkitts Tumor[accessedResource: MSH:D002051][accessDate: 05-04-2011] Cell Leukemia, Burkitt Cell Leukemia, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011] DOID:8584 GeneRIF:11443860 GeneRIF:11783945 GeneRIF:11869962 GeneRIF:11964311 GeneRIF:12070030 GeneRIF:12410315 GeneRIF:12594826 GeneRIF:12604406 GeneRIF:12672960 GeneRIF:12808131 GeneRIF:14697225 GeneRIF:14707079 GeneRIF:14980076 GeneRIF:15061213 GeneRIF:15384174 GeneRIF:15498855 GeneRIF:15520469 GeneRIF:15728515 GeneRIF:15940251 GeneRIF:16169462 ICD9:200.2 James Malone L3 Lymphocytic Leukemia L3 Lymphocytic Leukemia[accessedResource: MSH:D002051][accessDate: 05-04-2011] L3 Lymphocytic Leukemias L3 Lymphocytic Leukemias[accessedResource: MSH:D002051][accessDate: 05-04-2011] Leukemia, Burkitt Leukemia, Burkitt Cell Leukemia, Burkitt Cell[accessedResource: MSH:D002051][accessDate: 05-04-2011] Leukemia, Burkitt's Leukemia, Burkitt's[accessedResource: MSH:D002051][accessDate: 05-04-2011] Leukemia, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011] Leukemia, L3 Lymphocytic Leukemia, L3 Lymphocytic[accessedResource: MSH:D002051][accessDate: 05-04-2011] Leukemia, Lymphoblastic, Burkitt-Type Leukemia, Lymphoblastic, Burkitt-Type[accessedResource: MSH:D002051][accessDate: 05-04-2011] Leukemia, Lymphocytic, L3 Leukemia, Lymphocytic, L3[accessedResource: MSH:D002051][accessDate: 05-04-2011] Leukemias, L3 Lymphocytic Leukemias, L3 Lymphocytic[accessedResource: MSH:D002051][accessDate: 05-04-2011] Lymphocytic Leukemia, L3 Lymphocytic Leukemia, L3[accessedResource: MSH:D002051][accessDate: 05-04-2011] Lymphocytic Leukemias, L3 Lymphocytic Leukemias, L3[accessedResource: MSH:D002051][accessDate: 05-04-2011] Lymphoma, African Lymphoma, African[accessedResource: MSH:D002051][accessDate: 05-04-2011] Lymphoma, Burkitt Lymphoma, Burkitt's Lymphoma, Burkitt's[accessedResource: MSH:D002051][accessDate: 05-04-2011] Lymphoma, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011] MSH:D002051 OMIM:113970 Tomasz Adamusiak Tumor, Burkitt Tumor, Burkitt's Tumor, Burkitt's[accessedResource: MSH:D002051][accessDate: 05-04-2011] Tumor, Burkitt[accessedResource: MSH:D002051][accessDate: 05-04-2011] malignant lymphoma, Burkitt's type malignant lymphoma, Burkitt's type[accessedResource: DOID:8584][accessDate: 05-04-2011] small Non-Cleaved cell Lymphoma, Burkitt's type small Non-Cleaved cell Lymphoma, Burkitt's type[accessedResource: DOID:8584][accessDate: 05-04-2011] obsolete_calpainopathy 1.8 A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles). DOID:11724 GeneRIF:11741828 GeneRIF:11822024 GeneRIF:11891182 GeneRIF:12032588 GeneRIF:12428213 GeneRIF:12499399 GeneRIF:14600260 GeneRIF:14981167 GeneRIF:15087111 GeneRIF:15351423 GeneRIF:15385448 GeneRIF:16344347 James Malone MSH:D049288 SNOMEDCT:93153005 duplicate of limb-girdle muscular dystrophy EFO_0000758 true cancer A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. James Malone NIFSTD:birnlex_406 Tomasz Adamusiak ductal carcinoma in situ malignant neoplasia malignant tumor malignant tumour true cancer site CancerSite CancerSite[accessedResource: MO_26][accessDate: 05-04-2011] James Malone Jie Zheng Location of cancer, primary or metastatic MO_26 This will be obsoleted in near future. Tomasz Adamusiak carcinoma A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. James Malone cardiac mesoderm primordium CardMes CardMesP2 CardMesP2[accessedResource: FBbt:00005541][accessDate: 05-04-2011] CardMes[accessedResource: FBbt:00005541][accessDate: 05-04-2011] FBbt:00005541 James Malone P2 CardMes P2 CardMes[accessedResource: FBbt:00005541][accessDate: 05-04-2011] cardiac mesoderm cardiac mesoderm[accessedResource: FBbt:00005541][accessDate: 05-04-2011] cardiogenic mesoderm cardiogenic mesoderm[accessedResource: FBbt:00005541][accessDate: 05-04-2011] obsolete_cardiac ventricle A chamber of the heart which receives blood from a corresponding atrium and from which blood is forced into the arteries. A chamber of the heart which receives blood from a corresponding atrium and from which blood is forced into the arteries.[accessedResource: BTO:0000862][accessDate: 05-04-2011] BTO:0000862 Cardiac Ventricles Cardiac Ventricles[accessedResource: NCIt:C12730][accessDate: 05-04-2011] Cavitated compound organ that receives blood flow from the atrium and delivers blood to the body via the aorta. Valves are present to direct flow. There are only two chambers present in the fish heart. Cavitated compound organ that receives blood flow from the atrium and delivers blood to the body via the aorta. Valves are present to direct flow. There are only two chambers present in the fish heart.[accessedResource: ZFA:0000009][accessDate: 05-04-2011] EHDAA:1900 EMAPA:17331 EV:0100020 FMAID:82553 General anatomical term which refers to a chamber of an organ with cavitated organ parts. Examples: right ventricle of heart, lateral ventricle of brain. Heart Ventricle[accessedResource: NCIt:C12730][accessDate: 05-04-2011] MA:0000091 MAT:0000497 MFO:0080920 NCIt:C12730 One of four heart chambers. One of four heart chambers.[accessedResource: TAO:0000009][accessDate: 05-04-2011] TAO:0000009 The lower right and left chambers of the heart. The right pumps venous blood into the lungs and the left pumps oxygenated blood into the systemic arterial circulation. (MeSH) The lower right and left chambers of the heart. The right pumps venous blood into the lungs and the left pumps oxygenated blood into the systemic arterial circulation. (MeSH)[accessedResource: NCIt:C12730][accessDate: 05-04-2011] Tomasz Adamusiak Ventricles, Heart Ventricles, Heart[accessedResource: NCIt:C12730][accessDate: 05-04-2011] ZFA:0000009 heart ventricle ventricle ventricle[accessedResource: ZFA:0000009][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002082 Label: cardiac ventricle true 2.38 cardiomyopathy A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.[accessedResource: NCIt:C34830][accessDate: 05-04-2011] A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).[accessedResource: MSH:D009202][accessDate: 05-04-2011] CARDIOMYOPATH IN OTH DIS CARDIOMYOPATH IN OTH DIS[accessedResource: ICD9:425.8][accessDate: 05-04-2011] CARDIOMYOPATHIES SECOND CARDIOMYOPATHIES SECOND[accessedResource: MSH:D009202][accessDate: 05-04-2011] Cardiomyopathies Cardiomyopathies, Primary Cardiomyopathies, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011] Cardiomyopathies, Secondary Cardiomyopathies, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011] Cardiomyopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011] Cardiomyopathy (disorder) Cardiomyopathy (disorder)[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011] Cardiomyopathy NOS Cardiomyopathy NOS (disorder) Cardiomyopathy NOS (disorder)[accessedResource: SNOMEDCT:195037005][accessDate: 05-04-2011] Cardiomyopathy NOS[accessedResource: SNOMEDCT:195037005][accessDate: 05-04-2011] Cardiomyopathy in other diseases classified elsewhere Cardiomyopathy in other diseases classified elsewhere[accessedResource: ICD9:425.8][accessDate: 05-04-2011] Cardiomyopathy, NOS Cardiomyopathy, NOS[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011] Cardiomyopathy, Primary Cardiomyopathy, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011] Cardiomyopathy, Secondary Cardiomyopathy, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011] DOID:3978 Disease, Myocardial Disease, Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011] Disease, Primary Myocardial Disease, Primary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011] Disease, Secondary Myocardial Disease, Secondary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011] Diseases, Myocardial Diseases, Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011] Diseases, Primary Myocardial Diseases, Primary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011] Diseases, Secondary Myocardial Diseases, Secondary Myocardial[accessedResource: MSH:D009202][accessDate: 05-04-2011] Disorder of heart muscle Disorder of heart muscle[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011] Disorder of myocardium Disorder of myocardium[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011] ICD9:425 ICD9:425.4 ICD9:425.8 James Malone MSH:D009202 MYOCARDIAL DIS MYOCARDIAL DIS PRIMARY MYOCARDIAL DIS PRIMARY[accessedResource: MSH:D009202][accessDate: 05-04-2011] MYOCARDIAL DIS SECOND MYOCARDIAL DIS SECOND[accessedResource: MSH:D009202][accessDate: 05-04-2011] MYOCARDIAL DIS[accessedResource: MSH:D009202][accessDate: 05-04-2011] Myocardial Disease, Primary Myocardial Disease, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011] Myocardial Disease, Secondary Myocardial Disease, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011] Myocardial Diseases Myocardial Diseases, Primary Myocardial Diseases, Primary[accessedResource: MSH:D009202][accessDate: 05-04-2011] Myocardial Diseases, Secondary Myocardial Diseases, Secondary[accessedResource: MSH:D009202][accessDate: 05-04-2011] Myocardial Diseases[accessedResource: MSH:D009202][accessDate: 05-04-2011] Myocardial Disorder Myocardial Disorder[accessedResource: NCIt:C35544][accessDate: 05-04-2011] Myocardial disease Myocardial disease (disorder) Myocardial disease (disorder)[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011] Myocardial disease, NOS Myocardial disease, NOS[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011] Myocardial disease[accessedResource: SNOMEDCT:57809008][accessDate: 05-04-2011] Myocardiopathies Myocardiopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011] Myocardiopathy Myocardiopathy, NOS Myocardiopathy, NOS[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011] Myocardiopathy[accessedResource: SNOMEDCT:85898001][accessDate: 05-04-2011] NCIt:C34830 NCIt:C35544 Other primary cardiomyopathies Other primary cardiomyopathies (disorder) Other primary cardiomyopathies (disorder)[accessedResource: SNOMEDCT:195017006][accessDate: 05-04-2011] Other primary cardiomyopathies[accessedResource: ICD9:425.4][accessDate: 05-04-2011] Other primary cardiomyopathy NOS Other primary cardiomyopathy NOS (disorder) Other primary cardiomyopathy NOS (disorder)[accessedResource: SNOMEDCT:195022006][accessDate: 05-04-2011] Other primary cardiomyopathy NOS[accessedResource: SNOMEDCT:195022006][accessDate: 05-04-2011] PRIM CARDIOMYOPATHY NEC PRIM CARDIOMYOPATHY NEC[accessedResource: ICD9:425.4][accessDate: 05-04-2011] PRIMARY MYOCARDIAL DIS PRIMARY MYOCARDIAL DIS[accessedResource: MSH:D009202][accessDate: 05-04-2011] Primary Cardiomyopathies Primary Cardiomyopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011] Primary Cardiomyopathy Primary Cardiomyopathy[accessedResource: MSH:D009202][accessDate: 05-04-2011] Primary Myocardial Disease Primary Myocardial Disease[accessedResource: MSH:D009202][accessDate: 05-04-2011] Primary Myocardial Diseases Primary Myocardial Diseases[accessedResource: MSH:D009202][accessDate: 05-04-2011] SECOND MYOCARDIAL DIS SECOND MYOCARDIAL DIS[accessedResource: MSH:D009202][accessDate: 05-04-2011] SNOMEDCT:195017006 SNOMEDCT:195022006 SNOMEDCT:195037005 SNOMEDCT:195580005 SNOMEDCT:57809008 SNOMEDCT:85898001 Secondary Cardiomyopathies Secondary Cardiomyopathies[accessedResource: MSH:D009202][accessDate: 05-04-2011] Secondary Cardiomyopathy Secondary Cardiomyopathy[accessedResource: MSH:D009202][accessDate: 05-04-2011] Secondary Myocardial Disease Secondary Myocardial Disease[accessedResource: MSH:D009202][accessDate: 05-04-2011] Secondary Myocardial Diseases Secondary Myocardial Diseases[accessedResource: MSH:D009202][accessDate: 05-04-2011] Tomasz Adamusiak [X]Cardiomyopathy in other diseases classified elsewhere [X]Cardiomyopathy in other diseases classified elsewhere (disorder) [X]Cardiomyopathy in other diseases classified elsewhere (disorder)[accessedResource: SNOMEDCT:195580005][accessDate: 05-04-2011] [X]Cardiomyopathy in other diseases classified elsewhere[accessedResource: SNOMEDCT:195580005][accessDate: 05-04-2011] extrinsic cardiomyopathy extrinsic cardiomyopathy[accessedResource: DOID:3978][accessDate: 05-04-2011] cardiovascular disease A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.[accessedResource: DOID:1287][accessDate: 05-04-2011] A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003 A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.[accessedResource: NCIt:C2931][accessDate: 05-04-2011] ASCVD ASCVD[accessedResource: ICD9:429.2][accessDate: 05-04-2011] CARDIOVASC DIS CARDIOVASC DIS[accessedResource: MSH:D002318][accessDate: 05-04-2011] CIRCULATORY DISEASE NOS CIRCULATORY DISEASE NOS[accessedResource: ICD9:459.9][accessDate: 05-04-2011] CVD CVD, NOS CVD, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] CVD[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] CVS disease CVS disease[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Cardiovascular Disease (CVD) Cardiovascular Disease (CVD)[accessedResource: NCIt:C2931][accessDate: 05-04-2011] Cardiovascular Diseases Cardiovascular Diseases[accessedResource: MSH:D002318][accessDate: 05-04-2011] Cardiovascular Disorder Cardiovascular Disorder[accessedResource: NCIt:C2931][accessDate: 05-04-2011] Cardiovascular Disorders Cardiovascular Disorders[accessedResource: NCIt:C2931][accessDate: 05-04-2011] Cardiovascular disease, NOS Cardiovascular disease, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Cardiovascular disease, unspecified Cardiovascular disease, unspecified[accessedResource: ICD9:429.2][accessDate: 05-04-2011] Cardiovascular disorder, NOS Cardiovascular disorder, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Cardiovascular system disease Certain sequelae of myocardial infarction, not elsewhere classified Certain sequelae of myocardial infarction, not elsewhere classified[accessedResource: ICD9:429.7][accessDate: 05-04-2011] Circulatory system disease NOS Circulatory system disease NOS (disorder) Circulatory system disease NOS (disorder)[accessedResource: SNOMEDCT:195646003][accessDate: 05-04-2011] Circulatory system disease NOS[accessedResource: SNOMEDCT:195646003][accessDate: 05-04-2011] DISEASES OF THE CIRCULATORY SYSTEM DISEASES OF THE CIRCULATORY SYSTEM[accessedResource: ICD9:390-459.99][accessDate: 05-04-2011] DOID:1287 Disease affecting entire cardiovascular system Disease affecting entire cardiovascular system (disorder) Disease affecting entire cardiovascular system (disorder)[accessedResource: SNOMEDCT:105980002][accessDate: 05-04-2011] Disease affecting entire cardiovascular system[accessedResource: SNOMEDCT:105980002][accessDate: 05-04-2011] Disease of cardiovascular system Disease of cardiovascular system (disorder) Disease of cardiovascular system (disorder)[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Disease of cardiovascular system, NOS Disease of cardiovascular system, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Disease of cardiovascular system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Disease, Cardiovascular Disease, Cardiovascular[accessedResource: MSH:D002318][accessDate: 05-04-2011] Diseases, Cardiovascular Diseases, Cardiovascular[accessedResource: MSH:D002318][accessDate: 05-04-2011] Disorder of cardiovascular system Disorder of cardiovascular system (disorder) Disorder of cardiovascular system (disorder)[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Disorder of cardiovascular system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Disorder of circulatory system Disorder of circulatory system, NOS Disorder of circulatory system, NOS[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Disorder of circulatory system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] Disorder of the circulatory system Disorder of the circulatory system[accessedResource: SNOMEDCT:49601007][accessDate: 05-04-2011] GeneRIF:11744804 GeneRIF:11821707 GeneRIF:11822583 GeneRIF:11912547 GeneRIF:11934214 GeneRIF:11935372 GeneRIF:11985486 GeneRIF:12052142 GeneRIF:12052841 GeneRIF:12056504 GeneRIF:12065317 GeneRIF:12187094 GeneRIF:12195022 GeneRIF:12201209 GeneRIF:12204797 GeneRIF:12365916 GeneRIF:12431476 GeneRIF:12476328 GeneRIF:12606536 GeneRIF:12669427 GeneRIF:12690916 GeneRIF:12743009 GeneRIF:12818409 GeneRIF:12861348 GeneRIF:12867276 GeneRIF:12898464 GeneRIF:12911596 GeneRIF:12943734 GeneRIF:14967720 GeneRIF:14983217 GeneRIF:14998943 GeneRIF:15008790 GeneRIF:15010202 GeneRIF:15116245 GeneRIF:15166781 GeneRIF:15226189 GeneRIF:15240653 GeneRIF:15257013 GeneRIF:15282206 GeneRIF:15302608 GeneRIF:15314690 GeneRIF:15340249 GeneRIF:15342688 GeneRIF:15351863 GeneRIF:15363820 GeneRIF:15375785 GeneRIF:15459608 GeneRIF:15528465 GeneRIF:15531184 GeneRIF:15565175 GeneRIF:15576850 GeneRIF:15591764 GeneRIF:15598684 GeneRIF:15618240 GeneRIF:15619076 GeneRIF:15627719 GeneRIF:15634270 GeneRIF:15648548 GeneRIF:15653176 GeneRIF:15668644 GeneRIF:15683719 GeneRIF:15735209 GeneRIF:15750260 GeneRIF:15780075 GeneRIF:15780820 GeneRIF:15823283 GeneRIF:15855354 GeneRIF:15856070 GeneRIF:15859024 GeneRIF:15869613 GeneRIF:15939053 GeneRIF:16018179 GeneRIF:16028070 GeneRIF:16046727 GeneRIF:16102632 GeneRIF:16103519 GeneRIF:16109314 GeneRIF:16132053 GeneRIF:16159596 GeneRIF:16159602 GeneRIF:16161810 GeneRIF:16224057 GeneRIF:16260427 GeneRIF:16324215 ICD9:390-459.99 ICD9:420-429.99 ICD9:423 ICD9:423.8 ICD9:424 ICD9:429 ICD9:429.2 ICD9:429.7 ICD9:429.79 ICD9:429.8 ICD9:429.81 ICD9:429.89 ICD9:459.9 ILL-DEFINED HRT DIS NEC ILL-DEFINED HRT DIS NEC[accessedResource: ICD9:429.89][accessDate: 05-04-2011] Ill-defined descriptions and complications of heart disease Ill-defined descriptions and complications of heart disease[accessedResource: ICD9:429][accessDate: 05-04-2011] James Malone MSH:D002318 NCIt:C2931 OTHER SEQUELAE OF MI NEC OTHER SEQUELAE OF MI NEC[accessedResource: ICD9:429.79][accessDate: 05-04-2011] Other diseases of endocardium Other diseases of endocardium (disorder) Other diseases of endocardium (disorder)[accessedResource: SNOMEDCT:266241000][accessDate: 05-04-2011] Other diseases of endocardium[accessedResource: ICD9:424][accessDate: 05-04-2011] Other diseases of pericardium Other diseases of pericardium (disorder) Other diseases of pericardium (disorder)[accessedResource: SNOMEDCT:194962004][accessDate: 05-04-2011] Other diseases of pericardium[accessedResource: ICD9:423][accessDate: 05-04-2011] Other disorders of papillary muscle Other disorders of papillary muscle[accessedResource: ICD9:429.81][accessDate: 05-04-2011] Other forms of heart disease Other forms of heart disease (disorder) Other forms of heart disease (disorder)[accessedResource: SNOMEDCT:194901009][accessDate: 05-04-2011] Other forms of heart disease[accessedResource: SNOMEDCT:194901009][accessDate: 05-04-2011] Other heart disease Other heart disease (disorder) Other heart disease (disorder)[accessedResource: SNOMEDCT:266309008][accessDate: 05-04-2011] Other heart disease NOS Other heart disease NOS (disorder) Other heart disease NOS (disorder)[accessedResource: SNOMEDCT:195151008][accessDate: 05-04-2011] Other heart disease NOS[accessedResource: SNOMEDCT:195151008][accessDate: 05-04-2011] Other heart disease[accessedResource: SNOMEDCT:266309008][accessDate: 05-04-2011] Other ill-defined heart disease Other ill-defined heart disease (disorder) Other ill-defined heart disease (disorder)[accessedResource: SNOMEDCT:266251004][accessDate: 05-04-2011] Other ill-defined heart disease NOS Other ill-defined heart disease NOS (disorder) Other ill-defined heart disease NOS (disorder)[accessedResource: SNOMEDCT:195150009][accessDate: 05-04-2011] Other ill-defined heart disease NOS[accessedResource: SNOMEDCT:195150009][accessDate: 05-04-2011] Other ill-defined heart disease[accessedResource: SNOMEDCT:266251004][accessDate: 05-04-2011] Other ill-defined heart diseases Other ill-defined heart diseases[accessedResource: ICD9:429.8][accessDate: 05-04-2011] Other pericardial disease NOS Other pericardial disease NOS (disorder) Other pericardial disease NOS (disorder)[accessedResource: SNOMEDCT:266240004][accessDate: 05-04-2011] Other pericardial disease NOS[accessedResource: SNOMEDCT:266240004][accessDate: 05-04-2011] Other sequelae of myocardial infarction, not elsewhere classified Other sequelae of myocardial infarction, not elsewhere classified[accessedResource: ICD9:429.79][accessDate: 05-04-2011] Other specified diseases of pericardium Other specified diseases of pericardium[accessedResource: ICD9:423.8][accessDate: 05-04-2011] Other specified pericardial disease NOS Other specified pericardial disease NOS (disorder) Other specified pericardial disease NOS (disorder)[accessedResource: SNOMEDCT:266239001][accessDate: 05-04-2011] Other specified pericardial disease NOS[accessedResource: SNOMEDCT:266239001][accessDate: 05-04-2011] PAPILLARY MUSCLE DIS NEC PAPILLARY MUSCLE DIS NEC[accessedResource: ICD9:429.81][accessDate: 05-04-2011] PERICARDIAL DISEASE NEC PERICARDIAL DISEASE NEC[accessedResource: ICD9:423.8][accessDate: 05-04-2011] Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM. Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.[accessedResource: MSH:D002318][accessDate: 05-04-2011] SNOMEDCT:105980002 SNOMEDCT:194901009 SNOMEDCT:194962004 SNOMEDCT:195150009 SNOMEDCT:195151008 SNOMEDCT:195551001 SNOMEDCT:195553003 SNOMEDCT:195588003 SNOMEDCT:195594006 SNOMEDCT:195646003 SNOMEDCT:266239001 SNOMEDCT:266240004 SNOMEDCT:266241000 SNOMEDCT:266251004 SNOMEDCT:266309008 SNOMEDCT:49601007 Unspecified circulatory system disorder Unspecified circulatory system disorder[accessedResource: ICD9:459.9][accessDate: 05-04-2011] [X]Cardiovascular disease, unspecified [X]Cardiovascular disease, unspecified (disorder) [X]Cardiovascular disease, unspecified (disorder)[accessedResource: SNOMEDCT:195594006][accessDate: 05-04-2011] [X]Cardiovascular disease, unspecified[accessedResource: SNOMEDCT:195594006][accessDate: 05-04-2011] [X]Other forms of heart disease [X]Other forms of heart disease (disorder) [X]Other forms of heart disease (disorder)[accessedResource: SNOMEDCT:195551001][accessDate: 05-04-2011] [X]Other forms of heart disease[accessedResource: SNOMEDCT:195551001][accessDate: 05-04-2011] [X]Other ill-defined heart diseases [X]Other ill-defined heart diseases (disorder) [X]Other ill-defined heart diseases (disorder)[accessedResource: SNOMEDCT:195588003][accessDate: 05-04-2011] [X]Other ill-defined heart diseases[accessedResource: SNOMEDCT:195588003][accessDate: 05-04-2011] [X]Other specified diseases of pericardium [X]Other specified diseases of pericardium (disorder) [X]Other specified diseases of pericardium (disorder)[accessedResource: SNOMEDCT:195553003][accessDate: 05-04-2011] [X]Other specified diseases of pericardium[accessedResource: SNOMEDCT:195553003][accessDate: 05-04-2011] cardiovascular system disease[accessedResource: DOID:1287][accessDate: 05-04-2011] circulatory system disease disease of subdivision of hemolymphoid system disease of subdivision of hemolymphoid system[accessedResource: DOID:1287][accessDate: 05-04-2011] true obsolete_cell factor 1.8 James Malone class no longer needed for organizational purposes. Also hard to decide what an instance of a cell factor is. true cell line A cell line is a population of cells cultured in vitro that are descended through one or more generations (and possible sub-cultures) from a single primary culture which was originally derived from part of an organism. Atwood et al (2000) OED of Biochemistry and Molecular Biology, Oxford University Press. James Malone Jie Zheng MO_562 Tomasz Adamusiak cell_line cell_line[accessedResource: MO_562][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cell_line true cell property An attribute of a cell e.g. CD8+ BTO:0002322 CD8+ James Malone cell type A cell type is a distinct morphological or functional form of cell. Examples are epithelial, glial etc. James Malone Jie Zheng MO_548 Tomasz Adamusiak cell_type cell_type[accessedResource: MO_548][accessDate: 05-04-2011] epithelial, glial. http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cell_type true cellular modification James Malone RNAi The act of alteration or modification of a cell e.g. RNAi central nervous system cancer A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site. A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH). Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH).[accessedResource: NIFSTD:birnlex_12618][accessDate: 05-04-2011] CNS Cancer CNS Cancer[accessedResource: NCIt:C4627][accessDate: 05-04-2011] CNS Malignant Neoplasms CNS Malignant Neoplasms[accessedResource: NCIt:C4627][accessDate: 05-04-2011] CNS Neoplasms, Malignant CNS Neoplasms, Malignant[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Cancer of CNS Cancer of CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Cancer of Central Nervous System Cancer of Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Cancer of the CNS Cancer of the CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Cancer of the Central Nervous System Cancer of the Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Central Nervous System Neoplasms, Malignant Central Nervous System Neoplasms, Malignant[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Glial Cell Tumor Glial Cell Tumor[accessedResource: NIFSTD:birnlex_12618][accessDate: 05-04-2011] Glioma Glioma[accessedResource: NIFSTD:birnlex_12618][accessDate: 05-04-2011] James Malone MSH:D005910 Malignant CNS Neoplasm Malignant CNS Neoplasm[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant CNS Neoplasms Malignant CNS Neoplasms[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant CNS Tumor Malignant CNS Tumor[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Central Nervous System Neoplasm Malignant Central Nervous System Neoplasm[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Central Nervous System Tumor Malignant Central Nervous System Tumor[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Neoplasm of CNS Malignant Neoplasm of CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Neoplasm of Central Nervous System Malignant Neoplasm of Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Neoplasm of the CNS Malignant Neoplasm of the CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Neoplasm of the Central Nervous System Malignant Neoplasm of the Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Tumor of CNS Malignant Tumor of CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Tumor of Central Nervous System Malignant Tumor of Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Tumor of the CNS Malignant Tumor of the CNS[accessedResource: NCIt:C4627][accessDate: 05-04-2011] Malignant Tumor of the Central Nervous System Malignant Tumor of the Central Nervous System[accessedResource: NCIt:C4627][accessDate: 05-04-2011] NCIt:C4627 NIFSTD:birnlex_12618 Tomasz Adamusiak true obsolete_cerebellum A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe. A large dorsally projecting part of the brain concerned especially with the coordination of muscles and the maintenance of bodily equilibrium, situated between the brain stem and the back of the cerebrum , and formed in humans of two lateral lobes and a median lobe.[accessedResource: BTO:0000232][accessDate: 05-04-2011] BTO:0000232 Cerebellar Cerebellar[accessedResource: NCIt:C12445][accessDate: 05-04-2011] James Malone NCIt:C12445 NIFSTD:birnlex_1489 The portion of the brain located at the base of the skull that is responsible for balance, equilibrium and movement. The portion of the brain located at the base of the skull that is responsible for balance, equilibrium and movement.[accessedResource: NCIt:C12445][accessDate: 05-04-2011] Tomasz Adamusiak 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002037 label: cerebellum true obsolete_cerebral cortex BTO:0000233 Cortex of cerebral hemisphere[accessedResource: FMAID:61830][accessDate: 05-04-2011] Cortex of cerebrum Cortex of cerebrum[accessedResource: FMAID:61830][accessDate: 05-04-2011] EHDAA:5464 EMAPA:17544 EV:0100166 FBbt:00003625 FMAID:61830 James Malone MA:0000185 MAT:0000108 SAEL:20 Superficial layer of the brain, composed of glia and the cell bodies of neurons (soma). Superficial layer of the brain, composed of glia and the cell bodies of neurons (soma).[accessedResource: FBbt:00003625][accessDate: 05-04-2011] The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information. The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information.[accessedResource: BTO:0000233][accessDate: 05-04-2011] adult brain cortex adult brain cortex[accessedResource: FBbt:00003625][accessDate: 05-04-2011] brain cortex cortex of cerebral hemisphere pallium of the brain perikaryal rind perikaryal rind[accessedResource: FBbt:00003625][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0000956 label: cerebral cortex 2.38 obsolete_cerebrospinal fluid BTO:0000237 CSF CSF[accessedResource: NCIt:C12692][accessDate: 05-04-2011] Cerebral Spinal Fluid Cerebral Spinal Fluid[accessedResource: NCIt:C12692][accessDate: 05-04-2011] James Malone NCIt:C12692 The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord. The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord.[accessedResource: NCIt:C12692][accessDate: 05-04-2011] The serumlike fluid that circulates through the ventricles of the brain, the cavity of the spinal cord, and the subarachnoid space, functioning in shock absorption. The serumlike fluid that circulates through the ventricles of the brain, the cavity of the spinal cord, and the subarachnoid space, functioning in shock absorption.[accessedResource: BTO:0000237][accessDate: 05-04-2011] spinal fluid Use http://purl.obolibrary.org/obo/UBERON_0001359 label: cerebrospinal fluid 2.38 true childhood acute myeloid leukemia NIC Thesaurus: C9160 Tomasz Adamusiak chondroblastoma A benign, lytic neoplasm usually arising from the cartilage in epiphysis and metaphysis of bone. It is a well circumscribed tumor characterized by the presence of chondroblasts, osteoclast-like giant cells, myxoid stroma formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. The tumor occurs most frequently in children and young adults. A benign, lytic neoplasm usually arising from the cartilage in epiphysis and metaphysis of bone. It is a well circumscribed tumor characterized by the presence of chondroblasts, osteoclast-like giant cells, myxoid stroma formation, calcification, and mitotic activity. In aggressive cases, there is rearrangement of the 8q21 chromosome band. The tumor occurs most frequently in children and young adults.[accessedResource: NCIt:C2945][accessDate: 05-04-2011] A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846) A usually benign tumor composed of cells which arise from chondroblasts or their precursors and which tend to differentiate into cartilage cells. It occurs primarily in the epiphyses of adolescents. It is relatively rare and represents less than 2% of all primary bone tumors. The peak incidence is in the second decade of life; it is about twice as common in males as in females. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1846)[accessedResource: MSH:D002804][accessDate: 05-04-2011] Chondroblastoma (morphologic abnormality) Chondroblastoma (morphologic abnormality)[accessedResource: DOID:2649][accessDate: 05-04-2011] Chondroblastoma NOS (morphologic abnormality) Chondroblastoma NOS (morphologic abnormality)[accessedResource: DOID:2649][accessDate: 05-04-2011] Chondroblastoma morphology Chondroblastoma morphology[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011] Chondroblastoma of bone Chondroblastoma of bone[accessedResource: DOID:2649][accessDate: 05-04-2011] Chondroblastoma, NOS Chondroblastoma, NOS[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011] Chondroblastomas Chondroblastomas[accessedResource: MSH:D002804][accessDate: 05-04-2011] Chondromatous giant cell tumor Chondromatous giant cell tumor[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011] Chondromatous giant cell tumour Chondromatous giant cell tumour[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011] Codman's tumor Codman's tumor[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011] Codman's tumour Codman's tumour[accessedResource: SNOMEDCT:9001003][accessDate: 05-04-2011] DOID:2649 GeneRIF:13680221 James Malone MSH:D002804 NCIt:C2945 SNOMEDCT:189887007 SNOMEDCT:9001003 [M]Chondroblastoma NOS [M]Chondroblastoma NOS (morphologic abnormality) [M]Chondroblastoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189887007][accessDate: 05-04-2011] [M]Chondroblastoma NOS[accessedResource: SNOMEDCT:189887007][accessDate: 05-04-2011] chondromyxoid fibroma An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain.[accessedResource: NCIt:C3830][accessDate: 05-04-2011] CMF - Chondromyxoid fibroma CMF - Chondromyxoid fibroma[accessedResource: SNOMEDCT:39553005][accessDate: 05-04-2011] Chondromyxoid fibroma (morphologic abnormality) Chondromyxoid fibroma (morphologic abnormality)[accessedResource: SNOMEDCT:39553005][accessDate: 05-04-2011] DOID:2694 James Malone NCIt:C3830 SNOMEDCT:39553005 chondrosarcoma A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion. A malignant mesenchymal tumor arising from cartilage-forming tissues involving the bones. It affects middle-aged to elderly adults, and the pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.[accessedResource: NCIt:C2946][accessDate: 05-04-2011] A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed) A slowly growing malignant neoplasm derived from cartilage cells, occurring most frequently in pelvic bones or near the ends of long bones, in middle-aged and old people. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion or in patients with ENCHONDROMATOSIS. (Stedman, 25th ed)[accessedResource: MSH:D002813][accessDate: 05-04-2011] Chondrosarcoma morphology Chondrosarcoma morphology[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011] Chondrosarcoma, NOS Chondrosarcoma, NOS[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011] Chondrosarcoma, no ICD-O subtype Chondrosarcoma, no ICD-O subtype (morphologic abnormality) Chondrosarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011] Chondrosarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011] Chondrosarcomas Chondrosarcomas[accessedResource: MSH:D002813][accessDate: 05-04-2011] DOID:3371 Fibrochondrosarcoma Fibrochondrosarcoma[accessedResource: SNOMEDCT:14990007][accessDate: 05-04-2011] GeneRIF:11776394 GeneRIF:12021923 GeneRIF:12618336 GeneRIF:12736724 GeneRIF:14587027 GeneRIF:15226640 GeneRIF:15316669 GeneRIF:15475194 GeneRIF:15499569 GeneRIF:15534109 GeneRIF:15694358 GeneRIF:15796962 GeneRIF:16157221 GeneRIF:16288985 James Malone MSH:D002813 NCIt:C2946 OMIM:215300 SNOMEDCT:14990007 SNOMEDCT:189886003 Tomasz Adamusiak [M]Chondrosarcoma NOS [M]Chondrosarcoma NOS (morphologic abnormality) [M]Chondrosarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189886003][accessDate: 05-04-2011] [M]Chondrosarcoma NOS[accessedResource: SNOMEDCT:189886003][accessDate: 05-04-2011] chondrosarcoma (morphologic abnormality) chondrosarcoma (morphologic abnormality)[accessedResource: DOID:3371][accessDate: 05-04-2011] chondrosarcoma NOS (morphologic abnormality) chondrosarcoma NOS (morphologic abnormality)[accessedResource: DOID:3371][accessDate: 05-04-2011] chondrosarcoma of bone chondrosarcoma of bone[accessedResource: DOID:3371][accessDate: 05-04-2011] obsolete_chordoma A malignant bone tumor arising from the remnants of the fetal notochord. Although it can occur at all ages, it is more frequently seen in middle-aged adults. Most frequent sites of involvement are: sacrococcygeal area, spheno-occipital area, and the cervico-thoraco-lumbar spine. Microscopically, chordomas are composed of cells that form cords and lobules, separated by mucoid intercellular tissue. Some of the cells are large (physaliphorous) and have vacuolated cytoplasm and prominent vesicular nuclei. Other tumor cells are small with small nuclei without visible nucleoli. Chordomas tend to recur and may metastasize. The most common sites of metastasis are skin and bone. A malignant bone tumor arising from the remnants of the fetal notochord. Although it can occur at all ages, it is more frequently seen in middle-aged adults. Most frequent sites of involvement are: sacrococcygeal area, spheno-occipital area, and the cervico-thoraco-lumbar spine. Microscopically, chordomas are composed of cells that form cords and lobules, separated by mucoid intercellular tissue. Some of the cells are large (physaliphorous) and have vacuolated cytoplasm and prominent vesicular nuclei. Other tumor cells are small with small nuclei without visible nucleoli. Chordomas tend to recur and may metastasize. The most common sites of metastasis are skin and bone.[accessedResource: NCIt:C2947][accessDate: 05-04-2011] A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed) A malignant tumor arising from the embryonic remains of the notochord. It is also called chordocarcinoma, chordoepithelioma, and notochordoma. (Dorland, 27th ed)[accessedResource: MSH:D002817][accessDate: 05-04-2011] A notochordal cancer that derives_from cellular remnants of the notochord. A notochordal cancer that derives_from cellular remnants of the notochord.[accessedResource: DOID:3302][accessDate: 05-04-2011] Chordoma (morphologic abnormality) Chordoma (morphologic abnormality)[accessedResource: DOID:3302][accessDate: 05-04-2011] Chordomas Chordomas[accessedResource: MSH:D002817][accessDate: 05-04-2011] DOID:3302 GeneRIF:16288985 James Malone MSH:D002817 NCIt:C2947 SNOMEDCT:50007008 notochordoma notochordoma[accessedResource: DOID:3302][accessDate: 05-04-2011] true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_6023' instead. New Label : Chordoma chromophobe renal cell carcinoma A type of carcinoma that comprises a minority of renal cell carcinomas. It is characterized by loss of chromosomes 1 and Y. Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical) or eosinophilic. It has a much better prognosis than other renal cell carcinomas. A type of carcinoma that comprises a minority of renal cell carcinomas. It is characterized by loss of chromosomes 1 and Y. Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical) or eosinophilic. It has a much better prognosis than other renal cell carcinomas.[accessedResource: NCIt:C4146][accessDate: 05-04-2011] Chromophobe Carcinoma of Kidney Chromophobe Carcinoma of the Kidney Chromophobe Carcinoma of the Kidney[accessedResource: NCIt:C4146][accessDate: 05-04-2011] Chromophobe Cell Carcinoma of Kidney Chromophobe Cell Carcinoma of Kidney[accessedResource: NCIt:C4146][accessDate: 05-04-2011] Chromophobe Cell Carcinoma of the Kidney Chromophobe Cell Carcinoma of the Kidney[accessedResource: NCIt:C4146][accessDate: 05-04-2011] Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery. Chromophobe adenocarcinoma is a renal cell carcinoma described as the third most common type of renal cell carcinoma. The cancerous cells are similar with the clear cells, they appear pale when viewed under microscope, but there are larger and display different features than clear cells. This type of cancer rarely metastasizes, and the tumors can be successfully removed with surgery.[accessedResource: DOID:4471][accessDate: 05-04-2011] Chromophobe carcinoma Chromophobe carcinoma (morphologic abnormality) Chromophobe carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:1443001][accessDate: 05-04-2011] Chromophobe carcinoma of kidney[accessedResource: DOID:4471][accessDate: 05-04-2011] Chromophobe carcinoma[accessedResource: SNOMEDCT:1443001][accessDate: 05-04-2011] Chromophobe cell renal carcinoma Chromophobe cell renal carcinoma[accessedResource: SNOMEDCT:128667008][accessDate: 05-04-2011] DOID:4471 James Malone NCIt:C4146 Renal Cell Carcinoma, Chromophobe Type[accessedResource: NCIt:C4146][accessDate: 05-04-2011] Renal cell carcinoma, chromophobe cell (morphologic abnormality) Renal cell carcinoma, chromophobe cell (morphologic abnormality)[accessedResource: SNOMEDCT:128667008][accessDate: 05-04-2011] Renal cell carcinoma, chromophobe cell[accessedResource: SNOMEDCT:128667008][accessDate: 05-04-2011] SNOMEDCT:128667008 SNOMEDCT:1443001 chromophobe adenocarcinoma chromophobe adenocarcinoma[accessedResource: DOID:4471][accessDate: 05-04-2011] chromosomal aberration An irregularity in the number or structure of chromosomes, usually in the form of a gain (duplication), loss (deletion), exchange (translocation), or alteration in sequence (inversion) of genetic material. CH ChromosomalAberration ChromosomalAberration[accessedResource: MO_78][accessDate: 05-04-2011] Jie Zheng MO_78 Tomasz Adamusiak true chronic gastritis A stomach disease that is an inflammation of the lining of the stomach. A stomach disease that is an inflammation of the lining of the stomach.[accessedResource: DOID:4032][accessDate: 05-04-2011] CG - Chronic gastritis CG - Chronic gastritis[accessedResource: SNOMEDCT:8493009][accessDate: 05-04-2011] Chronic gastritis (disorder) Chronic gastritis NOS Chronic gastritis NOS (disorder) Chronic gastritis NOS[accessedResource: SNOMEDCT:196736000][accessDate: 05-04-2011] Chronic gastritis, NOS Chronic gastritis, NOS[accessedResource: SNOMEDCT:8493009][accessDate: 05-04-2011] DOID:4032 Erosive Gastritis Erosive Gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011] Erosive gastropathy (disorder) Erosive gastropathy (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] GASTRITIS HEMORRHAGIC GASTRITIS HEMORRHAGIC[accessedResource: DOID:4032][accessDate: 05-04-2011] Gastritis (disorder) Gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] Gastritis [Ambiguous] Gastritis [Ambiguous][accessedResource: DOID:4032][accessDate: 05-04-2011] Gastritis unspecified (disorder) Gastritis unspecified (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] GeneRIF:11642721 GeneRIF:12508351 GeneRIF:12738381 GeneRIF:15104366 GeneRIF:15962365 Hemorrhagic Gastritis Hemorrhagic Gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011] Idiopathic erosive/hemorrhagic gastritis (disorder) Idiopathic erosive/hemorrhagic gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] James Malone NCIt:C26929 Other specified gastritis Other specified gastritis (disorder) Other specified gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] Other specified gastritis NOS (disorder) Other specified gastritis NOS (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] Other specified gastritis, with hemorrhage Other specified gastritis, with hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011] Other specified gastritis, without mention of hemorrhage Other specified gastritis, without mention of hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011] Other specified gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011] SNOMEDCT:196736000 SNOMEDCT:8493009 acute gastric mucosal erosion (disorder) acute gastric mucosal erosion (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] acute gastritis acute gastritis (disorder) acute gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] acute gastritis with hemorrhage acute gastritis with hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011] acute gastritis without mention of hemorrhage acute gastritis without mention of hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011] acute gastritis, with hemorrhage acute gastritis, with hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011] acute gastritis, without mention of hemorrhage acute gastritis, without mention of hemorrhage[accessedResource: DOID:4032][accessDate: 05-04-2011] acute gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011] acute haemorrhagic gastritis acute haemorrhagic gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011] acute hemorrhagic gastritis (disorder) acute hemorrhagic gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] acute hemorrhagic gastritis [dup] (disorder) acute hemorrhagic gastritis [dup] (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] chronic gastritis (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] chronic gastritis NOS (disorder)[accessedResource: DOID:4032][accessDate: 05-04-2011] gastritis gastritis[accessedResource: DOID:4032][accessDate: 05-04-2011] obsolete_chronic granulomatous disease A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation.[accessedResource: MSH:D006105][accessDate: 05-04-2011] Bridges-Good syndrome Bridges-Good syndrome[accessedResource: DOID:3265][accessDate: 05-04-2011] CGD CGD - Chronic granulomatous disease CGD - Chronic granulomatous disease[accessedResource: SNOMEDCT:387759001][accessDate: 05-04-2011] CGD[accessedResource: NCIt:C26788][accessDate: 05-04-2011] Chronic Granulomatous Diseases Chronic Granulomatous Diseases[accessedResource: MSH:D006105][accessDate: 05-04-2011] Chronic granulomatous disease (disorder) Chronic granulomatous disease (disorder)[accessedResource: SNOMEDCT:387759001][accessDate: 05-04-2011] Congenital dysphagocytosis Congenital dysphagocytosis (disorder) Congenital dysphagocytosis (disorder)[accessedResource: SNOMEDCT:191352003][accessDate: 05-04-2011] Congenital dysphagocytosis[accessedResource: SNOMEDCT:191352003][accessDate: 05-04-2011] DOID:3265 Disease, Chronic Granulomatous Disease, Chronic Granulomatous[accessedResource: MSH:D006105][accessDate: 05-04-2011] Diseases, Chronic Granulomatous Diseases, Chronic Granulomatous[accessedResource: MSH:D006105][accessDate: 05-04-2011] GRANULOMATOUS DIS CHRONIC GRANULOMATOUS DIS CHRONIC[accessedResource: MSH:D006105][accessDate: 05-04-2011] GeneRIF:11462241 GeneRIF:12073015 GeneRIF:12213046 GeneRIF:12589359 GeneRIF:12817011 GeneRIF:15507755 GeneRIF:15777347 GeneRIF:16138344 Granulomatous Disease, Chronic Granulomatous Disease, Chronic[accessedResource: MSH:D006105][accessDate: 05-04-2011] Granulomatous Diseases, Chronic Granulomatous Diseases, Chronic[accessedResource: MSH:D006105][accessDate: 05-04-2011] James Malone MSH:D006105 NCIt:C26788 Quie syndrome Quie syndrome[accessedResource: DOID:3265][accessDate: 05-04-2011] SNOMEDCT:191352003 SNOMEDCT:387759001 chronic granulomatous disorder chronic granulomatous disorder[accessedResource: DOID:3265][accessDate: 05-04-2011] use 'http://www.orphanet.org/rdfns#pat_id_176' instead. New Label : Chronic granulomatous disease true 2.32 chronic myelogenous leukemia 1.4 CML CML - chronic Myelogenous Leukemia CML - chronic Myelogenous Leukemia[accessedResource: DOID:8552][accessDate: 05-04-2011] CML in Remission CML in Remission[accessedResource: DOID:8552][accessDate: 05-04-2011] CML[accessedResource: DOID:8552][accessDate: 05-04-2011] Chronic Granulocytic Leukemia Chronic Granulocytic Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011] Chronic Granulocytic Leukemias Chronic Granulocytic Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011] Chronic Myelocytic Leukemia Chronic Myelocytic Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011] Chronic Myelocytic Leukemias Chronic Myelocytic Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011] Chronic Myelogenous Leukemias Chronic Myelogenous Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011] Chronic Myeloid Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011] Chronic Myeloid Leukemias Chronic Myeloid Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011] Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS. Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS.[accessedResource: MSH:D015464][accessDate: 05-04-2011] DOID:8552 GeneRIF:11830496 GeneRIF:11861294 GeneRIF:11937267 GeneRIF:12130516 GeneRIF:12144533 GeneRIF:12351404 GeneRIF:12393722 GeneRIF:12408765 GeneRIF:12505259 GeneRIF:12576338 GeneRIF:12576428 GeneRIF:12734675 GeneRIF:12740446 GeneRIF:12821944 GeneRIF:12964051 GeneRIF:14523459 GeneRIF:14586403 GeneRIF:14656881 GeneRIF:15167915 GeneRIF:15213099 GeneRIF:15388581 GeneRIF:15481444 GeneRIF:15556610 GeneRIF:15569990 GeneRIF:15583852 GeneRIF:15621754 GeneRIF:15626746 GeneRIF:15676212 GeneRIF:15716990 GeneRIF:15735728 GeneRIF:15790787 GeneRIF:16361542 Granulocytic Leukemia, Chronic Granulocytic Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Granulocytic Leukemias, Chronic Granulocytic Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] ICD9:205.1 James Malone LEUKEMIA PHILA POS LEUKEMIA PHILA POS[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Chronic Granulocytic Leukemia, Chronic Granulocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Chronic Myelocytic Leukemia, Chronic Myelocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Chronic Myelogenous Leukemia, Chronic Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Chronic Myeloid Leukemia, Chronic Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Granulocytic, Chronic Leukemia, Granulocytic, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myelocytic, Chronic Leukemia, Myelocytic, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myelogenous, Chronic Leukemia, Myelogenous, Chronic, BCR-ABL Positive Leukemia, Myelogenous, Chronic, BCR-ABL Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myelogenous, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myelogenous, Ph1 Positive Leukemia, Myelogenous, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myelogenous, Ph1-Positive Leukemia, Myelogenous, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic-Phase Leukemia, Myeloid, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myeloid, Ph1 Positive Leukemia, Myeloid, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myeloid, Ph1-Positive Leukemia, Myeloid, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myeloid, Philadelphia Positive Leukemia, Myeloid, Philadelphia Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Myeloid, Philadelphia-Positive Leukemia, Myeloid, Philadelphia-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Ph1-Positive Myelogenous Leukemia, Ph1-Positive Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Ph1-Positive Myeloid Leukemia, Ph1-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemia, Philadelphia-Positive Myeloid Leukemia, Philadelphia-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemias, Chronic Granulocytic Leukemias, Chronic Granulocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemias, Chronic Myelocytic Leukemias, Chronic Myelocytic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemias, Chronic Myelogenous Leukemias, Chronic Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemias, Chronic Myeloid Leukemias, Chronic Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemias, Ph1-Positive Myelogenous Leukemias, Ph1-Positive Myelogenous[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemias, Ph1-Positive Myeloid Leukemias, Ph1-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011] Leukemias, Philadelphia-Positive Myeloid Leukemias, Philadelphia-Positive Myeloid[accessedResource: MSH:D015464][accessDate: 05-04-2011] MSH:D015464 Myelocytic Leukemia, Chronic Myelocytic Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myelocytic Leukemias, Chronic Myelocytic Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myelogenous Leukemia, Chronic Myelogenous Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myelogenous Leukemia, Ph1 Positive Myelogenous Leukemia, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myelogenous Leukemia, Ph1-Positive Myelogenous Leukemia, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myelogenous Leukemias, Chronic Myelogenous Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myelogenous Leukemias, Ph1-Positive Myelogenous Leukemias, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemia, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemia, Ph1 Positive Myeloid Leukemia, Ph1 Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemia, Ph1-Positive Myeloid Leukemia, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemia, Philadelphia Positive Myeloid Leukemia, Philadelphia Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemia, Philadelphia-Positive Myeloid Leukemia, Philadelphia-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemias, Chronic Myeloid Leukemias, Chronic[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemias, Ph1-Positive Myeloid Leukemias, Ph1-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid Leukemias, Philadelphia-Positive Myeloid Leukemias, Philadelphia-Positive[accessedResource: MSH:D015464][accessDate: 05-04-2011] Myeloid leukemia, chronic OMIM:608232 Ph1-Positive Myelogenous Leukemia Ph1-Positive Myelogenous Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011] Ph1-Positive Myelogenous Leukemias Ph1-Positive Myelogenous Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011] Ph1-Positive Myeloid Leukemia Ph1-Positive Myeloid Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011] Ph1-Positive Myeloid Leukemias Ph1-Positive Myeloid Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011] Philadelphia-Positive Myeloid Leukemia Philadelphia-Positive Myeloid Leukemia[accessedResource: MSH:D015464][accessDate: 05-04-2011] Philadelphia-Positive Myeloid Leukemias Philadelphia-Positive Myeloid Leukemias[accessedResource: MSH:D015464][accessDate: 05-04-2011] Tomasz Adamusiak chronic myelogenous leukemia, no ICD-O subtype (morphologic abnormality) chronic myelogenous leukemia, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:8552][accessDate: 05-04-2011] chronic myeloid leukaemia chronic myeloid leukaemia[accessedResource: DOID:8552][accessDate: 05-04-2011] chronic myeloid leukemia chronic myeloid leukemia NOS (disorder) chronic myeloid leukemia NOS (disorder)[accessedResource: DOID:8552][accessDate: 05-04-2011] chronic myeloid leukemia in remission chronic myeloid leukemia in remission (disorder) chronic myeloid leukemia in remission (disorder)[accessedResource: DOID:8552][accessDate: 05-04-2011] chronic myeloid leukemia in remission[accessedResource: DOID:8552][accessDate: 05-04-2011] chronic myeloid leukemia without mention of remission chronic myeloid leukemia without mention of remission[accessedResource: DOID:8552][accessDate: 05-04-2011] chronic myeloid leukemia, disease (disorder) chronic myeloid leukemia, disease (disorder)[accessedResource: DOID:8552][accessDate: 05-04-2011] true obsolete_chronic myeloid leukemia Clonal hematopoetic disorder caused by an acquired genetic defect in PLURIPOTENT STEM CELLS. It starts in MYELOID CELLS of the bone marrow, invades the blood and then other organs. The condition progresses from a stable, more indolent, chronic phase (LEUKEMIA, MYELOID, CHRONIC PHASE) lasting up to 7 years, to an advanced phase composed of an accelerated phase (LEUKEMIA, MYELOID, ACCELERATED PHASE) and BLAST CRISIS. DOID:8552 GeneRIF:11830496 GeneRIF:11861294 GeneRIF:11937267 GeneRIF:12130516 GeneRIF:12144533 GeneRIF:12351404 GeneRIF:12393722 GeneRIF:12408765 GeneRIF:12505259 GeneRIF:12576338 GeneRIF:12576428 GeneRIF:12734675 GeneRIF:12740446 GeneRIF:12821944 GeneRIF:12964051 GeneRIF:14523459 GeneRIF:14586403 GeneRIF:14656881 GeneRIF:15167915 GeneRIF:15213099 GeneRIF:15388581 GeneRIF:15481444 GeneRIF:15556610 GeneRIF:15569990 GeneRIF:15583852 GeneRIF:15621754 GeneRIF:15626746 GeneRIF:15676212 GeneRIF:15716990 GeneRIF:15735728 GeneRIF:15790787 GeneRIF:16361542 ICD9:205.1 James Malone MSH:D015464 Obsolete: Duplication: use EFO_0000339 instead true chronic obstructive pulmonary disease A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema. A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.[accessedResource: NCIt:C3199][accessDate: 05-04-2011] A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA. A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.[accessedResource: MSH:D029424][accessDate: 05-04-2011] A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema. Airflow Obstruction, Chronic Airflow Obstruction, Chronic[accessedResource: MSH:D029424][accessDate: 05-04-2011] Airflow Obstructions, Chronic Airflow Obstructions, Chronic[accessedResource: MSH:D029424][accessDate: 05-04-2011] CAFL - Chronic airflow limitation CAFL - Chronic airflow limitation[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] CAL - Chronic airflow limitation CAL - Chronic airflow limitation[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] CAO - Chronic airflow obstruction CAO - Chronic airflow obstruction[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] CHRONIC OBSTRUCTIVE AIRWAY DIS CHRONIC OBSTRUCTIVE AIRWAY DIS[accessedResource: MSH:D029424][accessDate: 05-04-2011] CHRONIC OBSTRUCTIVE LUNG DIS CHRONIC OBSTRUCTIVE LUNG DIS[accessedResource: MSH:D029424][accessDate: 05-04-2011] CHRONIC OBSTRUCTIVE PULM DIS CHRONIC OBSTRUCTIVE PULM DIS[accessedResource: MSH:D029424][accessDate: 05-04-2011] CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD) CHRONIC OBSTRUCTIVE PULMONARY DISEASE, (COPD)[accessedResource: NCIt:C3199][accessDate: 05-04-2011] COAD COAD - Chronic obstructive airways disease COAD - Chronic obstructive airways disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] COAD[accessedResource: MSH:D029424][accessDate: 05-04-2011] COLD COLD (chronic obstructive lung disease) COLD (chronic obstructive lung disease)[accessedResource: DOID:3083][accessDate: 05-04-2011] COLD - Chronic obstructive lung disease COLD - Chronic obstructive lung disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] COLD[accessedResource: NCIt:C3199][accessDate: 05-04-2011] COPD COPD - Chronic obstructive pulmonary disease COPD - Chronic obstructive pulmonary disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] COPD NOS COPD NOS[accessedResource: DOID:3083][accessDate: 05-04-2011] COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE COPD, CHRONIC OBSTRUCTIVE PULMONARY DISEASE[accessedResource: NCIt:C3199][accessDate: 05-04-2011] COPD[accessedResource: DOID:3083][accessDate: 05-04-2011] Chronic Airflow Obstruction Chronic Airflow Obstruction[accessedResource: MSH:D029424][accessDate: 05-04-2011] Chronic Airflow Obstructions Chronic Airflow Obstructions[accessedResource: MSH:D029424][accessDate: 05-04-2011] Chronic Obstructive Airway Disease[accessedResource: MSH:D029424][accessDate: 05-04-2011] Chronic Obstructive Airways Disease Chronic Obstructive Airways Disease[accessedResource: NCIt:C3199][accessDate: 05-04-2011] Chronic Obstructive Lung Disease Chronic Obstructive Pulmonary Disease (COPD) Chronic Obstructive Pulmonary Disease (COPD)[accessedResource: NCIt:C3199][accessDate: 05-04-2011] Chronic airflow limitation Chronic airflow limitation[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] Chronic airway disease Chronic airway disease[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] Chronic airway obstruction Chronic airway obstruction[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] Chronic irreversible airway obstruction Chronic irreversible airway obstruction[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] Chronic obstructive airways disease NOS[accessedResource: SNOMEDCT:196003006][accessDate: 05-04-2011] Chronic obstructive lung disease, NEC Chronic obstructive lung disease, NEC[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] Chronic obstructive lung disease, NOS Chronic obstructive lung disease, NOS[accessedResource: SNOMEDCT:13645005][accessDate: 05-04-2011] Chronic obstructive pulmonary disease NOS Chronic obstructive pulmonary disease NOS[accessedResource: SNOMEDCT:196003006][accessDate: 05-04-2011] Chronic obstructive pulmonary disease finding Chronic obstructive pulmonary disease finding (finding) Chronic obstructive pulmonary disease finding (finding)[accessedResource: SNOMEDCT:413846005][accessDate: 05-04-2011] Chronic obstructive pulmonary disease finding[accessedResource: SNOMEDCT:413846005][accessDate: 05-04-2011] DISEASE (COPD), CHRONIC OBSTRUCTIVE DISEASE (COPD), CHRONIC OBSTRUCTIVE[accessedResource: NCIt:C3199][accessDate: 05-04-2011] DOID:3083 Dops GeneRIF:10413721 GeneRIF:11667971 GeneRIF:11757623 GeneRIF:11829455 GeneRIF:11953106 GeneRIF:12016104 GeneRIF:12137602 GeneRIF:12172904 GeneRIF:12761563 GeneRIF:12816735 GeneRIF:12838617 GeneRIF:12838770 GeneRIF:12853070 GeneRIF:12861851 GeneRIF:12884528 GeneRIF:12921631 GeneRIF:14530202 GeneRIF:14676438 GeneRIF:14718422 GeneRIF:14720432 GeneRIF:14985398 GeneRIF:15038404 GeneRIF:15039137 GeneRIF:15175276 GeneRIF:15596681 GeneRIF:15702235 GeneRIF:15718407 GeneRIF:15723202 GeneRIF:15766560 GeneRIF:15795697 GeneRIF:15820782 GeneRIF:15843147 GeneRIF:15994391 GeneRIF:16002569 GeneRIF:16081882 GeneRIF:16126934 GeneRIF:16166745 GeneRIF:16236890 James Malone MSH:D029424 NCIt:C3199 OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC[accessedResource: NCIt:C3199][accessDate: 05-04-2011] OMIM:606963 PULM DIS CHRONIC OBSTRUCTIVE PULM DIS CHRONIC OBSTRUCTIVE[accessedResource: MSH:D029424][accessDate: 05-04-2011] PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE PULMONARY DISEASE (COPD), CHRONIC OBSTRUCTIVE[accessedResource: NCIt:C3199][accessDate: 05-04-2011] Pulmonary Disease, Chronic Obstructive Pulmonary Disease, Chronic Obstructive[accessedResource: MSH:D029424][accessDate: 05-04-2011] SNOMEDCT:13645005 SNOMEDCT:196003006 SNOMEDCT:413846005 Tomasz Adamusiak chronic airway obstruction, NEC in ICD9CM_2006 chronic airway obstruction, not elsewhere classified chronic obstructive airway disease chronic obstructive airways disease NOS chronic obstructive airways disease NOS (disorder) chronic obstructive airways disease NOS (disorder)[accessedResource: DOID:3083][accessDate: 05-04-2011] chronic obstructive lung disease (disorder) chronic obstructive lung disease (disorder)[accessedResource: DOID:3083][accessDate: 05-04-2011] chronic obstructive lung disease [Ambiguous] chronic obstructive lung disease [Ambiguous][accessedResource: DOID:3083][accessDate: 05-04-2011] chronic obstructive lung disease[accessedResource: DOID:3083][accessDate: 05-04-2011] chronic obstructive pulmonary disease and allied conditions true chronic pancreatitis CP - Chronic pancreatitis CP - Chronic pancreatitis[accessedResource: SNOMEDCT:235494005][accessDate: 05-04-2011] Chronic pancreatitis (disorder) Chronic pancreatitis (disorder)[accessedResource: SNOMEDCT:235494005][accessDate: 05-04-2011] DOID:13315 GeneRIF:11950817 GeneRIF:12131767 GeneRIF:12142743 GeneRIF:12647793 GeneRIF:12808117 GeneRIF:14657708 GeneRIF:15066699 GeneRIF:15097853 GeneRIF:15097871 GeneRIF:15749232 GeneRIF:15802940 GeneRIF:15855826 ICD9:577.1 INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse. INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse.[accessedResource: MSH:D050500][accessDate: 05-04-2011] James Malone MSH:D050500 OMIM:167800 Pancreatitis, Chronic Pancreatitis, Chronic[accessedResource: MSH:D050500][accessDate: 05-04-2011] Pancreatitis, recurrent Recurrent pancreatitis Recurrent pancreatitis (disorder) Recurrent pancreatitis (disorder)[accessedResource: SNOMEDCT:233870001][accessDate: 05-04-2011] Recurrent pancreatitis[accessedResource: SNOMEDCT:233870001][accessDate: 05-04-2011] Relapsing pancreatitis Relapsing pancreatitis (disorder) Relapsing pancreatitis (disorder)[accessedResource: SNOMEDCT:234689009][accessDate: 05-04-2011] Relapsing pancreatitis[accessedResource: SNOMEDCT:233870001][accessDate: 05-04-2011] SNOMEDCT:233870001 SNOMEDCT:234689009 SNOMEDCT:235494005 Tomasz Adamusiak chronic pancreatitis (disorder) [Ambiguous] obsolete_cingulate cortex James Malone NCIt:C52713 NIFSTD:birnlex_934 Tomasz Adamusiak cingulate cortex homogenate Use http://purl.obolibrary.org/obo/UBERON_0003027 label: cingulate cortex true 2.38 circular visceral mesoderm primordium FBbt:00017015 James Malone P1 ViMus Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when 2 distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut. Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut. Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut.[accessedResource: FBbt:00017015][accessDate: 05-04-2011] circular visceral muscle precursor circular visceral muscle primordium circular visceral muscle primordium[accessedResource: FBbt:00017015][accessDate: 05-04-2011] splanchopleura circular visceral muscle fibers FBbt:00005072 James Malone circular visceral muscle fiber circular visceral muscle fiber[accessedResource: FBbt:00005072][accessDate: 05-04-2011] obsolete_classical Hodgkin's lymphoma 1.5 A monoclonal B-cell lymphoproliferation in the vast majority of cases. It is characterized by a bimodal age distribution (15-30 years of life and late life) and is often associated with EBV infection. In less than 5% of cases it is a monoclonal proliferation of T-lymphocytes. Morphologically, it is characterized by the presence of Reed-Sternberg cells and mononuclear Hodgkin cells. The Reed-Sternberg and mononuclear Hodgkin cells are CD30 positive in nearly all cases and CD15 positive in the majority of cases. C7164 Duplicate with Hodgkin's lymphoma (EFO_0000183) James Malone true classifier prediction An extrapolation into the future of data into a class with specified label. James Malone clear cell adenocarcinoma A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid. A malignant neoplasm composed of glandular epithelial clear cells. Various architectural patterns may be seen, including papillary, tubulocystic, and solid.[accessedResource: NCIt:C3766][accessDate: 05-04-2011] Adenocarcinoma, Clear Cell Adenocarcinoma, Clear Cell[accessedResource: MSH:D018262][accessDate: 05-04-2011] Adenocarcinomas, Clear Cell Adenocarcinomas, Clear Cell[accessedResource: MSH:D018262][accessDate: 05-04-2011] An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed) An adenocarcinoma characterized by the presence of varying combinations of clear and hobnail-shaped tumor cells. There are three predominant patterns described as tubulocystic, solid, and papillary. These tumors, usually located in the female reproductive organs, have been seen more frequently in young women since 1970 as a result of the association with intrauterine exposure to diethylstilbestrol. (From Holland et al., Cancer Medicine, 3d ed)[accessedResource: MSH:D018262][accessDate: 05-04-2011] Cell Adenocarcinoma, Clear Cell Adenocarcinoma, Clear[accessedResource: MSH:D018262][accessDate: 05-04-2011] Cell Adenocarcinomas, Clear Cell Adenocarcinomas, Clear[accessedResource: MSH:D018262][accessDate: 05-04-2011] Clear Cell Adenocarcinomas Clear Cell Adenocarcinomas[accessedResource: MSH:D018262][accessDate: 05-04-2011] Clear cell adenocarcinoma (morphologic abnormality) Clear cell adenocarcinoma (morphologic abnormality)[accessedResource: DOID:4468][accessDate: 05-04-2011] Clear cell adenocarcinoma NOS (morphologic abnormality) Clear cell adenocarcinoma NOS (morphologic abnormality)[accessedResource: DOID:4468][accessDate: 05-04-2011] Clear cell adenocarcinoma, NOS Clear cell adenocarcinoma, NOS[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011] Clear cell adenocarcinoma, mesonephroid Clear cell adenocarcinoma, mesonephroid[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011] Clear cell carcinoma[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011] DOID:4468 GeneRIF:12086860 GeneRIF:12937142 GeneRIF:12970394 GeneRIF:14559803 GeneRIF:14633622 GeneRIF:14722919 GeneRIF:14729622 GeneRIF:15102668 GeneRIF:15297970 GeneRIF:15489654 GeneRIF:15884099 James Malone MSH:D018262 Mesonephroid Clear Cell Carcinoma[accessedResource: NCIt:C3766][accessDate: 05-04-2011] Mesonephroid Clear cell carcinoma Mesonephroid clear cell adenocarcinoma Mesonephroid clear cell adenocarcinoma[accessedResource: SNOMEDCT:30546008][accessDate: 05-04-2011] NCIt:C3766 SNOMEDCT:189633003 SNOMEDCT:30546008 [M]Clear cell adenocarcinoma NOS [M]Clear cell adenocarcinoma NOS (morphologic abnormality) [M]Clear cell adenocarcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189633003][accessDate: 05-04-2011] [M]Clear cell adenocarcinoma NOS[accessedResource: SNOMEDCT:189633003][accessDate: 05-04-2011] clear cell carcinoma clear cell renal carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.[accessedResource: NCIt:C4033][accessDate: 05-04-2011] A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney. A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney.[accessedResource: DOID:4467][accessDate: 05-04-2011] Clear Cell Adenocarcinoma of Kidney Clear Cell Adenocarcinoma of Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Clear Cell Adenocarcinoma of the Kidney Clear Cell Adenocarcinoma of the Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Clear Cell Adenocarcinoma, Kidney Clear Cell Adenocarcinoma, Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Clear Cell Carcinoma of the Kidney Clear Cell Carcinoma of the Kidney[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Clear Cell Renal Cell Carcinoma Clear Cell Renal Cell Carcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Clear cell carcinoma of kidney (disorder) Clear cell carcinoma of kidney (disorder)[accessedResource: DOID:4467][accessDate: 05-04-2011] Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney. Conventional (Clear Cell) Renal Cell Adenocarcinoma Conventional (Clear Cell) Renal Cell Adenocarcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Conventional Renal Cell Carcinoma DOID:4467 GeneRIF:12576453 GeneRIF:14550470 GeneRIF:15062033 GeneRIF:15709172 Grawitz Tumor Grawitz Tumor[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Hypernephroma Hypernephroma[accessedResource: NCIt:C4033][accessDate: 05-04-2011] James Malone Kidney Clear Cell Adenocarcinoma Kidney Clear Cell Adenocarcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Kidney Clear Cell Carcinoma Kidney Clear Cell Carcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011] NCIt:C4033 OMIM:144700 Renal Clear Cell Adenocarcinoma Renal Clear Cell Adenocarcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Renal Clear Cell Carcinoma Renal Clear Cell Carcinoma[accessedResource: NCIt:C4033][accessDate: 05-04-2011] Tomasz Adamusiak clear cell carcinoma of kidney clear cell carcinoma of kidney[accessedResource: DOID:4467][accessDate: 05-04-2011] conventional (Clear cell) renal cell carcinoma conventional (Clear cell) renal cell carcinoma[accessedResource: DOID:4467][accessDate: 05-04-2011] conventional renal cell carcinoma[accessedResource: DOID:4467][accessDate: 05-04-2011] clear cell sarcoma of the kidney A clear cell sarcoma and sarcoma of kidney that can spread from the kidney to other organs. A clear cell sarcoma and sarcoma of kidney that can spread from the kidney to other organs.[accessedResource: DOID:4880][accessDate: 05-04-2011] A clear cell sarcoma that can spread from the kidney to other organs. A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones. A rare pediatric sarcoma affecting the kidney. It is characterized by the presence of epithelioid or spindle cells forming cords or nests, separated by fibrovascular septa. This type of sarcoma frequently metastasizes to the bones.[accessedResource: NCIt:C4264][accessDate: 05-04-2011] CCSK CCSK[accessedResource: NCIt:C4264][accessDate: 05-04-2011] Childhood Clear Cell Sarcoma of the Kidney Childhood Clear Cell Sarcoma of the Kidney[accessedResource: NCIt:C4264][accessDate: 05-04-2011] Childhood Kidney Clear Cell Sarcoma Childhood Kidney Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011] Childhood Renal Clear Cell Sarcoma Childhood Renal Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011] Clear Cell Sarcoma of Kidney Clear Cell Sarcoma of Kidney[accessedResource: NCIt:C4264][accessDate: 05-04-2011] Clear cell sarcoma of kidney (morphologic abnormality) Clear cell sarcoma of kidney (morphologic abnormality)[accessedResource: DOID:4880][accessDate: 05-04-2011] Clear cell sarcoma of kidney (morphologic abnormality)[accessedResource: SNOMEDCT:24007003][accessDate: 05-04-2011] DOID:4880 James Malone Kidney Clear Cell Sarcoma Kidney Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011] NCIt:C4264 Pediatric Kidney Clear Cell Sarcoma Pediatric Kidney Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011] Pediatric Renal Clear Cell Sarcoma Pediatric Renal Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011] Renal Clear Cell Sarcoma[accessedResource: NCIt:C4264][accessDate: 05-04-2011] SNOMEDCT:189813000 SNOMEDCT:24007003 [M] Clear cell sarcoma of kidney [M] Clear cell sarcoma of kidney (morphologic abnormality) [M] Clear cell sarcoma of kidney (morphologic abnormality)[accessedResource: SNOMEDCT:189813000][accessDate: 05-04-2011] [M] Clear cell sarcoma of kidney[accessedResource: SNOMEDCT:189813000][accessDate: 05-04-2011] renal Clear cell sarcoma obsolete_clinical factor A clincal factors is a biomaterial factor that concerns the observation, treatment or measurement of disease within subjects. James Malone true clinical history ClinicalHistory ClinicalHistory[accessedResource: MO_189][accessDate: 05-04-2011] Is an information entity about the material's (i.e., the patient's) medical record as background information relevant to the experiment. James Malone Jie Zheng MO_189 Tomasz Adamusiak clinical information obsolete_clinical history age The time period elapsed since an identifiable point in the life cycle of an organism. If a developmental stage is specified, the identifiable point would be the beginning of that stage. true obsolete_clinical information true clinical treatment protocol A clinical treatment is a treatment of some organism designed to have some clinical effect, for example the treatment of a disease E.g. radiotherapy James Malone Jie Zheng MO_384 Tomasz Adamusiak clinical_treatment clinical_treatment[accessedResource: MO_384][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#clinical_treatment radiotherapy clypeo-labral primordium ClyP2 FBbt:00005538 James Malone obsolete_cochlea structure A division of the bony labyrinth of the inner ear of higher vertebrates that is usually coiled like a snail shell and is the seat of the hearing organ. A division of the bony labyrinth of the inner ear of higher vertebrates that is usually coiled like a snail shell and is the seat of the hearing organ.[accessedResource: BTO:0000267][accessDate: 05-04-2011] BTO:0000267 Cochlea Cochlea[accessedResource: NCIt:C12395][accessDate: 05-04-2011] Cochlear Cochlear Organ Cochlear Organ[accessedResource: NCIt:C12395][accessDate: 05-04-2011] Cochlear part of bony labyrinth[accessedResource: FMAID:60201][accessDate: 05-04-2011] Cochlear[accessedResource: NCIt:C12395][accessDate: 05-04-2011] EHDAA:4716 EMAPA:17597 EV:0100363 FMAID:60201 James Malone MA:0000240 MAT:0000144 NCIt:C12395 NIFSTD:birnlex_1190 SAEL:21 The snail shell-shaped auditory component of the inner ear. It contains the sensory organ of hearing. The snail shell-shaped auditory component of the inner ear. It contains the sensory organ of hearing.[accessedResource: NCIt:C12395][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000197 cochlear part of bony labyrinth Use http://purl.obolibrary.org/obo/UBERON_0001844 label: cochlea true 2.38 obsolete_cockayne syndrome A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging. A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.[accessedResource: DOID:2962][accessDate: 05-04-2011] A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms. A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.[accessedResource: MSH:D003057][accessDate: 05-04-2011] An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function. An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.[accessedResource: NCIt:C9460][accessDate: 05-04-2011] Caused by mutations of gene CKN1. Caused by mutations of gene CKN1.[accessedResource: MSH:D003057][accessDate: 05-04-2011] Caused by mutations of gene ERCC6. Caused by mutations of gene ERCC6.[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome Type 3 Cockayne Syndrome Type 3[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome Type C Cockayne Syndrome Type C[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Group A Cockayne Syndrome, Group A[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Group B Cockayne Syndrome, Group B[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Group C Cockayne Syndrome, Group C[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Type A Cockayne Syndrome, Type A[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Type B Cockayne Syndrome, Type B[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Type C Cockayne Syndrome, Type C[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Type I Cockayne Syndrome, Type II Cockayne Syndrome, Type III Cockayne Syndrome, Type III[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Type II[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne Syndrome, Type I[accessedResource: MSH:D003057][accessDate: 05-04-2011] Cockayne syndrome (disorder) Cockayne syndrome (disorder)[accessedResource: SNOMEDCT:21086008][accessDate: 05-04-2011] Cockayne's syndrome Cokayne syndrome Cokayne syndrome[accessedResource: SNOMEDCT:21086008][accessDate: 05-04-2011] DOID:2962 Dwarfism-retinal atrophy-deafness syndrome Dwarfism-retinal atrophy-deafness syndrome[accessedResource: SNOMEDCT:21086008][accessDate: 05-04-2011] GeneRIF:11809892 GeneRIF:12095617 GeneRIF:12748643 GeneRIF:15082767 GeneRIF:16246722 Group A Cockayne Syndrome Group A Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Group B Cockayne Syndrome Group B Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Group C Cockayne Syndrome Group C Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] James Malone MSH:D003057 NCIt:C9460 Progeria Like Syndrome Progeria Like Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Progeria-Like Syndrome Progeria-Like Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Progeria-Like Syndromes Progeria-Like Syndromes[accessedResource: MSH:D003057][accessDate: 05-04-2011] SNOMEDCT:21086008 Syndrome, Cockayne Syndrome, Cockayne[accessedResource: MSH:D003057][accessDate: 05-04-2011] Syndrome, Progeria-Like Syndrome, Progeria-Like[accessedResource: MSH:D003057][accessDate: 05-04-2011] Type A Cockayne Syndrome Type A Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Type B Cockayne Syndrome Type B Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Type C Cockayne Syndrome Type C Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore. Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.[accessedResource: MSH:D003057][accessDate: 05-04-2011] Type I Cockayne Syndrome Type I Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Type II Cockayne Syndrome Type II Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] Type III Cockayne Syndrome Type III Cockayne Syndrome[accessedResource: MSH:D003057][accessDate: 05-04-2011] 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_638' instead. New Label : Cockayne syndrome obsolete_colorectal tumor 2.8 Duplicate with colorectal adenocarcinoma EFO_0000365 James Malone true obsolete_colon BTO:0000269 EMAPA:18939 EV:0100079 FMAID:14543 James Malone MA:0000335 MAP:0000001 SAEL:22 The part of the large intestine measured from the cecum to the rectum consisting of ascending, transverse, descending and sigmoid portions. The purpose of the colon is to remove water from digested food prior to excretion. The part of the large intestine that extends from the cecum to the rectum. The part of the large intestine that extends from the cecum to the rectum.[accessedResource: BTO:0000269][accessDate: 05-04-2011] The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates.[accessedResource: ZFA:0000706][accessDate: 05-04-2011] XAO:0000243 ZFA:0000706 posterior intestine posterior intestine[accessedResource: ZFA:0000706][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001155 label: colon obsolete_colon adenocarcinoma 2.6.1 An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease. DOID:234 GeneRIF:11731423 GeneRIF:12019353 GeneRIF:12383707 GeneRIF:12878221 GeneRIF:12918105 GeneRIF:14666619 GeneRIF:15069532 GeneRIF:15161648 GeneRIF:15517914 GeneRIF:15526283 GeneRIF:15546874 GeneRIF:15865210 GeneRIF:15894926 James Malone NCIt:C4349 Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma true obsolete_colon carcinoma 2.6.1 A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004 DOID:1520 GeneRIF:11731434 GeneRIF:11819805 GeneRIF:11920461 GeneRIF:12030384 GeneRIF:12055189 GeneRIF:12090473 GeneRIF:12149254 GeneRIF:12151344 GeneRIF:12185585 GeneRIF:12189558 GeneRIF:12209584 GeneRIF:12210751 GeneRIF:12427560 GeneRIF:12466967 GeneRIF:12515621 GeneRIF:12517779 GeneRIF:12664617 GeneRIF:12670495 GeneRIF:12697807 GeneRIF:12820726 GeneRIF:12847090 GeneRIF:12957362 GeneRIF:14500642 GeneRIF:14533006 GeneRIF:14566823 GeneRIF:14581351 GeneRIF:14691449 GeneRIF:14707484 GeneRIF:14715257 GeneRIF:15259074 GeneRIF:15454490 GeneRIF:15480430 GeneRIF:15492751 GeneRIF:15559761 GeneRIF:15632146 GeneRIF:15637741 GeneRIF:15655830 GeneRIF:15688023 GeneRIF:15750621 GeneRIF:15942645 GeneRIF:16164044 GeneRIF:16192633 GeneRIF:16199102 GeneRIF:16278666 James Malone NCIt:C4910 SNOMEDCT:269533000 Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma true colon mucinous adenocarcinoma An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion. An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colloid Adenocarcinoma of Colon Colloid Adenocarcinoma of Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colloid Adenocarcinoma of the Colon Colloid Adenocarcinoma of the Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colloid Colon Adenocarcinoma Colloid Colon Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colloidal Adenocarcinoma of Colon Colloidal Adenocarcinoma of Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colloidal Adenocarcinoma of the Colon Colloidal Adenocarcinoma of the Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colloidal Colon Adenocarcinoma Colloidal Colon Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colon Colloid Adenocarcinoma Colon Colloid Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colon Colloidal Adenocarcinoma Colon Colloidal Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colonic Colloid Adenocarcinoma Colonic Colloid Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colonic Colloidal Adenocarcinoma Colonic Colloidal Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colonic Mucinous Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Colonic mucinous adenocarcinoma DOID:3029 James Malone Mucinous Adenocarcinoma of Colon Mucinous Adenocarcinoma of Colon[accessedResource: NCIt:C7966][accessDate: 05-04-2011] Mucinous Colon Adenocarcinoma Mucinous Colon Adenocarcinoma[accessedResource: NCIt:C7966][accessDate: 05-04-2011] NCIt:C7966 mucinous adenocarcinoma of the colon mucinous adenocarcinoma of the colon[accessedResource: DOID:3029][accessDate: 05-04-2011] colorectal adenocarcinoma A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004 A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004[accessedResource: NCIt:C4910][accessDate: 05-04-2011] Adenocarcinoma of the Colon[accessedResource: NCIt:C4349][accessDate: 05-04-2011] An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease. An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.[accessedResource: NCIt:C4349][accessDate: 05-04-2011] COLORECTAL NEOPL COLORECTAL NEOPL[accessedResource: MSH:D015179][accessDate: 05-04-2011] Cancer, Colorectal Cancer, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] Cancers, Colorectal Cancers, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] Carcinoma of Colon[accessedResource: NCIt:C4910][accessDate: 05-04-2011] Carcinoma of the Colon Carcinoma of the Colon[accessedResource: NCIt:C4910][accessDate: 05-04-2011] Carcinoma, Colorectal Carcinoma, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] Carcinomas, Colorectal Carcinomas, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colon Cancer Colon Cancer[accessedResource: NCIt:C4910][accessDate: 05-04-2011] Colonic Adenocarcinoma[accessedResource: NCIt:C4349][accessDate: 05-04-2011] Colonic Carcinoma Colonic Carcinoma[accessedResource: NCIt:C4910][accessDate: 05-04-2011] Colonic adenocarcinoma Colorectal Cancer Colorectal Cancer[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colorectal Cancers Colorectal Cancers[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colorectal Carcinoma Colorectal Carcinoma[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colorectal Carcinomas Colorectal Carcinomas[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colorectal Neoplasm Colorectal Neoplasm[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colorectal Neoplasms Colorectal Neoplasms[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colorectal Tumor Colorectal Tumor[accessedResource: MSH:D015179][accessDate: 05-04-2011] Colorectal Tumors Colorectal Tumors[accessedResource: MSH:D015179][accessDate: 05-04-2011] DOID:1520 DOID:234 DOID:9256 MSH:D015179 NCIt:C4349 NCIt:C4910 NEOPL COLORECTAL NEOPL COLORECTAL[accessedResource: MSH:D015179][accessDate: 05-04-2011] Neoplasm, Colorectal Neoplasm, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] Neoplasms, Colorectal Neoplasms, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] OMIM:114500 Tomasz Adamusiak Tumor, Colorectal Tumor, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI. Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.[accessedResource: MSH:D015179][accessDate: 05-04-2011] Tumors, Colorectal Tumors, Colorectal[accessedResource: MSH:D015179][accessDate: 05-04-2011] adenocarcinoma of colon adenocarcinoma of colon[accessedResource: DOID:234][accessDate: 05-04-2011] adenocarcinoma of the colon carcinoma of colon carcinoma of colon (disorder) carcinoma of colon (disorder)[accessedResource: DOID:1520][accessDate: 05-04-2011] colon adenocarcinoma colon adenocarcinoma[accessedResource: DOID:234][accessDate: 05-04-2011] colon carcinoma colon carcinoma[accessedResource: DOID:1520][accessDate: 05-04-2011] rectal carcinoma true obsolete_common variable immunodeficiency A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).[accessedResource: DOID:12177][accessDate: 05-04-2011] A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development. A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.[accessedResource: NCIt:C26725][accessDate: 05-04-2011] Acquired Agammaglobulinemia[accessedResource: NCIt:C26725][accessDate: 05-04-2011] Acquired Hypogammaglobulinemias Acquired Hypogammaglobulinemias[accessedResource: MSH:D017074][accessDate: 05-04-2011] Acquired hypogammaglobulinaemia Acquired hypogammaglobulinaemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] Acquired hypogammaglobulinemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] COMMON VARIABL IMMUNODEF COMMON VARIABL IMMUNODEF[accessedResource: ICD9:279.06][accessDate: 05-04-2011] COMMON VARIABLE IMMUNODEFIC COMMON VARIABLE IMMUNODEFIC[accessedResource: MSH:D017074][accessDate: 05-04-2011] CVAG CVAG[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] CVI - Common variable immunodeficiency CVI - Common variable immunodeficiency[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] CVID CVID - Common variable immunodeficiency CVID - Common variable immunodeficiency[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] CVID[accessedResource: DOID:12177][accessDate: 05-04-2011] Common Variable Hypogammaglobulinemia Common Variable Hypogammaglobulinemia[accessedResource: MSH:D017074][accessDate: 05-04-2011] Common Variable Hypogammaglobulinemias Common Variable Hypogammaglobulinemias[accessedResource: MSH:D017074][accessDate: 05-04-2011] Common Variable Immunodeficiencies Common Variable Immunodeficiencies[accessedResource: MSH:D017074][accessDate: 05-04-2011] Common variable agammaglobulinaemia Common variable agammaglobulinaemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] Common variable agammaglobulinemia Common variable agammaglobulinemia (disorder) Common variable agammaglobulinemia (disorder)[accessedResource: DOID:12177][accessDate: 05-04-2011] Common variable agammaglobulinemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] Common variable hypogammaglobulinaemia Common variable hypogammaglobulinaemia[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] DOID:12177 Deficiencies, Late-Onset Immunoglobulin Deficiencies, Late-Onset Immunoglobulin[accessedResource: MSH:D017074][accessDate: 05-04-2011] Deficiency, Late-Onset Immunoglobulin Deficiency, Late-Onset Immunoglobulin[accessedResource: MSH:D017074][accessDate: 05-04-2011] GeneRIF:12100033 GeneRIF:12759461 GeneRIF:15507387 GeneRIF:15598813 GeneRIF:15817684 GeneRIF:16007086 GeneRIF:16007087 Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections. Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.[accessedResource: MSH:D017074][accessDate: 05-04-2011] Hypogammaglobulinemia, Acquired Hypogammaglobulinemia, Acquired[accessedResource: MSH:D017074][accessDate: 05-04-2011] Hypogammaglobulinemia, Common Variable Hypogammaglobulinemia, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011] Hypogammaglobulinemias, Acquired Hypogammaglobulinemias, Acquired[accessedResource: MSH:D017074][accessDate: 05-04-2011] Hypogammaglobulinemias, Common Variable Hypogammaglobulinemias, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011] ICD9:279.06 IMMUNODEFIC COMMON VARIABLE IMMUNODEFIC COMMON VARIABLE[accessedResource: MSH:D017074][accessDate: 05-04-2011] Immunodeficiencies, Common Variable Immunodeficiencies, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011] Immunodeficiency, Common Variable Immunodeficiency, Common Variable[accessedResource: MSH:D017074][accessDate: 05-04-2011] Immunoglobulin Deficiencies, Late-Onset Immunoglobulin Deficiencies, Late-Onset[accessedResource: MSH:D017074][accessDate: 05-04-2011] Immunoglobulin Deficiency, Late Onset Immunoglobulin Deficiency, Late Onset[accessedResource: MSH:D017074][accessDate: 05-04-2011] Immunoglobulin Deficiency, Late-Onset Immunoglobulin Deficiency, Late-Onset[accessedResource: MSH:D017074][accessDate: 05-04-2011] James Malone Late onset immunoglobulin deficiency Late onset immunoglobulin deficiency[accessedResource: SNOMEDCT:23238000][accessDate: 05-04-2011] Late-Onset Immunoglobulin Deficiencies Late-Onset Immunoglobulin Deficiencies[accessedResource: MSH:D017074][accessDate: 05-04-2011] Late-Onset Immunoglobulin Deficiency Late-Onset Immunoglobulin Deficiency[accessedResource: MSH:D017074][accessDate: 05-04-2011] MSH:D017074 NCIt:C26725 OMIM:607594 SNOMEDCT:23238000 Sporadic hypogammaglobulinemia Sporadic hypogammaglobulinemia[accessedResource: DOID:12177][accessDate: 05-04-2011] Tomasz Adamusiak Variable Hypogammaglobulinemia, Common Variable Hypogammaglobulinemia, Common[accessedResource: MSH:D017074][accessDate: 05-04-2011] Variable Hypogammaglobulinemias, Common Variable Hypogammaglobulinemias, Common[accessedResource: MSH:D017074][accessDate: 05-04-2011] acquired Agammaglobulinemia acquired hypogammaglobulinemia true true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_3469' instead. New Label : Common variable immunodeficiency minor histocompatibility congenic strain A congenic strain in which the donor allele transferred to the host strain background is a minor histocompatibility gene. Helen Parkinson MIH compound based treatment A treatment process in which a chemical compound is administered to the subject under investigation. James Malone Jie Zheng MO_798 Tomasz Adamusiak compound_based_treatment compound_based_treatment[accessedResource: MO_798][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#compound_based_treatment chemically induced mutation A genetic modification introduced by treatment of an individual by chemical mutagenesis, e.g. by use of ENU CI Helen Parkinson http://www.findmice.org/glossary.jsp obsolete_congenital bilateral absence of the vas deferens Congenital bilateral absence of the vas deferens (CAVD) is a condition in which the two vas deferens, male reproductive organs, fail to form properly prior to birth. James Malone Wikipedia: http://en.wikipedia.org/wiki/Congenital_absence_of_the_vas_deferens true 2.32.2 duplicate class with Congenital bilateral absence of vas deferens obsolete_congestive cardiomyopathy 1.7 A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein. DOID:12930 Helen Parkinson James Malone MSH:D002311 SNOMEDCT:195021004 SNOMEDCT:399020009 Same as dilated cardiomyopathy EFO_0000407 Tomasz Adamusiak true congestive heart failure 1. inadequacy of the heart so that as a pump it fails to maintain the circulation of blood, with the result that congestion and edema develop in the tissues; SEE ALSO forward heart failure, backward heart failure, right ventricular failure, left ventricular failure. SYN cardiac failure, cardiac insufficiency, congestive heart failure, myocardial insufficiency. 2. resulting clinical syndromes including shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales in various combinations. A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION. A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.[accessedResource: MSH:D006333][accessDate: 05-04-2011] CCF - Congestive cardiac failure CCF - Congestive cardiac failure[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011] CHF CHF - Congestive heart failure CHF - Congestive heart failure[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011] CHF NOS CHF NOS[accessedResource: ICD9:428.0][accessDate: 05-04-2011] CHF[accessedResource: DOID:395][accessDate: 05-04-2011] Cardiac Failure Cardiac Failure Congestive Cardiac Failure Congestive[accessedResource: DOID:395][accessDate: 05-04-2011] Cardiac Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011] Congestive cardiac failure Congestive cardiac failure[accessedResource: DOID:395][accessDate: 05-04-2011] Congestive heart disease Congestive heart disease[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011] Congestive heart failure (disorder) Congestive heart failure (disorder)[accessedResource: SNOMEDCT:42343007][accessDate: 05-04-2011] Congestive heart failure, unspecified Congestive heart failure, unspecified[accessedResource: ICD9:428.0][accessDate: 05-04-2011] Congetive cardiac failure Congetive cardiac failure[accessedResource: DOID:395][accessDate: 05-04-2011] DOID:395 Decompensation, Heart Decompensation, Heart[accessedResource: MSH:D006333][accessDate: 05-04-2011] FAILURE, CONGESTIVE HEART FAILURE, CONGESTIVE HEART[accessedResource: NCIt:C3080][accessDate: 05-04-2011] Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales. Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.[accessedResource: NCIt:C3080][accessDate: 05-04-2011] GeneRIF:11972292 GeneRIF:12133421 GeneRIF:12133434 GeneRIF:12135128 GeneRIF:12234945 GeneRIF:12364464 GeneRIF:12376296 GeneRIF:12388270 GeneRIF:12392981 GeneRIF:12468107 GeneRIF:12610310 GeneRIF:12791592 GeneRIF:12835956 GeneRIF:12948841 GeneRIF:12967639 GeneRIF:14575298 GeneRIF:14685701 GeneRIF:14729387 GeneRIF:15007012 GeneRIF:15319210 GeneRIF:15321927 GeneRIF:15458431 GeneRIF:15475532 GeneRIF:15601581 GeneRIF:15704067 GeneRIF:15802562 GeneRIF:15861037 HEART FAILURE, CONGESTIVE[accessedResource: NCIt:C3080][accessDate: 05-04-2011] Heart Decompensation Heart Decompensation[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart Failure, Congestive Heart Failure, Left Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart Failure, Left-Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart Failure, Right Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart Failure, Right-Sided[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs. Heart failure accompanied by EDEMA, such as swelling of the legs and ankles and congestion in the lungs.[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation). Heart failure caused by dysfunction of the MYOCARDIUM, leading to defective cardiac emptying (contraction) or filling (relaxation).[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart failure involving the LEFT VENTRICLE. Heart failure involving the LEFT VENTRICLE.[accessedResource: MSH:D006333][accessDate: 05-04-2011] Heart failure involving the RIGHT VENTRICLE. Heart failure involving the RIGHT VENTRICLE.[accessedResource: MSH:D006333][accessDate: 05-04-2011] ICD9:428.0 James Malone Left Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011] Left-Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011] MSH:D006333 Myocardial Failure Myocardial Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011] NCIt:C3080 Right Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011] Right-Sided Heart Failure[accessedResource: MSH:D006333][accessDate: 05-04-2011] SNOMEDCT:42343007 Tomasz Adamusiak obsolete_conjunctiva structure A thin, transparent tissue divided into the palpebral conjunctiva (covering the inner side of the eye lid) and the bulbar conjunctiva (covering the eyeball). A thin, transparent tissue divided into the palpebral conjunctiva (covering the inner side of the eye lid) and the bulbar conjunctiva (covering the eyeball).[accessedResource: NCIt:C12341][accessDate: 05-04-2011] Conjunctiva Conjunctiva[accessedResource: NCIt:C12341][accessDate: 05-04-2011] James Malone NCIt:C12341 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001811 label: conjunctiva true control spike calibration A process in which a reporter that could be hybridized to an exogenously added nucleic acid or protein (spike) before or during hybridization is used as a control for data processing. James Malone MO_364 control_spike_calibration control_spike_calibration[accessedResource: MO_364][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#control_spike_calibration obsolete_conventional clear cell renal carcinoma 1.8 A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney. Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney. DOID:4467 GeneRIF:12576453 GeneRIF:14550470 GeneRIF:15062033 GeneRIF:15709172 James Malone MSH:D002292 NCIt:C4033 SNOMEDCT:254915003 duplicate of clear cell adenocarcinoma EFO_0000348 true obsolete_cornea structure A dome-shaped, transparent, avascular tissue covering the front of the eye. It is composed of five layers: squamous epithelium, Bowman's membrane, stroma, Descemet's membrane, and endothelium. Refraction of light contributing to eye's focusing ability is its characteristic function. It contains unmyelinated nerve endings which are responsible for the high sensitivity of the tissue. A dome-shaped, transparent, avascular tissue covering the front of the eye. It is composed of five layers: squamous epithelium, Bowman's membrane, stroma, Descemet's membrane, and endothelium. Refraction of light contributing to eye's focusing ability is its characteristic function. It contains unmyelinated nerve endings which are responsible for the high sensitivity of the tissue.[accessedResource: NCIt:C12342][accessDate: 05-04-2011] BTO:0000286 Cornea James Malone NCIt:C12342 The transparent part of the coat of the eyeball that covers the iris and pupil and admits light to the interior. The transparent part of the coat of the eyeball that covers the iris and pupil and admits light to the interior.[accessedResource: BTO:0000286][accessDate: 05-04-2011] cornea[accessedResource: BTO:0000286][accessDate: 05-04-2011] corneal structure Use http://purl.obolibrary.org/obo/UBERON_0000964 label: cornea MSH:D003315 true 2.38 true coronary artery disease An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.[accessedResource: MSH:D003327][accessDate: 05-04-2011] Arterioscleroses, Coronary Arterioscleroses, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011] Arteriosclerosis, Coronary Arteriosclerosis, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011] Artery Disease, Coronary Artery Disease, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011] Artery Diseases, Coronary Artery Diseases, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011] Atheroscleroses, Coronary Atheroscleroses, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011] Atherosclerosis, Coronary Atherosclerosis, Coronary[accessedResource: MSH:D003324][accessDate: 05-04-2011] CAD CAD[accessedResource: NCIt:C26732][accessDate: 05-04-2011] CORONARY ARTERY DIS CORONARY ARTERY DIS[accessedResource: MSH:D003324][accessDate: 05-04-2011] CORONARY DIS CORONARY DIS[accessedResource: MSH:D003327][accessDate: 05-04-2011] CORONARY HEART DIS[accessedResource: MSH:D003327][accessDate: 05-04-2011] Coronary Arterioscleroses Coronary Arterioscleroses[accessedResource: MSH:D003324][accessDate: 05-04-2011] Coronary Arteriosclerosis Coronary Arteriosclerosis[accessedResource: MSH:D003324][accessDate: 05-04-2011] Coronary Artery Diseases Coronary Artery Diseases[accessedResource: MSH:D003324][accessDate: 05-04-2011] Coronary Atheroscleroses Coronary Atheroscleroses[accessedResource: MSH:D003324][accessDate: 05-04-2011] Coronary Atherosclerosis Coronary Atherosclerosis[accessedResource: MSH:D003324][accessDate: 05-04-2011] Coronary Disease Coronary Disease[accessedResource: NCIt:C26732][accessDate: 05-04-2011] Coronary Diseases Coronary Diseases[accessedResource: MSH:D003327][accessDate: 05-04-2011] Coronary Heart Disease[accessedResource: MSH:D003327][accessDate: 05-04-2011] Coronary Heart Diseases[accessedResource: MSH:D003327][accessDate: 05-04-2011] Disease, Coronary Disease, Coronary Artery Disease, Coronary Artery[accessedResource: MSH:D003324][accessDate: 05-04-2011] Disease, Coronary Heart Disease, Coronary Heart[accessedResource: MSH:D003327][accessDate: 05-04-2011] Disease, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] Diseases, Coronary Diseases, Coronary Artery Diseases, Coronary Artery[accessedResource: MSH:D003324][accessDate: 05-04-2011] Diseases, Coronary Heart Diseases, Coronary Heart[accessedResource: MSH:D003327][accessDate: 05-04-2011] Diseases, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] Heart Disease, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] Heart Diseases, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] MSH:D003324 MSH:D003327 NCIt:C26732 Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.[accessedResource: NCIt:C26732][accessDate: 05-04-2011] Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause. Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.[accessedResource: MSH:D003324][accessDate: 05-04-2011] Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE). Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).[accessedResource: MSH:D003324][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_corpus allatum A neurosecretory organ forming part of the retrocerebral complex. A neurosecretory organ forming part of the retrocerebral complex.[accessedResource: FBbt:00005800][accessDate: 05-04-2011] BTO:0000291 FBbt:00001716 FBbt:00005800 James Malone MAT:0000210 One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone). One of a pair of separate or fused bodies in many insects that are sometimes closely associated with the corpora cardiaca and that secrete hormones (as juvenile hormone).[accessedResource: BTO:0000291][accessDate: 05-04-2011] The primordium that will form the embryonic/larval corpus allatum, a substructure of the embryonic/larval ring gland. It is a paired structure that becomes distinct in early dorsal closure between the head mesoderm and the epidermis of the gnathal segments. During dorsal closure the paired primordia move dorsally to meet and fuse above the cardioblasts of the developing aorta. The primordium that will form the embryonic/larval corpus allatum, a substructure of the embryonic/larval ring gland. It is a paired structure that becomes distinct in early dorsal closure between the head mesoderm and the epidermis of the gnathal segments. During dorsal closure the paired primordia move dorsally to meet and fuse above the cardioblasts of the developing aorta. The primordium that will form the embryonic/larval corpus allatum, a substructure of the embryonic/larval ring gland. It is a paired structure that becomes distinct in early dorsal closure between the head mesoderm and the epidermis of the gnathal segments. During dorsal closure the paired primordia move dorsally to meet and fuse above the cardioblasts of the developing aorta.[accessedResource: FBbt:00001716][accessDate: 05-04-2011] corpora allata corpus allatum primordium corpus allatum primordium[accessedResource: FBbt:00001716][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001057 label: corpus allatum obsolete_corpus cardiacum A pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain. A pair of neurohemal organs located on the walls of the aorta just behind the brain. The corpora cardiaca release their store of PTTH only after they receive a signal from neurosecretory cells in the brain.[accessedResource: BTO:0000432][accessDate: 05-04-2011] BTO:0000432 FBbt:00005799 James Malone corpora cardiaca 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001056 label: corpus cardiacum true obsolete_corpus striatum BTO:0001311 Either of a pair of masses of nervous tissue within the brain that contain two large nuclei of gray matter separated by sheets of white matter. Either of a pair of masses of nervous tissue within the brain that contain two large nuclei of gray matter separated by sheets of white matter.[accessedResource: BTO:0001311][accessDate: 05-04-2011] James Malone NCIt:C12448 NIFSTD:birnlex_1672 NIFSTD:nlx_anat_20090201 Neostriatum Neostriatum[accessedResource: NIFSTD:birnlex_1672][accessDate: 05-04-2011] Striate Body[accessedResource: NCIt:C12448][accessDate: 05-04-2011] Striatum[accessedResource: NCIt:C12448][accessDate: 05-04-2011] Striped gray and white matter consisting of the neostriatum and paleostriatum (globus pallidus). It is located in front of and lateral to the thalamus in each cerebral hemisphere. The gray substance is made up of the caudate nucleus and the lentiform nucleus. The white matter is the internal capsule. (MeSH) Striped gray and white matter consisting of the neostriatum and paleostriatum (globus pallidus). It is located in front of and lateral to the thalamus in each cerebral hemisphere. The gray substance is made up of the caudate nucleus and the lentiform nucleus. The white matter is the internal capsule. (MeSH)[accessedResource: NCIt:C12448][accessDate: 05-04-2011] Tomasz Adamusiak caudate putamen[accessedResource: NIFSTD:birnlex_1672][accessDate: 05-04-2011] dorsal striatum dorsal striatum[accessedResource: NIFSTD:birnlex_1672][accessDate: 05-04-2011] striate body striated body striatum 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000369 label: corpus striatum corpus uteri Corpus Corpus[accessedResource: NCIt:C12316][accessDate: 05-04-2011] James Malone NCIt:C12316 The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ. The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ.[accessedResource: NCIt:C12316][accessDate: 05-04-2011] Uterine Body Uterine Body[accessedResource: NCIt:C12316][accessDate: 05-04-2011] Uterus, corpus Uterus, corpus[accessedResource: NCIt:C12316][accessDate: 05-04-2011] obsolete_cortex 1.8 BTO:0000233 James Malone NCIt:C12443 NIFSTD:birnlex_1494 The surface layer of gray matter of the cerebrum that functions chiefly in coordination of sensory and motor information. Tomasz Adamusiak cortex is ambiguous as class under brain so removed true Crohn's disease A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients. A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.[accessedResource: MSH:D003424][accessDate: 05-04-2011] CROHN DIS CROHN DIS[accessedResource: MSH:D003424][accessDate: 05-04-2011] CROHNS DIS CROHNS DIS[accessedResource: MSH:D003424][accessDate: 05-04-2011] Colitis, Granulomatous Colitis, Granulomatous[accessedResource: MSH:D003424][accessDate: 05-04-2011] Crohn Disease Crohn Disease[accessedResource: MSH:D003424][accessDate: 05-04-2011] Crohn's associated gastritis Crohn's associated gastritis[accessedResource: DOID:4039][accessDate: 05-04-2011] Crohns Disease Crohns Disease[accessedResource: MSH:D003424][accessDate: 05-04-2011] DOID:4039 Enteritis, Granulomatous Enteritis, Granulomatous[accessedResource: MSH:D003424][accessDate: 05-04-2011] Enteritis, Regional Enteritis, Regional[accessedResource: MSH:D003424][accessDate: 05-04-2011] Gastritis Associated with Crohn Disease Gastritis Associated with Crohn Disease[accessedResource: NCIt:C27837][accessDate: 05-04-2011] Gastritis Associated with Crohn's Disease Gastritis Associated with Crohn's Disease[accessedResource: NCIt:C27837][accessDate: 05-04-2011] Ileitis, Regional Ileitis, Regional[accessedResource: MSH:D003424][accessDate: 05-04-2011] Ileitis, Terminal Ileitis, Terminal[accessedResource: MSH:D003424][accessDate: 05-04-2011] Ileocolitis Ileocolitis[accessedResource: MSH:D003424][accessDate: 05-04-2011] James Malone MSH:D003424 NCIt:C27837 OMIM:266600 Tomasz Adamusiak true crystal cell specific anlage FBbt:00005463 James Malone obsolete_cultivar 2.4 A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species. James Malone Jie Zheng MO_124 Tomasz Adamusiak true using strain to hang cultivar subclasses in future electrical current Formerly class "current milliamperes" James Malone The measure of movement of electrical charges in a conductor measured in milliamperes. cutaneous melanoma A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma. A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Cutaneous malignant melanoma Cutaneous malignant melanoma[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011] DOID:8923 GeneRIF:11841484 GeneRIF:12011132 GeneRIF:12067203 GeneRIF:12376526 GeneRIF:12459644 GeneRIF:12778069 GeneRIF:14714570 GeneRIF:15057044 GeneRIF:15743033 GeneRIF:15751018 ICD9:172 ICD9:172.3 ICD9:172.8 ICD9:172.9 James Malone MAL MELANOM FACE NEC/NOS MAL MELANOM FACE NEC/NOS[accessedResource: ICD9:172.3][accessDate: 05-04-2011] MALIG MELANOMA SKIN NEC MALIG MELANOMA SKIN NEC[accessedResource: ICD9:172.8][accessDate: 05-04-2011] MALIG MELANOMA SKIN NOS MALIG MELANOMA SKIN NOS[accessedResource: ICD9:172.9][accessDate: 05-04-2011] MM - Malignant melanoma of skin MM - Malignant melanoma of skin[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011] Malignant Cutaneous Melanoma Malignant Cutaneous Melanoma[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Malignant Melanoma (of Skin), Stage Unspecified Malignant Melanoma (of Skin), Stage Unspecified[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Malignant Melanoma of Skin Malignant Melanoma of Skin Stage Unspecified Malignant Melanoma of Skin Stage Unspecified[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Malignant Melanoma of Skin[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Malignant melanoma of other specified sites of skin Malignant melanoma of other specified sites of skin[accessedResource: ICD9:172.8][accessDate: 05-04-2011] Malignant melanoma of other specified skin site Malignant melanoma of other specified skin site (disorder) Malignant melanoma of other specified skin site (disorder)[accessedResource: SNOMEDCT:188080004][accessDate: 05-04-2011] Malignant melanoma of other specified skin site[accessedResource: SNOMEDCT:188080004][accessDate: 05-04-2011] Malignant melanoma of skin (disorder) Malignant melanoma of skin (disorder)[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011] Malignant melanoma of skin NOS Malignant melanoma of skin NOS (disorder) Malignant melanoma of skin NOS (disorder)[accessedResource: SNOMEDCT:188082007][accessDate: 05-04-2011] Malignant melanoma of skin NOS[accessedResource: SNOMEDCT:188082007][accessDate: 05-04-2011] Malignant melanoma of skin of other and unspecified parts of face Malignant melanoma of skin of other and unspecified parts of face[accessedResource: ICD9:172.3][accessDate: 05-04-2011] Malignant melanoma of skin, NOS Malignant melanoma of skin, NOS[accessedResource: SNOMEDCT:93655004][accessDate: 05-04-2011] Melanoma of Skin Melanoma of Skin[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Melanoma of skin, site unspecified Melanoma of skin, site unspecified[accessedResource: ICD9:172.9][accessDate: 05-04-2011] Melanoma of the Skin Melanoma of the Skin[accessedResource: NCIt:C3510][accessDate: 05-04-2011] NCIt:C3510 OMIM:155600 SNOMEDCT:188080004 SNOMEDCT:188082007 SNOMEDCT:190105009 SNOMEDCT:93655004 Skin Melanoma Skin Melanoma[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Skin, Melanoma Skin, Melanoma[accessedResource: NCIt:C3510][accessDate: 05-04-2011] Tomasz Adamusiak [X]Malignant melanoma of skin, unspecified [X]Malignant melanoma of skin, unspecified (disorder) [X]Malignant melanoma of skin, unspecified (disorder)[accessedResource: SNOMEDCT:190105009][accessDate: 05-04-2011] [X]Malignant melanoma of skin, unspecified[accessedResource: SNOMEDCT:190105009][accessDate: 05-04-2011] cancer of skin obsolete_cystic fibrosis A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003 A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.[accessedResource: NCIt:C2975][accessDate: 05-04-2011] CF CF - Cystic fibrosis CF - Cystic fibrosis[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011] CF[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011] CYSTIC FIBROS W/O ILEUS CYSTIC FIBROS W/O ILEUS[accessedResource: ICD9:277.00][accessDate: 05-04-2011] Cystic fibrosis (disorder) Cystic fibrosis (disorder)[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011] Cystic fibrosis NOS Cystic fibrosis NOS (disorder) Cystic fibrosis NOS (disorder)[accessedResource: SNOMEDCT:190911006][accessDate: 05-04-2011] Cystic fibrosis NOS[accessedResource: SNOMEDCT:190911006][accessDate: 05-04-2011] Cystic fibrosis without mention of meconium ileus Cystic fibrosis without mention of meconium ileus[accessedResource: ICD9:277.00][accessDate: 05-04-2011] DOID:1485 Fibrocystic disease Fibrocystic disease[accessedResource: SNOMEDCT:190905008][accessDate: 05-04-2011] GeneRIF:11667971 GeneRIF:11809765 GeneRIF:11823525 GeneRIF:11845300 GeneRIF:11872746 GeneRIF:11877474 GeneRIF:11956211 GeneRIF:11984593 GeneRIF:11988083 GeneRIF:12000722 GeneRIF:12026214 GeneRIF:12070134 GeneRIF:12142723 GeneRIF:12142724 GeneRIF:12151438 GeneRIF:12220181 GeneRIF:12297838 GeneRIF:12370389 GeneRIF:12547728 GeneRIF:12579467 GeneRIF:12660625 GeneRIF:12692180 GeneRIF:12732620 GeneRIF:12820707 GeneRIF:12847263 GeneRIF:12919146 GeneRIF:12948935 GeneRIF:14685937 GeneRIF:14695120 GeneRIF:14699484 GeneRIF:15007059 GeneRIF:15024729 GeneRIF:15025720 GeneRIF:15025858 GeneRIF:15070876 GeneRIF:15107292 GeneRIF:15184199 GeneRIF:15246975 GeneRIF:15274124 GeneRIF:15336594 GeneRIF:15367919 GeneRIF:15385508 GeneRIF:15463893 GeneRIF:15463895 GeneRIF:15463896 GeneRIF:15489228 GeneRIF:15490240 GeneRIF:15533353 GeneRIF:15537723 GeneRIF:15579374 GeneRIF:15611333 GeneRIF:15638824 GeneRIF:15684701 GeneRIF:15738290 GeneRIF:15781764 GeneRIF:15964250 GeneRIF:15964894 GeneRIF:16137181 GeneRIF:16207846 GeneRIF:16236890 GeneRIF:16267280 GeneRIF:16281647 ICD9:277.0 ICD9:277.00 James Malone Meconium ileus in cystic fibrosis (disorder) Meconium obstruction of intestine in mucoviscidosis NCIt:C2975 OMIM:219700 SNOMEDCT:190905008 SNOMEDCT:190911006 Tomasz Adamusiak cystic fibrosis with combined manifestations cystic fibrosis with gastrointestinal manifestations cystic fibrosis with meconium ileus cystic fibrosis with meconium ileus (disorder) cystic fibrosis with other manifestations cystic fibrosis with other manifestations (disorder) cystic fibrosis with pulmonary manifestations cystic fibrosis with pulmonary manifestations (disorder) mucoviscidosis mucoviscidosis[accessedResource: DOID:1485][accessDate: 05-04-2011] true true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_49' instead. New Label : Cystic fibrosis MSH:D003550 damage intensity A measurement of physical damage, e.g. by a caterpillar on a plant leaf James Malone by a caterpillar on a plant leaf obsolete_damage response Dani Welter James Malone Physiological response to e.g. leaf's response to physical damage by a caterpillar on a plant leaf leaf's response to physical damage by a caterpillar on a plant leaf replaced by response to wounding, imported from GO true Robertsonian translocation dedifferentiated chondrosarcoma An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor. An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.[accessedResource: NCIt:C6476][accessDate: 05-04-2011] DOID:5864 Dedifferentiated chondrosarcoma (morphologic abnormality) Dedifferentiated chondrosarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:128776008][accessDate: 05-04-2011] James Malone NCIt:C6476 SNOMEDCT:128776008 delivery method A description of the method used to deliver e.g. a compound or solution for treatment. DeliveryMethod DeliveryMethod[accessedResource: MO_223][accessDate: 05-04-2011] Jie Zheng MO_223 Tomasz Adamusiak a compound or solution for treatment. dermal neurofibroma A dermal neurofibroma is a neurofibroma that occurs in situ of the skin. James Malone dermatomyositis A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction. A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.[accessedResource: DOID:10223][accessDate: 05-04-2011] A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)[accessedResource: MSH:D003882][accessDate: 05-04-2011] Adult Type Dermatomyositides Adult Type Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Adult Type Dermatomyositis Adult Type Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] Childhood Type Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Childhood Type Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] DM - Dermatomyositis DM - Dermatomyositis[accessedResource: SNOMEDCT:396230008][accessDate: 05-04-2011] DOID:10223 Dermatomyositides Dermatomyositides, Adult Type Dermatomyositides, Adult Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositides, Childhood Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositis (disorder) Dermatomyositis (disorder)[accessedResource: SNOMEDCT:396230008][accessDate: 05-04-2011] Dermatomyositis, Adult Type Dermatomyositis, Adult Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositis, Childhood Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatopolymyositides Dermatopolymyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatopolymyositis, unspecified Dermatopolymyositis, unspecified (disorder) Dermatopolymyositis, unspecified[accessedResource: DOID:10223][accessDate: 05-04-2011] Dermatopolymyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] GeneRIF:12147628 GeneRIF:14631123 GeneRIF:15146429 GeneRIF:15752564 GeneRIF:16047841 GeneRIF:16097959 ICD9:710.3 James Malone MSH:D003882 NCIt:C26744 Polymyositis Dermatomyositis Polymyositis Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] Polymyositis with skin involvement Polymyositis with skin involvement[accessedResource: DOID:10223][accessDate: 05-04-2011] Polymyositis-Dermatomyositides Polymyositis-Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Polymyositis-Dermatomyositis Polymyositis-Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] SNOMEDCT:203795006 SNOMEDCT:396230008 Wagner-Unverricht syndrome Wagner-Unverricht syndrome[accessedResource: SNOMEDCT:396230008][accessDate: 05-04-2011] [X]Dermatopolymyositis, unspecified [X]Dermatopolymyositis, unspecified (disorder) [X]Dermatopolymyositis, unspecified (disorder)[accessedResource: SNOMEDCT:203795006][accessDate: 05-04-2011] [X]Dermatopolymyositis, unspecified[accessedResource: SNOMEDCT:203795006][accessDate: 05-04-2011] dermatopolymyositis developmental stage A developmental stage is spatiotemporal region encompassing some part of the life cycle of an organism, e.g. blastula stage James Malone Jie Zheng MO_878 Tomasz Adamusiak developmental_stage developmental_stage[accessedResource: MO_878][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#developmental_stage true life cycle stage This branch will be replaced by, and if necessary merged with an Uberon import in future. diabetes mellitus A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE. A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.[accessedResource: MSH:D003920][accessDate: 05-04-2011] A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization. A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.[accessedResource: NCIt:C2985][accessDate: 05-04-2011] DM - Diabetes mellitus DM - Diabetes mellitus[accessedResource: SNOMEDCT:73211009][accessDate: 05-04-2011] DOID:9351 Diabetes Diabetes NOS Diabetes NOS[accessedResource: DOID:9351][accessDate: 05-04-2011] Diabetes mellitus (disorder) Diabetes mellitus (disorder)[accessedResource: DOID:9351][accessDate: 05-04-2011] Diabetes mellitus, NOS Diabetes mellitus, NOS[accessedResource: SNOMEDCT:73211009][accessDate: 05-04-2011] Diabetes[accessedResource: DOID:9351][accessDate: 05-04-2011] GeneRIF:11668623 GeneRIF:11774208 GeneRIF:11796176 GeneRIF:11822825 GeneRIF:11875060 GeneRIF:11882518 GeneRIF:11888844 GeneRIF:11896938 GeneRIF:11912494 GeneRIF:11916624 GeneRIF:11916625 GeneRIF:11938023 GeneRIF:11947965 GeneRIF:11980626 GeneRIF:12012276 GeneRIF:12021129 GeneRIF:12021133 GeneRIF:12027924 GeneRIF:12039697 GeneRIF:12062816 GeneRIF:12062854 GeneRIF:12095538 GeneRIF:12118252 GeneRIF:12148086 GeneRIF:12200076 GeneRIF:12207164 GeneRIF:12221327 GeneRIF:12230824 GeneRIF:12490143 GeneRIF:12500218 GeneRIF:12529387 GeneRIF:12536206 GeneRIF:12574207 GeneRIF:12584444 GeneRIF:12589429 GeneRIF:12618277 GeneRIF:12639765 GeneRIF:12649573 GeneRIF:12673582 GeneRIF:12679462 GeneRIF:12679473 GeneRIF:12706323 GeneRIF:12719374 GeneRIF:12738397 GeneRIF:12738401 GeneRIF:12748907 GeneRIF:12753312 GeneRIF:12765847 GeneRIF:12783844 GeneRIF:12787913 GeneRIF:12898475 GeneRIF:12920574 GeneRIF:12955714 GeneRIF:14631138 GeneRIF:14641003 GeneRIF:14654370 GeneRIF:14658759 GeneRIF:14674716 GeneRIF:14675060 GeneRIF:14714273 GeneRIF:14716305 GeneRIF:14726620 GeneRIF:14764811 GeneRIF:14766207 GeneRIF:14998943 GeneRIF:15046742 GeneRIF:15070960 GeneRIF:15112906 GeneRIF:15123681 GeneRIF:15126243 GeneRIF:15128745 GeneRIF:15156314 GeneRIF:15156315 GeneRIF:15166380 GeneRIF:15173029 GeneRIF:15221640 GeneRIF:15237707 GeneRIF:15251864 GeneRIF:15258348 GeneRIF:15281346 GeneRIF:15286433 GeneRIF:15355441 GeneRIF:15367890 GeneRIF:15476949 GeneRIF:15516784 GeneRIF:15538935 GeneRIF:15554360 GeneRIF:15557196 GeneRIF:15563983 GeneRIF:15609025 GeneRIF:15625086 GeneRIF:15639198 GeneRIF:15646011 GeneRIF:15662218 GeneRIF:15699497 GeneRIF:15699509 GeneRIF:15699510 GeneRIF:15699511 GeneRIF:15699512 GeneRIF:15699513 GeneRIF:15790730 GeneRIF:15797963 GeneRIF:15800961 GeneRIF:15831366 GeneRIF:15887858 GeneRIF:15940393 GeneRIF:15959417 GeneRIF:16002993 GeneRIF:16087164 GeneRIF:16098926 GeneRIF:16260427 ICD9:250 James Malone MSH:D003920 NCIt:C2985 SNOMEDCT:73211009 true diabetic nephropathy Amyotrophies, Diabetic Amyotrophies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Amyotrophy, Diabetic Amyotrophy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Asymmetric Diabetic Proximal Motor Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Asymmetric Polyneuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Asymmetric Polyneuropathy, Diabetic Asymmetric Polyneuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Autonomic Neuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Autonomic Neuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] DMII RENAL UNCNTRLD DMII RENAL UNCNTRLD[accessedResource: ICD9:250.42][accessDate: 05-04-2011] DMII RENL NT ST UNCNTRLD DMII RENL NT ST UNCNTRLD[accessedResource: ICD9:250.40][accessDate: 05-04-2011] DOID:2370 Diabetes mellitus type II [non-insulin dependent type] [NIDDM type] [adult-onset type] or unspecified type, not stated as uncontrolled, with renal manifestations[accessedResource: ICD9:250.40][accessDate: 05-04-2011] Diabetes mellitus type II [non-insulin dependent type] [NIDDM type] [adult-onset type] or unspecified type, uncontrolled, with renal manifestations[accessedResource: ICD9:250.42][accessDate: 05-04-2011] Diabetes with renal manifestations Diabetes with renal manifestations (disorder) Diabetes with renal manifestations (disorder)[accessedResource: SNOMEDCT:21858001][accessDate: 05-04-2011] Diabetes with renal manifestations[accessedResource: ICD9:250.4][accessDate: 05-04-2011] Diabetes-nephrosis syndrome Diabetes-nephrosis syndrome (disorder) Diabetes-nephrosis syndrome (disorder)[accessedResource: SNOMEDCT:54181000][accessDate: 05-04-2011] Diabetes-nephrosis syndrome[accessedResource: SNOMEDCT:54181000][accessDate: 05-04-2011] Diabetic Amyotrophies Diabetic Amyotrophies[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Amyotrophy Diabetic Amyotrophy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Asymmetric Polyneuropathies Diabetic Asymmetric Polyneuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Asymmetric Polyneuropathy Diabetic Asymmetric Polyneuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Autonomic Neuropathies Diabetic Autonomic Neuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Autonomic Neuropathy Diabetic Autonomic Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Glomerulosclerosis Diabetic Glomerulosclerosis[accessedResource: MSH:D003928][accessDate: 05-04-2011] Diabetic Kidney Disease Diabetic Kidney Disease[accessedResource: MSH:D003928][accessDate: 05-04-2011] Diabetic Kidney Diseases Diabetic Kidney Diseases[accessedResource: MSH:D003928][accessDate: 05-04-2011] Diabetic Mononeuropathies Diabetic Mononeuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Mononeuropathy Diabetic Mononeuropathy Simplex Diabetic Mononeuropathy Simplex[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Mononeuropathy Simplices Diabetic Mononeuropathy Simplices[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Mononeuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Nephropathies Diabetic Nephropathies[accessedResource: MSH:D003928][accessDate: 05-04-2011] Diabetic Neuralgia Diabetic Neuralgia[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Neuralgias Diabetic Neuralgias[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Neuropathies, Painful[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Neuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Neuropathy, Painful[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Polyneuropathies Diabetic Polyneuropathies[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic Polyneuropathy Diabetic Polyneuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Diabetic nephropathy (sometimes called Kimmelstiel-Wilson syndrome) is a peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325) Diabetic renal disease Diabetic renal disease (disorder) Diabetic renal disease (disorder)[accessedResource: SNOMEDCT:127013003][accessDate: 05-04-2011] Diabetic renal disease[accessedResource: SNOMEDCT:127013003][accessDate: 05-04-2011] GeneRIF:11770799 GeneRIF:11845237 GeneRIF:11940319 GeneRIF:12032186 GeneRIF:12086959 GeneRIF:12105259 GeneRIF:12147786 GeneRIF:12147787 GeneRIF:12171997 GeneRIF:12187087 GeneRIF:12200076 GeneRIF:12413777 GeneRIF:12436341 GeneRIF:12446618 GeneRIF:12500218 GeneRIF:12505748 GeneRIF:12540629 GeneRIF:12606536 GeneRIF:12610055 GeneRIF:12630823 GeneRIF:12631336 GeneRIF:12644472 GeneRIF:12675860 GeneRIF:12722028 GeneRIF:12757981 GeneRIF:12784186 GeneRIF:12874455 GeneRIF:12882872 GeneRIF:12897091 GeneRIF:12911551 GeneRIF:12938144 GeneRIF:12941731 GeneRIF:14514642 GeneRIF:14514644 GeneRIF:14521940 GeneRIF:14531794 GeneRIF:14578305 GeneRIF:14583183 GeneRIF:14586741 GeneRIF:14610338 GeneRIF:14633859 GeneRIF:14633865 GeneRIF:14674716 GeneRIF:14694017 GeneRIF:14694018 GeneRIF:14736962 GeneRIF:14747204 GeneRIF:14747236 GeneRIF:14748439 GeneRIF:15016802 GeneRIF:15047636 GeneRIF:15052533 GeneRIF:15120704 GeneRIF:15126006 GeneRIF:15153757 GeneRIF:15223229 GeneRIF:15232685 GeneRIF:15286433 GeneRIF:15308130 GeneRIF:15322501 GeneRIF:15327405 GeneRIF:15345671 GeneRIF:15489960 GeneRIF:15496156 GeneRIF:15502921 GeneRIF:15539010 GeneRIF:15562008 GeneRIF:15600254 GeneRIF:15610240 GeneRIF:15616035 GeneRIF:15616804 GeneRIF:15745834 GeneRIF:15780082 GeneRIF:15790669 GeneRIF:15793258 GeneRIF:15830182 GeneRIF:15888973 GeneRIF:15915338 GeneRIF:15942051 GeneRIF:15946912 GeneRIF:15957132 GeneRIF:15983219 GeneRIF:15983323 GeneRIF:15983325 GeneRIF:16014032 GeneRIF:16091581 GeneRIF:16164625 GeneRIF:16164635 GeneRIF:16211375 GeneRIF:16249462 GeneRIF:16249547 GeneRIF:16301823 Glomerulosclerosis, Diabetic Glomerulosclerosis, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011] Glomerulosclerosis, Nodular Glomerulosclerosis, Nodular[accessedResource: MSH:D003928][accessDate: 05-04-2011] ICD9:250.4 ICD9:250.40 ICD9:250.42 Intracapillary Glomerulosclerosis Intracapillary Glomerulosclerosis[accessedResource: MSH:D003928][accessDate: 05-04-2011] James Malone Kidney Disease, Diabetic Kidney Disease, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011] Kidney Diseases, Diabetic Kidney Diseases, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011] Kimmelstiel - Wilson disease Kimmelstiel - Wilson disease[accessedResource: SNOMEDCT:197605007][accessDate: 05-04-2011] Kimmelstiel Wilson Disease Kimmelstiel Wilson Disease[accessedResource: MSH:D003928][accessDate: 05-04-2011] Kimmelstiel Wilson Syndrome Kimmelstiel Wilson Syndrome[accessedResource: MSH:D003928][accessDate: 05-04-2011] Kimmelstiel-Wilson Disease Kimmelstiel-Wilson Disease[accessedResource: MSH:D003928][accessDate: 05-04-2011] Kimmelstiel-Wilson Syndrome Kimmelstiel-Wilson Syndrome[accessedResource: MSH:D003928][accessDate: 05-04-2011] MSH:D003928 MSH:D003929 Mononeuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Mononeuropathy Simplex, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Mononeuropathy Simplices, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Mononeuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Nephropathies, Diabetic Nephropathies, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011] Nephropathy, Diabetic Nephropathy, Diabetic[accessedResource: MSH:D003928][accessDate: 05-04-2011] Nephrotic syndrome in diabetes mellitus Nephrotic syndrome in diabetes mellitus (disorder) Nephrotic syndrome in diabetes mellitus (disorder)[accessedResource: SNOMEDCT:197605007][accessDate: 05-04-2011] Nephrotic syndrome in diabetes mellitus[accessedResource: SNOMEDCT:197605007][accessDate: 05-04-2011] Neuralgia, Diabetic Neuralgias, Diabetic Nodular Glomerulosclerosis Nodular Glomerulosclerosis[accessedResource: MSH:D003928][accessDate: 05-04-2011] Painful Diabetic Neuropathies Painful Diabetic Neuropathy Polyneuropathies, Diabetic Polyneuropathies, Diabetic Asymmetric Polyneuropathies, Diabetic Asymmetric[accessedResource: MSH:D003929][accessDate: 05-04-2011] Polyneuropathies, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Polyneuropathy, Diabetic Polyneuropathy, Diabetic Asymmetric Polyneuropathy, Diabetic Asymmetric[accessedResource: MSH:D003929][accessDate: 05-04-2011] Polyneuropathy, Diabetic[accessedResource: MSH:D003929][accessDate: 05-04-2011] Renal disorder associated with diabetes mellitus Renal disorder associated with diabetes mellitus[accessedResource: SNOMEDCT:127013003][accessDate: 05-04-2011] SNOMEDCT:127013003 SNOMEDCT:197605007 SNOMEDCT:21858001 SNOMEDCT:54181000 Simplex, Diabetic Mononeuropathy Simplex, Diabetic Mononeuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Simplices, Diabetic Mononeuropathy Simplices, Diabetic Mononeuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Symmetric Diabetic Proximal Motor Neuropathy Symmetric Diabetic Proximal Motor Neuropathy[accessedResource: MSH:D003929][accessDate: 05-04-2011] Syndrome, Kimmelstiel-Wilson Syndrome, Kimmelstiel-Wilson[accessedResource: MSH:D003928][accessDate: 05-04-2011] Tomasz Adamusiak true diffuse gastric adenocarcinoma Adenocarcinoma of Linitis Plastica Type Adenocarcinoma of Linitis Plastica Type[accessedResource: NCIt:C9159][accessDate: 05-04-2011] Adenocarcinoma of the Linitis Plastica Type Adenocarcinoma of the Linitis Plastica Type[accessedResource: NCIt:C9159][accessDate: 05-04-2011] An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration. An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.[accessedResource: NCIt:C9159][accessDate: 05-04-2011] Diffuse Adenocarcinoma of Stomach Diffuse Adenocarcinoma of Stomach[accessedResource: NCIt:C9159][accessDate: 05-04-2011] Diffuse Adenocarcinoma of the Stomach Diffuse Adenocarcinoma of the Stomach[accessedResource: NCIt:C9159][accessDate: 05-04-2011] Diffuse Stomach Adenocarcinoma Diffuse Stomach Adenocarcinoma[accessedResource: NCIt:C9159][accessDate: 05-04-2011] James Malone NCIt:C9159 diffuse large B-cell lymphoma A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma. A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma.[accessedResource: NCIt:C8851][accessDate: 05-04-2011] DIFFUSE LARGE LYMPHOMA DIFFUSE LARGE LYMPHOMA[accessedResource: MSH:D016403][accessDate: 05-04-2011] DLBCL DLBCL[accessedResource: NCIt:C8851][accessDate: 05-04-2011] Diffuse Histiocytic Lymphoma Diffuse Histiocytic Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Histiocytic Lymphomas Diffuse Histiocytic Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Large Cell Lymphoma Diffuse Large Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Large-Cell Lymphoma Diffuse Large-Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Large-Cell Lymphomas Diffuse Large-Cell Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse, Large B-Cell, Lymphoma Diffuse, Large B-Cell, Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphoma Histiocytic Lymphoma, Diffuse Histiocytic Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphomas Histiocytic Lymphomas, Diffuse Histiocytic Lymphomas, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] LARGE LYMPHOMA LARGE LYMPHOMA DIFFUSE LARGE LYMPHOMA DIFFUSE[accessedResource: MSH:D016403][accessDate: 05-04-2011] LARGE LYMPHOMA[accessedResource: MSH:D016403][accessDate: 05-04-2011] LYMPHOMA DIFFUSE LARGE LYMPHOMA DIFFUSE LARGE[accessedResource: MSH:D016403][accessDate: 05-04-2011] LYMPHOMA LARGE LYMPHOMA LARGE DIFFUSE LYMPHOMA LARGE DIFFUSE[accessedResource: MSH:D016403][accessDate: 05-04-2011] LYMPHOMA LARGE[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large Cell Lymphoma Large Cell Lymphoma, Diffuse Large Cell Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large Lymphoid Lymphoma, Diffuse Large Lymphoid Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphoma Large-Cell Lymphoma, Diffuse Large-Cell Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphomas Large-Cell Lymphomas, Diffuse Large-Cell Lymphomas, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Diffuse Histiocytic Lymphoma, Diffuse Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Diffuse Large Cell Lymphoma, Diffuse Large Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Diffuse Large-Cell Lymphoma, Diffuse Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Histiocytic Lymphoma, Histiocytic, Diffuse Lymphoma, Histiocytic, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large B-Cell, Diffuse Lymphoma, Large B-Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large Cell Lymphoma, Large Cell, Diffuse Lymphoma, Large Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large Lymphoid, Diffuse Lymphoma, Large Lymphoid, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large-Cell Lymphoma, Large-Cell, Diffuse Lymphoma, Large-Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Diffuse Histiocytic Lymphomas, Diffuse Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Diffuse Large-Cell Lymphomas, Diffuse Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Histiocytic Lymphomas, Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Large-Cell Lymphomas, Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] MSH:D016403 Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation. Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.[accessedResource: MSH:D016403][accessDate: 05-04-2011] NCIt:C8851 Tomasz Adamusiak large B-cell lymphoma true diffuse scleroderma A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability. A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability.[accessedResource: MSH:D045743][accessDate: 05-04-2011] DOID:1580 Diffuse cutaneous scleroderma Diffuse cutaneous scleroderma[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011] Diffuse cutaneous systemic sclerosis Diffuse cutaneous systemic sclerosis[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011] Diffuse systemic sclerosis Diffuse systemic sclerosis[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011] GeneRIF:16320328 James Malone MSH:D045743 Progressive Scleroderma Progressive Scleroderma[accessedResource: MSH:D045743][accessDate: 05-04-2011] Progressive Systemic Sclerosis Progressive Systemic Sclerosis[accessedResource: MSH:D045743][accessDate: 05-04-2011] SNOMEDCT:128460000 Scleroderma, Diffuse Scleroderma, Diffuse[accessedResource: MSH:D045743][accessDate: 05-04-2011] Scleroderma, Progressive Scleroderma, Progressive[accessedResource: MSH:D045743][accessDate: 05-04-2011] Scleroderma, Sudden Onset Scleroderma, Sudden Onset[accessedResource: MSH:D045743][accessDate: 05-04-2011] Sclerodermas, Sudden Onset Sclerodermas, Sudden Onset[accessedResource: MSH:D045743][accessDate: 05-04-2011] Sclerosis, Progressive Systemic Sclerosis, Progressive Systemic[accessedResource: MSH:D045743][accessDate: 05-04-2011] Sudden Onset Scleroderma Sudden Onset Scleroderma[accessedResource: MSH:D045743][accessDate: 05-04-2011] Sudden Onset Sclerodermas Sudden Onset Sclerodermas[accessedResource: MSH:D045743][accessDate: 05-04-2011] Systemic Sclerosis, Progressive Systemic Sclerosis, Progressive[accessedResource: MSH:D045743][accessDate: 05-04-2011] Systemic sclerosis, diffuse Systemic sclerosis, diffuse (disorder)[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011] Systemic sclerosis, diffuse[accessedResource: SNOMEDCT:128460000][accessDate: 05-04-2011] systemic sclerosis, diffuse (disorder) digestive system disease Cholera Infantum Cholera Infantum[accessedResource: MSH:D005767][accessDate: 05-04-2011] Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN. Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN.[accessedResource: MSH:D005767][accessDate: 05-04-2011] DIGESTIVE SYSTEM DIS DIGESTIVE SYSTEM DIS[accessedResource: MSH:D004066][accessDate: 05-04-2011] DISEASES OF THE DIGESTIVE SYSTEM DISEASES OF THE DIGESTIVE SYSTEM[accessedResource: ICD9:520-579.99][accessDate: 05-04-2011] DOID:27 Digestive System Diseases Digestive System Diseases[accessedResource: MSH:D004066][accessDate: 05-04-2011] Digestive system diseases NOS Digestive system diseases NOS (disorder) Digestive system diseases NOS (disorder)[accessedResource: SNOMEDCT:197575000][accessDate: 05-04-2011] Digestive system diseases NOS[accessedResource: SNOMEDCT:197575000][accessDate: 05-04-2011] Disease of digestive system Disease of digestive system (disorder) Disease of digestive system (disorder)[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011] Disease of digestive system, NOS Disease of digestive system, NOS[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011] Disease of digestive system[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011] Disease, Digestive System Disease, Digestive System[accessedResource: MSH:D004066][accessDate: 05-04-2011] Disease, Gastrointestinal Disease, Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011] Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS). Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).[accessedResource: MSH:D004066][accessDate: 05-04-2011] Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM. Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.[accessedResource: MSH:D005767][accessDate: 05-04-2011] Diseases, Digestive System Diseases, Digestive System[accessedResource: MSH:D004066][accessDate: 05-04-2011] Diseases, Gastrointestinal Diseases, Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011] Disorder of digestive system Disorder of digestive system (disorder) Disorder of digestive system (disorder)[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011] Disorder of digestive system[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011] Disorder, Functional Gastrointestinal Disorder, Functional Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011] Disorders, Functional Gastrointestinal Disorders, Functional Gastrointestinal[accessedResource: MSH:D005767][accessDate: 05-04-2011] Functional Gastrointestinal Disorder Functional Gastrointestinal Disorder[accessedResource: MSH:D005767][accessDate: 05-04-2011] Functional Gastrointestinal Disorders Functional Gastrointestinal Disorders[accessedResource: MSH:D005767][accessDate: 05-04-2011] Functional digestive disorders, not elsewhere classified Functional digestive disorders, not elsewhere classified[accessedResource: ICD9:564][accessDate: 05-04-2011] GASTROINTESTINAL DIS GASTROINTESTINAL DIS[accessedResource: MSH:D005767][accessDate: 05-04-2011] GIT diseases GIT diseases[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011] Gastrointestinal Disease Gastrointestinal Disease[accessedResource: MSH:D005767][accessDate: 05-04-2011] Gastrointestinal Diseases Gastrointestinal Diseases[accessedResource: MSH:D005767][accessDate: 05-04-2011] Gastrointestinal Disorder, Functional Gastrointestinal Disorder, Functional[accessedResource: MSH:D005767][accessDate: 05-04-2011] Gastrointestinal Disorders, Functional Gastrointestinal Disorders, Functional[accessedResource: MSH:D005767][accessDate: 05-04-2011] Gastrointestinal and digestive disorder Gastrointestinal and digestive disorder[accessedResource: SNOMEDCT:53619000][accessDate: 05-04-2011] ICD9:520-579.99 ICD9:560-569.99 ICD9:564 ICD9:564.4 ICD9:569 ICD9:569.4 ICD9:569.49 ICD9:570-579.99 ICD9:575 Infantum, Cholera Infantum, Cholera[accessedResource: MSH:D005767][accessDate: 05-04-2011] James Malone MSH:D004066 MSH:D005767 OTHER DISEASES OF DIGESTIVE SYSTEM OTHER DISEASES OF DIGESTIVE SYSTEM[accessedResource: ICD9:570-579.99][accessDate: 05-04-2011] OTHER DISEASES OF INTESTINES AND PERITONEUM OTHER DISEASES OF INTESTINES AND PERITONEUM[accessedResource: ICD9:560-569.99][accessDate: 05-04-2011] Other diseases of the intestines and peritoneum Other diseases of the intestines and peritoneum (disorder) Other diseases of the intestines and peritoneum (disorder)[accessedResource: SNOMEDCT:197043006][accessDate: 05-04-2011] Other diseases of the intestines and peritoneum[accessedResource: SNOMEDCT:197043006][accessDate: 05-04-2011] Other disorders of gallbladder Other disorders of gallbladder[accessedResource: ICD9:575][accessDate: 05-04-2011] Other disorders of intestine Other disorders of intestine (disorder) Other disorders of intestine (disorder)[accessedResource: SNOMEDCT:197209006][accessDate: 05-04-2011] Other disorders of intestine[accessedResource: ICD9:569][accessDate: 05-04-2011] Other gallbladder disorders Other gallbladder disorders (disorder) Other gallbladder disorders (disorder)[accessedResource: SNOMEDCT:197407006][accessDate: 05-04-2011] Other gallbladder disorders NOS Other gallbladder disorders NOS (disorder) Other gallbladder disorders NOS (disorder)[accessedResource: SNOMEDCT:197435005][accessDate: 05-04-2011] Other gallbladder disorders NOS[accessedResource: SNOMEDCT:197435005][accessDate: 05-04-2011] Other gallbladder disorders[accessedResource: SNOMEDCT:197407006][accessDate: 05-04-2011] Other intestinal disorders NOS Other intestinal disorders NOS (disorder) Other intestinal disorders NOS (disorder)[accessedResource: SNOMEDCT:197264003][accessDate: 05-04-2011] Other intestinal disorders NOS[accessedResource: SNOMEDCT:197264003][accessDate: 05-04-2011] Other intestine disorders Other intestine disorders[accessedResource: SNOMEDCT:197209006][accessDate: 05-04-2011] Other postoperative functional disorders Other postoperative functional disorders[accessedResource: ICD9:564.4][accessDate: 05-04-2011] Other specified disorders of rectum and anus Other specified disorders of rectum and anus[accessedResource: ICD9:569.4][accessDate: 05-04-2011] POSTOP GI FUNCT DIS NEC POSTOP GI FUNCT DIS NEC[accessedResource: ICD9:564.4][accessDate: 05-04-2011] Pilosebaceous Nevoid disorder Pilosebaceous Nevoid disorder[accessedResource: DOID:27][accessDate: 05-04-2011] RECTAL & ANAL DIS NEC RECTAL & ANAL DIS NEC[accessedResource: ICD9:569.49][accessDate: 05-04-2011] SNOMEDCT:197043006 SNOMEDCT:197209006 SNOMEDCT:197264003 SNOMEDCT:197407006 SNOMEDCT:197435005 SNOMEDCT:197538005 SNOMEDCT:197543003 SNOMEDCT:197569009 SNOMEDCT:197575000 SNOMEDCT:53619000 System Disease, Digestive System Disease, Digestive[accessedResource: MSH:D004066][accessDate: 05-04-2011] System Diseases, Digestive System Diseases, Digestive[accessedResource: MSH:D004066][accessDate: 05-04-2011] Tomasz Adamusiak [X]Other diseases of intestines [X]Other diseases of intestines (disorder) [X]Other diseases of intestines (disorder)[accessedResource: SNOMEDCT:197538005][accessDate: 05-04-2011] [X]Other diseases of intestines[accessedResource: SNOMEDCT:197538005][accessDate: 05-04-2011] [X]Other diseases of the digestive system [X]Other diseases of the digestive system (disorder) [X]Other diseases of the digestive system (disorder)[accessedResource: SNOMEDCT:197569009][accessDate: 05-04-2011] [X]Other diseases of the digestive system[accessedResource: SNOMEDCT:197569009][accessDate: 05-04-2011] [X]Other specified diseases of anus and rectum [X]Other specified diseases of anus and rectum (disorder) [X]Other specified diseases of anus and rectum (disorder)[accessedResource: SNOMEDCT:197543003][accessDate: 05-04-2011] [X]Other specified diseases of anus and rectum[accessedResource: SNOMEDCT:197543003][accessDate: 05-04-2011] acne nevus acne nevus[accessedResource: DOID:27][accessDate: 05-04-2011] intestinal disease intestinal diseases nevus comedonicus (disorder) nevus comedonicus (disorder)[accessedResource: DOID:27][accessDate: 05-04-2011] true dilated cardiomyopathy A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein. A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.[accessedResource: MSH:D002311][accessDate: 05-04-2011] An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently. An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.[accessedResource: DOID:12930][accessDate: 05-04-2011] CCM - Congestive cardiomyopathy CCM - Congestive cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011] COCM - Congestive cardiomyopathy COCM - Congestive cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011] Cardiomyopathies, Congestive Cardiomyopathies, Congestive[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathies, Dilated Cardiomyopathies, Dilated[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathies, Familial Idiopathic Cardiomyopathies, Familial Idiopathic[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathy, Congestive Cardiomyopathy, Congestive[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathy, Dilated Cardiomyopathy, Dilated, CMD1A Cardiomyopathy, Dilated, CMD1A[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathy, Dilated, LMNA Cardiomyopathy, Dilated, LMNA[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathy, Dilated, with Conduction Deffect1 Cardiomyopathy, Dilated, with Conduction Deffect1[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathy, Dilated[accessedResource: MSH:D002311][accessDate: 05-04-2011] Cardiomyopathy, Familial Idiopathic Cardiomyopathy, Familial Idiopathic[accessedResource: MSH:D002311][accessDate: 05-04-2011] Congestive Cardiomyopathies Congestive Cardiomyopathies[accessedResource: MSH:D002311][accessDate: 05-04-2011] Congestive Cardiomyopathy[accessedResource: MSH:D002311][accessDate: 05-04-2011] Congestive cardiomyopathy Congestive cardiomyopathy (disorder) Congestive cardiomyopathy (disorder)[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011] Congestive dilated cardiomyopathy Congestive dilated cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011] DCM - Dilated cardiomyopathy DCM - Dilated cardiomyopathy[accessedResource: SNOMEDCT:399020009][accessDate: 05-04-2011] DOID:12930 Dilated Cardiomyopathies Dilated Cardiomyopathies[accessedResource: MSH:D002311][accessDate: 05-04-2011] Familial Idiopathic Cardiomyopathies Familial Idiopathic Cardiomyopathies[accessedResource: MSH:D002311][accessDate: 05-04-2011] Familial Idiopathic Cardiomyopathy Familial Idiopathic Cardiomyopathy[accessedResource: MSH:D002311][accessDate: 05-04-2011] GeneRIF:11792810 GeneRIF:11846417 GeneRIF:11896212 GeneRIF:11897440 GeneRIF:11950896 GeneRIF:11972068 GeneRIF:11984589 GeneRIF:12072561 GeneRIF:12163370 GeneRIF:12177436 GeneRIF:12197595 GeneRIF:12359139 GeneRIF:12610310 GeneRIF:12628721 GeneRIF:12628722 GeneRIF:12642359 GeneRIF:12644006 GeneRIF:12869376 GeneRIF:12912811 GeneRIF:12920582 GeneRIF:14575316 GeneRIF:14625273 GeneRIF:14660611 GeneRIF:15034580 GeneRIF:15080529 GeneRIF:15146952 GeneRIF:15238456 GeneRIF:15340063 GeneRIF:15345656 GeneRIF:15347805 GeneRIF:15485910 GeneRIF:15601645 GeneRIF:15735644 GeneRIF:15763499 GeneRIF:15833432 GeneRIF:16288714 HP:0001644 Idiopathic Cardiomyopathies, Familial Idiopathic Cardiomyopathies, Familial[accessedResource: MSH:D002311][accessDate: 05-04-2011] Idiopathic Cardiomyopathy, Familial Idiopathic Cardiomyopathy, Familial[accessedResource: MSH:D002311][accessDate: 05-04-2011] James Malone MP:0002795 MSH:D002311 OMIM:115200 Primary dilated cardiomyopathy Primary dilated cardiomyopathy (disorder)[accessedResource: SNOMEDCT:195021004][accessDate: 05-04-2011] Primary dilated cardiomyopathy[accessedResource: SNOMEDCT:195021004][accessDate: 05-04-2011] SNOMEDCT:195021004 SNOMEDCT:399020009 Tomasz Adamusiak decreased function of the heart associated with cardiac enlargement and congestive heart failure decreased function of the heart associated with cardiac enlargement and congestive heart failure[accessedResource: MP:0002795][accessDate: 05-04-2011] primary dilated cardiomyopathy (disorder) true DCM disease A disease is a disposition that describes states of disease associated with a particular sample and/or organism. James Malone disease free survival A temporal measurement of the period after successful treatment in which there is no appearance of the symptoms or effects of the disease. James Malone MSH:D018572 morbidity-free survival true disease staging Dukes C stage describing colon cancer James Malone Jie Zheng MO_792 The stage or progression of a disease in an organism. Includes pathological staging of cancers and other disease progression. E.g. Dukes C stage describing colon cancer Tomasz Adamusiak disease_staging disease_staging[accessedResource: MO_792][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#disease_staging obsolete_disease state 1.6 Acute Lymphocytic Leukemia Duplicate with 'disease factor' EFO_0000408. James Malone Jie Zheng MO_787 The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia Tomasz Adamusiak true distant metastasis free survival Helen Parkinson Is a temporal measure from a defined start point e.g. diagnosis, or treatment of the period to appearance of a distant metastasis. A distant metastasis refers to cancer that has spread from the original (primary) tumor to distant organs or distant lymph nodes. Also known as distant cancer. http://www.cancer.gov/dictionary?cdrid=415317 event distant metastases time to development of distant metastases dorsal apodeme specific anlage FBbt:00005476 James Malone obsolete_ectoderm BTO:0000315 FBbt:00005428 James Malone The outer of the three germ layers of the embryo (the other two being mesoderm and endoderm). Ectoderm gives rise to epidermis and neural tissue. The outer of the three germ layers of the embryo (the other two being mesoderm and endoderm). Ectoderm gives rise to epidermis and neural tissue.[accessedResource: BTO:0000315][accessDate: 05-04-2011] dorsal ectoderm anlage dorsal ectoderm anlage[accessedResource: FBbt:00005428][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000924 label: ectoderm dorsal ectoderm anlage in statu nascendi A0dorEC FBbt:00005832 James Malone dorsal ectoderm primordium FBbt:00005527 James Malone dorEcP2 dorsal ectodermal primordium dorsal ectodermal primordium[accessedResource: FBbt:00005527][accessDate: 05-04-2011] dorsal epidermis primordium FBbt:00005526 James Malone dorEpiP2 dorsal epidermis specific anlage dorsal histoblast nest abdominal FBbt:00001791 James Malone dorsal imaginal precursor FBbt:00005831 James Malone obsolete_dorsal mesothoracic disc Dorsal imaginal disc of the mesothorax. Precursor of dorsal mesothoracic structures of the adult including the postnotum, scutum, scutellum, wing, wing hinge and part of the notal plura. Dorsal imaginal disc of the mesothorax. Precursor of dorsal mesothoracic structures of the adult including the postnotum, scutum, scutellum, wing, wing hinge and part of the notal plura.[accessedResource: FBbt:00001778][accessDate: 05-04-2011] FBbt:00001778 James Malone wing disc wing disc[accessedResource: FBbt:00001778][accessDate: 05-04-2011] duplicate with wing disc - please use that http://www.ebi.ac.uk/efo/EFO_0001933 2.34 true dorsal metathoracic disc Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere. Dorsal imaginal disc of the metathorax. Precursor of structure of the adult dorsal metathorax including the haltere.[accessedResource: FBbt:00001779][accessDate: 05-04-2011] FBbt:00001779 James Malone haltere disc haltere disc[accessedResource: FBbt:00001779][accessDate: 05-04-2011] dorsal pharyngeal muscle primordium FBbt:00005498 James Malone P1 ParMus dorsal prothoracic pharyngeal muscle FBbt:00000489 James Malone dorsal ridge FBbt:00000090 James Malone dorsal trunk specific anlage FBbt:00005489 James Malone dorsomedial neurosecretory cell FBbt:00004011 James Malone dose James Malone The total quantity or strength of a substance administered at one time. obsolete_Duchenne muscular dystrophy An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415) An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)[accessedResource: MSH:D020388][accessDate: 05-04-2011] Becker Muscular Dystrophy Becker Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011] Childhood Muscular Dystrophy, Pseudohypertrophic Childhood Muscular Dystrophy, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011] Childhood Pseudohypertrophic Muscular Dystrophy Childhood Pseudohypertrophic Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011] DMD - Duchenne muscular dystrophy DMD - Duchenne muscular dystrophy[accessedResource: SNOMEDCT:76670001][accessDate: 05-04-2011] DOID:11723 Duchenne Type Progressive Muscular Dystrophy Duchenne Type Progressive Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011] Duchenne musc. dyst. Duchenne musc. dyst.[accessedResource: DOID:11723][accessDate: 05-04-2011] Duchenne muscular dystrophy (disorder) Duchenne muscular dystrophy (disorder)[accessedResource: DOID:11723][accessDate: 05-04-2011] Duchenne-Type Progressive Muscular Dystrophy Duchenne-Type Progressive Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011] Dystrophies, Pseudohypertrophic Muscular Dystrophies, Pseudohypertrophic Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011] Dystrophy, Becker Muscular Dystrophy, Becker Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011] Dystrophy, Duchenne Muscular Dystrophy, Duchenne Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011] Dystrophy, Pseudohypertrophic Muscular Dystrophy, Pseudohypertrophic Muscular[accessedResource: MSH:D020388][accessDate: 05-04-2011] GeneRIF:11922612 GeneRIF:11968010 GeneRIF:12031623 GeneRIF:12206800 GeneRIF:12387876 GeneRIF:12459784 GeneRIF:12609501 GeneRIF:12619170 GeneRIF:12754415 GeneRIF:12754707 GeneRIF:12798793 GeneRIF:12920092 GeneRIF:14511675 GeneRIF:14631123 GeneRIF:14652441 GeneRIF:15111323 GeneRIF:15328150 GeneRIF:15616792 GeneRIF:16295426 James Malone MSH:D020388 Muscular Dystrophies, Pseudohypertrophic Muscular Dystrophies, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011] Muscular Dystrophy, Becker Muscular Dystrophy, Becker[accessedResource: MSH:D020388][accessDate: 05-04-2011] Muscular Dystrophy, Childhood, Pseudohypertrophic Muscular Dystrophy, Childhood, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011] Muscular Dystrophy, Duchenne[accessedResource: MSH:D020388][accessDate: 05-04-2011] Muscular Dystrophy, Pseudohypertrophic Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type[accessedResource: MSH:D020388][accessDate: 05-04-2011] Muscular Dystrophy, Pseudohypertrophic, Childhood Muscular Dystrophy, Pseudohypertrophic, Childhood[accessedResource: MSH:D020388][accessDate: 05-04-2011] Muscular Dystrophy, Pseudohypertrophic[accessedResource: MSH:D020388][accessDate: 05-04-2011] Muscular dystrophy, Duchenne OMIM:310200 Progressive Muscular Dystrophy, Duchenne Type Progressive Muscular Dystrophy, Duchenne Type[accessedResource: MSH:D020388][accessDate: 05-04-2011] Pseudohypertrophic Childhood Muscular Dystrophy Pseudohypertrophic Childhood Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011] Pseudohypertrophic Muscular Dystrophies Pseudohypertrophic Muscular Dystrophies[accessedResource: MSH:D020388][accessDate: 05-04-2011] Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Muscular Dystrophy, Childhood Pseudohypertrophic Muscular Dystrophy, Childhood[accessedResource: MSH:D020388][accessDate: 05-04-2011] Pseudohypertrophic Muscular Dystrophy[accessedResource: MSH:D020388][accessDate: 05-04-2011] SNOMEDCT:76670001 Tomasz Adamusiak true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_13913' instead. New Label : Duchenne muscular dystrophy ductal adenocarcinoma A carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. A carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.[accessedResource: NCIt:C4017][accessDate: 05-04-2011] DOID:3008 Duct Adenocarcinoma Duct Adenocarcinoma[accessedResource: NCIt:C4017][accessDate: 05-04-2011] Duct Carcinoma Duct Carcinoma[accessedResource: NCIt:C4017][accessDate: 05-04-2011] Ductal Carcinoma Ductal Carcinoma of Breast Ductal Carcinoma of Breast[accessedResource: NCIt:C4017][accessDate: 05-04-2011] Ductal Carcinoma of the Breast Ductal Carcinoma of the Breast[accessedResource: NCIt:C4017][accessDate: 05-04-2011] Ductal Carcinoma[accessedResource: NCIt:C4017][accessDate: 05-04-2011] Infiltrating ductal carcinoma of breast Infiltrating ductal carcinoma of breast[accessedResource: DOID:3008][accessDate: 05-04-2011] Invasive ductal carcinoma, NST Invasive ductal carcinoma, NST[accessedResource: DOID:3008][accessDate: 05-04-2011] James Malone NCIt:C4017 ductal breast carcinoma ductal breast carcinoma[accessedResource: DOID:3008][accessDate: 05-04-2011] obsolete_ductal breast carcinoma 1.5 A carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: Ductal carcinoma in situ (DCIS) and invasive ductal carcinoma, not otherwise specified. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist. DOID:3008 Duplicate with invasive ductal carcinoma (EFO_0000186) James Malone NCIt:C4017 true ductal carcinoma in situ DOID:8791 James Malone carcinoma in situ of breast duration 60 seconds duration of centrifugation A temporal measurement of the time between two specified points. James Malone NIFSTD:birnlex_2052 Tomasz Adamusiak ecotype A biotype resulting from selection in a particular habitat, e.g. the A. thaliana Ecotype Ler James Malone MO_71 Tomasz Adamusiak the A. thaliana Ecotype Ler ectoderm anlage in statu nascendi FBbt:00005414 James Malone plant embryo BTO:0001233 GRO:0005343 James Malone MAT:0000226 PO:0009009 The early developmental stage that, through embryological development, ultimately becomes an adult individual. In plants, that portion of a seed that will form the growing seedling following germination; it has a radicle, apical meristem, and embryonic leaf or leaves. The early developmental stage that, through embryological development, ultimately becomes an adult individual. In plants, that portion of a seed that will form the growing seedling following germination; it has a radicle, apical meristem, and embryonic leaf or leaves.[accessedResource: BTO:0001233][accessDate: 05-04-2011] ZEA:0015179 embryo embryo[accessedResource: MAT:0000226][accessDate: 05-04-2011] plant germ embryonal rhabdomyosarcoma A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188) A form of RHABDOMYOSARCOMA arising primarily in the head and neck, especially the orbit, of children below the age of 10. The cells are smaller than those of other rhabdomyosarcomas and are of two basic cell types: spindle cells and round cells. This cancer is highly sensitive to chemotherapy and has a high cure rate with multi-modality therapy. (From Holland et al., Cancer Medicine, 3d ed, p2188)[accessedResource: MSH:D018233][accessDate: 05-04-2011] A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic. A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis. There are three histologic types, spindle cell, botryoid and anaplastic.[accessedResource: NCIt:C8971][accessDate: 05-04-2011] Botryoid sarcoma Botryoid sarcoma[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011] DOID:3246 ERMS ERMS[accessedResource: NCIt:C8971][accessDate: 05-04-2011] Embryonal Rhabdomyosarcomas Embryonal Rhabdomyosarcomas[accessedResource: MSH:D018233][accessDate: 05-04-2011] Embryonal rhabdomyosarcoma (disorder) Embryonal rhabdomyosarcoma (disorder)[accessedResource: SNOMEDCT:404051002][accessDate: 05-04-2011] Embryonal rhabdomyosarcoma (morphologic abnormality) Embryonal rhabdomyosarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011] Embryonal rhabdomyosarcoma, pleomorphic Embryonal rhabdomyosarcoma, pleomorphic[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011] GeneRIF:11846302 GeneRIF:12865925 GeneRIF:12904596 GeneRIF:15024701 GeneRIF:15184910 GeneRIF:15475955 James Malone MSH:D018233 NCIt:C8971 OMIM:268210 Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma, Embryonal[accessedResource: MSH:D018233][accessDate: 05-04-2011] Rhabdomyosarcomas, Embryonal Rhabdomyosarcomas, Embryonal[accessedResource: MSH:D018233][accessDate: 05-04-2011] SNOMEDCT:14269005 SNOMEDCT:404051002 Sarcoma botryoides Sarcoma botryoides[accessedResource: SNOMEDCT:14269005][accessDate: 05-04-2011] Tomasz Adamusiak embryonic anal pad FBbt:00005748 James Malone embryonic antennal sense organ FBbt:00005568 James Malone embryonic brain Brain of the embryo. Brain of the embryo.[accessedResource: FBbt:00001060][accessDate: 05-04-2011] FBbt:00001060 James Malone embryonic central brain FBbt:00005662 James Malone embryonic central brain glia FBbt:00005663 James Malone embryonic central brain mushroom body Embryonic structure from which the mushroom body is derived. The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral protocerebral tract (LTP). During stage 16, a second set of Kenyon cell fibers form a second tract, closely apposed to the first. By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis. Embryonic structure from which the mushroom body is derived. The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral protocerebral tract (LTP). During stage 16, a second set of Kenyon cell fibers form a second tract, closely apposed to the first. By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis.[accessedResource: FBbt:00005508][accessDate: 05-04-2011] FBbt:00005508 James Malone The development of the mushroom body proceeds as follows: Axonogenesis of embryonic Kenyon cells starts late in embryonic stage 14. The axons from these cells extend towards the lateral proto-cerebral tract (LTP). During stage 16, a second set of kenyon cell fibres form a second tract, closely apposed to the first. By late stage 16, both tracts extend anteriorly beyond the LTP to form the distal part of the peduncle. These tracts make a sharp medial turn close to the boundary with the deutocerebrum to form the medial lobe. By late stage 17 the dorsal lobe has emerged as a collateral outgrowth from the point where these tracts bend. Finally, the calyx forms near to the end of embryogenesis. mushroom body primordium mushroom body primordium[accessedResource: FBbt:00005508][accessDate: 05-04-2011] embryonic central brain neuron FBbt:00005665 James Malone embryonic central brain pars intercerebralis FBbt:00005667 James Malone embryonic central brain surface glia FBbt:00005664 James Malone embryonic central nervous system FBbt:00001056 James Malone embryonic corpus allatum A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta. A component of the embryonic/larval ring gland composed of a cluster of about 10 cells that sit medially on top of the aorta.[accessedResource: FBbt:00001719][accessDate: 05-04-2011] FBbt:00001719 James Malone embryonic/larval corpus allatum embryonic/larval corpus allatum[accessedResource: FBbt:00001719][accessDate: 05-04-2011] embryonic corpus cardiacum FBbt:00001720 James Malone P1 CC The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland. The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland. The corpora cardiaca precursor first appear during stage 10 as two pairs of head mesoderm cells between the roof of the stomodeum and the inner surface of the brain primordium. Between stages 11 and 15, these cells migrate posteriorly, gradually increasing in number. During stage 15, they fuse with the precursors of the corpus allatum from the gnathal mesoderm to form the ring gland.[accessedResource: FBbt:00001720][accessDate: 05-04-2011] corpus cardiacum placode corpus cardiacum primordium corpus cardiacum primordium[accessedResource: FBbt:00001720][accessDate: 05-04-2011] embryonic cuprophilic cell FBbt:00005625 James Malone embryonic dorsal apodeme FBbt:00005745 James Malone embryonic dorsal epidermis FBbt:00005744 James Malone embryonic epipharynx FBbt:00005614 James Malone embryonic esophageal ganglion FBbt:00005670 James Malone embryonic esophagus FBbt:00005612 James Malone embryonic foregut FBbt:00005606 James Malone embryonic foregut sensory structure FBbt:00005616 James Malone embryonic frontal ganglion FBbt:00005668 James Malone embryonic ganglion mother cell Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052). Any ganglion mother cell (FBbt:00005149) that is part of some embryo (FBbt:00000052).[accessedResource: FBbt:00001433][accessDate: 05-04-2011] FBbt:00001433 James Malone embryonic gastric caecum . .[accessedResource: FBbt:00005629][accessDate: 05-04-2011] FBbt:00005629 James Malone gastric caecum primordium gastric caecum primordium[accessedResource: FBbt:00005629][accessDate: 05-04-2011] obsolete_embryonic structure An anatomical structure that exists only before the organism is fully formed. In mammals, for example, a structure that exists only prior to the birth of the organism. This structure may be normal or abnormal. An anatomical structure that exists only before the organism is fully formed. In mammals, for example, a structure that exists only prior to the birth of the organism. This structure may be normal or abnormal.[accessedResource: BTO:0000174][accessDate: 05-04-2011] An embryonic specific part is an organism part which is specific to embryos. BTO:0000174 James Malone developmental structure embryonale Struktur true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002050 label: embryonic structure obsolete_Emery-Dreifuss muscular dystrophy A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations. A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.[accessedResource: MSH:D020389][accessDate: 05-04-2011] Autosomal Dominant Emery Dreifuss Muscular Dystrophy Autosomal Dominant Emery Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Autosomal Dominant Emery-Dreifuss Muscular Dystrophy Autosomal Dominant Emery-Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Autosomal Recessive Emery Dreifuss Muscular Dystrophy Autosomal Recessive Emery Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Autosomal Recessive Emery-Dreifuss Muscular Dystrophy Autosomal Recessive Emery-Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Benign scapuloperoneal muscular dystrophy with early contractures Benign scapuloperoneal muscular dystrophy with early contractures[accessedResource: SNOMEDCT:111508004][accessDate: 05-04-2011] DOID:11726 EMD - Emery-Dreifuss muscular dystrophy EMD - Emery-Dreifuss muscular dystrophy[accessedResource: SNOMEDCT:111508004][accessDate: 05-04-2011] Emery Dreifuss Muscular Dystrophy 2 Emery Dreifuss Muscular Dystrophy 2[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery Dreifuss Muscular Dystrophy, Autosomal Recessive Emery Dreifuss Muscular Dystrophy, Autosomal Recessive[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery Dreifuss Muscular Dystrophy, X Linked Emery Dreifuss Muscular Dystrophy, X Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery Dreifuss Syndrome Emery Dreifuss Syndrome[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery-Dreifuss Muscular Dystrophy 2 Emery-Dreifuss Muscular Dystrophy 2[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery-Dreifuss Muscular Dystrophy, X-Linked Emery-Dreifuss Muscular Dystrophy, X-Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery-Dreifuss Syndrome Emery-Dreifuss Syndrome[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Type Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Emery-Dreifuss muscular dystrophy (disorder) Emery-Dreifuss muscular dystrophy (disorder)[accessedResource: DOID:11726][accessDate: 05-04-2011] GeneRIF:11973618 GeneRIF:12467752 GeneRIF:12684533 GeneRIF:12755701 GeneRIF:15009215 Hauptmann Thannhauser Muscular Dystrophy Hauptmann Thannhauser Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Hauptmann-Thannhauser Muscular Dystrophy Hauptmann-Thannhauser Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] James Malone MSH:D020389 Muscular Dystrophy, Emery Dreifuss Muscular Dystrophy, Emery Dreifuss[accessedResource: MSH:D020389][accessDate: 05-04-2011] Muscular Dystrophy, Emery-Dreifuss Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy, Emery-Dreifuss Type[accessedResource: MSH:D020389][accessDate: 05-04-2011] Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant Muscular Dystrophy, Emery-Dreifuss, Autosomal Dominant[accessedResource: MSH:D020389][accessDate: 05-04-2011] Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive Muscular Dystrophy, Emery-Dreifuss, Autosomal Recessive[accessedResource: MSH:D020389][accessDate: 05-04-2011] Muscular Dystrophy, Emery-Dreifuss, X-Linked Muscular Dystrophy, Emery-Dreifuss, X-Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011] Muscular Dystrophy, Emery-Dreifuss[accessedResource: MSH:D020389][accessDate: 05-04-2011] Muscular Dystrophy, Scapuloperoneal Muscular Dystrophy, Scapuloperoneal[accessedResource: MSH:D020389][accessDate: 05-04-2011] OMIM:181350 SNOMEDCT:111508004 SNOMEDCT:129620000 Scapuloilioperoneal Atrophy with Cardiopathy Scapuloilioperoneal Atrophy with Cardiopathy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Scapuloperoneal Muscular Dystrophy Scapuloperoneal Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] Scapuloperoneal Syndrome, X Linked Scapuloperoneal Syndrome, X Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011] Scapuloperoneal Syndrome, X-Linked Scapuloperoneal Syndrome, X-Linked[accessedResource: MSH:D020389][accessDate: 05-04-2011] Scapuloperoneal muscular dystrophy (disorder) Scapuloperoneal muscular dystrophy (disorder)[accessedResource: SNOMEDCT:129620000][accessDate: 05-04-2011] Tomasz Adamusiak X Linked Emery Dreifuss Muscular Dystrophy X Linked Emery Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] X-Linked Emery-Dreifuss Muscular Dystrophy X-Linked Emery-Dreifuss Muscular Dystrophy[accessedResource: MSH:D020389][accessDate: 05-04-2011] X-Linked Scapuloperoneal Syndrome X-Linked Scapuloperoneal Syndrome[accessedResource: MSH:D020389][accessDate: 05-04-2011] 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_59' instead. New Label : Emery-Dreifuss muscular dystrophy emphysema A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing. A subcategory of chronic obstructive pulmonary disease (COPD). It occurs in people who smoke and suffer from chronic bronchitis. It is characterized by inflation of the alveoli, alveolar wall damage, and reduction in the number of alveoli, resulting in difficulty breathing.[accessedResource: NCIt:C3348][accessDate: 05-04-2011] EMPHYSEMA, PULMONARY EMPHYSEMA, PULMONARY[accessedResource: NCIt:C3348][accessDate: 05-04-2011] James Malone MSH:D004646 NCIt:C3348 Pulmonary Emphysema Pulmonary Emphysema[accessedResource: NCIt:C3348][accessDate: 05-04-2011] true endocarditis A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart). A heart disease involving non-infectious inflammation of the endocardium (inner layer of the heart).[accessedResource: DOID:10314][accessDate: 05-04-2011] DOID:10314 Endocarditides Endocarditides, Infective Endocarditides, Infective[accessedResource: MSH:D004696][accessDate: 05-04-2011] Endocarditides[accessedResource: MSH:D004696][accessDate: 05-04-2011] Endocarditis (disorder) Endocarditis (disorder)[accessedResource: SNOMEDCT:56819008][accessDate: 05-04-2011] Endocarditis NOS Endocarditis, Infective Endocarditis, Infective[accessedResource: MSH:D004696][accessDate: 05-04-2011] Endocarditis, NOS Endocarditis, NOS[accessedResource: SNOMEDCT:56819008][accessDate: 05-04-2011] Infective Endocarditides Infective Endocarditides[accessedResource: MSH:D004696][accessDate: 05-04-2011] Infective Endocarditis Infective Endocarditis[accessedResource: MSH:D004696][accessDate: 05-04-2011] Inflammation of the endocardium. Inflammation of the endocardium.[accessedResource: NCIt:C34582][accessDate: 05-04-2011] Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening. Inflammation of the inner lining of the heart (ENDOCARDIUM), the continuous membrane lining the four chambers and HEART VALVES. It is often caused by microorganisms including bacteria, viruses, fungi, and rickettsiae. Left untreated, endocarditis can damage heart valves and become life-threatening.[accessedResource: MSH:D004696][accessDate: 05-04-2011] James Malone MSH:D004696 NCIt:C34582 SNOMEDCT:56819008 acute Endocarditis acute endocarditis (disorder) acute endocarditis NOS (disorder) acute endocarditis, unspecified non-infective endocarditis endometrioid carcinoma Adenocarcinoma, Endometrioid Adenocarcinoma, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011] Adenocarcinomas, Endometrioid Adenocarcinomas, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011] An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues. An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues.[accessedResource: MSH:D018269][accessDate: 05-04-2011] An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament. An adenocarcinoma characterized by the presence of malignant glandular epithelial cells resembling endometrial cells. It can arise from the uterine body, ovary, fallopian tube, cervix, vagina, and uterine ligament.[accessedResource: NCIt:C3769][accessDate: 05-04-2011] Carcinoma, Endometrioid Carcinoma, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011] Carcinomas, Endometrioid Carcinomas, Endometrioid[accessedResource: MSH:D018269][accessDate: 05-04-2011] DOID:3000 Endometrioid Adenocarcinomas Endometrioid Adenocarcinomas[accessedResource: MSH:D018269][accessDate: 05-04-2011] Endometrioid Carcinoma of Female Reproductive System[accessedResource: NCIt:C3769][accessDate: 05-04-2011] Endometrioid Carcinoma of the Female Reproductive System Endometrioid Carcinoma of the Female Reproductive System[accessedResource: NCIt:C3769][accessDate: 05-04-2011] Endometrioid Carcinomas Endometrioid Carcinomas[accessedResource: MSH:D018269][accessDate: 05-04-2011] Endometrioid adenocarcinoma Endometrioid adenocarcinoma[accessedResource: SNOMEDCT:30289006][accessDate: 05-04-2011] Endometrioid carcinoma (morphologic abnormality) Endometrioid carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:30289006][accessDate: 05-04-2011] Endometrioid cystadenocarcinoma Endometrioid cystadenocarcinoma[accessedResource: SNOMEDCT:30289006][accessDate: 05-04-2011] Female Reproductive Endometrioid Carcinoma Female Reproductive Endometrioid Carcinoma[accessedResource: NCIt:C3769][accessDate: 05-04-2011] GeneRIF:11748987 GeneRIF:11957146 GeneRIF:14559803 GeneRIF:14559989 GeneRIF:14599866 GeneRIF:15781627 James Malone MSH:D018269 NCIt:C3769 SNOMEDCT:30289006 endometrioid carcinoma of female Reproductive system obsolete_environment James Malone Synonym of environmental factor The external elements and conditions which surround, influence, and affect the life and development of an organism or population. true environmental factor James Malone The external elements and conditions which surround, influence, and affect the life and development of an organism or population. This should become a material entity with the role of environment environment factor true environmental stress Environmental stress is a treatment where some aspect of the environment is perturbed in order to stress the organism or culture, e.g. change in temperature, change in watering regime EnvironmentalStress EnvironmentalStress[accessedResource: MO_227][accessDate: 05-04-2011] James Malone Jie Zheng MO_227 Tomasz Adamusiak change in temperature, change in watering regime epigenetic factor true epigenetic status Epigenetic status describes the imprinting state of a sample. E.g. Loss of imprinting occurs in some tumour cells Loss of imprinting occurs in some tumour cells true epilepsy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions. A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.[accessedResource: NCIt:C3020][accessDate: 05-04-2011] A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH). A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).[accessedResource: NIFSTD:birnlex_12718][accessDate: 05-04-2011] A disorder characterized by recurrent seizures A disorder characterized by recurrent seizures[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] DOID:1826 EF - Epileptic fit EF - Epileptic fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] EP - Epilepsy EP - Epilepsy[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] EPILEP NEC W/O INTR EPIL EPILEP NEC W/O INTR EPIL[accessedResource: ICD9:345.80][accessDate: 05-04-2011] EPILEP NOS W/O INTR EPIL EPILEP NOS W/O INTR EPIL[accessedResource: ICD9:345.90][accessDate: 05-04-2011] EPILEPSY NEC W INTR EPIL EPILEPSY NEC W INTR EPIL[accessedResource: ICD9:345.81][accessDate: 05-04-2011] EPILEPSY NOS W INTR EPIL EPILEPSY NOS W INTR EPIL[accessedResource: ICD9:345.91][accessDate: 05-04-2011] Epilectic attack, NOS Epilectic attack, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epilepsy (disorder) Epilepsy (disorder)[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epilepsy NOS Epilepsy NOS (disorder) Epilepsy NOS (disorder)[accessedResource: SNOMEDCT:267593008][accessDate: 05-04-2011] Epilepsy NOS[accessedResource: SNOMEDCT:267593008][accessDate: 05-04-2011] Epilepsy and recurrent seizures Epilepsy and recurrent seizures[accessedResource: ICD9:345][accessDate: 05-04-2011] Epilepsy, NOS Epilepsy, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epilepsy, unspecified Epilepsy, unspecified, with intractable epilepsy Epilepsy, unspecified, with intractable epilepsy[accessedResource: ICD9:345.91][accessDate: 05-04-2011] Epilepsy, unspecified, without mention of intractable epilepsy Epilepsy, unspecified, without mention of intractable epilepsy[accessedResource: ICD9:345.90][accessDate: 05-04-2011] Epilepsy, unspecified[accessedResource: ICD9:345.9][accessDate: 05-04-2011] Epileptic Epileptic Seizure Epileptic Seizure[accessedResource: NIFSTD:birnlex_12718][accessDate: 05-04-2011] Epileptic attack Epileptic attack, NOS Epileptic attack, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic attack[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic convulsions Epileptic convulsions, NOS Epileptic convulsions, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic convulsions[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic disorder Epileptic disorder, NOS Epileptic disorder, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic disorder[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic fit Epileptic fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] Epileptic fits Epileptic fits, NOS Epileptic fits, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic fits[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic seizure (finding) Epileptic seizure (finding)[accessedResource: SNOMEDCT:313307000][accessDate: 05-04-2011] Epileptic seizures Epileptic seizures, NOS Epileptic seizures, NOS[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic seizures[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] Epileptic[accessedResource: SNOMEDCT:84757009][accessDate: 05-04-2011] GeneRIF:11889467 GeneRIF:12000122 GeneRIF:12086636 GeneRIF:12095917 GeneRIF:12115687 GeneRIF:12185771 GeneRIF:12205640 GeneRIF:12217514 GeneRIF:12270687 GeneRIF:12435565 GeneRIF:12460603 GeneRIF:12482897 GeneRIF:12533622 GeneRIF:12601092 GeneRIF:12648752 GeneRIF:12686700 GeneRIF:12702713 GeneRIF:12746865 GeneRIF:12773553 GeneRIF:12875997 GeneRIF:12958597 GeneRIF:12960023 GeneRIF:14597704 GeneRIF:14646589 GeneRIF:14660671 GeneRIF:14736855 GeneRIF:14984901 GeneRIF:14985377 GeneRIF:15006707 GeneRIF:15009222 GeneRIF:15026125 GeneRIF:15115830 GeneRIF:15120744 GeneRIF:15159136 GeneRIF:15160397 GeneRIF:15215304 GeneRIF:15254012 GeneRIF:15258581 GeneRIF:15282290 GeneRIF:15288497 GeneRIF:15304595 GeneRIF:15342642 GeneRIF:15452306 GeneRIF:15452324 GeneRIF:15461680 GeneRIF:15483119 GeneRIF:15492925 GeneRIF:15505174 GeneRIF:15505175 GeneRIF:15567475 GeneRIF:15571623 GeneRIF:15637270 GeneRIF:15665077 GeneRIF:15772097 GeneRIF:15790563 GeneRIF:15937479 GeneRIF:15970629 GeneRIF:15979590 GeneRIF:16007083 GeneRIF:16049933 GeneRIF:16091474 GeneRIF:16095760 GeneRIF:16129091 Generalised convulsion Generalised convulsion[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] Generalised fit Generalised fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] Generalised seizure Generalised seizure[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] Generalized convulsion Generalized convulsion[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] Generalized fit Generalized fit[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] Generalized seizure Generalized seizure (finding) Generalized seizure (finding)[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] Generalized seizure[accessedResource: SNOMEDCT:246545002][accessDate: 05-04-2011] ICD9:345 ICD9:345.8 ICD9:345.80 ICD9:345.81 ICD9:345.9 ICD9:345.90 ICD9:345.91 James Malone NCIt:C3020 NIFSTD:birnlex_12718 Other forms of epilepsy Other forms of epilepsy (disorder) Other forms of epilepsy (disorder)[accessedResource: SNOMEDCT:193020001][accessDate: 05-04-2011] Other forms of epilepsy NOS Other forms of epilepsy NOS (disorder) Other forms of epilepsy NOS (disorder)[accessedResource: SNOMEDCT:193025006][accessDate: 05-04-2011] Other forms of epilepsy NOS[accessedResource: SNOMEDCT:193025006][accessDate: 05-04-2011] Other forms of epilepsy and recurrent seizures Other forms of epilepsy and recurrent seizures[accessedResource: ICD9:345.8][accessDate: 05-04-2011] Other forms of epilepsy, with intractable epilepsy Other forms of epilepsy, with intractable epilepsy[accessedResource: ICD9:345.81][accessDate: 05-04-2011] Other forms of epilepsy, without mention of intractable epilepsy Other forms of epilepsy, without mention of intractable epilepsy[accessedResource: ICD9:345.80][accessDate: 05-04-2011] Other forms of epilepsy[accessedResource: SNOMEDCT:193020001][accessDate: 05-04-2011] SNOMEDCT:128613002 SNOMEDCT:193020001 SNOMEDCT:193025006 SNOMEDCT:194491006 SNOMEDCT:246545002 SNOMEDCT:267593008 SNOMEDCT:313307000 SNOMEDCT:84757009 Seizure Disorder[accessedResource: NIFSTD:birnlex_12718][accessDate: 05-04-2011] Seizure disorder Seizure disorder (disorder) Seizure disorder (disorder)[accessedResource: SNOMEDCT:128613002][accessDate: 05-04-2011] Tomasz Adamusiak [X]Other epilepsy [X]Other epilepsy (disorder) [X]Other epilepsy (disorder)[accessedResource: SNOMEDCT:194491006][accessDate: 05-04-2011] [X]Other epilepsy[accessedResource: SNOMEDCT:194491006][accessDate: 05-04-2011] obsolete_epithelial cell of lung 1.9 CL:0000082 James Malone compound term epithelial cell + lung true esophageal adenocarcinoma A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor. A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.[accessedResource: NCIt:C4025][accessDate: 05-04-2011] Adenocarcinoma of Esophagus Adenocarcinoma of esophagus[accessedResource: SNOMEDCT:276803003][accessDate: 05-04-2011] Adenocarcinoma of oesophagus Adenocarcinoma of oesophagus[accessedResource: SNOMEDCT:276803003][accessDate: 05-04-2011] Adenocarcinoma of the Esophagus Adenocarcinoma of the Esophagus[accessedResource: NCIt:C4025][accessDate: 05-04-2011] DOID:4914 Esophagus Adenocarcinoma[accessedResource: NCIt:C4025][accessDate: 05-04-2011] GeneRIF:12112555 GeneRIF:12771886 GeneRIF:15517897 GeneRIF:15526353 GeneRIF:15680394 GeneRIF:15688381 GeneRIF:15720819 GeneRIF:16040301 James Malone NCIt:C4025 OMIM:109350 Oesophageal Adenocarcinoma NOS[accessedResource: NCIt:C4025][accessDate: 05-04-2011] Oesophageal adenocarcinoma NOS SNOMEDCT:276803003 Tomasz Adamusiak adenocarcinoma of esophagus (disorder) adenocarcinoma of esophagus (disorder)[accessedResource: DOID:4914][accessDate: 05-04-2011] esophagus adenocarcinoma essential thrombocythemia A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets. A chronic myeloproliferative and megakaryocytic tumor and thrombocytosis that is a rare chronic disorder that results_in the overproduction of platelets.[accessedResource: DOID:2224][accessDate: 05-04-2011] A chronic myeloproliferative disorder that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. The cause is unknown. Median survival times of 10-15 years are commonly reported. (WHO, 2001) A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. The cause is unknown. Median survival times of 10-15 years are commonly reported. (WHO, 2008) A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. The cause is unknown. Median survival times of 10-15 years are commonly reported. (WHO, 2008)[accessedResource: NCIt:C3407][accessDate: 05-04-2011] A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets. A clinical syndrome characterized by repeated spontaneous hemorrhages and a remarkable increase in the number of circulating platelets.[accessedResource: MSH:D013920][accessDate: 05-04-2011] DOID:2224 Essential (hemorrhagic) thrombocythemia Essential Thrombocytemia Essential Thrombocytemia[accessedResource: NCIt:C3407][accessDate: 05-04-2011] Essential Thrombocythemias Essential Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011] Essential Thrombocytosis Essential haemorrhagic thrombocythaemia Essential haemorrhagic thrombocythaemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011] Essential hemorrhagic thrombocythemia Essential hemorrhagic thrombocythemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011] Essential thrombocythaemia Essential thrombocythaemia (clinical disorder) Essential thrombocythaemia (clinical disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] Essential thrombocythaemia (clinical) Essential thrombocythaemia (clinical)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] Essential thrombocythaemia (disorder) Essential thrombocythaemia (disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] Essential thrombocythaemia[accessedResource: DOID:2224][accessDate: 05-04-2011] Essential thrombocythemia (clinical disorder) Essential thrombocythemia (clinical disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] Essential thrombocythemia (clinical) Essential thrombocythemia (clinical)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] Essential thrombocythemia (disorder) Essential thrombocythemia (disorder)[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] Essential thrombocythemia (morphologic abnormality) Essential thrombocythemia (morphologic abnormality)[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011] Essential thrombocytosis (disorder) Essential thrombocytosis[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] GeneRIF:11860444 GeneRIF:11891801 GeneRIF:12010817 GeneRIF:12091373 GeneRIF:12221665 GeneRIF:12377969 GeneRIF:12756017 GeneRIF:14764528 GeneRIF:14966468 GeneRIF:15837627 Hemorrhagic Thrombocythemia Hemorrhagic Thrombocythemia[accessedResource: MSH:D013920][accessDate: 05-04-2011] Hemorrhagic Thrombocythemias Hemorrhagic Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011] Idiopathic Thrombocythemias Idiopathic Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011] Idiopathic haemorrhagic thrombocythaemia Idiopathic haemorrhagic thrombocythaemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011] Idiopathic hemorrhagic thrombocythemia Idiopathic hemorrhagic thrombocythemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011] Idiopathic thrombocythaemia Idiopathic thrombocythaemia[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] Idiopathic thrombocythemia (disorder) Idiopathic thrombocythemia[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] James Malone MSH:D013920 NCIt:C3407 OMIM:187950 Primary Thrombocythemia Primary Thrombocythemia[accessedResource: MSH:D013920][accessDate: 05-04-2011] Primary Thrombocythemias Primary Thrombocythemias[accessedResource: MSH:D013920][accessDate: 05-04-2011] Primary Thrombocytosis SNOMEDCT:109994006 SNOMEDCT:128844009 Thrombocythemia, Essential Thrombocythemia, Essential[accessedResource: MSH:D013920][accessDate: 05-04-2011] Thrombocythemia, Hemorrhagic Thrombocythemia, Hemorrhagic[accessedResource: MSH:D013920][accessDate: 05-04-2011] Thrombocythemia, Idiopathic Thrombocythemia, Idiopathic[accessedResource: MSH:D013920][accessDate: 05-04-2011] Thrombocythemia, Primary Thrombocythemia, Primary[accessedResource: MSH:D013920][accessDate: 05-04-2011] Thrombocythemias, Essential Thrombocythemias, Essential[accessedResource: MSH:D013920][accessDate: 05-04-2011] Thrombocythemias, Hemorrhagic Thrombocythemias, Hemorrhagic[accessedResource: MSH:D013920][accessDate: 05-04-2011] Thrombocythemias, Idiopathic Thrombocythemias, Idiopathic[accessedResource: MSH:D013920][accessDate: 05-04-2011] Thrombocythemias, Primary Thrombocythemias, Primary[accessedResource: MSH:D013920][accessDate: 05-04-2011] Tomasz Adamusiak [M]Idiopathic thrombocythaemia [M]Idiopathic thrombocythaemia[accessedResource: SNOMEDCT:128844009][accessDate: 05-04-2011] [M]Idiopathic thrombocythemia [M]Idiopathic thrombocythemia[accessedResource: SNOMEDCT:109994006][accessDate: 05-04-2011] idiopathic thrombocythemia primary Thrombocytosis[accessedResource: DOID:2224][accessDate: 05-04-2011] event death An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism. James Malone obsolete_event distant metastases A temporal measurement of an occurrence of a metastasis measured from some defined time point such as diagnosis James Malone candidate for deprecation created as a synonym of distant metastasis survival. true event free survival time James Malone http://en.wikibooks.org/wiki/Radiation_Oncology/Survival_curve_terminology Is the survival of a subject (or group of subjects) measured from the date of diagnosis until locoregional or systemic recurrence, second malignancy, or death from any cause or disease progression or relapse, institution of new unplanned anticancer treatment, or death from any cause. exercise Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness. James Malone MSH:D015444 true obsolete_experiment type An experiment type is an experimental factor describing the area of technology that was used to perform an experiment. ChIP-Chip array This is no longer needed - use process or study design (if the design is for study). true obsolete_experimental design experimental design refers to both observational and experimental (perturbational) studies. The organizing principles of the study including the relationships between assays and the steps taken to interpret the data. obsolete - synonym with experiment type true exposure James Malone The act of subjecting someone or something to an influencing experience. E.g. exposure to cigarette smoke exposure to cigarette smoke external control ratio Use of spiked in controls in a measurement of the spiked in external/internal ratio true extra-adrenal sympathetic paraganglioma A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas. A benign or malignant sympathetic paraganglioma arising from paraganglia outside the adrenal gland. Clinical symptoms are related to secretion of catecholamines. Representative examples include the superior and inferior paraaortic and bladder paragangliomas.[accessedResource: NCIt:C48576][accessDate: 05-04-2011] Extra-Adrenal Chromaffin Neoplasm Extra-Adrenal Chromaffin Neoplasm[accessedResource: NCIt:C48576][accessDate: 05-04-2011] Extra-Adrenal Chromaffinoma Extra-Adrenal Chromaffinoma[accessedResource: NCIt:C48576][accessDate: 05-04-2011] Extra-Adrenal Pheochromocytoma Extra-Adrenal Pheochromocytoma[accessedResource: NCIt:C48576][accessDate: 05-04-2011] Extra-Adrenal Sympathetic Paraganglionic Neoplasm Extra-Adrenal Sympathetic Paraganglionic Neoplasm[accessedResource: NCIt:C48576][accessDate: 05-04-2011] Extraadrenal Pheochromocytoma Extraadrenal Pheochromocytoma[accessedResource: NCIt:C48576][accessDate: 05-04-2011] James Malone NCIt:C48576 extraction protocol DNA/RNA extraction James Malone The procedure used to obtain something from a mixture or compound by chemical or physical or mechanical means, e.g. DNA/RNA extraction obsolete_facioscapulohumeral muscular dystrophy An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420) An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)[accessedResource: MSH:D020391][accessDate: 05-04-2011] Atrophies, Facioscapulohumeral Atrophies, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011] Atrophy, Facioscapulohumeral Atrophy, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011] DOID:11727 Dystrophies, Facioscapulohumeral Muscular Dystrophies, Facioscapulohumeral Muscular[accessedResource: MSH:D020391][accessDate: 05-04-2011] Dystrophies, Landouzy-Dejerine Dystrophies, Landouzy-Dejerine[accessedResource: MSH:D020391][accessDate: 05-04-2011] Dystrophy, Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral Muscular[accessedResource: MSH:D020391][accessDate: 05-04-2011] Dystrophy, Landouzy-Dejerine Dystrophy, Landouzy-Dejerine[accessedResource: MSH:D020391][accessDate: 05-04-2011] FMD - Facioscapulohumeral muscular dystrophy FMD - Facioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011] FSH - Facioscapulohumeral muscular dystrophy FSH - Facioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011] FSHD - Facioscapulohumeral muscular dystrophy FSHD - Facioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011] Facioscapulohumeral Atrophies Facioscapulohumeral Atrophies[accessedResource: MSH:D020391][accessDate: 05-04-2011] Facioscapulohumeral Atrophy Facioscapulohumeral Atrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011] Facioscapulohumeral Muscular Dystrophies Facioscapulohumeral Muscular Dystrophies[accessedResource: MSH:D020391][accessDate: 05-04-2011] Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011] Facioscapulohumeral muscular dystrophy (disorder) Facioscapulohumeral muscular dystrophy (disorder)[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011] Fascioscapulohumeral muscular dystrophy Fascioscapulohumeral muscular dystrophy[accessedResource: SNOMEDCT:399091004][accessDate: 05-04-2011] GeneRIF:12874395 GeneRIF:15520407 GeneRIF:15551024 James Malone Landouzy Dejerine Dystrophy Landouzy Dejerine Dystrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011] Landouzy Dejerine muscular dystrophy Landouzy Dejerine muscular dystrophy[accessedResource: DOID:11727][accessDate: 05-04-2011] Landouzy-Dejerine Dystrophies Landouzy-Dejerine Dystrophies[accessedResource: MSH:D020391][accessDate: 05-04-2011] Landouzy-Dejerine Dystrophy Landouzy-Dejerine Dystrophy[accessedResource: MSH:D020391][accessDate: 05-04-2011] Landouzy-Dejerine muscular dystrophy Landouzy-Dejerine muscular dystrophy[accessedResource: DOID:11727][accessDate: 05-04-2011] MSH:D020391 Muscular Dystrophies, Facioscapulohumeral Muscular Dystrophies, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011] Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy, Facioscapulohumeral[accessedResource: MSH:D020391][accessDate: 05-04-2011] Muscular dystrophy, Landouzy-Dejerine Muscular dystrophy, Landouzy-Dejerine[accessedResource: DOID:11727][accessDate: 05-04-2011] OMIM:158900 Progressive Muscular Dystrophy, Facioscapulohumeral Type Progressive Muscular Dystrophy, Facioscapulohumeral Type[accessedResource: MSH:D020391][accessDate: 05-04-2011] SNOMEDCT:399091004 Tomasz Adamusiak true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_62' instead. New Label : Facioscapulohumeral dystrophy obsolete_familial combined hyperlipidemia A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.[accessedResource: MSH:D006950][accessDate: 05-04-2011] Combined Hyperlipidemia, Familial Combined Hyperlipidemia, Familial[accessedResource: MSH:D006950][accessDate: 05-04-2011] Combined Hyperlipidemias, Familial Combined Hyperlipidemias, Familial[accessedResource: MSH:D006950][accessDate: 05-04-2011] DOID:13809 FCHL - Familial combined hyperlipidaemia FCHL - Familial combined hyperlipidaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] FCHL - Familial combined hyperlipidemia FCHL - Familial combined hyperlipidemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial Combined Hyperlipidemias Familial Combined Hyperlipidemias[accessedResource: MSH:D006950][accessDate: 05-04-2011] Familial combined hyperlipidaemia Familial combined hyperlipidaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial hyperlipoproteinaemia type IIb Familial hyperlipoproteinaemia type IIb[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial hyperlipoproteinemia type IIb Familial hyperlipoproteinemia type IIb[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial multiple lipoprotein-type hyperlipidaemia Familial multiple lipoprotein-type hyperlipidaemia[accessedResource: SNOMEDCT:299465007][accessDate: 05-04-2011] Familial multiple lipoprotein-type hyperlipidemia Familial multiple lipoprotein-type hyperlipidemia[accessedResource: SNOMEDCT:299465007][accessDate: 05-04-2011] Fredrickson type IIb hyperlipoproteinaemia Fredrickson type IIb hyperlipoproteinaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Fredrickson type IIb hyperlipoproteinemia Fredrickson type IIb hyperlipoproteinemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] GeneRIF:11979403 GeneRIF:12006395 GeneRIF:12370850 GeneRIF:12401883 GeneRIF:12468272 GeneRIF:12738753 GeneRIF:14680975 GeneRIF:14991056 GeneRIF:15136067 GeneRIF:15959806 GeneRIF:15976322 GeneRIF:16076849 Hyperapobetalipoproteinaemia Hyperapobetalipoproteinaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Hyperapobetalipoproteinemia Hyperapobetalipoproteinemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Hyperlipidemia, Familial Combined Hyperlipidemia, Familial Combined[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemia, Multiple Lipoprotein Type Hyperlipidemia, Multiple Lipoprotein Type[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemia, Multiple Lipoprotein-Type Hyperlipidemia, Multiple Lipoprotein-Type[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemias, Familial Combined Hyperlipidemias, Familial Combined[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemias, Multiple Lipoprotein-Type Hyperlipidemias, Multiple Lipoprotein-Type[accessedResource: MSH:D006950][accessDate: 05-04-2011] ICD9:272.2 James Malone Lipoprotein-Type Hyperlipidemia, Multiple Lipoprotein-Type Hyperlipidemia, Multiple[accessedResource: MSH:D006950][accessDate: 05-04-2011] Lipoprotein-Type Hyperlipidemias, Multiple Lipoprotein-Type Hyperlipidemias, Multiple[accessedResource: MSH:D006950][accessDate: 05-04-2011] MSH:D006950 Mixed hyperlipidaemia Mixed hyperlipidemia Mixed hyperlipidemia (disorder) Mixed hyperlipidemia[accessedResource: ICD9:272.2][accessDate: 05-04-2011] Multiple Lipoprotein-Type Hyperlipidemia Multiple Lipoprotein-Type Hyperlipidemia[accessedResource: MSH:D006950][accessDate: 05-04-2011] Multiple Lipoprotein-Type Hyperlipidemias Multiple Lipoprotein-Type Hyperlipidemias[accessedResource: MSH:D006950][accessDate: 05-04-2011] Multiple-type hyperlipidaemia Multiple-type hyperlipidaemia[accessedResource: SNOMEDCT:267434003][accessDate: 05-04-2011] Multiple-type hyperlipidemia Multiple-type hyperlipidemia[accessedResource: SNOMEDCT:267434003][accessDate: 05-04-2011] OMIM:144250 SNOMEDCT:238040008 SNOMEDCT:267434003 SNOMEDCT:299465007 Tomasz Adamusiak duplicate of class http://www.orphanet.org/rdfns#pat_id_11237 familial combined hyperlipidemia (disorder) familial combined hyperlipidemia (disorder) [Ambiguous] familial combined hyperlipidemia (disorder) [Ambiguous][accessedResource: DOID:13809][accessDate: 05-04-2011] familial combined hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011] familial multiple lipoprotein-type hyperlipidemia (disorder) familial multiple lipoprotein-type hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011] hyperbetalipoproteinemia with prebetalipoproteinemia hyperbetalipoproteinemia with prebetalipoproteinemia[accessedResource: DOID:13809][accessDate: 05-04-2011] mixed hyperlipidaemia[accessedResource: DOID:13809][accessDate: 05-04-2011] mixed hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011] type IIb hyperlipoproteinemia type IIb hyperlipoproteinemia[accessedResource: DOID:13809][accessDate: 05-04-2011] true 2.33 family history Family history is a form of clinicaly history specifically about relevant aspects of genetic preconditions or family member's clinical history. FamilyHistory FamilyHistory[accessedResource: MO_59][accessDate: 05-04-2011] James Malone Jie Zheng MO_59 Tomasz Adamusiak feature extraction James Malone Jie Zheng MO_928 The process of obtaining quantifiable values from the scanned image of the array. Exact synonyms: image analysis, image quantification Tomasz Adamusiak feature_extraction feature_extraction[accessedResource: MO_928][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#feature_extraction fetal growth restriction DOID:13294 FET GROWTH RET 2500+G FET GROWTH RET 2500+G[accessedResource: ICD9:764.99][accessDate: 05-04-2011] FET GROWTH RET 500-749G FET GROWTH RET 500-749G[accessedResource: ICD9:764.92][accessDate: 05-04-2011] FET GROWTH RET 750-999G FET GROWTH RET 750-999G[accessedResource: ICD9:764.93][accessDate: 05-04-2011] FET GROWTH RETARD <500G FET GROWTH RETARD <500G[accessedResource: ICD9:764.91][accessDate: 05-04-2011] FET GROWTH RETARD WTNOS FET GROWTH RETARD WTNOS[accessedResource: ICD9:764.90][accessDate: 05-04-2011] FET GRWTH RET 1000-1249G FET GRWTH RET 1000-1249G[accessedResource: ICD9:764.94][accessDate: 05-04-2011] FET GRWTH RET 1250-1499G FET GRWTH RET 1250-1499G[accessedResource: ICD9:764.95][accessDate: 05-04-2011] FET GRWTH RET 1500-1749G FET GRWTH RET 1500-1749G[accessedResource: ICD9:764.96][accessDate: 05-04-2011] FET GRWTH RET 1750-1999G FET GRWTH RET 1750-1999G[accessedResource: ICD9:764.97][accessDate: 05-04-2011] FET GRWTH RET 2000-2499G FET GRWTH RET 2000-2499G[accessedResource: ICD9:764.98][accessDate: 05-04-2011] FGR - Fetal growth retardation FGR - Fetal growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Fetal Growth Retardation Fetal growth retardation (disorder) Fetal growth retardation (disorder)[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Fetal growth retardation NOS Fetal growth retardation NOS (disorder) Fetal growth retardation NOS (disorder)[accessedResource: SNOMEDCT:268815007][accessDate: 05-04-2011] Fetal growth retardation NOS[accessedResource: SNOMEDCT:268815007][accessDate: 05-04-2011] Fetal growth retardation, NOS Fetal growth retardation, NOS[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Fetal growth retardation, unspecified Fetal growth retardation, unspecified [weight] Fetal growth retardation, unspecified [weight][accessedResource: ICD9:764.90][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 1,000-1,249 grams Fetal growth retardation, unspecified, 1,000-1,249 grams[accessedResource: ICD9:764.94][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 1,250-1,499 grams Fetal growth retardation, unspecified, 1,250-1,499 grams[accessedResource: ICD9:764.95][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 1,500-1,749 grams Fetal growth retardation, unspecified, 1,500-1,749 grams[accessedResource: ICD9:764.96][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 1,750-1,999 grams Fetal growth retardation, unspecified, 1,750-1,999 grams[accessedResource: ICD9:764.97][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 2,000-2,499 grams Fetal growth retardation, unspecified, 2,000-2,499 grams[accessedResource: ICD9:764.98][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 2,500+ grams Fetal growth retardation, unspecified, 2,500+ grams[accessedResource: ICD9:764.99][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 500-749 grams Fetal growth retardation, unspecified, 500-749 grams[accessedResource: ICD9:764.92][accessDate: 05-04-2011] Fetal growth retardation, unspecified, 750-999 grams Fetal growth retardation, unspecified, 750-999 grams[accessedResource: ICD9:764.93][accessDate: 05-04-2011] Fetal growth retardation, unspecified, less than 500 grams Fetal growth retardation, unspecified, less than 500 grams[accessedResource: ICD9:764.91][accessDate: 05-04-2011] Fetal growth retardation, unspecified[accessedResource: ICD9:764.9][accessDate: 05-04-2011] Fetal growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Foetal growth retardation, NOS Foetal growth retardation, NOS[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] GeneRIF:11738800 GeneRIF:11738801 GeneRIF:11809917 GeneRIF:11903419 GeneRIF:11924936 GeneRIF:12072378 GeneRIF:12362237 GeneRIF:12376298 GeneRIF:12433638 GeneRIF:12576245 GeneRIF:12788896 GeneRIF:12832488 GeneRIF:12920078 GeneRIF:14688210 GeneRIF:14692644 GeneRIF:15166008 GeneRIF:15371566 GeneRIF:15625086 GeneRIF:15695771 GeneRIF:15712600 ICD9:764.9 ICD9:764.90 ICD9:764.91 ICD9:764.92 ICD9:764.93 ICD9:764.94 ICD9:764.95 ICD9:764.96 ICD9:764.97 ICD9:764.98 ICD9:764.99 IUGR - Intrauterine growth retardation IUGR - Intrauterine growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Intrauterine growth retardation Intrauterine growth retardation, NOS Intrauterine growth retardation, NOS[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Intrauterine growth retardation[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] James Malone Microsomia Microsomia[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Microsomic baby Microsomic baby[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Poor fetal growth Poor fetal growth state Poor fetal growth state[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] Poor fetal growth[accessedResource: SNOMEDCT:22033007][accessDate: 05-04-2011] SNOMEDCT:22033007 SNOMEDCT:268815007 fibromatosis A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern.[accessedResource: C3042][accessDate: 05-04-2011] C3042 James Malone follicular thyroid adenoma A benign epithelial tumor with a glandular organization. A benign epithelial tumor with a glandular organization.[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenoma, Basal Cell Adenoma, Basal Cell[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenoma, Follicular Adenoma, Follicular[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenoma, Microcystic Adenoma, Microcystic[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenoma, Monomorphic Adenoma, Monomorphic[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenoma, Papillary Adenoma, Papillary[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenoma, Trabecular Adenoma, Trabecular[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenomas, Basal Cell Adenomas, Basal Cell[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenomas, Follicular Adenomas, Follicular[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenomas, Microcystic Adenomas, Microcystic[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenomas, Monomorphic Adenomas, Monomorphic[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenomas, Papillary Adenomas, Papillary[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenomas, Trabecular Adenomas, Trabecular[accessedResource: MSH:D000236][accessDate: 05-04-2011] Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011] Basal Cell Adenoma Basal Cell Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011] Basal Cell Adenomas Basal Cell Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011] DOID:6204 Follicular Adenoma of Thyroid Follicular Adenoma of Thyroid Gland Follicular Adenoma of Thyroid Gland[accessedResource: NCIt:C3684][accessDate: 05-04-2011] Follicular Adenoma of Thyroid[accessedResource: NCIt:C3684][accessDate: 05-04-2011] Follicular Adenoma of the Thyroid Follicular Adenoma of the Thyroid Gland Follicular Adenoma of the Thyroid Gland[accessedResource: NCIt:C3684][accessDate: 05-04-2011] Follicular Adenoma of the Thyroid[accessedResource: NCIt:C3684][accessDate: 05-04-2011] Follicular Adenoma[accessedResource: NCIt:C3684][accessDate: 05-04-2011] Follicular Adenomas Follicular Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011] Follicular adenoma (morphologic abnormality) Follicular adenoma (morphologic abnormality)[accessedResource: DOID:6204][accessDate: 05-04-2011] GeneRIF:11994357 GeneRIF:14576819 GeneRIF:14666683 GeneRIF:15887854 James Malone MSH:D000236 Microcystic Adenoma Microcystic Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011] Microcystic Adenomas Microcystic Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011] Monomorphic Adenoma Monomorphic Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011] Monomorphic Adenomas Monomorphic Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011] NCIt:C3684 Papillary Adenoma Papillary Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011] Papillary Adenomas Papillary Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011] SNOMEDCT:255034006 SNOMEDCT:55021007 Thyroid Gland Follicular Adenoma Thyroid Gland Follicular Adenoma[accessedResource: NCIt:C3684][accessDate: 05-04-2011] Thyroid follicular adenoma Thyroid follicular adenoma (disorder) Thyroid follicular adenoma (disorder)[accessedResource: SNOMEDCT:255034006][accessDate: 05-04-2011] Thyroid follicular adenoma[accessedResource: SNOMEDCT:255034006][accessDate: 05-04-2011] Trabecular Adenoma Trabecular Adenoma[accessedResource: MSH:D000236][accessDate: 05-04-2011] Trabecular Adenomas Trabecular Adenomas[accessedResource: MSH:D000236][accessDate: 05-04-2011] follicular adenoma ganglioneuroma A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide (MeSH). A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. The tumor may present clinically with HORNER SYNDROME or diarrhea due to ectopic production of vasoactive intestinal peptide (MeSH).[accessedResource: NIFSTD:birnlex_12617][accessDate: 05-04-2011] A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray. A benign neuroblastic tumor of the sympathetic nervous system that occurs in childhood. Ganglioneuroma typically arises from the sympathetic trunk in the mediastinum. Histologic features include spindle cell proliferation (resembling a neurofibroma) and the presence of large ganglion cells. Common presenting features include a palpable abdominal mass, hepatomegaly, and a thoracic mass detected on routine chest X-ray.[accessedResource: NCIt:C3049][accessDate: 05-04-2011] Gangliocytoma Gangliocytoma[accessedResource: NIFSTD:birnlex_12617][accessDate: 05-04-2011] Ganglioneuroma (Schwannian Stroma-Dominant) Ganglioneuroma (Schwannian Stroma-Dominant)[accessedResource: NCIt:C3049][accessDate: 05-04-2011] James Malone NCIt:C3049 NIFSTD:birnlex_12617 Tomasz Adamusiak follicular thyroid carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterise the thyroid gland papillary carcinoma are absent. It is linked to radiation and comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound and fine needle biopsy. Treatment options include: partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation. A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterise the thyroid gland papillary carcinoma are absent. It is linked to radiation and comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound and fine needle biopsy. Treatment options include: partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Adenocarcinoma, Follicular Adenocarcinomas, Follicular Adenocarcinomas, Follicular[accessedResource: MSH:D018263][accessDate: 05-04-2011] An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). (NCI05) An adenocarcinoma arising from the follicular cells of the thyroid gland. According to the degree of differentiation, it is classified either as differentiated carcinoma (extensive evidence of follicular cell differentiation), or poorly differentiated carcinoma (limited evidence of follicular cell differentiation). (NCI05)[accessedResource: NCIt:C27380][accessDate: 05-04-2011] An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed) An adenocarcinoma of the thyroid gland, in which the cells are arranged in the form of follicles. (From Dorland, 27th ed)[accessedResource: MSH:D018263][accessDate: 05-04-2011] DOID:3962 FTC - Follicular thyroid carcinoma FTC - Follicular thyroid carcinoma[accessedResource: SNOMEDCT:255028004][accessDate: 05-04-2011] Follicular Adenocarcinoma Follicular Adenocarcinoma[accessedResource: MSH:D018263][accessDate: 05-04-2011] Follicular Adenocarcinomas Follicular Adenocarcinomas[accessedResource: MSH:D018263][accessDate: 05-04-2011] Follicular Cancer of Thyroid Follicular Cancer of Thyroid Gland Follicular Cancer of Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Cancer of Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Cancer of the Thyroid Follicular Cancer of the Thyroid Gland Follicular Cancer of the Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Cancer of the Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Carcinoma of Thyroid Follicular Carcinoma of Thyroid Gland Follicular Carcinoma of Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Carcinoma of Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Carcinoma of the Thyroid Follicular Carcinoma of the Thyroid Gland[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Carcinoma of the Thyroid[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Thyroid Cancer Follicular Thyroid Cancer[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular Thyroid Gland Carcinoma Follicular Thyroid Gland Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Follicular adenocarcinoma (morphologic abnormality) Follicular adenocarcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011] Follicular adenocarcinoma - well differentiated Follicular adenocarcinoma - well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011] Follicular adenocarcinoma, NOS Follicular adenocarcinoma, NOS[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011] Follicular adenocarcinoma, well differentiated Follicular adenocarcinoma, well differentiated (morphologic abnormality) Follicular adenocarcinoma, well differentiated (morphologic abnormality)[accessedResource: DOID:3962][accessDate: 05-04-2011] Follicular adenocarcinoma, well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011] Follicular carcinoma Follicular carcinoma - well differentiated Follicular carcinoma - well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011] Follicular carcinoma of the Thyroid gland Follicular carcinoma, NOS Follicular carcinoma, NOS[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011] Follicular carcinoma, well differentiated Follicular carcinoma, well differentiated[accessedResource: SNOMEDCT:28173006][accessDate: 05-04-2011] Follicular carcinoma[accessedResource: SNOMEDCT:5257006][accessDate: 05-04-2011] Follicular thyroid carcinoma (disorder) Follicular thyroid carcinoma (disorder)[accessedResource: DOID:3962][accessDate: 05-04-2011] GeneRIF:14568171 GeneRIF:14666683 James Malone MSH:D018263 NCIt:C27380 NCIt:C8054 OMIM:188470 SNOMEDCT:189642005 SNOMEDCT:255028004 SNOMEDCT:28173006 SNOMEDCT:5257006 Thyroid Adenocarcinoma[accessedResource: NCIt:C27380][accessDate: 05-04-2011] Thyroid Follicular Carcinoma Thyroid Follicular Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Thyroid Gland Adenocarcinoma Thyroid Gland Adenocarcinoma[accessedResource: NCIt:C27380][accessDate: 05-04-2011] Thyroid Gland Follicular Carcinoma Thyroid Gland Follicular Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Tomasz Adamusiak Well-Differentiated Follicular Adenocarcinoma Well-Differentiated Follicular Adenocarcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011] Well-Differentiated Follicular Carcinoma Well-Differentiated Follicular Carcinoma[accessedResource: NCIt:C8054][accessDate: 05-04-2011] [M]Follicular adenocarcinoma NOS [M]Follicular adenocarcinoma NOS (morphologic abnormality) [M]Follicular adenocarcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189642005][accessDate: 05-04-2011] [M]Follicular adenocarcinoma NOS[accessedResource: SNOMEDCT:189642005][accessDate: 05-04-2011] [M]Follicular carcinoma [M]Follicular carcinoma[accessedResource: SNOMEDCT:189642005][accessDate: 05-04-2011] ganglioneuroblastoma A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH). A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea (MeSH).[accessedResource: NIFSTD:birnlex_12633][accessDate: 05-04-2011] A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea. A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea.[accessedResource: MSH:D018305][accessDate: 05-04-2011] A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, and nodular. A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular. A neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.[accessedResource: NCIt:C3790][accessDate: 05-04-2011] DOID:4163 Ganglioneuroblastoma (morphologic abnormality) Ganglioneuroblastoma (morphologic abnormality)[accessedResource: SNOMEDCT:69515008][accessDate: 05-04-2011] Ganglioneuroblastomas Ganglioneuroblastomas[accessedResource: MSH:D018305][accessDate: 05-04-2011] GeneRIF:12185600 James Malone MSH:D018305 NCIt:C3790 NIFSTD:birnlex_12633 SNOMEDCT:69515008 Tomasz Adamusiak gastric adenocarcinoma Adenocarcinoma of Stomach Adenocarcinoma of Stomach[accessedResource: NCIt:C4004][accessDate: 05-04-2011] Adenocarcinoma of stomach (disorder)[accessedResource: SNOMEDCT:408647009][accessDate: 05-04-2011] Adenocarcinoma of the Stomach Adenocarcinoma of the Stomach[accessedResource: NCIt:C4004][accessDate: 05-04-2011] An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals, most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter Pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a "curative" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).[accessedResource: NCIt:C4004][accessDate: 05-04-2011] An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals, most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter Pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a &quot;curative&quot; resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999). DOID:3717 James Malone NCIt:C4004 SNOMEDCT:408647009 Stomach Adenocarcinoma Stomach Adenocarcinoma[accessedResource: NCIt:C4004][accessDate: 05-04-2011] adenocarcinoma of stomach (disorder) curative gastric intestinal type adenocarcinoma An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated. An adenocarcinoma of the stomach arising on a background of intestinal metaplasia. Microscopically, it is characterized by a glandular pattern and it closely resembles a colonic adenocarcinoma. Grossly, it tends to be nodular, polypoid or ulcerated.[accessedResource: NCIt:C9157][accessDate: 05-04-2011] DOID:8026 Intestinal Adenocarcinoma of Stomach Intestinal Adenocarcinoma of Stomach[accessedResource: NCIt:C9157][accessDate: 05-04-2011] Intestinal Adenocarcinoma of the Stomach Intestinal Gastric Adenocarcinoma Intestinal Gastric Adenocarcinoma[accessedResource: NCIt:C9157][accessDate: 05-04-2011] Intestinal Stomach Adenocarcinoma Intestinal Stomach Adenocarcinoma[accessedResource: NCIt:C9157][accessDate: 05-04-2011] James Malone NCIt:C9157 intestinal adenocarcinoma of the stomach[accessedResource: DOID:8026][accessDate: 05-04-2011] obsolete_gastrointestinal stromal tumor All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA). All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).[accessedResource: MSH:D046152][accessDate: 05-04-2011] DOID:9253 GANT GANT[accessedResource: DOID:9253][accessDate: 05-04-2011] GIST GIST[accessedResource: DOID:9253][accessDate: 05-04-2011] Gastrointestinal Stromal Neoplasm Gastrointestinal Stromal Neoplasm[accessedResource: MSH:D046152][accessDate: 05-04-2011] Gastrointestinal Stromal Neoplasms Gastrointestinal Stromal Neoplasms[accessedResource: MSH:D046152][accessDate: 05-04-2011] Gastrointestinal Stromal Sarcoma Gastrointestinal Stromal Sarcoma[accessedResource: MSH:D046152][accessDate: 05-04-2011] Gastrointestinal Stromal Tumors Gastrointestinal Stromal Tumors[accessedResource: MSH:D046152][accessDate: 05-04-2011] James Malone MSH:D046152 Neoplasm, Gastrointestinal Stromal Neoplasm, Gastrointestinal Stromal[accessedResource: MSH:D046152][accessDate: 05-04-2011] Neoplasms, Gastrointestinal Stromal Neoplasms, Gastrointestinal Stromal[accessedResource: MSH:D046152][accessDate: 05-04-2011] OMIM:606764 Stromal Neoplasm, Gastrointestinal Stromal Neoplasm, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011] Stromal Neoplasms, Gastrointestinal Stromal Neoplasms, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011] Stromal Tumor, Gastrointestinal Stromal Tumor, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011] Stromal Tumors, Gastrointestinal Stromal Tumors, Gastrointestinal[accessedResource: MSH:D046152][accessDate: 05-04-2011] Stromal tumor of Gastrointestinal tract Stromal tumor of gastrointestinal tract[accessedResource: DOID:9253][accessDate: 05-04-2011] Tomasz Adamusiak true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_10584' instead. New Label : Gastrointestinal stromal tumor gene knock out Jie Zheng MO_771 Tomasz Adamusiak gene_knock_out gene_knock_out[accessedResource: MO_771][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#gene_knock_out true generation James Malone Jie Zheng MO_43 Quality? Is this intrinsic to the organism? The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations. Tomasz Adamusiak genetic disorder A genetic disorder is a disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state. Note, this not imply that the disorder is hereditary since genetic mutations can occur during life time and are not always directly inherited or presented in parents (although they can be). James Malone obsolete_genetic factor Jie Zheng MO_557 Tomasz Adamusiak true No longer required as information entity, child class has been moved to process. 2.17 genetic modification A genetic modification of the genome of an organism which may occur naturally by spontaneous mutation, or be introduced by some experimental means. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection. Examples of genetic modification include specification of a transgene or the gene knocked-out or details of transient transfection Jie Zheng MO_927 Tomasz Adamusiak genetic_modification genetic_modification[accessedResource: MO_927][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#genetic_modification true genetic trait Genetic traits are small inherited parts of the phenotype of an organism James Malone reproductive system disease DOID:14563 DOID:15 Disorder of reproductive system Disorder of reproductive system (disorder) Disorder of reproductive system (disorder)[accessedResource: SNOMEDCT:362968007][accessDate: 05-04-2011] Disorder of reproductive system[accessedResource: SNOMEDCT:362968007][accessDate: 05-04-2011] James Malone Non-neoplastic Reproductive system disease Non-neoplastic Reproductive system disease[accessedResource: DOID:15][accessDate: 05-04-2011] SNOMEDCT:362968007 Tomasz Adamusiak genital system disease genital system disease[accessedResource: DOID:15][accessDate: 05-04-2011] genotype Information, making the distinction between the actual physical material (e.g. a cell) and the information about the genetic content (genotype). James Malone Jie Zheng MO_51 NIFSTD:birnlex_2023 The total sum of the genetic information of an organism that is known and relevant to the experiment being performed, including chromosomal, plasmid, viral or other genetic material which has been introduced into the organism either prior to or during the experiment. Tomasz Adamusiak germ cell tumor A cancer that is derived_from germ cells. A cancer that is derived_from germ cells.[accessedResource: DOID:2994][accessDate: 05-04-2011] Cancer, Embryonal Cancer, Embryonal and Mixed Cancer, Embryonal and Mixed[accessedResource: MSH:D009373][accessDate: 05-04-2011] Cancer, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011] Cancer, Germ Cell Cancer, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011] Cancers, Embryonal Cancers, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011] Cancers, Germ Cell Cancers, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011] DOID:2994 EMBRYONAL NEOPL EMBRYONAL NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011] Embryonal Cancer Embryonal Cancer[accessedResource: MSH:D009373][accessDate: 05-04-2011] Embryonal Cancers Embryonal Cancers[accessedResource: MSH:D009373][accessDate: 05-04-2011] Embryonal Neoplasm Embryonal Neoplasm[accessedResource: MSH:D009373][accessDate: 05-04-2011] Embryonal Neoplasms Embryonal Neoplasms[accessedResource: MSH:D009373][accessDate: 05-04-2011] GERM CELL EMBRYONAL NEOPL GERM CELL EMBRYONAL NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011] GERM CELL EMBRYONIC NEOPL GERM CELL EMBRYONIC NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011] GERM CELL NEOPL GERM CELL NEOPL[accessedResource: MSH:D009373][accessDate: 05-04-2011] GeneRIF:12163388 GeneRIF:12620992 GeneRIF:12629412 GeneRIF:12727846 GeneRIF:12736724 GeneRIF:12777997 GeneRIF:12824871 GeneRIF:14555521 GeneRIF:14633588 GeneRIF:15330164 GeneRIF:15467433 GeneRIF:15491742 GeneRIF:15691383 GeneRIF:15896468 GeneRIF:15982323 GeneRIF:16188233 Germ Cell Cancer Germ Cell Cancer[accessedResource: MSH:D009373][accessDate: 05-04-2011] Germ Cell Cancers Germ Cell Cancers[accessedResource: MSH:D009373][accessDate: 05-04-2011] Germ Cell Neoplasms Germ Cell Neoplasms[accessedResource: NCIt:C3708][accessDate: 05-04-2011] Germ Cell Tumors Germ Cell Tumors[accessedResource: MSH:D009373][accessDate: 05-04-2011] Germ Cell and Embryonal Neoplasms Germ Cell and Embryonal Neoplasms[accessedResource: MSH:D009373][accessDate: 05-04-2011] Germ Cell and Embryonic Neoplasms Germ Cell and Embryonic Neoplasms[accessedResource: MSH:D009373][accessDate: 05-04-2011] Germ cell neoplasm Germ cell neoplasm (morphologic abnormality) Germ cell neoplasm (morphologic abnormality)[accessedResource: SNOMEDCT:115233005][accessDate: 05-04-2011] Germ cell neoplasm NOS (morphologic abnormality) Germ cell neoplasm[accessedResource: SNOMEDCT:115233005][accessDate: 05-04-2011] Germ cell neoplasms (morphologic abnormality) Germ cell tumor (disorder) Germ cell tumor (disorder)[accessedResource: SNOMEDCT:402878003][accessDate: 05-04-2011] Germ cell tumor, NOS Germ cell tumor, NOS[accessedResource: SNOMEDCT:28307001][accessDate: 05-04-2011] Germ cell tumour Germ cell tumour[accessedResource: SNOMEDCT:402878003][accessDate: 05-04-2011] Germinoma Germinoma (morphologic abnormality) Germinoma (morphologic abnormality)[accessedResource: SNOMEDCT:28307001][accessDate: 05-04-2011] Germinoma[accessedResource: SNOMEDCT:28307001][accessDate: 05-04-2011] James Malone MSH:D009373 NCIt:C3708 NEOPL EMBRYONAL NEOPL EMBRYONAL[accessedResource: MSH:D009373][accessDate: 05-04-2011] NEOPL GERM CELL NEOPL GERM CELL EMBRYONAL NEOPL GERM CELL EMBRYONAL[accessedResource: MSH:D009373][accessDate: 05-04-2011] NEOPL GERM CELL EMBRYONIC NEOPL GERM CELL EMBRYONIC[accessedResource: MSH:D009373][accessDate: 05-04-2011] NEOPL GERM CELL[accessedResource: MSH:D009373][accessDate: 05-04-2011] Neoplasm of Germ Cell Neoplasm of Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011] Neoplasm of the Germ Cell Neoplasm of the Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011] Neoplasm, Embryonal Neoplasm, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011] Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS.[accessedResource: MSH:D009373][accessDate: 05-04-2011] Neoplasms, Embryonal Neoplasms, Embryonal and Mixed Neoplasms, Embryonal and Mixed[accessedResource: MSH:D009373][accessDate: 05-04-2011] Neoplasms, Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011] Neoplasms, Germ Cell Neoplasms, Germ Cell and Embryonal Neoplasms, Germ Cell and Embryonal[accessedResource: MSH:D009373][accessDate: 05-04-2011] Neoplasms, Germ Cell and Embryonic Neoplasms, Germ Cell and Embryonic[accessedResource: MSH:D009373][accessDate: 05-04-2011] Neoplasms, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011] SNOMEDCT:115233005 SNOMEDCT:189839002 SNOMEDCT:189854008 SNOMEDCT:28307001 SNOMEDCT:402878003 Tumor of Germ Cell Tumor of Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011] Tumor of the Germ Cell Tumor of the Germ Cell[accessedResource: NCIt:C3708][accessDate: 05-04-2011] Tumor, Germ Cell Tumor, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011] Tumors, Germ Cell Tumors, Germ Cell[accessedResource: MSH:D009373][accessDate: 05-04-2011] [M]Germ cell neoplasm NOS [M]Germ cell neoplasm NOS (morphologic abnormality) [M]Germ cell neoplasm NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189854008][accessDate: 05-04-2011] [M]Germ cell neoplasm NOS[accessedResource: SNOMEDCT:189854008][accessDate: 05-04-2011] [M]Germ cell neoplasms [M]Germ cell neoplasms (morphologic abnormality) [M]Germ cell neoplasms (morphologic abnormality)[accessedResource: SNOMEDCT:189839002][accessDate: 05-04-2011] [M]Germ cell neoplasms[accessedResource: SNOMEDCT:189839002][accessDate: 05-04-2011] malignant tumor of the germ cell malignant tumor of the germ cell[accessedResource: DOID:2994][accessDate: 05-04-2011] true obsolete_brain tumor glioblastoma 1.5 A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. A rare histological variant of glioblastoma (WHO grade IV) with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO) DOID:3074 James Malone MSH:D005909 NCIt:C4325 SNOMEDCT:44529004 duplication with glioblastoma (EFO_0000519) true http://www.ebi.ac.uk/efo/EFO_0000303 glaucoma An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed) An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)[accessedResource: MSH:D005901][accessDate: 05-04-2011] DOID:1686 GLAUCOMA NEC GLAUCOMA NEC[accessedResource: ICD9:365.89][accessDate: 05-04-2011] GeneRIF:11774072 GeneRIF:11910561 GeneRIF:12060848 GeneRIF:12073024 GeneRIF:12655282 GeneRIF:12676895 GeneRIF:12687498 GeneRIF:12789547 GeneRIF:12811537 GeneRIF:12828935 GeneRIF:12920093 GeneRIF:14725620 GeneRIF:14740993 GeneRIF:15304601 GeneRIF:15326130 GeneRIF:15342693 GeneRIF:15370540 GeneRIF:15498064 GeneRIF:15509533 GeneRIF:15519534 GeneRIF:15557444 GeneRIF:15579465 GeneRIF:15638362 GeneRIF:15677485 GeneRIF:15723004 GeneRIF:15823921 GeneRIF:15895394 GeneRIF:16043855 GeneRIF:16103353 Glaucoma (disorder) Glaucoma (disorder)[accessedResource: SNOMEDCT:23986001][accessDate: 05-04-2011] Glaucoma NOS Glaucoma NOS (disorder) Glaucoma NOS (disorder)[accessedResource: SNOMEDCT:193569008][accessDate: 05-04-2011] Glaucoma NOS[accessedResource: SNOMEDCT:193569008][accessDate: 05-04-2011] Glaucoma associated with other ocular disorders Glaucoma associated with other ocular disorders (disorder) Glaucoma associated with other ocular disorders (disorder)[accessedResource: SNOMEDCT:193559002][accessDate: 05-04-2011] Glaucoma associated with other ocular disorders NOS Glaucoma associated with other ocular disorders NOS (disorder) Glaucoma associated with other ocular disorders NOS (disorder)[accessedResource: SNOMEDCT:193565002][accessDate: 05-04-2011] Glaucoma associated with other ocular disorders NOS[accessedResource: SNOMEDCT:193565002][accessDate: 05-04-2011] Glaucoma associated with other ocular disorders[accessedResource: ICD9:365.6][accessDate: 05-04-2011] Glaucoma, NOS Glaucoma, NOS[accessedResource: SNOMEDCT:23986001][accessDate: 05-04-2011] Glaucomas Glaucomas[accessedResource: MSH:D005901][accessDate: 05-04-2011] ICD9:365 ICD9:365.6 ICD9:365.8 ICD9:365.89 ICD9:365.9 Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor. Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.[accessedResource: NCIt:C26782][accessDate: 05-04-2011] James Malone MSH:D005901 NCIt:C26782 Other specified forms of glaucoma Other specified forms of glaucoma (disorder) Other specified forms of glaucoma (disorder)[accessedResource: SNOMEDCT:193566001][accessDate: 05-04-2011] Other specified forms of glaucoma[accessedResource: SNOMEDCT:193566001][accessDate: 05-04-2011] Other specified glaucoma Other specified glaucoma NOS Other specified glaucoma NOS (disorder) Other specified glaucoma NOS (disorder)[accessedResource: SNOMEDCT:193568000][accessDate: 05-04-2011] Other specified glaucoma NOS[accessedResource: SNOMEDCT:193568000][accessDate: 05-04-2011] Other specified glaucoma[accessedResource: ICD9:365.89][accessDate: 05-04-2011] SNOMEDCT:193559002 SNOMEDCT:193565002 SNOMEDCT:193566001 SNOMEDCT:193568000 SNOMEDCT:193569008 SNOMEDCT:23986001 Tomasz Adamusiak Unspecified glaucoma Unspecified glaucoma[accessedResource: ICD9:365.9][accessDate: 05-04-2011] true obsolete_glial cell (sensu Vertebrata) 1.9 A non-neuronal cell of the nervous system. They not only provide physical support, but also respond to injury, regulate the ionic and chemical composition of the extracellular milieu. Form the myelin insulation of nervous pathways, guide neuronal migration during development, and exchange metabolites with neurons. Neuroglia have high-affinity transmitter uptake systems, voltage-dependent and transmitter-gated ion channels, and can release transmitters, but their role in signaling (as in many other functions) is unclear. CL:0000243 James Malone true use EFO_0000517 glioblastoma multiforme A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH). A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures (MeSH).[accessedResource: NIFSTD:birnlex_12620][accessDate: 05-04-2011] A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures.[accessedResource: MSH:D005909][accessDate: 05-04-2011] Astrocytoma, Grade IV Astrocytoma, Grade IV[accessedResource: NIFSTD:birnlex_12620][accessDate: 05-04-2011] Astrocytomas, Grade IV Astrocytomas, Grade IV[accessedResource: MSH:D005909][accessDate: 05-04-2011] DOID:3068 GBM GBM (Glioblastoma) GBM (Glioblastoma)[accessedResource: NCIt:C3058][accessDate: 05-04-2011] GBM - Glioblastoma multiforme GBM - Glioblastoma multiforme[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011] GBM[accessedResource: NCIt:C3058][accessDate: 05-04-2011] GLM - Glioblastoma multiforme GLM - Glioblastoma multiforme[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011] GeneRIF:11593297 GeneRIF:11741977 GeneRIF:11809760 GeneRIF:11856869 GeneRIF:11875718 GeneRIF:11916499 GeneRIF:11953893 GeneRIF:11959893 GeneRIF:11980654 GeneRIF:12073047 GeneRIF:12082608 GeneRIF:12084347 GeneRIF:12125737 GeneRIF:12133571 GeneRIF:12169389 GeneRIF:12407114 GeneRIF:12414663 GeneRIF:12445161 GeneRIF:12483523 GeneRIF:12507886 GeneRIF:12517803 GeneRIF:12543796 GeneRIF:12704666 GeneRIF:12783249 GeneRIF:12839970 GeneRIF:12845671 GeneRIF:12850541 GeneRIF:12918061 GeneRIF:14519668 GeneRIF:14555979 GeneRIF:14654927 GeneRIF:14676120 GeneRIF:14686729 GeneRIF:14692702 GeneRIF:14701753 GeneRIF:14712484 GeneRIF:14730346 GeneRIF:14753494 GeneRIF:15029197 GeneRIF:15041700 GeneRIF:15094455 GeneRIF:15119015 GeneRIF:15122332 GeneRIF:15153340 GeneRIF:15198128 GeneRIF:15332324 GeneRIF:15332332 GeneRIF:15339919 GeneRIF:15364411 GeneRIF:15493013 GeneRIF:15509542 GeneRIF:15557280 GeneRIF:15561105 GeneRIF:15605984 GeneRIF:15618223 GeneRIF:15627206 GeneRIF:15696971 GeneRIF:15719270 GeneRIF:15827123 GeneRIF:15867231 GeneRIF:15893739 GeneRIF:15906353 GeneRIF:15908427 GeneRIF:15928303 GeneRIF:15967096 GeneRIF:15967113 GeneRIF:15975137 GeneRIF:15986444 GeneRIF:16003758 GeneRIF:16051185 GeneRIF:16051596 GeneRIF:16078115 GeneRIF:16150119 GeneRIF:16171786 GeneRIF:16215635 GeneRIF:16251422 GeneRIF:16264179 Giant Cell Glioblastoma Giant Cell Glioblastoma[accessedResource: MSH:D005909][accessDate: 05-04-2011] Giant Cell Glioblastomas Giant Cell Glioblastomas[accessedResource: MSH:D005909][accessDate: 05-04-2011] Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH). Glial cell derived tumors arising from the optic nerve, usually presenting in childhood. Roughly 50% are associated with NEUROFIBROMATOSIS 1. Clinical manifestations include decreased visual acuity; EXOPHTHALMOS; NYSTAGMUS, PATHOLOGIC; STRABISMUS; pallor or swelling of the optic disc; and INTRACRANIAL HYPERTENSION. The tumor may extend into the optic chiasm and hypothalamus (MeSH).[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011] Glioblastoma Glioblastoma (morphologic abnormality) Glioblastoma (morphologic abnormality)[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011] Glioblastoma NOS (morphologic abnormality) Glioblastoma NOS (morphologic abnormality)[accessedResource: DOID:3068][accessDate: 05-04-2011] Glioblastoma, Giant Cell Glioblastoma, Giant Cell[accessedResource: MSH:D005909][accessDate: 05-04-2011] Glioblastoma, NOS Glioblastoma, NOS[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011] Glioblastoma, no ICD-O subtype Glioblastoma, no ICD-O subtype (morphologic abnormality) Glioblastoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011] Glioblastoma, no ICD-O subtype[accessedResource: SNOMEDCT:63634009][accessDate: 05-04-2011] Glioblastoma[accessedResource: NIFSTD:birnlex_12620][accessDate: 05-04-2011] Glioblastomas Glioblastomas, Giant Cell Glioblastomas, Giant Cell[accessedResource: MSH:D005909][accessDate: 05-04-2011] Glioblastomas[accessedResource: MSH:D005909][accessDate: 05-04-2011] Grade IV Astrocytic Neoplasm Grade IV Astrocytic Neoplasm[accessedResource: NCIt:C3058][accessDate: 05-04-2011] Grade IV Astrocytic Tumor Grade IV Astrocytic Tumor[accessedResource: NCIt:C3058][accessDate: 05-04-2011] Grade IV Astrocytoma Grade IV Astrocytomas Grade IV Astrocytomas[accessedResource: MSH:D005909][accessDate: 05-04-2011] James Malone MSH:D005909 Malignant Optic Nerve Astrocytoma Malignant Optic Nerve Astrocytoma[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011] NCIt:C3058 NIFSTD:birnlex_12620 NIFSTD:birnlex_12621 OMIM:137800 Optic Glioma Optic Glioma[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011] Optic Nerve Glioma Optic Nerve Glioma[accessedResource: NIFSTD:birnlex_12621][accessDate: 05-04-2011] SNOMEDCT:269506004 SNOMEDCT:63634009 Spongioblastoma Multiforme Spongioblastoma Multiforme[accessedResource: NCIt:C3058][accessDate: 05-04-2011] The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO) The most malignant astrocytic tumor (WHO grade IV). It is composed of poorly differentiated neoplastic astrocytes and it is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. It may develop from diffuse astrocytoma WHO grade II or anaplastic astrocytoma (secondary glioblastoma), but more frequently, it manifests after a short clinical history de novo, without evidence of a less malignant precursor lesion (primary glioblastoma). Two histologic variants are recognized: giant cell glioblastoma and gliosarcoma. (WHO)[accessedResource: NCIt:C3058][accessDate: 05-04-2011] Tomasz Adamusiak [M]Glioblastoma NOS [M]Glioblastoma NOS (morphologic abnormality) [M]Glioblastoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:269506004][accessDate: 05-04-2011] [M]Glioblastoma NOS[accessedResource: SNOMEDCT:269506004][accessDate: 05-04-2011] grade IV astrocytoma[accessedResource: NCIt:C3058][accessDate: 05-04-2011] obsolete_glioma 1.5 A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. DOID:2627 GeneRIF:11705870 GeneRIF:11716065 GeneRIF:11716067 GeneRIF:11716069 GeneRIF:11809417 GeneRIF:11836615 GeneRIF:11844831 GeneRIF:11856869 GeneRIF:11859970 GeneRIF:11913980 GeneRIF:11920587 GeneRIF:11930164 GeneRIF:11948808 GeneRIF:11949822 GeneRIF:12061725 GeneRIF:12084351 GeneRIF:12118245 GeneRIF:12125964 GeneRIF:12130632 GeneRIF:12133571 GeneRIF:12198774 GeneRIF:12231538 GeneRIF:12388547 GeneRIF:12388552 GeneRIF:12496285 GeneRIF:12507885 GeneRIF:12507886 GeneRIF:12509854 GeneRIF:12518988 GeneRIF:12545160 GeneRIF:12576462 GeneRIF:12600989 GeneRIF:12609716 GeneRIF:12629150 GeneRIF:12651623 GeneRIF:12651906 GeneRIF:12684632 GeneRIF:12698196 GeneRIF:12730958 GeneRIF:12735302 GeneRIF:12738994 GeneRIF:12764090 GeneRIF:12778072 GeneRIF:12783249 GeneRIF:12799382 GeneRIF:12810672 GeneRIF:12821932 GeneRIF:12843258 GeneRIF:12843260 GeneRIF:12850541 GeneRIF:12856717 GeneRIF:12881718 GeneRIF:12883693 GeneRIF:12907597 GeneRIF:12932816 GeneRIF:12957651 GeneRIF:12962281 GeneRIF:12963026 GeneRIF:13130092 GeneRIF:13130506 GeneRIF:14504888 GeneRIF:14530312 GeneRIF:14558597 GeneRIF:14597411 GeneRIF:14603470 GeneRIF:14633698 GeneRIF:14676120 GeneRIF:14705150 GeneRIF:14719118 GeneRIF:14991747 GeneRIF:14997014 GeneRIF:15015771 GeneRIF:15015772 GeneRIF:15041728 GeneRIF:15047712 GeneRIF:15056287 GeneRIF:15072448 GeneRIF:15088070 GeneRIF:15094455 GeneRIF:15123617 GeneRIF:15126357 GeneRIF:15138575 GeneRIF:15160992 GeneRIF:15161654 GeneRIF:15178645 GeneRIF:15184909 GeneRIF:15193433 GeneRIF:15198128 GeneRIF:15201971 GeneRIF:15201989 GeneRIF:15218947 GeneRIF:15254085 GeneRIF:15256062 GeneRIF:15269346 GeneRIF:15273738 GeneRIF:15332324 GeneRIF:15334059 GeneRIF:15361550 GeneRIF:15383564 GeneRIF:15451022 GeneRIF:15469737 GeneRIF:15469871 GeneRIF:15469933 GeneRIF:15509526 GeneRIF:15527101 GeneRIF:15531913 GeneRIF:15547763 GeneRIF:15557754 GeneRIF:15580288 GeneRIF:15580296 GeneRIF:15589840 GeneRIF:15592495 GeneRIF:15657358 GeneRIF:15671555 GeneRIF:15684595 GeneRIF:15696967 GeneRIF:15696973 GeneRIF:15737330 GeneRIF:15743799 GeneRIF:15774464 GeneRIF:15788675 GeneRIF:15791479 GeneRIF:15809742 GeneRIF:15812817 GeneRIF:15814461 GeneRIF:15816541 GeneRIF:15867349 GeneRIF:15867356 GeneRIF:15870690 GeneRIF:15882793 GeneRIF:15893739 GeneRIF:15915502 GeneRIF:15948146 GeneRIF:15958622 GeneRIF:15973152 GeneRIF:15989758 GeneRIF:16027728 GeneRIF:16033774 GeneRIF:16033775 GeneRIF:16049340 GeneRIF:16084492 GeneRIF:16092940 GeneRIF:16098466 GeneRIF:16215635 GeneRIF:16264179 GeneRIF:16304992 GeneRIF:16389900 GeneRIF:9109541 James Malone MSH:D005910 NCIt:C3059 Replaced with central nervous system cancer (EFO_0000326) SNOMEDCT:115240006 SNOMEDCT:189908003 SNOMEDCT:189926000 SNOMEDCT:74532006 true growth condition A role that a material entity can play which enables particular conditions used to grow organisms or parts of the organism. This includes isolated environments such as cultures and open environments such as field studies. GrowthCondition GrowthCondition[accessedResource: MO_183][accessDate: 05-04-2011] James Malone Jie Zheng MO_183 Tomasz Adamusiak head disease DOID:4149 James Malone The name of the pathology diagnosed in the organism from which the biomaterial was derived. The disease state is normal if no disease has been diagnosed. E.g Acute Lymphocytic Leukemia disorder of head (disorder) obsolete_hematological neoplasm 1.8 DOID:253 James Malone OntologyMappingImporter following DOID:253 Synonymous with lymphoid neoplasm EFO_0001642 - use instead. true obsolete_hemopoietic progenitor cell A stem cell from which all cells of the lymphoid and myeloid lineages develop, including blood cells and cells of the immune system. CL:0000037 James Malone true use EFO_0000527 hereditary spastic paraplegia A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8) A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)[accessedResource: MSH:D015419][accessDate: 05-04-2011] Autosomal Dominant Hereditary Spastic Paraplegia Autosomal Dominant Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] Autosomal Dominant Spastic Paraplegia Hereditary Autosomal Dominant Spastic Paraplegia Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] Autosomal Recessive Hereditary Spastic Paraplegia Autosomal Recessive Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] Autosomal Recessive Spastic Paraplegia, Hereditary Autosomal Recessive Spastic Paraplegia, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] DOID:2476 Familial spastic paraplegia syndrome Familial spastic paraplegia syndrome[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011] GeneRIF:11704932 GeneRIF:11898127 GeneRIF:12134148 GeneRIF:12161613 GeneRIF:12355402 GeneRIF:12490534 GeneRIF:15159500 GeneRIF:15248095 GeneRIF:15452312 GeneRIF:15667412 GeneRIF:15858810 GeneRIF:15939438 GeneRIF:16026783 HERED SPASTIC PARAPLEGIA HERED SPASTIC PARAPLEGIA[accessedResource: ICD9:334.1][accessDate: 05-04-2011] HMSN Type V HMSN Type V[accessedResource: MSH:D015419][accessDate: 05-04-2011] HMSN V HMSN V (Hereditary Motor and Sensory Neuropathy Type V) HMSN V (Hereditary Motor and Sensory Neuropathy Type V)[accessedResource: MSH:D015419][accessDate: 05-04-2011] HMSN V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011] HSMN V HSMN V[accessedResource: DOID:2476][accessDate: 05-04-2011] HSP - Hereditary spastic paraplegia HSP - Hereditary spastic paraplegia[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011] Hereditary Autosomal Dominant Spastic Paraplegia Hereditary Autosomal Dominant Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary Autosomal Recessive Spastic Paraplegia Hereditary Autosomal Recessive Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary Motor Sensory Neuropathy with Pyramidal Signs Hereditary Motor Sensory Neuropathy with Pyramidal Signs[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary Motor-Sensory Neuropathy with Pyramidal Signs Hereditary Motor-Sensory Neuropathy with Pyramidal Signs[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary Spastic Paraplegia, Autosomal Recessive Hereditary Spastic Paraplegia, Autosomal Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary Spastic Paraplegias Hereditary Spastic Paraplegias[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary X Linked Recessive Spastic Paraplegia Hereditary X Linked Recessive Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary X-Linked Recessive Spastic Paraplegia Hereditary X-Linked Recessive Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary motor and sensory neuropathy type V Hereditary motor and sensory neuropathy type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011] Hereditary motor and sensory neuropathy, type V Hereditary motor and sensory neuropathy, type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011] Hereditary sensory-motor neuropathy, type V Hereditary sensory-motor neuropathy, type V (disorder) Hereditary sensory-motor neuropathy, type V (disorder)[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011] Hereditary sensory-motor neuropathy, type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011] Hereditary spastic paraplegia (disorder) Hereditary spastic paraplegia (disorder)[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011] Hereditary, Spastic Paraplegia, Autosomal Dominant Hereditary, Spastic Paraplegia, Autosomal Dominant[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hereditary, Spastic Paraplegia, X-Linked Recessive Hereditary, Spastic Paraplegia, X-Linked Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia Hypertrophic Motor-Sensory Neuropathy-Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] ICD9:334.1 James Malone MSH:D015419 OMIM:600361 Paraplegia, Hereditary Spastic Paraplegia, Hereditary Spastic[accessedResource: MSH:D015419][accessDate: 05-04-2011] Paraplegia, Spastic, Hereditary Paraplegia, Spastic, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] Paraplegias, Hereditary Spastic Paraplegias, Hereditary Spastic[accessedResource: MSH:D015419][accessDate: 05-04-2011] SNOMEDCT:39912006 SNOMEDCT:76043009 Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia Hypertrophic Motor Sensory Neuropathy[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia, Autosomal Dominant, Hereditary Spastic Paraplegia, Autosomal Dominant, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia, Autosomal Recessive, Hereditary Spastic Paraplegia, Autosomal Recessive, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia, Hereditary Spastic Paraplegia, Hereditary, Autosomal Dominant Spastic Paraplegia, Hereditary, Autosomal Dominant[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia, Hereditary, Autosomal Recessive Spastic Paraplegia, Hereditary, Autosomal Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia, Hereditary, X-Linked Recessive Spastic Paraplegia, Hereditary, X-Linked Recessive[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia, X-Linked Recessive, Hereditary Spastic Paraplegia, X-Linked Recessive, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy Spastic Paraplegia-Hypertrophic Motor-Sensory Neuropathy[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic Paraplegias, Hereditary Spastic Paraplegias, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] Spastic congenital paraplegia Spastic congenital paraplegia[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011] Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V[accessedResource: SNOMEDCT:76043009][accessDate: 05-04-2011] Strumpell disease Strumpell disease[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011] Strumpell-Lorrain disease Strumpell-Lorrain disease[accessedResource: SNOMEDCT:39912006][accessDate: 05-04-2011] Tomasz Adamusiak Type V Hereditary Motor and Sensory Neuropathy Type V Hereditary Motor and Sensory Neuropathy[accessedResource: MSH:D015419][accessDate: 05-04-2011] Type V, HMSN Type V, HMSN[accessedResource: MSH:D015419][accessDate: 05-04-2011] X linked Recessive Hereditary Spastic Paraplegia X linked Recessive Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] X-Linked, Spastic Paraplegia, Hereditary X-Linked, Spastic Paraplegia, Hereditary[accessedResource: MSH:D015419][accessDate: 05-04-2011] X-linked Recessive Hereditary Spastic Paraplegia X-linked Recessive Hereditary Spastic Paraplegia[accessedResource: MSH:D015419][accessDate: 05-04-2011] spastic paraplegia spastic paraplegia[accessedResource: DOID:2476][accessDate: 05-04-2011] hippocampus A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion. A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.[accessedResource: BTO:0000601][accessDate: 05-04-2011] A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum. A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.[accessedResource: NIFSTD:birnlex_721][accessDate: 05-04-2011] Ammon's horn Ammon's horn[accessedResource: FMAID:62493][accessDate: 05-04-2011] BTO:0000601 CNS - Brain - Hippocampus (MMHCC) CNS - Brain - Hippocampus (MMHCC)[accessedResource: NCIt:C22615][accessDate: 05-04-2011] Cornu Ammonis[accessedResource: NIFSTD:birnlex_726][accessDate: 05-04-2011] Cornu ammonis EMAPA:19148 EV:0100180 FMAID:62493 Hippocampus major[accessedResource: FMAID:62493][accessDate: 05-04-2011] James Malone MA:0000191 MAT:0000114 MSH:D006624 NCIt:C22615 NIFSTD:birnlex_721 NIFSTD:birnlex_726 SAEL:51 Tomasz Adamusiak ammon horn ammon horn[accessedResource: NIFSTD:birnlex_721][accessDate: 05-04-2011] hippocampus major hippocampus proper hippocampus proper[accessedResource: NIFSTD:birnlex_721][accessDate: 05-04-2011] true host An animal or plant or part thereof that nourishes and supports a parasite either in a lab or natural environment. James Malone Jie Zheng MO_101 Tomasz Adamusiak obsolete_Huntington's disease A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4)[accessedResource: MSH:D006816][accessDate: 05-04-2011] A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea.[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011] AKINETIC RIGID VARIANT HUNTINGTON DIS AKINETIC RIGID VARIANT HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011] Akinetic Rigid Variant of Huntington Disease Akinetic Rigid Variant of Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] Akinetic-Rigid Variant of Huntington Disease Akinetic-Rigid Variant of Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] Chorea, Chronic Progressive Hereditary (Huntington) Chorea, Chronic Progressive Hereditary (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011] Chorea, Huntington Chorea, Huntington's Chorea, Huntington's[accessedResource: MSH:D006816][accessDate: 05-04-2011] Chorea, Huntington[accessedResource: MSH:D006816][accessDate: 05-04-2011] Chronic Progressive Hereditary Chorea (Huntington) Chronic Progressive Hereditary Chorea (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011] Chronic progressive chorea Chronic progressive chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011] Chronic progressive hereditary chorea Chronic progressive hereditary chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011] DOID:12858 GeneRIF:11432963 GeneRIF:11593450 GeneRIF:11813242 GeneRIF:11817536 GeneRIF:11914418 GeneRIF:12008025 GeneRIF:12078510 GeneRIF:12528814 GeneRIF:12531510 GeneRIF:12604778 GeneRIF:12614934 GeneRIF:12657678 GeneRIF:12682342 GeneRIF:12691731 GeneRIF:12706247 GeneRIF:12736330 GeneRIF:12781994 GeneRIF:12890790 GeneRIF:12915485 GeneRIF:12950446 GeneRIF:12952868 GeneRIF:12960759 GeneRIF:12969257 GeneRIF:14511117 GeneRIF:14522959 GeneRIF:14725621 GeneRIF:14751289 GeneRIF:14978262 GeneRIF:14981075 GeneRIF:14985389 GeneRIF:15009635 GeneRIF:15029481 GeneRIF:15033177 GeneRIF:15057517 GeneRIF:15167689 GeneRIF:15261377 GeneRIF:15337316 GeneRIF:15359012 GeneRIF:15383276 GeneRIF:15476444 GeneRIF:15496672 GeneRIF:15644269 GeneRIF:15715085 GeneRIF:15742215 GeneRIF:15749339 GeneRIF:15817265 GeneRIF:15843398 GeneRIF:15845076 GeneRIF:15878807 GeneRIF:15880743 GeneRIF:15922606 GeneRIF:15934928 GeneRIF:16054230 GeneRIF:16115812 GeneRIF:16184606 HC - Huntington chorea HC - Huntington chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011] HD HD - Huntington chorea HD - Huntington chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011] HD[accessedResource: DOID:12858][accessDate: 05-04-2011] HUNTINGTON DIS HUNTINGTON DIS AKINETIC RIGID VARIANT HUNTINGTON DIS AKINETIC RIGID VARIANT[accessedResource: MSH:D006816][accessDate: 05-04-2011] HUNTINGTON DIS JUVENILE HUNTINGTON DIS JUVENILE ONSET HUNTINGTON DIS JUVENILE ONSET[accessedResource: MSH:D006816][accessDate: 05-04-2011] HUNTINGTON DIS JUVENILE[accessedResource: MSH:D006816][accessDate: 05-04-2011] HUNTINGTON DIS LATE ONSET HUNTINGTON DIS LATE ONSET[accessedResource: MSH:D006816][accessDate: 05-04-2011] HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011] HUNTINGTONS DIS HUNTINGTONS DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Chorea Huntington Chronic Progressive Hereditary Chorea Huntington Chronic Progressive Hereditary Chorea[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011] Huntington Disease, Akinetic Rigid Variant Huntington Disease, Akinetic Rigid Variant[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Disease, Akinetic-Rigid Variant Huntington Disease, Akinetic-Rigid Variant[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Disease, Juvenile Huntington Disease, Juvenile Onset Huntington Disease, Juvenile Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Disease, Juvenile-Onset Huntington Disease, Juvenile-Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Disease, Juvenile[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Disease, Late Onset Huntington Disease, Late Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Disease, Late-Onset Huntington Disease, Late-Onset[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] Huntington chorea[accessedResource: SNOMEDCT:58756001][accessDate: 05-04-2011] Huntington disease Huntington's Huntington's Chorea Huntington's chorea (disorder) Huntington's chorea (disorder)[accessedResource: DOID:12858][accessDate: 05-04-2011] Huntington's chorea[accessedResource: DOID:12858][accessDate: 05-04-2011] Huntington's disease pathway Huntington's disease pathway[accessedResource: DOID:12858][accessDate: 05-04-2011] Huntington's[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011] Huntingtons disease Huntingtons disease[accessedResource: NIFSTD:birnlex_12500][accessDate: 05-04-2011] ICD9:333.4 JUVENILE HUNTINGTON DIS JUVENILE HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011] JUVENILE ONSET HUNTINGTON DIS JUVENILE ONSET HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011] James Malone Juvenile Huntington Disease Juvenile Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] Juvenile Onset Huntington Disease Juvenile Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] Juvenile-Onset Huntington Disease Juvenile-Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] LATE ONSET HUNTINGTON DIS LATE ONSET HUNTINGTON DIS[accessedResource: MSH:D006816][accessDate: 05-04-2011] Late Onset Huntington Disease Late Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] Late-Onset Huntington Disease Late-Onset Huntington Disease[accessedResource: MSH:D006816][accessDate: 05-04-2011] MSH:D006816 NIFSTD:birnlex_12500 OMIM:143100 Progressive Chorea, Chronic Hereditary (Huntington) Progressive Chorea, Chronic Hereditary (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011] Progressive Chorea, Hereditary, Chronic (Huntington) Progressive Chorea, Hereditary, Chronic (Huntington)[accessedResource: MSH:D006816][accessDate: 05-04-2011] SNOMEDCT:58756001 Tomasz Adamusiak 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_118' instead. New Label : Huntington disease hydrostatic pressure James Malone The pressure exerted by a liquid as a result of its potential energy, ignoring its kinetic energy. hyperglycemia Abnormally high BLOOD GLUCOSE level after a meal. Abnormally high BLOOD GLUCOSE level after a meal.[accessedResource: MSH:D006943][accessDate: 05-04-2011] Abnormally high BLOOD GLUCOSE level. Abnormally high BLOOD GLUCOSE level.[accessedResource: MSH:D006943][accessDate: 05-04-2011] DOID:4195 GeneRIF:11959624 GeneRIF:12107734 GeneRIF:12137596 GeneRIF:12149242 GeneRIF:12196481 GeneRIF:12376320 GeneRIF:12453975 GeneRIF:12464674 GeneRIF:12482638 GeneRIF:12522068 GeneRIF:12645629 GeneRIF:12655575 GeneRIF:12736712 GeneRIF:12759458 GeneRIF:12765965 GeneRIF:12819007 GeneRIF:12860835 GeneRIF:12963802 GeneRIF:14514642 GeneRIF:14534319 GeneRIF:14578285 GeneRIF:14673082 GeneRIF:14678947 GeneRIF:14698990 GeneRIF:14749287 GeneRIF:14751239 GeneRIF:14984315 GeneRIF:15010337 GeneRIF:15033467 GeneRIF:15148392 GeneRIF:15191885 GeneRIF:15259033 GeneRIF:15277392 GeneRIF:15486815 GeneRIF:15501243 GeneRIF:15561908 GeneRIF:15561954 GeneRIF:15616014 GeneRIF:15662550 GeneRIF:15677479 GeneRIF:15845625 GeneRIF:15848159 GeneRIF:15855318 GeneRIF:15868137 GeneRIF:15899886 GeneRIF:15899957 GeneRIF:15920055 GeneRIF:15956778 GeneRIF:15985479 GeneRIF:15993383 GeneRIF:16301823 Hyperglycaemia Hyperglycaemia, NOS Hyperglycaemia, NOS[accessedResource: SNOMEDCT:80394007][accessDate: 05-04-2011] Hyperglycemia (disorder)[accessedResource: SNOMEDCT:80394007][accessDate: 05-04-2011] Hyperglycemia, NOS Hyperglycemia, NOS[accessedResource: SNOMEDCT:80394007][accessDate: 05-04-2011] Hyperglycemia, Postprandial Hyperglycemia, Postprandial[accessedResource: MSH:D006943][accessDate: 05-04-2011] Hyperglycemias Hyperglycemias, Postprandial Hyperglycemias, Postprandial[accessedResource: MSH:D006943][accessDate: 05-04-2011] Hyperglycemias[accessedResource: MSH:D006943][accessDate: 05-04-2011] James Malone MSH:D006943 Postprandial Hyperglycemia Postprandial Hyperglycemia[accessedResource: MSH:D006943][accessDate: 05-04-2011] Postprandial Hyperglycemias Postprandial Hyperglycemias[accessedResource: MSH:D006943][accessDate: 05-04-2011] SNOMEDCT:315299009 SNOMEDCT:80394007 [D]Elevated blood glucose level [D]Elevated blood glucose level[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011] [D]Hyperglycaemia [D]Hyperglycaemia[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011] [D]Hyperglycemia [D]Hyperglycemia (context-dependent category) [D]Hyperglycemia (context-dependent category)[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011] [D]Hyperglycemia (situation) [D]Hyperglycemia (situation)[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011] [D]Hyperglycemia[accessedResource: SNOMEDCT:315299009][accessDate: 05-04-2011] hyperglycaemia[accessedResource: DOID:4195][accessDate: 05-04-2011] hyperglycemia (context-dependent category) hyperglycemia (context-dependent category)[accessedResource: DOID:4195][accessDate: 05-04-2011] hyperglycemia (disorder) hyperplasia An abnormal increase in the number of (otherwise normal) cells in an organ or a tissue with consequent enlargement. An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement. An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.[accessedResource: NCIt:C3113][accessDate: 05-04-2011] Hyperplastic Hyperplastic[accessedResource: NCIt:C3113][accessDate: 05-04-2011] James Malone NCIt:C3113 Tomasz Adamusiak hypertension (hypertensive disease) or (hypertension) Blood Pressure, High Blood Pressure, High[accessedResource: MSH:D006973][accessDate: 05-04-2011] Blood Pressures, High Blood Pressures, High[accessedResource: MSH:D006973][accessDate: 05-04-2011] DOID:10763 GeneRIF:11692154 GeneRIF:11792466 GeneRIF:11798846 GeneRIF:11799081 GeneRIF:11800057 GeneRIF:11803452 GeneRIF:11821707 GeneRIF:11833851 GeneRIF:11840488 GeneRIF:11849458 GeneRIF:11864924 GeneRIF:11872379 GeneRIF:11877320 GeneRIF:11880335 GeneRIF:11882590 GeneRIF:11882596 GeneRIF:11882615 GeneRIF:11903302 GeneRIF:11910303 GeneRIF:11924719 GeneRIF:11926353 GeneRIF:11952164 GeneRIF:11956157 GeneRIF:11976386 GeneRIF:11984003 GeneRIF:11986365 GeneRIF:11988231 GeneRIF:12011775 GeneRIF:12013496 GeneRIF:12021582 GeneRIF:12023056 GeneRIF:12023681 GeneRIF:12025958 GeneRIF:12030900 GeneRIF:12032592 GeneRIF:12050272 GeneRIF:12072411 GeneRIF:12105146 GeneRIF:12117726 GeneRIF:12122115 GeneRIF:12130711 GeneRIF:12133472 GeneRIF:12145290 GeneRIF:12165748 GeneRIF:12172320 GeneRIF:12181435 GeneRIF:12192616 GeneRIF:12213905 GeneRIF:12215464 GeneRIF:12215468 GeneRIF:12215473 GeneRIF:12217425 GeneRIF:12218313 GeneRIF:12244304 GeneRIF:12297007 GeneRIF:12359981 GeneRIF:12364355 GeneRIF:12372003 GeneRIF:12372791 GeneRIF:12388212 GeneRIF:12388782 GeneRIF:12390711 GeneRIF:12391843 GeneRIF:12397037 GeneRIF:12399948 GeneRIF:12419325 GeneRIF:12429553 GeneRIF:12429873 GeneRIF:12443993 GeneRIF:12446729 GeneRIF:12450315 GeneRIF:12452325 GeneRIF:12452334 GeneRIF:12457738 GeneRIF:12460053 GeneRIF:12468106 GeneRIF:12476421 GeneRIF:12480131 GeneRIF:12482634 GeneRIF:12484509 GeneRIF:12484512 GeneRIF:12484516 GeneRIF:12506509 GeneRIF:12511523 GeneRIF:12511547 GeneRIF:12515852 GeneRIF:12518270 GeneRIF:12529502 GeneRIF:12536339 GeneRIF:12540629 GeneRIF:12544440 GeneRIF:12566855 GeneRIF:12566941 GeneRIF:12566942 GeneRIF:12569260 GeneRIF:12574109 GeneRIF:12627873 GeneRIF:12639805 GeneRIF:12642508 GeneRIF:12644270 GeneRIF:12646192 GeneRIF:12648304 GeneRIF:12669427 GeneRIF:12670743 GeneRIF:12670745 GeneRIF:12677022 GeneRIF:12695524 GeneRIF:12706259 GeneRIF:12719438 GeneRIF:12729892 GeneRIF:12730030 GeneRIF:12732339 GeneRIF:12742250 GeneRIF:12746411 GeneRIF:12751759 GeneRIF:12754175 GeneRIF:12771048 GeneRIF:12775885 GeneRIF:12782219 GeneRIF:12817181 GeneRIF:12844513 GeneRIF:12860835 GeneRIF:12865163 GeneRIF:12867255 GeneRIF:12872043 GeneRIF:12878376 GeneRIF:12884521 GeneRIF:12891286 GeneRIF:12911547 GeneRIF:12924622 GeneRIF:12925562 GeneRIF:12950120 GeneRIF:12968128 GeneRIF:12975385 GeneRIF:13679998 GeneRIF:14499437 GeneRIF:14499940 GeneRIF:14506074 GeneRIF:14506400 GeneRIF:14514639 GeneRIF:14515335 GeneRIF:14515341 GeneRIF:14551242 GeneRIF:14553964 GeneRIF:14568996 GeneRIF:14573316 GeneRIF:14597849 GeneRIF:14604995 GeneRIF:14608379 GeneRIF:14616762 GeneRIF:14618677 GeneRIF:14620922 GeneRIF:14621188 GeneRIF:14621190 GeneRIF:14622117 GeneRIF:14633140 GeneRIF:14643573 GeneRIF:14653307 GeneRIF:14654758 GeneRIF:14688210 GeneRIF:14693679 GeneRIF:14697241 GeneRIF:14697676 GeneRIF:14698468 GeneRIF:14699441 GeneRIF:14701907 GeneRIF:14707164 GeneRIF:14718360 GeneRIF:14719182 GeneRIF:14736842 GeneRIF:14742306 GeneRIF:14744461 GeneRIF:14744462 GeneRIF:14744925 GeneRIF:14752100 GeneRIF:14871557 GeneRIF:14966368 GeneRIF:14967839 GeneRIF:14969735 GeneRIF:14970360 GeneRIF:14988405 GeneRIF:14993194 GeneRIF:15015152 GeneRIF:15020309 GeneRIF:15037565 GeneRIF:15042429 GeneRIF:15048641 GeneRIF:15050533 GeneRIF:15054141 GeneRIF:15055249 GeneRIF:15055253 GeneRIF:15059929 GeneRIF:15059935 GeneRIF:15075196 GeneRIF:15076153 GeneRIF:15076154 GeneRIF:15076188 GeneRIF:15076189 GeneRIF:15078565 GeneRIF:15097232 GeneRIF:15097233 GeneRIF:15100095 GeneRIF:15106800 GeneRIF:15110905 GeneRIF:15117826 GeneRIF:15121838 GeneRIF:15123570 GeneRIF:15126519 GeneRIF:15131114 GeneRIF:15136501 GeneRIF:15141213 GeneRIF:15146950 GeneRIF:15146952 GeneRIF:15146954 GeneRIF:15148501 GeneRIF:15162499 GeneRIF:15190056 GeneRIF:15193619 GeneRIF:15194301 GeneRIF:15195688 GeneRIF:15198480 GeneRIF:15201549 GeneRIF:15201550 GeneRIF:15233982 GeneRIF:15244100 GeneRIF:15253101 GeneRIF:15292344 GeneRIF:15302839 GeneRIF:15304560 GeneRIF:15311109 GeneRIF:15314687 GeneRIF:15316241 GeneRIF:15340103 GeneRIF:15340111 GeneRIF:15363817 GeneRIF:15451779 GeneRIF:15452029 GeneRIF:15452033 GeneRIF:15458945 GeneRIF:15469887 GeneRIF:15471983 GeneRIF:15475025 GeneRIF:15479166 GeneRIF:15480094 GeneRIF:15480095 GeneRIF:15480097 GeneRIF:15489962 GeneRIF:15492474 GeneRIF:15498966 GeneRIF:15498972 GeneRIF:15545843 GeneRIF:15554451 GeneRIF:15554460 GeneRIF:15563533 GeneRIF:15579504 GeneRIF:15583131 GeneRIF:15596575 GeneRIF:15598876 GeneRIF:15611369 GeneRIF:15613621 GeneRIF:15621007 GeneRIF:15638826 GeneRIF:15640278 GeneRIF:15643128 GeneRIF:15659047 GeneRIF:15662218 GeneRIF:15662219 GeneRIF:15671602 GeneRIF:15678704 GeneRIF:15699451 GeneRIF:15699473 GeneRIF:15716853 GeneRIF:15726642 GeneRIF:15726836 GeneRIF:15728438 GeneRIF:15737640 GeneRIF:15738346 GeneRIF:15738350 GeneRIF:15743788 GeneRIF:15746214 GeneRIF:15753233 GeneRIF:15756929 GeneRIF:15758045 GeneRIF:15766329 GeneRIF:15773229 GeneRIF:15775784 GeneRIF:15784171 GeneRIF:15797659 GeneRIF:15797740 GeneRIF:15809299 GeneRIF:15809359 GeneRIF:15809361 GeneRIF:15824199 GeneRIF:15824463 GeneRIF:15831362 GeneRIF:15831363 GeneRIF:15831367 GeneRIF:15837834 GeneRIF:15850776 GeneRIF:15864120 GeneRIF:15866055 GeneRIF:15886479 GeneRIF:15887114 GeneRIF:15890973 GeneRIF:15894833 GeneRIF:15896881 GeneRIF:15905889 GeneRIF:15908963 GeneRIF:15914769 GeneRIF:15920074 GeneRIF:15927846 GeneRIF:15928032 GeneRIF:15935077 GeneRIF:15942458 GeneRIF:15944206 GeneRIF:15950062 GeneRIF:15952872 GeneRIF:15956775 GeneRIF:15966738 GeneRIF:15967869 GeneRIF:15975728 GeneRIF:15993631 GeneRIF:15994241 GeneRIF:15996002 GeneRIF:16003175 GeneRIF:16012192 GeneRIF:16027245 GeneRIF:16037544 GeneRIF:16051894 GeneRIF:16091581 GeneRIF:16097364 GeneRIF:16103266 GeneRIF:16103269 GeneRIF:16115032 GeneRIF:16115038 GeneRIF:16115223 GeneRIF:16130282 GeneRIF:16132104 GeneRIF:16144986 GeneRIF:16144989 GeneRIF:16166162 GeneRIF:16172427 GeneRIF:16172428 GeneRIF:16203874 GeneRIF:16209130 GeneRIF:16216916 GeneRIF:16221215 GeneRIF:16230521 GeneRIF:16243970 GeneRIF:16280269 GeneRIF:16280279 GeneRIF:16286571 GeneRIF:16377929 HTN HTN - hypertension HTN[accessedResource: DOID:10763][accessDate: 05-04-2011] HYPERTENSIVE DISEASE HYPERTENSIVE DISEASE[accessedResource: ICD9:401-405.99][accessDate: 05-04-2011] High Blood Pressure High Blood Pressure[accessedResource: MSH:D006973][accessDate: 05-04-2011] High Blood Pressures High Blood Pressures[accessedResource: MSH:D006973][accessDate: 05-04-2011] High blood pressure (& [essential hypertension]) High blood pressure (& [essential hypertension])[accessedResource: DOID:10763][accessDate: 05-04-2011] Hypertensive disease (disorder) Hypertensive disease NOS (disorder) Hypertensive disease NOS (disorder)[accessedResource: SNOMEDCT:194794002][accessDate: 05-04-2011] Hypertensive disease NOS[accessedResource: SNOMEDCT:194794002][accessDate: 05-04-2011] ICD9:401-405.99 ICD9:997.91 James Malone MSH:D006973 Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more. Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.[accessedResource: MSH:D006973][accessDate: 05-04-2011] SNOMEDCT:194794002 SNOMEDCT:195537001 SURG COMP - HYPERTENSION SURG COMP - HYPERTENSION[accessedResource: ICD9:997.91][accessDate: 05-04-2011] [X]Hypertensive diseases [X]Hypertensive diseases (disorder) [X]Hypertensive diseases (disorder)[accessedResource: SNOMEDCT:195537001][accessDate: 05-04-2011] [X]Hypertensive diseases[accessedResource: SNOMEDCT:195537001][accessDate: 05-04-2011] hyperpiesia hyperpiesia[accessedResource: DOID:10763][accessDate: 05-04-2011] hypertension NOS hypertensive disease NOS true vascular hypertensive disorder vascular hypertensive disorder[accessedResource: DOID:10763][accessDate: 05-04-2011] hypertrophic cardiomyopathy A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract. A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.[accessedResource: NCIt:C34449][accessDate: 05-04-2011] A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY). A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).[accessedResource: MSH:D002312][accessDate: 05-04-2011] Asymmetric Septal Hypertrophies Asymmetric Septal Hypertrophies[accessedResource: MSH:D002312][accessDate: 05-04-2011] Asymmetric Septal Hypertrophy Asymmetric Septal Hypertrophy[accessedResource: MSH:D002312][accessDate: 05-04-2011] Cardiomyopathies, Hypertrophic Cardiomyopathies, Hypertrophic Obstructive Cardiomyopathies, Hypertrophic Obstructive[accessedResource: MSH:D002312][accessDate: 05-04-2011] Cardiomyopathies, Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011] Cardiomyopathy, Hypertrophic Obstructive Cardiomyopathy, Hypertrophic Obstructive[accessedResource: MSH:D002312][accessDate: 05-04-2011] Cardiomyopathy, hypertrophic Cardiomyopathy, hypertrophic[accessedResource: DOID:11984][accessDate: 05-04-2011] DOID:11984 GeneRIF:11853553 GeneRIF:11955864 GeneRIF:12110947 GeneRIF:12135130 GeneRIF:12169652 GeneRIF:12376254 GeneRIF:12386147 GeneRIF:12474143 GeneRIF:12538779 GeneRIF:12628722 GeneRIF:12642359 GeneRIF:12705874 GeneRIF:12754703 GeneRIF:12810613 GeneRIF:14645200 GeneRIF:15056834 GeneRIF:15118286 GeneRIF:15314809 GeneRIF:15317754 GeneRIF:15582318 GeneRIF:15673802 GeneRIF:15698845 GeneRIF:15737656 GeneRIF:15856146 GeneRIF:16004897 GeneRIF:16288990 HCM - Hypertrophic cardiomyopathy HCM - Hypertrophic cardiomyopathy[accessedResource: SNOMEDCT:233873004][accessDate: 05-04-2011] HOCM - Hypertrophic obstructive cardiomyopathy HOCM - Hypertrophic obstructive cardiomyopathy[accessedResource: SNOMEDCT:45227007][accessDate: 05-04-2011] HYPERTR OBSTR CARDIOMYOP HYPERTR OBSTR CARDIOMYOP[accessedResource: ICD9:425.1][accessDate: 05-04-2011] Hypertrophic Cardiomyopathies Hypertrophic Cardiomyopathies[accessedResource: MSH:D002312][accessDate: 05-04-2011] Hypertrophic Obstructive Cardiomyopathies Hypertrophic Obstructive Cardiomyopathies[accessedResource: MSH:D002312][accessDate: 05-04-2011] Hypertrophic Obstructive Cardiomyopathy Hypertrophic cardiomyopathy (disorder) Hypertrophic obstructive cardiomyopathy (disorder) Hypertrophies, Asymmetric Septal Hypertrophies, Asymmetric Septal[accessedResource: MSH:D002312][accessDate: 05-04-2011] Hypertrophy, Asymmetric Septal Hypertrophy, Asymmetric Septal[accessedResource: MSH:D002312][accessDate: 05-04-2011] ICD9:425.1 IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS[accessedResource: MSH:D002312][accessDate: 05-04-2011] IHSS IHSS[accessedResource: MSH:D002312][accessDate: 05-04-2011] IHSSs IHSSs[accessedResource: MSH:D002312][accessDate: 05-04-2011] Idiopathic Hypertrophic Subaortic Stenosis Idiopathic Hypertrophic Subaortic Stenosis[accessedResource: MSH:D002312][accessDate: 05-04-2011] Idiopathic Hypertrophic Subvalvular Stenosis Idiopathic Hypertrophic Subvalvular Stenosis[accessedResource: MSH:D002312][accessDate: 05-04-2011] James Malone MSH:D002312 NCIt:C34449 OMIM:192600 Obstructive Cardiomyopathies, Hypertrophic Obstructive Cardiomyopathies, Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011] Obstructive Cardiomyopathy, Hypertrophic Obstructive Cardiomyopathy, Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011] Obstructive cardiomyopathy Obstructive cardiomyopathy[accessedResource: SNOMEDCT:45227007][accessDate: 05-04-2011] Primary hypertrophic cardiomyopathy Primary hypertrophic cardiomyopathy[accessedResource: SNOMEDCT:233873004][accessDate: 05-04-2011] SNOMEDCT:233873004 SNOMEDCT:45227007 SUBVALV STENOSIS SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC SUBVALV STENOSIS IDIOPATHIC HYPERTROPHIC[accessedResource: MSH:D002312][accessDate: 05-04-2011] SUBVALV STENOSIS[accessedResource: MSH:D002312][accessDate: 05-04-2011] Septal Hypertrophies, Asymmetric Septal Hypertrophies, Asymmetric[accessedResource: MSH:D002312][accessDate: 05-04-2011] Septal Hypertrophy, Asymmetric Septal Hypertrophy, Asymmetric[accessedResource: MSH:D002312][accessDate: 05-04-2011] Subvalvular Stenosis, Idiopathic Hypertrophic Subvalvular Stenosis, Idiopathic Hypertrophic[accessedResource: MSH:D002312][accessDate: 05-04-2011] Tomasz Adamusiak hyper. obst. cardiomyopathy hyper. obst. cardiomyopathy[accessedResource: DOID:11984][accessDate: 05-04-2011] hypertrophic cardiomyopathy (disorder)[accessedResource: DOID:11984][accessDate: 05-04-2011] hypertrophic myocardiopathy hypertrophic myocardiopathy[accessedResource: DOID:11984][accessDate: 05-04-2011] hypertrophic obstructive cardiomyopathy (disorder)[accessedResource: DOID:11984][accessDate: 05-04-2011] hypertrophic obstructive cardiomyopathy[accessedResource: DOID:11984][accessDate: 05-04-2011] primary hypertrophic cardiomyopathy (disorder) [Ambiguous] primary hypertrophic cardiomyopathy (disorder) [Ambiguous][accessedResource: DOID:11984][accessDate: 05-04-2011] HCM immune system disease A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.) A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.)[accessedResource: NCIt:C27351][accessDate: 05-04-2011] AUTOIMMUNE DISEASE NEC AUTOIMMUNE DISEASE NEC[accessedResource: ICD9:279.4][accessDate: 05-04-2011] Autoimmune disease, not elsewhere classified Autoimmune disease, not elsewhere classified[accessedResource: ICD9:279.4][accessDate: 05-04-2011] DEFIC CELL IMMUNITY NOS DEFIC CELL IMMUNITY NOS[accessedResource: ICD9:279.19][accessDate: 05-04-2011] DOID:2914 Deficiency of cell-mediated immunity Deficiency of cell-mediated immunity[accessedResource: ICD9:279.1][accessDate: 05-04-2011] Disorder of the immune mechanism NOS Disorder of the immune mechanism NOS (disorder) Disorder of the immune mechanism NOS (disorder)[accessedResource: SNOMEDCT:191019003][accessDate: 05-04-2011] Disorder of the immune mechanism NOS[accessedResource: SNOMEDCT:191019003][accessDate: 05-04-2011] Disorders involving the immune mechanism Disorders involving the immune mechanism[accessedResource: ICD9:279][accessDate: 05-04-2011] ICD9:279 ICD9:279.1 ICD9:279.10 ICD9:279.19 ICD9:279.4 ICD9:279.8 ICD9:279.9 IMMUNDEF T-CELL DEF NOS IMMUNDEF T-CELL DEF NOS[accessedResource: ICD9:279.10][accessDate: 05-04-2011] IMMUNE MECHANISM DIS NEC IMMUNE MECHANISM DIS NEC[accessedResource: ICD9:279.8][accessDate: 05-04-2011] IMMUNE MECHANISM DIS NOS IMMUNE MECHANISM DIS NOS[accessedResource: ICD9:279.9][accessDate: 05-04-2011] Immune System and Related Disorders Immune System and Related Disorders[accessedResource: NCIt:C27351][accessDate: 05-04-2011] Immunodeficiency and Immunosuppression Disorders Immunodeficiency and Immunosuppression Disorders[accessedResource: NCIt:C27351][accessDate: 05-04-2011] Immunodeficiency with predominant T-cell defect, unspecified Immunodeficiency with predominant T-cell defect, unspecified[accessedResource: ICD9:279.10][accessDate: 05-04-2011] James Malone MSH:D001327 NCIt:C27351 OMIM:109100 Other deficiency of cell-mediated immunity Other deficiency of cell-mediated immunity[accessedResource: ICD9:279.19][accessDate: 05-04-2011] Other specified disorders involving the immune mechanism Other specified disorders involving the immune mechanism[accessedResource: ICD9:279.8][accessDate: 05-04-2011] Other specified disorders of the immune mechanism Other specified disorders of the immune mechanism (disorder) Other specified disorders of the immune mechanism (disorder)[accessedResource: SNOMEDCT:191017001][accessDate: 05-04-2011] Other specified disorders of the immune mechanism[accessedResource: SNOMEDCT:191017001][accessDate: 05-04-2011] SNOMEDCT:191017001 SNOMEDCT:191019003 SNOMEDCT:191035005 Tomasz Adamusiak Unspecified disorder of immune mechanism Unspecified disorder of immune mechanism[accessedResource: ICD9:279.9][accessDate: 05-04-2011] [X]Disorder involving the immune mechanism, unspecified [X]Disorder involving the immune mechanism, unspecified (disorder) [X]Disorder involving the immune mechanism, unspecified (disorder)[accessedResource: SNOMEDCT:191035005][accessDate: 05-04-2011] [X]Disorder involving the immune mechanism, unspecified[accessedResource: SNOMEDCT:191035005][accessDate: 05-04-2011] autoimmune diseases true immunoprecipitate James Malone The precipitate antibody bound target molecules generated when precipitating an antigen out of a solution during the process of immunoprecipitation. http://www.agrisera.com/en/info/igg.html individual An individual used a specimen in an experiment, from which a material sample was derived. James Malone obsolete_individual genetic characteristic The genotype of the individual organism from which the biomaterial was derived. Individual genetic characteristics include polymorphisms, disease alleles, and haplotypes. true infection James Malone The state of being infected such as from the introduction of a foreign agent such as serum, vaccine, antigenic substance or organism. infertility DOID:5223 GeneRIF:11352070 GeneRIF:11868623 GeneRIF:11870081 GeneRIF:11925379 GeneRIF:12042278 GeneRIF:12072412 GeneRIF:12086470 GeneRIF:12149515 GeneRIF:12297480 GeneRIF:12297552 GeneRIF:12479028 GeneRIF:12591952 GeneRIF:12606378 GeneRIF:12606444 GeneRIF:12648179 GeneRIF:12692150 GeneRIF:12773415 GeneRIF:12801998 GeneRIF:12811541 GeneRIF:12816981 GeneRIF:12818258 GeneRIF:12877256 GeneRIF:12900510 GeneRIF:12960071 GeneRIF:14511213 GeneRIF:14667896 GeneRIF:14673081 GeneRIF:14687743 GeneRIF:14978268 GeneRIF:15019807 GeneRIF:15044606 GeneRIF:15070774 GeneRIF:15070965 GeneRIF:15139971 GeneRIF:15166129 GeneRIF:15208629 GeneRIF:15220464 GeneRIF:15229204 GeneRIF:15340140 GeneRIF:15345679 GeneRIF:15474074 GeneRIF:15546993 GeneRIF:15569941 GeneRIF:15572448 GeneRIF:15659488 GeneRIF:15749517 GeneRIF:15811073 GeneRIF:15820792 GeneRIF:15820830 GeneRIF:15820831 GeneRIF:15890676 GeneRIF:15954500 GeneRIF:16048634 GeneRIF:16169419 GeneRIF:16295654 Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.[accessedResource: MSH:D007246][accessDate: 05-04-2011] Infertile Infertile (finding) Infertile (finding)[accessedResource: DOID:5223][accessDate: 05-04-2011] Infertile[accessedResource: DOID:5223][accessDate: 05-04-2011] James Malone MSH:D007246 Reproductive Sterility Reproductive Sterility[accessedResource: MSH:D007246][accessDate: 05-04-2011] Sterility Sterility, Reproductive Sterility, Reproductive[accessedResource: MSH:D007246][accessDate: 05-04-2011] Sterility[accessedResource: MSH:D007246][accessDate: 05-04-2011] sterile injury DOID:10429 Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity. Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity.[accessedResource: NCIt:C3671][accessDate: 05-04-2011] James Malone NCIt:C3671 Tomasz Adamusiak Trauma Trauma[accessedResource: NCIt:C3671][accessDate: 05-04-2011] Wound Wound[accessedResource: NCIt:C3671][accessDate: 05-04-2011] obsolete_inner cell mass Embryoblast Embryoblast[accessedResource: NCIt:C13740][accessDate: 05-04-2011] James Malone NCIt:C13740 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0000087 label: inner cell mass instrument An instrument is a device which provides a mechanical or electronic function. HardwareType HardwareType[accessedResource: MO_113][accessDate: 05-04-2011] Hardware[accessedResource: MO_134][accessDate: 05-04-2011] James Malone Jie Zheng MO_113 MO_134 OBI_0400003 Tomasz Adamusiak hardware true insulinoma A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA. A benign tumor of the PANCREATIC BETA CELLS. Insulinoma secretes excess INSULIN resulting in HYPOGLYCEMIA.[accessedResource: MSH:D007340][accessDate: 05-04-2011] A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin. A usually benign, well circumscribed neoplasm arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Adenoma, beta Cell Adenoma, beta Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011] Adenoma, beta-Cell Adenoma, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011] Adenomas, beta-Cell Adenomas, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011] Beta Cell Neoplasm Beta Cell Neoplasm of Pancreas Beta Cell Neoplasm of Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Beta Cell Neoplasm of the Pancreas Beta Cell Neoplasm of the Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Beta Cell Neoplasm[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Beta Cell Tumor Beta Cell Tumor of Pancreas Beta Cell Tumor of Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Beta Cell Tumor of the Pancreas Beta Cell Tumor of the Pancreas[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Beta cell adenoma Beta cell adenoma[accessedResource: SNOMEDCT:25324008][accessDate: 05-04-2011] DOID:3903 GeneRIF:11986368 GeneRIF:12417605 GeneRIF:12475221 GeneRIF:12688630 GeneRIF:14602773 GeneRIF:14656003 GeneRIF:15060136 Insulin-Producing Islet Cell Neoplasm Insulin-Producing Islet Cell Neoplasm[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Insulin-Producing Islet Cell Tumor Insulin-Producing Islet Cell Tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Insulin-Producing Neoplasm of Islet Cells Insulin-Producing Neoplasm of Islet Cells[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Insulin-Producing Neoplasm of the Islet Cells Insulin-Producing Neoplasm of the Islet Cells[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Insulin-Producing Tumor of Islet Cells Insulin-Producing Tumor of the Islet Cells Insulin-Producing Tumor of the Islet Cells[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Insulin-Producing tumor of Islet cells[accessedResource: DOID:3903][accessDate: 05-04-2011] Insulinoma (disorder) Insulinoma (disorder)[accessedResource: DOID:3903][accessDate: 05-04-2011] Insulinoma (morphologic abnormality) Insulinoma (morphologic abnormality)[accessedResource: SNOMEDCT:25324008][accessDate: 05-04-2011] Insulinoma NOS (morphologic abnormality) Insulinoma NOS (morphologic abnormality)[accessedResource: DOID:3903][accessDate: 05-04-2011] Insulinoma, NOS Insulinoma, NOS[accessedResource: SNOMEDCT:25324008][accessDate: 05-04-2011] Insulinomas Insulinomas[accessedResource: MSH:D007340][accessDate: 05-04-2011] Insuloma Insuloma[accessedResource: MSH:D007340][accessDate: 05-04-2011] Insulomas Insulomas[accessedResource: MSH:D007340][accessDate: 05-04-2011] James Malone MSH:D007340 NCIt:C3140 Pancreatic Beta Cell Tumor Pancreatic Beta Cell Tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Pancreatic Insulin Producing Neoplasm Pancreatic Insulin Producing Neoplasm[accessedResource: NCIt:C3140][accessDate: 05-04-2011] Pancreatic Insulin Producing Tumor Pancreatic Insulin Producing Tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011] SNOMEDCT:134154009 SNOMEDCT:25324008 SNOMEDCT:302822000 Tumor, beta-Cell Tumor, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011] Tumors, beta-Cell Tumors, beta-Cell[accessedResource: MSH:D007340][accessDate: 05-04-2011] [M]Insulinoma NOS [M]Insulinoma NOS (morphologic abnormality) [M]Insulinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:134154009][accessDate: 05-04-2011] [M]Insulinoma NOS[accessedResource: SNOMEDCT:134154009][accessDate: 05-04-2011] beta Cell Tumor[accessedResource: MSH:D007340][accessDate: 05-04-2011] beta-Cell Adenoma beta-Cell Adenoma[accessedResource: MSH:D007340][accessDate: 05-04-2011] beta-Cell Adenomas beta-Cell Adenomas[accessedResource: MSH:D007340][accessDate: 05-04-2011] beta-Cell Tumor beta-Cell Tumor[accessedResource: MSH:D007340][accessDate: 05-04-2011] beta-Cell Tumors beta-Cell Tumors[accessedResource: MSH:D007340][accessDate: 05-04-2011] pancreatic insulin-producing tumor pancreatic insulin-producing tumor[accessedResource: NCIt:C3140][accessDate: 05-04-2011] intracranial hemorrhage NOS A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis. A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.[accessedResource: DOID:1126][accessDate: 05-04-2011] Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces. Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces.[accessedResource: MSH:D020300][accessDate: 05-04-2011] Brain Hemorrhage Brain Hemorrhage[accessedResource: MSH:D020300][accessDate: 05-04-2011] Brain Hemorrhages Brain Hemorrhages[accessedResource: MSH:D020300][accessDate: 05-04-2011] Chlamydia trachomatis infectious disease Chlamydia trachomatis infectious disease[accessedResource: DOID:1126][accessDate: 05-04-2011] Chlamydial Infection Chlamydial Infection[accessedResource: DOID:1126][accessDate: 05-04-2011] DOID:1126 GeneRIF:15331795 HEMORRHAGE INTRACRANIAL Hemorrhage, Brain Hemorrhage, Brain[accessedResource: MSH:D020300][accessDate: 05-04-2011] Hemorrhage, Intracranial Hemorrhage, Intracranial[accessedResource: MSH:D020300][accessDate: 05-04-2011] Hemorrhage, Posterior Fossa Hemorrhage, Posterior Fossa[accessedResource: MSH:D020300][accessDate: 05-04-2011] Hemorrhages, Brain Hemorrhages, Brain[accessedResource: MSH:D020300][accessDate: 05-04-2011] Hemorrhages, Intracranial Hemorrhages, Intracranial[accessedResource: MSH:D020300][accessDate: 05-04-2011] Hemorrhages, Posterior Fossa Hemorrhages, Posterior Fossa[accessedResource: MSH:D020300][accessDate: 05-04-2011] ICD9:432.9 INTRACRANIAL HEMORR NOS INTRACRANIAL HEMORR NOS[accessedResource: ICD9:432.9][accessDate: 05-04-2011] Intracranial Hemorrhage Intracranial Hemorrhages Intracranial Hemorrhages[accessedResource: MSH:D020300][accessDate: 05-04-2011] Intracranial haemorrhage Intracranial haemorrhage NOS Intracranial haemorrhage NOS[accessedResource: SNOMEDCT:195178005][accessDate: 05-04-2011] Intracranial haemorrhage[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011] Intracranial hemorrhage (disorder) Intracranial hemorrhage (disorder)[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011] Intracranial hemorrhage NOS (disorder)[accessedResource: SNOMEDCT:195178005][accessDate: 05-04-2011] Intracranial hemorrhage, NOS Intracranial hemorrhage, NOS[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011] Intracranial hemorrhage[accessedResource: SNOMEDCT:1386000][accessDate: 05-04-2011] James Malone MSH:D020300 Posterior Fossa Hemorrhage Posterior Fossa Hemorrhage[accessedResource: MSH:D020300][accessDate: 05-04-2011] Posterior Fossa Hemorrhages Posterior Fossa Hemorrhages[accessedResource: MSH:D020300][accessDate: 05-04-2011] SNOMEDCT:1386000 SNOMEDCT:195178005 Unspecified intracranial hemorrhage Unspecified intracranial hemorrhage[accessedResource: ICD9:432.9][accessDate: 05-04-2011] chlamydial disease chlamydial disease[accessedResource: DOID:1126][accessDate: 05-04-2011] intracranial hemorrhage NOS (disorder) invasive ductal and lobular carcinoma An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive. An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.[accessedResource: NCIt:C7688][accessDate: 05-04-2011] DOID:6583 Infiltrating Ductal and Lobular Carcinoma[accessedResource: NCIt:C7688][accessDate: 05-04-2011] Infiltrating ductal and Lobular carcinoma Invasive Duct and Lobular Carcinoma Invasive Duct and Lobular Carcinoma[accessedResource: NCIt:C7688][accessDate: 05-04-2011] James Malone NCIt:C7688 invasive lobular carcinoma A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205) A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)[accessedResource: MSH:D018275][accessDate: 05-04-2011] An infiltrating lobular adenocarcinoma. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures. An infiltrating lobular adenocarcinoma. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Carcinoma, Lobular Carcinoma, Lobular[accessedResource: MSH:D018275][accessDate: 05-04-2011] Carcinomas, Lobular Carcinomas, Lobular[accessedResource: MSH:D018275][accessDate: 05-04-2011] Classic Invasive Lobular Carcinoma Classic Invasive Lobular Carcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011] DOID:3460 Infiltrating Lobular Adenocarcinoma Infiltrating Lobular Adenocarcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Infiltrating Lobular Breast Carcinoma Infiltrating Lobular Breast Carcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Infiltrating Lobular Carcinoma of Breast Infiltrating Lobular Carcinoma of Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Infiltrating Lobular Carcinoma of the Breast Infiltrating Lobular Carcinoma of the Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Invasive Lobular Adenocarcinoma Invasive Lobular Adenocarcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Invasive Lobular Breast Carcinoma Invasive Lobular Breast Carcinoma[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Invasive Lobular Carcinoma of Breast Invasive Lobular Carcinoma of Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Invasive Lobular Carcinoma of the Breast Invasive Lobular Carcinoma of the Breast[accessedResource: NCIt:C7950][accessDate: 05-04-2011] Invasive Lobular Carcinoma, Classic Type Invasive Lobular Carcinoma, Classic Type[accessedResource: NCIt:C7950][accessDate: 05-04-2011] James Malone Lobular Carcinoma Lobular Carcinoma[accessedResource: MSH:D018275][accessDate: 05-04-2011] Lobular Carcinomas Lobular Carcinomas[accessedResource: MSH:D018275][accessDate: 05-04-2011] MSH:D018275 NCIt:C7950 Tomasz Adamusiak infiltrating lobular carcinoma irradiate James Malone Jie Zheng MO_770 The process of treating a material with radiation Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#irradiate irritable bowel syndrome A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION. A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.[accessedResource: MSH:D043183][accessDate: 05-04-2011] A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause.[accessedResource: DOID:9778][accessDate: 05-04-2011] Adaptive colitis Adaptive colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Colitides, Mucous Colitides, Mucous[accessedResource: MSH:D043183][accessDate: 05-04-2011] Colitis, Mucous Colitis, Mucous[accessedResource: MSH:D043183][accessDate: 05-04-2011] Colon spasm Colon spasm[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Colon, Irritable Colon, Irritable[accessedResource: MSH:D043183][accessDate: 05-04-2011] DOID:9778 Functional bowel disease Functional bowel disease[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] GeneRIF:11877320 GeneRIF:15188158 GeneRIF:15232358 GeneRIF:15509739 GeneRIF:15633223 IBD IBD[accessedResource: DOID:9778][accessDate: 05-04-2011] IBS IBS - Irritable bowel syndrome IBS - Irritable bowel syndrome[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] IC - Irritable colon IC - Irritable colon[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] ICD9:564.1 Irritable Bowel Syndromes Irritable Bowel Syndromes[accessedResource: MSH:D043183][accessDate: 05-04-2011] Irritable Colon Irritable bowel Irritable bowel - IBS Irritable bowel[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Irritable colon (disorder) Irritable colon (disorder)[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Irritable colon - Irritable bowel syndrome Irritable colon syndrome Irritable colon syndrome[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Irritable colon[accessedResource: DOID:9778][accessDate: 05-04-2011] James Malone MSH:D043183 Membranous colitis Membranous colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Mucous Colitides Mucous Colitides[accessedResource: MSH:D043183][accessDate: 05-04-2011] Mucous Colitis[accessedResource: MSH:D043183][accessDate: 05-04-2011] Mucous colitis Nervous colitis Nervous colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Psychogenic IBS SNOMEDCT:10743008 Spastic colitis Spastic colitis[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Spastic colon Spastic colon[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] Syndrome, Irritable Bowel Syndrome, Irritable Bowel[accessedResource: MSH:D043183][accessDate: 05-04-2011] Syndromes, Irritable Bowel Syndromes, Irritable Bowel[accessedResource: MSH:D043183][accessDate: 05-04-2011] [X]Psychogenic IBS [X]Psychogenic IBS[accessedResource: SNOMEDCT:10743008][accessDate: 05-04-2011] ischemia A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION. A hypoperfusion of the BLOOD through an organ or tissue caused by a PATHOLOGIC CONSTRICTION or obstruction of its BLOOD VESSELS, or an absence of BLOOD CIRCULATION.[accessedResource: MSH:D007511][accessDate: 05-04-2011] DOID:326 GeneRIF:11756680 GeneRIF:11801667 GeneRIF:11822892 GeneRIF:11837786 GeneRIF:11854323 GeneRIF:11877468 GeneRIF:11919511 GeneRIF:11934832 GeneRIF:11945023 GeneRIF:12031847 GeneRIF:12031986 GeneRIF:12076861 GeneRIF:12078512 GeneRIF:12088756 GeneRIF:12099359 GeneRIF:12126535 GeneRIF:12130736 GeneRIF:12144846 GeneRIF:12145195 GeneRIF:12165407 GeneRIF:12172377 GeneRIF:12201360 GeneRIF:12207967 GeneRIF:12208351 GeneRIF:12210757 GeneRIF:12232802 GeneRIF:12352321 GeneRIF:12368657 GeneRIF:12384456 GeneRIF:12414116 GeneRIF:12415119 GeneRIF:12437588 GeneRIF:12453540 GeneRIF:12454802 GeneRIF:12468103 GeneRIF:12489796 GeneRIF:12490603 GeneRIF:12528815 GeneRIF:12529269 GeneRIF:12535945 GeneRIF:12538716 GeneRIF:12540780 GeneRIF:12577622 GeneRIF:12580450 GeneRIF:12593860 GeneRIF:12595498 GeneRIF:12598725 GeneRIF:12598732 GeneRIF:12600263 GeneRIF:12623065 GeneRIF:12645009 GeneRIF:12651615 GeneRIF:12657670 GeneRIF:12672549 GeneRIF:12699784 GeneRIF:12707035 GeneRIF:12709584 GeneRIF:12714332 GeneRIF:12716944 GeneRIF:12718435 GeneRIF:12730952 GeneRIF:12736150 GeneRIF:12746188 GeneRIF:12753927 GeneRIF:12766162 GeneRIF:12782295 GeneRIF:12805025 GeneRIF:12812761 GeneRIF:12813366 GeneRIF:12849738 GeneRIF:12860919 GeneRIF:12871572 GeneRIF:12883833 GeneRIF:12887688 GeneRIF:12897086 GeneRIF:12904478 GeneRIF:12923494 GeneRIF:12947324 GeneRIF:12950452 GeneRIF:12963035 GeneRIF:12969257 GeneRIF:12975460 GeneRIF:14500739 GeneRIF:14502288 GeneRIF:14507649 GeneRIF:14522822 GeneRIF:14568904 GeneRIF:14578604 GeneRIF:14583338 GeneRIF:14599979 GeneRIF:14615282 GeneRIF:14643014 GeneRIF:14670843 GeneRIF:14730711 GeneRIF:14732352 GeneRIF:14741413 GeneRIF:14747752 GeneRIF:14753415 GeneRIF:14757696 GeneRIF:14871559 GeneRIF:14965033 GeneRIF:14969349 GeneRIF:14983226 GeneRIF:14983993 GeneRIF:15001561 GeneRIF:15013953 GeneRIF:15017017 GeneRIF:15025939 GeneRIF:15030400 GeneRIF:15050129 GeneRIF:15059967 GeneRIF:15078802 GeneRIF:15081307 GeneRIF:15090052 GeneRIF:15105298 GeneRIF:15117851 GeneRIF:15142843 GeneRIF:15147523 GeneRIF:15173034 GeneRIF:15181368 GeneRIF:15206826 GeneRIF:15207275 GeneRIF:15223375 GeneRIF:15239105 GeneRIF:15241185 GeneRIF:15262323 GeneRIF:15262832 GeneRIF:15284219 GeneRIF:15306252 GeneRIF:15309411 GeneRIF:15309413 GeneRIF:15316036 GeneRIF:15316398 GeneRIF:15339931 GeneRIF:15345651 GeneRIF:15350969 GeneRIF:15358037 GeneRIF:15358666 GeneRIF:15362036 GeneRIF:15380477 GeneRIF:15474357 GeneRIF:15489954 GeneRIF:15502938 GeneRIF:15512786 GeneRIF:15518712 GeneRIF:15541008 GeneRIF:15543936 GeneRIF:15548426 GeneRIF:15561908 GeneRIF:15575898 GeneRIF:15579510 GeneRIF:15601946 GeneRIF:15611365 GeneRIF:15612529 GeneRIF:15613744 GeneRIF:15637314 GeneRIF:15653094 GeneRIF:15687494 GeneRIF:15723986 GeneRIF:15729291 GeneRIF:15734859 GeneRIF:15742404 GeneRIF:15752542 GeneRIF:15778274 GeneRIF:15790561 GeneRIF:15791006 GeneRIF:15804717 GeneRIF:15817274 GeneRIF:15818741 GeneRIF:15820254 GeneRIF:15829914 GeneRIF:15837573 GeneRIF:15845077 GeneRIF:15851594 GeneRIF:15854743 GeneRIF:15856211 GeneRIF:15867174 GeneRIF:15901600 GeneRIF:15953587 GeneRIF:15961228 GeneRIF:15994441 GeneRIF:16040592 GeneRIF:16052682 GeneRIF:16055264 GeneRIF:16077081 GeneRIF:16095866 GeneRIF:16100246 GeneRIF:16115445 GeneRIF:16127466 GeneRIF:16155108 GeneRIF:16166266 GeneRIF:16194580 GeneRIF:16284105 Ischaemia Ischaemia, NOS Ischaemia, NOS[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011] Ischaemia[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011] Ischemia (disorder) Ischemia (disorder)[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011] Ischemia, NOS Ischemia, NOS[accessedResource: SNOMEDCT:52674009][accessDate: 05-04-2011] Ischemias Ischemias[accessedResource: MSH:D007511][accessDate: 05-04-2011] James Malone MSH:D007511 SNOMEDCT:52674009 juvenile dermatomyositis A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6) A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)[accessedResource: MSH:D003882][accessDate: 05-04-2011] Adult Type Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Adult Type Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] Childhood Type Dermatomyositides Childhood Type Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Childhood Type Dermatomyositis Childhood type dermatomyositis (disorder)[accessedResource: SNOMEDCT:1212005][accessDate: 05-04-2011] Childhood type dermatomyositis[accessedResource: SNOMEDCT:1212005][accessDate: 05-04-2011] DOID:14203 Dermatomyositides, Adult Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositides, Childhood Type Dermatomyositides, Childhood Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositis, Adult Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositis, Childhood Type Dermatomyositis, Childhood Type[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatopolymyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Dermatopolymyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] GeneRIF:15338511 James Malone MSH:D003882 NCIt:C27576 Polymyositis Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] Polymyositis-Dermatomyositides[accessedResource: MSH:D003882][accessDate: 05-04-2011] Polymyositis-Dermatomyositis[accessedResource: MSH:D003882][accessDate: 05-04-2011] SNOMEDCT:1212005 childhood Dermatomyositis childhood Dermatomyositis[accessedResource: DOID:14203][accessDate: 05-04-2011] childhood type dermatomyositis (disorder) Kaposi's sarcoma A Human herpesvirus 8 infectious disease and is_a sarcoma that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8). A Human herpesvirus 8 infectious disease and is_a sarcoma that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8).[accessedResource: DOID:8632][accessDate: 05-04-2011] A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS). A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).[accessedResource: NCIt:C9087][accessDate: 05-04-2011] A sarcoma and Human herpesvirus 8 infectious disease that is transmitted_by human herpesvirus 8 (HHV8). A sarcoma and is_a Human herpesvirus 8 infectious disease that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_agent Human herpesvirus 8 (HHV8). A sarcoma that is caused by human herpesvirus 8 (HHV8), which is also called Kaposi's sarcoma-associated herpesvirus (KSHV). DOID:8632 Epidemic Kaposi's sarcoma Epidemic Kaposi's sarcoma[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011] GeneRIF:12176919 GeneRIF:12388718 GeneRIF:12388720 GeneRIF:12513914 GeneRIF:12531804 GeneRIF:12592400 GeneRIF:12719589 GeneRIF:12750160 GeneRIF:12875994 GeneRIF:12915577 GeneRIF:12915579 GeneRIF:14627715 GeneRIF:15194757 GeneRIF:15220403 GeneRIF:15246275 GeneRIF:15280476 GeneRIF:15331727 GeneRIF:15471957 GeneRIF:15765147 GeneRIF:15964376 GeneRIF:15994556 ICD9:176 ICD9:176.8 ICD9:176.9 James Malone KAPOSI'S SARCOMA NOS KAPOSI'S SARCOMA NOS[accessedResource: ICD9:176.9][accessDate: 05-04-2011] KS KS - Kaposi's sarcoma KS - Kaposi's sarcoma[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011] KS[accessedResource: NCIt:C9087][accessDate: 05-04-2011] Kaposi - Kaposi's Sarcoma Kaposi - Kaposi's Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011] Kaposi Sarcoma Kaposi sarcoma, morphology Kaposi sarcoma, morphology[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011] Kaposi sarcoma[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011] Kaposi's Sarcoma Kaposi's sarcoma (clinical) Kaposi's sarcoma (clinical)[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011] Kaposi's sarcoma (disorder) Kaposi's sarcoma (disorder)[accessedResource: SNOMEDCT:109385007][accessDate: 05-04-2011] Kaposi's sarcoma (morphologic abnormality) Kaposi's sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011] Kaposi's sarcoma, morphology Kaposi's sarcoma, morphology (morphologic abnormality) Kaposi's sarcoma, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011] Kaposi's sarcoma, morphology[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011] Kaposi's sarcoma, other specified sites Kaposi's sarcoma, other specified sites[accessedResource: ICD9:176.8][accessDate: 05-04-2011] Kaposi's sarcoma, unspecified Kaposi's sarcoma, unspecified[accessedResource: ICD9:176.9][accessDate: 05-04-2011] Kaposi's sarcoma-associated herpesvirus (KSHV) Multiple Hemorrhagic Sarcoma Multiple Hemorrhagic Sarcoma[accessedResource: NCIt:C9087][accessDate: 05-04-2011] Multiple haemorrhagic sarcoma Multiple haemorrhagic sarcoma[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011] NCIt:C9087 OMIM:148000 SNOMEDCT:109385007 SNOMEDCT:190112000 SNOMEDCT:49937004 SPF STS - KPSI'S SARCOMA SPF STS - KPSI'S SARCOMA[accessedResource: ICD9:176.8][accessDate: 05-04-2011] Tomasz Adamusiak [M]Kaposi's sarcoma [M]Kaposi's sarcoma[accessedResource: SNOMEDCT:49937004][accessDate: 05-04-2011] [X]Kaposi's sarcoma, unspecified [X]Kaposi's sarcoma, unspecified (disorder) [X]Kaposi's sarcoma, unspecified (disorder)[accessedResource: SNOMEDCT:190112000][accessDate: 05-04-2011] [X]Kaposi's sarcoma, unspecified[accessedResource: SNOMEDCT:190112000][accessDate: 05-04-2011] keratinizing squamous cell carcinoma DOID:5521 Epidermoid carcinoma, keratinising Epidermoid carcinoma, keratinising[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Epidermoid carcinoma, keratinizing Epidermoid carcinoma, keratinizing[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] James Malone Keratinising epidermoid carcinoma Keratinising epidermoid carcinoma[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Keratinising squamous cell carcinoma Keratinising squamous cell carcinoma - large cell Keratinising squamous cell carcinoma - large cell[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Keratinising squamous cell carcinoma[accessedResource: DOID:5521][accessDate: 05-04-2011] Keratinizing epidermoid carcinoma Keratinizing epidermoid carcinoma[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Keratinizing squamous cell carcinoma - large cell Keratinizing squamous cell carcinoma - large cell[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] NCIt:C4105 SNOMEDCT:18048008 Squamous cell carcinoma, keratinising Squamous cell carcinoma, keratinising[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Squamous cell carcinoma, keratinizing Squamous cell carcinoma, keratinizing (morphologic abnormality) Squamous cell carcinoma, keratinizing (morphologic abnormality)[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Squamous cell carcinoma, keratinizing, NOS Squamous cell carcinoma, keratinizing, NOS[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Squamous cell carcinoma, keratinizing[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Squamous cell carcinoma, large cell, keratinising Squamous cell carcinoma, large cell, keratinising[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Squamous cell carcinoma, large cell, keratinizing Squamous cell carcinoma, large cell, keratinizing[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] Squamous cell carcinomas with morphologically prominent production of keratin. Squamous cell carcinomas with morphologically prominent production of keratin.[accessedResource: NCIt:C4105][accessDate: 05-04-2011] [M]Squamous cell carcinoma, keratinising type NOS [M]Squamous cell carcinoma, keratinising type NOS[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] [M]Squamous cell carcinoma, keratinizing type NOS [M]Squamous cell carcinoma, keratinizing type NOS[accessedResource: SNOMEDCT:18048008][accessDate: 05-04-2011] knock in expression James Malone Knock in expression is a process in which a gene is replaced by an altered version of the same gene using homologous recombination resulting in a gain of function. labelling James Malone Jie Zheng MO_471 The process of marking a material in some way for experimental purposes. E.g. the labelling of a nucleic acid with biotin in a microarray experiment Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#labeling labeling labeling[accessedResource: MO_471][accessDate: 05-04-2011] large cell neuroendocrine carcinoma A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas. A usually aggressive carcinoma composed of large malignant cells which display neuroendocrine characteristics. It is characterized by the presence of high mitotic activity and necrotic changes. The vast majority of cases are positive for neuron-specific enolase. Representative examples include lung, breast, cervical, and thymic neuroendocrine carcinomas.[accessedResource: NCIt:C6875][accessDate: 05-04-2011] DOID:5721 GeneRIF:12605092 GeneRIF:12711118 James Malone Large cell neuroendocrine carcinoma (morphologic abnormality) NCIt:C6875 SNOMEDCT:128628002 large cell neuroendocrine carcinoma (morphologic abnormality)[accessedResource: DOID:5721][accessDate: 05-04-2011] large-cell neuroendocrine carcinoma large-cell neuroendocrine carcinoma[accessedResource: DOID:5721][accessDate: 05-04-2011] leiomyosarcoma A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. A malignant smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis.[accessedResource: DOID:1967][accessDate: 05-04-2011] A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865) A sarcoma containing large spindle cells of smooth muscle. Although it rarely occurs in soft tissue, it is common in the viscera. It is the most common soft tissue sarcoma of the gastrointestinal tract and uterus. The median age of patients is 60 years. (From Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1865)[accessedResource: MSH:D007890][accessDate: 05-04-2011] An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas. An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.[accessedResource: NCIt:C3158][accessDate: 05-04-2011] DOID:1967 Epithelioid Leiomyosarcoma Epithelioid Leiomyosarcoma[accessedResource: MSH:D007890][accessDate: 05-04-2011] Epithelioid Leiomyosarcomas Epithelioid Leiomyosarcomas[accessedResource: MSH:D007890][accessDate: 05-04-2011] GeneRIF:11759055 GeneRIF:12177782 GeneRIF:15024701 GeneRIF:15051038 GeneRIF:15051039 James Malone LMS - Leiomyosarcoma LMS - Leiomyosarcoma[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011] Leiomyomosarcoma, no subtype (morphologic abnormality) Leiomyomosarcoma, no subtype (morphologic abnormality)[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011] Leiomyosarcoma, Epithelioid Leiomyosarcoma, Epithelioid[accessedResource: MSH:D007890][accessDate: 05-04-2011] Leiomyosarcoma, Myxoid Leiomyosarcoma, Myxoid[accessedResource: MSH:D007890][accessDate: 05-04-2011] Leiomyosarcoma, NOS Leiomyosarcoma, NOS[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011] Leiomyosarcoma, no subtype Leiomyosarcoma, no subtype (morphologic abnormality) Leiomyosarcoma, no subtype (morphologic abnormality)[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011] Leiomyosarcoma, no subtype[accessedResource: SNOMEDCT:51549004][accessDate: 05-04-2011] Leiomyosarcomas Leiomyosarcomas, Epithelioid Leiomyosarcomas, Epithelioid[accessedResource: MSH:D007890][accessDate: 05-04-2011] Leiomyosarcomas, Myxoid Leiomyosarcomas, Myxoid[accessedResource: MSH:D007890][accessDate: 05-04-2011] Leiomyosarcomas[accessedResource: NCIt:C3158][accessDate: 05-04-2011] MSH:D007890 Myxoid Leiomyosarcoma Myxoid Leiomyosarcoma[accessedResource: MSH:D007890][accessDate: 05-04-2011] Myxoid Leiomyosarcomas Myxoid Leiomyosarcomas[accessedResource: MSH:D007890][accessDate: 05-04-2011] NCIt:C3158 OMIM:613488 SNOMEDCT:189790006 SNOMEDCT:51549004 Tomasz Adamusiak [M]Leiomyosarcoma NOS [M]Leiomyosarcoma NOS (morphologic abnormality) [M]Leiomyosarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189790006][accessDate: 05-04-2011] [M]Leiomyosarcoma NOS[accessedResource: SNOMEDCT:189790006][accessDate: 05-04-2011] leiomyosarcoma NOS (morphologic abnormality) leiomyosarcoma NOS (morphologic abnormality)[accessedResource: DOID:1967][accessDate: 05-04-2011] leukemia A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.[accessedResource: DOID:1240][accessDate: 05-04-2011] A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years. A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.[accessedResource: NCIt:C3161][accessDate: 05-04-2011] A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006) A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006)[accessedResource: MSH:D007938][accessDate: 05-04-2011] Aleukaemic leukaemia [obs] Aleukaemic leukaemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Aleukemic leukemia [obs] Aleukemic leukemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Blood (Leukemia) Blood (Leukemia)[accessedResource: NCIt:C3161][accessDate: 05-04-2011] Chronic leukaemia [obs] Chronic leukaemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Chronic leukemia [obs] Chronic leukemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] DOID:1240 GeneRIF:10437917 GeneRIF:11042511 GeneRIF:11489963 GeneRIF:11764099 GeneRIF:11792409 GeneRIF:11823049 GeneRIF:11830488 GeneRIF:11855785 GeneRIF:11856346 GeneRIF:11869944 GeneRIF:11893077 GeneRIF:11920534 GeneRIF:11922610 GeneRIF:11929767 GeneRIF:11937542 GeneRIF:11979742 GeneRIF:11986947 GeneRIF:11986949 GeneRIF:11996108 GeneRIF:11999550 GeneRIF:11999556 GeneRIF:12002276 GeneRIF:12002748 GeneRIF:12008082 GeneRIF:12082639 GeneRIF:12091340 GeneRIF:12096343 GeneRIF:12096925 GeneRIF:12127563 GeneRIF:12138900 GeneRIF:12139489 GeneRIF:12145702 GeneRIF:12145704 GeneRIF:12183458 GeneRIF:12186695 GeneRIF:12203795 GeneRIF:12204872 GeneRIF:12208881 GeneRIF:12217801 GeneRIF:12225794 GeneRIF:12239152 GeneRIF:12239155 GeneRIF:12384147 GeneRIF:12393620 GeneRIF:12393632 GeneRIF:12411326 GeneRIF:12414343 GeneRIF:12438221 GeneRIF:12454742 GeneRIF:12482966 GeneRIF:12496475 GeneRIF:12506112 GeneRIF:12511424 GeneRIF:12515866 GeneRIF:12533044 GeneRIF:12538698 GeneRIF:12553058 GeneRIF:12586625 GeneRIF:12592338 GeneRIF:12592353 GeneRIF:12613527 GeneRIF:12646947 GeneRIF:12648450 GeneRIF:12663445 GeneRIF:12665591 GeneRIF:12682273 GeneRIF:12682649 GeneRIF:12688322 GeneRIF:12700639 GeneRIF:12700665 GeneRIF:12705477 GeneRIF:12722639 GeneRIF:12773566 GeneRIF:12799277 GeneRIF:12816872 GeneRIF:12901974 GeneRIF:14512321 GeneRIF:14519654 GeneRIF:14521941 GeneRIF:14578205 GeneRIF:14607752 GeneRIF:14611815 GeneRIF:14615372 GeneRIF:14630792 GeneRIF:14662771 GeneRIF:14671643 GeneRIF:14689061 GeneRIF:14691303 GeneRIF:14704031 GeneRIF:14726393 GeneRIF:14737102 GeneRIF:14757439 GeneRIF:14988155 GeneRIF:14990976 GeneRIF:14996839 GeneRIF:15004329 GeneRIF:15026336 GeneRIF:15068389 GeneRIF:15070702 GeneRIF:15073036 GeneRIF:15144712 GeneRIF:15183893 GeneRIF:15187020 GeneRIF:15193261 GeneRIF:15199122 GeneRIF:15223639 GeneRIF:15298716 GeneRIF:15298960 GeneRIF:15304397 GeneRIF:15325703 GeneRIF:15351976 GeneRIF:15388576 GeneRIF:15454492 GeneRIF:15475071 GeneRIF:15475073 GeneRIF:15512811 GeneRIF:15515013 GeneRIF:15516987 GeneRIF:15541480 GeneRIF:15545599 GeneRIF:15567461 GeneRIF:15583855 GeneRIF:15585652 GeneRIF:15604256 GeneRIF:15611294 GeneRIF:15645140 GeneRIF:15674415 GeneRIF:15676214 GeneRIF:15687235 GeneRIF:15704129 GeneRIF:15705792 GeneRIF:15723065 GeneRIF:15723338 GeneRIF:15723339 GeneRIF:15725473 GeneRIF:15735695 GeneRIF:15744340 GeneRIF:15756419 GeneRIF:15815718 GeneRIF:15833859 GeneRIF:15834506 GeneRIF:15845894 GeneRIF:15856008 GeneRIF:15856017 GeneRIF:15860672 GeneRIF:15895983 GeneRIF:15959530 GeneRIF:15964800 GeneRIF:16002684 GeneRIF:16005964 GeneRIF:16081688 GeneRIF:16088313 GeneRIF:16103065 GeneRIF:16109713 GeneRIF:16130282 GeneRIF:16139274 GeneRIF:16179912 GeneRIF:16210627 GeneRIF:16271957 ICD9:207 ICD9:207.8 ICD9:207.80 ICD9:207.81 ICD9:208 ICD9:208.8 ICD9:208.80 ICD9:208.81 ICD9:208.9 ICD9:208.90 James Malone LEUK NOS W/O ACHV RMSN LEUK NOS W/O ACHV RMSN[accessedResource: ICD9:208.90][accessDate: 05-04-2011] LEUKEMIA NOS W/O REMSION Leukaemia Leukaemia NOS[accessedResource: SNOMEDCT:188767008][accessDate: 05-04-2011] Leukaemia morphology Leukaemia morphology[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukaemia of unspecified cell type Leukaemia of unspecified cell type[accessedResource: SNOMEDCT:188762002][accessDate: 05-04-2011] Leukaemia, NOS Leukaemia, NOS, without mention of remission Leukaemia, NOS, without mention of remission[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011] Leukaemia, NOS[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukaemia, disease Leukaemia, disease[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011] Leukaemia, no ICD-O subtype Leukaemia, no ICD-O subtype[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukaemia[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011] Leukemia NOS (disorder) Leukemia NOS (disorder)[accessedResource: SNOMEDCT:188767008][accessDate: 05-04-2011] Leukemia NOS[accessedResource: SNOMEDCT:188767008][accessDate: 05-04-2011] Leukemia morphology Leukemia morphology[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukemia of unspecified cell type Leukemia of unspecified cell type (disorder) Leukemia of unspecified cell type (disorder)[accessedResource: SNOMEDCT:188762002][accessDate: 05-04-2011] Leukemia of unspecified cell type[accessedResource: SNOMEDCT:188762002][accessDate: 05-04-2011] Leukemia, NOS, without mention of remission Leukemia, NOS, without mention of remission[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011] Leukemia, NOS[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukemia, disease Leukemia, disease (disorder) Leukemia, disease (disorder)[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011] Leukemia, disease[accessedResource: SNOMEDCT:93143009][accessDate: 05-04-2011] Leukemia, morphology (morphologic abnormality) Leukemia, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukemia, no ICD-O subtype Leukemia, no ICD-O subtype (morphologic abnormality) Leukemia, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukemia, no ICD-O subtype[accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Leukemias Leukemias, General Leukemias, General[accessedResource: NCIt:C3161][accessDate: 05-04-2011] Leukemias[accessedResource: MSH:D007938][accessDate: 05-04-2011] MSH:D007938 NCIt:C3161 OT LEU UN CL WO ACH RMSN OT LEU UN CL WO ACH RMSN[accessedResource: ICD9:208.80][accessDate: 05-04-2011] OTH LEUK UNS CL W RMSON OTH LEUK UNS CL W RMSON[accessedResource: ICD9:208.81][accessDate: 05-04-2011] OTH LEUK UNS CL W/O RMSN OTH LEUK W/O ACHV RMSN OTH LEUK W/O ACHV RMSN[accessedResource: ICD9:207.80][accessDate: 05-04-2011] OTH SPF LEUK W REMSION OTH SPF LEUK W REMSION[accessedResource: ICD9:207.81][accessDate: 05-04-2011] OTH SPF LEUK W/O REMSION Other leukaemia of unspecified cell type Other leukaemia of unspecified cell type[accessedResource: SNOMEDCT:188766004][accessDate: 05-04-2011] Other leukemia of unspecified cell type Other leukemia of unspecified cell type (disorder) Other leukemia of unspecified cell type (disorder)[accessedResource: SNOMEDCT:188766004][accessDate: 05-04-2011] Other leukemia of unspecified cell type in remission Other leukemia of unspecified cell type in remission[accessedResource: ICD9:208.81][accessDate: 05-04-2011] Other leukemia of unspecified cell type without mention of having achieved remission Other leukemia of unspecified cell type without mention of having achieved remission[accessedResource: ICD9:208.80][accessDate: 05-04-2011] Other leukemia of unspecified cell type without mention of remission Other leukemia of unspecified cell type[accessedResource: ICD9:208.8][accessDate: 05-04-2011] Other specified leukaemia Other specified leukaemia NOS Other specified leukaemia NOS[accessedResource: SNOMEDCT:188761009][accessDate: 05-04-2011] Other specified leukaemia[accessedResource: SNOMEDCT:188751002][accessDate: 05-04-2011] Other specified leukemia Other specified leukemia (disorder) Other specified leukemia (disorder)[accessedResource: SNOMEDCT:188751002][accessDate: 05-04-2011] Other specified leukemia NOS Other specified leukemia NOS (disorder) Other specified leukemia NOS (disorder)[accessedResource: SNOMEDCT:188761009][accessDate: 05-04-2011] Other specified leukemia NOS[accessedResource: SNOMEDCT:188761009][accessDate: 05-04-2011] Other specified leukemia in remission Other specified leukemia in remission[accessedResource: ICD9:207.81][accessDate: 05-04-2011] Other specified leukemia without mention of having achieved remission Other specified leukemia without mention of having achieved remission[accessedResource: ICD9:207.80][accessDate: 05-04-2011] Other specified leukemia without mention of remission Other specified leukemia[accessedResource: ICD9:207][accessDate: 05-04-2011] SNOMEDCT:188751002 SNOMEDCT:188761009 SNOMEDCT:188762002 SNOMEDCT:188766004 SNOMEDCT:188767008 SNOMEDCT:190024009 SNOMEDCT:190025005 SNOMEDCT:190029004 SNOMEDCT:190161003 SNOMEDCT:190162005 SNOMEDCT:87163000 SNOMEDCT:93143009 Subacute leukaemia [obs] Subacute leukaemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] Subacute leukemia [obs] Subacute leukemia [obs][accessedResource: SNOMEDCT:87163000][accessDate: 05-04-2011] This is potentially too broad as well as overlaps with lymphoma and should be obsoleted. Tomasz Adamusiak Unspecified leukemia Unspecified leukemia without mention of having achieved remission Unspecified leukemia without mention of having achieved remission[accessedResource: ICD9:208.90][accessDate: 05-04-2011] Unspecified leukemia without mention of remission Unspecified leukemia[accessedResource: ICD9:208.9][accessDate: 05-04-2011] [M]Leukaemia NOS [M]Leukaemia NOS[accessedResource: SNOMEDCT:190025005][accessDate: 05-04-2011] [M]Leukaemia unspecified, NOS [M]Leukaemia unspecified, NOS[accessedResource: SNOMEDCT:190029004][accessDate: 05-04-2011] [M]Leukaemias unspecified [M]Leukaemias unspecified[accessedResource: SNOMEDCT:190024009][accessDate: 05-04-2011] [M]Leukemia NOS [M]Leukemia NOS[accessedResource: SNOMEDCT:190025005][accessDate: 05-04-2011] [M]Leukemia unspecified, NOS [M]Leukemia unspecified, NOS[accessedResource: SNOMEDCT:190029004][accessDate: 05-04-2011] [M]Leukemias unspecified [M]Leukemias unspecified[accessedResource: SNOMEDCT:190024009][accessDate: 05-04-2011] [M]leukemia NOS (morphologic abnormality) [M]leukemia NOS (morphologic abnormality)[accessedResource: SNOMEDCT:190025005][accessDate: 05-04-2011] [M]leukemia unspecified, NOS (morphologic abnormality) [M]leukemia unspecified, NOS (morphologic abnormality)[accessedResource: SNOMEDCT:190029004][accessDate: 05-04-2011] [M]leukemias unspecified (morphologic abnormality) [M]leukemias unspecified (morphologic abnormality)[accessedResource: SNOMEDCT:190024009][accessDate: 05-04-2011] [X]Other leukaemia of unspecified cell type[accessedResource: SNOMEDCT:190162005][accessDate: 05-04-2011] [X]Other leukemia of unspecified cell type (disorder)[accessedResource: SNOMEDCT:190162005][accessDate: 05-04-2011] [X]Other leukemia of unspecified cell type[accessedResource: SNOMEDCT:190162005][accessDate: 05-04-2011] [X]Other specified leukaemias[accessedResource: SNOMEDCT:190161003][accessDate: 05-04-2011] [X]Other specified leukemias (disorder)[accessedResource: SNOMEDCT:190161003][accessDate: 05-04-2011] [X]Other specified leukemias[accessedResource: SNOMEDCT:190161003][accessDate: 05-04-2011] chronic leukaemia NOS chronic leukemia chronic leukemia - category (morphologic abnormality) chronic leukemia NOS chronic leukemia NOS (disorder) chronic leukemia of unspecified cell type chronic leukemia, disease (disorder) light James Malone Jie Zheng MO_60 The photoperiod and type (e.g., natural, restricted wavelength) of light exposure. Tomasz Adamusiak liposarcoma A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum. A malignant lipomatous neoplasm that arises in fat cells in deep soft tissue retroperitoneum.[accessedResource: DOID:3382][accessDate: 05-04-2011] A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed) A malignant tumor derived from primitive or embryonal lipoblastic cells. It may be composed of well-differentiated fat cells or may be dedifferentiated: myxoid (LIPOSARCOMA, MYXOID), round-celled, or pleomorphic, usually in association with a rich network of capillaries. Recurrences are common and dedifferentiated liposarcomas metastasize to the lungs or serosal surfaces. (From Dorland, 27th ed; Stedman, 25th ed)[accessedResource: MSH:D008080][accessDate: 05-04-2011] A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors. A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Representative morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid/round cell liposarcoma. The metastatic potential is higher in less differentiated tumors.[accessedResource: NCIt:C3194][accessDate: 05-04-2011] DOID:3382 Dedifferentiated Liposarcoma[accessedResource: MSH:D008080][accessDate: 05-04-2011] Dedifferentiated Liposarcomas[accessedResource: MSH:D008080][accessDate: 05-04-2011] Fibroliposarcoma Fibroliposarcoma[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011] GeneRIF:14989736 GeneRIF:15149855 GeneRIF:15201968 James Malone Liposarcoma (disorder) Liposarcoma (disorder)[accessedResource: DOID:3382][accessDate: 05-04-2011] Liposarcoma (morphologic abnormality) Liposarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011] Liposarcoma NOS (morphologic abnormality) Liposarcoma NOS (morphologic abnormality)[accessedResource: DOID:3382][accessDate: 05-04-2011] Liposarcoma morphology Liposarcoma morphology[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011] Liposarcoma, Dedifferentiated[accessedResource: MSH:D008080][accessDate: 05-04-2011] Liposarcoma, NOS Liposarcoma, NOS[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011] Liposarcoma, Pleomorphic[accessedResource: MSH:D008080][accessDate: 05-04-2011] Liposarcoma, no ICD-O subtype Liposarcoma, no ICD-O subtype (morphologic abnormality) Liposarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011] Liposarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:49430005][accessDate: 05-04-2011] Liposarcomas Liposarcomas, Dedifferentiated[accessedResource: MSH:D008080][accessDate: 05-04-2011] Liposarcomas, Pleomorphic[accessedResource: MSH:D008080][accessDate: 05-04-2011] Liposarcomas[accessedResource: MSH:D008080][accessDate: 05-04-2011] MSH:D008080 NCIt:C3194 Pleomorphic Liposarcoma[accessedResource: MSH:D008080][accessDate: 05-04-2011] Pleomorphic Liposarcomas[accessedResource: MSH:D008080][accessDate: 05-04-2011] SNOMEDCT:189777004 SNOMEDCT:254829001 SNOMEDCT:49430005 Tomasz Adamusiak [M]Liposarcoma NOS [M]Liposarcoma NOS (morphologic abnormality) [M]Liposarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189777004][accessDate: 05-04-2011] [M]Liposarcoma NOS[accessedResource: SNOMEDCT:189777004][accessDate: 05-04-2011] obsolete_lobular breast carcinoma 1.5 A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205) An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal. DOID:3457 Duplicate with invasive lobular carcinoma (EFO_0000553) GeneRIF:12661036 GeneRIF:12907138 GeneRIF:15695379 GeneRIF:15803365 James Malone MSH:D018275 NCIt:C3771 SNOMEDCT:189713007 SNOMEDCT:278054005 SNOMEDCT:89740008 true lung adenocarcinoma A carcinoma characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. A carcinoma characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.[accessedResource: NCIt:C3512][accessDate: 05-04-2011] Adenocarcinoma of Lung Adenocarcinoma of Lung[accessedResource: NCIt:C3512][accessDate: 05-04-2011] Adenocarcinoma of lung (disorder)[accessedResource: SNOMEDCT:254626006][accessDate: 05-04-2011] Adenocarcinoma of the Lung Adenocarcinoma of the Lung[accessedResource: NCIt:C3512][accessDate: 05-04-2011] DOID:3910 GeneRIF:11801602 GeneRIF:11836605 GeneRIF:11891209 GeneRIF:11957142 GeneRIF:12114441 GeneRIF:12152160 GeneRIF:12163326 GeneRIF:12164330 GeneRIF:12234996 GeneRIF:12374671 GeneRIF:12414512 GeneRIF:12420220 GeneRIF:12503077 GeneRIF:12579497 GeneRIF:12644570 GeneRIF:12687616 GeneRIF:12698189 GeneRIF:12824892 GeneRIF:12883699 GeneRIF:12918063 GeneRIF:12923324 GeneRIF:12942568 GeneRIF:14511407 GeneRIF:14607333 GeneRIF:14633739 GeneRIF:14634100 GeneRIF:14735190 GeneRIF:14744769 GeneRIF:14996858 GeneRIF:15197584 GeneRIF:15216431 GeneRIF:15660698 GeneRIF:15688187 GeneRIF:15709189 GeneRIF:15809747 GeneRIF:15815931 GeneRIF:15819721 GeneRIF:15943786 GeneRIF:15944787 GeneRIF:15976377 GeneRIF:16061866 GeneRIF:16108829 GeneRIF:16109772 GeneRIF:16116610 GeneRIF:16184720 GeneRIF:16232198 GeneRIF:8564085 James Malone NCIt:C3512 OMIM:211980 SNOMEDCT:254626006 Tomasz Adamusiak adenocarcinoma of lung (disorder) true lymphoblast An immature lymphocyte that has enlarged in response to antigenic stimulation. An immature lymphocyte that has enlarged in response to antigenic stimulation.[accessedResource: NCIt:C13013][accessDate: 05-04-2011] BTO:0000772 James Malone NCIt:C13013 Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes. Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes.[accessedResource: BTO:0000772][accessDate: 05-04-2011] lymphoblastic lymphoblastic[accessedResource: NCIt:C13013][accessDate: 05-04-2011] lymphoma A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. A general term for various neoplastic diseases of the lymphoid tissue. A general term for various neoplastic diseases of the lymphoid tissue.[accessedResource: MSH:D008223][accessDate: 05-04-2011] A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas. A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.[accessedResource: NCIt:C3208][accessDate: 05-04-2011] Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease. Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.[accessedResource: MSH:D008228][accessDate: 05-04-2011] DIFFUSE MIXED LYMPHOMA DIFFUSE MIXED LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011] DIFFUSE MIXED SMALL LARGE LYMPHOMA DIFFUSE MIXED SMALL LARGE LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011] DIFFUSE SMALL CLEAVED LYMPHOMA DIFFUSE SMALL CLEAVED LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011] DIFFUSE UNDIFFER LYMPHOMA DIFFUSE UNDIFFER LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011] DOID:353 Diffuse Lymphoma Diffuse Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Lymphomas Diffuse Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Mixed Cell Lymphoma Diffuse Mixed Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Mixed Small and Large Cell Lymphoma Diffuse Mixed Small and Large Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Mixed-Cell Lymphoma Diffuse Mixed-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Mixed-Cell Lymphomas Diffuse Mixed-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Small Cleaved Cell Lymphoma Diffuse Small Cleaved Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Small Cleaved-Cell Lymphoma Diffuse Small Cleaved-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Undifferentiated Lymphoma Diffuse Undifferentiated Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Diffuse Undifferentiated Lymphomas Diffuse Undifferentiated Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] GeneRIF:11720250 GeneRIF:11751994 GeneRIF:11836626 GeneRIF:11866986 GeneRIF:11869933 GeneRIF:11920179 GeneRIF:11932403 GeneRIF:11937265 GeneRIF:11985791 GeneRIF:11999550 GeneRIF:12048235 GeneRIF:12082638 GeneRIF:12145697 GeneRIF:12149433 GeneRIF:12208847 GeneRIF:12217802 GeneRIF:12218099 GeneRIF:12351407 GeneRIF:12393693 GeneRIF:12438221 GeneRIF:12469325 GeneRIF:12496417 GeneRIF:12532332 GeneRIF:12532453 GeneRIF:12539045 GeneRIF:12549480 GeneRIF:12555065 GeneRIF:12567186 GeneRIF:12569164 GeneRIF:12579309 GeneRIF:12604405 GeneRIF:12682649 GeneRIF:12688322 GeneRIF:12721791 GeneRIF:12807718 GeneRIF:12884297 GeneRIF:12897143 GeneRIF:12915884 GeneRIF:12967477 GeneRIF:14612522 GeneRIF:14654791 GeneRIF:14662861 GeneRIF:14666612 GeneRIF:14691303 GeneRIF:14702288 GeneRIF:14724650 GeneRIF:14767575 GeneRIF:14998493 GeneRIF:15121848 GeneRIF:15126346 GeneRIF:15133473 GeneRIF:15160902 GeneRIF:15215324 GeneRIF:15223017 GeneRIF:15226424 GeneRIF:15263076 GeneRIF:15265020 GeneRIF:15325703 GeneRIF:15356104 GeneRIF:15467748 GeneRIF:15474489 GeneRIF:15516976 GeneRIF:15522957 GeneRIF:15551285 GeneRIF:15562971 GeneRIF:15569983 GeneRIF:15640350 GeneRIF:15649253 GeneRIF:15668399 GeneRIF:15677569 GeneRIF:15692060 GeneRIF:15705798 GeneRIF:15713979 GeneRIF:15716988 GeneRIF:15735694 GeneRIF:15743832 GeneRIF:15744340 GeneRIF:15762053 GeneRIF:15889157 GeneRIF:15890690 GeneRIF:15902285 GeneRIF:15940251 GeneRIF:15985538 GeneRIF:16108830 GeneRIF:16194892 GeneRIF:16201318 GeneRIF:16277027 Germinoblastic Sarcoma Germinoblastic Sarcoma[accessedResource: MSH:D008223][accessDate: 05-04-2011] Germinoblastic Sarcomas Germinoblastic Sarcomas[accessedResource: MSH:D008223][accessDate: 05-04-2011] Germinoblastoma Germinoblastoma[accessedResource: MSH:D008223][accessDate: 05-04-2011] Germinoblastomas Germinoblastomas[accessedResource: MSH:D008223][accessDate: 05-04-2011] High-Grade Lymphoma High-Grade Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] High-Grade Lymphomas High-Grade Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Intermediate-Grade Lymphoma Intermediate-Grade Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Intermediate-Grade Lymphomas Intermediate-Grade Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] James Malone LYMPHOMA DIFFUSE MIXED LYMPHOCYTIC HISTIOCYTIC LYMPHOMA DIFFUSE MIXED LYMPHOCYTIC HISTIOCYTIC[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA MIXED LYMPHOMA MIXED DIFFUSE LYMPHOMA MIXED DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA MIXED SMALL LARGE DIFFUSE LYMPHOMA MIXED SMALL LARGE DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA MIXED[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA SMALL CLEAVED DIFFUSE LYMPHOMA SMALL CLEAVED DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA SMALL LARGE CLEAVED DIFFUSE LYMPHOMA SMALL LARGE CLEAVED DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA SMALL NON CLEAVED LYMPHOMA SMALL NON CLEAVED[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA SMALL NONCLEAVED LYMPHOMA SMALL NONCLEAVED[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA UNDIFFER LYMPHOMA UNDIFFER DIFFUSE LYMPHOMA UNDIFFER DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] LYMPHOMA UNDIFFER[accessedResource: MSH:D008228][accessDate: 05-04-2011] Low-Grade Lymphoma Low-Grade Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Low-Grade Lymphomas Low-Grade Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphatic Sarcoma Lymphatic Sarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphatic Sarcomas Lymphatic Sarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphocytic-Histiocytic Lymphoma, Mixed Lymphocytic-Histiocytic Lymphoma, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphocytic-Histiocytic Lymphomas, Mixed Lymphocytic-Histiocytic Lymphomas, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma (Hodgkin and Non-Hodgkin) Lymphoma (Hodgkin and Non-Hodgkin)[accessedResource: NCIt:C3208][accessDate: 05-04-2011] Lymphoma (Hodgkin's and Non-Hodgkin's) Lymphoma (Hodgkin's and Non-Hodgkin's)[accessedResource: NCIt:C3208][accessDate: 05-04-2011] Lymphoma (Non-Hodgkin) Lymphoma (clinical) Lymphoma (clinical)[accessedResource: SNOMEDCT:118600007][accessDate: 05-04-2011] Lymphoma, Atypical Diffuse Small Lymphoid Lymphoma, Atypical Diffuse Small Lymphoid[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Diffuse Lymphoma, Diffuse Mixed-Cell Lymphoma, Diffuse Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Diffuse Undifferentiated Lymphoma, Diffuse Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, High Grade Lymphoma, High Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, High-Grade Lymphoma, High-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Intermediate Grade Lymphoma, Intermediate Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Intermediate-Grade Lymphoma, Intermediate-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Low Grade Lymphoma, Low Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Low-Grade Lymphoma, Low-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Malignant Lymphoma, Malignant[accessedResource: MSH:D008223][accessDate: 05-04-2011] Lymphoma, Mixed Lymphoma, Mixed Cell Lymphoma, Mixed Cell, Diffuse Lymphoma, Mixed Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Mixed Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Mixed Lymphocytic Histiocytic Lymphoma, Mixed Lymphocytic Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Mixed Lymphocytic-Histiocytic Lymphoma, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Mixed Small and Large Cell, Diffuse Lymphoma, Mixed Small and Large Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Mixed-Cell Lymphoma, Mixed-Cell, Diffuse Lymphoma, Mixed-Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, NOS Lymphoma, NOS[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011] Lymphoma, Non Hodgkin Lymphoma, Non Hodgkin's Lymphoma, Non Hodgkin's[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Non Hodgkin[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Non Hodgkins Lymphoma, Non Hodgkins[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Non-Hodgkin Lymphoma, Non-Hodgkin's Lymphoma, Non-Hodgkin's[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Non-Hodgkin[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Non-Hodgkins Lymphoma, Non-Hodgkins[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Nonhodgkin Lymphoma, Nonhodgkin's Lymphoma, Nonhodgkin's[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Nonhodgkin[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Nonhodgkins Lymphoma, Nonhodgkins[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Pleomorphic Lymphoma, Pleomorphic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Small Cleaved Cell, Diffuse Lymphoma, Small Cleaved Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Small Cleaved-Cell, Diffuse Lymphoma, Small Cleaved-Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Small Non Cleaved Cell Lymphoma, Small Non Cleaved Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Small Non-Cleaved-Cell Lymphoma, Small Non-Cleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Small Noncleaved Cell Lymphoma, Small Noncleaved Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Small Noncleaved-Cell Lymphoma, Small Noncleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Small and Large Cleaved-Cell, Diffuse Lymphoma, Small and Large Cleaved-Cell, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Undifferentiated Lymphoma, Undifferentiated, Diffuse Lymphoma, Undifferentiated, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphoma, Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas Lymphomas, Diffuse Lymphomas, Diffuse Mixed-Cell Lymphomas, Diffuse Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Diffuse Undifferentiated Lymphomas, Diffuse Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, High-Grade Lymphomas, High-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Intermediate-Grade Lymphomas, Intermediate-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Low-Grade Lymphomas, Low-Grade[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Malignant Lymphomas, Malignant[accessedResource: MSH:D008223][accessDate: 05-04-2011] Lymphomas, Mixed Lymphomas, Mixed Lymphocytic-Histiocytic Lymphomas, Mixed Lymphocytic-Histiocytic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Mixed-Cell Lymphomas, Mixed-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Mixed[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Pleomorphic Lymphomas, Pleomorphic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Small Non-Cleaved-Cell Lymphomas, Small Non-Cleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Small Noncleaved-Cell Lymphomas, Small Noncleaved-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas, Undifferentiated Lymphomas, Undifferentiated[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphomas[accessedResource: MSH:D008223][accessDate: 05-04-2011] Lymphosarcoma Lymphosarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Lymphosarcomas Lymphosarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] MIXED LYMPHOMA DIFFUSE MIXED LYMPHOMA DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] MIXED SMALL LARGE LYMPHOMA DIFFUSE MIXED SMALL LARGE LYMPHOMA DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] MSH:D008223 MSH:D008228 Malignant Lymphoma Malignant Lymphomas Malignant Lymphomas[accessedResource: MSH:D008223][accessDate: 05-04-2011] Malignant lymphoma (clinical) Malignant lymphoma (clinical)[accessedResource: SNOMEDCT:118600007][accessDate: 05-04-2011] Malignant lymphoma (disorder) Malignant lymphoma (disorder)[accessedResource: SNOMEDCT:118600007][accessDate: 05-04-2011] Malignant lymphoma NOS Malignant lymphoma NOS (disorder) Malignant lymphoma NOS (disorder)[accessedResource: SNOMEDCT:188694002][accessDate: 05-04-2011] Malignant lymphoma NOS of unspecified site Malignant lymphoma NOS of unspecified site (disorder) Malignant lymphoma NOS of unspecified site (disorder)[accessedResource: SNOMEDCT:188695001][accessDate: 05-04-2011] Malignant lymphoma NOS of unspecified site[accessedResource: SNOMEDCT:188695001][accessDate: 05-04-2011] Malignant lymphoma NOS[accessedResource: SNOMEDCT:188694002][accessDate: 05-04-2011] Malignant lymphoma, NOS Malignant lymphoma, NOS[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011] Malignant lymphoma, no ICD-O subtype Malignant lymphoma, no ICD-O subtype (morphologic abnormality) Malignant lymphoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011] Malignant lymphoma, no ICD-O subtype[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011] Malignant lymphoma[accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011] Microglioma [obs] Microglioma [obs][accessedResource: SNOMEDCT:21964009][accessDate: 05-04-2011] Mixed Cell Lymphoma Mixed Cell Lymphoma, Diffuse Mixed Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed Lymphocytic-Histiocytic Lymphoma Mixed Lymphocytic-Histiocytic Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed Lymphocytic-Histiocytic Lymphomas Mixed Lymphocytic-Histiocytic Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed Lymphoma Mixed Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed Lymphomas Mixed Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed Small and Large Cell Lymphoma, Diffuse Mixed Small and Large Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed-Cell Lymphoma Mixed-Cell Lymphoma, Diffuse Mixed-Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed-Cell Lymphomas Mixed-Cell Lymphomas, Diffuse Mixed-Cell Lymphomas, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Mixed-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] NCIt:C3208 NONHODGKIN LYMPHOMA NONHODGKIN LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011] Non Hodgkin Lymphoma Non Hodgkin Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Non Hodgkin's Lymphoma Non Hodgkin's Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Non-Cleaved-Cell Lymphoma, Small Non-Cleaved-Cell Lymphoma, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011] Non-Cleaved-Cell Lymphomas, Small Non-Cleaved-Cell Lymphomas, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Non-Hodgkin's Lymphoma Non-Hodgkin's Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Non-Hodgkins Lymphoma Non-Hodgkins Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Noncleaved-Cell Lymphoma, Small Noncleaved-Cell Lymphoma, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011] Noncleaved-Cell Lymphomas, Small Noncleaved-Cell Lymphomas, Small[accessedResource: MSH:D008228][accessDate: 05-04-2011] Nonhodgkin's Lymphoma Nonhodgkin's Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Nonhodgkins Lymphoma Nonhodgkins Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Pleomorphic Lymphoma Pleomorphic Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Pleomorphic Lymphomas Pleomorphic Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Reticulolymphosarcoma Reticulolymphosarcoma NOS Reticulolymphosarcoma[accessedResource: MSH:D008223][accessDate: 05-04-2011] Reticulolymphosarcomas Reticulolymphosarcomas[accessedResource: MSH:D008223][accessDate: 05-04-2011] Reticulosarcoma Reticulosarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Reticulosarcomas Reticulosarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Reticulum Cell Sarcoma Reticulum Cell Sarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Reticulum-Cell Sarcoma Reticulum-Cell Sarcoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Reticulum-Cell Sarcomas Reticulum-Cell Sarcomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] SMALL CLEAVED LYMPHOMA DIFFUSE SMALL CLEAVED LYMPHOMA DIFFUSE[accessedResource: MSH:D008228][accessDate: 05-04-2011] SMALL NON CLEAVED LYMPHOMA SMALL NON CLEAVED LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011] SNOMEDCT:118600007 SNOMEDCT:188694002 SNOMEDCT:188695001 SNOMEDCT:21964009 Sarcoma, Germinoblastic Sarcoma, Germinoblastic[accessedResource: MSH:D008223][accessDate: 05-04-2011] Sarcoma, Lymphatic Sarcoma, Lymphatic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Sarcoma, Reticulum Cell Sarcoma, Reticulum Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Sarcoma, Reticulum-Cell Sarcoma, Reticulum-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Sarcomas, Germinoblastic Sarcomas, Germinoblastic[accessedResource: MSH:D008223][accessDate: 05-04-2011] Sarcomas, Lymphatic Sarcomas, Lymphatic[accessedResource: MSH:D008228][accessDate: 05-04-2011] Sarcomas, Reticulum-Cell Sarcomas, Reticulum-Cell[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Cleaved Cell Lymphoma, Diffuse Small Cleaved Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Cleaved-Cell Lymphoma, Diffuse Small Cleaved-Cell Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Non Cleaved Cell Lymphoma Small Non Cleaved Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Non-Cleaved-Cell Lymphoma Small Non-Cleaved-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Non-Cleaved-Cell Lymphomas Small Non-Cleaved-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Noncleaved Cell Lymphoma Small Noncleaved Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Noncleaved-Cell Lymphoma Small Noncleaved-Cell Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Small Noncleaved-Cell Lymphomas Small Noncleaved-Cell Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] This is potentially too broad as well as overlaps with leukemia and should be obsoleted. Tomasz Adamusiak UNDIFFER LYMPHOMA UNDIFFER LYMPHOMA[accessedResource: MSH:D008228][accessDate: 05-04-2011] Undifferentiated Lymphoma Undifferentiated Lymphoma, Diffuse Undifferentiated Lymphoma, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Undifferentiated Lymphoma[accessedResource: MSH:D008228][accessDate: 05-04-2011] Undifferentiated Lymphomas Undifferentiated Lymphomas, Diffuse Undifferentiated Lymphomas, Diffuse[accessedResource: MSH:D008228][accessDate: 05-04-2011] Undifferentiated Lymphomas[accessedResource: MSH:D008228][accessDate: 05-04-2011] chronic wasting disease chronic wasting disease[accessedResource: DOID:353][accessDate: 05-04-2011] obsolete_material type Controlled terms for the state of the BioMaterial. Each state (BioSource, different BioSamples, and LabeledExtract) have MaterialTypes. Examples are population of an organism, organism, organism part, cell population of an organism, organism, organism part, cell redundant now and is synonymous to material entity true media James Malone Jie Zheng MO_545 The physical state or matrix used to provide nutrients to the organism (e.g., liquid, agar, soil). Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#media liquid, agar, soil probably a role medullary breast carcinoma An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent. An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for fewer than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.[accessedResource: NCIt:C9119][accessDate: 05-04-2011] DOID:5605 Infiltrating Medullary Carcinoma of Breast Infiltrating Medullary Carcinoma of Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011] Infiltrating Medullary Carcinoma of the Breast Infiltrating Medullary Carcinoma of the Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011] Invasive Medullary Breast Carcinoma Invasive Medullary Breast Carcinoma[accessedResource: NCIt:C9119][accessDate: 05-04-2011] Invasive Medullary Carcinoma of Breast Invasive Medullary Carcinoma of Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011] Invasive Medullary Carcinoma of the Breast Invasive Medullary Carcinoma of the Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011] James Malone Medullary Carcinoma of Breast Medullary Carcinoma of Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011] Medullary Carcinoma of the Breast Medullary Carcinoma of the Breast[accessedResource: NCIt:C9119][accessDate: 05-04-2011] Medullary breast carcinoma with lymphoid Stroma Medullary breast carcinoma with lymphoid Stroma[accessedResource: DOID:5605][accessDate: 05-04-2011] NCIt:C9119 breast medullary carcinoma breast medullary carcinoma[accessedResource: DOID:5605][accessDate: 05-04-2011] meningitis infection A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord. A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.[accessedResource: NCIt:C26828][accessDate: 05-04-2011] DOID:9471 GeneRIF:11821235 GeneRIF:12198614 GeneRIF:12707352 GeneRIF:15449178 ICD9:322 ICD9:322.9 Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6) Inflammation of the coverings of the brain and/or spinal cord, which consist of the PIA MATER; ARACHNOID; and DURA MATER. Infections (viral, bacterial, and fungal) are the most common causes of this condition, but subarachnoid hemorrhage (HEMORRHAGES, SUBARACHNOID), chemical irritation (chemical MENINGITIS), granulomatous conditions, neoplastic conditions (CARCINOMATOUS MENINGITIS), and other inflammatory conditions may produce this syndrome. (From Joynt, Clinical Neurology, 1994, Ch24, p6)[accessedResource: MSH:D008581][accessDate: 05-04-2011] James Malone MENINGITIS NOS MENINGITIS NOS[accessedResource: ICD9:322.9][accessDate: 05-04-2011] MSH:D008581 Meningitides Meningitides[accessedResource: MSH:D008581][accessDate: 05-04-2011] Meningitis (disorder) Meningitis (disorder)[accessedResource: SNOMEDCT:7180009][accessDate: 05-04-2011] Meningitis is a nervous system infection characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents. Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.[accessedResource: DOID:9471][accessDate: 05-04-2011] Meningitis of unspecified cause Meningitis of unspecified cause (disorder) Meningitis of unspecified cause (disorder)[accessedResource: SNOMEDCT:192678004][accessDate: 05-04-2011] Meningitis of unspecified cause[accessedResource: ICD9:322][accessDate: 05-04-2011] Meningitis, NOS Meningitis, NOS[accessedResource: SNOMEDCT:7180009][accessDate: 05-04-2011] Meningitis, unspecified Meningitis, unspecified[accessedResource: ICD9:322.9][accessDate: 05-04-2011] NCIt:C26828 Pachymeningitides Pachymeningitides[accessedResource: MSH:D008581][accessDate: 05-04-2011] Pachymeningitis Pachymeningitis[accessedResource: MSH:D008581][accessDate: 05-04-2011] SNOMEDCT:192678004 SNOMEDCT:192681009 SNOMEDCT:7180009 Unspecified meningitis Unspecified meningitis (disorder) Unspecified meningitis (disorder)[accessedResource: SNOMEDCT:192681009][accessDate: 05-04-2011] Unspecified meningitis[accessedResource: SNOMEDCT:192681009][accessDate: 05-04-2011] meningitis due to organism mesenchymal stem cell James Malone NCIt:C43423 conditioned mesenchymal stem cell mesothelioma A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed) A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)[accessedResource: MSH:D008654][accessDate: 05-04-2011] A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos. A usually malignant and aggressive neoplasm of the mesothelium which is often associated with exposure to asbestos.[accessedResource: NCIt:C3234][accessDate: 05-04-2011] DOID:2645 GeneRIF:12082024 GeneRIF:12082623 GeneRIF:12839939 GeneRIF:14576363 GeneRIF:14729617 GeneRIF:14960305 GeneRIF:15334061 GeneRIF:15705870 GeneRIF:15777968 GeneRIF:15900580 GeneRIF:15996160 James Malone MSH:D008654 Malignant mesothelioma Malignant mesothelioma[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011] Mesothelioma, NOS Mesothelioma, NOS[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011] Mesothelioma, malignant Mesothelioma, malignant (morphologic abnormality) Mesothelioma, malignant (morphologic abnormality)[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011] Mesothelioma, malignant[accessedResource: SNOMEDCT:62064005][accessDate: 05-04-2011] Mesothelioma, unspecified (disorder) Mesothelioma, unspecified (disorder)[accessedResource: DOID:2645][accessDate: 05-04-2011] Mesothelioma, unspecified (morphologic abnormality) Mesothelioma, unspecified (morphologic abnormality)[accessedResource: DOID:2645][accessDate: 05-04-2011] Mesotheliomas Mesotheliomas[accessedResource: MSH:D008654][accessDate: 05-04-2011] NCIt:C3234 OMIM:156240 SNOMEDCT:189837000 SNOMEDCT:190110008 SNOMEDCT:62064005 Tomasz Adamusiak [M]Mesothelioma, unspecified [M]Mesothelioma, unspecified (morphologic abnormality) [M]Mesothelioma, unspecified (morphologic abnormality)[accessedResource: SNOMEDCT:189837000][accessDate: 05-04-2011] [M]Mesothelioma, unspecified[accessedResource: SNOMEDCT:189837000][accessDate: 05-04-2011] [X]Mesothelioma, unspecified [X]Mesothelioma, unspecified (disorder) [X]Mesothelioma, unspecified (disorder)[accessedResource: SNOMEDCT:190110008][accessDate: 05-04-2011] [X]Mesothelioma, unspecified[accessedResource: SNOMEDCT:190110008][accessDate: 05-04-2011] metabolic disease A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003 A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003[accessedResource: NCIt:C3235][accessDate: 05-04-2011] A disease that involving errors in metabolic processes. A disease that involving errors in metabolic processes.[accessedResource: DOID:0014667][accessDate: 05-04-2011] DIS METAB DIS METAB[accessedResource: MSH:D008659][accessDate: 05-04-2011] DOID:0014667 Disease, Metabolic Disease, Metabolic[accessedResource: MSH:D008659][accessDate: 05-04-2011] Diseases, Metabolic Diseases, Metabolic[accessedResource: MSH:D008659][accessDate: 05-04-2011] Disorder of metabolism NOS Disorder of metabolism NOS (disorder) Disorder of metabolism NOS (disorder)[accessedResource: SNOMEDCT:267456000][accessDate: 05-04-2011] Disorder of metabolism NOS[accessedResource: SNOMEDCT:267456000][accessDate: 05-04-2011] GeneRIF:12093894 GeneRIF:12215968 GeneRIF:12242462 GeneRIF:12707035 GeneRIF:12815182 GeneRIF:12824951 GeneRIF:14592951 GeneRIF:15231871 GeneRIF:15246202 GeneRIF:15277400 GeneRIF:15677734 GeneRIF:16018179 Generalised metabolic disorder Generalised metabolic disorder[accessedResource: SNOMEDCT:30390004][accessDate: 05-04-2011] Generalized metabolic disorder Generalized metabolic disorder (disorder) Generalized metabolic disorder (disorder)[accessedResource: SNOMEDCT:30390004][accessDate: 05-04-2011] Generalized metabolic disorder[accessedResource: SNOMEDCT:30390004][accessDate: 05-04-2011] Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)[accessedResource: MSH:D008659][accessDate: 05-04-2011] ICD9:277.9 James Malone MD - Metabolic disorders MD - Metabolic disorders[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011] METAB DIS METAB DIS[accessedResource: MSH:D008659][accessDate: 05-04-2011] METABOLISM DISORDER NOS METABOLISM DISORDER NOS[accessedResource: ICD9:277.9][accessDate: 05-04-2011] MSH:D008659 Metabolic Diseases Metabolic Diseases[accessedResource: NCIt:C3235][accessDate: 05-04-2011] Metabolic Disorder Metabolic Disorder[accessedResource: NCIt:C3235][accessDate: 05-04-2011] Metabolic disease (disorder) Metabolic disease (disorder)[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011] Metabolic disease, NOS Metabolic disease, NOS[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011] Metabolic disorder, NOS Metabolic disorder, NOS[accessedResource: SNOMEDCT:75934005][accessDate: 05-04-2011] Metabolic disorders NCIt:C3235 SNOMEDCT:267456000 SNOMEDCT:30390004 SNOMEDCT:75934005 Thesaurismoses Thesaurismoses[accessedResource: MSH:D008659][accessDate: 05-04-2011] Thesaurismosis Thesaurismosis[accessedResource: MSH:D008659][accessDate: 05-04-2011] Unspecified disorder of metabolism Unspecified disorder of metabolism[accessedResource: ICD9:277.9][accessDate: 05-04-2011] disease of metabolism disease of metabolism[accessedResource: DOID:0014667][accessDate: 05-04-2011] metabolic disease [accessedResource: DOID:0014667][accessDate: 05-04-2011] metabolism disorder obsolete_mitochondrial disorder DOID:700 Deficiencies, Oxidative Phosphorylation Deficiencies, Oxidative Phosphorylation[accessedResource: MSH:D028361][accessDate: 05-04-2011] Deficiencies, Respiratory Chain Deficiencies, Respiratory Chain[accessedResource: MSH:D028361][accessDate: 05-04-2011] Deficiency, Oxidative Phosphorylation Deficiency, Oxidative Phosphorylation[accessedResource: MSH:D028361][accessDate: 05-04-2011] Deficiency, Respiratory Chain Deficiency, Respiratory Chain[accessedResource: MSH:D028361][accessDate: 05-04-2011] Disease, Mitochondrial Disease, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011] Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.[accessedResource: MSH:D028361][accessDate: 05-04-2011] Disorder, Mitochondrial Disorder, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011] Disorders, Mitochondrial Disorders, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011] ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL[accessedResource: MSH:D028361][accessDate: 05-04-2011] Electron Transport Chain Deficiencies, Mitochondrial Electron Transport Chain Deficiencies, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011] GeneRIF:12111367 GeneRIF:14506721 GeneRIF:14746906 GeneRIF:15571233 James Malone MITOCHONDRIAL DIS MITOCHONDRIAL DIS[accessedResource: MSH:D028361][accessDate: 05-04-2011] MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC MITOCHONDRIAL ELECTRON TRANSPORT CHAIN DEFIC[accessedResource: MSH:D028361][accessDate: 05-04-2011] MSH:D028361 Mitochondrial Disease[accessedResource: MSH:D028361][accessDate: 05-04-2011] Mitochondrial Diseases Mitochondrial Diseases[accessedResource: MSH:D028361][accessDate: 05-04-2011] Mitochondrial Disorders Mitochondrial Disorders[accessedResource: MSH:D028361][accessDate: 05-04-2011] Mitochondrial Electron Transport Chain Deficiencies Mitochondrial Electron Transport Chain Deficiencies[accessedResource: MSH:D028361][accessDate: 05-04-2011] Mitochondrial Respiratory Chain Deficiencies Mitochondrial Respiratory Chain Deficiencies[accessedResource: MSH:D028361][accessDate: 05-04-2011] OX PHOS DEFIC OX PHOS DEFIC[accessedResource: MSH:D028361][accessDate: 05-04-2011] Oxidative Phosphorylation Deficiencies Oxidative Phosphorylation Deficiencies[accessedResource: MSH:D028361][accessDate: 05-04-2011] Oxidative Phosphorylation Deficiency Oxidative Phosphorylation Deficiency[accessedResource: MSH:D028361][accessDate: 05-04-2011] Phosphorylation Deficiencies, Oxidative Phosphorylation Deficiencies, Oxidative[accessedResource: MSH:D028361][accessDate: 05-04-2011] Phosphorylation Deficiency, Oxidative Phosphorylation Deficiency, Oxidative[accessedResource: MSH:D028361][accessDate: 05-04-2011] RESPIRATORY CHAIN DEFIC MITOCHONDRIAL RESPIRATORY CHAIN DEFIC MITOCHONDRIAL[accessedResource: MSH:D028361][accessDate: 05-04-2011] Respiratory Chain Deficiencies, Mitochondrial Respiratory Chain Deficiencies, Mitochondrial[accessedResource: MSH:D028361][accessDate: 05-04-2011] Respiratory Chain Deficiency Respiratory Chain Deficiency[accessedResource: MSH:D028361][accessDate: 05-04-2011] hyperglycaemia mitochondrial disease mitochondrial disease/disorder mitochondrial disease/disorder[accessedResource: DOID:700][accessDate: 05-04-2011] 2.32 true Reorganised according to Orphanet hierarchy obsolete_mixed lobular and ductal breast carcinoma 1.5 DOID:6582 Duplicate with invasive ductal and lobular carcinoma (EFO_0000552) James Malone NCIt:C5160 NCIt:C6939 NCIt:C7689 NCIt:C7690 SNOMEDCT:35232005 true monophasic synovial sarcoma A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only. A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.[accessedResource: NCIt:C6534][accessDate: 05-04-2011] DOID:5495 James Malone Monophasic Sarcoma of Synovium[accessedResource: NCIt:C6534][accessDate: 05-04-2011] Monophasic sarcoma of Synovium NCIt:C6534 monophasic sarcoma of the synovium monophasic sarcoma of the synovium[accessedResource: DOID:5495][accessDate: 05-04-2011] obsolete_motoneuron 1.8 A neuron with a motor function; an efferent neuron conveying motor impulses. An efferent neuron that passes from the central nervous system or a ganglion toward or to a muscle and conducts an impulse that causes movement. BTO:0000312 CL:0000100 James Malone duplicate deprecated in favour of motor neurone true 129 mouse strain 129 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml James Malone Simpson E. M., Linder C. C., Sargent E. E., Davisson M. T., Mobraaten L. E., and Sharp J. J. (1997) Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice. Nature Genet. 16, 19-27. http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml 129S6 129S6 is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml 129S6/SvEvTac 129S6/SvEvTac[accessedResource: NIFSTD:birnlex_174][accessDate: 05-04-2011] James Malone NIFSTD:birnlex_174 Tomasz Adamusiak http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml 129/Sv 129/Sv is a substrain of the mouse strain 129 as described in Jackson Laboratory http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml James Malone http://www.informatics.jax.org/mgihome/nomen/strain_129.shtml 129X1/SvJ 129X1 129X1/SvJ is a substrain of the mouse strain 129 as described in Jackson Laboratory http://jaxmice.jax.org/strain/000691.html Note this strain was formerly called 129X1 James Malone NIFSTD:birnlex_557 Tomasz Adamusiak http://jaxmice.jax.org/strain/000691.html 129xC57BL/6 129xC57BL/6 is a substrain of the mouse strain 129 as described in article PUBMED ID 15015938 James Malone PUBMED ID: 15015938 BALB/c BALB/c is a mouse strain of albion mice. BALBc BALBc[accessedResource: NIFSTD:birnlex_206][accessDate: 05-04-2011] James Malone NIFSTD:birnlex_206 Tomasz Adamusiak http://en.wikipedia.org/wiki/BALB/c BALB/cByJ BALB is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/001026.html James Malone http://jaxmice.jax.org/strain/001026.html C57BL/10 C57BL/10 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/searches/reference.cgi?7550 James Malone http://www.informatics.jax.org/searches/reference.cgi?7550 obsolete_C57BL/6 2.5 C57BL/6 is a mouse strain as described in Jackson Laboratory http://www.informatics.jax.org/external/festing/mouse/docs/C57BL.shtml James Malone NIFSTD:birnlex_398 Tomasz Adamusiak duplicate of EFO_0000606 http://www.informatics.jax.org/external/festing/mouse/docs/C57BL.shtml true C57BL/6J C57BL/6J is a mouse strain as described in Jackson Laboratory http://phenome.jax.org/db/q?rtn=strains/details&strainid=7 C57BL6J C57BL6J[accessedResource: NIFSTD:birnlex_393][accessDate: 05-04-2011] James Malone NIFSTD:birnlex_393 Tomasz Adamusiak http://phenome.jax.org/db/q?rtn=strains/details&strainid=7 obsolete_mouse strain 2.0.1 James Malone Strain or line specific to mouse consolidation of strains with organism taxon. mouse strain subclasses are moved to mus musculus subclasses true myocardial infarction Attack - heart Attack - heart[accessedResource: DOID:5844][accessDate: 05-04-2011] Cardiac infarction Cardiac infarction, NOS Cardiac infarction, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] Cardiac infarction[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] DOID:5844 GeneRIF:11816707 GeneRIF:11820456 GeneRIF:11834491 GeneRIF:11858502 GeneRIF:11861414 GeneRIF:11871391 GeneRIF:11903359 GeneRIF:11926892 GeneRIF:11934213 GeneRIF:11994975 GeneRIF:11999647 GeneRIF:12011770 GeneRIF:12070000 GeneRIF:12081984 GeneRIF:12081989 GeneRIF:12165563 GeneRIF:12200370 GeneRIF:12226742 GeneRIF:12237129 GeneRIF:12362496 GeneRIF:12392996 GeneRIF:12395208 GeneRIF:12426569 GeneRIF:12430844 GeneRIF:12452318 GeneRIF:12456499 GeneRIF:12469616 GeneRIF:12482844 GeneRIF:12483464 GeneRIF:12514663 GeneRIF:12514664 GeneRIF:12535745 GeneRIF:12535806 GeneRIF:12600920 GeneRIF:12615902 GeneRIF:12649084 GeneRIF:12663371 GeneRIF:12697693 GeneRIF:12714332 GeneRIF:12719858 GeneRIF:12745799 GeneRIF:12746412 GeneRIF:12760310 GeneRIF:12771003 GeneRIF:12805025 GeneRIF:12818419 GeneRIF:12819031 GeneRIF:12824724 GeneRIF:12844196 GeneRIF:12853162 GeneRIF:12855229 GeneRIF:12855673 GeneRIF:12855940 GeneRIF:12860906 GeneRIF:12891167 GeneRIF:12898814 GeneRIF:12958147 GeneRIF:12969888 GeneRIF:14500723 GeneRIF:14517168 GeneRIF:14530192 GeneRIF:14556196 GeneRIF:14575298 GeneRIF:14575314 GeneRIF:14581297 GeneRIF:14600184 GeneRIF:14631138 GeneRIF:14645853 GeneRIF:14646971 GeneRIF:14652632 GeneRIF:14653443 GeneRIF:14656915 GeneRIF:14693682 GeneRIF:14717963 GeneRIF:14729404 GeneRIF:14770184 GeneRIF:14871556 GeneRIF:14962947 GeneRIF:14966366 GeneRIF:14983241 GeneRIF:14986172 GeneRIF:14993131 GeneRIF:15009479 GeneRIF:15075297 GeneRIF:15081319 GeneRIF:15129282 GeneRIF:15140146 GeneRIF:15140581 GeneRIF:15150438 GeneRIF:15170085 GeneRIF:15175818 GeneRIF:15193812 GeneRIF:15201542 GeneRIF:15210453 GeneRIF:15213208 GeneRIF:15226628 GeneRIF:15234427 GeneRIF:15256074 GeneRIF:15269835 GeneRIF:15292372 GeneRIF:15297380 GeneRIF:15298543 GeneRIF:15319210 GeneRIF:15376321 GeneRIF:15458948 GeneRIF:15466009 GeneRIF:15466927 GeneRIF:15467919 GeneRIF:15520258 GeneRIF:15520319 GeneRIF:15533859 GeneRIF:15533863 GeneRIF:15539626 GeneRIF:15576653 GeneRIF:15583729 GeneRIF:15616022 GeneRIF:15665106 GeneRIF:15678273 GeneRIF:15681698 GeneRIF:15699461 GeneRIF:15754085 GeneRIF:15763077 GeneRIF:15764682 GeneRIF:15793582 GeneRIF:15808838 GeneRIF:15842378 GeneRIF:15861005 GeneRIF:15883205 GeneRIF:15907784 GeneRIF:15931235 GeneRIF:15949932 GeneRIF:15978110 GeneRIF:15998711 GeneRIF:16087130 GeneRIF:16102106 GeneRIF:16116695 GeneRIF:16159602 GeneRIF:16186408 GeneRIF:16276010 Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis. Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.[accessedResource: NCIt:C27996][accessDate: 05-04-2011] Heart attack, NOS Heart attack, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] Heart attack[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] INFARCTION (MI), MYOCARDIAL INFARCTION (MI), MYOCARDIAL[accessedResource: NCIt:C27996][accessDate: 05-04-2011] Infarct, Myocardial Infarct, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011] Infarction of heart Infarction of heart, NOS Infarction of heart, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] Infarction of heart[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] Infarction, Myocardial Infarction, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011] Infarctions, Myocardial Infarctions, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011] Infarcts, Myocardial Infarcts, Myocardial[accessedResource: MSH:D009203][accessDate: 05-04-2011] James Malone MI MI - Myocardial infarction MI - Myocardial infarction[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] MI, MYOCARDIAL INFARCTION MI, MYOCARDIAL INFARCTION[accessedResource: NCIt:C27996][accessDate: 05-04-2011] MI[accessedResource: NCIt:C27996][accessDate: 05-04-2011] MSH:D009203 MYOCARDIAL INFARCTION, (MI) MYOCARDIAL INFARCTION, (MI)[accessedResource: NCIt:C27996][accessDate: 05-04-2011] Myocardial Infarct Myocardial Infarct[accessedResource: MSH:D009203][accessDate: 05-04-2011] Myocardial Infarctions Myocardial Infarctions[accessedResource: MSH:D009203][accessDate: 05-04-2011] Myocardial Infarcts Myocardial Infarcts[accessedResource: MSH:D009203][accessDate: 05-04-2011] Myocardial infarction (disorder) Myocardial infarction (disorder)[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] Myocardial infarction NOS Myocardial infarction NOS[accessedResource: DOID:5844][accessDate: 05-04-2011] Myocardial infarction, NOS Myocardial infarction, NOS[accessedResource: SNOMEDCT:22298006][accessDate: 05-04-2011] NCIt:C27996 NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION). NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).[accessedResource: MSH:D009203][accessDate: 05-04-2011] SNOMEDCT:22298006 heart attack true myxoid liposarcoma A liposarcoma containing myxomatous tissue. (Dorland, 27th ed) A liposarcoma containing myxomatous tissue. (Dorland, 27th ed)[accessedResource: MSH:D018208][accessDate: 05-04-2011] DOID:5363 GeneRIF:12915480 Liposarcoma, Myxoid Liposarcoma, Myxoid[accessedResource: MSH:D018208][accessDate: 05-04-2011] Liposarcomas, Myxoid Liposarcomas, Myxoid[accessedResource: MSH:D018208][accessDate: 05-04-2011] MSH:D018208 Myxoid Liposarcomas Myxoid Liposarcomas[accessedResource: MSH:D018208][accessDate: 05-04-2011] Myxoid liposarcoma (disorder) Myxoid liposarcoma (disorder)[accessedResource: SNOMEDCT:404069006][accessDate: 05-04-2011] Myxoid liposarcoma (morphologic abnormality) Myxoid liposarcoma (morphologic abnormality)[accessedResource: DOID:5363][accessDate: 05-04-2011] Myxoliposarcoma Myxoliposarcoma[accessedResource: SNOMEDCT:27849002][accessDate: 05-04-2011] NCIt:C3735 OMIM:613488 SNOMEDCT:27849002 SNOMEDCT:404069006 The most common type of liposarcoma. It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma. The most common type of liposarcoma. It is composed of round to oval mesenchymal cells, small signet ring lipoblasts, and a rich network of capillaries in a myxoid stroma.[accessedResource: NCIt:C3735][accessDate: 05-04-2011] Tomasz Adamusiak narcolepsy A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7) A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)[accessedResource: MSH:D009290][accessDate: 05-04-2011] DOID:8986 Gelineau Syndrome Gelineau Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011] Gelineau's Syndrome Gelineau's Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011] Gelineau's Syndromes Gelineau's Syndromes[accessedResource: MSH:D009290][accessDate: 05-04-2011] Gelineaus Syndrome Gelineaus Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011] GeneRIF:11796186 GeneRIF:12414876 GeneRIF:12535955 GeneRIF:12601524 GeneRIF:12823767 GeneRIF:14769912 GeneRIF:15070772 GeneRIF:15091316 GeneRIF:15157381 GeneRIF:15453542 GeneRIF:15985489 ICD9:347.0 James Malone MSH:D009290 Narcolepsy (disorder) Narcolepsy (disorder)[accessedResource: DOID:8986][accessDate: 05-04-2011] Narcolepsy Cataplexy Syndrome Narcolepsy Cataplexy Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011] Narcolepsy NOS Narcolepsy NOS[accessedResource: DOID:8986][accessDate: 05-04-2011] Narcolepsy, without cataplexy Narcolepsy, without cataplexy[accessedResource: DOID:8986][accessDate: 05-04-2011] Narcolepsy-Cataplexy Syndrome Narcolepsy-Cataplexy Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011] Narcolepsy-Cataplexy Syndromes Narcolepsy-Cataplexy Syndromes[accessedResource: MSH:D009290][accessDate: 05-04-2011] Narcoleptic Syndrome Narcoleptic Syndrome[accessedResource: MSH:D009290][accessDate: 05-04-2011] Narcoleptic Syndromes Narcoleptic Syndromes[accessedResource: MSH:D009290][accessDate: 05-04-2011] OMIM:161400 Paroxysmal Sleep Sleep, Paroxysmal Sleep, Paroxysmal[accessedResource: MSH:D009290][accessDate: 05-04-2011] Syndrome, Gelineau Syndrome, Gelineau's Syndrome, Gelineau's[accessedResource: MSH:D009290][accessDate: 05-04-2011] Syndrome, Gelineau[accessedResource: MSH:D009290][accessDate: 05-04-2011] Syndrome, Narcolepsy-Cataplexy Syndrome, Narcolepsy-Cataplexy[accessedResource: MSH:D009290][accessDate: 05-04-2011] Syndrome, Narcoleptic Syndrome, Narcoleptic[accessedResource: MSH:D009290][accessDate: 05-04-2011] Syndromes, Gelineau's Syndromes, Gelineau's[accessedResource: MSH:D009290][accessDate: 05-04-2011] Syndromes, Narcolepsy-Cataplexy Syndromes, Narcolepsy-Cataplexy[accessedResource: MSH:D009290][accessDate: 05-04-2011] Syndromes, Narcoleptic Syndromes, Narcoleptic[accessedResource: MSH:D009290][accessDate: 05-04-2011] Tomasz Adamusiak paroxysmal sleep[accessedResource: DOID:8986][accessDate: 05-04-2011] true neoplasm A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.[accessedResource: NCIt:C3262][accessDate: 05-04-2011] James Malone MSH:D009369 NCIt:C3262 NEOPL NEOPLASMS BENIGN, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS) NEOPLASMS BENIGN, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS)[accessedResource: NCIt:C3262][accessDate: 05-04-2011] NEOPL[accessedResource: MSH:D009369][accessDate: 05-04-2011] Neoplasia Neoplasia[accessedResource: NCIt:C3262][accessDate: 05-04-2011] Neoplasm, Benign[accessedResource: MSH:D009369][accessDate: 05-04-2011] Neoplasms Neoplasms, Benign[accessedResource: MSH:D009369][accessDate: 05-04-2011] Neoplasms[accessedResource: NCIt:C3262][accessDate: 05-04-2011] Neoplastic Growth Neoplastic Growth[accessedResource: NCIt:C3262][accessDate: 05-04-2011] New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.[accessedResource: MSH:D009369][accessDate: 05-04-2011] Tomasz Adamusiak Tumor Tumor[accessedResource: NCIt:C3262][accessDate: 05-04-2011] Tumors Tumors[accessedResource: MSH:D009369][accessDate: 05-04-2011] tumour tumours obsolete_nerve cell 1.8 CL:0000540 Detected as synonym for neuron, deprecated in favour of it. James Malone The basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. true nervous system disease Central Nervous System Disease Central Nervous System Disease[accessedResource: NCIt:C2934][accessDate: 05-04-2011] Central Nervous System Disorder Central Nervous System Disorder[accessedResource: NCIt:C2934][accessDate: 05-04-2011] James Malone NCIt:C2934 neuroblastoma (neuroblastoma NOS) or (sympathicoblastoma) (neuroblastoma NOS) or (sympathicoblastoma)[accessedResource: DOID:769][accessDate: 05-04-2011] A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH). A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).[accessedResource: NIFSTD:birnlex_12631][accessDate: 05-04-2011] A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51) A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)[accessedResource: MSH:D009447][accessDate: 05-04-2011] A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation. A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.[accessedResource: NCIt:C3270][accessDate: 05-04-2011] Central neuroblastoma Central neuroblastoma[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011] DOID:769 GeneRIF:11705866 GeneRIF:11737230 GeneRIF:11744098 GeneRIF:11782392 GeneRIF:11807986 GeneRIF:11836564 GeneRIF:11859407 GeneRIF:11861392 GeneRIF:11870543 GeneRIF:11877670 GeneRIF:11877677 GeneRIF:11881792 GeneRIF:11928813 GeneRIF:12031683 GeneRIF:12085233 GeneRIF:12118090 GeneRIF:12154078 GeneRIF:12163469 GeneRIF:12174591 GeneRIF:12185581 GeneRIF:12209604 GeneRIF:12239177 GeneRIF:12438307 GeneRIF:12545167 GeneRIF:12557224 GeneRIF:12576454 GeneRIF:12593854 GeneRIF:12598334 GeneRIF:12629151 GeneRIF:12629521 GeneRIF:12647219 GeneRIF:12672031 GeneRIF:12675130 GeneRIF:12717420 GeneRIF:12808116 GeneRIF:12829373 GeneRIF:12884264 GeneRIF:12888911 GeneRIF:12907629 GeneRIF:12916719 GeneRIF:12962147 GeneRIF:12964007 GeneRIF:13679866 GeneRIF:14645238 GeneRIF:14654552 GeneRIF:14663483 GeneRIF:14719101 GeneRIF:14724587 GeneRIF:14745549 GeneRIF:14988008 GeneRIF:14995074 GeneRIF:15004408 GeneRIF:15015775 GeneRIF:15024693 GeneRIF:15083193 GeneRIF:15117961 GeneRIF:15136145 GeneRIF:15166121 GeneRIF:15168079 GeneRIF:15218241 GeneRIF:15240516 GeneRIF:15280446 GeneRIF:15316056 GeneRIF:15322424 GeneRIF:15328517 GeneRIF:15375504 GeneRIF:15448191 GeneRIF:15486895 GeneRIF:15488758 GeneRIF:15514946 GeneRIF:15516980 GeneRIF:15518890 GeneRIF:15547663 GeneRIF:15607966 GeneRIF:15618969 GeneRIF:15644444 GeneRIF:15650242 GeneRIF:15719172 GeneRIF:15735700 GeneRIF:15741235 GeneRIF:15827327 GeneRIF:15849504 GeneRIF:15882878 GeneRIF:15930276 GeneRIF:15994346 GeneRIF:15998644 GeneRIF:16007146 GeneRIF:16051641 GeneRIF:16091745 GeneRIF:16092940 GeneRIF:16098972 GeneRIF:16125842 GeneRIF:16166307 GeneRIF:16177824 GeneRIF:16228012 GeneRIF:16232196 James Malone MSH:D009447 NB - Neuroblastoma NB - Neuroblastoma[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011] NCIt:C3270 NIFSTD:birnlex_12631 Neuroblastoma, NOS Neuroblastoma, NOS[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011] Neuroblastomas Neuroblastomas[accessedResource: MSH:D009447][accessDate: 05-04-2011] SNOMEDCT:269507008 SNOMEDCT:87364003 Sympathicoblastoma Sympathicoblastoma[accessedResource: SNOMEDCT:87364003][accessDate: 05-04-2011] Tomasz Adamusiak [M]Neuroblastoma NOS [M]Neuroblastoma NOS (morphologic abnormality) [M]Neuroblastoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:269507008][accessDate: 05-04-2011] [M]Neuroblastoma NOS[accessedResource: SNOMEDCT:269507008][accessDate: 05-04-2011] neuroblastoma (Schwannian Stroma-Poor) neuroblastoma (Schwannian Stroma-Poor)[accessedResource: DOID:769][accessDate: 05-04-2011] neuroblastoma (morphologic abnormality) neuroblastoma (morphologic abnormality)[accessedResource: DOID:769][accessDate: 05-04-2011] neuroblastoma NOS (morphologic abnormality) neuroblastoma NOS (morphologic abnormality)[accessedResource: DOID:769][accessDate: 05-04-2011] true neurofibroma A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH). A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands (MeSH).[accessedResource: NIFSTD:birnlex_12604][accessDate: 05-04-2011] A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016) A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)[accessedResource: MSH:D009455][accessDate: 05-04-2011] An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors. An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.[accessedResource: NCIt:C3272][accessDate: 05-04-2011] DOID:962 GeneRIF:14679180 GeneRIF:15652750 James Malone MSH:D009455 NCIt:C3272 NIFSTD:birnlex_12604 Nerve sheath tumor Nerve sheath tumor (morphologic abnormality) Nerve sheath tumor (morphologic abnormality)[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011] Nerve sheath tumor[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011] Nerve sheath tumour Nerve sheath tumour[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011] Neurofibroma (WHO Grade I) Neurofibroma (WHO Grade I)[accessedResource: NCIt:C3272][accessDate: 05-04-2011] Neurofibroma (disorder) Neurofibroma (disorder)[accessedResource: SNOMEDCT:404029005][accessDate: 05-04-2011] Neurofibroma (morphologic abnormality) Neurofibroma (morphologic abnormality)[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011] Neurofibroma NOS (morphologic abnormality) Neurofibroma, NOS Neurofibroma, NOS[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011] Neurofibroma, no ICD-O subtype Neurofibroma, no ICD-O subtype (morphologic abnormality) Neurofibroma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011] Neurofibroma, no ICD-O subtype[accessedResource: SNOMEDCT:89084002][accessDate: 05-04-2011] Neurofibromas Neurofibromas[accessedResource: MSH:D009455][accessDate: 05-04-2011] SNOMEDCT:115242003 SNOMEDCT:189947001 SNOMEDCT:404029005 SNOMEDCT:89084002 Tomasz Adamusiak [M]Neurofibroma NOS [M]Neurofibroma NOS (morphologic abnormality) [M]Neurofibroma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189947001][accessDate: 05-04-2011] [M]Neurofibroma NOS[accessedResource: SNOMEDCT:189947001][accessDate: 05-04-2011] [M]Neurofibromas [M]Neurofibromas[accessedResource: SNOMEDCT:115242003][accessDate: 05-04-2011] nevus DOID:2681 James Malone MSH:D009506 Mole NOS Mole NOS[accessedResource: DOID:2681][accessDate: 05-04-2011] Mole of skin Mole of skin[accessedResource: DOID:2681][accessDate: 05-04-2011] Tomasz Adamusiak cutaneous nevi cutaneous nevus nevus (disorder) nevus (disorder)[accessedResource: DOID:2681][accessDate: 05-04-2011] nevus, NOS nevus, NOS[accessedResource: DOID:2681][accessDate: 05-04-2011] skin mole, NOS skin mole, NOS[accessedResource: DOID:2681][accessDate: 05-04-2011] true obsolete_nucleic acid extracted Not needed. The type of nucleic acid obtained as a result of following a given protocol. true number of injections James Malone The scalar number of injections administered to a material or organism. observational design James Malone The act of regarding attentively and studying facts and occurrences, gathering data through analyzing, measuring, and drawing conclusions Natalja Kurbatova oligoastrocytoma A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)[accessedResource: NCIt:C4050][accessDate: 05-04-2011] A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655) A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)[accessedResource: MSH:D009837][accessDate: 05-04-2011] Adult Oligodendroglioma Adult Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Adult Oligodendrogliomas Adult Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Anaplastic Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Anaplastic Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Childhood Oligodendroglioma Childhood Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Childhood Oligodendrogliomas Childhood Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] DOID:7912 James Malone MSH:D009837 Mixed Astrocytic-Oligodendroglial Neoplasm Mixed Astrocytic-Oligodendroglial Neoplasm[accessedResource: NCIt:C4050][accessDate: 05-04-2011] Mixed Astrocytic-Oligodendroglial Tumor Mixed Astrocytic-Oligodendroglial Tumor[accessedResource: NCIt:C4050][accessDate: 05-04-2011] Mixed Astrocytoma-Oligodendroglioma Mixed Astrocytoma-Oligodendroglioma[accessedResource: NCIt:C4050][accessDate: 05-04-2011] Mixed Oligo-Astrocytoma Mixed Oligo-Astrocytoma[accessedResource: NCIt:C4050][accessDate: 05-04-2011] Mixed Oligodendroglioma Astrocytoma Mixed Oligodendroglioma Astrocytoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma Ependymoma Mixed Oligodendroglioma Ependymoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma-Astrocytoma Mixed Oligodendroglioma-Astrocytoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma-Astrocytomas Mixed Oligodendroglioma-Astrocytomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma-Ependymoma Mixed Oligodendroglioma-Ependymoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma-Ependymomas Mixed Oligodendroglioma-Ependymomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] NCIt:C4050 OLIGODENDROGLIOMA WELL DIFFER OLIGODENDROGLIOMA WELL DIFFER[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroblastoma Oligodendroblastoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroblastomas Oligodendroblastomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Adult Oligodendroglioma, Adult[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Anaplastic[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Childhood Oligodendroglioma, Childhood[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Well Differentiated Oligodendroglioma, Well Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Well-Differentiated Oligodendroglioma, Well-Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma-Astrocytoma, Mixed Oligodendroglioma-Astrocytoma, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma-Astrocytomas, Mixed Oligodendroglioma-Astrocytomas, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma-Ependymoma, Mixed Oligodendroglioma-Ependymoma, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma-Ependymomas, Mixed Oligodendroglioma-Ependymomas, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas, Adult Oligodendrogliomas, Adult[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas, Anaplastic[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas, Childhood Oligodendrogliomas, Childhood[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas, Well-Differentiated Oligodendrogliomas, Well-Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] WELL DIFFER OLIGODENDROGLIOMA WELL DIFFER OLIGODENDROGLIOMA[accessedResource: MSH:D009837][accessDate: 05-04-2011] WHO Grade II Mixed Glioma WHO Grade II Mixed Glioma[accessedResource: NCIt:C4050][accessDate: 05-04-2011] Well Differentiated Oligodendroglioma Well Differentiated Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Well-Differentiated Oligodendroglioma Well-Differentiated Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Well-Differentiated Oligodendrogliomas Well-Differentiated Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] oligoastroglioma obsolete_oligoastroglioma 1.5 A WHO grade II tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO) A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655) DOID:7912 Duplicate with oligoastrocytoma (EFO_0000630) use this instead James Malone MSH:D009837 NCIt:C4050 true oligodendroglioma A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH). A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms (MeSH).[accessedResource: NIFSTD:birnlex_12627][accessDate: 05-04-2011] A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655) A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)[accessedResource: MSH:D009837][accessDate: 05-04-2011] A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor of adults, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). It generally recurs locally, with median post-operative survival times ranging from 3 to 5 years for patients with all histological grades. (Adapted from WHO.) A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm (&amp;apos;honeycomb&amp;apos; appearance). (Adapted from WHO.) A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO) A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)[accessedResource: NCIt:C3288][accessDate: 05-04-2011] A well-differentiated (WHO grade II), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO.) Adult Oligodendroglioma Adult Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Adult Oligodendrogliomas Adult Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Anaplastic Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Anaplastic Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Childhood Oligodendroglioma Childhood Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Childhood Oligodendrogliomas Childhood Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] DOID:3181 GeneRIF:12635659 GeneRIF:12850541 GeneRIF:12908752 GeneRIF:15484698 GeneRIF:15834925 GeneRIF:15950764 GeneRIF:15993274 GeneRIF:16103065 James Malone MSH:D009837 Mixed Oligodendroglioma Astrocytoma Mixed Oligodendroglioma Astrocytoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma Ependymoma Mixed Oligodendroglioma Ependymoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma-Astrocytoma Mixed Oligodendroglioma-Astrocytoma[accessedResource: NIFSTD:birnlex_12627][accessDate: 05-04-2011] Mixed Oligodendroglioma-Astrocytomas Mixed Oligodendroglioma-Astrocytomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma-Ependymoma Mixed Oligodendroglioma-Ependymoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Mixed Oligodendroglioma-Ependymomas Mixed Oligodendroglioma-Ependymomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] NCIt:C3288 NIFSTD:birnlex_12627 OLIGODENDROGLIOMA WELL DIFFER OLIGODENDROGLIOMA WELL DIFFER[accessedResource: MSH:D009837][accessDate: 05-04-2011] OMIM:137800 Oligodendroblastoma Oligodendroblastoma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroblastomas Oligodendroblastomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma (morphologic abnormality) Oligodendroglioma (morphologic abnormality)[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011] Oligodendroglioma NOS (morphologic abnormality) Oligodendroglioma NOS (morphologic abnormality)[accessedResource: DOID:3181][accessDate: 05-04-2011] Oligodendroglioma, Adult Oligodendroglioma, Adult[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Anaplastic[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Childhood Oligodendroglioma, Childhood[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, NOS Oligodendroglioma, NOS[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011] Oligodendroglioma, Well Differentiated Oligodendroglioma, Well Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, Well-Differentiated Oligodendroglioma, Well-Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma, no ICD-O subtype Oligodendroglioma, no ICD-O subtype (morphologic abnormality) Oligodendroglioma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011] Oligodendroglioma, no ICD-O subtype[accessedResource: SNOMEDCT:73348003][accessDate: 05-04-2011] Oligodendroglioma-Astrocytoma, Mixed Oligodendroglioma-Astrocytoma, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma-Astrocytomas, Mixed Oligodendroglioma-Astrocytomas, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma-Ependymoma, Mixed Oligodendroglioma-Ependymoma, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendroglioma-Ependymomas, Mixed Oligodendroglioma-Ependymomas, Mixed[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas Oligodendrogliomas, Adult Oligodendrogliomas, Adult[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas, Anaplastic[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas, Childhood Oligodendrogliomas, Childhood[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas, Well-Differentiated Oligodendrogliomas, Well-Differentiated[accessedResource: MSH:D009837][accessDate: 05-04-2011] Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] SNOMEDCT:189920006 SNOMEDCT:73348003 Tomasz Adamusiak WELL DIFFER OLIGODENDROGLIOMA WELL DIFFER OLIGODENDROGLIOMA[accessedResource: MSH:D009837][accessDate: 05-04-2011] WHO Grade II Oligodendroglial Neoplasm WHO Grade II Oligodendroglial Neoplasm[accessedResource: NCIt:C3288][accessDate: 05-04-2011] WHO Grade II Oligodendroglial Tumor WHO Grade II Oligodendroglial Tumor[accessedResource: NCIt:C3288][accessDate: 05-04-2011] Well Differentiated Oligodendroglial Tumor Well Differentiated Oligodendroglial Tumor[accessedResource: NCIt:C3288][accessDate: 05-04-2011] Well Differentiated Oligodendroglioma Well Differentiated Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Well-Differentiated Oligodendroglioma Well-Differentiated Oligodendroglioma[accessedResource: MSH:D009837][accessDate: 05-04-2011] Well-Differentiated Oligodendrogliomas Well-Differentiated Oligodendrogliomas[accessedResource: MSH:D009837][accessDate: 05-04-2011] [M]Oligodendroglioma NOS [M]Oligodendroglioma NOS (morphologic abnormality) [M]Oligodendroglioma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189920006][accessDate: 05-04-2011] [M]Oligodendroglioma NOS[accessedResource: SNOMEDCT:189920006][accessDate: 05-04-2011] operator variation A measurement of the effects of different investigators, laboratories, or organizations on experimental results are studied. James Malone MO_38 OperatorVariation OperatorVariation[accessedResource: MO_38][accessDate: 05-04-2011] organism part James Malone Jie Zheng MO_954 The part of organism's anatomy or substance arising from an organism from which the biomaterial was derived, excludes cells. E.g. tissue, organ, system, sperm, blood or body location (arm). Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#organism_part organism_part organism_part[accessedResource: MO_954][accessDate: 05-04-2011] tissue, organ, system, sperm, blood or body location (arm). true obsolete_organism status The stage premortem or postmortem at which the sample was processed for extraction of biomaterials. e.g. alive or dead Use PATO qualities , e.g. dead true osteosarcoma A malignant mesenchymal tumor arising from the bone. A malignant mesenchymal tumor arising from the bone.[accessedResource: NCIt:C9312][accessDate: 05-04-2011] A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed) A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)[accessedResource: MSH:D012516][accessDate: 05-04-2011] A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs. A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.[accessedResource: NCIt:C9145][accessDate: 05-04-2011] Bone Sarcoma Bone Sarcoma[accessedResource: NCIt:C9312][accessDate: 05-04-2011] DOID:3347 GeneRIF:11606061 GeneRIF:11746983 GeneRIF:11776394 GeneRIF:11920494 GeneRIF:11927012 GeneRIF:11943335 GeneRIF:12009018 GeneRIF:12054567 GeneRIF:12154052 GeneRIF:12209731 GeneRIF:12237108 GeneRIF:12376862 GeneRIF:12393937 GeneRIF:12479099 GeneRIF:12544770 GeneRIF:12660817 GeneRIF:12663494 GeneRIF:12709413 GeneRIF:12788094 GeneRIF:12792742 GeneRIF:12972634 GeneRIF:13678785 GeneRIF:14524531 GeneRIF:14528100 GeneRIF:14584080 GeneRIF:14598886 GeneRIF:14645574 GeneRIF:14679136 GeneRIF:14704791 GeneRIF:14710359 GeneRIF:14719070 GeneRIF:15026342 GeneRIF:15087387 GeneRIF:15145525 GeneRIF:15201972 GeneRIF:15210853 GeneRIF:15221963 GeneRIF:15310147 GeneRIF:15448009 GeneRIF:15469899 GeneRIF:15476586 GeneRIF:15488761 GeneRIF:15580288 GeneRIF:15583032 GeneRIF:15609301 GeneRIF:15662138 GeneRIF:15668906 GeneRIF:15701832 GeneRIF:15719069 GeneRIF:15796961 GeneRIF:15814634 GeneRIF:15870699 GeneRIF:15900593 GeneRIF:15922739 GeneRIF:16010425 GeneRIF:16035619 GeneRIF:16087680 GeneRIF:16157226 GeneRIF:16328004 James Malone MSH:D012516 NCIt:C9145 NCIt:C9312 OMIM:259500 Osseous Sarcoma Osseous Sarcoma[accessedResource: NCIt:C9312][accessDate: 05-04-2011] Osteoblastic osteosarcoma Osteoblastic osteosarcoma[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011] Osteoblastic sarcoma Osteoblastic sarcoma[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011] Osteochondrosarcoma Osteochondrosarcoma[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011] Osteogenic Sarcoma Osteogenic Sarcomas Osteogenic Sarcomas[accessedResource: MSH:D012516][accessDate: 05-04-2011] Osteogenic sarcoma, NOS Osteogenic sarcoma, NOS[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011] Osteogenic sarcoma[accessedResource: DOID:3347][accessDate: 05-04-2011] Osteosarcoma - disorder Osteosarcoma - disorder[accessedResource: SNOMEDCT:307576001][accessDate: 05-04-2011] Osteosarcoma Tumor Osteosarcoma Tumor[accessedResource: MSH:D012516][accessDate: 05-04-2011] Osteosarcoma Tumors Osteosarcoma Tumors[accessedResource: MSH:D012516][accessDate: 05-04-2011] Osteosarcoma of bone Osteosarcoma of bone (disorder) Osteosarcoma of bone (disorder)[accessedResource: SNOMEDCT:307576001][accessDate: 05-04-2011] Osteosarcoma of bone[accessedResource: SNOMEDCT:307576001][accessDate: 05-04-2011] Osteosarcoma, NOS Osteosarcoma, NOS[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011] Osteosarcoma, no ICD-O subtype Osteosarcoma, no ICD-O subtype (morphologic abnormality) Osteosarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3347][accessDate: 05-04-2011] Osteosarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011] Osteosarcomas Osteosarcomas[accessedResource: MSH:D012516][accessDate: 05-04-2011] SNOMEDCT:21708004 SNOMEDCT:307576001 Sarcoma of Bone Sarcoma of Bone[accessedResource: NCIt:C9312][accessDate: 05-04-2011] Sarcoma of the Bone Sarcoma of the Bone[accessedResource: NCIt:C9312][accessDate: 05-04-2011] Sarcoma, Osteogenic Sarcoma, Osteogenic[accessedResource: MSH:D012516][accessDate: 05-04-2011] Sarcomas, Osteogenic Sarcomas, Osteogenic[accessedResource: MSH:D012516][accessDate: 05-04-2011] Skeletal Sarcoma Skeletal sarcoma[accessedResource: DOID:3347][accessDate: 05-04-2011] Tomasz Adamusiak Tumor, Osteosarcoma Tumor, Osteosarcoma[accessedResource: MSH:D012516][accessDate: 05-04-2011] Tumors, Osteosarcoma Tumors, Osteosarcoma[accessedResource: MSH:D012516][accessDate: 05-04-2011] [M]Osteosarcoma NOS [M]Osteosarcoma NOS[accessedResource: SNOMEDCT:21708004][accessDate: 05-04-2011] osteoid sarcoma osteoid sarcoma[accessedResource: DOID:3347][accessDate: 05-04-2011] overall survival A measurement of the survival rate for a group of individuals suffering from a disease. James Malone papillary cystadenocarcinoma A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present. A malignant cystic serous or mucinous epithelial neoplasm characterized by the presence of malignant glandular epithelial cells forming papillary structures. Stromal invasion is present.[accessedResource: NCIt:C3777][accessDate: 05-04-2011] An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface. An adenocarcinoma in which the tumor elements are arranged as finger-like processes or as a solid spherical nodule projecting from an epithelial surface.[accessedResource: MSH:D018283][accessDate: 05-04-2011] Cystadenocarcinoma, Papillary Cystadenocarcinoma, Papillary[accessedResource: MSH:D018283][accessDate: 05-04-2011] Cystadenocarcinomas, Papillary Cystadenocarcinomas, Papillary[accessedResource: MSH:D018283][accessDate: 05-04-2011] DOID:3110 GeneRIF:12911720 James Malone MSH:D018283 NCIt:C3777 Papillary Cystadenocarcinomas Papillary Cystadenocarcinomas[accessedResource: MSH:D018283][accessDate: 05-04-2011] Papillary cystadenocarcinoma (morphologic abnormality) Papillary cystadenocarcinoma (morphologic abnormality)[accessedResource: DOID:3110][accessDate: 05-04-2011] Papillary cystadenocarcinoma, NOS Papillary cystadenocarcinoma, NOS (morphologic abnormality) Papillary cystadenocarcinoma, NOS (morphologic abnormality)[accessedResource: DOID:3110][accessDate: 05-04-2011] Papillary cystadenocarcinoma, NOS[accessedResource: SNOMEDCT:2735009][accessDate: 05-04-2011] Papillocystic adenocarcinoma Papillocystic adenocarcinoma[accessedResource: SNOMEDCT:2735009][accessDate: 05-04-2011] SNOMEDCT:189687009 SNOMEDCT:2735009 [M]Papillary cystadenocarcinoma, NOS [M]Papillary cystadenocarcinoma, NOS (morphologic abnormality) [M]Papillary cystadenocarcinoma, NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189687009][accessDate: 05-04-2011] [M]Papillary cystadenocarcinoma, NOS[accessedResource: SNOMEDCT:189687009][accessDate: 05-04-2011] papillary renal cell carcinoma Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma. -- 2003 Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma. -- 2003[accessedResource: NCIt:C6975][accessDate: 05-04-2011] Chromophil Carcinoma of kidney Chromophil Carcinoma of the Kidney Chromophil Carcinoma of the Kidney[accessedResource: NCIt:C6975][accessDate: 05-04-2011] Chromophil Renal Cell Carcinoma Chromophil Renal Cell Carcinoma[accessedResource: NCIt:C6975][accessDate: 05-04-2011] Chromophil carcinoma of kidney[accessedResource: DOID:4465][accessDate: 05-04-2011] DOID:4465 GeneRIF:15073597 GeneRIF:15502805 GeneRIF:15579033 James Malone NCIt:C6975 OMIM:605074 Papillary (Chromophil) Renal Cell Carcinoma Papillary (Chromophil) Renal Cell Carcinoma[accessedResource: NCIt:C6975][accessDate: 05-04-2011] Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages. Papillary renal cell carcinoma is a renal cell carcinoma characterized as the second most common type of renal cell carcinoma. The cancerous cells form some projections in a finger shape, called papillae, in the tumor. This type of cancer is more common among African Americans and has a good prognosis if treated with surgery in its early stages.[accessedResource: DOID:4465][accessDate: 05-04-2011] Tomasz Adamusiak papillary thyroid carcinoma A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation. A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. It is linked to radiation exposure and is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include: thyroid function tests, thyroid radioisotope scanning, thyroid ultrasound, and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance. Depending on the size and spread of the disease, surgical options include lobectomy, and partial or complete thyroidectomy. Adjuvant treatment options include: radioiodine therapy, TSH suppression and external radiation.[accessedResource: NCIt:C4035][accessDate: 05-04-2011] DOID:3969 GeneRIF:11786418 GeneRIF:11994357 GeneRIF:12140756 GeneRIF:12193298 GeneRIF:12203787 GeneRIF:12538453 GeneRIF:12640681 GeneRIF:12670889 GeneRIF:12720532 GeneRIF:12819023 GeneRIF:12964023 GeneRIF:14532972 GeneRIF:14534696 GeneRIF:14568171 GeneRIF:14584755 GeneRIF:14586073 GeneRIF:14761598 GeneRIF:15126572 GeneRIF:15192042 GeneRIF:15277225 GeneRIF:15709169 GeneRIF:15716612 GeneRIF:15753666 GeneRIF:15785240 GeneRIF:15785245 GeneRIF:15803188 GeneRIF:15817909 GeneRIF:15968271 GeneRIF:15980887 GeneRIF:15998773 GeneRIF:16007166 James Malone NCIt:C4035 OMIM:188550 PTC - Papillary thyroid carcinoma PTC - Papillary thyroid carcinoma[accessedResource: SNOMEDCT:255029007][accessDate: 05-04-2011] Papillary Cancer of Thyroid Papillary Cancer of Thyroid Gland Papillary Cancer of Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Cancer of Thyroid[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Cancer of the Thyroid Papillary Cancer of the Thyroid Gland Papillary Cancer of the Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Cancer of the Thyroid[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Carcinoma of Thyroid Gland Papillary Carcinoma of Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Carcinoma of the Thyroid Papillary Carcinoma of the Thyroid Gland Papillary Carcinoma of the Thyroid Gland[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Carcinoma of the Thyroid[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Thyroid Cancer Papillary Thyroid Cancer[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary Thyroid Gland Carcinoma Papillary Thyroid Gland Carcinoma[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Papillary adenocarcinoma Papillary adenocarcinoma (morphologic abnormality) Papillary adenocarcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011] Papillary adenocarcinoma, NOS Papillary adenocarcinoma, NOS[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011] Papillary adenocarcinoma[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011] Papillary carcinoma of thyroid Papillary carcinoma of thyroid[accessedResource: DOID:3969][accessDate: 05-04-2011] Papillary renal cell carcinoma[accessedResource: SNOMEDCT:4797003][accessDate: 05-04-2011] Papillary thyroid carcinoma (disorder) Papillary thyroid carcinoma (disorder)[accessedResource: SNOMEDCT:255029007][accessDate: 05-04-2011] SNOMEDCT:255029007 SNOMEDCT:4797003 Thyroid Gland Papillary Carcinoma Thyroid Gland Papillary Carcinoma[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Thyroid Papillary Carcinoma Thyroid Papillary Carcinoma[accessedResource: NCIt:C4035][accessDate: 05-04-2011] Tomasz Adamusiak pathogen A biological agent that causes disease or illness to its host James Malone pathogen test Jie Zheng MO_184 PathogenTest PathogenTest[accessedResource: MO_184][accessDate: 05-04-2011] Tests and results for pathogens infecting organism from which the biosource is derived Tomasz Adamusiak obsolete_percent oxygen true obsolete_percent oxygen concentration true experiment performer An individual who does some experimental process. James Malone period of infection James Malone periodontitis Chronic pericementitis (disorder) Chronic pericementitis[accessedResource: SNOMEDCT:196365008][accessDate: 05-04-2011] Chronic periodontitis Chronic periodontitis NOS Chronic periodontitis NOS[accessedResource: SNOMEDCT:196369002][accessDate: 05-04-2011] Chronic periodontitis[accessedResource: ICD9:523.4][accessDate: 05-04-2011] DOID:824 GeneRIF:11846846 GeneRIF:12370398 GeneRIF:12469211 GeneRIF:12595898 GeneRIF:12747454 GeneRIF:12759451 GeneRIF:12795790 GeneRIF:12834496 GeneRIF:14734770 GeneRIF:15025215 GeneRIF:15279649 GeneRIF:15312099 GeneRIF:15491310 GeneRIF:15845467 GeneRIF:15974847 GeneRIF:16018746 GeneRIF:16052575 GeneRIF:16208406 ICD9:523.4 Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology) Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)[accessedResource: MSH:D010518][accessDate: 05-04-2011] James Malone MSH:D010518 NCIt:C34918 NCIt:C35326 OMIM:260950 Pericementitides Pericementitides[accessedResource: MSH:D010518][accessDate: 05-04-2011] Pericementitis Pericementitis[accessedResource: MSH:D010518][accessDate: 05-04-2011] Periodontitides Periodontitides[accessedResource: MSH:D010518][accessDate: 05-04-2011] Periodontitis (disorder) Periodontitis (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011] Periodontitis, NOS Periodontitis, NOS[accessedResource: SNOMEDCT:41565005][accessDate: 05-04-2011] SNOMEDCT:196365008 SNOMEDCT:196369002 SNOMEDCT:41565005 SNOMEDCT:5689008 Tomasz Adamusiak chronic pericementitis chronic pericementitis (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011] chronic periodontitis (disorder) chronic periodontitis (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011] chronic periodontitis NOS (disorder) chronic periodontitis NOS (disorder)[accessedResource: DOID:824][accessDate: 05-04-2011] true whooping cough (Whooping cough) or (Bordetella) A commensal Alcaligenaceae infectious disease and is_a respiratory system disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis. A commensal Alcaligenaceae infectious disease and is_a respiratory system disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis.[accessedResource: DOID:1116][accessDate: 05-04-2011] A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath. A respiratory infection caused by BORDETELLA PERTUSSIS and characterized by paroxysmal coughing ending in a prolonged crowing intake of breath.[accessedResource: MSH:D014917][accessDate: 05-04-2011] A respiratory system infectious disease that is caused by bacteria of the genus Bordetella characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). The bacterium Bordetella pertussis causes a highly contagious form of whooping cough, and a milder disease is caused by Bordetella parapertussis. BORDETELLA PERTUSSIS[accessedResource: ICD9:033.0][accessDate: 05-04-2011] Bordetella pertussis Infection, Respiratory Bordetella pertussis Infection, Respiratory[accessedResource: MSH:D014917][accessDate: 05-04-2011] Cough, Whooping Cough, Whooping[accessedResource: MSH:D014917][accessDate: 05-04-2011] DOID:1116 GeneRIF:12220988 GeneRIF:12464013 GeneRIF:12946329 GeneRIF:15341649 GeneRIF:15716435 GeneRIF:15845471 GeneRIF:16239529 ICD9:033.0 Infection due to Bordetella pertussis Infection due to Bordetella pertussis[accessedResource: SNOMEDCT:27836007][accessDate: 05-04-2011] James Malone MSH:D014917 Pertusses Pertusses[accessedResource: MSH:D014917][accessDate: 05-04-2011] Pertussis Pertussis (disorder) Pertussis (disorder)[accessedResource: SNOMEDCT:27836007][accessDate: 05-04-2011] Pertussis[accessedResource: MSH:D014917][accessDate: 05-04-2011] SNOMEDCT:27836007 WC - Whooping cough WC - Whooping cough[accessedResource: DOID:1116][accessDate: 05-04-2011] Whooping cough NOS (disorder) Whooping cough due to B. pertussis Whooping cough due to bordetella pertussis [B. pertussis] Whooping cough due to bordetella pertussis [B. pertussis][accessedResource: ICD9:033.0][accessDate: 05-04-2011] Whooping cough due to unspecified organism Whooping cough, NOS Whooping cough, NOS[accessedResource: SNOMEDCT:27836007][accessDate: 05-04-2011] Whooping cough, unspecified (disorder) Whooping cough, unspecified organism bordetella infection bordetella infection[accessedResource: DOID:1116][accessDate: 05-04-2011] pertussis phenotype James Malone Jie Zheng MO_192 NIFSTD:birnlex_2087 The observable form taken by some character (or group of characters) in an individual or an organism, excluding pathology and disease. The detectable outward manifestations of a specific genotype. Tomasz Adamusiak obsolete_phenotypic factor phenotype is synonymous with quality true phyllodes tumor A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors. A benign, borderline, or malignant fibroepithelial neoplasm arising from the breast and rarely the prostate gland. It may recur following resection. The recurrence rates are higher for borderline and malignant phyllodes tumors. In borderline and malignant phyllodes tumors metastases to distant anatomic sites can occur. The incidence of metastases is higher in malignant phyllodes tumors.[accessedResource: NCIt:C2977][accessDate: 05-04-2011] A type of connective tissue neoplasm arising from intralobular stroma of the BREAST. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known. A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known.[accessedResource: MSH:D003557][accessDate: 05-04-2011] CSP CSP[accessedResource: NCIt:C2977][accessDate: 05-04-2011] Cystosarcoma Phyllodes, Malignant Cystosarcoma Phyllodes, Malignant[accessedResource: MSH:D003557][accessDate: 05-04-2011] Cystosarcoma Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011] Cystosarcoma Phylloides Cystosarcoma Phylloides[accessedResource: MSH:D003557][accessDate: 05-04-2011] Cystosarcoma phyllodes Cystosarcoma phyllodes NOS (morphologic abnormality) Cystosarcoma phyllodes NOS (morphologic abnormality)[accessedResource: DOID:2608][accessDate: 05-04-2011] Cystosarcoma phyllodes, NOS Cystosarcoma phyllodes, NOS[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011] DOID:2608 GeneRIF:15044924 James Malone MSH:D003557 Malignant Cystosarcoma Phyllodes Malignant Cystosarcoma Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011] NCIt:C2977 Phyllodes Neoplasm Phyllodes Neoplasm[accessedResource: NCIt:C2977][accessDate: 05-04-2011] Phyllodes Tumors Phyllodes Tumors[accessedResource: MSH:D003557][accessDate: 05-04-2011] Phyllodes tumor, NOS Phyllodes tumor, NOS[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011] Phyllodes tumor, borderline Phyllodes tumor, borderline (morphologic abnormality) Phyllodes tumor, borderline (morphologic abnormality)[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011] Phyllodes tumor, borderline[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011] Phyllodes tumour Phyllodes tumour, borderline Phyllodes tumour, borderline[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011] Phyllodes tumour[accessedResource: SNOMEDCT:71232009][accessDate: 05-04-2011] SNOMEDCT:189825002 SNOMEDCT:71232009 Tumor, Phyllodes Tumor, Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011] Tumors, Phyllodes Tumors, Phyllodes[accessedResource: MSH:D003557][accessDate: 05-04-2011] [M]Cystosarcoma phyllodes NOS [M]Cystosarcoma phyllodes NOS (morphologic abnormality) [M]Cystosarcoma phyllodes NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189825002][accessDate: 05-04-2011] [M]Cystosarcoma phyllodes NOS[accessedResource: SNOMEDCT:189825002][accessDate: 05-04-2011] obsolete_platform The specific version (such as manufacturer, model, etc.) of a technology that is used to carry out a laboratory or computational experiment. obsolete platform because the distinction between instrument and platform is very fuzzy true plexiform neurofibroma A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH). A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1 (MeSH).[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011] A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82) A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)[accessedResource: MSH:D018318][accessDate: 05-04-2011] An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.) An elongated and multinodular neurofibroma, formed when the tumor involves either multiple trunks of a plexus or multiple fascicles of a large nerve, such as the sciatic. Some plexiform neurofibromas resemble a bag of worms, others produce a massive ropy enlargement of the nerve. (Adapted from WHO.)[accessedResource: NCIt:C3797][accessDate: 05-04-2011] DOID:5151 Elephantiasis Neuromatoses Elephantiasis Neuromatoses[accessedResource: MSH:D018318][accessDate: 05-04-2011] Elephantiasis Neuromatosis Elephantiasis Neuromatosis[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011] GeneRIF:11857752 GeneRIF:12782393 James Malone MSH:D018318 NCIt:C3797 NIFSTD:birnlex_12606 Neurofibroma, Plexiform Neurofibroma, Plexiform[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011] Neurofibromas, Plexiform Neurofibromas, Plexiform[accessedResource: MSH:D018318][accessDate: 05-04-2011] Neuroma, Plexiform Neuroma, Plexiform[accessedResource: MSH:D018318][accessDate: 05-04-2011] Neuromas, Plexiform Neuromas, Plexiform[accessedResource: MSH:D018318][accessDate: 05-04-2011] Pachydermatocele Pachydermatocele[accessedResource: NIFSTD:birnlex_12606][accessDate: 05-04-2011] Pachydermatoceles Pachydermatoceles[accessedResource: MSH:D018318][accessDate: 05-04-2011] Plexiform Neurofibromas Plexiform Neurofibromas[accessedResource: MSH:D018318][accessDate: 05-04-2011] Plexiform Neuroma Plexiform Neuroma[accessedResource: MSH:D018318][accessDate: 05-04-2011] Plexiform Neuromas Plexiform Neuromas[accessedResource: MSH:D018318][accessDate: 05-04-2011] Plexiform neurofibroma (disorder) Plexiform neurofibroma (disorder)[accessedResource: SNOMEDCT:403818001][accessDate: 05-04-2011] Plexiform neurofibroma (morphologic abnormality) Plexiform neurofibroma (morphologic abnormality)[accessedResource: SNOMEDCT:41252002][accessDate: 05-04-2011] SNOMEDCT:403818001 SNOMEDCT:41252002 Tomasz Adamusiak Tumor Royale Tumor Royale[accessedResource: MSH:D018318][accessDate: 05-04-2011] ploidy James Malone Jie Zheng MO_220 The number of single sets of chromosomes in the cell or an organism e.g., haploid, diploid, triploid, etc. Tomasz Adamusiak haploid, diploid, triploid polycystic ovary syndrome A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading. A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.[accessedResource: MSH:D011085][accessDate: 05-04-2011] Cystic disease of ovaries Cystic disease of ovaries[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011] DOID:11612 GeneRIF:11809921 GeneRIF:12050223 GeneRIF:12161543 GeneRIF:12161545 GeneRIF:12213887 GeneRIF:12364442 GeneRIF:12396555 GeneRIF:12477518 GeneRIF:12502516 GeneRIF:12519859 GeneRIF:12574198 GeneRIF:12615821 GeneRIF:12620441 GeneRIF:12679434 GeneRIF:12727985 GeneRIF:12849814 GeneRIF:12857430 GeneRIF:12857431 GeneRIF:12923129 GeneRIF:14561641 GeneRIF:14602801 GeneRIF:14644808 GeneRIF:14669168 GeneRIF:14671186 GeneRIF:14671189 GeneRIF:14671196 GeneRIF:14671199 GeneRIF:14684846 GeneRIF:14688155 GeneRIF:14715867 GeneRIF:14764797 GeneRIF:14764802 GeneRIF:15010862 GeneRIF:15057670 GeneRIF:15155816 GeneRIF:15178661 GeneRIF:15191349 GeneRIF:15233555 GeneRIF:15240646 GeneRIF:15292352 GeneRIF:15333250 GeneRIF:15374726 GeneRIF:15516780 GeneRIF:15533361 GeneRIF:15533384 GeneRIF:15579759 GeneRIF:15588467 GeneRIF:15598676 GeneRIF:15624269 GeneRIF:15653207 GeneRIF:15695318 GeneRIF:15705377 GeneRIF:15731326 GeneRIF:15757855 GeneRIF:15862282 GeneRIF:15886251 GeneRIF:15926113 GeneRIF:15950642 GeneRIF:15950665 GeneRIF:15985479 GeneRIF:16030171 GeneRIF:16084882 GeneRIF:16159937 GeneRIF:16213847 GeneRIF:16275260 ICD9:256.4 James Malone MSH:D011085 Multicystic ovaries Multicystic ovaries[accessedResource: DOID:11612][accessDate: 05-04-2011] NCIt:C26862 NCIt:C27086 OMIM:184700 Ovarian Degeneration, Sclerocystic Ovarian Degeneration, Sclerocystic[accessedResource: MSH:D011085][accessDate: 05-04-2011] Ovarian Syndrome, Polycystic Ovarian Syndrome, Polycystic[accessedResource: MSH:D011085][accessDate: 05-04-2011] Ovarian Syndromes, Polycystic Ovarian Syndromes, Polycystic[accessedResource: MSH:D011085][accessDate: 05-04-2011] Ovaries, Sclerocystic Ovaries, Sclerocystic[accessedResource: MSH:D011085][accessDate: 05-04-2011] Ovary Syndrome, Polycystic Ovary Syndrome, Polycystic[accessedResource: MSH:D011085][accessDate: 05-04-2011] Ovary, Sclerocystic Ovary, Sclerocystic[accessedResource: MSH:D011085][accessDate: 05-04-2011] PCO - Polycystic ovaries PCO - Polycystic ovaries[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011] PCOD - Polycystic ovarian disease PCOD - Polycystic ovarian disease[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011] PCOS PCOS - Polycystic ovarian syndrome PCOS - Polycystic ovarian syndrome[accessedResource: SNOMEDCT:69878008][accessDate: 05-04-2011] PCOS[accessedResource: DOID:11612][accessDate: 05-04-2011] Polycystic Ovarian Syndrome[accessedResource: MSH:D011085][accessDate: 05-04-2011] Polycystic Ovarian disease[accessedResource: DOID:11612][accessDate: 05-04-2011] Polycystic ovarian disease Polycystic ovarian syndrome Polycystic ovaries Polycystic ovaries (disorder) Polycystic ovaries (disorder)[accessedResource: DOID:11612][accessDate: 05-04-2011] Polycystic ovaries[accessedResource: ICD9:256.4][accessDate: 05-04-2011] SNOMEDCT:69878008 Sclerocystic Ovarian Degeneration Sclerocystic Ovarian Degeneration[accessedResource: MSH:D011085][accessDate: 05-04-2011] Sclerocystic Ovaries Sclerocystic Ovaries[accessedResource: MSH:D011085][accessDate: 05-04-2011] Sclerocystic Ovary Sclerocystic Ovary Syndrome Sclerocystic Ovary Syndrome[accessedResource: MSH:D011085][accessDate: 05-04-2011] Sclerocystic Ovary[accessedResource: MSH:D011085][accessDate: 05-04-2011] Stein Leventhal Syndrome Stein Leventhal Syndrome[accessedResource: MSH:D011085][accessDate: 05-04-2011] Stein-Leventhal Syndrome Stein-Leventhal synd. Stein-Leventhal synd.[accessedResource: DOID:11612][accessDate: 05-04-2011] Stein-Leventhal syndrome[accessedResource: DOID:11612][accessDate: 05-04-2011] Syndrome, Polycystic Ovary Syndrome, Polycystic Ovary[accessedResource: MSH:D011085][accessDate: 05-04-2011] Syndrome, Stein-Leventhal Syndrome, Stein-Leventhal[accessedResource: MSH:D011085][accessDate: 05-04-2011] Tomasz Adamusiak polycystic ovary polycystic ovary[accessedResource: DOID:11612][accessDate: 05-04-2011] true obsolete_polymorphonuclear leukocyte 2.13.1 A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. A fully differentiated eosinophil, a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Cells are also differentiated from other granulocytes by a small nuclear-to-cytoplasm ratio (1:3). This cell type is CD49d-positive. Any fully developed granular leukocyte whose nucleus contains multiple lobes joined by filamentous connections, especially a neutrophil. BTO:0001026 CL_0000041 James Malone Tomasz Adamusiak broad synonym for a number of heamatological cells true polyp A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004 A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.[accessedResource: NCIt:C3340][accessDate: 05-04-2011] DOID:3475 Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base. Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.[accessedResource: MSH:D011127][accessDate: 05-04-2011] GeneRIF:11932925 GeneRIF:12151354 GeneRIF:12218179 GeneRIF:12351556 GeneRIF:12807720 GeneRIF:12841871 GeneRIF:12855642 GeneRIF:12916705 GeneRIF:12970739 GeneRIF:15017003 GeneRIF:15489648 James Malone MSH:D011127 NCIt:C3340 Polyps[accessedResource: MSH:D011127][accessDate: 05-04-2011] polyp (morphologic abnormality) polyps pool A mix of specimens from multiple individuals. James Malone Jie Zheng MO_779 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#pool obsolete_porphyria A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.[accessedResource: MSH:D011164][accessDate: 05-04-2011] DIS PORPHYRIN METABOLISM DIS PORPHYRIN METABOLISM[accessedResource: ICD9:277.1][accessDate: 05-04-2011] DOID:13268 Disorder of porphyrin and haem metabolism Disorder of porphyrin and haem metabolism[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011] Disorder of porphyrin and heme metabolism Disorder of porphyrin and heme metabolism[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011] Disorder of porphyrin metabolism Disorder of porphyrin metabolism, NOS Disorder of porphyrin metabolism, NOS[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011] Disorder of porphyrin metabolism[accessedResource: SNOMEDCT:29094004][accessDate: 05-04-2011] Disorders of porphyrin metabolism Disorders of porphyrin metabolism (disorder) Disorders of porphyrin metabolism[accessedResource: ICD9:277.1][accessDate: 05-04-2011] GeneRIF:16026339 Hematoporphyria Hematoporphyria[accessedResource: DOID:13268][accessDate: 05-04-2011] ICD9:277.1 James Malone MSH:D011164 Porphyria (disorder) Porphyria (disorder)[accessedResource: DOID:13268][accessDate: 05-04-2011] Porphyria NOS Porphyria NOS (disorder) Porphyria NOS (disorder)[accessedResource: SNOMEDCT:190916001][accessDate: 05-04-2011] Porphyria NOS[accessedResource: SNOMEDCT:190916001][accessDate: 05-04-2011] Porphyrias Porphyrias[accessedResource: MSH:D011164][accessDate: 05-04-2011] Porphyrinopathy Porphyrinopathy (disorder) Porphyrinopathy (disorder)[accessedResource: DOID:13268][accessDate: 05-04-2011] Porphyrinopathy[accessedResource: SNOMEDCT:371628009][accessDate: 05-04-2011] SNOMEDCT:190916001 SNOMEDCT:29094004 SNOMEDCT:371628009 disorder of porphyrin and hem metabolism disorder of porphyrin and hem metabolism[accessedResource: DOID:13268][accessDate: 05-04-2011] disorder of porphyrin metabolism (disorder) disorder of porphyrin metabolism (disorder)[accessedResource: DOID:13268][accessDate: 05-04-2011] use 'http://www.orphanet.org/rdfns#pat_id_657' instead. New Label : Porphyria true 2.32 portal hypertension Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN. Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN.[accessedResource: MSH:D006975][accessDate: 05-04-2011] Cruveilhier Baumgarten Syndrome Cruveilhier Baumgarten Syndrome[accessedResource: MSH:D006975][accessDate: 05-04-2011] Cruveilhier-Baumgarten Syndrome Cruveilhier-Baumgarten Syndrome[accessedResource: MSH:D006975][accessDate: 05-04-2011] DOID:10762 GeneRIF:12713865 GeneRIF:12730888 GeneRIF:14525948 GeneRIF:14572769 GeneRIF:14699044 GeneRIF:14990148 GeneRIF:15222038 GeneRIF:15287858 GeneRIF:15513950 GeneRIF:15513955 GeneRIF:15754412 GeneRIF:15849554 Hypertension, Portal Hypertension, Portal[accessedResource: MSH:D006975][accessDate: 05-04-2011] Hypertensions, Portal Hypertensions, Portal[accessedResource: MSH:D006975][accessDate: 05-04-2011] ICD9:572.3 James Malone Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS. Liver cirrhosis with intrahepatic portal obstruction, HYPERTENSION, and patent UMBILICAL VEINS.[accessedResource: MSH:D006975][accessDate: 05-04-2011] MSH:D006975 PHT - Portal hypertension PHT - Portal hypertension[accessedResource: SNOMEDCT:34742003][accessDate: 05-04-2011] Portal Hypertensions Portal Hypertensions[accessedResource: MSH:D006975][accessDate: 05-04-2011] Portal hypertension (disorder) Portal hypertension (disorder)[accessedResource: SNOMEDCT:34742003][accessDate: 05-04-2011] SNOMEDCT:34742003 Syndrome, Cruveilhier-Baumgarten Syndrome, Cruveilhier-Baumgarten[accessedResource: MSH:D006975][accessDate: 05-04-2011] preeclampsia A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease. A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.[accessedResource: MSH:D011225][accessDate: 05-04-2011] A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria. A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.[accessedResource: NCIt:C34943][accessDate: 05-04-2011] DOID:10591 EPH - Edema, proteinuria and hypertension of pregnancy EPH - Edema, proteinuria and hypertension of pregnancy[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] EPH - Oedema, proteinuria and hypertension of pregnancy EPH - Oedema, proteinuria and hypertension of pregnancy[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] EPH Complex EPH Complex[accessedResource: MSH:D011225][accessDate: 05-04-2011] EPH Gestosis EPH Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011] EPH Toxemia EPH Toxemia[accessedResource: MSH:D011225][accessDate: 05-04-2011] EPH Toxemias EPH Toxemias[accessedResource: MSH:D011225][accessDate: 05-04-2011] Edema Proteinuria Hypertension Gestosis Edema Proteinuria Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011] Edema-Proteinuria-Hypertension Gestosis Edema-Proteinuria-Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011] GeneRIF:11854637 GeneRIF:11905404 GeneRIF:11950065 GeneRIF:11969341 GeneRIF:11969342 GeneRIF:12044319 GeneRIF:12104097 GeneRIF:12163461 GeneRIF:12173035 GeneRIF:12324185 GeneRIF:12362237 GeneRIF:12545206 GeneRIF:12593997 GeneRIF:12634647 GeneRIF:12651901 GeneRIF:12654717 GeneRIF:12699878 GeneRIF:12727995 GeneRIF:12757936 GeneRIF:12859429 GeneRIF:12867761 GeneRIF:12867763 GeneRIF:12892901 GeneRIF:12897464 GeneRIF:12908999 GeneRIF:12911547 GeneRIF:14517225 GeneRIF:14605992 GeneRIF:14634568 GeneRIF:14634580 GeneRIF:14638622 GeneRIF:14662163 GeneRIF:14671202 GeneRIF:14671210 GeneRIF:14673478 GeneRIF:14746952 GeneRIF:14967168 GeneRIF:15042014 GeneRIF:15081636 GeneRIF:15082899 GeneRIF:15085177 GeneRIF:15097012 GeneRIF:15097234 GeneRIF:15110896 GeneRIF:15135235 GeneRIF:15140512 GeneRIF:15163465 GeneRIF:15193868 GeneRIF:15364897 GeneRIF:15369653 GeneRIF:15472115 GeneRIF:15501905 GeneRIF:15544427 GeneRIF:15569322 GeneRIF:15585559 GeneRIF:15695771 GeneRIF:15775999 GeneRIF:15784708 GeneRIF:15817508 GeneRIF:15866083 GeneRIF:15886253 GeneRIF:15901845 GeneRIF:15974297 GeneRIF:16021053 GeneRIF:16021077 GeneRIF:16036389 GeneRIF:16059745 GeneRIF:16091310 GeneRIF:16150277 GeneRIF:16157088 GeneRIF:16182107 GeneRIF:16191421 Gestational hypertension Gestational hypertension (disorder) Gestational hypertension (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011] Gestational hypertension[accessedResource: DOID:10591][accessDate: 05-04-2011] Gestosis, EPH Gestosis, EPH[accessedResource: MSH:D011225][accessDate: 05-04-2011] Gestosis, Edema-Proteinuria-Hypertension Gestosis, Edema-Proteinuria-Hypertension[accessedResource: MSH:D011225][accessDate: 05-04-2011] Gestosis, Hypertension-Edema-Proteinuria Gestosis, Hypertension-Edema-Proteinuria[accessedResource: MSH:D011225][accessDate: 05-04-2011] Gestosis, Proteinuria-Edema-Hypertension Gestosis, Proteinuria-Edema-Hypertension[accessedResource: MSH:D011225][accessDate: 05-04-2011] Hypertension Edema Proteinuria Gestosis Hypertension Edema Proteinuria Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011] Hypertension-Edema-Proteinuria Gestosis Hypertension-Edema-Proteinuria Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011] James Malone MSH:D011225 NCIt:C34943 OMIM:189800 PE - Pre-eclampsia PE - Pre-eclampsia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] PET - Pre-eclamptic toxaemia PET - Pre-eclamptic toxaemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] PET - Pre-eclamptic toxemia PET - Pre-eclamptic toxemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] PREECLAMPSIA/ECLAMPSIA PREECLAMPSIA/ECLAMPSIA[accessedResource: DOID:10591][accessDate: 05-04-2011] PREGN TOXEMIAS PREGN TOXEMIAS[accessedResource: MSH:D011225][accessDate: 05-04-2011] Pre Eclampsia Pre Eclampsia[accessedResource: MSH:D011225][accessDate: 05-04-2011] Pre-Eclampsia Pre-Eclampsia[accessedResource: MSH:D011225][accessDate: 05-04-2011] Pre-eclampsia (disorder) Pre-eclampsia (disorder)[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] Pre-eclampsia NOS Pre-eclampsia NOS (disorder) Pre-eclampsia NOS (disorder)[accessedResource: SNOMEDCT:288201007][accessDate: 05-04-2011] Pre-eclampsia NOS[accessedResource: DOID:10591][accessDate: 05-04-2011] Pre-eclampsia, unspecified Pre-eclampsia, unspecified[accessedResource: SNOMEDCT:288201007][accessDate: 05-04-2011] Pre-eclamptic NOS Pre-eclamptic NOS[accessedResource: DOID:10591][accessDate: 05-04-2011] Pre-eclamptic toxaemia Pre-eclamptic toxaemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] Pre-eclamptic toxemia Pre-eclamptic toxemia[accessedResource: SNOMEDCT:398254007][accessDate: 05-04-2011] Pregnancy Toxemia Pregnancy Toxemia[accessedResource: MSH:D011225][accessDate: 05-04-2011] Pregnancy Toxemias Pregnancy Toxemias[accessedResource: MSH:D011225][accessDate: 05-04-2011] Pregnancy associated hypertension Pregnancy associated hypertension[accessedResource: DOID:10591][accessDate: 05-04-2011] Pregnancy-induced hypertension (disorder) Pregnancy-induced hypertension (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011] Proteinuria Edema Hypertension Gestosis Proteinuria Edema Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011] Proteinuria-Edema-Hypertension Gestosis Proteinuria-Edema-Hypertension Gestosis[accessedResource: MSH:D011225][accessDate: 05-04-2011] Proteinuric hypertension of pregnancy Proteinuric hypertension of pregnancy[accessedResource: DOID:10591][accessDate: 05-04-2011] SNOMEDCT:15394000 SNOMEDCT:237280005 SNOMEDCT:288201007 SNOMEDCT:398254007 Tomasz Adamusiak Toxaemia NOS Toxaemia NOS[accessedResource: DOID:10591][accessDate: 05-04-2011] Toxaemia of pregnancy Toxaemia of pregnancy, NOS Toxaemia of pregnancy, NOS[accessedResource: SNOMEDCT:15394000][accessDate: 05-04-2011] Toxaemia of pregnancy[accessedResource: DOID:10591][accessDate: 05-04-2011] Toxemia Toxemia NOS Toxemia NOS (disorder) Toxemia NOS (disorder)[accessedResource: SNOMEDCT:237280005][accessDate: 05-04-2011] Toxemia NOS[accessedResource: SNOMEDCT:237280005][accessDate: 05-04-2011] Toxemia of Pregnancy Toxemia of pregnancy (disorder) Toxemia of pregnancy (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011] Toxemia of pregnancy, NOS Toxemia of pregnancy, NOS[accessedResource: SNOMEDCT:15394000][accessDate: 05-04-2011] Toxemia of pregnancy[accessedResource: SNOMEDCT:15394000][accessDate: 05-04-2011] Toxemia, EPH Toxemia, EPH[accessedResource: MSH:D011225][accessDate: 05-04-2011] Toxemia, Pregnancy Toxemia, Pregnancy[accessedResource: MSH:D011225][accessDate: 05-04-2011] Toxemia[accessedResource: NCIt:C34943][accessDate: 05-04-2011] Toxemias, EPH Toxemias, EPH[accessedResource: MSH:D011225][accessDate: 05-04-2011] Toxemias, Pregnancy Toxemias, Pregnancy[accessedResource: MSH:D011225][accessDate: 05-04-2011] hypertension induced by pregnancy hypertension induced by pregnancy[accessedResource: DOID:10591][accessDate: 05-04-2011] hypertension of preg. hypertension of preg.[accessedResource: DOID:10591][accessDate: 05-04-2011] hypertension of pregnancy NOS hypertension of pregnancy NOS (disorder) hypertension of pregnancy NOS (disorder)[accessedResource: DOID:10591][accessDate: 05-04-2011] hypertension of pregnancy NOS[accessedResource: DOID:10591][accessDate: 05-04-2011] obsolete_pretreatment true obsolete_progeria syndrome A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis. A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.[accessedResource: NCIt:C34951][accessDate: 05-04-2011] An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA. An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.[accessedResource: MSH:D011371][accessDate: 05-04-2011] DOID:3911 GeneRIF:12702809 GeneRIF:12714972 GeneRIF:12735900 GeneRIF:12768443 GeneRIF:15342704 GeneRIF:15608054 HGPS HGPS[accessedResource: DOID:3911][accessDate: 05-04-2011] Hutchinson Gilford Syndrome[accessedResource: MSH:D011371][accessDate: 05-04-2011] Hutchinson Gilford syndrome Hutchinson-Gilford Disease Hutchinson-Gilford Progeria Syndrome[accessedResource: NCIt:C34951][accessDate: 05-04-2011] Hutchinson-Gilford Progeria syndrome Hutchinson-Gilford Syndrome Hutchinson-Gilford disease[accessedResource: DOID:3911][accessDate: 05-04-2011] Hutchinson-Gilford syndrome (disorder) Hutchinson-Gilford syndrome (disorder)[accessedResource: SNOMEDCT:238870004][accessDate: 05-04-2011] Hutchinson-Gilford syndrome[accessedResource: SNOMEDCT:238870004][accessDate: 05-04-2011] James Malone MSH:D011371 NCIt:C34951 OMIM:176670 Premature senility syndrome Premature senility syndrome[accessedResource: SNOMEDCT:238870004][accessDate: 05-04-2011] Progeria Progeria (disorder) Progeria (disorder)[accessedResource: DOID:3911][accessDate: 05-04-2011] Progeria syndrome (disorder) [Ambiguous] Progeria syndrome (disorder) [Ambiguous][accessedResource: DOID:3911][accessDate: 05-04-2011] SNOMEDCT:238870004 Syndrome, Hutchinson-Gilford Syndrome, Hutchinson-Gilford[accessedResource: MSH:D011371][accessDate: 05-04-2011] Tomasz Adamusiak progeria[accessedResource: DOID:3911][accessDate: 05-04-2011] 2.32 use 'http://www.orphanet.org/rdfns#pat_id_2670' instead. New Label : Hutchinson-Gilford progeria syndrome true prognostic subgroup A population in which a grouping of subjects in some study grouped on the basis of the probable outcome of some disease e.g. by gene expression, by physiological indicators etc James Malone prostate adenocarcinoma Adenocarcinoma of prostate (disorder) Adenocarcinoma of prostate (disorder)[accessedResource: SNOMEDCT:399490008][accessDate: 05-04-2011] Adenocarcinoma of the Prostate Adenocarcinoma of the Prostate[accessedResource: NCIt:C2919][accessDate: 05-04-2011] An adenocarcinoma arising from the prostate gland. It is one of the most common malignant tumors afflicting men. The majority of adenocarcinomas arise in the peripheral zone and a minority occurs in the central or the transitional zone of the prostate gland. Grading of prostatic adenocarcinoma predicts disease progression and correlates with survival. Several grading systems have been proposed, of which the Gleason system is the most commonly used. Gleason sums of 2 to 4 represent well-differentiated disease, 5 to 7 moderately differentiated disease and 8 to 10 poorly differentiated disease. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic adenocarcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease. An adenocarcinoma arising from the prostate gland. It is one of the most common malignant tumors afflicting men. The majority of adenocarcinomas arise in the peripheral zone and a minority occurs in the central or the transitional zone of the prostate gland. Grading of prostatic adenocarcinoma predicts disease progression and correlates with survival. Several grading systems have been proposed, of which the Gleason system is the most commonly used. Gleason sums of 2 to 4 represent well-differentiated disease, 5 to 7 moderately differentiated disease and 8 to 10 poorly differentiated disease. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic adenocarcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.[accessedResource: NCIt:C2919][accessDate: 05-04-2011] Cancer of Prostate Cancer of Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011] Cancer of the Prostate Cancer of the Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011] Cancer, Prostate Cancer, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011] Cancer, Prostatic Cancer, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011] Cancers, Prostate Cancers, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011] Cancers, Prostatic Cancers, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011] DOID:2526 GeneRIF:11023533 GeneRIF:11550208 GeneRIF:11790779 GeneRIF:11813207 GeneRIF:12115574 GeneRIF:12433721 GeneRIF:12664577 GeneRIF:12865322 GeneRIF:14559809 GeneRIF:14612932 GeneRIF:15041704 GeneRIF:15073126 GeneRIF:15131044 GeneRIF:15138198 GeneRIF:15146458 GeneRIF:15256061 GeneRIF:15381379 GeneRIF:15609334 GeneRIF:15665279 GeneRIF:15994952 GeneRIF:16324197 James Malone MSH:D011471 NCIt:C2919 NEOPL PROSTATE NEOPL PROSTATE[accessedResource: MSH:D011471][accessDate: 05-04-2011] NEOPL PROSTATIC NEOPL PROSTATIC[accessedResource: MSH:D011471][accessDate: 05-04-2011] Neoplasm, Prostate Neoplasm, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011] Neoplasm, Prostatic Neoplasm, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011] Neoplasms, Prostate Neoplasms, Prostate[accessedResource: MSH:D011471][accessDate: 05-04-2011] Neoplasms, Prostatic Neoplasms, Prostatic[accessedResource: MSH:D011471][accessDate: 05-04-2011] OMIM:176807 PROSTATE NEOPL PROSTATE NEOPL[accessedResource: MSH:D011471][accessDate: 05-04-2011] PROSTATIC NEOPL PROSTATIC NEOPL[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostate Cancer Prostate Cancer[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostate Cancers Prostate Cancers[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostate Neoplasm Prostate Neoplasm[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostate Neoplasms Prostate Neoplasms[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostatic Cancer Prostatic Cancer[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostatic Cancers Prostatic Cancers[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostatic Neoplasm Prostatic Neoplasm[accessedResource: MSH:D011471][accessDate: 05-04-2011] Prostatic Neoplasms Prostatic Neoplasms[accessedResource: MSH:D011471][accessDate: 05-04-2011] SNOMEDCT:399490008 Tomasz Adamusiak Tumors or cancer of the PROSTATE. Tumors or cancer of the PROSTATE.[accessedResource: MSH:D011471][accessDate: 05-04-2011] adenocarcinoma of prostate adenocarcinoma of prostate[accessedResource: DOID:2526][accessDate: 05-04-2011] true obsolete_protocol Merged plan specification and protocol and made synonymous hence this class is redundant. true obsolete_protocol factor A protocol factor is an experimental factor which describes factors that describe the protocol design of an experiment. James Malone synonymous with protocol true psoriasis A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis. A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.[accessedResource: MSH:D011565][accessDate: 05-04-2011] DOID:8893 ICD9:696 ICD9:696.1 ICD9:696.5 ICD9:696.8 James Malone MSH:D011565 OTHER PSORIASIS OTHER PSORIASIS[accessedResource: ICD9:696.1][accessDate: 05-04-2011] Other and unspecified pityriasis Other and unspecified pityriasis[accessedResource: ICD9:696.5][accessDate: 05-04-2011] Other psoriasis and similar disorders Other psoriasis and similar disorders (disorder) Other psoriasis and similar disorders (disorder)[accessedResource: SNOMEDCT:200996000][accessDate: 05-04-2011] Other psoriasis and similar disorders excluding psoriatic arthropathy Other psoriasis and similar disorders excluding psoriatic arthropathy[accessedResource: ICD9:696.1][accessDate: 05-04-2011] Other psoriasis and similar disorders[accessedResource: SNOMEDCT:200996000][accessDate: 05-04-2011] PITYRIASIS NEC & NOS PITYRIASIS NEC & NOS[accessedResource: ICD9:696.5][accessDate: 05-04-2011] PSORIAS RELATED DIS NEC PSORIAS RELATED DIS NEC[accessedResource: ICD9:696.8][accessDate: 05-04-2011] PUSTULAR PSORIASIS OF PALMS SOLES PUSTULAR PSORIASIS OF PALMS SOLES[accessedResource: MSH:D011565][accessDate: 05-04-2011] PUSTULOSIS OF PALMS SOLES PUSTULOSIS OF PALMS SOLES[accessedResource: MSH:D011565][accessDate: 05-04-2011] Palmoplantaris Pustulosis Palmoplantaris Pustulosis[accessedResource: MSH:D011565][accessDate: 05-04-2011] Psoriases Psoriases[accessedResource: MSH:D011565][accessDate: 05-04-2011] Psoriasis and similar disorders Psoriasis and similar disorders (disorder) Psoriasis and similar disorders (disorder)[accessedResource: SNOMEDCT:200955003][accessDate: 05-04-2011] Psoriasis and similar disorders (navigational concept) Psoriasis and similar disorders (navigational concept)[accessedResource: SNOMEDCT:200955003][accessDate: 05-04-2011] Psoriasis and similar disorders NOS Psoriasis and similar disorders NOS (disorder) Psoriasis and similar disorders NOS (disorder)[accessedResource: SNOMEDCT:200997009][accessDate: 05-04-2011] Psoriasis and similar disorders NOS[accessedResource: SNOMEDCT:200997009][accessDate: 05-04-2011] Psoriasis and similar disorders[accessedResource: ICD9:696][accessDate: 05-04-2011] Pustular Psoriasis of Palms and Soles Pustular Psoriasis of Palms and Soles[accessedResource: MSH:D011565][accessDate: 05-04-2011] Pustulosis Palmaris et Plantaris Pustulosis Palmaris et Plantaris[accessedResource: MSH:D011565][accessDate: 05-04-2011] Pustulosis of Palms and Soles Pustulosis of Palms and Soles[accessedResource: MSH:D011565][accessDate: 05-04-2011] SNOMEDCT:200955003 SNOMEDCT:200996000 SNOMEDCT:200997009 Tomasz Adamusiak true mental or behavioural disorder Behavior Disorder Behavior Disorder[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011] Brief Reactive Psychoses Brief Reactive Psychoses[accessedResource: MSH:D011618][accessDate: 05-04-2011] Brief Reactive Psychosis Brief Reactive Psychosis[accessedResource: MSH:D011618][accessDate: 05-04-2011] Disorder, Psychotic Disorder, Psychotic[accessedResource: MSH:D011618][accessDate: 05-04-2011] Disorder, Schizoaffective Disorder, Schizoaffective[accessedResource: MSH:D011618][accessDate: 05-04-2011] Disorder, Schizophreniform Disorder, Schizophreniform[accessedResource: MSH:D011618][accessDate: 05-04-2011] Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994) Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)[accessedResource: MSH:D011618][accessDate: 05-04-2011] Disorders, Psychotic Disorders, Psychotic[accessedResource: MSH:D011618][accessDate: 05-04-2011] Disorders, Schizoaffective Disorders, Schizoaffective[accessedResource: MSH:D011618][accessDate: 05-04-2011] Disorders, Schizophreniform Disorders, Schizophreniform[accessedResource: MSH:D011618][accessDate: 05-04-2011] James Malone MSH:D011618 Mental Disorder Mental Disorder[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011] NIFSTD:birnlex_12669 PSYCHOTIC DIS PSYCHOTIC DIS[accessedResource: MSH:D011618][accessDate: 05-04-2011] Psychiatric Disorder Psychiatric Disorder[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011] Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH). Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH).[accessedResource: NIFSTD:birnlex_12669][accessDate: 05-04-2011] Psychoses Psychoses, Brief Reactive Psychoses, Brief Reactive[accessedResource: MSH:D011618][accessDate: 05-04-2011] Psychoses[accessedResource: MSH:D011618][accessDate: 05-04-2011] Psychosis, Brief Reactive Psychosis, Brief Reactive[accessedResource: MSH:D011618][accessDate: 05-04-2011] Psychotic Disorder Psychotic Disorder[accessedResource: MSH:D011618][accessDate: 05-04-2011] Psychotic Disorders Psychotic Disorders[accessedResource: MSH:D011618][accessDate: 05-04-2011] Reactive Psychoses, Brief Reactive Psychoses, Brief[accessedResource: MSH:D011618][accessDate: 05-04-2011] Reactive Psychosis, Brief Reactive Psychosis, Brief[accessedResource: MSH:D011618][accessDate: 05-04-2011] SCHIZOAFFECTIVE DIS SCHIZOAFFECTIVE DIS[accessedResource: MSH:D011618][accessDate: 05-04-2011] SCHIZOPHRENIFORM DIS SCHIZOPHRENIFORM DIS[accessedResource: MSH:D011618][accessDate: 05-04-2011] Schizoaffective Disorder Schizoaffective Disorder[accessedResource: MSH:D011618][accessDate: 05-04-2011] Schizoaffective Disorders Schizoaffective Disorders[accessedResource: MSH:D011618][accessDate: 05-04-2011] Schizophreniform Disorder Schizophreniform Disorder[accessedResource: MSH:D011618][accessDate: 05-04-2011] Schizophreniform Disorders Schizophreniform Disorders[accessedResource: MSH:D011618][accessDate: 05-04-2011] Tomasz Adamusiak mental disorders true pterygium An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed) An abnormal triangular fold of membrane in the interpalpebral fissure, extending from the conjunctiva to the cornea, being immovably united to the cornea at its apex, firmly attached to the sclera throughout its middle portion, and merged with the conjunctiva at its base. (Dorland, 27th ed)[accessedResource: MSH:D011625][accessDate: 05-04-2011] Conjunctival Pterygium DOID:10526 GeneRIF:12827055 GeneRIF:14533030 GeneRIF:15273656 GeneRIF:15523624 ICD9:372.4 ICD9:372.40 James Malone MSH:D011625 Pterygium (disorder) Pterygium (disorder)[accessedResource: SNOMEDCT:77489003][accessDate: 05-04-2011] Pterygium NOS Pterygium NOS (disorder) Pterygium NOS (disorder)[accessedResource: SNOMEDCT:193884009][accessDate: 05-04-2011] Pterygium NOS[accessedResource: SNOMEDCT:193884009][accessDate: 05-04-2011] Pterygium, NOS Pterygium, NOS[accessedResource: SNOMEDCT:77489003][accessDate: 05-04-2011] Pterygium, unspecified Pterygium, unspecified[accessedResource: DOID:10526][accessDate: 05-04-2011] Pterygiums Pterygiums[accessedResource: MSH:D011625][accessDate: 05-04-2011] SNOMEDCT:193879003 SNOMEDCT:193884009 SNOMEDCT:77489003 Unspecified pterygium Unspecified pterygium (disorder) Unspecified pterygium (disorder)[accessedResource: SNOMEDCT:193879003][accessDate: 05-04-2011] Unspecified pterygium[accessedResource: SNOMEDCT:193879003][accessDate: 05-04-2011] Web eye Web eye[accessedResource: SNOMEDCT:77489003][accessDate: 05-04-2011] conjunctival pterygium[accessedResource: DOID:10526][accessDate: 05-04-2011] obsolete_rat strain 2.0.1 James Malone NIFSTD:birnlex_203 Strain or line specific to rat. Tomasz Adamusiak consolodation of strain with taxon. rat strain subclasses moved to subclasses of rattus true renal cell carcinoma A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy. A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.[accessedResource: NCIt:C9385][accessDate: 05-04-2011] A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.[accessedResource: MSH:D002292][accessDate: 05-04-2011] Adenocarcinoma of Kidney Adenocarcinoma of kidney[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011] Adenocarcinoma of the Kidney Adenocarcinoma of the Kidney[accessedResource: NCIt:C9385][accessDate: 05-04-2011] Adenocarcinoma, Renal Cell Adenocarcinoma, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Adenocarcinomas, Renal Cell Adenocarcinomas, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Cancer, Renal Cell Cancer, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Cancers, Renal Cell Cancers, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma of kidney Carcinoma of kidney[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011] Carcinoma, Collecting Duct (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma, Hypernephroid Carcinoma, Hypernephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma, Nephroid Carcinoma, Nephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma, Renal Cell Carcinoma, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Collecting Duct (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Hypernephroid Carcinomas, Hypernephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Nephroid Carcinomas, Nephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Renal Cell Carcinomas, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Chromophobe Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Clear Cell Renal Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Clear cell carcinoma of kidney (disorder)[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011] Clear cell carcinoma of kidney[accessedResource: SNOMEDCT:254915003][accessDate: 05-04-2011] Collecting Duct Carcinoma (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Collecting Duct Carcinoma of the Kidney[accessedResource: MSH:D002292][accessDate: 05-04-2011] Collecting Duct Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Collecting Duct Carcinomas (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] DOID:4450 Duct Carcinoma, Collecting (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Duct Carcinomas, Collecting (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] GeneRIF:11597145 GeneRIF:11712081 GeneRIF:11714447 GeneRIF:11721640 GeneRIF:11749694 GeneRIF:11759057 GeneRIF:11840338 GeneRIF:11865300 GeneRIF:11896565 GeneRIF:11920465 GeneRIF:11921283 GeneRIF:12016154 GeneRIF:12025227 GeneRIF:12036906 GeneRIF:12115583 GeneRIF:12207901 GeneRIF:12208877 GeneRIF:12209602 GeneRIF:12209956 GeneRIF:12375029 GeneRIF:12402975 GeneRIF:12452054 GeneRIF:12474536 GeneRIF:12496483 GeneRIF:12496484 GeneRIF:12584564 GeneRIF:12594819 GeneRIF:12597245 GeneRIF:12631591 GeneRIF:12640117 GeneRIF:12646256 GeneRIF:12684625 GeneRIF:12692265 GeneRIF:12695553 GeneRIF:12697836 GeneRIF:12707035 GeneRIF:12708469 GeneRIF:12736050 GeneRIF:12750296 GeneRIF:12766581 GeneRIF:12770739 GeneRIF:12781449 GeneRIF:12845675 GeneRIF:12874014 GeneRIF:12893366 GeneRIF:12963978 GeneRIF:12970754 GeneRIF:14517280 GeneRIF:14519627 GeneRIF:14520461 GeneRIF:14534724 GeneRIF:14559244 GeneRIF:14559790 GeneRIF:14565870 GeneRIF:14612902 GeneRIF:14648699 GeneRIF:14663360 GeneRIF:14666709 GeneRIF:14676131 GeneRIF:14693268 GeneRIF:14696115 GeneRIF:14712483 GeneRIF:14981908 GeneRIF:15086466 GeneRIF:15086915 GeneRIF:15102668 GeneRIF:15107966 GeneRIF:15145526 GeneRIF:15198927 GeneRIF:15217953 GeneRIF:15245963 GeneRIF:15247770 GeneRIF:15273700 GeneRIF:15274119 GeneRIF:15285879 GeneRIF:15300849 GeneRIF:15319295 GeneRIF:15350301 GeneRIF:15358199 GeneRIF:15365652 GeneRIF:15375503 GeneRIF:15448019 GeneRIF:15502805 GeneRIF:15569051 GeneRIF:15578072 GeneRIF:15608669 GeneRIF:15661050 GeneRIF:15665272 GeneRIF:15671550 GeneRIF:15701841 GeneRIF:15709180 GeneRIF:15747097 GeneRIF:15780567 GeneRIF:15791570 GeneRIF:15809750 GeneRIF:15826766 GeneRIF:15867365 GeneRIF:15893810 GeneRIF:15900605 GeneRIF:15906349 GeneRIF:15930277 GeneRIF:15945081 GeneRIF:15985433 GeneRIF:15998523 GeneRIF:16015044 GeneRIF:16061872 GeneRIF:16077991 GeneRIF:16145471 GeneRIF:16157291 GeneRIF:16164647 GeneRIF:16210641 GeneRIF:16213477 GeneRIF:16221209 GeneRIF:16237213 GeneRIF:16244585 GeneRIF:16254461 Grawitz Tumor Grawitz tumor[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011] Grawitz tumour Grawitz tumour[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011] Hypernephroid Carcinoma Hypernephroid Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Hypernephroid Carcinomas Hypernephroid Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] Hypernephroma Hypernephroma (disorder) Hypernephroma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Hypernephromas Hypernephromas[accessedResource: MSH:D002292][accessDate: 05-04-2011] James Malone Kidney Adenocarcinoma Kidney Adenocarcinoma[accessedResource: NCIt:C9385][accessDate: 05-04-2011] MSH:D002292 NCIt:C9385 Nephroid Carcinoma Nephroid Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Nephroid Carcinomas Nephroid Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] OMIM:144700 Papillary Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] RCC RCC[accessedResource: DOID:4450][accessDate: 05-04-2011] Renal Cell Adenocarcinoma Renal Cell Adenocarcinoma[accessedResource: NCIt:C9385][accessDate: 05-04-2011] Renal Cell Adenocarcinomas Renal Cell Adenocarcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cell Cancer[accessedResource: NCIt:C9385][accessDate: 05-04-2011] Renal Cell Cancers Renal Cell Cancers[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cell Carcinoma, Stage Unspecified Renal Cell Carcinomas Renal Cell Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Collecting Duct Carcinoma Renal Collecting Duct Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal cell carcinoma (morphologic abnormality) Renal cell carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011] Renal cell carcinoma - morphology Renal cell carcinoma - morphology[accessedResource: SNOMEDCT:41607009][accessDate: 05-04-2011] SNOMEDCT:188251003 SNOMEDCT:254915003 SNOMEDCT:41607009 Sarcomatoid Renal Cell Carcinoma Sarcomatoid Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Tomasz Adamusiak Tumor, Grawitz Tumor, Grawitz[accessedResource: MSH:D002292][accessDate: 05-04-2011] hypernephroma (disorder)[accessedResource: DOID:4450][accessDate: 05-04-2011] renal cell cancer renal cell carcinoma, stage Unspecified[accessedResource: DOID:4450][accessDate: 05-04-2011] true obsolete_renal clear cell carcinoma 1.8 A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common. A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney. Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney. DOID:4467 GeneRIF:12576453 GeneRIF:14550470 GeneRIF:15062033 GeneRIF:15709172 James Malone MSH:D002292 NCIt:C4033 SNOMEDCT:254915003 duplicate of EFO_0000349 (clear cell renal carcinoma) true replicate A role played by a a biological sample in the context of a microarray experiment where the intent is that biological or technical variation is measured. James Malone respiratory system disease A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs. A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs.[accessedResource: DOID:1579][accessDate: 05-04-2011] ALVEOL PNEUMONOPATHY NEC ALVEOL PNEUMONOPATHY NEC[accessedResource: ICD9:516.8][accessDate: 05-04-2011] ALVEOL PNEUMONOPATHY NOS ALVEOL PNEUMONOPATHY NOS[accessedResource: ICD9:516.9][accessDate: 05-04-2011] CHR PUL MANIF D/T RADIAT CHR PUL MANIF D/T RADIAT[accessedResource: ICD9:508.1][accessDate: 05-04-2011] Chronic and other pulmonary manifestations due to radiation Chronic and other pulmonary manifestations due to radiation[accessedResource: ICD9:508.1][accessDate: 05-04-2011] DISEASES OF THE RESPIRATORY SYSTEM DISEASES OF THE RESPIRATORY SYSTEM[accessedResource: ICD9:460-519.99][accessDate: 05-04-2011] DOID:1579 Disease of respiratory system Disease of respiratory system (disorder) Disease of respiratory system (disorder)[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] Disease of respiratory system, NOS Disease of respiratory system, NOS[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] Disease of respiratory system[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] Disorder of respiratory system Disorder of respiratory system (disorder) Disorder of respiratory system (disorder)[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] Disorder of respiratory system[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] ICD9:460-519.99 ICD9:500-508.99 ICD9:503 ICD9:508 ICD9:508.1 ICD9:508.8 ICD9:508.9 ICD9:510-519.99 ICD9:516 ICD9:516.8 ICD9:516.9 ICD9:517 ICD9:517.8 ICD9:519 ICD9:519.1 ICD9:519.3 ICD9:519.8 ICD9:519.9 INORG DUST PNEUMOCON NEC INORG DUST PNEUMOCON NEC[accessedResource: ICD9:503][accessDate: 05-04-2011] James Malone LUNG INVOLV IN OTH DIS LUNG INVOLV IN OTH DIS[accessedResource: ICD9:517.8][accessDate: 05-04-2011] Lung involvement in conditions classified elsewhere Lung involvement in conditions classified elsewhere[accessedResource: ICD9:517][accessDate: 05-04-2011] Lung involvement in other diseases classified elsewhere Lung involvement in other diseases classified elsewhere[accessedResource: ICD9:517.8][accessDate: 05-04-2011] MEDIASTINUM DISEASE NEC MEDIASTINUM DISEASE NEC[accessedResource: ICD9:519.3][accessDate: 05-04-2011] NCIt:C26871 Other alveolar and parietoalveolar pneumonopathy Other alveolar and parietoalveolar pneumonopathy[accessedResource: ICD9:516][accessDate: 05-04-2011] Other diseases of mediastinum, not elsewhere classified Other diseases of mediastinum, not elsewhere classified[accessedResource: ICD9:519.3][accessDate: 05-04-2011] Other diseases of respiratory system Other diseases of respiratory system NOS Other diseases of respiratory system NOS (disorder) Other diseases of respiratory system NOS (disorder)[accessedResource: SNOMEDCT:196184000][accessDate: 05-04-2011] Other diseases of respiratory system NOS[accessedResource: SNOMEDCT:196184000][accessDate: 05-04-2011] Other diseases of respiratory system, not elsewhere classified Other diseases of respiratory system, not elsewhere classified[accessedResource: ICD9:519.8][accessDate: 05-04-2011] Other diseases of respiratory system[accessedResource: ICD9:519][accessDate: 05-04-2011] Other diseases of trachea and bronchus, not elsewhere classified Other diseases of trachea and bronchus, not elsewhere classified[accessedResource: ICD9:519.1][accessDate: 05-04-2011] Other respiratory system diseases Other respiratory system diseases (disorder) Other respiratory system diseases (disorder)[accessedResource: SNOMEDCT:196057004][accessDate: 05-04-2011] Other respiratory system diseases NOS Other respiratory system diseases NOS (disorder) Other respiratory system diseases NOS (disorder)[accessedResource: SNOMEDCT:266373008][accessDate: 05-04-2011] Other respiratory system diseases NOS[accessedResource: SNOMEDCT:266373008][accessDate: 05-04-2011] Other respiratory system diseases[accessedResource: SNOMEDCT:196057004][accessDate: 05-04-2011] Other specified alveolar and parietoalveolar pneumonopathies Other specified alveolar and parietoalveolar pneumonopathies[accessedResource: ICD9:516.8][accessDate: 05-04-2011] PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS[accessedResource: ICD9:500-508.99][accessDate: 05-04-2011] Pneumoconiosis due to other inorganic dust Pneumoconiosis due to other inorganic dust[accessedResource: ICD9:503][accessDate: 05-04-2011] RESP COND: EXT AGENT NEC RESP COND: EXT AGENT NEC[accessedResource: ICD9:508.8][accessDate: 05-04-2011] RESP COND: EXT AGENT NOS RESP COND: EXT AGENT NOS[accessedResource: ICD9:508.9][accessDate: 05-04-2011] RESP SYSTEM DISEASE NEC RESP SYSTEM DISEASE NEC[accessedResource: ICD9:519.8][accessDate: 05-04-2011] RESP SYSTEM DISEASE NOS RESP SYSTEM DISEASE NOS[accessedResource: ICD9:519.9][accessDate: 05-04-2011] Respiratory conditions due to other and unspecified external agents Respiratory conditions due to other and unspecified external agents[accessedResource: ICD9:508][accessDate: 05-04-2011] Respiratory conditions due to other specified external agents Respiratory conditions due to other specified external agents[accessedResource: ICD9:508.8][accessDate: 05-04-2011] Respiratory conditions due to unspecified external agent Respiratory conditions due to unspecified external agent[accessedResource: ICD9:508.9][accessDate: 05-04-2011] Respiratory disease Respiratory disease[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] Respiratory disorder Respiratory disorder, NOS Respiratory disorder, NOS[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] Respiratory disorder[accessedResource: SNOMEDCT:50043002][accessDate: 05-04-2011] Respiratory system diseases NOS Respiratory system diseases NOS (disorder) Respiratory system diseases NOS (disorder)[accessedResource: SNOMEDCT:196185004][accessDate: 05-04-2011] Respiratory system diseases NOS[accessedResource: SNOMEDCT:196185004][accessDate: 05-04-2011] SNOMEDCT:196057004 SNOMEDCT:196184000 SNOMEDCT:196185004 SNOMEDCT:196241007 SNOMEDCT:196243005 SNOMEDCT:196244004 SNOMEDCT:196255004 SNOMEDCT:266373008 SNOMEDCT:50043002 Unspecified alveolar and parietoalveolar pneumonopathy Unspecified alveolar and parietoalveolar pneumonopathy[accessedResource: ICD9:516.9][accessDate: 05-04-2011] Unspecified disease of respiratory system Unspecified disease of respiratory system[accessedResource: ICD9:519.9][accessDate: 05-04-2011] [X]Chronic and other pulmonary manifestations due to radiation [X]Chronic and other pulmonary manifestations due to radiation (disorder) [X]Chronic and other pulmonary manifestations due to radiation (disorder)[accessedResource: SNOMEDCT:196241007][accessDate: 05-04-2011] [X]Chronic and other pulmonary manifestations due to radiation[accessedResource: SNOMEDCT:196241007][accessDate: 05-04-2011] [X]Other diseases of the respiratory system [X]Other diseases of the respiratory system (disorder) [X]Other diseases of the respiratory system (disorder)[accessedResource: SNOMEDCT:196255004][accessDate: 05-04-2011] [X]Other diseases of the respiratory system[accessedResource: SNOMEDCT:196255004][accessDate: 05-04-2011] [X]Respiratory conditions due to other specified external agents [X]Respiratory conditions due to other specified external agents (disorder) [X]Respiratory conditions due to other specified external agents (disorder)[accessedResource: SNOMEDCT:196243005][accessDate: 05-04-2011] [X]Respiratory conditions due to other specified external agents[accessedResource: SNOMEDCT:196243005][accessDate: 05-04-2011] [X]Respiratory conditions due to unspecified external agent [X]Respiratory conditions due to unspecified external agent (disorder) [X]Respiratory conditions due to unspecified external agent (disorder)[accessedResource: SNOMEDCT:196244004][accessDate: 05-04-2011] [X]Respiratory conditions due to unspecified external agent[accessedResource: SNOMEDCT:196244004][accessDate: 05-04-2011] rheumatoid arthritis A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated. A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.[accessedResource: MSH:D001172][accessDate: 05-04-2011] An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint. An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint.[accessedResource: DOID:7148][accessDate: 05-04-2011] Arthritis or polyarthritis, rheumatic Arthritis or polyarthritis, rheumatic[accessedResource: DOID:7148][accessDate: 05-04-2011] Arthritis, Rheumatoid Arthritis, Rheumatoid[accessedResource: MSH:D001172][accessDate: 05-04-2011] Atrophic arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] Chronic rheumatic arthritis Chronic rheumatic arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] DOID:7148 GeneRIF:11294880 GeneRIF:11466388 GeneRIF:11472854 GeneRIF:11708406 GeneRIF:11708408 GeneRIF:11725485 GeneRIF:11733367 GeneRIF:11801682 GeneRIF:11838837 GeneRIF:11856352 GeneRIF:11857065 GeneRIF:11861275 GeneRIF:11881821 GeneRIF:11906819 GeneRIF:11916172 GeneRIF:11920278 GeneRIF:11922198 GeneRIF:11949889 GeneRIF:11961170 GeneRIF:11966773 GeneRIF:11971877 GeneRIF:11983200 GeneRIF:12039073 GeneRIF:12047361 GeneRIF:12054474 GeneRIF:12060849 GeneRIF:12064825 GeneRIF:12067756 GeneRIF:12070776 GeneRIF:12070782 GeneRIF:12089610 GeneRIF:12091338 GeneRIF:12095257 GeneRIF:12097415 GeneRIF:12114257 GeneRIF:12114309 GeneRIF:12115161 GeneRIF:12115177 GeneRIF:12115181 GeneRIF:12119414 GeneRIF:12135431 GeneRIF:12140750 GeneRIF:12165497 GeneRIF:12168808 GeneRIF:12175089 GeneRIF:12183385 GeneRIF:12193472 GeneRIF:12193736 GeneRIF:12208866 GeneRIF:12209506 GeneRIF:12233873 GeneRIF:12233877 GeneRIF:12235453 GeneRIF:12242722 GeneRIF:12374691 GeneRIF:12399463 GeneRIF:12401808 GeneRIF:12413610 GeneRIF:12444174 GeneRIF:12454286 GeneRIF:12465141 GeneRIF:12486608 GeneRIF:12508775 GeneRIF:12508778 GeneRIF:12508786 GeneRIF:12509789 GeneRIF:12517948 GeneRIF:12528108 GeneRIF:12553721 GeneRIF:12564836 GeneRIF:12571842 GeneRIF:12571844 GeneRIF:12574395 GeneRIF:12594835 GeneRIF:12610796 GeneRIF:12610797 GeneRIF:12632415 GeneRIF:12635863 GeneRIF:12643440 GeneRIF:12651614 GeneRIF:12672182 GeneRIF:12684695 GeneRIF:12697270 GeneRIF:12702665 GeneRIF:12705898 GeneRIF:12707342 GeneRIF:12718750 GeneRIF:12723989 GeneRIF:12734884 GeneRIF:12739037 GeneRIF:12739786 GeneRIF:12759455 GeneRIF:12782719 GeneRIF:12784383 GeneRIF:12784384 GeneRIF:12793199 GeneRIF:12808103 GeneRIF:12823854 GeneRIF:12826377 GeneRIF:12833157 GeneRIF:12846052 GeneRIF:12846053 GeneRIF:12846056 GeneRIF:12846065 GeneRIF:12847274 GeneRIF:12847280 GeneRIF:12847677 GeneRIF:12847680 GeneRIF:12847682 GeneRIF:12847683 GeneRIF:12858434 GeneRIF:12870871 GeneRIF:12879272 GeneRIF:12905469 GeneRIF:12913922 GeneRIF:12913925 GeneRIF:12913926 GeneRIF:12913938 GeneRIF:12928381 GeneRIF:12937131 GeneRIF:12966588 GeneRIF:13130464 GeneRIF:14505215 GeneRIF:14532992 GeneRIF:14558082 GeneRIF:14558083 GeneRIF:14558087 GeneRIF:14578453 GeneRIF:14608356 GeneRIF:14617033 GeneRIF:14630402 GeneRIF:14647385 GeneRIF:14687710 GeneRIF:14705216 GeneRIF:14707104 GeneRIF:14726963 GeneRIF:14730602 GeneRIF:14734742 GeneRIF:14749527 GeneRIF:14749980 GeneRIF:14872281 GeneRIF:14872483 GeneRIF:14976209 GeneRIF:14979058 GeneRIF:14984939 GeneRIF:14991531 GeneRIF:14994383 GeneRIF:14994386 GeneRIF:15007027 GeneRIF:15022314 GeneRIF:15022315 GeneRIF:15022318 GeneRIF:15022325 GeneRIF:15022344 GeneRIF:15031666 GeneRIF:15045639 GeneRIF:15077293 GeneRIF:15077295 GeneRIF:15077296 GeneRIF:15077297 GeneRIF:15083890 GeneRIF:15146411 GeneRIF:15146412 GeneRIF:15146416 GeneRIF:15163116 GeneRIF:15167967 GeneRIF:15170913 GeneRIF:15170914 GeneRIF:15184985 GeneRIF:15188353 GeneRIF:15188357 GeneRIF:15205567 GeneRIF:15208781 GeneRIF:15241467 GeneRIF:15248212 GeneRIF:15254248 GeneRIF:15259375 GeneRIF:15272075 GeneRIF:15284119 GeneRIF:15290725 GeneRIF:15290728 GeneRIF:15290745 GeneRIF:15313475 GeneRIF:15325803 GeneRIF:15338479 GeneRIF:15381082 GeneRIF:15389525 GeneRIF:15457442 GeneRIF:15457444 GeneRIF:15457447 GeneRIF:15457473 GeneRIF:15464974 GeneRIF:15470519 GeneRIF:15515123 GeneRIF:15517620 GeneRIF:15529384 GeneRIF:15535837 GeneRIF:15569925 GeneRIF:15591039 GeneRIF:15593216 GeneRIF:15603867 GeneRIF:15632153 GeneRIF:15634264 GeneRIF:15638044 GeneRIF:15641039 GeneRIF:15641066 GeneRIF:15641073 GeneRIF:15641088 GeneRIF:15723199 GeneRIF:15725578 GeneRIF:15742432 GeneRIF:15743888 GeneRIF:15751070 GeneRIF:15753214 GeneRIF:15759013 GeneRIF:15761492 GeneRIF:15794197 GeneRIF:15794198 GeneRIF:15841095 GeneRIF:15850806 GeneRIF:15859024 GeneRIF:15875058 GeneRIF:15877293 GeneRIF:15879144 GeneRIF:15890884 GeneRIF:15896202 GeneRIF:15934099 GeneRIF:15940757 GeneRIF:15950180 GeneRIF:15959531 GeneRIF:15967793 GeneRIF:15971427 GeneRIF:15986374 GeneRIF:16002730 GeneRIF:16014623 GeneRIF:16014635 GeneRIF:16038875 GeneRIF:16052590 GeneRIF:16098099 GeneRIF:16107870 GeneRIF:16127156 GeneRIF:16134725 GeneRIF:16142859 GeneRIF:16151416 GeneRIF:16175503 GeneRIF:16192646 GeneRIF:16200580 GeneRIF:16200584 GeneRIF:16200608 GeneRIF:16215318 GeneRIF:16287870 GeneRIF:16288117 GeneRIF:16320327 GeneRIF:16329077 GeneRIF:16366416 ICD9:714.0 James Malone MSH:D001172 NCIt:C27206 NCIt:C2884 OMIM:180300 Proliferative arthritis Proliferative arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] RA - Rheumatoid arthritis RA - Rheumatoid arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] RhA - Rheumatoid arthritis RhA - Rheumatoid arthritis[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] Rheumatic gout Rheumatic gout[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] Rheumatoid arthritis (disorder) Rheumatoid arthritis (disorder)[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] Rheumatoid arthritis NOS Rheumatoid arthritis NOS (disorder) Rheumatoid arthritis NOS (disorder)[accessedResource: SNOMEDCT:287010008][accessDate: 05-04-2011] Rheumatoid arthritis NOS[accessedResource: SNOMEDCT:287010008][accessDate: 05-04-2011] Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints. Rheumatoid disease Rheumatoid disease[accessedResource: SNOMEDCT:69896004][accessDate: 05-04-2011] SNOMEDCT:287010008 SNOMEDCT:69896004 Tomasz Adamusiak atrophic Arthritis true risk status James Malone The probability that an event will occur generally with unfavorable outcome. obsolete_sample factor synonym with material entity true sampling site A site from which a sample, i.e. a statistically representative of the whole, is extracted from the whole. e.g. a liver sample James Malone sampling time James Malone Jie Zheng MO_866 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#sampling_time_point sampling_time_point sampling_time_point[accessedResource: MO_866][accessDate: 05-04-2011] obsolete_sarcoidosis An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin. An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin.[accessedResource: NCIt:C34995][accessDate: 05-04-2011] An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands. An idiopathic systemic inflammatory granulomatous disorder comprised of epithelioid and multinucleated giant cells with little necrosis. It usually invades the lungs with fibrosis and may also involve lymph nodes, skin, liver, spleen, eyes, phalangeal bones, and parotid glands.[accessedResource: MSH:D012507][accessDate: 05-04-2011] BESNIER BOECK DIS BESNIER BOECK DIS[accessedResource: MSH:D012507][accessDate: 05-04-2011] Benign lymphogranulomatosis of Schaumann Benign lymphogranulomatosis of Schaumann[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] Besnier Boeck Disease Besnier Boeck Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011] Besnier Boeck Schaumann Syndrome Besnier Boeck Schaumann Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011] Besnier-Boeck Disease Besnier-Boeck Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011] Besnier-Boeck-Schaumann Syndrome Besnier-Boeck-Schaumann Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011] Boeck Disease Boeck Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011] Boeck Sarcoid Boeck Sarcoid, any site Boeck Sarcoid, any site[accessedResource: DOID:11335][accessDate: 05-04-2011] Boeck Sarcoid[accessedResource: MSH:D012507][accessDate: 05-04-2011] Boeck's Disease Boeck's Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011] Boeck's Sarcoid Boeck's Sarcoid[accessedResource: MSH:D012507][accessDate: 05-04-2011] Boeck's sarcoidosis Boeck's sarcoidosis[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] Boecks Disease Boecks Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011] Boecks Sarcoid Boecks Sarcoid[accessedResource: MSH:D012507][accessDate: 05-04-2011] Boecks sarcoidosis Boecks sarcoidosis[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] DOID:11335 Darier-Roussy sarcoid Darier-Roussy sarcoid[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] Disease, Schaumann Disease, Schaumann[accessedResource: MSH:D012507][accessDate: 05-04-2011] GeneRIF:12039524 GeneRIF:12047365 GeneRIF:12068984 GeneRIF:12091241 GeneRIF:12180727 GeneRIF:12366781 GeneRIF:12413001 GeneRIF:14508706 GeneRIF:14551164 GeneRIF:14597055 GeneRIF:14601651 GeneRIF:15004750 GeneRIF:15019280 GeneRIF:15083893 GeneRIF:15332393 GeneRIF:15459013 GeneRIF:15702130 GeneRIF:15713215 GeneRIF:15735647 GeneRIF:15750046 GeneRIF:15942292 GeneRIF:15976369 GeneRIF:16053025 GeneRIF:16053028 GeneRIF:16236915 ICD9:135 James Malone Lupus pernio of Besnier Lupus pernio of Besnier[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] MSH:D012507 Miliary lupoid of Boeck Miliary lupoid of Boeck[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] NCIt:C34995 OMIM:181000 SCHAUMANN DIS SCHAUMANN DIS[accessedResource: MSH:D012507][accessDate: 05-04-2011] SNOMEDCT:31541009 Sarcoid, Boeck's Sarcoid, Boeck's[accessedResource: MSH:D012507][accessDate: 05-04-2011] Sarcoidoses Sarcoidoses[accessedResource: MSH:D012507][accessDate: 05-04-2011] Sarcoidosis (disorder) Sarcoidosis (disorder)[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] Sarcoidosis, NOS Sarcoidosis, NOS[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] Schaumann Disease Schaumann Disease[accessedResource: MSH:D012507][accessDate: 05-04-2011] Schaumann Syndrome Schaumann Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011] Schaumann's Syndrome Schaumann's Syndrome[accessedResource: MSH:D012507][accessDate: 05-04-2011] Schaumann's Syndromes Schaumann's Syndromes[accessedResource: MSH:D012507][accessDate: 05-04-2011] Syndrome, Besnier-Boeck-Schaumann Syndrome, Besnier-Boeck-Schaumann[accessedResource: MSH:D012507][accessDate: 05-04-2011] Syndrome, Schaumann Syndrome, Schaumann's Syndrome, Schaumann's[accessedResource: MSH:D012507][accessDate: 05-04-2011] Syndrome, Schaumann[accessedResource: MSH:D012507][accessDate: 05-04-2011] Tomasz Adamusiak Uveoparotid fever Uveoparotid fever[accessedResource: SNOMEDCT:31541009][accessDate: 05-04-2011] lymphogranulomatosis lymphogranulomatosis[accessedResource: DOID:11335][accessDate: 05-04-2011] sarcoid sarcoid[accessedResource: NCIt:C34995][accessDate: 05-04-2011] true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_735' instead. New Label : Sarcoidosis true sarcoma A cancer that affects connective tissue resulting in mesoderm proliferation. A cancer that affects connective tissue resulting in mesoderm proliferation.[accessedResource: DOID:1115][accessDate: 05-04-2011] A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma. A malignant mesenchymal neoplasm arising exclusively from the soft tissues. Representative examples include soft tissue sarcoma, extraosseous Ewing sarcoma/peripheral primitive neuroectodermal tumor, and malignant hemangiopericytoma.[accessedResource: NCIt:C4867][accessDate: 05-04-2011] A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones. A malignant mesenchymal neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.[accessedResource: NCIt:C9306][accessDate: 05-04-2011] A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma. A usually aggressive malignant mesenchymal cell tumor most commonly arising from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the tumor. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.[accessedResource: NCIt:C9118][accessDate: 05-04-2011] CONNECTIVE SOFT TISSUE NEOPL CONNECTIVE SOFT TISSUE NEOPL[accessedResource: MSH:D018204][accessDate: 05-04-2011] Connective Tissue Sarcoma Connective Tissue Sarcoma[accessedResource: NCIt:C9306][accessDate: 05-04-2011] Connective and Soft Tissue Neoplasms Connective and Soft Tissue Neoplasms[accessedResource: MSH:D018204][accessDate: 05-04-2011] DOID:1115 GeneRIF:11953898 GeneRIF:12112526 GeneRIF:12435619 GeneRIF:12539045 GeneRIF:12610779 GeneRIF:14507652 GeneRIF:14612455 GeneRIF:14710346 GeneRIF:15018431 GeneRIF:15201968 GeneRIF:15710230 GeneRIF:15716602 GeneRIF:15809709 GeneRIF:16154137 GeneRIF:16327442 ICD9:171 ICD9:171.0 ICD9:171.2 ICD9:171.3 ICD9:171.4 ICD9:171.5 ICD9:171.6 ICD9:171.7 ICD9:171.8 ICD9:171.9 James Malone MAL NEO SOFT TIS ABDOMEN MAL NEO SOFT TIS ABDOMEN[accessedResource: ICD9:171.5][accessDate: 05-04-2011] MAL NEO SOFT TIS PELVIS MAL NEO SOFT TIS PELVIS[accessedResource: ICD9:171.6][accessDate: 05-04-2011] MAL NEO SOFT TIS THORAX MAL NEO SOFT TIS THORAX[accessedResource: ICD9:171.4][accessDate: 05-04-2011] MAL NEO SOFT TISSUE ARM MAL NEO SOFT TISSUE ARM[accessedResource: ICD9:171.2][accessDate: 05-04-2011] MAL NEO SOFT TISSUE HEAD MAL NEO SOFT TISSUE HEAD[accessedResource: ICD9:171.0][accessDate: 05-04-2011] MAL NEO SOFT TISSUE LEG MAL NEO SOFT TISSUE LEG[accessedResource: ICD9:171.3][accessDate: 05-04-2011] MAL NEO SOFT TISSUE NEC MAL NEO SOFT TISSUE NEC[accessedResource: ICD9:171.8][accessDate: 05-04-2011] MAL NEO SOFT TISSUE NOS MAL NEO SOFT TISSUE NOS[accessedResource: ICD9:171.9][accessDate: 05-04-2011] MAL NEOPL TRUNK NOS MAL NEOPL TRUNK NOS[accessedResource: ICD9:171.7][accessDate: 05-04-2011] MSH:D018204 Malignant Neoplasm of Soft Tissue Malignant Neoplasm of Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011] Malignant Neoplasm of the Soft Tissue Malignant Neoplasm of the Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011] Malignant Soft Tissue Neoplasm Malignant Soft Tissue Neoplasm[accessedResource: NCIt:C4867][accessDate: 05-04-2011] Malignant Soft Tissue Tumor Malignant Soft Tissue Tumor[accessedResource: NCIt:C4867][accessDate: 05-04-2011] Malignant Tumor of Soft Tissue Malignant Tumor of Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011] Malignant Tumor of the Soft Tissue Malignant Tumor of the Soft Tissue[accessedResource: NCIt:C4867][accessDate: 05-04-2011] Malignant mesenchymal tumor Malignant mesenchymal tumor[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Malignant mesenchymal tumour Malignant mesenchymal tumour[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue Malignant neoplasm of connective and other soft tissue (disorder) Malignant neoplasm of connective and other soft tissue (disorder)[accessedResource: SNOMEDCT:187985009][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue of abdomen Malignant neoplasm of connective and other soft tissue of abdomen[accessedResource: ICD9:171.5][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue of head, face, and neck Malignant neoplasm of connective and other soft tissue of head, face, and neck[accessedResource: ICD9:171.0][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue of lower limb, including hip Malignant neoplasm of connective and other soft tissue of lower limb, including hip[accessedResource: ICD9:171.3][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue of pelvis Malignant neoplasm of connective and other soft tissue of pelvis[accessedResource: ICD9:171.6][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue of thorax Malignant neoplasm of connective and other soft tissue of thorax[accessedResource: ICD9:171.4][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue of trunk, unspecified Malignant neoplasm of connective and other soft tissue of trunk, unspecified[accessedResource: ICD9:171.7][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue of upper limb, including shoulder Malignant neoplasm of connective and other soft tissue of upper limb, including shoulder[accessedResource: ICD9:171.2][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue, site unspecified Malignant neoplasm of connective and other soft tissue, site unspecified[accessedResource: ICD9:171.9][accessDate: 05-04-2011] Malignant neoplasm of connective and other soft tissue[accessedResource: ICD9:171][accessDate: 05-04-2011] Malignant neoplasm of other specified sites of connective and other soft tissue Malignant neoplasm of other specified sites of connective and other soft tissue[accessedResource: ICD9:171.8][accessDate: 05-04-2011] Malignant neoplasm of soft tissue (disorder) Malignant neoplasm of soft tissue (disorder)[accessedResource: SNOMEDCT:269469005][accessDate: 05-04-2011] Malignant tumour of soft tissue Malignant tumour of soft tissue[accessedResource: SNOMEDCT:269469005][accessDate: 05-04-2011] Mesenchymal tumor, malignant Mesenchymal tumor, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Mesenchymal tumour, malignant Mesenchymal tumour, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] NCIt:C4867 NCIt:C9118 NCIt:C9306 NEOPL CONNECTIVE SOFT TISSUE NEOPL CONNECTIVE SOFT TISSUE[accessedResource: MSH:D018204][accessDate: 05-04-2011] Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue.[accessedResource: MSH:D018204][accessDate: 05-04-2011] Neoplasms, Connective and Soft Tissue Neoplasms, Connective and Soft Tissue[accessedResource: MSH:D018204][accessDate: 05-04-2011] SNOMEDCT:187985009 SNOMEDCT:189764008 SNOMEDCT:2424003 SNOMEDCT:269469005 Sarcoma of Soft Tissue Sarcoma of Soft Tissue and Bone Sarcoma of Soft Tissue and Bone[accessedResource: NCIt:C9118][accessDate: 05-04-2011] Sarcoma of Soft Tissue[accessedResource: NCIt:C9306][accessDate: 05-04-2011] Sarcoma of the Soft Tissue Sarcoma of the Soft Tissue and Bone Sarcoma of the Soft Tissue and Bone[accessedResource: NCIt:C9118][accessDate: 05-04-2011] Sarcoma of the Soft Tissue[accessedResource: NCIt:C9306][accessDate: 05-04-2011] Sarcoma, NOS Sarcoma, NOS[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Sarcoma, no ICD-O subtype Sarcoma, no ICD-O subtype (morphologic abnormality) Sarcoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Sarcoma, no ICD-O subtype[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Soft Tissue Sarcoma Soft tissue sarcoma[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Soft tissue tumor, malignant Soft tissue tumor, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Soft tissue tumour, malignant Soft tissue tumour, malignant[accessedResource: SNOMEDCT:2424003][accessDate: 05-04-2011] Tomasz Adamusiak Type of cancer of the bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. [M]Sarcoma NOS [M]Sarcoma NOS (morphologic abnormality) [M]Sarcoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189764008][accessDate: 05-04-2011] [M]Sarcoma NOS[accessedResource: SNOMEDCT:189764008][accessDate: 05-04-2011] connective and soft tissue neoplasm connective and soft tissue neoplasm[accessedResource: DOID:1115][accessDate: 05-04-2011] tumor of soft tissue and skeleton tumor of soft tissue and skeleton[accessedResource: DOID:1115][accessDate: 05-04-2011] schizophrenia A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality. A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.[accessedResource: NCIt:C3362][accessDate: 05-04-2011] A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior. A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.[accessedResource: MSH:D012559][accessDate: 05-04-2011] DOID:5419 Dementia Praecox Dementia Praecox[accessedResource: NIFSTD:birnlex_2104][accessDate: 05-04-2011] Disorder, Schizophrenic Disorder, Schizophrenic[accessedResource: MSH:D012559][accessDate: 05-04-2011] Disorders, Schizophrenic Disorders, Schizophrenic[accessedResource: MSH:D012559][accessDate: 05-04-2011] GeneRIF:11042361 GeneRIF:11104840 GeneRIF:11681838 GeneRIF:11702055 GeneRIF:11803454 GeneRIF:11803513 GeneRIF:11803524 GeneRIF:11803525 GeneRIF:11807409 GeneRIF:11807413 GeneRIF:11807415 GeneRIF:11840500 GeneRIF:11840504 GeneRIF:11840505 GeneRIF:11840510 GeneRIF:11880198 GeneRIF:11891283 GeneRIF:11920853 GeneRIF:11922883 GeneRIF:11952921 GeneRIF:11959426 GeneRIF:11959925 GeneRIF:11979062 GeneRIF:11986985 GeneRIF:11986986 GeneRIF:12007452 GeneRIF:12082558 GeneRIF:12082559 GeneRIF:12082567 GeneRIF:12090821 GeneRIF:12097806 GeneRIF:12098102 GeneRIF:12109966 GeneRIF:12111645 GeneRIF:12140776 GeneRIF:12140778 GeneRIF:12145742 GeneRIF:12149916 GeneRIF:12149917 GeneRIF:12192610 GeneRIF:12207142 GeneRIF:12210271 GeneRIF:12210277 GeneRIF:12218662 GeneRIF:12223255 GeneRIF:12270648 GeneRIF:12363390 GeneRIF:12364586 GeneRIF:12399140 GeneRIF:12399954 GeneRIF:12402217 GeneRIF:12425946 GeneRIF:12436019 GeneRIF:12439825 GeneRIF:12454527 GeneRIF:12474144 GeneRIF:12476323 GeneRIF:12476325 GeneRIF:12478479 GeneRIF:12496953 GeneRIF:12497607 GeneRIF:12497630 GeneRIF:12506198 GeneRIF:12555232 GeneRIF:12591580 GeneRIF:12605094 GeneRIF:12605097 GeneRIF:12610647 GeneRIF:12624948 GeneRIF:12627456 GeneRIF:12627459 GeneRIF:12634474 GeneRIF:12643442 GeneRIF:12648734 GeneRIF:12682740 GeneRIF:12691788 GeneRIF:12707930 GeneRIF:12707933 GeneRIF:12722515 GeneRIF:12724619 GeneRIF:12746393 GeneRIF:12762588 GeneRIF:12782960 GeneRIF:12782962 GeneRIF:12782967 GeneRIF:12799614 GeneRIF:12799619 GeneRIF:12808428 GeneRIF:12808430 GeneRIF:12808432 GeneRIF:12812986 GeneRIF:12814864 GeneRIF:12815733 GeneRIF:12815735 GeneRIF:12815736 GeneRIF:12815737 GeneRIF:12815738 GeneRIF:12815739 GeneRIF:12815740 GeneRIF:12824740 GeneRIF:12851458 GeneRIF:12867516 GeneRIF:12873802 GeneRIF:12874601 GeneRIF:12875921 GeneRIF:12884975 GeneRIF:12898568 GeneRIF:12911617 GeneRIF:12915235 GeneRIF:12921913 GeneRIF:12931209 GeneRIF:12950712 GeneRIF:12960750 GeneRIF:12960753 GeneRIF:13129656 GeneRIF:14509080 GeneRIF:14518171 GeneRIF:14532331 GeneRIF:14569272 GeneRIF:14572619 GeneRIF:14582144 GeneRIF:14618545 GeneRIF:14623368 GeneRIF:14623369 GeneRIF:14623370 GeneRIF:14623371 GeneRIF:14623375 GeneRIF:14623376 GeneRIF:14639047 GeneRIF:14642436 GeneRIF:14647391 GeneRIF:14684465 GeneRIF:14684836 GeneRIF:14699424 GeneRIF:14699426 GeneRIF:14699440 GeneRIF:14729256 GeneRIF:14729827 GeneRIF:14732589 GeneRIF:14732590 GeneRIF:14732600 GeneRIF:14732601 GeneRIF:14741324 GeneRIF:14744462 GeneRIF:14754787 GeneRIF:14755437 GeneRIF:14755438 GeneRIF:14755439 GeneRIF:14755440 GeneRIF:14755443 GeneRIF:14767724 GeneRIF:14960334 GeneRIF:14966479 GeneRIF:14973229 GeneRIF:14985387 GeneRIF:15007393 GeneRIF:15009827 GeneRIF:15038995 GeneRIF:15041036 GeneRIF:15048641 GeneRIF:15048642 GeneRIF:15066891 GeneRIF:15091314 GeneRIF:15091315 GeneRIF:15094474 GeneRIF:15098000 GeneRIF:15114630 GeneRIF:15121479 GeneRIF:15124004 GeneRIF:15124015 GeneRIF:15124027 GeneRIF:15151706 GeneRIF:15162166 GeneRIF:15167690 GeneRIF:15167695 GeneRIF:15184063 GeneRIF:15184103 GeneRIF:15194506 GeneRIF:15194870 GeneRIF:15197397 GeneRIF:15211620 GeneRIF:15211624 GeneRIF:15211626 GeneRIF:15211628 GeneRIF:15211629 GeneRIF:15211633 GeneRIF:15211634 GeneRIF:15219467 GeneRIF:15219469 GeneRIF:15219675 GeneRIF:15221639 GeneRIF:15231749 GeneRIF:15248869 GeneRIF:15254796 GeneRIF:15261699 GeneRIF:15271585 GeneRIF:15271586 GeneRIF:15274030 GeneRIF:15274031 GeneRIF:15274033 GeneRIF:15276698 GeneRIF:15277408 GeneRIF:15289817 GeneRIF:15292665 GeneRIF:15303101 GeneRIF:15305146 GeneRIF:15305151 GeneRIF:15310849 GeneRIF:15318026 GeneRIF:15318028 GeneRIF:15318033 GeneRIF:15318034 GeneRIF:15318035 GeneRIF:15329799 GeneRIF:15337252 GeneRIF:15338334 GeneRIF:15340354 GeneRIF:15362017 GeneRIF:15362566 GeneRIF:15363473 GeneRIF:15363474 GeneRIF:15364420 GeneRIF:15389752 GeneRIF:15449241 GeneRIF:15450681 GeneRIF:15452587 GeneRIF:15464270 GeneRIF:15465982 GeneRIF:15508520 GeneRIF:15522253 GeneRIF:15522255 GeneRIF:15531077 GeneRIF:15532024 GeneRIF:15539862 GeneRIF:15545978 GeneRIF:15564895 GeneRIF:15564899 GeneRIF:15564900 GeneRIF:15576061 GeneRIF:15601604 GeneRIF:15617864 GeneRIF:15630410 GeneRIF:15631889 GeneRIF:15647480 GeneRIF:15652872 GeneRIF:15653259 GeneRIF:15653269 GeneRIF:15657645 GeneRIF:15660663 GeneRIF:15660667 GeneRIF:15668720 GeneRIF:15670788 GeneRIF:15671176 GeneRIF:15694236 GeneRIF:15694262 GeneRIF:15705354 GeneRIF:15707951 GeneRIF:15719395 GeneRIF:15726117 GeneRIF:15737668 GeneRIF:15738936 GeneRIF:15739191 GeneRIF:15756053 GeneRIF:15768049 GeneRIF:15768050 GeneRIF:15774266 GeneRIF:15781144 GeneRIF:15793701 GeneRIF:15820226 GeneRIF:15820227 GeneRIF:15820318 GeneRIF:15820319 GeneRIF:15820333 GeneRIF:15824744 GeneRIF:15838535 GeneRIF:15841096 GeneRIF:15858820 GeneRIF:15861039 GeneRIF:15870291 GeneRIF:15882913 GeneRIF:15885920 GeneRIF:15900221 GeneRIF:15900227 GeneRIF:15913960 GeneRIF:15913964 GeneRIF:15917270 GeneRIF:15927374 GeneRIF:15939883 GeneRIF:15940296 GeneRIF:15940305 GeneRIF:15945063 GeneRIF:15953671 GeneRIF:15961543 GeneRIF:15998189 GeneRIF:16005437 GeneRIF:16011574 GeneRIF:16026766 GeneRIF:16027740 GeneRIF:16037677 GeneRIF:16039051 GeneRIF:16039057 GeneRIF:16044171 GeneRIF:16044173 GeneRIF:16046005 GeneRIF:16056147 GeneRIF:16056149 GeneRIF:16082709 GeneRIF:16084002 GeneRIF:16139171 GeneRIF:16139173 GeneRIF:16152568 GeneRIF:16176390 GeneRIF:16223700 ICD9:295 ICD9:295.8 ICD9:295.80 ICD9:295.81 ICD9:295.82 ICD9:295.83 ICD9:295.84 ICD9:295.85 ICD9:295.9 ICD9:295.90 ICD9:295.93 ICD9:295.94 James Malone MSH:D012559 NCIt:C3362 NIFSTD:birnlex_2104 OMIM:608078 Other specified types of schizophrenia Other specified types of schizophrenia, chronic state Other specified types of schizophrenia, chronic state with acute exacerbation Other specified types of schizophrenia, chronic state with acute exacerbation[accessedResource: ICD9:295.84][accessDate: 05-04-2011] Other specified types of schizophrenia, chronic state[accessedResource: ICD9:295.82][accessDate: 05-04-2011] Other specified types of schizophrenia, in remission Other specified types of schizophrenia, in remission[accessedResource: ICD9:295.85][accessDate: 05-04-2011] Other specified types of schizophrenia, subchronic state Other specified types of schizophrenia, subchronic state with acute exacerbation Other specified types of schizophrenia, subchronic state with acute exacerbation[accessedResource: ICD9:295.83][accessDate: 05-04-2011] Other specified types of schizophrenia, subchronic state[accessedResource: ICD9:295.81][accessDate: 05-04-2011] Other specified types of schizophrenia, unspecified state Other specified types of schizophrenia, unspecified state[accessedResource: ICD9:295.80][accessDate: 05-04-2011] Other specified types of schizophrenia[accessedResource: ICD9:295.8][accessDate: 05-04-2011] SCHIZO NEC-CHR/EXACERB SCHIZO NEC-CHR/EXACERB[accessedResource: ICD9:295.84][accessDate: 05-04-2011] SCHIZO NEC-SUBCHR/EXACER SCHIZO NEC-SUBCHR/EXACER[accessedResource: ICD9:295.83][accessDate: 05-04-2011] SCHIZO NOS-CHR/EXACERB SCHIZO NOS-CHR/EXACERB[accessedResource: ICD9:295.94][accessDate: 05-04-2011] SCHIZO NOS-SUBCHR/EXACER SCHIZO NOS-SUBCHR/EXACER[accessedResource: ICD9:295.93][accessDate: 05-04-2011] SCHIZOPHRENIA NEC-CHR SCHIZOPHRENIA NEC-CHR[accessedResource: ICD9:295.82][accessDate: 05-04-2011] SCHIZOPHRENIA NEC-REMISS SCHIZOPHRENIA NEC-REMISS[accessedResource: ICD9:295.85][accessDate: 05-04-2011] SCHIZOPHRENIA NEC-SUBCHR SCHIZOPHRENIA NEC-SUBCHR[accessedResource: ICD9:295.81][accessDate: 05-04-2011] SCHIZOPHRENIA NEC-UNSPEC SCHIZOPHRENIA NEC-UNSPEC[accessedResource: ICD9:295.80][accessDate: 05-04-2011] SCHIZOPHRENIA NOS-UNSPEC SCHIZOPHRENIA NOS-UNSPEC[accessedResource: ICD9:295.90][accessDate: 05-04-2011] SCHIZOPHRENIC DIS SCHIZOPHRENIC DIS[accessedResource: MSH:D012559][accessDate: 05-04-2011] SNOMEDCT:191526005 SNOMEDCT:191528006 SNOMEDCT:191579000 SNOMEDCT:192327003 SNOMEDCT:58214004 Schizophrenia (disorder) Schizophrenia (disorder)[accessedResource: SNOMEDCT:58214004][accessDate: 05-04-2011] Schizophrenia NOS Schizophrenia NOS (disorder) Schizophrenia NOS (disorder)[accessedResource: SNOMEDCT:191579000][accessDate: 05-04-2011] Schizophrenia NOS[accessedResource: SNOMEDCT:191579000][accessDate: 05-04-2011] Schizophrenia, NOS Schizophrenia, NOS[accessedResource: SNOMEDCT:58214004][accessDate: 05-04-2011] Schizophrenias Schizophrenias[accessedResource: MSH:D012559][accessDate: 05-04-2011] Schizophrenic Disorder Schizophrenic Disorder[accessedResource: NIFSTD:birnlex_2104][accessDate: 05-04-2011] Schizophrenic Disorders Schizophrenic disorders (disorder) Schizophrenic disorders (disorder)[accessedResource: SNOMEDCT:191526005][accessDate: 05-04-2011] Schizophrenic disorders[accessedResource: SNOMEDCT:191526005][accessDate: 05-04-2011] Tomasz Adamusiak Unspecified schizophrenia Unspecified schizophrenia (disorder) Unspecified schizophrenia (disorder)[accessedResource: SNOMEDCT:191528006][accessDate: 05-04-2011] Unspecified schizophrenia, chronic state with acute exacerbation Unspecified schizophrenia, chronic state with acute exacerbation[accessedResource: ICD9:295.94][accessDate: 05-04-2011] Unspecified schizophrenia, subchronic state with acute exacerbation Unspecified schizophrenia, subchronic state with acute exacerbation[accessedResource: ICD9:295.93][accessDate: 05-04-2011] Unspecified schizophrenia, unspecified state Unspecified schizophrenia, unspecified state[accessedResource: ICD9:295.90][accessDate: 05-04-2011] Unspecified schizophrenia[accessedResource: SNOMEDCT:191528006][accessDate: 05-04-2011] [X]Schizophrenia, unspecified [X]Schizophrenia, unspecified (disorder) [X]Schizophrenia, unspecified (disorder)[accessedResource: SNOMEDCT:192327003][accessDate: 05-04-2011] [X]Schizophrenia, unspecified[accessedResource: SNOMEDCT:192327003][accessDate: 05-04-2011] schizophrenia-1 schizophrenia-1[accessedResource: DOID:5419][accessDate: 05-04-2011] true schwannoma A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported. A benign, usually encapsulated slow growing tumor of the peripheral nervous system composed of well differentiated Schwann cells. It recurs infrequently and only rare cases associated with malignant transformation have been reported.[accessedResource: NCIt:C3269][accessDate: 05-04-2011] A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH). A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance (MeSH).[accessedResource: NIFSTD:birnlex_12603][accessDate: 05-04-2011] A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5) A neoplasm that arises from SCHWANN CELLS of the cranial, peripheral, and autonomic nerves. Clinically, these tumors may present as a cranial neuropathy, abdominal or soft tissue mass, intracranial lesion, or with spinal cord compression. Histologically, these tumors are encapsulated, highly vascular, and composed of a homogenous pattern of biphasic fusiform-shaped cells that may have a palisaded appearance. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp964-5)[accessedResource: MSH:D009442][accessDate: 05-04-2011] A tumor of the peripheral nervous system composed of neoplastic Schwann cells. The vast majority of schwannomas follow a benign clinical course. Only rare cases associated with a malignant clinical course have been reported. Acoustic neuroma Acoustic neuroma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Ancient Neurilemmoma[accessedResource: NCIt:C6556][accessDate: 05-04-2011] Ancient Schwannoma[accessedResource: SNOMEDCT:404023006][accessDate: 05-04-2011] Ancient neurilemmoma Ancient neurilemmoma (disorder) Ancient neurilemmoma (disorder)[accessedResource: SNOMEDCT:404023006][accessDate: 05-04-2011] Ancient neurilemoma Ancient neurilemoma[accessedResource: SNOMEDCT:409704009][accessDate: 05-04-2011] Ancient schwannoma Ancient schwannoma (morphologic abnormality) Ancient schwannoma (morphologic abnormality)[accessedResource: SNOMEDCT:409704009][accessDate: 05-04-2011] Benign Neurilemmoma Benign Neurilemmoma[accessedResource: NCIt:C3269][accessDate: 05-04-2011] Benign Schwannoma Benign Schwannoma[accessedResource: NCIt:C3269][accessDate: 05-04-2011] Cellular schwannoma Cellular schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] DOID:3192 Degenerated Neurilemmoma Degenerated Neurilemmoma[accessedResource: NCIt:C6556][accessDate: 05-04-2011] Degenerated Schwannoma Degenerated schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] GeneRIF:12118253 GeneRIF:12444102 GeneRIF:12665675 GeneRIF:13679444 GeneRIF:14566860 GeneRIF:14612918 GeneRIF:15837555 GeneRIF:15850583 James Malone MSH:D009442 Malignant Neurilemoma Malignant Neurilemoma[accessedResource: MSH:D009442][accessDate: 05-04-2011] Malignant Neurilemomas Malignant Neurilemomas[accessedResource: MSH:D009442][accessDate: 05-04-2011] Melanocytic Schwannoma Melanocytic Schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Melanotic schwannoma Melanotic schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] NCIt:C3269 NCIt:C6556 NIFSTD:birnlex_12603 Neurilemmoma Neurilemmoma (disorder) Neurilemmoma (disorder)[accessedResource: SNOMEDCT:404022001][accessDate: 05-04-2011] Neurilemmoma, NOS Neurilemmoma, NOS[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Neurilemmoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Neurilemmomas Neurilemmomas[accessedResource: MSH:D009442][accessDate: 05-04-2011] Neurilemmosarcoma Neurilemmosarcoma[accessedResource: NIFSTD:birnlex_12603][accessDate: 05-04-2011] Neurilemmosarcomas Neurilemmosarcomas[accessedResource: MSH:D009442][accessDate: 05-04-2011] Neurilemoma Neurilemoma (morphologic abnormality) Neurilemoma (morphologic abnormality)[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Neurilemoma, Malignant Neurilemoma, Malignant[accessedResource: MSH:D009442][accessDate: 05-04-2011] Neurilemoma[accessedResource: NIFSTD:birnlex_12603][accessDate: 05-04-2011] Neurilemomas Neurilemomas, Malignant Neurilemomas, Malignant[accessedResource: MSH:D009442][accessDate: 05-04-2011] Neurilemomas[accessedResource: MSH:D009442][accessDate: 05-04-2011] Neurinoma Neurinoma[accessedResource: NCIt:C3269][accessDate: 05-04-2011] Neurinomas Neurinomas[accessedResource: MSH:D009442][accessDate: 05-04-2011] OMIM:162091 Pigmented Schawnnoma Pigmented Schawnnoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Pigmented schwannoma Pigmented schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Plexiform Schwannomatoses Plexiform Schwannomatoses[accessedResource: MSH:D009442][accessDate: 05-04-2011] Plexiform Schwannomatosis Plexiform Schwannomatosis[accessedResource: MSH:D009442][accessDate: 05-04-2011] Plexiform schwannoma Plexiform schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Psammomatous schwannoma Psammomatous schwannoma[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] SNOMEDCT:404022001 SNOMEDCT:404023006 SNOMEDCT:409704009 SNOMEDCT:985004 Schwannoma (WHO Grade I) Schwannoma (WHO Grade I)[accessedResource: NCIt:C3269][accessDate: 05-04-2011] Schwannoma, NOS Schwannoma, NOS[accessedResource: SNOMEDCT:985004][accessDate: 05-04-2011] Schwannomas Schwannomas[accessedResource: MSH:D009442][accessDate: 05-04-2011] Schwannomatoses, Plexiform Schwannomatoses, Plexiform[accessedResource: MSH:D009442][accessDate: 05-04-2011] Schwannomatosis, Plexiform Schwannomatosis, Plexiform[accessedResource: MSH:D009442][accessDate: 05-04-2011] Tomasz Adamusiak severe acute respiratory syndrome A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. A coronavirus infectious disease and is_a respiratory system infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia.[accessedResource: DOID:2945][accessDate: 05-04-2011] A respiratory system infectious disease and is_a coronavirus infectious disease that results_in infection located_in respiratory tract, has_agent SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. A respiratory system infectious disease that is a severe respiratory illness characterized by fever, headache, body aches, a dry cough, and hypoxia and pneumonia caused by a single-stranded RNA virus of the genus SARS coronavirus (SARS-CoV). A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent. A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.[accessedResource: MSH:D045169][accessDate: 05-04-2011] DOID:2945 GeneRIF:12969506 GeneRIF:14647384 GeneRIF:15187168 GeneRIF:15243926 GeneRIF:15306699 GeneRIF:15326590 GeneRIF:15345712 GeneRIF:15381116 GeneRIF:15452265 GeneRIF:15518555 GeneRIF:15522242 GeneRIF:15569689 GeneRIF:15731040 GeneRIF:15749762 GeneRIF:15766558 GeneRIF:15788388 GeneRIF:15840526 GeneRIF:15958670 GeneRIF:15992957 GeneRIF:16195357 GeneRIF:16299304 ICD9:079.82 James Malone MSH:D045169 Respiratory Syndrome, Acute, Severe Respiratory Syndrome, Acute, Severe[accessedResource: MSH:D045169][accessDate: 05-04-2011] Respiratory Syndrome, Severe Acute Respiratory Syndrome, Severe Acute[accessedResource: MSH:D045169][accessDate: 05-04-2011] SARS SARS ASSOC CORONAVIRUS SARS ASSOC CORONAVIRUS[accessedResource: ICD9:079.82][accessDate: 05-04-2011] SARS-CoV infection SARS-CoV infection[accessedResource: DOID:2945][accessDate: 05-04-2011] SARS-associated coronavirus SARS-associated coronavirus[accessedResource: ICD9:079.82][accessDate: 05-04-2011] SARS[accessedResource: SNOMEDCT:398447004][accessDate: 05-04-2011] SNOMEDCT:398447004 Severe acute respiratory syndrome (disorder) Severe acute respiratory syndrome (disorder)[accessedResource: SNOMEDCT:398447004][accessDate: 05-04-2011] Severe acute respiratory syndrome is a respiratory tract infection described as a severe respiratory illness that is transmitted especially by contact with infectious material (as respiratory droplets or body fluids), is caused by a single-stranded RNA virus of the genus Coronavirus (SARS-CoV), is characterized by fever, headache, body aches, a dry cough, and hypoxia and usually by pneumonia. sex An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved. An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved.[accessedResource: PATO:0000047][accessDate: 05-04-2011] James Malone Jie Zheng MO_680 NCIt:C28421 PATO:0000047 Term applied to any organism able to undergo sexual reproduction in order to differentiate the individuals or types involved. Sexual reproduction is defined as the ability to exchange genetic material with the potential of recombinant progeny. The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female. The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female.[accessedResource: NCIt:C28421][accessDate: 05-04-2011] Tomasz Adamusiak biological sex biological sex[accessedResource: PATO:0000047][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#sex shear stressing A process whereby a stress state is applied parallel or tangential to a face of the material. James Malone obsolete_sickle cell disease A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia. A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.[accessedResource: NCIt:C34383][accessDate: 05-04-2011] Anemia, Sickle Cell DOID:10923 Drepanocythaemia Drepanocythaemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Drepanocythemia Drepanocythemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] GeneRIF:11869935 GeneRIF:12549821 GeneRIF:12601490 GeneRIF:12673836 GeneRIF:12677174 GeneRIF:12714517 GeneRIF:12773623 GeneRIF:12850481 GeneRIF:12928439 GeneRIF:14579408 GeneRIF:14683458 GeneRIF:14755370 GeneRIF:14967817 GeneRIF:15023184 GeneRIF:15153712 GeneRIF:15271798 GeneRIF:15297857 GeneRIF:15388579 GeneRIF:15556291 GeneRIF:15556687 GeneRIF:15586174 GeneRIF:15609334 GeneRIF:15662557 GeneRIF:15834635 GeneRIF:15855323 HB-S DIS W/O CRISIS NEC HB-S DIS W/O CRISIS NEC[accessedResource: ICD9:282.68][accessDate: 05-04-2011] HB-SS DIS NEC W CRISIS HB-SS DIS NEC W CRISIS[accessedResource: ICD9:282.69][accessDate: 05-04-2011] Haemoglobin S disease Haemoglobin S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Haemoglobin S-S disease Haemoglobin S-S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Hb S disease Hb S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Hb SC disease Hb SC disease[accessedResource: DOID:10923][accessDate: 05-04-2011] Hb SS disease Hb SS disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Hb-S/Hb-C disease Hb-S/Hb-C disease[accessedResource: DOID:10923][accessDate: 05-04-2011] Hb-SS disease without crisis Hb-SS disease without crisis[accessedResource: DOID:10923][accessDate: 05-04-2011] Hemoglobin S disease Hemoglobin S disease without crisis (disorder) Hemoglobin S disease without crisis (disorder)[accessedResource: DOID:10923][accessDate: 05-04-2011] Hemoglobin S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Hemoglobin S-S disease Hemoglobin S-S disease[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Hemoglobin SS disease without crisis (disorder) Hereditary hemoglobinopathy disorder homozygous for hemoglobin S Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder) Hereditary hemoglobinopathy disorder homozygous for hemoglobin S (disorder)[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Hereditary hemoglobinopathy disorder homozygous for hemoglobin S[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] ICD9:282.6 ICD9:282.60 ICD9:282.68 ICD9:282.69 James Malone MSH:D000755 NCIt:C34383 OMIM:603903 Other sickle-cell disease with crisis Other sickle-cell disease with crisis[accessedResource: ICD9:282.69][accessDate: 05-04-2011] Other sickle-cell disease without crisis Other sickle-cell disease without crisis[accessedResource: ICD9:282.68][accessDate: 05-04-2011] SICKLE CELL DISEASE NOS SICKLE CELL DISEASE NOS[accessedResource: ICD9:282.60][accessDate: 05-04-2011] SNOMEDCT:127040003 SNOMEDCT:191195005 SNOMEDCT:191199004 Sickle cell anaemia Sickle cell anaemia NOS Sickle cell anaemia NOS[accessedResource: SNOMEDCT:191199004][accessDate: 05-04-2011] Sickle cell anaemia of unspecified type Sickle cell anaemia of unspecified type[accessedResource: SNOMEDCT:191195005][accessDate: 05-04-2011] Sickle cell anaemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Sickle cell anemia Sickle cell anemia NOS Sickle cell anemia NOS (disorder) Sickle cell anemia NOS (disorder)[accessedResource: SNOMEDCT:191199004][accessDate: 05-04-2011] Sickle cell anemia NOS[accessedResource: SNOMEDCT:191199004][accessDate: 05-04-2011] Sickle cell anemia of unspecified type Sickle cell anemia of unspecified type (disorder) Sickle cell anemia of unspecified type (disorder)[accessedResource: SNOMEDCT:191195005][accessDate: 05-04-2011] Sickle cell anemia of unspecified type[accessedResource: SNOMEDCT:191195005][accessDate: 05-04-2011] Sickle cell anemia[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Sickle cell syndrome Sickle cell syndrome[accessedResource: SNOMEDCT:127040003][accessDate: 05-04-2011] Sickle-cell disease Sickle-cell disease, unspecified Sickle-cell disease, unspecified[accessedResource: ICD9:282.60][accessDate: 05-04-2011] Sickle-cell disease[accessedResource: ICD9:282.6][accessDate: 05-04-2011] Sickle-cell/Hb-C disease without crisis Sickle-cell/Hb-C disease without crisis[accessedResource: DOID:10923][accessDate: 05-04-2011] Tomasz Adamusiak hemoglobin SC disease hemoglobin SC disease[accessedResource: DOID:10923][accessDate: 05-04-2011] true 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_125' instead. New Label : Sickle cell anemia signet ring cell carcinoma A poorly differentiated adenocarcinoma in which the nucleus is pressed to one side by a cytoplasmic droplet of mucus. It usually arises in the gastrointestinal system. A poorly differentiated adenocarcinoma in which the nucleus is pressed to one side by a cytoplasmic droplet of mucus. It usually arises in the gastrointestinal system.[accessedResource: MSH:D018279][accessDate: 05-04-2011] A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland. A usually aggressive, poorly differentiated invasive adenocarcinoma characterized by the presence of malignant glandular cells in which the nucleus is pressed to one side by the presence of intracytoplasmic mucus. It may arise from the stomach, small and large intestine, ampulla of Vater, appendix, gallbladder, pancreas, lung, bladder, breast, and prostate gland.[accessedResource: NCIt:C3774][accessDate: 05-04-2011] Carcinoma, Signet Ring Cell Carcinoma, Signet Ring Cell[accessedResource: MSH:D018279][accessDate: 05-04-2011] DOID:3493 GeneRIF:11788899 James Malone MSH:D018279 NCIt:C3774 SNOMEDCT:189702009 SNOMEDCT:87737001 Signet Ring cell adenocarcinoma Signet Ring cell adenocarcinoma[accessedResource: DOID:3493][accessDate: 05-04-2011] Signet ring carcinoma Signet ring carcinoma NOS (morphologic abnormality) Signet ring carcinoma NOS (morphologic abnormality)[accessedResource: DOID:3493][accessDate: 05-04-2011] Signet ring carcinoma[accessedResource: SNOMEDCT:87737001][accessDate: 05-04-2011] Signet ring cell carcinoma (morphologic abnormality) Signet ring cell carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:87737001][accessDate: 05-04-2011] [M]Signet ring carcinoma NOS [M]Signet ring carcinoma NOS (morphologic abnormality) [M]Signet ring carcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189702009][accessDate: 05-04-2011] [M]Signet ring carcinoma NOS[accessedResource: SNOMEDCT:189702009][accessDate: 05-04-2011] Sjogren syndrome An autoimmune disease that results_from attack of immune cells which destroy the exocrine glands that produce tears and saliva. An autoimmune disease that results_from attack of immune cells which destroy the exocrine glands that produce tears and saliva.[accessedResource: DOID:12894][accessDate: 05-04-2011] An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus. An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus.[accessedResource: NCIt:C26883][accessDate: 05-04-2011] Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis. Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.[accessedResource: MSH:D012859][accessDate: 05-04-2011] DOID:12894 James Malone MSH:D012859 Mikulicz disease NCIt:C26883 OMIM:270150 SJOGREN'S SYNDROME SNOMEDCT:83901003 Sicca (Sjogren's) syndrome Sicca syndrome Sicca syndrome (disorder) Sicca syndrome[accessedResource: DOID:12894][accessDate: 05-04-2011] Sjgren's syndrome (disorder) Sjogren's Syndrome[accessedResource: MSH:D012859][accessDate: 05-04-2011] Sjogren's disease Sjogren's disease[accessedResource: SNOMEDCT:83901003][accessDate: 05-04-2011] Sjogren's syndrome (disorder) Sjogren's syndrome (disorder)[accessedResource: SNOMEDCT:83901003][accessDate: 05-04-2011] Sjogrens Syndrome Sjogrens Syndrome[accessedResource: MSH:D012859][accessDate: 05-04-2011] Syndrome, Sicca Syndrome, Sicca[accessedResource: MSH:D012859][accessDate: 05-04-2011] Syndrome, Sjogren's Syndrome, Sjogren's[accessedResource: MSH:D012859][accessDate: 05-04-2011] Tomasz Adamusiak xerodermosteosis xerodermosteosis[accessedResource: DOID:12894][accessDate: 05-04-2011] integumental cell An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages. An organ that constitutes the external surface of the body. It consists of the epidermis, dermis, and skin appendages.[accessedResource: NCIt:C12470][accessDate: 05-04-2011] Integument Integument[accessedResource: NCIt:C12470][accessDate: 05-04-2011] James Malone NCIt:C12470 Skin[accessedResource: NCIt:C12470][accessDate: 05-04-2011] skin disease Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs. Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs.[accessedResource: NCIt:C3371][accessDate: 05-04-2011] Cutaneous Disorder Cutaneous Disorder[accessedResource: NCIt:C3371][accessDate: 05-04-2011] James Malone NCIt:C3371 SKIN AND SUBCUTANEOUS TISSUE DISORDERS SKIN AND SUBCUTANEOUS TISSUE DISORDERS[accessedResource: NCIt:C3371][accessDate: 05-04-2011] Skin Diseases and Manifestations Skin Diseases and Manifestations[accessedResource: NCIt:C3371][accessDate: 05-04-2011] Skin Disorder Skin Disorder[accessedResource: NCIt:C3371][accessDate: 05-04-2011] small cell lung carcinoma A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. (NCI05) A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.[accessedResource: NCIt:C4917][accessDate: 05-04-2011] An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7) An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)[accessedResource: MSH:D018288][accessDate: 05-04-2011] Carcinoma, Oat Cell Carcinoma, Oat Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011] Carcinoma, Small Cell Carcinoma, Small Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011] Carcinomas, Oat Cell Carcinomas, Oat Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011] Carcinomas, Small Cell Carcinomas, Small Cell[accessedResource: MSH:D018288][accessDate: 05-04-2011] DOID:5409 GeneRIF:11782387 GeneRIF:11804687 GeneRIF:11836568 GeneRIF:11839685 GeneRIF:11948117 GeneRIF:11955647 GeneRIF:12001123 GeneRIF:12079519 GeneRIF:12177731 GeneRIF:12356726 GeneRIF:12393872 GeneRIF:12432558 GeneRIF:12474049 GeneRIF:12499091 GeneRIF:12555074 GeneRIF:12569360 GeneRIF:12579323 GeneRIF:12591723 GeneRIF:12605092 GeneRIF:12611639 GeneRIF:12629521 GeneRIF:12636057 GeneRIF:12684632 GeneRIF:12700635 GeneRIF:12757855 GeneRIF:12767512 GeneRIF:12771999 GeneRIF:12792791 GeneRIF:12796027 GeneRIF:12820318 GeneRIF:12820319 GeneRIF:14507113 GeneRIF:14515059 GeneRIF:14560006 GeneRIF:14592434 GeneRIF:14614010 GeneRIF:14661059 GeneRIF:14672915 GeneRIF:14758730 GeneRIF:14997382 GeneRIF:15026553 GeneRIF:15041716 GeneRIF:15112277 GeneRIF:15184245 GeneRIF:15205330 GeneRIF:15205342 GeneRIF:15217946 GeneRIF:15279903 GeneRIF:15387368 GeneRIF:15502806 GeneRIF:15514966 GeneRIF:15623596 GeneRIF:15671551 GeneRIF:15709164 GeneRIF:15806155 GeneRIF:15864740 GeneRIF:15870700 GeneRIF:15942654 GeneRIF:16052521 GeneRIF:16077988 GeneRIF:16103065 GeneRIF:16115696 GeneRIF:16125276 GeneRIF:16140931 GeneRIF:16222316 GeneRIF:16226111 GeneRIF:16242000 James Malone Lung Oat Cell Carcinoma Lung Oat Cell Carcinoma[accessedResource: NCIt:C4917][accessDate: 05-04-2011] Lung Small Cell Neuroendocrine Carcinoma Lung Small Cell Neuroendocrine Carcinoma[accessedResource: NCIt:C4917][accessDate: 05-04-2011] MSH:D018288 NCIt:C4917 OMIM:182280 Oat Cell Carcinoma Oat Cell Carcinoma of Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011] Oat Cell Carcinoma of the Lung Oat Cell Carcinoma of the Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011] Oat Cell Carcinoma[accessedResource: MSH:D018288][accessDate: 05-04-2011] Oat Cell Carcinomas Oat Cell Carcinomas[accessedResource: MSH:D018288][accessDate: 05-04-2011] Oat Cell Lung Carcinoma Oat Cell Lung Carcinoma[accessedResource: NCIt:C4917][accessDate: 05-04-2011] Oat cell carcinoma of lung Oat cell carcinoma of lung (disorder) Oat cell carcinoma of lung (disorder)[accessedResource: SNOMEDCT:254633006][accessDate: 05-04-2011] SCLC SCLC - Small cell lung cancer SCLC - Small cell lung cancer[accessedResource: SNOMEDCT:254632001][accessDate: 05-04-2011] SCLC[accessedResource: NCIt:C4917][accessDate: 05-04-2011] SNOMEDCT:254632001 SNOMEDCT:254633006 Small Cell Carcinoma Small Cell Carcinoma of Lung Small Cell Carcinoma of Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011] Small Cell Carcinoma of the Lung Small Cell Carcinoma of the Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011] Small Cell Carcinoma[accessedResource: MSH:D018288][accessDate: 05-04-2011] Small Cell Carcinomas Small Cell Carcinomas[accessedResource: MSH:D018288][accessDate: 05-04-2011] Small Cell Neuroendocrine Carcinoma of Lung Small Cell Neuroendocrine Carcinoma of the Lung Small Cell Neuroendocrine Carcinoma of the Lung[accessedResource: NCIt:C4917][accessDate: 05-04-2011] Small cell lung cancer Small cell lung cancer[accessedResource: SNOMEDCT:254632001][accessDate: 05-04-2011] Tomasz Adamusiak lung small cell carcinoma lung small cell carcinoma[accessedResource: DOID:5409][accessDate: 05-04-2011] small cell carcinoma of lung (disorder) small cell carcinoma of lung (disorder)[accessedResource: DOID:5409][accessDate: 05-04-2011] small cell neuroendocrine carcinoma of lung[accessedResource: DOID:5409][accessDate: 05-04-2011] small-cell lung cancer true spindle cell tumor A sarcoma that is composed of spindle cells with a rich vascular network. DOID:2414 James Malone NCIt:C27263 Spindle Cell Neoplasm Spindle Cell Neoplasm[accessedResource: NCIt:C27263][accessDate: 05-04-2011] hemangiopericytoma spondyloarthropathy DOID:1123 Disorder of joint of spine Disorder of joint of spine (disorder) Disorder of joint of spine (disorder)[accessedResource: SNOMEDCT:372109003][accessDate: 05-04-2011] Disorder of joint of spine[accessedResource: SNOMEDCT:372109003][accessDate: 05-04-2011] GeneRIF:12115249 GeneRIF:14558097 GeneRIF:15146432 Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others. Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others.[accessedResource: MSH:D025242][accessDate: 05-04-2011] ICD9:719.98 ICD9:721.90 JOINT DIS NOS-OTH JT JOINT DIS NOS-OTH JT[accessedResource: ICD9:719.98][accessDate: 05-04-2011] James Malone MSH:D025242 OA - Osteoarthritis of spine OA - Osteoarthritis of spine[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] OA - Osteoarthritis of the spine OA - Osteoarthritis of the spine[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] OMIM:106300 Osteoarthritis of spine Osteoarthritis of spine[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] SNOMEDCT:372109003 SNOMEDCT:8847002 SPONDYLOS NOS W/O MYELOP SPONDYLOS NOS W/O MYELOP[accessedResource: ICD9:721.90][accessDate: 05-04-2011] Spondarthropathy Spondarthropathy[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] Spondylarthropathies Spondylarthropathies[accessedResource: MSH:D025242][accessDate: 05-04-2011] Spondylarthropathy Spondylarthropathy[accessedResource: MSH:D025242][accessDate: 05-04-2011] Spondylarthrosis Spondylarthrosis NOS Spondylarthrosis NOS[accessedResource: DOID:1123][accessDate: 05-04-2011] Spondylarthrosis, NOS Spondylarthrosis, NOS[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] Spondylarthrosis[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] Spondyloarthropathy (disorder) Spondyloarthropathy (disorder)[accessedResource: DOID:1123][accessDate: 05-04-2011] Spondylosis Spondylosis (disorder) Spondylosis (disorder)[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] Spondylosis of unspecified site without mention of myelopathy Spondylosis of unspecified site without mention of myelopathy[accessedResource: ICD9:721.90][accessDate: 05-04-2011] Spondylosis, NOS Spondylosis, NOS[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] Spondylosis[accessedResource: SNOMEDCT:8847002][accessDate: 05-04-2011] Tomasz Adamusiak Unspecified joint disorder of other specified sites Unspecified joint disorder of other specified sites[accessedResource: ICD9:719.98][accessDate: 05-04-2011] squamous cell carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma. A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.[accessedResource: NCIt:C2929][accessDate: 05-04-2011] A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed) A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinoma, Epidermoid Carcinoma, Epidermoid[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinoma, Planocellular Carcinoma, Planocellular[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinoma, Squamous Carcinoma, Squamous Cell Carcinoma, Squamous Cell[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinoma, Squamous[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinomas, Epidermoid Carcinomas, Epidermoid[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinomas, Planocellular Carcinomas, Planocellular[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinomas, Squamous Carcinomas, Squamous Cell Carcinomas, Squamous Cell[accessedResource: MSH:D002294][accessDate: 05-04-2011] Carcinomas, Squamous[accessedResource: MSH:D002294][accessDate: 05-04-2011] DOID:1749 Epidermoid Carcinoma Epidermoid Carcinomas Epidermoid Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011] Epidermoid Cell Cancer Epidermoid Cell Cancer[accessedResource: NCIt:C2929][accessDate: 05-04-2011] Epidermoid carcinoma, NOS Epidermoid carcinoma, NOS[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011] GeneRIF:11779227 GeneRIF:11788901 GeneRIF:11814623 GeneRIF:11836590 GeneRIF:11875739 GeneRIF:11887018 GeneRIF:11920472 GeneRIF:11956617 GeneRIF:11957139 GeneRIF:11959846 GeneRIF:11960918 GeneRIF:11982752 GeneRIF:12029498 GeneRIF:12060398 GeneRIF:12112307 GeneRIF:12115476 GeneRIF:12115490 GeneRIF:12168821 GeneRIF:12169394 GeneRIF:12174888 GeneRIF:12174890 GeneRIF:12190814 GeneRIF:12194986 GeneRIF:12269988 GeneRIF:12270344 GeneRIF:12372346 GeneRIF:12408753 GeneRIF:12413951 GeneRIF:12429789 GeneRIF:12447480 GeneRIF:12452003 GeneRIF:12452059 GeneRIF:12474056 GeneRIF:12479097 GeneRIF:12527941 GeneRIF:12565178 GeneRIF:12579289 GeneRIF:12579497 GeneRIF:12599217 GeneRIF:12607604 GeneRIF:12632084 GeneRIF:12668285 GeneRIF:12670508 GeneRIF:12676577 GeneRIF:12681285 GeneRIF:12694349 GeneRIF:12700631 GeneRIF:12720100 GeneRIF:12722480 GeneRIF:12727836 GeneRIF:12738984 GeneRIF:12743035 GeneRIF:12748469 GeneRIF:12787042 GeneRIF:12792768 GeneRIF:12823440 GeneRIF:12824922 GeneRIF:12841598 GeneRIF:12841867 GeneRIF:12851677 GeneRIF:12860293 GeneRIF:12878090 GeneRIF:12879021 GeneRIF:12926130 GeneRIF:12929940 GeneRIF:12954496 GeneRIF:12958179 GeneRIF:12964017 GeneRIF:12969350 GeneRIF:13679863 GeneRIF:14517347 GeneRIF:14529662 GeneRIF:14555508 GeneRIF:14567988 GeneRIF:14604894 GeneRIF:14604896 GeneRIF:14607337 GeneRIF:14633701 GeneRIF:14676801 GeneRIF:14676802 GeneRIF:14702179 GeneRIF:14707456 GeneRIF:14708636 GeneRIF:14719077 GeneRIF:14733907 GeneRIF:14734465 GeneRIF:14750174 GeneRIF:14760079 GeneRIF:14767526 GeneRIF:14871981 GeneRIF:14961580 GeneRIF:14981901 GeneRIF:14981906 GeneRIF:14985402 GeneRIF:14991744 GeneRIF:14993646 GeneRIF:14997212 GeneRIF:15001836 GeneRIF:15033492 GeneRIF:15059221 GeneRIF:15061963 GeneRIF:15073598 GeneRIF:15094779 GeneRIF:15140235 GeneRIF:15151617 GeneRIF:15161058 GeneRIF:15170282 GeneRIF:15173661 GeneRIF:15180941 GeneRIF:15184245 GeneRIF:15184269 GeneRIF:15197677 GeneRIF:15200479 GeneRIF:15201986 GeneRIF:15201990 GeneRIF:15205458 GeneRIF:15217930 GeneRIF:15218300 GeneRIF:15241500 GeneRIF:15252855 GeneRIF:15254682 GeneRIF:15254686 GeneRIF:15254691 GeneRIF:15254763 GeneRIF:15328184 GeneRIF:15328914 GeneRIF:15329319 GeneRIF:15331608 GeneRIF:15363037 GeneRIF:15365571 GeneRIF:15375751 GeneRIF:15388813 GeneRIF:15390192 GeneRIF:15492752 GeneRIF:15515019 GeneRIF:15526353 GeneRIF:15551738 GeneRIF:15567470 GeneRIF:15568401 GeneRIF:15579456 GeneRIF:15585623 GeneRIF:15609307 GeneRIF:15625067 GeneRIF:15638360 GeneRIF:15662526 GeneRIF:15709189 GeneRIF:15740587 GeneRIF:15754018 GeneRIF:15754020 GeneRIF:15756447 GeneRIF:15767556 GeneRIF:15774758 GeneRIF:15776189 GeneRIF:15811118 GeneRIF:15816843 GeneRIF:15817070 GeneRIF:15826242 GeneRIF:15830715 GeneRIF:15832405 GeneRIF:15856454 GeneRIF:15870689 GeneRIF:15878916 GeneRIF:15920558 GeneRIF:15930346 GeneRIF:15943786 GeneRIF:16012760 GeneRIF:16022908 GeneRIF:16024014 GeneRIF:16035618 GeneRIF:16077964 GeneRIF:16091114 GeneRIF:16127291 GeneRIF:16142392 GeneRIF:16172916 GeneRIF:16201750 GeneRIF:16211299 GeneRIF:16327980 James Malone MSH:D002294 Malignant Epidermoid Cell Neoplasm Malignant Epidermoid Cell Neoplasm[accessedResource: NCIt:C2929][accessDate: 05-04-2011] Malignant Epidermoid Cell Tumor Malignant Epidermoid Cell Tumor[accessedResource: NCIt:C2929][accessDate: 05-04-2011] Malignant Squamous Cell Neoplasm Malignant Squamous Cell Neoplasm[accessedResource: NCIt:C2929][accessDate: 05-04-2011] Malignant Squamous Cell Tumor Malignant Squamous Cell Tumor[accessedResource: NCIt:C2929][accessDate: 05-04-2011] NCIt:C2929 NCIt:C8999 Planocellular Carcinoma Planocellular Carcinoma[accessedResource: MSH:D002294][accessDate: 05-04-2011] Planocellular Carcinomas Planocellular Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011] SCC - Squamous cell carcinoma SCC - Squamous cell carcinoma[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011] SNOMEDCT:189566008 SNOMEDCT:28899001 SNOMEDCT:402815007 Squamous Carcinomas Squamous Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011] Squamous Cell Cancer Squamous Cell Cancer[accessedResource: NCIt:C2929][accessDate: 05-04-2011] Squamous Cell Carcinomas Squamous Cell Carcinomas[accessedResource: MSH:D002294][accessDate: 05-04-2011] Squamous cell carcinoma (disorder) Squamous cell carcinoma (disorder)[accessedResource: SNOMEDCT:402815007][accessDate: 05-04-2011] Squamous cell carcinoma (morphologic abnormality) Squamous cell carcinoma, NOS Squamous cell carcinoma, NOS[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011] Squamous cell carcinoma, no ICD-O subtype Squamous cell carcinoma, no ICD-O subtype (morphologic abnormality) Squamous cell carcinoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011] Squamous cell carcinoma, no ICD-O subtype[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011] Squamous cell epithelioma Squamous cell epithelioma[accessedResource: SNOMEDCT:28899001][accessDate: 05-04-2011] [M]Squamous cell carcinoma NOS [M]Squamous cell carcinoma NOS (morphologic abnormality) [M]Squamous cell carcinoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189566008][accessDate: 05-04-2011] [M]Squamous cell carcinoma NOS[accessedResource: SNOMEDCT:189566008][accessDate: 05-04-2011] epidermoid carcinoma[accessedResource: DOID:1749][accessDate: 05-04-2011] squamous carcinoma squamous carcinoma[accessedResource: DOID:1749][accessDate: 05-04-2011] squamous cell carcinoma (morphologic abnormality)[accessedResource: DOID:1749][accessDate: 05-04-2011] squamous cell carcinoma NOS (morphologic abnormality) squamous cell carcinoma NOS (morphologic abnormality)[accessedResource: DOID:1749][accessDate: 05-04-2011] squamous cell lung carcinoma A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.[accessedResource: NCIt:C3493][accessDate: 05-04-2011] DOID:3907 Epidermoid Cell Carcinoma of Lung Epidermoid Cell Carcinoma of Lung[accessedResource: NCIt:C3493][accessDate: 05-04-2011] Epidermoid Cell Lung Carcinoma Epidermoid Cell Lung Carcinoma[accessedResource: NCIt:C3493][accessDate: 05-04-2011] Epidermoid carcinoma of lung Epidermoid carcinoma of lung[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011] Epidermoid cell carcinoma of the lung Epidermoid cell carcinoma of the lung[accessedResource: DOID:3907][accessDate: 05-04-2011] GeneRIF:12107845 GeneRIF:15889794 James Malone NCIt:C3493 SCC - Squamous cell carcinoma of lung SCC - Squamous cell carcinoma of lung[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011] SNOMEDCT:254634000 Squamous Cell Carcinoma of the Lung Squamous Cell Carcinoma of the Lung[accessedResource: NCIt:C3493][accessDate: 05-04-2011] Squamous cell carcinoma of lung Squamous cell carcinoma of lung (disorder) Squamous cell carcinoma of lung (disorder)[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011] Squamous cell carcinoma of lung[accessedResource: SNOMEDCT:254634000][accessDate: 05-04-2011] lung squamous cell carcinoma lung squamous cell carcinoma[accessedResource: DOID:3907][accessDate: 05-04-2011] obsolete_strain 1.8 A population or type of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics. James Malone Jie Zheng MO_859 Tomasz Adamusiak consolodated into organism hierarchy this class was originally 'strain or line' true obsolete_strain factor 1.8 James Malone consolodated all strains into organism hierarchy true stroke A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)[accessedResource: MSH:D020521][accessDate: 05-04-2011] A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event. A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.[accessedResource: NCIt:C3390][accessDate: 05-04-2011] A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH). A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).[accessedResource: NIFSTD:birnlex_12783][accessDate: 05-04-2011] A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) ANTERIOR CEREBRAL CIRC INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011] ANTERIOR CIRC BRAIN INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011] ANTERIOR CIRC INFARCT BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011] Acute Cerebrovascular Accident Acute Cerebrovascular Accident[accessedResource: MSH:D020521][accessDate: 05-04-2011] Acute Cerebrovascular Accidents Acute Cerebrovascular Accidents[accessedResource: MSH:D020521][accessDate: 05-04-2011] Acute Stroke Acute Stroke[accessedResource: MSH:D020521][accessDate: 05-04-2011] Acute Strokes Acute Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011] Anterior Cerebral Circulation Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011] Anterior Circulation Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011] Anterior Circulation Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] Apoplexy Apoplexy, Cerebrovascular Apoplexy, Cerebrovascular[accessedResource: MSH:D020521][accessDate: 05-04-2011] Apoplexy[accessedResource: NIFSTD:birnlex_12783][accessDate: 05-04-2011] BRAIN INFARCT ANTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011] BRAIN INFARCT POSTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011] BRAIN INFARCT VENOUS[accessedResource: MSH:D020520][accessDate: 05-04-2011] BRAIN INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Infarction, Anterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Infarction, Posterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Infarction, Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Infarctions, Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Vascular Accident Brain Vascular Accident[accessedResource: MSH:D020521][accessDate: 05-04-2011] Brain Vascular Accidents Brain Vascular Accidents[accessedResource: MSH:D020521][accessDate: 05-04-2011] Brain Venous Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011] Brain Venous Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011] CEREBROVASCULAR ACCIDENT, (CVA) CEREBROVASCULAR ACCIDENT, (CVA)[accessedResource: NCIt:C3390][accessDate: 05-04-2011] CVA CVA (Cerebrovascular Accident) CVA (Cerebrovascular Accident)[accessedResource: MSH:D020521][accessDate: 05-04-2011] CVA (cerebral vascular accident) CVA (cerebral vascular accident)[accessedResource: DOID:3455][accessDate: 05-04-2011] CVA - Cerebrovascular accident CVA - Cerebrovascular accident unspecified CVA - Cerebrovascular accident unspecified[accessedResource: DOID:3455][accessDate: 05-04-2011] CVA - Cerebrovascular accident[accessedResource: SNOMEDCT:230690007][accessDate: 05-04-2011] CVA, CEREBROVASCULAR ACCIDENT CVA, CEREBROVASCULAR ACCIDENT[accessedResource: NCIt:C3390][accessDate: 05-04-2011] CVA[accessedResource: NCIt:C3390][accessDate: 05-04-2011] CVAs (Cerebrovascular Accident) CVAs (Cerebrovascular Accident)[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebral Stroke Cerebral Stroke[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebral Strokes Cerebral Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular Accident Cerebrovascular Accident, Acute Cerebrovascular Accident, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular Accident[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular Accidents Cerebrovascular Accidents, Acute Cerebrovascular Accidents, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular Accidents[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular Apoplexy Cerebrovascular Apoplexy[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular Apoplexya Cerebrovascular Apoplexya[accessedResource: NIFSTD:birnlex_12783][accessDate: 05-04-2011] Cerebrovascular Stroke Cerebrovascular Stroke[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular Strokes Cerebrovascular Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011] Cerebrovascular accident (disorder) Cerebrovascular accident (disorder) [Ambiguous] Cerebrovascular accident (disorder) [Ambiguous][accessedResource: DOID:3455][accessDate: 05-04-2011] Cerebrovascular accident (disorder)[accessedResource: SNOMEDCT:230690007][accessDate: 05-04-2011] DOID:3455 GeneRIF:11570818 GeneRIF:11822892 GeneRIF:11823528 GeneRIF:11926892 GeneRIF:11935032 GeneRIF:12006921 GeneRIF:12011770 GeneRIF:12038800 GeneRIF:12122874 GeneRIF:12123486 GeneRIF:12140663 GeneRIF:12393616 GeneRIF:12456385 GeneRIF:12464678 GeneRIF:12508918 GeneRIF:12515395 GeneRIF:12586134 GeneRIF:12598732 GeneRIF:12695749 GeneRIF:12843357 GeneRIF:12855940 GeneRIF:12871362 GeneRIF:12907815 GeneRIF:12947326 GeneRIF:14500739 GeneRIF:14500938 GeneRIF:14507642 GeneRIF:14512079 GeneRIF:14517540 GeneRIF:14574075 GeneRIF:14605330 GeneRIF:14643574 GeneRIF:14644079 GeneRIF:14655755 GeneRIF:14671240 GeneRIF:14681304 GeneRIF:14753436 GeneRIF:14753448 GeneRIF:14770184 GeneRIF:14961162 GeneRIF:15009965 GeneRIF:15044955 GeneRIF:15056284 GeneRIF:15080888 GeneRIF:15090053 GeneRIF:15108283 GeneRIF:15114595 GeneRIF:15116266 GeneRIF:15135928 GeneRIF:15138244 GeneRIF:15155526 GeneRIF:15159412 GeneRIF:15178823 GeneRIF:15201542 GeneRIF:15232611 GeneRIF:15272143 GeneRIF:15277638 GeneRIF:15341589 GeneRIF:15456942 GeneRIF:15494442 GeneRIF:15516929 GeneRIF:15567334 GeneRIF:15576653 GeneRIF:15613145 GeneRIF:15623683 GeneRIF:15634282 GeneRIF:15640973 GeneRIF:15673342 GeneRIF:15677572 GeneRIF:15681302 GeneRIF:15701167 GeneRIF:15725398 GeneRIF:15731479 GeneRIF:15764676 GeneRIF:15790561 GeneRIF:15829914 GeneRIF:15861005 GeneRIF:15890883 GeneRIF:15891996 GeneRIF:15894537 GeneRIF:15896953 GeneRIF:15910856 GeneRIF:15914769 GeneRIF:15916851 GeneRIF:15935385 GeneRIF:15947254 GeneRIF:15947272 GeneRIF:16020760 GeneRIF:16051894 GeneRIF:16051896 GeneRIF:16051899 GeneRIF:16085363 GeneRIF:16109906 GeneRIF:16131797 GeneRIF:16131798 GeneRIF:16141422 GeneRIF:16165118 GeneRIF:16179580 GeneRIF:16237435 GeneRIF:16262627 INFARCT ANTERIOR CEREBRAL CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011] INFARCT ANTERIOR CIRC BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011] INFARCT BRAIN ANTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011] INFARCT BRAIN POSTERIOR CIRC[accessedResource: MSH:D020520][accessDate: 05-04-2011] INFARCT LACUNAR[accessedResource: MSH:D020520][accessDate: 05-04-2011] INFARCT POSTERIOR CIRC BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Anterior Cerebral Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Anterior Circulation, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Brain Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Brain, Anterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Brain, Posterior Circulation[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Lacunar[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Posterior Circulation, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarction, Venous Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarctions, Brain Venous[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarctions, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarctions, Lacunar[accessedResource: MSH:D020520][accessDate: 05-04-2011] Infarctions, Venous Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] James Malone Lacunar Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011] Lacunar Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011] MSH:D020520 MSH:D020521 NCIt:C3390 NIFSTD:birnlex_12783 OMIM:601367 POSTERIOR CIRC BRAIN INFARCT[accessedResource: MSH:D020520][accessDate: 05-04-2011] POSTERIOR CIRC INFARCT BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011] Posterior Circulation Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011] Posterior Circulation Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] SNOMEDCT:230690007 SNOMEDCT:270883006 SNOMEDCT:313267000 STROKE SYNDROME STROKE SYNDROME[accessedResource: NCIt:C3390][accessDate: 05-04-2011] SYNDROME, STROKE SYNDROME, STROKE[accessedResource: NCIt:C3390][accessDate: 05-04-2011] Stroke NOS Stroke NOS (disorder) Stroke NOS (disorder)[accessedResource: SNOMEDCT:313267000][accessDate: 05-04-2011] Stroke NOS[accessedResource: SNOMEDCT:313267000][accessDate: 05-04-2011] Stroke and cerebrovascular accident unspecified Stroke and cerebrovascular accident unspecified (disorder) Stroke and cerebrovascular accident unspecified (disorder)[accessedResource: SNOMEDCT:270883006][accessDate: 05-04-2011] Stroke and cerebrovascular accident unspecified[accessedResource: SNOMEDCT:270883006][accessDate: 05-04-2011] Stroke, Acute Stroke, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011] Stroke, Cerebral Stroke, Cerebral[accessedResource: MSH:D020521][accessDate: 05-04-2011] Stroke, Cerebrovascular Stroke, Cerebrovascular[accessedResource: MSH:D020521][accessDate: 05-04-2011] Stroke/CVA - undefined Strokes Strokes, Acute Strokes, Acute[accessedResource: MSH:D020521][accessDate: 05-04-2011] Strokes, Cerebral Strokes, Cerebral[accessedResource: MSH:D020521][accessDate: 05-04-2011] Strokes, Cerebrovascular Strokes, Cerebrovascular[accessedResource: MSH:D020521][accessDate: 05-04-2011] Strokes[accessedResource: MSH:D020521][accessDate: 05-04-2011] Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.[accessedResource: MSH:D020520][accessDate: 05-04-2011] Tomasz Adamusiak VENOUS INFARCT BRAIN[accessedResource: MSH:D020520][accessDate: 05-04-2011] Vascular Accident, Brain Vascular Accident, Brain[accessedResource: MSH:D020521][accessDate: 05-04-2011] Vascular Accidents, Brain Vascular Accidents, Brain[accessedResource: MSH:D020521][accessDate: 05-04-2011] Venous Brain Infarction[accessedResource: MSH:D020520][accessDate: 05-04-2011] Venous Brain Infarctions[accessedResource: MSH:D020520][accessDate: 05-04-2011] Venous Infarction, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] Venous Infarctions, Brain[accessedResource: MSH:D020520][accessDate: 05-04-2011] ischemic stroke true subarachnoid hemorrhage Aneurysmal Subarachnoid Hemorrhage Aneurysmal Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011] Aneurysmal Subarachnoid Hemorrhages Aneurysmal Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011] Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status. Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status.[accessedResource: MSH:D013345][accessDate: 05-04-2011] DOID:11236 GeneRIF:12677022 GeneRIF:14753493 GeneRIF:15091109 GeneRIF:15297630 GeneRIF:15331787 GeneRIF:15381648 GeneRIF:15665056 GeneRIF:15947258 GeneRIF:15947264 Hemorrhage, Aneurysmal Subarachnoid Hemorrhage, Aneurysmal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhage, Intracranial Subarachnoid Hemorrhage, Intracranial Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhage, Perinatal Subarachnoid Hemorrhage, Perinatal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhage, Spontaneous Subarachnoid Hemorrhage, Spontaneous Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhage, Subarachnoid Hemorrhage, Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhages, Aneurysmal Subarachnoid Hemorrhages, Aneurysmal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhages, Intracranial Subarachnoid Hemorrhages, Intracranial Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhages, Perinatal Subarachnoid Hemorrhages, Perinatal Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhages, Spontaneous Subarachnoid Hemorrhages, Spontaneous Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] Hemorrhages, Subarachnoid Hemorrhages, Subarachnoid[accessedResource: MSH:D013345][accessDate: 05-04-2011] ICD9:430 Intracranial Subarachnoid Hemorrhage Intracranial Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011] Intracranial Subarachnoid Hemorrhages Intracranial Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011] James Malone MSH:D013345 Perinatal Subarachnoid Hemorrhage Perinatal Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011] Perinatal Subarachnoid Hemorrhages Perinatal Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011] SAH (Subarachnoid Hemorrhage) SAH (Subarachnoid Hemorrhage)[accessedResource: MSH:D013345][accessDate: 05-04-2011] SAH - Subarachnoid haemorrhage SAH - Subarachnoid haemorrhage[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011] SAH - Subarachnoid hemorrhage SAH - Subarachnoid hemorrhage[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011] SAHs (Subarachnoid Hemorrhage) SAHs (Subarachnoid Hemorrhage)[accessedResource: MSH:D013345][accessDate: 05-04-2011] SNOMEDCT:195162008 SNOMEDCT:21454007 Spontaneous Subarachnoid Hemorrhage Spontaneous Subarachnoid Hemorrhage[accessedResource: MSH:D013345][accessDate: 05-04-2011] Spontaneous Subarachnoid Hemorrhages Spontaneous Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhage, Aneurysmal Subarachnoid Hemorrhage, Aneurysmal[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhage, Intracranial Subarachnoid Hemorrhage, Intracranial[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhage, Perinatal Subarachnoid Hemorrhage, Perinatal[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhage, Spontaneous Subarachnoid Hemorrhage, Spontaneous[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhages Subarachnoid Hemorrhages, Aneurysmal Subarachnoid Hemorrhages, Aneurysmal[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhages, Intracranial Subarachnoid Hemorrhages, Intracranial[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhages, Perinatal Subarachnoid Hemorrhages, Perinatal[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhages, Spontaneous Subarachnoid Hemorrhages, Spontaneous[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid Hemorrhages[accessedResource: MSH:D013345][accessDate: 05-04-2011] Subarachnoid aneurysmal hemorrhage Subarachnoid haemorrhage Subarachnoid haemorrhage NOS Subarachnoid haemorrhage NOS[accessedResource: SNOMEDCT:195162008][accessDate: 05-04-2011] Subarachnoid haemorrhage[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011] Subarachnoid hemorrhage (disorder) Subarachnoid hemorrhage (disorder)[accessedResource: SNOMEDCT:21454007][accessDate: 05-04-2011] Subarachnoid hemorrhage NOS Subarachnoid hemorrhage NOS (disorder) Subarachnoid hemorrhage NOS (disorder)[accessedResource: SNOMEDCT:195162008][accessDate: 05-04-2011] Subarachnoid hemorrhage NOS[accessedResource: SNOMEDCT:195162008][accessDate: 05-04-2011] true survival time James Malone PERSON: James Malone Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease. survival true time of survival survival probability James Malone The probabilty of continuance of life or existence especially under adverse conditions; Probably need a parent survival metric or similar obsolete_syndrome 2.5 A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. James Malone NCI Metathesaurus http://ncimeta.nci.nih.gov/MetaServlet/ResultServlet?cui=C0039082 Date accessed: 30th October 2007 doesnt' fit in the revised disease classification true systemic scleroderma A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA. A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.[accessedResource: MSH:D012595][accessDate: 05-04-2011] A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.[accessedResource: DOID:418][accessDate: 05-04-2011] DOID:418 GeneRIF:11796184 GeneRIF:11904440 GeneRIF:12007723 GeneRIF:12009077 GeneRIF:12015245 GeneRIF:12091308 GeneRIF:12233882 GeneRIF:12374741 GeneRIF:12388554 GeneRIF:12493731 GeneRIF:12508774 GeneRIF:12528118 GeneRIF:12528119 GeneRIF:12609057 GeneRIF:12618866 GeneRIF:12629514 GeneRIF:12692352 GeneRIF:12757775 GeneRIF:12777465 GeneRIF:12784398 GeneRIF:12839562 GeneRIF:12843267 GeneRIF:12847691 GeneRIF:12847692 GeneRIF:12858451 GeneRIF:12888869 GeneRIF:12913118 GeneRIF:12925209 GeneRIF:14613297 GeneRIF:14613485 GeneRIF:14662895 GeneRIF:14705223 GeneRIF:14705224 GeneRIF:14722617 GeneRIF:14729510 GeneRIF:14730619 GeneRIF:14730633 GeneRIF:14764526 GeneRIF:14872500 GeneRIF:15068249 GeneRIF:15110723 GeneRIF:15146426 GeneRIF:15146427 GeneRIF:15149850 GeneRIF:15215176 GeneRIF:15247510 GeneRIF:15345711 GeneRIF:15468358 GeneRIF:15471851 GeneRIF:15500643 GeneRIF:15593213 GeneRIF:15622541 GeneRIF:15641797 GeneRIF:15654958 GeneRIF:15722417 GeneRIF:15797863 GeneRIF:15818662 GeneRIF:15833746 GeneRIF:15855645 GeneRIF:15896720 GeneRIF:16025105 GeneRIF:16049784 GeneRIF:16081426 GeneRIF:16081813 GeneRIF:16098034 GeneRIF:16109415 GeneRIF:16112028 ICD9:710.1 James Malone MSH:D012595 PSS (progressive systemic sclerosis) PSS (progressive systemic sclerosis)[accessedResource: DOID:418][accessDate: 05-04-2011] PSS - Progressive systemic sclerosis PSS - Progressive systemic sclerosis[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011] Progressive systemic sclerosis Progressive systemic sclerosis[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011] SNOMEDCT:89155008 SS - Systemic sclerosis SS - Systemic sclerosis[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011] Scleroderma Scleroderma (& [systemic sclerosis]) Scleroderma (& [systemic sclerosis])[accessedResource: DOID:418][accessDate: 05-04-2011] Scleroderma syndrome Scleroderma syndrome[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011] Scleroderma, Systemic Scleroderma, Systemic[accessedResource: MSH:D012595][accessDate: 05-04-2011] Scleroderma[accessedResource: DOID:418][accessDate: 05-04-2011] Sclerosis, Systemic Sclerosis, Systemic[accessedResource: MSH:D012595][accessDate: 05-04-2011] Systemic Sclerosis[accessedResource: MSH:D012595][accessDate: 05-04-2011] Systemic sclerosis Systemic sclerosis (disorder) Systemic sclerosis (disorder)[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011] Thibierge-Weissenbach syndrome Thibierge-Weissenbach syndrome[accessedResource: SNOMEDCT:89155008][accessDate: 05-04-2011] true exposure temperature James Malone The temperature that a material is exposed to. temporal measurement A temporal entity is an entity that has temporal parts and that happens, unfolds or develops through time. An occurrent is something which exists over time, rather than existing completely at many times Derived from BFO: Occurrent James Malone The life of an organism, a surgical operation as processual context for a nosocomical infection, the spatiotemporal context occupied by a process of cellular meiosis, the spatiotemporal region occupied by the development of a cancer tumor. test result The recorded value of the outcome of some test. time James Malone obsolete_time before disease progression James Malone candidate for deprecation created as a synonym of progression free survival true syn of disease free survival obsolete_time to development of distant metastases James Malone synonym of distant metastasis free survival Created as a synonym of distant metastasis free survival instead, more commonly used term. true timepoint James Malone Jie Zheng MO_738 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#timepoint Time point at which a sample or observation is made or taken from a biomaterial as measured from some reference point. transfection James Malone Jie Zheng MO_849 The process of bringing about genetic alteration of any cell or organism by a variety of means including recombinant DNA technology, viruses, chemical mutagens and X-rays. Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#transfect transfect transfect[accessedResource: MO_849][accessDate: 05-04-2011] treatment A process in which the act is intended to modify or alter some other material entity, Jie Zheng MO_23 Tomasz Adamusiak true obsolete_tumor 1.8 An abnormal mass of tissue that results from excessive cell division. Tumors perform no useful body function. They may be benign (not cancerous) or malignant (cancerous). Breast_Tumor_Luminal James Malone NCI Metathesaurus merged with neoplasm EFO_0000616 true ulcerative colitis Colitis, Ulcerative Colitis, Ulcerative[accessedResource: MSH:D003093][accessDate: 05-04-2011] DOID:8577 GeneRIF:11737306 GeneRIF:11904678 GeneRIF:11920497 GeneRIF:11953203 GeneRIF:11956656 GeneRIF:11987129 GeneRIF:12011151 GeneRIF:12100519 GeneRIF:12109441 GeneRIF:12112311 GeneRIF:12133437 GeneRIF:12133438 GeneRIF:12139949 GeneRIF:12460892 GeneRIF:12465728 GeneRIF:12486609 GeneRIF:12512026 GeneRIF:12572877 GeneRIF:12598727 GeneRIF:12617879 GeneRIF:12707342 GeneRIF:12725330 GeneRIF:12730867 GeneRIF:12842452 GeneRIF:12878361 GeneRIF:14525977 GeneRIF:14597776 GeneRIF:14611908 GeneRIF:14617036 GeneRIF:14627676 GeneRIF:14669348 GeneRIF:14731353 GeneRIF:15007304 GeneRIF:15046221 GeneRIF:15052696 GeneRIF:15102868 GeneRIF:15146247 GeneRIF:15188158 GeneRIF:15188166 GeneRIF:15248378 GeneRIF:15284119 GeneRIF:15288468 GeneRIF:15292938 GeneRIF:15550998 GeneRIF:15628695 GeneRIF:15655821 GeneRIF:15685540 GeneRIF:15755919 GeneRIF:15793859 GeneRIF:15905704 GeneRIF:15935984 GeneRIF:15944317 GeneRIF:15946916 GeneRIF:15973119 GeneRIF:16015687 GeneRIF:16149136 GeneRIF:16158332 ICD9:556 ICD9:556.9 Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN. Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.[accessedResource: MSH:D003093][accessDate: 05-04-2011] James Malone Left-sided ulcerative (chronic) colitis Left-sided ulcerative colitis Left-sided ulcerative colitis[accessedResource: DOID:8577][accessDate: 05-04-2011] MSH:D003093 OMIM:266600 Other ulcerative colitis Other ulcerative colitis (disorder) Tomasz Adamusiak UC - ulcerative colitis ULCERATVE COLITIS UNSPCF ULCERATVE COLITIS UNSPCF[accessedResource: ICD9:556.9][accessDate: 05-04-2011] Ulcerative colitis, unspecified Ulcerative colitis, unspecified[accessedResource: ICD9:556.9][accessDate: 05-04-2011] true ulcerative colitis (disorder) undifferentiated sarcoma A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age. A rare malignant tumor of the liver, the incidence of which is highest in children between 6 and 10 years of age.[accessedResource: NCIt:C27096][accessDate: 05-04-2011] DOID:6191 Embryonal Sarcoma Embryonal Sarcoma[accessedResource: NCIt:C27096][accessDate: 05-04-2011] Embryonal sarcoma (morphologic abnormality) Embryonal sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:59583009][accessDate: 05-04-2011] James Malone NCIt:C27096 SNOMEDCT:128734000 SNOMEDCT:59583009 Undifferentiated (Embryonal) Sarcoma[accessedResource: NCIt:C27096][accessDate: 05-04-2011] Undifferentiated (Embryonal) sarcoma Undifferentiated sarcoma (morphologic abnormality) Undifferentiated sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:128734000][accessDate: 05-04-2011] uterine fibroid A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.[accessedResource: NCIt:C3434][accessDate: 05-04-2011] A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues. A benign tumor derived from smooth muscle tissue, also known as a fibroid tumor. They rarely occur outside of the UTERUS and the GASTROINTESTINAL TRACT but can occur in the SKIN and SUBCUTANEOUS TISSUE, probably arising from the smooth muscle of small blood vessels in these tissues.[accessedResource: MSH:D007889][accessDate: 05-04-2011] An uncommon benign neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain. Body of Uterus Fibroid Body of Uterus Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Body of Uterus Leiomyoma Body of Uterus Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Corpus Uteri Fibroid Corpus Uteri Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Corpus Uteri Leiomyoma Corpus Uteri Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011] DOID:13223 Fibroid Fibroid Tumor Fibroid Tumor[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibroid Tumors Fibroid Tumors[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibroid of Body of Uterus Fibroid of Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid of Corpus Uteri Fibroid of Corpus Uteri[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid of Uterine Body Fibroid of Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid of Uterine Corpus Fibroid of Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid of the Body of Uterus Fibroid of the Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid of the Corpus Uteri Fibroid of the Corpus Uteri[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid of the Uterine Body Fibroid of the Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid of the Uterine Corpus Fibroid of the Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Fibroid uterus Fibroid uterus[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011] Fibroid, Uterine Fibroid, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibroids Fibroids, Uterine Fibroids, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibroids[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibroleiomyoma Fibroleiomyoma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] Fibroma, Uterine Fibroma, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibromas, Uterine Fibromas, Uterine[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibromyoma Fibromyoma[accessedResource: MSH:D007889][accessDate: 05-04-2011] Fibromyomas Fibromyomas[accessedResource: MSH:D007889][accessDate: 05-04-2011] GeneRIF:11756572 GeneRIF:11788902 GeneRIF:11865300 GeneRIF:12065682 GeneRIF:12097287 GeneRIF:12177782 GeneRIF:12215337 GeneRIF:12548199 GeneRIF:12594000 GeneRIF:12634633 GeneRIF:12634644 GeneRIF:12649198 GeneRIF:12766905 GeneRIF:14557488 GeneRIF:14632190 GeneRIF:14698203 GeneRIF:14995917 GeneRIF:15004438 GeneRIF:15033949 GeneRIF:15051039 GeneRIF:15083381 GeneRIF:15231681 GeneRIF:15322223 GeneRIF:15334541 GeneRIF:15474102 GeneRIF:15536154 GeneRIF:15572421 GeneRIF:15604209 GeneRIF:15704521 GeneRIF:15706419 GeneRIF:15749523 GeneRIF:15769981 GeneRIF:15972578 GeneRIF:16009172 GeneRIF:16024248 ICD9:218 ICD9:218.9 James Malone Leiomyofibroma Leiomyofibroma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] Leiomyoma Leiomyoma of Body of Uterus Leiomyoma of Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Leiomyoma of Uterine Body Leiomyoma of Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Leiomyoma of Uterine Corpus Leiomyoma of Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Leiomyoma of the Body of Uterus Leiomyoma of the Body of Uterus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Leiomyoma of the Corpus Uteri Leiomyoma of the Corpus Uteri[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Leiomyoma of the Uterine Body Leiomyoma of the Uterine Body[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Leiomyoma of the Uterine Corpus Leiomyoma of the Uterine Corpus[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Leiomyoma of uterus, unspecified[accessedResource: ICD9:218.9][accessDate: 05-04-2011] Leiomyoma, NOS Leiomyoma, NOS[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] Leiomyoma, no ICD-O subtype Leiomyoma, no ICD-O subtype (morphologic abnormality) Leiomyoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] Leiomyoma, no ICD-O subtype[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] Leiomyoma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] Leiomyomas Leiomyomas[accessedResource: MSH:D007889][accessDate: 05-04-2011] Lipoleiomyoma Lipoleiomyoma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] MSH:D007889 Myofibroma Myofibroma[accessedResource: SNOMEDCT:44598004][accessDate: 05-04-2011] NCIt:C3434 Plexiform leiomyoma Plexiform leiomyoma[accessedResource: DOID:13223][accessDate: 05-04-2011] SNOMEDCT:189106003 SNOMEDCT:44598004 SNOMEDCT:95315005 Tumor, Fibroid Tumor, Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011] Tumors, Fibroid Tumors, Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011] UTERINE LEIOMYOMA NOS UTERUS FIBROMA UTERUS FIBROMA[accessedResource: DOID:13223][accessDate: 05-04-2011] Uterine Body Fibroid Uterine Body Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Uterine Body Leiomyoma Uterine Body Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Uterine Corpus Fibroid Uterine Corpus Fibroid[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Uterine Corpus Leiomyoma Uterine Corpus Leiomyoma[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Uterine Corpus Leiomyomata Uterine Corpus Leiomyomata[accessedResource: NCIt:C3434][accessDate: 05-04-2011] Uterine Fibroids[accessedResource: MSH:D007889][accessDate: 05-04-2011] Uterine Fibroma Uterine Fibroma[accessedResource: MSH:D007889][accessDate: 05-04-2011] Uterine Fibromas Uterine Fibromas[accessedResource: MSH:D007889][accessDate: 05-04-2011] Uterine fibroids Uterine leiomyoma Uterine leiomyoma (disorder) Uterine leiomyoma - fibroids Uterine leiomyoma - fibroids[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011] Uterine leiomyoma NOS[accessedResource: SNOMEDCT:189106003][accessDate: 05-04-2011] Uterine leiomyoma, NOS Uterine leiomyoma, NOS[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011] Uterine leiomyoma[accessedResource: SNOMEDCT:95315005][accessDate: 05-04-2011] Uterus, Fibroid Uterus, Fibroid[accessedResource: MSH:D007889][accessDate: 05-04-2011] leiomyoma of Corpus Uteri leiomyoma of Corpus Uteri[accessedResource: DOID:13223][accessDate: 05-04-2011] leiomyoma of uterus, unspecified true uterine leiomyoma (disorder)[accessedResource: DOID:13223][accessDate: 05-04-2011] uterine leiomyoma NOS (disorder) uterine leiomyoma NOS (disorder)[accessedResource: DOID:13223][accessDate: 05-04-2011] vehicle role A carrier or inert medium used as a solvent (or diluent) in which some compound is formulated and or administered. James Malone obsolete_virus strain 1.8 James Malone Strain or line specific to virus true vitamin B12 deficiency A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848) A nutritional condition produced by a deficiency of VITAMIN B 12 in the diet, characterized by megaloblastic anemia. Since vitamin B 12 is not present in plants, humans have obtained their supply from animal products, from multivitamin supplements in the form of pills, and as additives to food preparations. A wide variety of neuropsychiatric abnormalities is also seen in vitamin B 12 deficiency and appears to be due to an undefined defect involving myelin synthesis. (From Cecil Textbook of Medicine, 19th ed, p848)[accessedResource: MSH:D014806][accessDate: 05-04-2011] Cobalamin deficiency Cobalamin deficiency (disorder) Cobalamin deficiency (disorder)[accessedResource: DOID:8459][accessDate: 05-04-2011] Cobalamin deficiency[accessedResource: SNOMEDCT:190634004][accessDate: 05-04-2011] DEFIC VITAMIN B 12 DEFIC VITAMIN B 12[accessedResource: MSH:D014806][accessDate: 05-04-2011] DEFIC VITAMIN B12 DEFIC VITAMIN B12[accessedResource: MSH:D014806][accessDate: 05-04-2011] DOID:8459 Deficiencies, Vitamin B12 Deficiencies, Vitamin B12[accessedResource: MSH:D014806][accessDate: 05-04-2011] Deficiency of vitamin B12 Deficiency of vitamin B12[accessedResource: SNOMEDCT:190634004][accessDate: 05-04-2011] Deficiency of vitamin B<sub>12</sub> Deficiency of vitamin B<sub>12</sub>[accessedResource: SNOMEDCT:190634004][accessDate: 05-04-2011] Deficiency of vitamin B>12< Deficiency of vitamin B>12< (disorder) Deficiency of vitamin B>12<[accessedResource: SNOMEDCT:190634004][accessDate: 05-04-2011] Deficiency, Vitamin B 12 Deficiency, Vitamin B 12[accessedResource: MSH:D014806][accessDate: 05-04-2011] Deficiency, Vitamin B12 Deficiency, Vitamin B12[accessedResource: MSH:D014806][accessDate: 05-04-2011] James Malone MSH:D014806 OMIM:193090 SNOMEDCT:190634004 Tomasz Adamusiak VITAMIN B 12 DEFIC VITAMIN B 12 DEFIC[accessedResource: MSH:D014806][accessDate: 05-04-2011] VITAMIN B A 12 DEFICIENCY VITAMIN B A 12 DEFICIENCY[accessedResource: MSH:D014806][accessDate: 05-04-2011] VITAMIN B12 DEFIC VITAMIN B12 DEFIC[accessedResource: MSH:D014806][accessDate: 05-04-2011] Vitamin B 12 Deficiency Vitamin B12 Deficiencies Vitamin B12 Deficiencies[accessedResource: MSH:D014806][accessDate: 05-04-2011] deficiency of vitamin B>12< (disorder)[accessedResource: DOID:8459][accessDate: 05-04-2011] vitamin B 12 deficiency[accessedResource: DOID:8459][accessDate: 05-04-2011] washing James Malone The process of applying a solvent (e.g. water) or some solution (e.g. SSC/SDS) to a BioMaterial or an array to remove impurities or unwanted compounds. well-differentiated liposarcoma A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation. A locally aggressive malignant neoplasm composed of mature adipocytes showing cell size variation and nuclear atypia. It is often associated with the presence of hyperchromatic multinucleated stromal cells, and varying numbers of lipoblasts. There are three histologic subtypes, sclerosing, inflammatory, and spindle cell liposarcoma. These tumors do not usually metastasize unless they undergo dedifferentiation.[accessedResource: NCIt:C4250][accessDate: 05-04-2011] James Malone NCIt:C4250 Tomasz Adamusiak Well Differentiated Liposarcoma Well Differentiated Liposarcoma[accessedResource: NCIt:C4250][accessDate: 05-04-2011] well-differentiated sarcoma James Malone obsolete_white blood cell A nucleated cell of the myeloid or lymphoid lineages, found in blood or other tissue. CL:0000738 James Malone true use leukocyte EFO_0000566 proteomic profiling An assay where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling Antibody profiling experiment ArrayExpress production team James Malone Proteomic profiling antigen profiling An assay where an antigen array is used (antigens deposited on the array) to detect, quantify or otherwise analyse antibodies in solution. ArrayExpress production team James Malone Antigen profiling ChIP-Chip <WEB> http://en.wikipedia.org/wiki/ChIP-on-chip An experiment where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology. James Malone comparative genomic hybridization by array An assay in which changes in DNA sequence copy number are analysed using a microarray. For example the analysis of LOH in tumor cells vs a non diseased sample or the comparison of clinical isolated of disease causing bacteria. ArrayExpress production team James Malone CGH by array genotyping An assay in which variation in the genome is analysed ArrayExpress production team James Malone Genotyping methylation profiling An assay in which the methylation state is determined and is compared between samples. ArrayExpress production team James Malone Methylation profiling metabolomic profiling An assay in which one or more metabolites are analysed. ArrayExpress production team James Malone metabolimic profiling Metabolomic profiling microRNA profiling by array An assay in which a microRNA array is used to analyse the microRNA component of the transcriptome. ArrayExpress production team James Malone MicroRNA profiling by array obsolete_re-sequencing 1.8 An experiment in which re-sequencing technology (Solexa/454) is used to generate sequence which can be used to determine nucleic acid sequence, analyse the transcibed regions of the genome, or to quantitate transcript abundance ArrayExpress production team James Malone Split into two terms. RNA-seq and DNA-seq true obsolete_colorectal carcinoma 2.6.1 James Malone Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma true melanoma A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445) A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)[accessedResource: MSH:D008545][accessDate: 05-04-2011] A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain. A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.[accessedResource: NCIt:C3224][accessDate: 05-04-2011] DOID:1909 GeneRIF:10449755 GeneRIF:11500805 GeneRIF:11500806 GeneRIF:11781826 GeneRIF:11801603 GeneRIF:11807902 GeneRIF:11809675 GeneRIF:11812790 GeneRIF:11822878 GeneRIF:11828253 GeneRIF:11828257 GeneRIF:11828258 GeneRIF:11830592 GeneRIF:11839575 GeneRIF:11844832 GeneRIF:11884449 GeneRIF:11891198 GeneRIF:11918086 GeneRIF:11930117 GeneRIF:11936276 GeneRIF:11959101 GeneRIF:11962515 GeneRIF:11962738 GeneRIF:11992404 GeneRIF:11992541 GeneRIF:11992548 GeneRIF:11996105 GeneRIF:12014625 GeneRIF:12017286 GeneRIF:12018852 GeneRIF:12021307 GeneRIF:12028585 GeneRIF:12036934 GeneRIF:12058259 GeneRIF:12060397 GeneRIF:12067988 GeneRIF:12068308 GeneRIF:12072536 GeneRIF:12072543 GeneRIF:12074634 GeneRIF:12080186 GeneRIF:12082534 GeneRIF:12086670 GeneRIF:12095976 GeneRIF:12096926 GeneRIF:12107107 GeneRIF:12115481 GeneRIF:12124804 GeneRIF:12140376 GeneRIF:12140378 GeneRIF:12140380 GeneRIF:12140383 GeneRIF:12161512 GeneRIF:12168790 GeneRIF:12170178 GeneRIF:12170182 GeneRIF:12170183 GeneRIF:12183361 GeneRIF:12189238 GeneRIF:12198771 GeneRIF:12208865 GeneRIF:12208877 GeneRIF:12209993 GeneRIF:12218055 GeneRIF:12230495 GeneRIF:12230496 GeneRIF:12230498 GeneRIF:12235125 GeneRIF:12239452 GeneRIF:12243754 GeneRIF:12296515 GeneRIF:12362978 GeneRIF:12366697 GeneRIF:12376466 GeneRIF:12384558 GeneRIF:12405287 GeneRIF:12438452 GeneRIF:12439754 GeneRIF:12445207 GeneRIF:12454511 GeneRIF:12459643 GeneRIF:12459645 GeneRIF:12459646 GeneRIF:12482591 GeneRIF:12485936 GeneRIF:12490317 GeneRIF:12516095 GeneRIF:12530093 GeneRIF:12533668 GeneRIF:12538712 GeneRIF:12538723 GeneRIF:12579526 GeneRIF:12606943 GeneRIF:12618768 GeneRIF:12619120 GeneRIF:12631591 GeneRIF:12650602 GeneRIF:12650606 GeneRIF:12655789 GeneRIF:12664607 GeneRIF:12665595 GeneRIF:12670907 GeneRIF:12670917 GeneRIF:12682852 GeneRIF:12684636 GeneRIF:12687014 GeneRIF:12696065 GeneRIF:12702150 GeneRIF:12704387 GeneRIF:12706526 GeneRIF:12710945 GeneRIF:12716902 GeneRIF:12729801 GeneRIF:12736724 GeneRIF:12747754 GeneRIF:12750156 GeneRIF:12759390 GeneRIF:12777976 GeneRIF:12777979 GeneRIF:12777984 GeneRIF:12783933 GeneRIF:12789289 GeneRIF:12793438 GeneRIF:12810628 GeneRIF:12821780 GeneRIF:12823444 GeneRIF:12824159 GeneRIF:12839565 GeneRIF:12848854 GeneRIF:12850810 GeneRIF:12855667 GeneRIF:12875987 GeneRIF:12883358 GeneRIF:12883362 GeneRIF:12883368 GeneRIF:12894561 GeneRIF:12920221 GeneRIF:12920225 GeneRIF:12927791 GeneRIF:12939282 GeneRIF:12949795 GeneRIF:12950144 GeneRIF:12950721 GeneRIF:12958194 GeneRIF:12972299 GeneRIF:14500642 GeneRIF:14506702 GeneRIF:14508519 GeneRIF:14522897 GeneRIF:14555513 GeneRIF:14559981 GeneRIF:14581607 GeneRIF:14583455 GeneRIF:14585195 GeneRIF:14602237 GeneRIF:14612926 GeneRIF:14618632 GeneRIF:14630948 GeneRIF:14632199 GeneRIF:14634801 GeneRIF:14646619 GeneRIF:14666660 GeneRIF:14675203 GeneRIF:14676121 GeneRIF:14695152 GeneRIF:14696968 GeneRIF:14704859 GeneRIF:14713106 GeneRIF:14719109 GeneRIF:14726258 GeneRIF:14727087 GeneRIF:14729600 GeneRIF:14732231 GeneRIF:14735200 GeneRIF:14744083 GeneRIF:14757863 GeneRIF:14961576 GeneRIF:14962105 GeneRIF:14991539 GeneRIF:14999777 GeneRIF:15001714 GeneRIF:15009102 GeneRIF:15009113 GeneRIF:15009703 GeneRIF:15009714 GeneRIF:15009718 GeneRIF:15009721 GeneRIF:15009726 GeneRIF:15009731 GeneRIF:15014019 GeneRIF:15014028 GeneRIF:15024079 GeneRIF:15024080 GeneRIF:15024700 GeneRIF:15026369 GeneRIF:15064726 GeneRIF:15073111 GeneRIF:15093732 GeneRIF:15107545 GeneRIF:15133491 GeneRIF:15140228 GeneRIF:15140234 GeneRIF:15146471 GeneRIF:15149859 GeneRIF:15150307 GeneRIF:15161053 GeneRIF:15161700 GeneRIF:15166498 GeneRIF:15179189 GeneRIF:15179190 GeneRIF:15184373 GeneRIF:15187113 GeneRIF:15191558 GeneRIF:15201991 GeneRIF:15201995 GeneRIF:15208686 GeneRIF:15210734 GeneRIF:15210957 GeneRIF:15221796 GeneRIF:15257316 GeneRIF:15265913 GeneRIF:15273735 GeneRIF:15277467 GeneRIF:15299072 GeneRIF:15305153 GeneRIF:15305155 GeneRIF:15305164 GeneRIF:15305193 GeneRIF:15313890 GeneRIF:15328193 GeneRIF:15330192 GeneRIF:15362372 GeneRIF:15366927 GeneRIF:15373779 GeneRIF:15373781 GeneRIF:15373782 GeneRIF:15373802 GeneRIF:15383569 GeneRIF:15386421 GeneRIF:15466193 GeneRIF:15469480 GeneRIF:15475451 GeneRIF:15491322 GeneRIF:15492257 GeneRIF:15492811 GeneRIF:15509546 GeneRIF:15547691 GeneRIF:15551350 GeneRIF:15557124 GeneRIF:15557758 GeneRIF:15564140 GeneRIF:15572761 GeneRIF:15577313 GeneRIF:15577328 GeneRIF:15592448 GeneRIF:15607961 GeneRIF:15608673 GeneRIF:15610524 GeneRIF:15610525 GeneRIF:15610528 GeneRIF:15618925 GeneRIF:15634901 GeneRIF:15645118 GeneRIF:15649154 GeneRIF:15657897 GeneRIF:15688405 GeneRIF:15694309 GeneRIF:15714116 GeneRIF:15714119 GeneRIF:15716025 GeneRIF:15721302 GeneRIF:15724013 GeneRIF:15743794 GeneRIF:15743795 GeneRIF:15753377 GeneRIF:15760339 GeneRIF:15781639 GeneRIF:15782137 GeneRIF:15809735 GeneRIF:15814740 GeneRIF:15816840 GeneRIF:15817166 GeneRIF:15827341 GeneRIF:15832174 GeneRIF:15832175 GeneRIF:15832775 GeneRIF:15833878 GeneRIF:15834638 GeneRIF:15843517 GeneRIF:15843590 GeneRIF:15848191 GeneRIF:15851010 GeneRIF:15855653 GeneRIF:15856016 GeneRIF:15856458 GeneRIF:15856464 GeneRIF:15869411 GeneRIF:15880581 GeneRIF:15880589 GeneRIF:15897876 GeneRIF:15897908 GeneRIF:15907783 GeneRIF:15955106 GeneRIF:15955107 GeneRIF:15979576 GeneRIF:15983061 GeneRIF:15987741 GeneRIF:15991050 GeneRIF:15993843 GeneRIF:15998788 GeneRIF:15998953 GeneRIF:15999103 GeneRIF:16007121 GeneRIF:16008690 GeneRIF:16021575 GeneRIF:16033529 GeneRIF:16040804 GeneRIF:16081848 GeneRIF:16098042 GeneRIF:16098052 GeneRIF:16103065 GeneRIF:16129781 GeneRIF:16140982 GeneRIF:16189525 GeneRIF:16211213 GeneRIF:16232302 GeneRIF:16234564 GeneRIF:16272362 GeneRIF:16277028 GeneRIF:16354196 James Malone MM - Malignant melanoma MM - Malignant melanoma[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011] MSH:D008545 Malignant Melanoma Malignant Melanomas Malignant Melanomas[accessedResource: MSH:D008545][accessDate: 05-04-2011] Malignant melanoma (disorder)[accessedResource: SNOMEDCT:372244006][accessDate: 05-04-2011] Malignant melanoma (morphologic abnormality) Malignant melanoma (morphologic abnormality)[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011] Malignant melanoma, NOS Malignant melanoma, NOS[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011] Malignant melanoma, morphology (morphologic abnormality) Malignant melanoma, no ICD-O subtype Malignant melanoma, no ICD-O subtype (morphologic abnormality) Malignant melanoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011] Malignant melanoma, no ICD-O subtype[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011] Malignant melanoma[accessedResource: SNOMEDCT:372244006][accessDate: 05-04-2011] Melanoma, Malignant Melanoma, Malignant[accessedResource: MSH:D008545][accessDate: 05-04-2011] Melanoma, NOS Melanoma, NOS[accessedResource: SNOMEDCT:2092003][accessDate: 05-04-2011] Melanomas Melanomas, Malignant Melanomas, Malignant[accessedResource: MSH:D008545][accessDate: 05-04-2011] Melanomas[accessedResource: MSH:D008545][accessDate: 05-04-2011] Melanosarcoma Melanosarcoma[accessedResource: SNOMEDCT:372244006][accessDate: 05-04-2011] NCIt:C3224 Naevocarcinoma Naevocarcinoma[accessedResource: DOID:1909][accessDate: 05-04-2011] OMIM:155600 SNOMEDCT:2092003 SNOMEDCT:269503007 SNOMEDCT:372244006 Tomasz Adamusiak [M]Malignant melanoma NOS [M]Malignant melanoma NOS (morphologic abnormality) [M]Malignant melanoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:269503007][accessDate: 05-04-2011] [M]Malignant melanoma NOS[accessedResource: SNOMEDCT:269503007][accessDate: 05-04-2011] malignant melanoma (disorder) malignant melanoma NOS (morphologic abnormality) malignant melanoma NOS (morphologic abnormality)[accessedResource: DOID:1909][accessDate: 05-04-2011] malignant melanoma, morphology (morphologic abnormality)[accessedResource: DOID:1909][accessDate: 05-04-2011] true obsolete_muscular dystrophy A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.[accessedResource: MSH:D009136][accessDate: 05-04-2011] An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement. An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.[accessedResource: DOID:9884][accessDate: 05-04-2011] DOID:9884 Dystrophies, Muscular Dystrophies, Muscular[accessedResource: MSH:D009136][accessDate: 05-04-2011] Dystrophy, Muscular Dystrophy, Muscular[accessedResource: MSH:D009136][accessDate: 05-04-2011] GeneRIF:11792810 GeneRIF:11829483 GeneRIF:12011280 GeneRIF:12057917 GeneRIF:12091319 GeneRIF:12145747 GeneRIF:12189167 GeneRIF:12192640 GeneRIF:12196663 GeneRIF:12387816 GeneRIF:12609502 GeneRIF:12609503 GeneRIF:12654965 GeneRIF:12657835 GeneRIF:12736685 GeneRIF:12783988 GeneRIF:12798793 GeneRIF:14512171 GeneRIF:14652796 GeneRIF:14741210 GeneRIF:14985349 GeneRIF:15221789 GeneRIF:15365169 GeneRIF:15371336 GeneRIF:15668457 GeneRIF:15833432 GeneRIF:15848172 GeneRIF:16084089 GeneRIF:16098969 GeneRIF:16115818 GeneRIF:16130093 GeneRIF:16286249 HERED PROG MUSC DYSTRPHY HERED PROG MUSC DYSTRPHY[accessedResource: ICD9:359.1][accessDate: 05-04-2011] Hereditary progressive muscular dystrophy Hereditary progressive muscular dystrophy (disorder) Hereditary progressive muscular dystrophy (disorder)[accessedResource: SNOMEDCT:193225000][accessDate: 05-04-2011] Hereditary progressive muscular dystrophy NOS Hereditary progressive muscular dystrophy NOS (disorder) Hereditary progressive muscular dystrophy NOS (disorder)[accessedResource: SNOMEDCT:193236007][accessDate: 05-04-2011] Hereditary progressive muscular dystrophy NOS[accessedResource: SNOMEDCT:193236007][accessDate: 05-04-2011] Hereditary progressive muscular dystrophy[accessedResource: ICD9:359.1][accessDate: 05-04-2011] ICD9:359.1 James Malone MD - Muscular dystrophy MD - Muscular dystrophy[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011] MSH:D009136 Muscular Dystrophies Muscular Dystrophies[accessedResource: MSH:D009136][accessDate: 05-04-2011] Muscular dystrophy (disorder) Muscular dystrophy (disorder)[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011] Muscular dystrophy, NOS Muscular dystrophy, NOS[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011] Myodystrophica Myodystrophica[accessedResource: MSH:D009136][accessDate: 05-04-2011] Myodystrophicas Myodystrophicas[accessedResource: MSH:D009136][accessDate: 05-04-2011] Myodystrophies Myodystrophies[accessedResource: MSH:D009136][accessDate: 05-04-2011] Myodystrophy Myodystrophy[accessedResource: MSH:D009136][accessDate: 05-04-2011] PMD - Progressive muscular dystrophy PMD - Progressive muscular dystrophy[accessedResource: SNOMEDCT:73297009][accessDate: 05-04-2011] Progressive muscular dystrophy SNOMEDCT:193225000 SNOMEDCT:193236007 SNOMEDCT:73297009 true use 'http://www.orphanet.org/rdfns#pat_id_13490' instead. New Label : Muscular dystrophy 2.32 obsolete_limb-girdle muscular dystrophy A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles). A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).[accessedResource: MSH:D049288][accessDate: 05-04-2011] DOID:11724 Erb's muscular dystrophy GeneRIF:11741828 GeneRIF:11822024 GeneRIF:11891182 GeneRIF:12032588 GeneRIF:12428213 GeneRIF:12499399 GeneRIF:14600260 GeneRIF:14981167 GeneRIF:15087111 GeneRIF:15351423 GeneRIF:15385448 GeneRIF:16344347 James Malone Leyden-Mbius muscular dystrophy Leyden-Mbius muscular dystrophy[accessedResource: DOID:11724][accessDate: 05-04-2011] Leyden-Mobius muscular dystrophy Leyden-Mobius muscular dystrophy[accessedResource: SNOMEDCT:93153005][accessDate: 05-04-2011] Limb Girdle Muscular Dystrophies Limb Girdle Muscular Dystrophies[accessedResource: MSH:D049288][accessDate: 05-04-2011] Limb-Girdle Muscular Dystrophies[accessedResource: MSH:D049288][accessDate: 05-04-2011] Limb-girdle muscular dystrophy (disorder) Limb-girdle muscular dystrophy (disorder)[accessedResource: SNOMEDCT:93153005][accessDate: 05-04-2011] MSH:D049288 Muscular Dystrophies, Limb Girdle Muscular Dystrophies, Limb Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011] Muscular Dystrophies, Limb-Girdle Muscular Dystrophies, Limb-Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011] Muscular Dystrophy, Limb Girdle Muscular Dystrophy, Limb Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011] Muscular Dystrophy, Limb-Girdle[accessedResource: MSH:D049288][accessDate: 05-04-2011] Muscular dystrophy, limb-girdle OMIM:253600 SNOMEDCT:93153005 Tomasz Adamusiak calpainopathy limb girdle muscular dystrophy limb girdle muscular dystrophy[accessedResource: DOID:11724][accessDate: 05-04-2011] limb-girdle muscular dystrophies true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_8734' instead. New Label : Limb-girdle muscular dystrophy lipoma A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue. A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.[accessedResource: NCIt:C3192][accessDate: 05-04-2011] DOID:9291 GeneRIF:12970064 ICD9:214 ICD9:214.1 ICD9:214.8 ICD9:214.9 James Malone LIPOMA NEC LIPOMA NEC[accessedResource: ICD9:214.8][accessDate: 05-04-2011] LIPOMA NOS LIPOMA SKIN NEC LIPOMA SKIN NEC[accessedResource: ICD9:214.1][accessDate: 05-04-2011] LIPOMATOSIS, FAMILIAL MULTIPLE LIPOMATOSIS, FAMILIAL MULTIPLE[accessedResource: DOID:9291][accessDate: 05-04-2011] Lipoma (clinical) Lipoma (clinical)[accessedResource: SNOMEDCT:93163002][accessDate: 05-04-2011] Lipoma (disorder) Lipoma (disorder)[accessedResource: SNOMEDCT:93163002][accessDate: 05-04-2011] Lipoma NOS (disorder) Lipoma NOS (disorder)[accessedResource: SNOMEDCT:189018005][accessDate: 05-04-2011] Lipoma NOS[accessedResource: SNOMEDCT:189018005][accessDate: 05-04-2011] Lipoma of other skin and subcutaneous tissue Lipoma of other skin and subcutaneous tissue[accessedResource: ICD9:214.1][accessDate: 05-04-2011] Lipoma of other specified sites Lipoma of other specified sites (disorder) Lipoma of other specified sites (disorder)[accessedResource: SNOMEDCT:189013001][accessDate: 05-04-2011] Lipoma of other specified sites[accessedResource: ICD9:214.8][accessDate: 05-04-2011] Lipoma of unspecified body site Lipoma of unspecified body site[accessedResource: SNOMEDCT:93163002][accessDate: 05-04-2011] Lipoma, NOS Lipoma, NOS[accessedResource: SNOMEDCT:46720004][accessDate: 05-04-2011] Lipoma, no ICD-O subtype Lipoma, no ICD-O subtype (morphologic abnormality) Lipoma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:46720004][accessDate: 05-04-2011] Lipoma, no ICD-O subtype[accessedResource: SNOMEDCT:46720004][accessDate: 05-04-2011] Lipoma, unspecified site Lipoma, unspecified site[accessedResource: ICD9:214.9][accessDate: 05-04-2011] NCIt:C3192 OMIM:151900 SNOMEDCT:189013001 SNOMEDCT:189018005 SNOMEDCT:189776008 SNOMEDCT:46720004 SNOMEDCT:93163002 Tomasz Adamusiak [M]Lipoma NOS [M]Lipoma NOS (morphologic abnormality) [M]Lipoma NOS (morphologic abnormality)[accessedResource: SNOMEDCT:189776008][accessDate: 05-04-2011] [M]Lipoma NOS[accessedResource: SNOMEDCT:189776008][accessDate: 05-04-2011] multiple lipomatosis multiple lipomatosis[accessedResource: DOID:9291][accessDate: 05-04-2011] malignant peripheral nerve sheath tumor An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1). An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1).[accessedResource: NCIt:C3798][accessDate: 05-04-2011] DOID:5940 Epithelioid MPNST Epithelioid MPNST[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] GeneRIF:11642720 GeneRIF:12152785 GeneRIF:12660952 GeneRIF:12730955 GeneRIF:12782393 GeneRIF:12917360 GeneRIF:14519636 GeneRIF:14991838 James Malone MPNST MPNST - Malignant peripheral nerve sheath tumor MPNST - Malignant peripheral nerve sheath tumor[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] MPNST - Malignant peripheral nerve sheath tumour MPNST - Malignant peripheral nerve sheath tumour[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] MPNST with glandular differentiation MPNST with glandular differentiation[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] MPNST with mesenchymal differentiation MPNST with mesenchymal differentiation[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] MPNST[accessedResource: MSH:D018317][accessDate: 05-04-2011] MPNSTs MPNSTs[accessedResource: MSH:D018317][accessDate: 05-04-2011] MSH:D018317 Malignant Neoplasm of Peripheral Nerve Sheath Malignant Neoplasm of Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Neoplasm of the Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Neurilemmoma Malignant Neurilemmoma[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Neurilemoma Malignant Neurilemoma[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Peripheral Nerve Sheath Neoplasm Malignant Peripheral Nerve Sheath Neoplasm[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Peripheral Nerve Sheath Tumors Malignant Peripheral Nerve Sheath Tumors[accessedResource: MSH:D018317][accessDate: 05-04-2011] Malignant Peripheral Nerve Sheath Tumour Malignant Peripheral Nerve Sheath Tumour[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Schwannoma Malignant Schwannoma[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Tumor of Peripheral Nerve Sheath Malignant Tumor of Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant Tumor of the Peripheral Nerve Sheath Malignant Tumor of the Peripheral Nerve Sheath[accessedResource: NCIt:C3798][accessDate: 05-04-2011] Malignant peripheral nerve sheath tumor (disorder)[accessedResource: SNOMEDCT:404037002][accessDate: 05-04-2011] Malignant peripheral nerve sheath tumor (morphologic abnormality) Malignant peripheral nerve sheath tumor (morphologic abnormality)[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Malignant peripheral nerve sheath tumor [dup] (morphologic abnormality) Melanotic MPNST Melanotic MPNST[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Melanotic psammomatous MPNST Melanotic psammomatous MPNST[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] NCIt:C3798 NEOPL NERVE SHEATH NEOPL NERVE SHEATH[accessedResource: MSH:D018317][accessDate: 05-04-2011] NERVE SHEATH NEOPL NERVE SHEATH NEOPL[accessedResource: MSH:D018317][accessDate: 05-04-2011] Neoplasm, Nerve Sheath Neoplasm, Nerve Sheath[accessedResource: MSH:D018317][accessDate: 05-04-2011] Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category. Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category.[accessedResource: MSH:D018317][accessDate: 05-04-2011] Neoplasms, Nerve Sheath Neoplasms, Nerve Sheath[accessedResource: MSH:D018317][accessDate: 05-04-2011] Nerve Sheath Neoplasm Nerve Sheath Neoplasm[accessedResource: MSH:D018317][accessDate: 05-04-2011] Nerve Sheath Neoplasms Nerve Sheath Neoplasms[accessedResource: MSH:D018317][accessDate: 05-04-2011] Nerve Sheath Tumors Nerve Sheath Tumors, Peripheral Nerve Sheath Tumors, Peripheral[accessedResource: MSH:D018317][accessDate: 05-04-2011] Nerve Sheath Tumors[accessedResource: MSH:D018317][accessDate: 05-04-2011] Neurofibrosarcoma Neurofibrosarcoma [obs] Neurofibrosarcoma [obs][accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Neurofibrosarcoma[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Neurogenic sarcoma Neurogenic sarcoma [obs] Neurogenic sarcoma [obs][accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Neurogenic sarcoma[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Neurosarcoma Neurosarcoma [obs] Neurosarcoma [obs][accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Neurosarcoma[accessedResource: SNOMEDCT:19897006][accessDate: 05-04-2011] Perineurioma Perineurioma[accessedResource: MSH:D018317][accessDate: 05-04-2011] Perineuriomas Perineuriomas[accessedResource: MSH:D018317][accessDate: 05-04-2011] Peripheral Nerve Sheath Tumors Peripheral Nerve Sheath Tumors, Malignant Peripheral Nerve Sheath Tumors, Malignant[accessedResource: MSH:D018317][accessDate: 05-04-2011] Peripheral Nerve Sheath Tumors[accessedResource: MSH:D018317][accessDate: 05-04-2011] SNOMEDCT:19897006 SNOMEDCT:404037002 Tumors of the Nerve Sheath Tumors of the Nerve Sheath[accessedResource: MSH:D018317][accessDate: 05-04-2011] malignant neoplasm of the peripheral nerve Sheath malignant peripheral nerve sheath tumor (disorder) malignant peripheral nerve sheath tumor [dup] (morphologic abnormality)[accessedResource: DOID:5940][accessDate: 05-04-2011] normal A normal class is a special type of disease factor used as a control, that is, one which is not known to be affected by any disease; being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm. Being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm. Being approximately average or within certain limits; conforming with or constituting a norm or standard or level or type or social norm.[accessedResource: NCIt:C14165][accessDate: 05-04-2011] Health Health[accessedResource: MSH:D006262][accessDate: 05-04-2011] James Malone MSH:D006262 NCIt:C14165 Normalcy Normalcy[accessedResource: MSH:D006262][accessDate: 05-04-2011] Normalities Normalities[accessedResource: MSH:D006262][accessDate: 05-04-2011] Normality Normality[accessedResource: MSH:D006262][accessDate: 05-04-2011] The state of conforming to a type, standard, or regular pattern. (Merriam-Webster's Collegiate Dictionary, 10th ed) The state of conforming to a type, standard, or regular pattern. (Merriam-Webster's Collegiate Dictionary, 10th ed)[accessedResource: MSH:D006262][accessDate: 05-04-2011] The state of the organism when it functions optimally without evidence of disease. The state of the organism when it functions optimally without evidence of disease.[accessedResource: MSH:D006262][accessDate: 05-04-2011] Tomasz Adamusiak hepatocellular adenoma A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use. A benign epithelial neoplasm arising from the hepatocytes. Grossly, it appears as a soft, round mass which often contains areas of hemorrhage and necrosis. Morphologically, the neoplastic cells resemble normal hepatocytes and form plates separated by sinusoids. Most patients have a history of contraceptive or anabolic steroids use.[accessedResource: NCIt:C3758][accessDate: 05-04-2011] Adenoma of Liver Cells Adenoma of Liver Cells[accessedResource: NCIt:C3758][accessDate: 05-04-2011] Adenoma of the Liver Cells Adenoma of the Liver Cells[accessedResource: NCIt:C3758][accessDate: 05-04-2011] HCA HCA[accessedResource: NCIt:C3758][accessDate: 05-04-2011] James Malone Liver Cell Adenoma Liver Cell Adenoma[accessedResource: NCIt:C3758][accessDate: 05-04-2011] NCIt:C3758 OMIM:114550 Tomasz Adamusiak viral disease A viral disease is a disease factor that is caused primarily by the infection or otherise hosting of a virus. James Malone HIV infection A Lentivirus infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands. A Lentivirus infectious disease that results_in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has_symptom diarrhea, has_symptom fatigue, has_symptom fever, has_symptom vaginal yeast infection, has_symptom headache, has_symptom mouth sores, has_symptom muscle aches, has_symptom sore throat, and has_symptom swollen lymph glands.[accessedResource: DOID:526][accessDate: 05-04-2011] An infection caused by the human immunodeficiency virus. An infection caused by the human immunodeficiency virus.[accessedResource: NCIt:C3108][accessDate: 05-04-2011] DOID:526 GeneRIF:11466339 GeneRIF:11466389 GeneRIF:11709782 GeneRIF:11801693 GeneRIF:11834941 GeneRIF:11861282 GeneRIF:11862398 GeneRIF:11932418 GeneRIF:11937573 GeneRIF:11983108 GeneRIF:12051740 GeneRIF:12100031 GeneRIF:12131187 GeneRIF:12167863 GeneRIF:12192009 GeneRIF:12193696 GeneRIF:12202149 GeneRIF:12220649 GeneRIF:12237292 GeneRIF:12368356 GeneRIF:12427285 GeneRIF:12468426 GeneRIF:12473840 GeneRIF:12482395 GeneRIF:12510154 GeneRIF:12513914 GeneRIF:12514416 GeneRIF:12515722 GeneRIF:12531788 GeneRIF:12552446 GeneRIF:12586555 GeneRIF:12594292 GeneRIF:12610138 GeneRIF:12619446 GeneRIF:12639246 GeneRIF:12639247 GeneRIF:12640191 GeneRIF:12645627 GeneRIF:12679439 GeneRIF:12713059 GeneRIF:12751031 GeneRIF:12757260 GeneRIF:12767990 GeneRIF:12767998 GeneRIF:12769187 GeneRIF:12803993 GeneRIF:12815099 GeneRIF:12829794 GeneRIF:12834106 GeneRIF:12847229 GeneRIF:12884293 GeneRIF:12900520 GeneRIF:12960279 GeneRIF:12964117 GeneRIF:14501803 GeneRIF:14501804 GeneRIF:14502291 GeneRIF:14554087 GeneRIF:14645006 GeneRIF:14687494 GeneRIF:14688346 GeneRIF:14764743 GeneRIF:14978126 GeneRIF:14983032 GeneRIF:14984591 GeneRIF:14985764 GeneRIF:15018667 GeneRIF:15057492 GeneRIF:15117454 GeneRIF:15128805 GeneRIF:15156567 GeneRIF:15175077 GeneRIF:15181567 GeneRIF:15192272 GeneRIF:15242539 GeneRIF:15265023 GeneRIF:15272203 GeneRIF:15297876 GeneRIF:15319853 GeneRIF:15326605 GeneRIF:15452260 GeneRIF:15466648 GeneRIF:15535131 GeneRIF:15541354 GeneRIF:15555533 GeneRIF:15556689 GeneRIF:15564514 GeneRIF:15585099 GeneRIF:15596839 GeneRIF:15660419 GeneRIF:15661918 GeneRIF:15702055 GeneRIF:15708596 GeneRIF:15735450 GeneRIF:15737629 GeneRIF:15741250 GeneRIF:15751767 GeneRIF:15821887 GeneRIF:15829920 GeneRIF:15864119 GeneRIF:15869407 GeneRIF:15879099 GeneRIF:15985194 GeneRIF:16015368 GeneRIF:16081817 GeneRIF:16136472 GeneRIF:16156786 GeneRIF:16284526 HIV - Human immunodeficiency virus infection HIV - Human immunodeficiency virus infection[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011] HIV INFECT HIV INFECT[accessedResource: MSH:D015658][accessDate: 05-04-2011] HIV Infection HIV Infections HIV Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011] HIV infection[accessedResource: DOID:526][accessDate: 05-04-2011] HIV infectious disease HTLV III INFECT HTLV III INFECT[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV III Infections HTLV III Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV III LAV INFECT HTLV III LAV INFECT[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV III LAV Infections HTLV III LAV Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV WIII INFECTIONS HTLV WIII INFECTIONS[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV WIII LAV INFECTIONS HTLV WIII LAV INFECTIONS[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV-III Infection HTLV-III Infection[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV-III Infections HTLV-III Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV-III-LAV Infection HTLV-III-LAV Infection[accessedResource: MSH:D015658][accessDate: 05-04-2011] HTLV-III-LAV Infections HTLV-III-LAV Infections[accessedResource: MSH:D015658][accessDate: 05-04-2011] HUMAN IMMUNO VIRUS DIS HUMAN IMMUNO VIRUS DIS[accessedResource: ICD9:042][accessDate: 05-04-2011] HUMAN IMMUNODEFICIENCY VIRUS [HIV] INFECTION[accessedResource: ICD9:042-042.99][accessDate: 05-04-2011] HUMAN IMMUNOdeficiency VIRUS [HIV] INFECTION Human immunodeficiency virus [HIV] disease Human immunodeficiency virus [HIV] disease[accessedResource: ICD9:042][accessDate: 05-04-2011] Human immunodeficiency virus disease Human immunodeficiency virus disease (disorder) Human immunodeficiency virus infection Human immunodeficiency virus infection (disorder) Human immunodeficiency virus infection (disorder)[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011] Human immunodeficiency virus infection, NOS Human immunodeficiency virus infection, NOS[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011] Human immunodeficiency virus infection[accessedResource: SNOMEDCT:86406008][accessDate: 05-04-2011] Human immunodeficiency virus infectious disease Human immunodeficiency virus infectious disease[accessedResource: DOID:526][accessDate: 05-04-2011] ICD9:042 ICD9:042-042.99 Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS). Includes the spectrum of human immunodeficiency virus infections that range from asymptomatic seropositivity, thru AIDS-related complex (ARC), to acquired immunodeficiency syndrome (AIDS).[accessedResource: MSH:D015658][accessDate: 05-04-2011] Infection, HIV Infection, HIV[accessedResource: MSH:D015658][accessDate: 05-04-2011] Infection, HTLV-III Infection, HTLV-III-LAV Infection, HTLV-III-LAV[accessedResource: MSH:D015658][accessDate: 05-04-2011] Infection, HTLV-III[accessedResource: MSH:D015658][accessDate: 05-04-2011] Infections, HIV Infections, HIV[accessedResource: MSH:D015658][accessDate: 05-04-2011] Infections, HTLV-III Infections, HTLV-III-LAV Infections, HTLV-III-LAV[accessedResource: MSH:D015658][accessDate: 05-04-2011] Infections, HTLV-III[accessedResource: MSH:D015658][accessDate: 05-04-2011] James Malone LYMPHOTROPIC VIRUS TYPE III INFECTIONS HUMAN T LYMPHOTROPIC VIRUS TYPE III INFECTIONS HUMAN T[accessedResource: MSH:D015658][accessDate: 05-04-2011] MSH:D015658 NCIt:C3108 OMIM:604201 SNOMEDCT:187438009 SNOMEDCT:187453001 SNOMEDCT:86406008 T LYMPHOTROPIC VIRUS TYPE III INFECT HUMAN T LYMPHOTROPIC VIRUS TYPE III INFECT HUMAN[accessedResource: MSH:D015658][accessDate: 05-04-2011] T Lymphotropic Virus Type III Infections, Human T Lymphotropic Virus Type III Infections, Human[accessedResource: MSH:D015658][accessDate: 05-04-2011] T-Lymphotropic Virus Type III Infections, Human T-Lymphotropic Virus Type III Infections, Human[accessedResource: MSH:D015658][accessDate: 05-04-2011] Tomasz Adamusiak Unspecified human immunodeficiency virus [HIV] disease (disorder) [X]Human immunodeficiency virus disease [X]Human immunodeficiency virus disease (disorder) [X]Human immunodeficiency virus disease (disorder)[accessedResource: SNOMEDCT:187438009][accessDate: 05-04-2011] [X]Human immunodeficiency virus disease[accessedResource: SNOMEDCT:187438009][accessDate: 05-04-2011] [X]Unspecified human immunodeficiency virus [HIV] disease [X]Unspecified human immunodeficiency virus [HIV] disease (disorder) [X]Unspecified human immunodeficiency virus [HIV] disease (disorder)[accessedResource: SNOMEDCT:187453001][accessDate: 05-04-2011] [X]Unspecified human immunodeficiency virus [HIV] disease[accessedResource: SNOMEDCT:187453001][accessDate: 05-04-2011] human immunodeficiency virus true AIDS A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.[accessedResource: DOID:635][accessDate: 05-04-2011] A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004 A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin&amp;apos;s lymphoma and Kaposi&amp;apos;s sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.[accessedResource: NCIt:C2851][accessDate: 05-04-2011] ACQUIRED IMMUNE DEFIC SYNDROME ACQUIRED IMMUNE DEFIC SYNDROME[accessedResource: MSH:D000163][accessDate: 05-04-2011] ACQUIRED IMMUNO DEFIC SYNDROME ACQUIRED IMMUNO DEFIC SYNDROME[accessedResource: MSH:D000163][accessDate: 05-04-2011] ACQUIRED IMMUNODEFIC SYNDROME ACQUIRED IMMUNODEFIC SYNDROME[accessedResource: MSH:D000163][accessDate: 05-04-2011] ACQUIRED IMMUNODEFICIENCY SYNDROME, AIDS ACQUIRED IMMUNODEFICIENCY SYNDROME, AIDS[accessedResource: NCIt:C2851][accessDate: 05-04-2011] AIDS (disorder) AIDS (disorder)[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] AIDS - Acquired immunodeficiency syndrome AIDS - Acquired immunodeficiency syndrome[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME AIDS, ACQUIRED IMMUNODEFICIENCY SYNDROME[accessedResource: NCIt:C2851][accessDate: 05-04-2011] AIDS, NOS AIDS, NOS[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] Acquired Immune Deficiency[accessedResource: NCIt:C2851][accessDate: 05-04-2011] Acquired Immuno Deficiency Syndrome Acquired Immuno Deficiency Syndrome[accessedResource: MSH:D000163][accessDate: 05-04-2011] Acquired Immuno-Deficiency Syndrome Acquired Immuno-Deficiency Syndrome[accessedResource: MSH:D000163][accessDate: 05-04-2011] Acquired Immuno-Deficiency Syndromes Acquired Immuno-Deficiency Syndromes[accessedResource: MSH:D000163][accessDate: 05-04-2011] Acquired Immunodeficiency Syndromes Acquired Immunodeficiency Syndromes[accessedResource: MSH:D000163][accessDate: 05-04-2011] Acquired human immunodeficiency virus infection syndrome NOS Acquired human immunodeficiency virus infection syndrome NOS (disorder)[accessedResource: SNOMEDCT:186715004][accessDate: 05-04-2011] Acquired human immunodeficiency virus infection syndrome NOS[accessedResource: SNOMEDCT:186715004][accessDate: 05-04-2011] Acquired immune defic. syndr. Acquired immune deficiency syndrome (AIDS) Acquired immune deficiency syndrome (AIDS) (disorder) Acquired immune deficiency syndrome (AIDS) (disorder)[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] Acquired immune deficiency syndrome (AIDS)[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] Acquired immune deficiency syndrome, NOS Acquired immune deficiency syndrome, NOS[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] Acquired immune deficiency syndrome[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] Acquired immunodeficiency syndrome Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse. Acquired immunodeficiency syndrome, NOS Acquired immunodeficiency syndrome, NOS[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] Acquired immunodeficiency syndrome[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse. An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993. An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.[accessedResource: MSH:D000163][accessDate: 05-04-2011] DOID:635 GeneRIF:11121048 GeneRIF:11744690 GeneRIF:11950939 GeneRIF:12114533 GeneRIF:12134147 GeneRIF:12372282 GeneRIF:12427286 GeneRIF:12468426 GeneRIF:12501250 GeneRIF:12634405 GeneRIF:12749011 GeneRIF:12750160 GeneRIF:12761559 GeneRIF:12854077 GeneRIF:12944981 GeneRIF:12964118 GeneRIF:14506268 GeneRIF:14523088 GeneRIF:14555765 GeneRIF:14557639 GeneRIF:14699011 GeneRIF:14990729 GeneRIF:15042330 GeneRIF:15327898 GeneRIF:15377788 GeneRIF:15637236 GeneRIF:15793370 GeneRIF:15809899 GeneRIF:15814716 GeneRIF:15865925 GeneRIF:16014568 IMMUNODEFIC SYNDROME ACQUIRED IMMUNODEFIC SYNDROME ACQUIRED[accessedResource: MSH:D000163][accessDate: 05-04-2011] IMMUNOL DEFIC SYNDROME ACQUIRED IMMUNOL DEFIC SYNDROME ACQUIRED[accessedResource: MSH:D000163][accessDate: 05-04-2011] Immuno-Deficiency Syndrome, Acquired Immuno-Deficiency Syndrome, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011] Immuno-Deficiency Syndromes, Acquired Immuno-Deficiency Syndromes, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011] Immunodeficiency Syndrome, Acquired Immunodeficiency Syndrome, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011] Immunodeficiency Syndromes, Acquired Immunodeficiency Syndromes, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011] Immunodeficiency due to human immunodeficiency virus infection Immunodeficiency due to human immunodeficiency virus infection[accessedResource: SNOMEDCT:62479008][accessDate: 05-04-2011] Immunologic Deficiency Syndrome, Acquired Immunologic Deficiency Syndrome, Acquired[accessedResource: MSH:D000163][accessDate: 05-04-2011] James Malone MSH:D000163 NCIt:C2851 SNOMEDCT:186715004 SNOMEDCT:62479008 Syndrome, Acquired Immuno-Deficiency Syndrome, Acquired Immuno-Deficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011] Syndrome, Acquired Immunodeficiency Syndrome, Acquired Immunodeficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011] Syndromes, Acquired Immuno-Deficiency Syndromes, Acquired Immuno-Deficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011] Syndromes, Acquired Immunodeficiency Syndromes, Acquired Immunodeficiency[accessedResource: MSH:D000163][accessDate: 05-04-2011] acquired Immune deficiency acquired human immunodeficiency virus infection syndrome NOS (disorder) acquired immune deficiency syndrome acquired immunedeficiency syndrome true obsolete_hereditary leiomyomatosis and renal cell cancer HLRCC HLRCC[accessedResource: NCIt:C51302][accessDate: 05-04-2011] Hereditary Leiomyomatosis and Renal Cell Carcinoma Hereditary Leiomyomatosis and Renal Cell Carcinoma[accessedResource: NCIt:C51302][accessDate: 05-04-2011] James Malone NCIt:C51302 OMIM:605839 Tomasz Adamusiak hereditary leiomyomatosis and renal cell cancer syndrome hereditary leiomyomatosis and renal cell cancer syndrome[accessedResource: NCIt:C51302][accessDate: 05-04-2011] true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_8649' instead. New Label : Familial leiomyomatosis idiopathic cardiomyopathy A disease of the heart muscle or myocardium proper whose cause is unknown. A disease of the heart muscle or myocardium proper whose cause is unknown.[accessedResource: NCIt:C53654][accessDate: 05-04-2011] James Malone NCIt:C53654 idiopathic pulmonary fibrosis Chronic and progressive fibrosis of the lung parenchyma of unknown cause. Chronic and progressive fibrosis of the lung parenchyma of unknown cause.[accessedResource: NCIt:C35716][accessDate: 05-04-2011] IPF IPF[accessedResource: NCIt:C35716][accessDate: 05-04-2011] James Malone MSH:D054990 NCIt:C35716 OMIM:178500 Tomasz Adamusiak cryptogenic fibrosing alveolitis true Epstein-Barr virus infection A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva. A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.[accessedResource: DOID:2938][accessDate: 05-04-2011] DOID:2938 EBV INFECT EBV INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011] EBV Infection EBV Infection[accessedResource: MSH:D020031][accessDate: 05-04-2011] EBV Infections EBV Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011] EPSTEIN BARR VIRUS INFECT EPSTEIN BARR VIRUS INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011] Epstein Barr Virus Infections Epstein Barr Virus Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011] Epstein-Barr Virus Infections Epstein-Barr Virus Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011] Epstein-Barr virus infection (disorder) Epstein-Barr virus infection (disorder)[accessedResource: SNOMEDCT:402121009][accessDate: 05-04-2011] Epstein-Barr virus infectious disease Epstein-Barr virus infectious disease[accessedResource: DOID:2938][accessDate: 05-04-2011] GeneRIF:11813981 GeneRIF:11979459 GeneRIF:12050395 GeneRIF:12163590 GeneRIF:12707047 GeneRIF:14607922 GeneRIF:14747531 GeneRIF:14747532 GeneRIF:15047814 GeneRIF:15170639 GeneRIF:15324931 GeneRIF:15356108 GeneRIF:15368517 GeneRIF:15650182 GeneRIF:15808506 GeneRIF:15929169 HERPESVIRUS 4 INFECT HUMAN HERPESVIRUS 4 INFECT HUMAN[accessedResource: MSH:D020031][accessDate: 05-04-2011] HUMAN HERPES VIRUS 4 INFECT HUMAN HERPES VIRUS 4 INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011] HUMAN HERPESVIRUS 4 INFECT HUMAN HERPESVIRUS 4 INFECT[accessedResource: MSH:D020031][accessDate: 05-04-2011] Herpesvirus 4 Infections, Human Herpesvirus 4 Infections, Human[accessedResource: MSH:D020031][accessDate: 05-04-2011] Human Herpes Virus 4 Infections Human Herpes Virus 4 Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011] Human Herpesvirus 4 Infections Human Herpesvirus 4 Infections[accessedResource: MSH:D020031][accessDate: 05-04-2011] INFECT EBV INFECT EBV[accessedResource: MSH:D020031][accessDate: 05-04-2011] INFECT EPSTEIN BARR VIRUS INFECT EPSTEIN BARR VIRUS[accessedResource: MSH:D020031][accessDate: 05-04-2011] Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY). Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).[accessedResource: MSH:D020031][accessDate: 05-04-2011] Infections, EBV Infections, EBV[accessedResource: MSH:D020031][accessDate: 05-04-2011] Infections, Epstein-Barr Virus Infections, Epstein-Barr Virus[accessedResource: MSH:D020031][accessDate: 05-04-2011] James Malone MSH:D020031 NCIt:C38759 SNOMEDCT:402121009 Tumor Virus Infections Virus Infections, Epstein-Barr Virus Infections, Epstein-Barr[accessedResource: MSH:D020031][accessDate: 05-04-2011] malignant pleural mesothelioma DOID:7474 GeneRIF:14719068 GeneRIF:15014036 GeneRIF:15829320 James Malone Malignant Mesothelioma of Pleura[accessedResource: NCIt:C7376][accessDate: 05-04-2011] Malignant Mesothelioma of the Pleura Malignant Mesothelioma of the Pleura[accessedResource: NCIt:C7376][accessDate: 05-04-2011] Malignant mesothelioma of pleura (disorder)[accessedResource: SNOMEDCT:254645002][accessDate: 05-04-2011] Mesothelioma (malignant) of pleura (disorder) Mesothelioma (malignant) of pleura (disorder)[accessedResource: DOID:7474][accessDate: 05-04-2011] NCIt:C7376 Pleural Malignant Mesothelioma Pleural Malignant Mesothelioma[accessedResource: NCIt:C7376][accessDate: 05-04-2011] SNOMEDCT:254645002 malignant mesothelioma of pleura malignant mesothelioma of pleura (disorder) bacterial disease A bacterial disease is a disease factor that is caused primarily by bacteria. James Malone pneumococcal infection DOID:9805 GeneRIF:12569171 INFECT PNEUMOCOCCAL INFECT PNEUMOCOCCAL[accessedResource: MSH:D011008][accessDate: 05-04-2011] INFECT STREP PNEUMONIAE INFECT STREP PNEUMONIAE[accessedResource: MSH:D011008][accessDate: 05-04-2011] Infection, Pneumococcal Infection, Pneumococcal[accessedResource: MSH:D011008][accessDate: 05-04-2011] Infection, Streptococcus pneumoniae Infection, Streptococcus pneumoniae[accessedResource: MSH:D011008][accessDate: 05-04-2011] Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE. Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.[accessedResource: MSH:D011008][accessDate: 05-04-2011] Infections, Pneumococcal Infections, Pneumococcal[accessedResource: MSH:D011008][accessDate: 05-04-2011] Infections, Streptococcus pneumoniae Infections, Streptococcus pneumoniae[accessedResource: MSH:D011008][accessDate: 05-04-2011] James Malone MSH:D011008 PNEUMOCOCCAL INFECT PNEUMOCOCCAL INFECT[accessedResource: MSH:D011008][accessDate: 05-04-2011] Pneumococcal Infections Pneumococcal Infections[accessedResource: MSH:D011008][accessDate: 05-04-2011] Pneumococcal infection, NOS Pneumococcal infection, NOS[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011] Pneumococcal infectious disease (disorder) Pneumococcal infectious disease (disorder)[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011] Pneumococcal infectious disease, NOS Pneumococcal infectious disease, NOS[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011] Pneumococcal infectious disease[accessedResource: SNOMEDCT:16814004][accessDate: 05-04-2011] SNOMEDCT:16814004 STREP PNEUMONIAE INFECT STREP PNEUMONIAE INFECT[accessedResource: MSH:D011008][accessDate: 05-04-2011] Streptococcus pneumoniae Infection Streptococcus pneumoniae Infection[accessedResource: MSH:D011008][accessDate: 05-04-2011] Streptococcus pneumoniae Infections Streptococcus pneumoniae Infections[accessedResource: MSH:D011008][accessDate: 05-04-2011] pneumococcal infectious disease pneumoniae Infection, Streptococcus pneumoniae Infection, Streptococcus[accessedResource: MSH:D011008][accessDate: 05-04-2011] pneumoniae Infections, Streptococcus pneumoniae Infections, Streptococcus[accessedResource: MSH:D011008][accessDate: 05-04-2011] temporal lobe epilepsy A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH). A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion) (MeSH).[accessedResource: NIFSTD:birnlex_12733][accessDate: 05-04-2011] A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321) A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)[accessedResource: MSH:D004833][accessDate: 05-04-2011] Benign Psychomotor Epilepsy, Childhood Benign Psychomotor Epilepsy, Childhood[accessedResource: MSH:D004833][accessDate: 05-04-2011] Childhood Benign Psychomotor Epilepsy Childhood Benign Psychomotor Epilepsy[accessedResource: MSH:D004833][accessDate: 05-04-2011] DOID:3328 Epilepsies, Lateral Temporal Epilepsies, Lateral Temporal[accessedResource: MSH:D004833][accessDate: 05-04-2011] Epilepsies, Temporal Lobe Epilepsies, Temporal Lobe[accessedResource: MSH:D004833][accessDate: 05-04-2011] Epilepsies, Uncinate Epilepsies, Uncinate[accessedResource: MSH:D004833][accessDate: 05-04-2011] Epilepsy, Benign Psychomotor, Childhood Epilepsy, Benign Psychomotor, Childhood[accessedResource: MSH:D004833][accessDate: 05-04-2011] Epilepsy, Lateral Temporal Epilepsy, Lateral Temporal[accessedResource: MSH:D004833][accessDate: 05-04-2011] Epilepsy, Uncinate Epilepsy, Uncinate[accessedResource: MSH:D004833][accessDate: 05-04-2011] GeneRIF:11951051 GeneRIF:12115687 GeneRIF:12122039 GeneRIF:12205652 GeneRIF:12470703 GeneRIF:12601092 GeneRIF:12686399 GeneRIF:14503638 GeneRIF:14510824 GeneRIF:14625043 GeneRIF:14643764 GeneRIF:15048887 GeneRIF:15079010 GeneRIF:15111672 GeneRIF:15145077 GeneRIF:15193619 GeneRIF:15245492 GeneRIF:15246112 GeneRIF:15452305 GeneRIF:15592755 GeneRIF:15672539 GeneRIF:15716416 GeneRIF:15799783 GeneRIF:16095760 GeneRIF:16254490 James Malone Lateral Temporal Epilepsies Lateral Temporal Epilepsies[accessedResource: MSH:D004833][accessDate: 05-04-2011] Lateral Temporal Epilepsy Lateral Temporal Epilepsy[accessedResource: NIFSTD:birnlex_12733][accessDate: 05-04-2011] MSH:D004833 NIFSTD:birnlex_12733 Psychomotor seizure Psychomotor seizure[accessedResource: SNOMEDCT:193000002][accessDate: 05-04-2011] SNOMEDCT:193000002 TLE - Temporal lobe epilepsy TLE - Temporal lobe epilepsy[accessedResource: SNOMEDCT:193000002][accessDate: 05-04-2011] Temporal Lobe Epilepsies Temporal Lobe Epilepsies[accessedResource: MSH:D004833][accessDate: 05-04-2011] Temporal lobe epilepsy (disorder) Temporal lobe epilepsy (disorder) [Ambiguous] Temporal lobe epilepsy (disorder) [Ambiguous][accessedResource: DOID:3328][accessDate: 05-04-2011] Temporal lobe epilepsy (disorder)[accessedResource: DOID:3328][accessDate: 05-04-2011] Tomasz Adamusiak Uncinate Epilepsies Uncinate Epilepsies[accessedResource: MSH:D004833][accessDate: 05-04-2011] Uncinate Epilepsy Uncinate Epilepsy[accessedResource: MSH:D004833][accessDate: 05-04-2011] epilepsy, temporal lobe epilepsy, temporal lobe[accessedResource: DOID:3328][accessDate: 05-04-2011] obsolete_tuberculosis A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. --2004 A chronic, recurrent infection caused by the bacterium Mycobacterium tuberculosis. Tuberculosis (TB) may affect almost any tissue or organ of the body with the lungs being the most common site of infection. The clinical stages of TB are primary or initial infection, latent or dormant infection, and recrudescent or adult-type TB. Ninety to 95% of primary TB infections may go unrecognized. Histopathologically, tissue lesions consist of granulomas which usually undergo central caseation necrosis. Local symptoms of TB vary according to the part affected; acute symptoms include hectic fever, sweats, and emaciation; serious complications include granulomatous erosion of pulmonary bronchi associated with hemoptysis. If untreated, progressive TB may be associated with a high degree of mortality. This infection is frequently observed in immunocompromised individuals with AIDS or a history of illicit IV drug use. --2004[accessedResource: NCIt:C3423][accessDate: 05-04-2011] Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM. Any of the infectious diseases of man and other animals caused by species of MYCOBACTERIUM.[accessedResource: MSH:D014376][accessDate: 05-04-2011] DOID:399 Disease, Koch's Disease, Koch's[accessedResource: MSH:D014376][accessDate: 05-04-2011] Disease, Kochs Disease, Kochs[accessedResource: MSH:D014376][accessDate: 05-04-2011] GeneRIF:11791667 GeneRIF:11801672 GeneRIF:11907104 GeneRIF:12068984 GeneRIF:12075004 GeneRIF:12077261 GeneRIF:12117995 GeneRIF:12195379 GeneRIF:12218133 GeneRIF:12234259 GeneRIF:12244136 GeneRIF:12296850 GeneRIF:12368450 GeneRIF:12391840 GeneRIF:12391841 GeneRIF:12496428 GeneRIF:12516771 GeneRIF:12531774 GeneRIF:12596048 GeneRIF:12646604 GeneRIF:12714269 GeneRIF:12751024 GeneRIF:12753505 GeneRIF:12825894 GeneRIF:12934195 GeneRIF:12942785 GeneRIF:12960337 GeneRIF:14500465 GeneRIF:14551880 GeneRIF:14568951 GeneRIF:14979495 GeneRIF:15039368 GeneRIF:15050961 GeneRIF:15061663 GeneRIF:15138193 GeneRIF:15187146 GeneRIF:15295696 GeneRIF:15322009 GeneRIF:15385470 GeneRIF:15478069 GeneRIF:15498158 GeneRIF:15500449 GeneRIF:15599404 GeneRIF:15649891 GeneRIF:15680239 GeneRIF:15686559 GeneRIF:15695641 GeneRIF:15774900 GeneRIF:15804490 GeneRIF:15860225 GeneRIF:15863395 GeneRIF:15866927 GeneRIF:15879133 GeneRIF:15879136 GeneRIF:15882420 GeneRIF:15993364 GeneRIF:16002675 GeneRIF:16077122 GeneRIF:16103355 GeneRIF:16136464 GeneRIF:16177361 GeneRIF:16224188 GeneRIF:16267303 ICD9:010-018.99 ICD9:017 ICD9:017.9 ICD9:017.90 ICD9:017.91 ICD9:017.92 ICD9:017.93 ICD9:017.94 ICD9:017.95 ICD9:017.96 Infection due to Mycobacterium tuberculosis Infection due to Mycobacterium tuberculosis (disorder) Infection due to Mycobacterium tuberculosis (disorder)[accessedResource: SNOMEDCT:373576009][accessDate: 05-04-2011] Infection due to Mycobacterium tuberculosis[accessedResource: SNOMEDCT:373576009][accessDate: 05-04-2011] James Malone Koch Disease Koch Disease[accessedResource: MSH:D014376][accessDate: 05-04-2011] Koch's Disease Koch's Disease[accessedResource: MSH:D014376][accessDate: 05-04-2011] Kochs Disease Kochs Disease[accessedResource: MSH:D014376][accessDate: 05-04-2011] MSH:D014376 MTB - Mycobacterium tuberculosis infection MTB - Mycobacterium tuberculosis infection[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011] Mycobacterium tuberculosis infection Mycobacterium tuberculosis infection[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011] NCIt:C3423 SNOMEDCT:186247008 SNOMEDCT:186271001 SNOMEDCT:186274009 SNOMEDCT:186275005 SNOMEDCT:186282009 SNOMEDCT:187292005 SNOMEDCT:371569005 SNOMEDCT:373576009 SNOMEDCT:56717001 TB TB - Tuberculosis TB - Tuberculosis[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011] TB OF ORGAN NEC-CULT DX TB OF ORGAN NEC-CULT DX[accessedResource: ICD9:017.94][accessDate: 05-04-2011] TB OF ORGAN NEC-HISTO DX TB OF ORGAN NEC-HISTO DX[accessedResource: ICD9:017.95][accessDate: 05-04-2011] TB OF ORGAN NEC-MICRO DX TB OF ORGAN NEC-MICRO DX[accessedResource: ICD9:017.93][accessDate: 05-04-2011] TB OF ORGAN NEC-NO EXAM TB OF ORGAN NEC-NO EXAM[accessedResource: ICD9:017.91][accessDate: 05-04-2011] TB OF ORGAN NEC-OTH TEST TB OF ORGAN NEC-OTH TEST[accessedResource: ICD9:017.96][accessDate: 05-04-2011] TB OF ORGAN NEC-UNSPEC TB OF ORGAN NEC-UNSPEC[accessedResource: ICD9:017.90][accessDate: 05-04-2011] TB ORGAN NEC-EXAM UNKN TB ORGAN NEC-EXAM UNKN[accessedResource: ICD9:017.92][accessDate: 05-04-2011] TB[accessedResource: NCIt:C3423][accessDate: 05-04-2011] Tomasz Adamusiak Tuberculoma (finding) Tuberculoma (finding)[accessedResource: DOID:399][accessDate: 05-04-2011] Tuberculoses Tuberculoses[accessedResource: MSH:D014376][accessDate: 05-04-2011] Tuberculosis (disorder) Tuberculosis (disorder)[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011] Tuberculosis NOS Tuberculosis NOS (disorder) Tuberculosis NOS (disorder)[accessedResource: SNOMEDCT:186282009][accessDate: 05-04-2011] Tuberculosis NOS[accessedResource: SNOMEDCT:186282009][accessDate: 05-04-2011] Tuberculosis of mother, with delivery Tuberculosis of other organs Tuberculosis of other organs (disorder) Tuberculosis of other organs (disorder)[accessedResource: SNOMEDCT:186247008][accessDate: 05-04-2011] Tuberculosis of other organs NOS Tuberculosis of other organs NOS (disorder) Tuberculosis of other organs NOS (disorder)[accessedResource: SNOMEDCT:186275005][accessDate: 05-04-2011] Tuberculosis of other organs NOS[accessedResource: SNOMEDCT:186275005][accessDate: 05-04-2011] Tuberculosis of other organs[accessedResource: SNOMEDCT:186247008][accessDate: 05-04-2011] Tuberculosis of other specified organs Tuberculosis of other specified organs (disorder) Tuberculosis of other specified organs (disorder)[accessedResource: SNOMEDCT:186271001][accessDate: 05-04-2011] Tuberculosis of other specified organs NOS Tuberculosis of other specified organs NOS (disorder) Tuberculosis of other specified organs NOS (disorder)[accessedResource: SNOMEDCT:186274009][accessDate: 05-04-2011] Tuberculosis of other specified organs NOS[accessedResource: SNOMEDCT:186274009][accessDate: 05-04-2011] Tuberculosis of other specified organs, bacteriological or histological examination not done Tuberculosis of other specified organs, bacteriological or histological examination not done[accessedResource: ICD9:017.91][accessDate: 05-04-2011] Tuberculosis of other specified organs, bacteriological or histological examination unknown (at present) Tuberculosis of other specified organs, bacteriological or histological examination unknown (at present)[accessedResource: ICD9:017.92][accessDate: 05-04-2011] Tuberculosis of other specified organs, tubercle bacilli found (in sputum) by microscopy Tuberculosis of other specified organs, tubercle bacilli found (in sputum) by microscopy[accessedResource: ICD9:017.93][accessDate: 05-04-2011] Tuberculosis of other specified organs, tubercle bacilli not found (in sputum) by microscopy, but found by bacterial culture Tuberculosis of other specified organs, tubercle bacilli not found (in sputum) by microscopy, but found by bacterial culture[accessedResource: ICD9:017.94][accessDate: 05-04-2011] Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological examination, but tuberculosis confirmed histologically Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological examination, but tuberculosis confirmed histologically[accessedResource: ICD9:017.95][accessDate: 05-04-2011] Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological or histological examination, but tuberculosis confirmed by other methods [inoculation of animals] Tuberculosis of other specified organs, tubercle bacilli not found by bacteriological or histological examination, but tuberculosis confirmed by other methods [inoculation of animals][accessedResource: ICD9:017.96][accessDate: 05-04-2011] Tuberculosis of other specified organs, unspecified examination Tuberculosis of other specified organs, unspecified examination[accessedResource: ICD9:017.90][accessDate: 05-04-2011] Tuberculosis of other specified organs[accessedResource: ICD9:017.9][accessDate: 05-04-2011] Tuberculosis pregnancy Tuberculosis, NOS Tuberculosis, NOS[accessedResource: SNOMEDCT:56717001][accessDate: 05-04-2011] Tuberculosis, antepartum Tuberculosis, postpartum Tuberculous Tuberculous (qualifier value) Tuberculous (qualifier value)[accessedResource: SNOMEDCT:371569005][accessDate: 05-04-2011] Tuberculous[accessedResource: SNOMEDCT:371569005][accessDate: 05-04-2011] [X]Tuberculosis of other specified organs [X]Tuberculosis of other specified organs (disorder) [X]Tuberculosis of other specified organs (disorder)[accessedResource: SNOMEDCT:187292005][accessDate: 05-04-2011] [X]Tuberculosis of other specified organs[accessedResource: SNOMEDCT:187292005][accessDate: 05-04-2011] true tuberculoma tuberculoma[accessedResource: DOID:399][accessDate: 05-04-2011] tuberculous abscess tuberculous abscess[accessedResource: DOID:399][accessDate: 05-04-2011] 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_863' instead. New Label : Tuberculosis Whipple's disease A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS. A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS.[accessedResource: MSH:D008061][accessDate: 05-04-2011] DOID:8476 Disease, Whipple Disease, Whipple's Disease, Whipple's[accessedResource: MSH:D008061][accessDate: 05-04-2011] Disease, Whipple[accessedResource: MSH:D008061][accessDate: 05-04-2011] ICD9:040.2 Intestinal Lipodystrophy[accessedResource: MSH:D008061][accessDate: 05-04-2011] Intestinal Whipple's disease Intestinal Whipple's disease[accessedResource: SNOMEDCT:41545003][accessDate: 05-04-2011] Intestinal lipodystrophy James Malone Lipodystrophy, Intestinal Lipodystrophy, Intestinal[accessedResource: MSH:D008061][accessDate: 05-04-2011] MSH:D008061 SNOMEDCT:41545003 WD - Whipple's disease WD - Whipple's disease[accessedResource: SNOMEDCT:41545003][accessDate: 05-04-2011] WHIPPLE DIS WHIPPLE DIS[accessedResource: MSH:D008061][accessDate: 05-04-2011] WHIPPLES DIS WHIPPLES DIS[accessedResource: MSH:D008061][accessDate: 05-04-2011] Whipple Disease Whipple disease[accessedResource: DOID:8476][accessDate: 05-04-2011] Whipple's disease (disorder) Whipple's disease (disorder)[accessedResource: DOID:8476][accessDate: 05-04-2011] Whipples Disease Whipples Disease[accessedResource: MSH:D008061][accessDate: 05-04-2011] Aeromonas hydrophila infection Aeromonas hydrophila infection is a bacterial disease caused by infection from the Aeromonas hydrophila bacteria. James Malone NCI Metathesaurus: C0085491 human granulocytic anaplasmosis Human granulocytic ehrlichiosis James Malone MedlinePlus: 001381 NCI Metathesaurus: C0483368 anthrax infection A Bacillaceae infectious disease that results_in infection located_in skin, located_in lung or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. A primary Bacillaceae infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_agent Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath.[accessedResource: DOID:7427][accessDate: 05-04-2011] ANTHRAX NOS[accessedResource: ICD9:022.9][accessDate: 05-04-2011] Anthrax (disorder) Anthrax (disorder)[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011] Anthrax NOS Anthrax NOS (disorder) Anthrax NOS (disorder)[accessedResource: SNOMEDCT:186304006][accessDate: 05-04-2011] Anthrax, unspecified Anthrax, unspecified[accessedResource: ICD9:022.9][accessDate: 05-04-2011] Charbon Charbon[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011] DOID:7427 GeneRIF:15569923 GeneRIF:15689409 GeneRIF:16194238 GeneRIF:16239556 ICD9:022 ICD9:022.8 ICD9:022.9 Infection due to Bacillus anthracis Infection due to Bacillus anthracis[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011] James Malone Milzbrand Milzbrand[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011] OTHER ANTHRAX MANIFEST OTHER ANTHRAX MANIFEST[accessedResource: ICD9:022.8][accessDate: 05-04-2011] Other specified anthrax manifestations Other specified anthrax manifestations (disorder) Other specified anthrax manifestations (disorder)[accessedResource: SNOMEDCT:186303000][accessDate: 05-04-2011] Other specified anthrax manifestations[accessedResource: SNOMEDCT:186303000][accessDate: 05-04-2011] Other specified manifestations of anthrax Other specified manifestations of anthrax[accessedResource: ICD9:022.8][accessDate: 05-04-2011] SNOMEDCT:186303000 SNOMEDCT:186304006 SNOMEDCT:187302001 SNOMEDCT:409498004 Splenic fever Splenic fever[accessedResource: SNOMEDCT:409498004][accessDate: 05-04-2011] [X]Anthrax, unspecified [X]Anthrax, unspecified (disorder) [X]Anthrax, unspecified (disorder)[accessedResource: SNOMEDCT:187302001][accessDate: 05-04-2011] [X]Anthrax, unspecified[accessedResource: SNOMEDCT:187302001][accessDate: 05-04-2011] anthrax disease anthrax disease[accessedResource: DOID:7427][accessDate: 05-04-2011] Drosophila C virus infection James Malone NCI Metathesaurus: C0318594 Enterococcus faecalis infection James Malone NCI Metathesaurus: C0038404 Pectobacterium carotovorum infection Erwinia carotovora infection James Malone NCI Metathesaurus: C0085485 Hibiscus chlorotic ringspot virus infection James Malone NCI Metathesaurus: C1017212 myositis An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders. An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.[accessedResource: NCIt:C27578][accessDate: 05-04-2011] DOID:633 Focal Myositides Focal Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011] Focal Myositis Focal Myositis[accessedResource: MSH:D009220][accessDate: 05-04-2011] GeneRIF:11829483 GeneRIF:12618121 GeneRIF:12667656 GeneRIF:12742663 GeneRIF:12937135 GeneRIF:14569203 GeneRIF:14741210 GeneRIF:15338498 GeneRIF:15950936 GeneRIF:16115818 ICD9:728.9 ICD9:729.1 IDIOPATHIC INFLAMM MYOPATHIES IDIOPATHIC INFLAMM MYOPATHIES[accessedResource: MSH:D009220][accessDate: 05-04-2011] INFECT MYOSITIS INFECT MYOSITIS[accessedResource: MSH:D009220][accessDate: 05-04-2011] INFLAMM MUSCLE DIS INFLAMM MUSCLE DIS[accessedResource: MSH:D009220][accessDate: 05-04-2011] INFLAMM MYOPATHIES IDIOPATHIC INFLAMM MYOPATHIES IDIOPATHIC[accessedResource: MSH:D009220][accessDate: 05-04-2011] INFLAMM MYOPATHY INFLAMM MYOPATHY[accessedResource: MSH:D009220][accessDate: 05-04-2011] Idiopathic Inflammatory Myopathies Idiopathic Inflammatory Myopathies[accessedResource: MSH:D009220][accessDate: 05-04-2011] Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myopathy[accessedResource: MSH:D009220][accessDate: 05-04-2011] Infectious Myositides Infectious Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011] Infectious Myositis Infectious Myositis[accessedResource: MSH:D009220][accessDate: 05-04-2011] Inflammation of a muscle or muscle tissue. Inflammation of a muscle or muscle tissue.[accessedResource: MSH:D009220][accessDate: 05-04-2011] Inflammatory Muscle Disease Inflammatory Muscle Disease[accessedResource: MSH:D009220][accessDate: 05-04-2011] Inflammatory Muscle Diseases Inflammatory Muscle Diseases[accessedResource: MSH:D009220][accessDate: 05-04-2011] Inflammatory Myopathies Inflammatory Myopathies, Idiopathic Inflammatory Myopathies, Idiopathic[accessedResource: MSH:D009220][accessDate: 05-04-2011] Inflammatory Myopathies[accessedResource: MSH:D009220][accessDate: 05-04-2011] Inflammatory Myopathy, Idiopathic Inflammatory Myopathy, Idiopathic[accessedResource: MSH:D009220][accessDate: 05-04-2011] Inflammatory disorder of muscle Inflammatory disorder of muscle (disorder) Inflammatory disorder of muscle (disorder)[accessedResource: DOID:633][accessDate: 05-04-2011] Inflammatory disorder of muscle[accessedResource: SNOMEDCT:128496001][accessDate: 05-04-2011] Inflammatory myopathy Inflammatory myopathy[accessedResource: SNOMEDCT:128496001][accessDate: 05-04-2011] James Malone MSH:D009220 MUSCLE DIS INFLAMM MUSCLE DIS INFLAMM[accessedResource: MSH:D009220][accessDate: 05-04-2011] MUSCLE/LIGAMENT DIS NOS MUSCLE/LIGAMENT DIS NOS[accessedResource: ICD9:728.9][accessDate: 05-04-2011] MYALGIA AND MYOSITIS NOS MYALGIA AND MYOSITIS NOS[accessedResource: ICD9:729.1][accessDate: 05-04-2011] MYOPATHIES IDIOPATHIC INFLAMM MYOPATHIES IDIOPATHIC INFLAMM[accessedResource: MSH:D009220][accessDate: 05-04-2011] MYOPATHY INFLAMM MYOPATHY INFLAMM[accessedResource: MSH:D009220][accessDate: 05-04-2011] MYOSITIS INFECT MYOSITIS INFECT[accessedResource: MSH:D009220][accessDate: 05-04-2011] Muscle Disease, Inflammatory Muscle Disease, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011] Muscle Diseases, Inflammatory Muscle Diseases, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011] Muscle inflammation Muscle inflammation[accessedResource: SNOMEDCT:26889001][accessDate: 05-04-2011] Mylagia and myositis, unspecified Mylagia and myositis, unspecified[accessedResource: ICD9:729.1][accessDate: 05-04-2011] Myopathies, Idiopathic Inflammatory Myopathies, Idiopathic Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myopathies, Inflammatory Myopathies, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myopathy, Idiopathic Inflammatory Myopathy, Idiopathic Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myopathy, Inflammatory Myopathy, Inflammatory[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myositides Myositides, Focal Myositides, Focal[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myositides, Infectious Myositides, Infectious[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myositides, Proliferative Myositides, Proliferative[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myositis (disorder) Myositis (disorder)[accessedResource: DOID:633][accessDate: 05-04-2011] Myositis NOS Myositis NOS[accessedResource: DOID:633][accessDate: 05-04-2011] Myositis unspecified Myositis unspecified (disorder) Myositis unspecified (disorder)[accessedResource: DOID:633][accessDate: 05-04-2011] Myositis unspecified[accessedResource: SNOMEDCT:203110007][accessDate: 05-04-2011] Myositis, Focal Myositis, Focal[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myositis, Infectious Myositis, Infectious[accessedResource: MSH:D009220][accessDate: 05-04-2011] Myositis, NOS Myositis, NOS[accessedResource: SNOMEDCT:26889001][accessDate: 05-04-2011] Myositis, Proliferative Myositis, Proliferative[accessedResource: MSH:D009220][accessDate: 05-04-2011] NCIt:C27578 OMIM:160750 Proliferative Myositides Proliferative Myositides[accessedResource: MSH:D009220][accessDate: 05-04-2011] Proliferative Myositis Proliferative Myositis[accessedResource: MSH:D009220][accessDate: 05-04-2011] SNOMEDCT:128496001 SNOMEDCT:203110007 SNOMEDCT:26889001 Tomasz Adamusiak Unspecified disorder of muscle, ligament, and fascia Unspecified disorder of muscle, ligament, and fascia[accessedResource: ICD9:728.9][accessDate: 05-04-2011] anatomy basic component James Malone MAT:0000000 true animal component James Malone MAT:0000001 fungal component James Malone MAT:0000002 plant component James Malone MAT:0000003 obsolete_adipose tissue 2.38 A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers. A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers.[accessedResource: NCIt:C12472][accessDate: 05-04-2011] Adipose Tissue[accessedResource: NCIt:C12472][accessDate: 05-04-2011] An organ system pertaining to fat. BODYFAT BODYFAT[accessedResource: NCIt:C12472][accessDate: 05-04-2011] BTO:0001487 Body Fat Body Fat[accessedResource: NCIt:C12472][accessDate: 05-04-2011] Connective tissue in which fat is stored and which has the cells distended by droplets of fat. Connective tissue in which fat is stored and which has the cells distended by droplets of fat.[accessedResource: BTO:0001487][accessDate: 05-04-2011] EV:0100382 FBbt:00005065 James Malone MA:0000009 NCIt:C12472 SAEL:2 The system of organs and cells involved in fat storage. The system of organs and cells involved in fat storage.[accessedResource: FBbt:00005065][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001013 label : adipose tissue adipose adipose system adipose system[accessedResource: FBbt:00005065][accessDate: 05-04-2011] adipose[accessedResource: NCIt:C12472][accessDate: 05-04-2011] fat fat tissue true obsolete_cardiovascular system BTO:0000088 CARDIOVASC SYSTEM CARDIOVASC SYSTEM[accessedResource: MSH:D002319][accessDate: 05-04-2011] CV system CV system[accessedResource: FMAID:7161][accessDate: 05-04-2011] Cardiovascular Systems Cardiovascular Systems[accessedResource: MSH:D002319][accessDate: 05-04-2011] EHDAA:394 EMAPA:16104 EV:0100017 FBbt:00005057 FMAID:7161 Herz und Gefaesssystem James Malone MA:0000010 MAT:0000016 MFO:000290 MSH:D002319 Organ system which consists of the heart, the systemic and pulmonary arterial and venous system, the lymphatic and the portal venous system. SAEL:16 System, Cardiovascular System, Cardiovascular[accessedResource: MSH:D002319][accessDate: 05-04-2011] Systems, Cardiovascular Systems, Cardiovascular[accessedResource: MSH:D002319][accessDate: 05-04-2011] TADS:0000146 TAO:0000010 The HEART and the BLOOD VESSELS by which BLOOD is pumped and circulated through the body. The HEART and the BLOOD VESSELS by which BLOOD is pumped and circulated through the body.[accessedResource: MSH:D002319][accessDate: 05-04-2011] The system of heart and blood vessels. The system of heart and blood vessels.[accessedResource: BTO:0000088][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000100 ZFA:0000010 circulatory system circulatory system[accessedResource: FBbt:00005057][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0004535 label: cardiovascular system true craniofacial tissue FBbt:00003007 James Malone MA:0000316 MAT:0000017 Organism subdivision which is the part of the body which consists of the cranial and pharyngeal regions. Organism subdivision which is the part of the body which consists of the cranial and pharyngeal regions.[accessedResource: ZFA:0001114][accessDate: 05-04-2011] TGMA:0000720 The larval cranium exclusive of the dorsal apotome. The larval cranium exclusive of the dorsal apotome.[accessedResource: TGMA:0000720][accessDate: 05-04-2011] ZFA:0001114 adult head[accessedResource: FBbt:00003007][accessDate: 05-04-2011] epicranial plate epicranial plate[accessedResource: TGMA:0000720][accessDate: 05-04-2011] head tissue head[accessedResource: ZFA:0001114][accessDate: 05-04-2011] obsolete_digestive system component AAO:0000129 Alimentary system[accessedResource: FMAID:7152][accessDate: 05-04-2011] Digestive system EHDAA:514 EMAPA:16246 EV:0100056 FBbt:00005055 FMAID:7152 James Malone MA:0000323 MAT:0000018 MFO:0002980 SAEL:28 TADS:0000170 TAO:0000339 The organ system involved in the absorption of nutrients. The organ system involved in the absorption of nutrients.[accessedResource: FBbt:00005055][accessDate: 05-04-2011] WBbt:0005748 XAO:0000125 ZFA:0000339 alimentary system digestive system[accessedResource: FBbt:00005055][accessDate: 05-04-2011] gastrointestinal system true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001007 label: digestive system animal developmental tissue . .[accessedResource: FBbt:00000052][accessDate: 05-04-2011] Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells. Anatomical structure that is part of the embryo and is comprised of portions of tissue or cells.[accessedResource: TAO:0001105][accessDate: 05-04-2011] FBbt:00000052 James Malone TAO:0001105 embryo[accessedResource: FBbt:00000052][accessDate: 05-04-2011] embryonic structure embryonic structure[accessedResource: TAO:0001105][accessDate: 05-04-2011] Dani Welter animal fluid James Malone MAT:0000020 fluid - animal fluid - animal[accessedResource: MAT:0000020][accessDate: 05-04-2011] obsolete_gland A cell, group of cells, or organ of endothelial origin that selectively removes materials from the blood, concentrates or alters them, and secretes them for further use in the body or for elimination from the body. A cell, group of cells, or organ of endothelial origin that selectively removes materials from the blood, concentrates or alters them, and secretes them for further use in the body or for elimination from the body.[accessedResource: BTO:0000522][accessDate: 05-04-2011] BTO:0000522 Druese Endocrine system of the adult. Endocrine system of the adult.[accessedResource: FBbt:00003214][accessDate: 05-04-2011] FBbt:00003214 James Malone MA:0002563 MA:0002564 SAEL:33 SAEL:37 TAO:0001158 XAO:0000158 adult endocrine system adult endocrine system[accessedResource: FBbt:00003214][accessDate: 05-04-2011] endocrine system endocrine system[accessedResource: TAO:0001158][accessDate: 05-04-2011] glandula true Use http://purl.obolibrary.org/obo/UBERON_0002530 label: gland 2.38 haemopoietic system James Malone MA:0002434 MAT:0000022 SAEL:48 XAO:0000122 hematological system hematological system[accessedResource: MAT:0000022][accessDate: 05-04-2011] hematolymphoid system obsolete_appendage 2.38 James Malone MAT:0000023 Use: http://purl.obolibrary.org/obo/UBERON_0000026 label: appendage true obsolete_liver and biliary system EHDAA:2189 EMAPA:16840 EV:0100088 James Malone MA:0000324 MAT:0000024 TAO:0000036 XAO:0000132 ZFA:0000036 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002423 label: hepatobiliary system obsolete_muscular system AAO:0000307 BTO:0001485 EV:0100146 FBbt:00005069 James Malone MA:0000015 MAT:0000025 MFO:0002100 Muskelsystem TADS:0000324 TAO:0000548 The bodily system that is composed of skeletal, smooth, and cardiac muscle tissue and functions in movement of the body or of materials through the body, maintenance of posture, and heat production. The bodily system that is composed of skeletal, smooth, and cardiac muscle tissue and functions in movement of the body or of materials through the body, maintenance of posture, and heat production.[accessedResource: BTO:0001485][accessDate: 05-04-2011] WBbt:0005737 ZFA:0000548 motor system muscle system muscle system[accessedResource: MAT:0000025][accessDate: 05-04-2011] muscle[accessedResource: TAO:0000548][accessDate: 05-04-2011] muscles muscles[accessedResource: TAO:0000548][accessDate: 05-04-2011] musculature musculature system musculature system[accessedResource: ZFA:0000548][accessDate: 05-04-2011] muscule system 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000383 label: musculature of body true obsolete_nervous system A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com) A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS). (Source: BioGlossary, www.Biology-Text.com)[accessedResource: TAO:0000396][accessDate: 05-04-2011] A regulatory system of the body that consists of neurons and neuroglial cells. The nervous system is divided into two parts, the central nervous system (CNS) and the peripheral nervous system (PNS).[accessedResource: ZFA:0000396][accessDate: 05-04-2011] AAO:0000324 All the nerve centers and nerve fibers in the central, visceral and peripheral nervous systems. All the nerve centers and nerve fibers in the central, visceral and peripheral nervous systems.[accessedResource: FBbt:00005093][accessDate: 05-04-2011] BTO:0001484 EHDAA:826 EMAPA:16469 EV:0100162 FBbt:00005093 FMAID:7157 James Malone MA:0000016 MAT:0000026 NIFSTD:birnlex_844 Nervensystem SAEL:71 TAO:0000396 The nervous system is essentially a biological information highway, and is responsible for controlling all the biological processes and movement in the body, and can also receive information and interpret it via electrical signals which are used in this nervous system. It consists of the Central Nervous System (CNS), essentially the processing area and the Peripheral Nervous System which detects and sends electrical impulses that are used in the nervous system. The nervous system is essentially a biological information highway, and is responsible for controlling all the biological processes and movement in the body, and can also receive information and interpret it via electrical signals which are used in this nervous system. It consists of the Central Nervous System (CNS), essentially the processing area and the Peripheral Nervous System which detects and sends electrical impulses that are used in the nervous system.[accessedResource: BTO:0001484][accessDate: 05-04-2011] Tomasz Adamusiak WBbt:0005735 XAO:0000177 ZFA:0000396 Use http://purl.obolibrary.org/obo/UBERON_0001016 label: nervous system true 2.38 renal system EHDAA:5901 EMAPA:17366 EV:0100095 FBbt:00005056 FMAID:7159 James Malone MAT:0000027 SAEL:116 Systema urinaria Systema urinaria[accessedResource: FMAID:7159][accessDate: 05-04-2011] TADS:0000162 TAO:0000163 Urinary system[accessedResource: FMAID:7159][accessDate: 05-04-2011] WBbt:0005736 XAO:0000143 ZFA:0000163 excretory system excretory system[accessedResource: FBbt:00005056][accessDate: 05-04-2011] renal/urinary system renal/urinary system[accessedResource: MAT:0000027][accessDate: 05-04-2011] urinary system obsolete_respiratory system structure . .[accessedResource: FBbt:00005024][accessDate: 05-04-2011] A system of organs subserving the function of respiration and in air-breathing vertebrates consisting typically of the lungs and their nervous and circulatory supply and the channels by which these are continuous with the outer air. A system of organs subserving the function of respiration and in air-breathing vertebrates consisting typically of the lungs and their nervous and circulatory supply and the channels by which these are continuous with the outer air.[accessedResource: BTO:0000203][accessDate: 05-04-2011] AAO:0000541 Apparatus respiratorius Apparatus respiratorius[accessedResource: FMAID:7158][accessDate: 05-04-2011] Atmungssystem BTO:0000203 EHDAA:2203 EMAPA:16727 EV:0100036 FBbt:00005024 FMAID:7158 Functional system which consists of structures involved in respiration. James Malone MA:0000327 MAT:0000030 MFO:0003160 Respiratory system SAEL:90 TADS:0000043 TAO:0000272 XAO:0000117 apparatus respiratorius respiratory system[accessedResource: MAT:0000030][accessDate: 05-04-2011] respiratory tract tracheal system tracheal system[accessedResource: FBbt:00005024][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001004 label: respiratory system obsolete_sensory system AAO:0000555 FBbt:00005155 James Malone MA:0002442 MAT:0000031 MFO:0003460 Multicellular anatomical structure with largely bona fide boundary that transduces some sensory stimulus to the nervous system. Multicellular anatomical structure with largely bona fide boundary that transduces some sensory stimulus to the nervous system.[accessedResource: FBbt:00005155][accessDate: 05-04-2011] TAO:0000182 WBbt:0005832 ZFA:0000282 central caudal thalamic nucleus central caudal thalamic nucleus[accessedResource: TAO:0000182][accessDate: 05-04-2011] central posterior thalamic nucleus central posterior thalamic nucleus[accessedResource: TAO:0000182][accessDate: 05-04-2011] sense organ sense organ[accessedResource: FBbt:00005155][accessDate: 05-04-2011] sensory systems sensory systems[accessedResource: ZFA:0000282][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001032 label: sensory system 2.38 obsolete_skeletal system Anatomical system consisting of multiple elements and tissues that provides physical support. Anatomical system consisting of multiple elements and tissues that provides physical support.[accessedResource: TAO:0000434][accessDate: 05-04-2011] EHDAA:5047 EMAPA:17213 FMAID:23875 James Malone MA:0000018 MAT:0000032 Set of all bones Set of all bones[accessedResource: FMAID:23875][accessDate: 05-04-2011] Set of bones in the entire body. Set of bones of body Set of bones of body[accessedResource: FMAID:23875][accessDate: 05-04-2011] Skeleton (in vivo) Skeleton (in vivo)[accessedResource: FMAID:23875][accessDate: 05-04-2011] TAO:0000434 ZFA:0000434 skeleton skeleton component skeleton component[accessedResource: MAT:0000032][accessDate: 05-04-2011] skeleton[accessedResource: MAT:0000032][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001434 label: skeletal system true 2.38 obsolete_integumental system A division of the whole organism into specialized systems. A division of the whole organism into specialized systems.[accessedResource: FBbt:00004856][accessDate: 05-04-2011] AAO:0000239 BTO:0000634 EHDAA:6520 EMAPA:17524 EV:0100151 FBbt:00004856 FMAID:72979 Hautsystem Integumentary system Integumentary system[accessedResource: FMAID:72979][accessDate: 05-04-2011] James Malone MA:0000014 MAT:0000033 Something that covers or encloses; especially: an enveloping layer (as a skin, membrane, or husk) of an organism or one of its parts. Something that covers or encloses; especially: an enveloping layer (as a skin, membrane, or husk) of an organism or one of its parts.[accessedResource: BTO:0000634][accessDate: 05-04-2011] TADS:0000108 The taxon-independent term for the outer covering of an organism The taxon-independent term for the outer covering of an organism[accessedResource: MAT:0000033][accessDate: 05-04-2011] WBbt:0005730 XAO:0000176 dermal system dermoid system epithelial system - sensu C elegans integument integument[accessedResource: MAT:0000033][accessDate: 05-04-2011] organ system organ system[accessedResource: FBbt:00004856][accessDate: 05-04-2011] tegument true Use http://purl.obolibrary.org/obo/UBERON_0002416 label: integumental system 2.38 animal body part Anatomical structure which is a primary subdivision of whole organism. The mereological sum of these is the whole organism. Anatomical structure which is a primary subdivision of whole organism. The mereological sum of these is the whole organism.[accessedResource: TAO:0001308][accessDate: 05-04-2011] Anatomical structure, which is a subdivision of a cardinal body part; it may exclude bones; is demarcated from other subdivisions of the same cardinal body part by anatomical surfaces or lines or topographical references; together with other contiguous subdivisions of the same cardinal body part, it constitutes a cardinal body part. Examples: thorax, perineum, back of neck, forearm, hand, phalanx, nose, auricle of ear, scrotum. EV:0100008 FMAID:67504 James Malone MAT:0000293 Principal body part subdivision Principal body part subdivision[accessedResource: FMAID:67504][accessDate: 05-04-2011] Subdivision of cardinal body part Subdivision of cardinal body part[accessedResource: FMAID:67504][accessDate: 05-04-2011] TAO:0001308 XAO:0003013 anatomical site body part body part[accessedResource: TAO:0001308][accessDate: 05-04-2011] organism subdivision organism subdivision[accessedResource: TAO:0001308][accessDate: 05-04-2011] animal reproductive system EHDAA:5923 EMAPA:17381 EV:0100100 FBbt:00004857 FMAID:7160 Genital system[accessedResource: FMAID:7160][accessDate: 05-04-2011] James Malone MAT:0000305 SAEL:89 TAO:0000632 XAO:0000142 genital system reproductive system reproductive system - animals reproductive system - animals[accessedResource: MAT:0000305][accessDate: 05-04-2011] reproductive system[accessedResource: FBbt:00004857][accessDate: 05-04-2011] fat body sensu invertebrata . A fat body is an insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism. A fat body is an insect gland dorsal to the insect gut, with a function analogous to that of the vertebrate liver. It is a storage organ for fats, glycogen and protein and is a major site of intermediary metabolism.[accessedResource: TGMA:0001856][accessDate: 05-04-2011] An invertebrate tissue which serves as a store of lipids and in nwhich a great deal of catabolic and anabolic activity occurs An invertebrate tissue which serves as a store of lipids and in nwhich a great deal of catabolic and anabolic activity occurs[accessedResource: MAT:0000096][accessDate: 05-04-2011] Collective term for the masses and sheets of adipose tissue that are distributed throughout the organism's body. Collective term for the masses and sheets of adipose tissue that are distributed throughout the organism's body.[accessedResource: FBbt:00005066][accessDate: 05-04-2011] FBbt:00005066 James Malone MAT:0000096 TADS:0000321 TGMA:0001856 fat body fat body[accessedResource: FBbt:00005066][accessDate: 05-04-2011] fat body sensu amphibia AAO:0000157 An adipose tissue associated with the amphibiian gonad An adipose tissue associated with the amphibiian gonad[accessedResource: MAT:0000456][accessDate: 05-04-2011] Fat_bodies Fat_bodies[accessedResource: MAT:0000456][accessDate: 05-04-2011] James Malone MAT:0000456 brown fat A mammalian heat-producing tissue occurring especially in human newborns and in hibernators. A mammalian heat-producing tissue occurring especially in human newborns and in hibernators.[accessedResource: BTO:0000156][accessDate: 05-04-2011] Adipose Tissue - Brown (MMHCC) Adipose Tissue - Brown (MMHCC)[accessedResource: NCIt:C22704][accessDate: 05-04-2011] BTO:0000156 James Malone MA:0000057 MAT:0000198 NCIt:C22704 brown adipose tissue brown adipose tissue[accessedResource: BTO:0000156][accessDate: 05-04-2011] white fat James Malone MA:0000058 MAT:0000199 obsolete_artery Any of the tubular branching muscular- and elastic-walled vessels that carry blood from the heart through the body. Any of the tubular branching muscular- and elastic-walled vessels that carry blood from the heart through the body.[accessedResource: BTO:0000573][accessDate: 05-04-2011] Arterial subtree Arterial subtree[accessedResource: FMAID:50720][accessDate: 05-04-2011] Arterial tree organ part Arterial tree organ part[accessedResource: FMAID:50720][accessDate: 05-04-2011] Arterial vessel Arterial vessel[accessedResource: FMAID:50720][accessDate: 05-04-2011] BTO:0000573 EHDAA:396 EMAPA:16201 EV:0100026 FMAID:50720 James Malone MA:0000061 MAT:0000034 MFO:0002900 Subdivision of arterial tree (organ) which consists of branching sets of tubes (arterial trunk) that form a tree; together with other arterial trees (organ part), it constitutes an arterial tree (organ). Examples: pulmonary arterial tree, right coronary arterial tree, superior mesenteric tree. TAO:0000005 Vessels that carry blood away from the heart. Vessels that carry blood away from the heart.[accessedResource: ZFA:0000005][accessDate: 05-04-2011] XAO:0000114 ZFA:0000005 arterial system arterial system[accessedResource: TAO:0000005][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001637 label: artery 2.38 obsolete_heart 1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood. n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart. 1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood.n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart. 1: A hollow muscular organ of vertebrate animals that by its rhythmic contraction acts as a force pump maintaining the circulation of the blood.n2: A structure in an invertebrate animal functionally analogous to the vertebrate heart.[accessedResource: BTO:0000562][accessDate: 05-04-2011] BTO:0000562 Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus. Blood pumping organ composed of four chambers: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[accessedResource: TAO:0000114][accessDate: 05-04-2011] Blood pumping organ composed of four components: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus. Blood pumping organ composed of four components: sinus venosus, atrium, cardiac ventricle and bulbus arteriosus.[accessedResource: ZFA:0000114][accessDate: 05-04-2011] EHDAA:420 EMAPA:16105 EV:0100018 FBbt:00003154 FMAID:7088 Herz James Malone MAT:0000036 MFO:0080860 Organ with cavitated organ parts, which is continuous with the systemic and pulmonary arterial and venous trees. Examples: There is only one heart. SAEL:47 TADS:0000147 TAO:0000114 XAO:0000064 ZFA:0000114 adult heart adult heart[accessedResource: FBbt:00003154][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000948 label: heart obsolete_vein Any of the tubular branching vessels that carry blood from the capillaries toward the heart. Any of the tubular branching vessels that carry blood from the capillaries toward the heart.[accessedResource: BTO:0000234][accessDate: 05-04-2011] BTO:0000234 EHDAA:486 EMAPA:16240 EV:0100031 FMAID:50723 James Malone MA:0000066 MAT:0000037 Subdivision of venous tree (organ) which consists of branching sets of tubes (venous trunks) that form a tree; together with other venous trees (organ part), it constitutes a venous tree (organ). Examples: subclavian venous tree, jugular tree, extrahepatic portal tree, common iliac venous tree. TAO:0000082 Venous subtree Venous subtree[accessedResource: FMAID:50723][accessDate: 05-04-2011] Venous tree organ part Venous tree organ part[accessedResource: FMAID:50723][accessDate: 05-04-2011] Venous vessel[accessedResource: FMAID:50723][accessDate: 05-04-2011] Vessels that carry blood to the heart. Vessels that carry blood to the heart.[accessedResource: ZFA:0000082][accessDate: 05-04-2011] XAO:0000115 ZFA:0000082 venous system venous system[accessedResource: MAT:0000037][accessDate: 05-04-2011] venous vessel true Use http://purl.obolibrary.org/obo/UBERON_0001638 Label : vein 2.38 obsolete_blood vessel Any of the vessels through which blood circulates in the body. Any of the vessels through which blood circulates in the body.[accessedResource: BTO:0001102][accessDate: 05-04-2011] BTO:0001102 EV:0100456 James Malone MAT:0000393 MFO:0002960 MSH:D001808 SAEL:9 TAO:0001079 blood vasculature blood vasculature[accessedResource: TAO:0001079][accessDate: 05-04-2011] blood vessels blood vessels[accessedResource: TAO:0001079][accessDate: 05-04-2011] circulatory system circulatory system[accessedResource: TAO:0001079][accessDate: 05-04-2011] true vasculature vasculature[accessedResource: MAT:0000393][accessDate: 05-04-2011] vessel vessel[accessedResource: MAT:0000393][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001981 label: blood vessel true carotid artery A key artery located in the front of the neck that carries blood from the heart to the brain. Cholesterol plaques on the inner wall of the carotid artery can lead to stroke. A key artery located in the front of the neck that carries blood from the heart to the brain. Cholesterol plaques on the inner wall of the carotid artery can lead to stroke.[accessedResource: BTO:0000168][accessDate: 05-04-2011] Arteries, Carotid Arteries, Carotid[accessedResource: MSH:D002339][accessDate: 05-04-2011] Arteries, Common Carotid Arteries, Common Carotid[accessedResource: MSH:D017536][accessDate: 05-04-2011] Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Kimmel et al, 1995. Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Kimmel et al, 1995.[accessedResource: TAO:0000097][accessDate: 05-04-2011] Artery originating at the junction of the first two aortic arches and supplying the anterior brain.[accessedResource: ZFA:0000097][accessDate: 05-04-2011] Artery, Carotid Artery, Carotid[accessedResource: MSH:D002339][accessDate: 05-04-2011] Artery, Common Carotid Artery, Common Carotid[accessedResource: MSH:D017536][accessDate: 05-04-2011] BTO:0000168 Carotid Arteries Carotid Arteries, Common Carotid Arteries, Common[accessedResource: MSH:D017536][accessDate: 05-04-2011] Carotid Arteries[accessedResource: MSH:D002339][accessDate: 05-04-2011] Carotid Artery, Common Carotid Artery, Common[accessedResource: MSH:D017536][accessDate: 05-04-2011] Common Carotid Arteries Common Carotid Arteries[accessedResource: MSH:D017536][accessDate: 05-04-2011] Common Carotid Artery Common carotid artery[accessedResource: FMAID:3939][accessDate: 05-04-2011] EHDAA:6373 EMAPA:18609 EV:0100379 Either of the two principal arteries on both sides of the neck that supply blood to the head and neck; each divides into two branches, the internal carotid artery and the external carotid artery. Either of the two principal arteries on both sides of the neck that supply blood to the head and neck; each divides into two branches, the internal carotid artery and the external carotid artery.[accessedResource: MSH:D002339][accessDate: 05-04-2011] FMAID:3939 James Malone MA:0001925 MSH:D002339 MSH:D017536 TAO:0000097 The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries. The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries.[accessedResource: MSH:D017536][accessDate: 05-04-2011] Tomasz Adamusiak Trunk of common carotid tree Trunk of common carotid tree[accessedResource: FMAID:3939][accessDate: 05-04-2011] XAO:0000345 ZFA:0000097 internal carotid artery[accessedResource: TAO:0000097][accessDate: 05-04-2011] true obsolete_myocardium BTO:0000199 BTO:0000901 EMAPA:16208 EV:0100022 FMAID:9462 Heart muscle Heart muscle[accessedResource: FMAID:9462][accessDate: 05-04-2011] James Malone MA:0000080 MAT:0000453 Muscle layer of organ which has as its parts the myocardium proper and the conducting system of the heart. Muscle of heart Muscle of heart[accessedResource: FMAID:9462][accessDate: 05-04-2011] TAO:0001319 The middle and thickest layer of the heart wall, composed of cardiac muscle. The middle and thickest layer of the heart wall, composed of cardiac muscle.[accessedResource: BTO:0000901][accessDate: 05-04-2011] The principal muscle tissue of the vertebrate heart made up of striated fibers that appear to be separated from each other under the electron microscope but that function in long-term rhythmic contraction as if in protoplasmic continuity. The principal muscle tissue of the vertebrate heart made up of striated fibers that appear to be separated from each other under the electron microscope but that function in long-term rhythmic contraction as if in protoplasmic continuity.[accessedResource: BTO:0000199][accessDate: 05-04-2011] XAO:0000065 ZFA:0001319 cardiac muscle cardiac muscle[accessedResource: MAT:0000453][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002349 label: myocardium obsolete_pericardium 1: The conical sac of serous membrane that encloses the heart and the roots of the great blood vessels of vertebrates.n2: A cavity or space that contains the heart of an invertebrate and in arthropods is a part of the hemocoel. 1: The conical sac of serous membrane that encloses the heart and the roots of the great blood vessels of vertebrates.n2: A cavity or space that contains the heart of an invertebrate and in arthropods is a part of the hemocoel.[accessedResource: BTO:0000717][accessDate: 05-04-2011] BTO:0000717 EHDAA:5376 EMAPA:17174 EV:0100023 FMAID:9869 James Malone MAT:0000454 Organ cluster which has as its parts the fibrous pericardium and the pericardial sac. ZFA:0000054 pericardial sac pericardial sac[accessedResource: ZFA:0000054][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002407 label: pericardium true obsolete_endocardium A thin serous membrane lining the cavities of the heart. A thin serous membrane lining the cavities of the heart.[accessedResource: BTO:0000387][accessDate: 05-04-2011] BTO:0000387 EMAPA:17868 EV:0100021 FMAID:7280 James Malone Layer that lines the lumen of the heart. Layer that lines the lumen of the heart.[accessedResource: ZFA:0001320][accessDate: 05-04-2011] MA:0000076 MAT:0000455 TAO:0001320 Tunica intima which has as its parts the endothelium of endocardium and the fibroelastic connective tissue that surrounds the cavity of a cardiac chamber. ZFA:0001320 Use http://purl.obolibrary.org/obo/UBERON_0002165 label: endocardium true 2.38 obsolete_mouth structure AAO:0000053 BTO:0001090 EMAPA:16262 EV:0100057 FBbt:00003126 FMAID:49184 James Malone MA:0000341 MAT:0000038 Mouth Oral part of face Oral part of face[accessedResource: FMAID:49184][accessDate: 05-04-2011] Oral region Oral region[accessedResource: FMAID:49184][accessDate: 05-04-2011] Rima oris TADS:0000040 TAO:0000547 TGMA:0000131 The anterior opening of the stomodeum located between the cibarium and pharynx; not to be confused with the secondary mouth (anterior opening of the cibarium) or the tertiary mouth (anterior opening of the food meatus). The anterior opening of the stomodeum located between the cibarium and pharynx; not to be confused with the secondary mouth (anterior opening of the cibarium) or the tertiary mouth (anterior opening of the food meatus).[accessedResource: TGMA:0000131][accessDate: 05-04-2011] The natural opening through which food passes into the body of an animal and which in vertebrates is typically bounded externally by the lips and internally by the pharynx and encloses the tongue, gums, and teeth. The natural opening through which food passes into the body of an animal and which in vertebrates is typically bounded externally by the lips and internally by the pharynx and encloses the tongue, gums, and teeth.[accessedResource: BTO:0001090][accessDate: 05-04-2011] The opening of the adult alimentary canal in the tip of the labrum. The opening of the adult alimentary canal in the tip of the labrum.[accessedResource: FBbt:00003126][accessDate: 05-04-2011] WBbt:0005255 XAO:0000126 XAO:0003029 ZFA:0000547 adult mouth adult mouth[accessedResource: TGMA:0000131][accessDate: 05-04-2011] anatomische Mund buccal cavity cavitas oris cavum oris mouth cavity mouth[accessedResource: MAT:0000038][accessDate: 05-04-2011] oral cavity oral cavity[accessedResource: MAT:0000038][accessDate: 05-04-2011] oral fissure oral vestibule pharyngeal valve valve vestibule of mouth vestibulum oris true Use http://purl.obolibrary.org/obo/UBERON_0000165 label: mouth 2.38 ear AAO:0000631 BTO:0000368 EHDAA:502 EMAPA:16193 EV:0100353 FMAID:52780 James Malone MA:0000236 MAT:0000138 MFO:0003660 NIFSTD:birnlex_1062 TAO:0001138 The organ of hearing. The organ of hearing.[accessedResource: BTO:0000368][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000189 ZFA:0001138 auditory apparatus auditory apparatus[accessedResource: MAT:0000138][accessDate: 05-04-2011] auditory system auris otic vesicle vestibuloauditory system vestibuloauditory system[accessedResource: TAO:0001138][accessDate: 05-04-2011] vestibuloauditpry system obsolete_eye structure A cavitated compound organ that transduces light waves into neural signals. A cavitated compound organ that transduces light waves into neural signals.[accessedResource: TAO:0000107][accessDate: 05-04-2011] A light-perceptive organ consisting of an aggregation of optic elements (ommatidia) generally located on each side of the head; the cuticular part (cornea) consists of several hundred circular corneal facets (lenses); bounded by the ocular sclerite. A light-perceptive organ consisting of an aggregation of optic elements (ommatidia) generally located on each side of the head; the cuticular part (cornea) consists of several hundred circular corneal facets (lenses); bounded by the ocular sclerite.[accessedResource: TGMA:0000024][accessDate: 05-04-2011] AAO:0000632 An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired. An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.[accessedResource: BTO:0000439][accessDate: 05-04-2011] An organ of sight; especially: a nearly spherical hollow organ that is lined with a sensitive retina, is lodged in a bony orbit in the skull, is the vertebrate organ of sight, and is normally paired.n2: All the visible structures within and surrounding the orbit and including eyelids, eyelashes, and eyebrows. BTO:0000439 Cavitated compound organ that consists of the neural retina, lens, cornea and iris and is the sensory apparatus of the visual system. Cavitated compound organ that consists of the neural retina, lens, cornea and iris and is the sensory apparatus of the visual system.[accessedResource: ZFA:0000107][accessDate: 05-04-2011] EHDAA:936 EMAPA:16198 EV:0100336 FBbt:00004508 FMAID:54448 Facettenauge James Malone Komplexauge MA:0000261 MAT:0000140 MFO:0003480 MSH:D005123 NIFSTD:birnlex_1169 Orbital part of face Orbital region Orbital region[accessedResource: FMAID:54448][accessDate: 05-04-2011] TADS:0000061 TAO:0000107 TAO:0001127 TGMA:0000024 The compound eye is a light sensing organ composed of ommatidia. The compound eye is a light sensing organ composed of ommatidia.[accessedResource: FBbt:00004508][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000179 ZFA:0000107 adult compound eye adult compound eye[accessedResource: MAT:0000140][accessDate: 05-04-2011] compound eye eye eye[accessedResource: BTO:0000439][accessDate: 05-04-2011] eyeball eyeball[accessedResource: TAO:0000107][accessDate: 05-04-2011] eyes eyes[accessedResource: ZFA:0000107][accessDate: 05-04-2011] true visual apparatus visual system visual system[accessedResource: TAO:0001127][accessDate: 05-04-2011] visual_system visual_system[accessedResource: MAT:0000140][accessDate: 05-04-2011] zusammengesetztes Auge Use http://purl.obolibrary.org/obo/UBERON_0000970 label: eye 2.38 true nose structure *Subdivision of face which consists of the nasal skeleton, nasal septum and nasal cavity. 1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.n1b: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2: The vertebrate olfactory organ. 1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.n1b: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2: The vertebrate olfactory organ.[accessedResource: BTO:0000840][accessDate: 05-04-2011] 1a: The part of the face that bears the nostrils and covers the anterior part of the nasal cavity; broadly: this part together with the nasal cavity.nb: The anterior part of the head at the top or end of the muzzle: snout, proboscis.n2. The vertebrate olfactory organ. AAO:0000334 Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception (GO:0050907). Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception (GO:0050907).[accessedResource: FBbt:00005157][accessDate: 05-04-2011] Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception (GO:0050907)'. BTO:0000840 EHDAA:1502 EMAPA:16542 EV:0100037 FBbt:00005157 FMAID:46472 James Malone MA:0000281 MFO:0003640 Nose[accessedResource: FMAID:46472][accessDate: 05-04-2011] SAEL:72 TAO:0001149 XAO:0000201 XAO:0003033 ZFA:0001149 chemosensory sensory organ chemosensory sensory organ[accessedResource: FBbt:00005157][accessDate: 05-04-2011] nose olfactory system[accessedResource: TAO:0001149][accessDate: 05-04-2011] taste system Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912). Any sense organ (FBbt:00005155) that functions in (some) detection of chemical stimulus involved in sensory perception of taste (GO:0050912).[accessedResource: FBbt:00005159][accessDate: 05-04-2011] Any sense organ (FBbt:00005155) that has function 'detection of chemical stimulus involved in sensory perception of taste (GO:0050912)'. FBbt:00005159 FMAID:7194 Gustatory organ system Gustatory organ system[accessedResource: FMAID:7194][accessDate: 05-04-2011] James Malone MAT:0000275 TAO:0001101 ZFA:0001101 gustatory sensory organ gustatory sensory organ[accessedResource: FBbt:00005159][accessDate: 05-04-2011] gustatory system gustatory system[accessedResource: TAO:0001101][accessDate: 05-04-2011] obsolete_cranium 1: The skull of a vertebrate.n2: The portion of the skull enclosing the brain; the braincase. 1: The skull of a vertebrate.n2: The portion of the skull enclosing the brain; the braincase.[accessedResource: BTO:0001295][accessDate: 05-04-2011] BTO:0001295 EHDAA:6029 EMAPA:17680 FMAID:87596 James Malone Kopfkapsel MA:0000316 MAT:0000340 Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium. Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium.[accessedResource: ZFA:0000737][accessDate: 05-04-2011] Skeletal system which is part of the skull, including the splanchnocranium, chondrocranium, and dermatocranium. Skeletal system which is part of the skull, including the splanchnocranium, chondrocranium, and dermatocranium.[accessedResource: TAO:0000737][accessDate: 05-04-2011] TAO:0000737 TGMA:0000003 The sclerotized skull-like part of the head. The sclerotized skull-like part of the head.[accessedResource: TGMA:0000003][accessDate: 05-04-2011] ZFA:0000737 adult cranium adult cranium[accessedResource: TGMA:0000003][accessDate: 05-04-2011] cranial skeleton cranial skeleton[accessedResource: TAO:0000737][accessDate: 05-04-2011] craniofacial skeleton bone skeletal system of head skeletal system of head[accessedResource: MAT:0000340][accessDate: 05-04-2011] skull skull[accessedResource: TAO:0000737][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0003128 label: cranium 2.38 true obsolete_retina structure BTO:0001175 EHDAA:4757 EMAPA:17168 EV:0100348 FBbt:00004200 FMAID:58301 Inner layer of eyeball Inner layer of eyeball[accessedResource: FMAID:58301][accessDate: 05-04-2011] James Malone Layer of wall of eyeball which is continuous with optic nerve. MA:0000276 MAT:0000142 MFO:0003600 Multi-tissue structure that contains the retinal neural layer and the retinal pigmented epithelium, and develops from the optic cup. Multi-tissue structure that contains the retinal neural layer and the retinal pigmented epithelium, and develops from the optic cup.[accessedResource: ZFA:0000152][accessDate: 05-04-2011] NIFSTD:birnlex_1153 Netzhaut SAEL:91 TADS:0000551 TAO:0000152 The array of photoreceptors & the cells that support them in a compound eye. The array of photoreceptors and the cells that support them in a compound eye. The array of photoreceptors and the cells that support them in a compound eye.[accessedResource: FBbt:00004200][accessDate: 05-04-2011] The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995. The portion of the eye developing from the optic primordium and including the neural retina and the retinal pigment layer. Kimmel et al, 1995.[accessedResource: TAO:0000152][accessDate: 05-04-2011] The sensory membrane that lines the eye, is composed of several layers including one containing the rods and cones, and functions as the immediate instrument of vision by receiving the image formed by the lens and converting it into chemical and nervous signals which reach the brain by way of the optic nerve. The sensory membrane that lines the eye, is composed of several layers including one containing the rods and cones, and functions as the immediate instrument of vision by receiving the image formed by the lens and converting it into chemical and nervous signals which reach the brain by way of the optic nerve.[accessedResource: BTO:0001175][accessDate: 05-04-2011] Tomasz Adamusiak Tunica interna of eyeball Tunica interna of eyeball[accessedResource: FMAID:58301][accessDate: 05-04-2011] XAO:0000009 ZFA:0000152 retina retina[accessedResource: ZFA:0000152][accessDate: 05-04-2011] retinas retinas[accessedResource: ZFA:0000152][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000966 label: retina true 2.38 obsolete_tongue A fleshy movable process of the floor of the mouths of most vertebrates that bears sensory end organs and small glands and functions especially in taking and swallowing food and in humans as a speech organ. A fleshy movable process of the floor of the mouths of most vertebrates that bears sensory end organs and small glands and functions especially in taking and swallowing food and in humans as a speech organ.[accessedResource: BTO:0001385][accessDate: 05-04-2011] BTO:0001385 EHDAA:9144 EMAPA:18870 EV:0100058 FMAID:54640 James Malone MA:0000347 MAT:0000040 SAEL:109 XAO:0000446 Use http://purl.obolibrary.org/obo/UBERON_0001723 label: tongue 2.38 true obsolete_intestine AAO:0000246 BTO:0000648 Bowel Bowel[accessedResource: FMAID:7199][accessDate: 05-04-2011] EHDAA:518 EV:0100071 FMAID:7199 James Malone MA:0000328 MAT:0000043 MFO:0003040 SAEL:55 TADS:0000165 TAO:0001338 TGMA:0001819 The fluid-feeding habit of adult mosquitoes is reflected in the structure and ultrastructure of the alimentary canal. The fluid-feeding habit of adult mosquitoes is reflected in the structure and ultrastructure of the alimentary canal.[accessedResource: TGMA:0001819][accessDate: 05-04-2011] The tubular part of the alimentary canal that extends from the stomach to the anus. The tubular part of the alimentary canal that extends from the stomach to the anus.[accessedResource: BTO:0000648][accessDate: 05-04-2011] WBbt:0005772 XAO:0000129 ZFA:0001338 adult alimentary canal adult alimentary canal[accessedResource: MAT:0000043][accessDate: 05-04-2011] gut gut[accessedResource: MAT:0000043][accessDate: 05-04-2011] intestines intestines[accessedResource: MAT:0000043][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000160 label: intestine obsolete_esophagus A muscular tube that in humans is about nine inches (23 centimeters) long and passes from the pharynx down the neck between the trachea and the spinal column and behind the left bronchus where it pierces the diaphragm slightly to the left of the middle line and joins the cardiac end of the stomach. A muscular tube that in humans is about nine inches (23 centimeters) long and passes from the pharynx down the neck between the trachea and the spinal column and behind the left bronchus where it pierces the diaphragm slightly to the left of the middle line and joins the cardiac end of the stomach.[accessedResource: BTO:0000959][accessDate: 05-04-2011] AAO:0000145 BTO:0000959 EHDAA:2937 EMAPA:16833 EV:0100069 FBbt:00005381 FMAID:7131 Gullet[accessedResource: FMAID:7131][accessDate: 05-04-2011] James Malone MAT:0000048 MFO:0003000 Organ with organ cavity which is continuous superiorly with the pharynx and inferiorly with the stomach. Examples: There is only one esophagus. SAEL:74 TADS:0000057 TAO:0000204 TGMA:0000134 The part of the stomodeum following the pharynx. The part of the stomodeum following the pharynx.[accessedResource: TGMA:0000134][accessDate: 05-04-2011] XAO:0000127 ZFA:0000204 adult oesophagus adult oesophagus[accessedResource: TGMA:0000134][accessDate: 05-04-2011] gullet oesophagus oesophagus[accessedResource: ZFA:0000204][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001043 label: esophagus 2.38 pharynx structure BTO:0001049 EHDAA:2947 EMAPA:16706 EV:0100065 FBbt:00005380 FMAID:46688 James Malone MA:0000432 MAT:0000049 MFO:0003080 Pharynx Postpharynx Praepharynx Pumporgan SAEL:82 Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995. Swollen region of the anterior foregut, posterior to the mouth and anterior to the liver; its walls form the jaws and gills. Kimmel et al, 1995.[accessedResource: TAO:0000056][accessDate: 05-04-2011] TADS:0000042 TAO:0000056 TGMA:0000132 The part of the stomodeum between the mouth and the oesophagus. The part of the stomodeum between the mouth and the oesophagus.[accessedResource: TGMA:0000132][accessDate: 05-04-2011] The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines. The part of the vertebrate alimentary canal between the cavity of the mouth and the esophagus.nThe pharynx of Nematodes is an efficient pump and forces food into the intestines.[accessedResource: BTO:0001049][accessDate: 05-04-2011] WBbt:0003681 adult pharynx adult pharynx[accessedResource: TGMA:0000132][accessDate: 05-04-2011] anterior pharynx antlia muscular dilation of the oesophagus pharyngeal valve pharynx[accessedResource: BTO:0001049][accessDate: 05-04-2011] post-pharynx posterior pharynx pump pumping organ obsolete_stomach A dilatation of the alimentary canal of a vertebrate communicating anteriorly with the esophagus and posteriorly with the duodenum. A dilatation of the alimentary canal of a vertebrate communicating anteriorly with the esophagus and posteriorly with the duodenum.[accessedResource: BTO:0001307][accessDate: 05-04-2011] A flask-shaped posterior region, which retains the blood meal, and which in culicines is capable of much distension. A flask-shaped posterior region, which retains the blood meal, and which in culicines is capable of much distension.[accessedResource: TGMA:0001041][accessDate: 05-04-2011] AAO:0000579 BTO:0001307 EHDAA:2993 EMAPA:17021 EV:0100070 FMAID:7148 James Malone MA:00000353 MAT:0000051 MFO:0003120 Organ with organ cavity which is continuous proximally with the esophagus and distally with the small intestine. Examples: There is only one stomach. SAEL:102 TADS:0000172 TGMA:0001041 XAO:0000128 adult stomach adult stomach[accessedResource: TGMA:0001041][accessDate: 05-04-2011] gaster Use http://purl.obolibrary.org/obo/UBERON_0000945 label: stomach true 2.38 obsolete_larynx AAO:0000268 BTO:0001208 EMAPA:18333 EV:0100039 FMAID:55097 Heterogeneous cluster that connects the pharynx to the tracheobronchial tree. Examples: There is only one larynx. James Malone MA:0000414 MAT:0000187 SAEL:59 The modified upper part of the trachea of air-breathing vertebrates that in humans, most other mammals, and a few lower forms contains the vocal cords. The modified upper part of the trachea of air-breathing vertebrates that in humans, most other mammals, and a few lower forms contains the vocal cords.[accessedResource: BTO:0001208][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001737 label: larynx 2.38 true tooth 1: One of the hard bony appendages that are borne on the jaws or in many of the lower vertebrates on other bones in the walls of the mouth or pharynx and serve especially for the prehension and mastication of food and as weapons of offense and defense.n2: Any of various usually hard and sharp processes especially about the mouth of an invertebrate. 1: One of the hard bony appendages that are borne on the jaws or in many of the lower vertebrates on other bones in the walls of the mouth or pharynx and serve especially for the prehension and mastication of food and as weapons of offense and defense.n2: Any of various usually hard and sharp processes especially about the mouth of an invertebrate.[accessedResource: BTO:0000397][accessDate: 05-04-2011] BTO:0000397 EHDAA:8009 EMAPA:17938 EV:0100063 FMAID:12516 James Malone MA:0000348 Organ with a cavity which consist of dentine and enamel. Examples: incisor, molar. SAEL:110 XAO:0000431 ZFA:0000644 dental plate dental plate[accessedResource: ZFA:0000644][accessDate: 05-04-2011] dental plates dental plates[accessedResource: ZFA:0000644][accessDate: 05-04-2011] obsolete_large intestine BTO:0000706 EMAPA:19252 EV:0100077 FMAID:7201 James Malone Large bowel[accessedResource: FMAID:7201][accessDate: 05-04-2011] MA:0000333 MAT:0000046 Organ with organ cavity which is continuous proximally with the small intestine and distally with the anal canal. Examples: There is only large intestine. SAEL:58 TGMA:0001020 The hindgut of adult mosquito consists of pyloric chamber, anterior intestine, rectum, anal canal and anus. The hindgut of adult mosquito consists of pyloric chamber, anterior intestine, rectum, anal canal and anus.[accessedResource: TGMA:0001020][accessDate: 05-04-2011] The more terminal division of the vertebrate intestine that is wider and shorter than the small intestine, typically divided into cecum, colon, and rectum, and concerned especially with the resorption of water and the formation of feces. The more terminal division of the vertebrate intestine that is wider and shorter than the small intestine, typically divided into cecum, colon, and rectum, and concerned especially with the resorption of water and the formation of feces.[accessedResource: BTO:0000706][accessDate: 05-04-2011] The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates. The posterior intestine has short longitudinally arranged epithelial folds which are similar to the colon of higher vertebrates.[accessedResource: ZFA:0000706][accessDate: 05-04-2011] XAO:0000131 ZFA:0000706 adult hindgut adult hindgut[accessedResource: TGMA:0001020][accessDate: 05-04-2011] hindgut hindgut[accessedResource: MAT:0000046][accessDate: 05-04-2011] intestinum crassum large bowel posterior intestine posterior intestine[accessedResource: ZFA:0000706][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000059 label: large intestine 2.38 true obsolete_small intestine BTO:0000651 EV:0100072 FMAID:14544 James Malone Jon Ison MA:0000337 MAT:0000047 Rectum[accessedResource: FMAID:14544][accessDate: 05-04-2011] SAEL:96 TGMA:0001024 The anterior intestine is a rather narrow looped tube of the adult hindgut. The anterior intestine is a rather narrow looped tube of the adult hindgut.[accessedResource: TGMA:0001024][accessDate: 05-04-2011] The part of the intestine that lies between the stomach and colon, consists of duodenum, jejunum, and ileum, secretes digestive enzymes, and is the chief site of the absorption of digested nutrients. The proximal portion of the intestine. The part of the intestine that lies between the stomach and colon, consists of duodenum, jejunum, and ileum, secretes digestive enzymes, and is the chief site of the absorption of digested nutrients. The proximal portion of the intestine.[accessedResource: BTO:0000651][accessDate: 05-04-2011] The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity. The terminal region of the mid intestine is comprised of specialized enterocytes that appear to play a role in mucosal immunity.[accessedResource: ZFA:0001323][accessDate: 05-04-2011] XAO:0000130 ZFA:0001323 adult anterior intestine adult anterior intestine[accessedResource: TGMA:0001024][accessDate: 05-04-2011] anterior intestine anterior intestine[accessedResource: MAT:0000047][accessDate: 05-04-2011] intestinum tenue mid intestine[accessedResource: ZFA:0001323][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002108 label: small intestine true obsolete_ascending colon 2.38 BTO:0000270 EV:0100450 FMAID:14545 James Malone MAT:0000311 Organ part which is continuous with the cecum proximally and the transverse colon distally. The portion of the colon between the cecum and the right colic flexure. The portion of the colon between the cecum and the right colic flexure.[accessedResource: BTO:0000270][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001156 label: ascending colon colon ascendens colon ascendens[accessedResource: BTO:0000270][accessDate: 05-04-2011] true obsolete_transverse colon BTO:0000272 FMAID:14546 James Malone MAT:0000312 The portion of the colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure. The portion of the colon that runs transversely across the upper part of the abdomen, from the right to the left colic flexure.[accessedResource: BTO:0000272][accessDate: 05-04-2011] colon transversum colon transversum[accessedResource: BTO:0000272][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001157 label: transverse colon 2.38 obsolete_descending colon BTO:0000641 FMAID:14547 James Malone MAT:0000313 The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon. The portion of the colon between the left colic flexure and the sigmoid colon at the pelvic brim; the portion of the descending colon lying in the left iliac fossa is sometimes called the iliac colon.[accessedResource: BTO:0000641][accessDate: 05-04-2011] colon descendens colon descendens[accessedResource: BTO:0000641][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001158 label: descending colon obsolete_sigmoid colon BTO:0000645 FMAID:14548 James Malone MAT:0000314 The S-shaped part of the colon which lies in the pelvis, extending from the pelvic brim to the third segment of the sacrum, and continuous above with the descending (or iliac) colon and below with the rectum. The S-shaped part of the colon which lies in the pelvis, extending from the pelvic brim to the third segment of the sacrum, and continuous above with the descending (or iliac) colon and below with the rectum.[accessedResource: BTO:0000645][accessDate: 05-04-2011] colon sigmoideum colon sigmoideum[accessedResource: BTO:0000645][accessDate: 05-04-2011] pelvic colon sigmoid flexure http://purl.obolibrary.org/obo/UBERON_0001159 label: sigmoid colon 2.38 true obsolete_anal region 2.38 Anal canal viewed anatomically Anal canal viewed anatomically[accessedResource: FMAID:15703][accessDate: 05-04-2011] Anal canal[accessedResource: FMAID:15703][accessDate: 05-04-2011] Anatomical anal canal Anatomical anal canal[accessedResource: FMAID:15703][accessDate: 05-04-2011] EMAPA:16831 EV:0100082 FBbt:00005785 FMAID:15703 James Malone MA:0000328 MAT:0000042 Organ with organ cavity which is continuous proximally with the rectum and distally terminates with the anus. Examples: There is only one anal canal. SAEL:5 TGMA:0001279 The anus is situated in a small area of membrane between the bases of the cerci. The anus is situated in a small area of membrane between the bases of the cerci.[accessedResource: TGMA:0001279][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001353 label: anal region WBbt:0005774 XAO:0000244 ZFA:0000330 anal canal anal pad anal pad[accessedResource: FBbt:00005785][accessDate: 05-04-2011] anus anus[accessedResource: TGMA:0001279][accessDate: 05-04-2011] cloaca cloacal chamber cloacal chamber[accessedResource: ZFA:0000330][accessDate: 05-04-2011] true obsolete_rectum BTO:0001158 EHDAA:EHDAA\:5836 EMAPA:17896 EV:0100081 FBbt:00005756 FMAID:14544 James Malone MA:0000336 MAT:0000050 Posterior-most portion of the alimentary canal, terminating in the anus. Posterior-most portion of the alimentary canal, terminating in the anus.[accessedResource: FBbt:00005756][accessDate: 05-04-2011] SAEL:88 TADS:0000166 TGMA:0001028 The bladder-like rectum is bounded by a layer of circular muscle fibres and by sparser longitudinal fibres. The bladder-like rectum is bounded by a layer of circular muscle fibres and by sparser longitudinal fibres.[accessedResource: TGMA:0001028][accessDate: 05-04-2011] The terminal part of the intestine from the sigmoid flexure to the anus. The terminal part of the intestine from the sigmoid flexure to the anus.[accessedResource: BTO:0001158][accessDate: 05-04-2011] WBbt:0005773 XAO:0000238 adult rectum adult rectum[accessedResource: TGMA:0001028][accessDate: 05-04-2011] intestinum rectum rectal sac rectal sac[accessedResource: MAT:0000050][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001052 label: rectum 2.38 true appendix A narrow blind tube usually about three or four inches (7.6 to 10.2 centimeters) long that extends from the cecum in the lower right-hand part of the abdomen, has much lymphoid wall tissue, normally communicates with the cavity of the cecum, and represents an atrophied terminal part of the cecum. A narrow blind tube usually about three or four inches (7.6 to 10.2 centimeters) long that extends from the cecum in the lower right-hand part of the abdomen, has much lymphoid wall tissue, normally communicates with the cavity of the cecum, and represents an atrophied terminal part of the cecum.[accessedResource: BTO:0000084][accessDate: 05-04-2011] BTO:0000084 EV:0100080 FMAID:14542 James Malone MA:00001540 MAT:0000287 Organ with organ cavity which is continuous proximally with the cecum and distally terminates in the tip of the appendix. Examples: There is only one appendix. SAEL:7 vermiform appendix vermiform appendix[accessedResource: BTO:0000084][accessDate: 05-04-2011] obsolete_caecum BTO:0000166 Cecum[accessedResource: FMAID:14541][accessDate: 05-04-2011] EHDAA:3913 EV:0100397 FMAID:14541 Intestinum crassum caecum Intestinum crassum caecum[accessedResource: FMAID:14541][accessDate: 05-04-2011] James Malone MA:00000334 MAT:0000288 SAEL:15 The first part of the large intestine, forming a dilated pouch into which open the ileum, colon, and appendix vermiformis. The first part of the large intestine, forming a dilated pouch into which open the ileum, colon, and appendix vermiformis.[accessedResource: BTO:0000166][accessDate: 05-04-2011] blind intestine blindgut cecum intestinum caecum intestinum crassum cecum Use http://purl.obolibrary.org/obo/UBERON_0001153 label: caecum 2.38 true obsolete_duodenum BTO:0000365 EHDAA:3830 EMAPA:18852 EV:0100073 FMAID:7206 James Malone MA:0000338 MAT:0000044 SAEL:31 The first part of the small intestine extending from the pylorus to the jejunum. The first part of the small intestine extending from the pylorus to the jejunum.[accessedResource: BTO:0000365][accessDate: 05-04-2011] XAO:0000236 anterior intestine proximal intestine upper intestine true Use http://purl.obolibrary.org/obo/UBERON_0002114 label: duodenum 2.38 obsolete_adrenal medulla 2.38 BTO:0000049 EMAPA:18428 EV:0100135 FMAID:15633 James Malone MA:0000119 MAT:0000495 Medulla (Glandula suprarenalis) Medulla (Glandula suprarenalis)[accessedResource: FMAID:15633][accessDate: 05-04-2011] Medulla of adrenal gland Medulla of adrenal gland[accessedResource: FMAID:15633][accessDate: 05-04-2011] Medulla of suprarenal gland[accessedResource: FMAID:15633][accessDate: 05-04-2011] Suprarenal medulla Suprarenal medulla[accessedResource: FMAID:15633][accessDate: 05-04-2011] The inner, reddish-brown portion of the adrenal glands that synthesizes, stores, and releases epinephrine and norepinephrine. The inner, reddish-brown portion of the adrenal glands that synthesizes, stores, and releases epinephrine and norepinephrine.[accessedResource: BTO:0000049][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001236 label: adrenal medulla XAO:0000166 medulla of glandula suprarenalis medulla of suprarenal gland true obsolete_gall bladder A small, pear-shaped muscular sac, located under the right lobe of the liver, in which bile secreted by the liver is stored until needed by the body for digestion. A small, pear-shaped muscular sac, located under the right lobe of the liver, in which bile secreted by the liver is stored until needed by the body for digestion.[accessedResource: BTO:0000493][accessDate: 05-04-2011] BTO:0000493 EHDAA:8062 EMAPA:17202 EV:0100090 FMAID:7202 Gallbladder Gallbladder[accessedResource: FMAID:7202][accessDate: 05-04-2011] James Malone MA:000356 MAT:0000072 MFO:0003020 Organ with organ cavity which is continuous proximally with the cystic duct and distally terminates in the fundus of the gallbladder. Examples: There is only one gallbladder. SAEL:44 TAO:0000208 XAO:0000135 ZFA:0000208 true Use http://purl.obolibrary.org/obo/UBERON_0002110 label: gallbladder 2.38 obsolete_mammary gland BTO:0000817 Brustdruese EHDAA:6522 EMAPA:17759 EV:0100125 FMAID:62088 James Malone Lactiferous gland Lactiferous gland[accessedResource: FMAID:62088][accessDate: 05-04-2011] Lobe of breast Lobe of breast[accessedResource: FMAID:62088][accessDate: 05-04-2011] Lobe of mammary gland Lobe of mammary gland[accessedResource: FMAID:62088][accessDate: 05-04-2011] Lobular organ which consist of a lactiferous duct tree and the set of lactiferous acini that are connected to duct tree. Examples: There are variable numbers of lactiferous duct trees. MA:0000145 MAT:0000073 SAEL:64 The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland. The specialized accessory gland of the skin of female mammals that secretes milk. In the human female, it is a compound tubuloalveolar gland composed of 15 to 25 lobes arranged radially about the nipple and separated by connective and adipose tissue, each lobe having its own excretory (lactiferous) duct opening on the nipple. The lobes are subdivided into lobules, with the alveolar ducts and alveoli being the secretory portion of the gland.[accessedResource: BTO:0000817][accessDate: 05-04-2011] glandula mammaria mamma 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001911 label: mammary gland breast obsolete_pancreas A large lobulated gland of vertebrates that secretes digestive enzymes and the hormones insulin and glucagon. A large lobulated gland of vertebrates that secretes digestive enzymes and the hormones insulin and glucagon.[accessedResource: BTO:0000988][accessDate: 05-04-2011] BTO:0000988 EHDAA:6893 EMAPA:18816 EV:0100092 FMAID:7198 James Malone Lobular organ the parenchyma of which consists of glandular acini which communicate via a duct system with the duodenum. Examples: There is only one pancreas. MA:0001582 MA:0002415 MAT:0000075 SAEL:80 TAO:0000140 XAO:0000136 ZFA:0000140 Use http://purl.obolibrary.org/obo/UBERON_0001264 label: pancreas true 2.38 obsolete_islet of Langerhans BTO:0000991 Irregular microscopic structures scattered throughout the pancreas and comprising its endocrine part (the endocrine pancreas). In humans, they are composed of at least four types of cells: the alpha cells, which secrete glucagon; the beta cells, which are the most abundant and secrete insulin; the delta cells, which secrete somatostatin; and the PP cells, which secrete pancreatic polypeptide. Degeneration of the beta cells, whose secretion (insulin) is important in carbohydrate metabolism, is the major cause of type I diabetes mellitus. Irregular microscopic structures scattered throughout the pancreas and comprising its endocrine part (the endocrine pancreas). In humans, they are composed of at least four types of cells: the alpha cells, which secrete glucagon; the beta cells, which are the most abundant and secrete insulin; the delta cells, which secrete somatostatin; and the PP cells, which secrete pancreatic polypeptide. Degeneration of the beta cells, whose secretion (insulin) is important in carbohydrate metabolism, is the major cause of type I diabetes mellitus.[accessedResource: BTO:0000991][accessDate: 05-04-2011] James Malone island of Langerhans island of pancreas pancreatic islet pancreatic islet[accessedResource: BTO:0000991][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000006 label: islet of Langerhans true obsolete_pituitary A compound organ which is an endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin. A compound organ which is an endocrine gland located ventral to the diencephalon and derived from mixed neuroectodermal and non neuroectodermal origin.[accessedResource: ZFA:0000118][accessDate: 05-04-2011] A small oval endocrine organ that is attached to the infundibulum of the brain, consists of an epithelial anterior lobe joined by an intermediate part to a posterior lobe of nervous origin, and produces various internal secretions directly or indirectly impinging on most basic body functions. A small oval endocrine organ that is attached to the infundibulum of the brain, consists of an epithelial anterior lobe joined by an intermediate part to a posterior lobe of nervous origin, and produces various internal secretions directly or indirectly impinging on most basic body functions.[accessedResource: BTO:0001073][accessDate: 05-04-2011] BTO:0001073 EHDAA:2183 EMAPA:16724 EV:0100132 FMAID:13889 Hypophysis cerebri Hypophysis cerebri[accessedResource: FMAID:13889][accessDate: 05-04-2011] James Malone MA:0000127 MAT:0000077 Pituitary gland Pituitary gland[accessedResource: FMAID:13889][accessDate: 05-04-2011] SAEL:83 XAO:0000161 ZFA:0000118 glandula pituitaria hypophysis hypophysis[accessedResource: BTO:0001073][accessDate: 05-04-2011] pituitary body Use http://purl.obolibrary.org/obo/UBERON_0000007 label: pituitary gland 2.38 true obsolete_prostate A firm partly muscular partly glandular body that is situated about the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid. A firm partly muscular partly glandular body that is situated about the base of the mammalian male urethra and secretes an alkaline viscid fluid which is a major constituent of the ejaculatory fluid.[accessedResource: BTO:0001129][accessDate: 05-04-2011] BTO:0001129 EMAPA:19287 EV:0100104 FMAID:9600 James Malone Lobular organ the parenchyma of which has as its parts glandular acini which are continuous with the prostatic part of the urethra. Examples: There is only one prostate. MA:0000404 MAT:0000078 SAEL:87 prostate gland prostate gland[accessedResource: BTO:0001129][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002367 label: prostate gland true 2.38 obsolete_salivary gland A pair of salivary glands is present in the thorax, just above the forelegs and flanking the oesophagus. In both sexes of most species each gland normally consists of three lobes, two lateral and one median. A pair of salivary glands is present in the thorax, just above the forelegs and flanking the oesophagus. In both sexes of most species each gland normally consists of three lobes, two lateral and one median.[accessedResource: TGMA:0001804][accessDate: 05-04-2011] BTO:0001203 EHDAA:7987 EMAPA:17751 FBbt:00005382 FMAID:9597 James Malone Lobular organ the parenchyma of which consists of glandular acini which communicate the oral cavity. Examples: parotid gland, sublingual gland, lingual salivary gland. MA:0000346 MAT:0000079 Paired secretory organ connected to the atrium via the salivary duct. It is essentially composed of two cell types: cuboidal epithelial duct cells that form tubes connecting the secretory cells to the larval mouth; and secretory cells that synthesize and secrete high levels of protein (Andrew et al., 2000). Paired secretory organ connected to the atrium via the salivary duct. It is essentially composed of two cell types: cuboidal epithelial duct cells that form tubes connecting the secretory cells to the larval mouth; and secretory cells that synthesize and secrete high levels of protein (Andrew et al., 2000).[accessedResource: FBbt:00005382][accessDate: 05-04-2011] SAEL:92 TADS:0000119 TGMA:0001804 The glands of the oral cavity whose combined secretion constitutes the saliva. The glands of the oral cavity whose combined secretion constitutes the saliva.[accessedResource: BTO:0001203][accessDate: 05-04-2011] adult salivary gland adult salivary gland[accessedResource: TGMA:0001804][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001044 label: salivary gland 2.38 true obsolete_thymus A glandular structure of largely lymphoid tissue that functions especially in the development of the body's immune system, is present in the young of most vertebrates typically in the upper anterior chest or at the base of the neck, and tends to atrophy in the adult. A glandular structure of largely lymphoid tissue that functions especially in the development of the body's immune system, is present in the young of most vertebrates typically in the upper anterior chest or at the base of the neck, and tends to atrophy in the adult.[accessedResource: BTO:0001374][accessDate: 05-04-2011] BTO:0001374 EHDAA:9119 EMAPA:18768 EV:0100138 FMAID:9607 James Malone MA:0000142 MAT:0000080 MFO:0003240 SAEL:107 TAO:0001078 Thymus gland Thymus gland[accessedResource: FMAID:9607][accessDate: 05-04-2011] XAO:0000163 ZFA:0001078 true Use http://purl.obolibrary.org/obo/UBERON_0002370 label: thymus 2.38 obsolete_thyroid A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin. A two-lobed endocrine gland found in all vertebrates, located in front of and on either side of the trachea in humans, and producing various hormones, such as triiodothyronine and calcitonin.[accessedResource: BTO:0001379][accessDate: 05-04-2011] BTO:0001379 EHDAA:2975 EMAPA:18827 EV:0100133 FMAID:9603 James Malone Lobular organ the parenchyma of which consists of ductless, glandular follicles filled with colloid. Examples: thyroid gland proper, accessory thyroid gland, lingual thyroid gland. MA:0000129 MAT:0000081 Portion of tissue formed form thyroid follicle cells that forms along the midline in pharyngeal mesenchyme. The follicles are not encapsulated by connective tissue. Portion of tissue formed form thyroid follicle cells that forms along the midline in pharyngeal mesenchyme. The follicles are not encapsulated by connective tissue.[accessedResource: ZFA:0001072][accessDate: 05-04-2011] SAEL:108 TAO:0001081 Thyroid gland[accessedResource: FMAID:9603][accessDate: 05-04-2011] XAO:0000162 ZFA:0001072 thyroid follicle thyroid follicle[accessedResource: ZFA:0001072][accessDate: 05-04-2011] thyroid follicles thyroid follicles[accessedResource: ZFA:0001072][accessDate: 05-04-2011] thyroid gland thyroid primordium thyroid primordium[accessedResource: TAO:0001081][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002046 label: thyroid gland true 2.38 obsolete_hatching gland A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995. A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland. Kimmel et al, 1995.[accessedResource: TAO:0000026][accessDate: 05-04-2011] A transversely oriented set of cells located deep to the EVL on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland.[accessedResource: ZFA:0000026][accessDate: 05-04-2011] A transversely oriented set of cells located deep to the enveloping layer on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland; The fish hatching gland is a unicellular holocrine gland. Although it has recently been found that the precursors or immature forms of the gland cells considerably migrate in the embryonic body during development (see later), the final location of the hatching gland cells in fish is generally restricted to anterior and/or dorsal regions of a well-grown prehatching embryo. In medaka, the final location is somewhat unique: The giant gland cells are mostly localized in the inner surface of the buccal (or pharyngeal) cavity. A transversely oriented set of cells located deep to the enveloping layer on the pericardial membrane, especially prominent during pharyngula period because of the brightly refractile cytoplasmic granules (containing hatching enzymes) of the principal cells of the gland; The fish hatching gland is a unicellular holocrine gland. Although it has recently been found that the precursors or immature forms of the gland cells considerably migrate in the embryonic body during development (see later), the final location of the hatching gland cells in fish is generally restricted to anterior and/or dorsal regions of a well-grown prehatching embryo. In medaka, the final location is somewhat unique: The giant gland cells are mostly localized in the inner surface of the buccal (or pharyngeal) cavity.[accessedResource: BTO:0000558][accessDate: 05-04-2011] BTO:0000558 James Malone MAT:0000180 TAO:0000026 ZFA:0000026 hgg hgg[accessedResource: TAO:0000026][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002538 label: hatching gland obsolete_neurohemal organ A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system. A system of neurons that has the specialized function to produce and secrete hormones, and that constitutes, in whole or in part, an endocrine organ or system.[accessedResource: BTO:0002106][accessDate: 05-04-2011] BTO:0002106 James Malone TADS:0000245 Use http://purl.obolibrary.org/obo/UBERON_0001053 label: neurohemal organ true 2.38 obsolete_pineal gland A small, cone-shaped organ in the brain of most vertebrates that secretes the hormone melatonin. A small, cone-shaped organ in the brain of most vertebrates that secretes the hormone melatonin.[accessedResource: BTO:0001067][accessDate: 05-04-2011] BTO:0001067 Circumventricular organ of neuraxis which is shaped like a pine cone and attached on the midline near the posterior and habenular commissures of the epithalamus. EV:0100131 FMAID:62033 James Malone MA:0000175 MAT:0000448 MFO:0079940 Pineal body[accessedResource: FMAID:62033][accessDate: 05-04-2011] XAO:0000160 epiphysis cerebri pineal body pineal organ Use http://purl.obolibrary.org/obo/UBERON_0001905 label:pineal body 2.38 true meninges Any of the three membranes that envelop the brain and spinal cord. Any of the three membranes that envelop the brain and spinal cord.[accessedResource: BTO:0000144][accessDate: 05-04-2011] BTO:0000144 EHDAA:3688 EMAPA:17764 EV:0100312 FMAID:9589 James Malone MA:0000113 MAT:0000113 SAEL:66 meninx meninx[accessedResource: BTO:0000144][accessDate: 05-04-2011] obsolete_bone marrow BTO:0000141 EV:0100046 FMAID:9608 James Malone MA:0000134 MAT:0000084 Medulla ossea[accessedResource: FMAID:9608][accessDate: 05-04-2011] SAEL:11 The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells. The soft, fatty, vascular tissue that fills most bone cavities and is the source of red blood cells and many white blood cells.[accessedResource: BTO:0000141][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000123 kidney marrow kidney marrow[accessedResource: TAO:0000669][accessDate: 05-04-2011] medulla of bone medulla ossea medulla ossium 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002371 label: bone marrow true obsolete_spleen A highly vascular ductless organ that is located in the left abdominal region near the stomach or intestine of most vertebrates and is concerned with final destruction of red blood cells, filtration and storage of blood, and production of lymphocytes. A highly vascular ductless organ that is located in the left abdominal region near the stomach or intestine of most vertebrates and is concerned with final destruction of red blood cells, filtration and storage of blood, and production of lymphocytes.[accessedResource: BTO:0001281][accessDate: 05-04-2011] BTO:0001281 EMAPA:18767 EV:0100055 FMAID:7196 James Malone MA:0000141 MAT:0000085 MFO:0003100 SAEL:101 TAO:0000436 XAO:0000328 ZFA:0000436 true Use http://purl.obolibrary.org/obo/UBERON_0002106 label: spleen 2.38 lymphatic system EHDAA:8677 EMAPA:18248 FMAID:5034 James Malone Lymph node Lymph node[accessedResource: FMAID:5034][accessDate: 05-04-2011] MA:0000139 SAEL:63 obsolete_lymph A clear, watery, sometimes faintly yellowish fluid derived from body tissues that contains white blood cells and circulates throughout the lymphatic system, returning to the venous bloodstream through the thoracic duct. Lymph acts to remove bacteria and certain proteins from the tissues, transport fat from the small intestine, and supply mature lymphocytes to the blood. A clear, watery, sometimes faintly yellowish fluid derived from body tissues that contains white blood cells and circulates throughout the lymphatic system, returning to the venous bloodstream through the thoracic duct. Lymph acts to remove bacteria and certain proteins from the tissues, transport fat from the small intestine, and supply mature lymphocytes to the blood.[accessedResource: BTO:0000855][accessDate: 05-04-2011] BTO:0000855 EV:0100049 FMAID:9671 James Malone MA:0002520 MAT:0000055 Transudate contained in the lumen of lymphatic vessel. 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002391 label: lymph true obsolete_lymph node Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph. Any of the rounded masses of lymphoid tissue that are surrounded by a capsule of connective tissue, are distributed along the lymphatic vessels, and contain numerous lymphocytes which filter the flow of lymph.[accessedResource: BTO:0000784][accessDate: 05-04-2011] BTO:0000784 EV:0100050 FMAID:5034 James Malone Lymph Nodes Lymph Nodes[accessedResource: MSH:D008198][accessDate: 05-04-2011] MA:00000139 MAT:0000442 MSH:D008198 Node, Lymph Node, Lymph[accessedResource: MSH:D008198][accessDate: 05-04-2011] Nodes, Lymph Nodes, Lymph[accessedResource: MSH:D008198][accessDate: 05-04-2011] They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system. They are oval or bean shaped bodies (1 - 30 mm in diameter) located along the lymphatic system.[accessedResource: MSH:D008198][accessDate: 05-04-2011] Tomasz Adamusiak lymph gland 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000029 label: lymph node obsolete_lymph vessel A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep. A network of blunt ended vessels lacking direct connection to the blood vascular system. These vessels collect and drain fluids and macromolecules from interstitial spaces throughout the animal. They derive from a subpopulation of endothelial cells and have walls that are much thinner than the blood carrying vessels. Lymphatic vessels are usually classified as either superficial or deep.[accessedResource: TAO:0005105][accessDate: 05-04-2011] A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure. A vessel that contains or conveys lymph, that originates as an interfibrillar or intercellular cleft or space in a tissue or organ, and that if small has no distinct walls or walls composed only of endothelial cells and if large resembles a vein in structure.[accessedResource: BTO:0000752][accessDate: 05-04-2011] BTO:0000752 FMAID:30315 James Malone Lymphatic vessel[accessedResource: FMAID:30315][accessDate: 05-04-2011] MA:0000138 MAT:0000443 Segment of lymphatic tree organ, the wall and lumen of which are continuous with those of the veins, directly or indirectly; together with other lymphatic vessels and lymph nodes, it constitutes the lymphatic tree organ. Examples: bronchomediastinal lymph duct, thoracic duct. TAO:0005105 XAO:0000375 lymphatic vessel Use http://purl.obolibrary.org/obo/UBERON_0001473 label: lymphatic vessel true 2.38 obsolete_antenna 2.38 BTO:0000074 FBbt:00004511 James Malone MAT:0000086 One of a pair of slender movable segmented sensory organs on the head of insects, myriapods, and crustaceans. One of a pair of slender movable segmented sensory organs on the head of insects, myriapods, and crustaceans.[accessedResource: BTO:0000074][accessDate: 05-04-2011] One of the paired anterior appendicular organs of the insect head. One of the paired anterior appendicular organs of the insect head.[accessedResource: TGMA:0000007][accessDate: 05-04-2011] Paired, segmented, jointed, sensory appendage attached to the anterior of the head capsule, between the eyes. Paired, segmented, jointed, sensory appendage attached to the anterior of the head capsule, between the eyes.[accessedResource: FBbt:00004511][accessDate: 05-04-2011] TGMA:0000007 Use http://purl.obolibrary.org/obo/UBERON_0000972 label: antenna adult antenna adult antenna[accessedResource: TGMA:0000007][accessDate: 05-04-2011] feeler true fin James Malone MAT:0000087 MFO:0079180 OntologyMappingImporter following MAT:0000087 Surface structure involved in locomotion. Surface structure involved in locomotion.[accessedResource: TAO:0000108][accessDate: 05-04-2011] TAO:0000108 XAO:0000002 ZFA:0000108 fins fins[accessedResource: ZFA:0000108][accessDate: 05-04-2011] obsolete_vertebrate limb 2.38 Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with a complete set of bones of the appendicular skeleton, it is partially surrounded by skin of limb. Examples: There are only four instances, right upper and lower limbs and left upper and lower limbs. EHDAA:1697 EMAPA:16405 EV:0100483 Extremity Extremity[accessedResource: FMAID:7182][accessDate: 05-04-2011] FMAID:7182 James Malone Limb[accessedResource: FMAID:7182][accessDate: 05-04-2011] MA:0000007 MAT:0000090 Use http://purl.obolibrary.org/obo/UBERON_0002101 label: limb XAO:0003027 limb limb sensu vertebrata limb sensu vertebrata[accessedResource: MAT:0000090][accessDate: 05-04-2011] true vertebrata limb autopod EV:0100452 Hand[accessedResource: NIFSTD:nlx_anat_20090603][accessDate: 05-04-2011] James Malone MA:0002714 MAT:0000091 NIFSTD:nlx_anat_20090603 SAEL:41 SAEL:45 The generic name for hand, paw, foot etc The generic name for hand, paw, foot etc[accessedResource: MAT:0000091][accessDate: 05-04-2011] Tomasz Adamusiak foot hand paw obsolete_zeugopod 2.38 James Malone MA:0002716 MAT:0000092 The middle part of the limb (e.g. between the elbow and wrist) The middle part of the limb (e.g. between the elbow and wrist)[accessedResource: MAT:0000092][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002471 Label: zeugopod middle part of limb true obsolete_stylopod 2.38 James Malone MA:0002717 MAT:0000093 The proximal part of the limb (e.g. between shoulder and elbow) The proximal part of the limb (e.g. between shoulder and elbow)[accessedResource: MAT:0000093][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002472 label: stylopod proximal part of limb true obsolete_digit 2.38 James Malone MAT:0000285 SAEL:29 Use http://purl.obolibrary.org/obo/UBERON_0002544 label: digit XAO:0003035 XAO:0003036 forelimb digit forelimb digit[accessedResource: MAT:0000285][accessDate: 05-04-2011] hindlimb digit hindlimb digit[accessedResource: MAT:0000285][accessDate: 05-04-2011] true obsolete_forelimb 2.38 A limb as an arm, wing, fin, or leg that is situated anteriorly. A limb as an arm, wing, fin, or leg that is situated anteriorly.[accessedResource: BTO:0001729][accessDate: 05-04-2011] BTO:0001729 EHDAA:6208 EMAPA:17412 EV:0100014 FMAID:7183 Fore limb Fore limb[accessedResource: FMAID:7183][accessDate: 05-04-2011] James Malone MA:0000025 MAT:0000394 SAEL:42 Superior member Superior member[accessedResource: FMAID:7183][accessDate: 05-04-2011] Upper extremity Upper extremity[accessedResource: FMAID:7183][accessDate: 05-04-2011] Upper limb[accessedResource: FMAID:7183][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002102 label: forelimb XAO:0003030 true upper limb anterior limb obsolete_hindlimb 2.38 BTO:0002345 EHDAA:6094 EMAPA:17458 EV:0100015 Either of two extremities of four-footed non-primate land animals. It usually consists of a femur, tibia and fibula, tarsals, metatarsals, and toes. Either of two extremities of four-footed non-primate land animals. It usually consists of a femur, tibia and fibula, tarsals, metatarsals, and toes.[accessedResource: BTO:0002345][accessDate: 05-04-2011] FMAID:7184 Hind limb Hind limb[accessedResource: FMAID:7184][accessDate: 05-04-2011] Inferior member[accessedResource: FMAID:7184][accessDate: 05-04-2011] James Malone Lower extremity Lower extremity[accessedResource: FMAID:7184][accessDate: 05-04-2011] MA:0000026 MAT:0000395 SAEL:49 Use http://purl.obolibrary.org/obo/UBERON_0002103 label: hindlimb XAO:0003031 inferior member lower limb lower limb[accessedResource: MAT:0000395][accessDate: 05-04-2011] true invertebrate limb FBbt:00004640 In animals, one of the paired appendages ordinarily used in locomotion and support. In insects, applied only to the three pairs of thoracic legs; in most insects, composed of the coxa, trochanter, femur, tibia, tarsus and posttarsus. In animals, one of the paired appendages ordinarily used in locomotion and support. In insects, applied only to the three pairs of thoracic legs; in most insects, composed of the coxa, trochanter, femur, tibia, tarsus and posttarsus.[accessedResource: TGMA:0000164][accessDate: 05-04-2011] James Malone MAT:0000095 TADS:0000002 TGMA:0000164 The walking appendages of each segment of the ventral adult external thorax. The walking appendages of each segment of the ventral adult external thorax.[accessedResource: FBbt:00004640][accessDate: 05-04-2011] adult leg adult leg[accessedResource: TGMA:0000164][accessDate: 05-04-2011] invertebrata limb leg leg[accessedResource: FBbt:00004640][accessDate: 05-04-2011] limb sensu invertebrata limb sensu invertebrata[accessedResource: MAT:0000095][accessDate: 05-04-2011] obsolete_wing 1: One of the movable feathered or membranous paired appendages by means of which a bird, bat, or insect is able to fly; also: such an appendage even though rudimentary if possessed by an animal belonging to a group characterized by the power of flight.n2: Any of various anatomical structures especially of a flying fish or flying lemur providing means of limited flight. 1: One of the movable feathered or membranous paired appendages by means of which a bird, bat, or insect is able to fly; also: such an appendage even though rudimentary if possessed by an animal belonging to a group characterized by the power of flight.n2: Any of various anatomical structures especially of a flying fish or flying lemur providing means of limited flight.[accessedResource: BTO:0001463][accessDate: 05-04-2011] 2.38 A flight organ of the adult external thorax that is derived from a dorsal mesothoracic disc. A flight organ of the adult external thorax that is derived from a dorsal mesothoracic disc.[accessedResource: FBbt:00004729][accessDate: 05-04-2011] BTO:0001463 FBbt:00004729 In adult pterygotous insects, one of the paired organs of flight occurring on the mesothoracic segment. In adult pterygotous insects, one of the paired organs of flight occurring on the mesothoracic segment.[accessedResource: TGMA:0000196][accessDate: 05-04-2011] In adult pterygotous insects, the paired organs of flight occurring on the metathoracic segment. In Diptera, the metathoracic wings are represented by the halteres. In adult pterygotous insects, the paired organs of flight occurring on the metathoracic segment. In Diptera, the metathoracic wings are represented by the halteres.[accessedResource: TGMA:0000197][accessDate: 05-04-2011] James Malone MAT:0000202 TGMA:0000196 TGMA:0000197 Use http://purl.obolibrary.org/obo/UBERON_0000023 label: wing adult mesothoracic wing adult mesothoracic wing[accessedResource: TGMA:0000196][accessDate: 05-04-2011] adult metathoracic wing adult metathoracic wing[accessedResource: TGMA:0000197][accessDate: 05-04-2011] true obsolete_haltere 2.38 FBbt:00004783 James Malone MAT:0000203 Paired dorsal 'appendage' of the adult mesothoracic segment. It is a freely movable, capitate stalk. It develops from the dorsal mesothoracic disc. It is used for flight balance. Paired dorsal 'appendage' of the adult mesothoracic segment. It is a freely movable, capitate stalk. It develops from the dorsal mesothoracic disc. It is used for flight balance.[accessedResource: FBbt:00004783][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000987 label: haltere balancer organ true obsolete_liver 1: A large very vascular glandular organ of vertebrates that secretes bile and causes important changes in many of the substances contained in the blood (as by converting sugars into glycogen which it stores up until required and by forming urea).n2: Any of various large compound glands associated with the digestive tract of invertebrate animals and probably concerned with the secretion of digestive enzymes. 1: A large very vascular glandular organ of vertebrates that secretes bile and causes important changes in many of the substances contained in the blood (as by converting sugars into glycogen which it stores up until required and by forming urea).n2: Any of various large compound glands associated with the digestive tract of invertebrate animals and probably concerned with the secretion of digestive enzymes.[accessedResource: BTO:0000759][accessDate: 05-04-2011] BTO:0000759 EHDAA:2197 EMAPA:16846 EV:0100089 FMAID:7197 James Malone Lobular organ which has as its parts lobules connected to the biliary tree. Examples: There is only one liver. MA:0000358 MAT:0000097 MFO:0003060 TAO:0000123 XAO:0000133 ZFA:0000123 true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver smooth muscle BTO:0001260 EV:0100378 FBbt:00003525 James Malone MAT:0000303 Muscle tissue that lacks cross striations, that is made up of elongated spindle-shaped cells having a central nucleus, and that is found in vertebrate visceral structures (as the stomach and bladder) as thin sheets performing functions not subject to conscious control by the mind and in all or most of the musculature of invertebrates other than arthropods. Muscle tissue that lacks cross striations, that is made up of elongated spindle-shaped cells having a central nucleus, and that is found in vertebrate visceral structures (as the stomach and bladder) as thin sheets performing functions not subject to conscious control by the mind and in all or most of the musculature of invertebrates other than arthropods.[accessedResource: BTO:0001260][accessDate: 05-04-2011] SAEL:97 Tomasz Adamusiak Visceral muscle of the adult. Visceral muscle of the adult.[accessedResource: FBbt:00003525][accessDate: 05-04-2011] XAO:0000175 adult visceral muscle adult visceral muscle[accessedResource: FBbt:00003525][accessDate: 05-04-2011] invertebrate ganglion Any of a number of aggregations of neurons, glial cells and their processes, and surrounded by a glial cell and connective tissue sheath (plural: ganglia). Any of a number of aggregations of neurons, glial cells and their processes, and surrounded by a glial cell and connective tissue sheath (plural: ganglia).[accessedResource: FBbt:00005137][accessDate: 05-04-2011] Any of a number of aggregations of neurons, glial cells and their processes, surrounded by a glial cell and connective tissue sheath (plural: ganglia). FBbt:00005137 James Malone MAT:0000207 ganglion[accessedResource: FBbt:00005137][accessDate: 05-04-2011] obsolete_peripheral nervous system AAO:0000429 BTO:0001028 EHDAA:2893 EMAPA:16665 FBbt:00005098 James Malone MAT:0000338 PNS TADS:0000221 The outer parts of the nervous system that perform sensory and motor functions. The outer parts of the nervous system that perform sensory and motor functions.[accessedResource: FBbt:00005098][accessDate: 05-04-2011] The peripheral nervous system (PNS) connects the central nervous system (CNS) to sensory organs (such as the eye and ear), other organs of the body, muscles, blood vessels and glands. The peripheral nervous system (PNS) connects the central nervous system (CNS) to sensory organs (such as the eye and ear), other organs of the body, muscles, blood vessels and glands.[accessedResource: BTO:0001028][accessDate: 05-04-2011] XAO:0000178 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000010 label: peripheral nervous system true obsolete_sympathetic nervous system BTO:0001832 EHDAA:3769 EMAPA:16985 EV:0100374 FMAID:9906 James Malone MA:0000225 MAT:0000100 Nervous structures including ganglia outside of the central nervous system. Nervous structures including ganglia outside of the central nervous system.[accessedResource: ZFA:0000142][accessDate: 05-04-2011] One of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord, and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera, and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter. One of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord, and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera, and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.[accessedResource: BTO:0001832][accessDate: 05-04-2011] PNS - sympathetic PNS - sympathetic[accessedResource: MAT:0000100][accessDate: 05-04-2011] Sympathetic part of autonomic division of nervous system[accessedResource: FMAID:9906][accessDate: 05-04-2011] TAO:0001576 XAO:0000211 ZFA:0000142 peripheral nervous system[accessedResource: ZFA:0000142][accessDate: 05-04-2011] pns[accessedResource: ZFA:0000142][accessDate: 05-04-2011] sympathetic chain sympathetic part of autonomic division of nervous system Use http://purl.obolibrary.org/obo/UBERON_0000013 label: sympathetic nervous system 2.38 true obsolete_parasympathetic nervous system BTO:0001833 EHDAA:4655 EMAPA:17270 FMAID:9907 James Malone MA:0000223 MAT:0000101 Nervous structures including ganglia outside of the central nervous system. Nervous structures including ganglia outside of the central nervous system.[accessedResource: ZFA:0000142][accessDate: 05-04-2011] One of the two divisions of the vertebrate autonomic nervous sytem. Parasympathetic nerves emerge cranially as pre-ganglionic fibres from oculomotor, facial, glossopharyngeal and vagus, and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic acetylcholine receptors. The parasympathetic system innervates, for example, salivary glands, thoracic and abdominal viscera, bladder and genitalia. One of the two divisions of the vertebrate autonomic nervous sytem. Parasympathetic nerves emerge cranially as pre-ganglionic fibres from oculomotor, facial, glossopharyngeal and vagus, and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic acetylcholine receptors. The parasympathetic system innervates, for example, salivary glands, thoracic and abdominal viscera, bladder and genitalia.[accessedResource: BTO:0001833][accessDate: 05-04-2011] PNS - parasympathetic PNS - parasympathetic[accessedResource: MAT:0000101][accessDate: 05-04-2011] Parasympathetic part of autonomic division of nervous system Parasympathetic part of autonomic division of nervous system[accessedResource: FMAID:9907][accessDate: 05-04-2011] TAO:0001575 ZFA:0000142 peripheral nervous system[accessedResource: ZFA:0000142][accessDate: 05-04-2011] pns[accessedResource: ZFA:0000142][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000011 label: parasympathetic nervous system obsolete_enteric nervous system BTO:0002506 FMAID:66070 James Malone MA:0000222 MAT:0000102 NIFSTD:birnlex_1166 PNS - enteric PNS - enteric[accessedResource: MAT:0000102][accessDate: 05-04-2011] TAO:0001155 Tomasz Adamusiak Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation. Two ganglionated neural plexuses in the gut wall which form one of the three major divisions of the autonomic nervous system. The enteric nervous system innervates the gastrointestinal tract, the pancreas, and the gallbladder. It contains sensory neurons, interneurons, and motor neurons. Thus the circuitry can autonomously sense the tension and the chemical environment in the gut and regulate blood vessel tone, motility, secretions, and fluid transport. The system is itself governed by the central nervous system and receives both parasympathetic and sympathetic innervation.[accessedResource: BTO:0002506][accessDate: 05-04-2011] ZFA:0001155 enteric PNS 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002005 label: enteric nervous system true obsolete_ventral nerve cord . BTO:0002328 FBbt:00001102 James Malone MAT:0000339 The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms). The pair of closely united ventral longitudinal nerves with their segmental ganglia that is characteristic of many elongate invertebrates (as earthworms).[accessedResource: BTO:0002328][accessDate: 05-04-2011] larval ventral ganglion larval ventral ganglion[accessedResource: FBbt:00001102][accessDate: 05-04-2011] subesophageal + T1 + T2 + T3 + A1 + A2 + A3 + A4 + A5 + A6 + A7 + A8 ganglia ventral cord vnc vnc[accessedResource: FBbt:00001102][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000934 label: ventral nerve cord true 2.38 pharyngeal nervous system James Malone MAT:0000341 WBbt:0005440 obsolete_somatic nervous system 1.8 Duplicate use EFO_0000892 James Malone MAT:0000342 OntologyMappingImporter following MAT:0000342 WBbt:0005760 true obsolete_ganglion A group of nerve cell bodies located outside the central nervous system. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia. A group of nerve cell bodies located outside the central nervous system. The term is occasionally applied to certain nuclear groups within the brain or spinal cord, such as the basal ganglia.[accessedResource: BTO:0000497][accessDate: 05-04-2011] BTO:0000497 EHDAA:918 EMAPA:16658 James Malone MAT:0000343 Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com) Structures containing a collection of nerve cell bodies. (Source: BioGlossary, www.Biology-Text.com)[accessedResource: TAO:0000190][accessDate: 05-04-2011] TAO:0000190 XAO:0000209 ganglia ganglia[accessedResource: TAO:0000190][accessDate: 05-04-2011] neural ganglion 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000045 label: ganglion true obsolete_dorsal root ganglion DRG DRG[accessedResource: NIFSTD:birnlex_2596][accessDate: 05-04-2011] EHDAA:2899 EMAPA:16668 EMAPA:18372 EVM:2000213 FMAID:5888 Ganglion spinalis Ganglion spinalis[accessedResource: FMAID:5888][accessDate: 05-04-2011] James Malone MA:0000232 MAT:0000162 NIFSTD:birnlex_2596 SAEL:30 Spinal ganglion[accessedResource: FMAID:5888][accessDate: 05-04-2011] TAO:0000200 Tomasz Adamusiak Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves. Trunk ganglion which is located adjacent to the spine on a dorsal root and contains the cell bodies of afferent sensory nerves.[accessedResource: TAO:0000200][accessDate: 05-04-2011] WBbt:0005189 ZFA:0000200 dorsal root ganglia dorsal root ganglia[accessedResource: ZFA:0000200][accessDate: 05-04-2011] spinal ganglion 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000044 label: dorsal root ganglion true body ganglion Ganglion which is located in the trunk. Ganglion which is located in the trunk.[accessedResource: TAO:0001573][accessDate: 05-04-2011] James Malone TAO:0001573 WBbt:0005332 trunk ganglion trunk ganglion[accessedResource: TAO:0001573][accessDate: 05-04-2011] obsolete_cranial ganglion BTO:0000106 James Malone cranial ganglia head ganglion Use http://purl.obolibrary.org/obo/UBERON_0001714 label: cranial ganglion true 2,38 obsolete_trigeminal ganglion A ganglion on the sensory root of the fifth cranial nerve, situated in a cleft within the dura mater (trigeminal cave) on the anterior surface of the petrous portion of the temporal bone, and giving off the ophthalmic and maxillary and part of the mandibular nerve; it contains the cells of origin of most of the sensory fibers of the trigeminal nerve. A ganglion on the sensory root of the fifth cranial nerve, situated in a cleft within the dura mater (trigeminal cave) on the anterior surface of the petrous portion of the temporal bone, and giving off the ophthalmic and maxillary and part of the mandibular nerve; it contains the cells of origin of most of the sensory fibers of the trigeminal nerve.[accessedResource: BTO:0001231][accessDate: 05-04-2011] A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995. A prominent collection of touch-sensory neurons of the trigeminal or fifth cranial nerve, positioned beside the brain between the eye and the ear. Kimmel et al, 1995.[accessedResource: TAO:0000295][accessDate: 05-04-2011] BTO:0001231 EV:0100491 FMAID:52618 Gasser's ganglion Gasserian ganglion[accessedResource: FMAID:52618][accessDate: 05-04-2011] James Malone MA:0001080 MAT:0000511 Semilunar ganglion Semilunar ganglion[accessedResource: FMAID:52618][accessDate: 05-04-2011] TAO:0000295 XAO:0000428 gV gV[accessedResource: TAO:0000295][accessDate: 05-04-2011] ganglion of trigeminal nerve ganglion trigeminale gasserian ganglion true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001675 label: trigeminal ganglion obsolete_basal ganglion Any of four deeply placed masses of gray matter (as the amygdala) in each cerebral hemisphere. Location: The basal ganglion is located deep within the cerebral hemispheres in the telencephalon region of the brain. It consists of the corpus stratium, subthalamic nucleus and the substantia nigra. Any of four deeply placed masses of gray matter (as the amygdala) in each cerebral hemisphere. Location: The basal ganglion is located deep within the cerebral hemispheres in the telencephalon region of the brain. It consists of the corpus stratium, subthalamic nucleus and the substantia nigra.[accessedResource: BTO:0000235][accessDate: 05-04-2011] BTO:0000235 Basal ganglia Basal ganglia set Basal ganglia set[accessedResource: FMAID:84013][accessDate: 05-04-2011] Basal ganglia[accessedResource: FMAID:84013][accessDate: 05-04-2011] FMAID:84013 James Malone MA:0000184 MAT:0000450 NIFSTD:birnlex_826 Set of basal ganglia Set of basal ganglia[accessedResource: FMAID:84013][accessDate: 05-04-2011] Set of basal nuclei Set of basal nuclei[accessedResource: FMAID:84013][accessDate: 05-04-2011] Subcortical masses of gray matter in the forebrain and midbrain that are richly interconnected and so viewed as a functional system. The nuclei usually included are the caudate nucleus (caudoputamen in rodents), putamen, globus pallidus, substantia nigra (pars compacta and pars reticulata) and the subthalamic nucleus. Some also include the nucleus accumbens and ventral pallidum. Tomasz Adamusiak basal nucleus\] basal nucleus\][accessedResource: MAT:0000450][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002420 label: basal ganglion true obsolete_globus pallidus BTO:0002246 EV:0100188 FMAID:61835 James Malone MA:0000890 MAT:0000510 NIFSTD:birnlex_1234 Nucleus of brain which is located medially to the putamen and laterally to the internal capsule. Pale Body Pale Body[accessedResource: NIFSTD:birnlex_1234][accessDate: 05-04-2011] Paleostriatum[accessedResource: FMAID:61835][accessDate: 05-04-2011] Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle. Subcortical nucleus, functionally part of the basal ganglia, which consists of two segments the external (or lateral) and internal (or medial) separated by the medial medullary lamina in primates. In rodents, The globus pallidus lateral is separated from the medial segment by the fibers of the internal capsule/cerebral peduncle.[accessedResource: NIFSTD:birnlex_1234][accessDate: 05-04-2011] The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon. The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon.nThe paleostriatum is the phylogenetically older part of the corpus striatum represented by the globus pallidus. The smaller and more medial part of the lentiform nucleus of the brain, separated from the putamen by the lateral medullary lamina. In official anatomic nomenclature, it is divided by the medial medullary lamina into two parts, lateral and medial, both of which have extensive connections with the corpus striatum, thalamus, and mesencephalon.nThe paleostriatum is the phylogenetically older part of the corpus striatum represented by the globus pallidus.[accessedResource: BTO:0002246][accessDate: 05-04-2011] Tomasz Adamusiak paleostriatum pallidum pallidum[accessedResource: NIFSTD:birnlex_1234][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001875 label: globus pallidus obsolete_accumbens nucleus A nucleus composed of neurons in the forebrain. A nucleus composed of neurons in the forebrain.[accessedResource: NCIt:C52733][accessDate: 05-04-2011] A nucleus forming the floor of the caudal part of the anterior prolongation of the lateral ventricle of the brain. A nucleus forming the floor of the caudal part of the anterior prolongation of the lateral ventricle of the brain.[accessedResource: BTO:0001862][accessDate: 05-04-2011] BTO:0001862 Colliculus of caudate nucleus[accessedResource: FMAID:61889][accessDate: 05-04-2011] FMAID:61889 James Malone MA:0000892 MAT:0000512 NCIt:C52733 Nucleus accumbens Nucleus accumbens septi[accessedResource: FMAID:61889][accessDate: 05-04-2011] colliculus of caudate nucleus nucleus accumbens septi nucleus accumbens whole nucleus accumbens[accessedResource: BTO:0001862][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001882 label: nucleus accumbens true 2.38 obsolete_caudate nucleus An elongated gray mass of the neostriatum located adjacent to the lateral ventricle of the brain. (MeSH) An elongated gray mass of the neostriatum located adjacent to the lateral ventricle of the brain. (MeSH)[accessedResource: NCIt:C12451][accessDate: 05-04-2011] BTO:0000211 Caudatus Caudatus[accessedResource: FMAID:61833][accessDate: 05-04-2011] EMAPA:18207 EV:0100185 FMAID:61833 James Malone MA:0000893 MAT:0000513 MSH:D002421 NCIt:C12451 NIFSTD:birnlex_1373 Nucleus Caudatus Nucleus Caudatus[accessedResource: NCIt:C12451][accessDate: 05-04-2011] Nucleus of brain which is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. One of the centrally-located portions of the brain affected by Huntington's Disease. Speech and swallowing problems arise when this region and another region called the putamen are affected. One of the centrally-located portions of the brain affected by Huntington's Disease. Speech and swallowing problems arise when this region and another region called the putamen are affected.[accessedResource: BTO:0000211][accessDate: 05-04-2011] Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species. Subcortical nucleus of telecephalic origin consisting of an elongated gray mass lying lateral to and bordering the lateral ventricle. It is divided into a head, body and tail in some species.[accessedResource: NIFSTD:birnlex_1373][accessDate: 05-04-2011] Tomasz Adamusiak true 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001873 label: caudate nucleus obsolete_central nervous system BTO:0000227 CNS Cerebrospinal axis[accessedResource: FMAID:55675][accessDate: 05-04-2011] EHDAA:828 EMAPA:16470 EV:0100163 FMAID:55675 James Malone MA:0000167 MAT:0000457 NIFSTD:birnlex_1099 Neuraxis Neuraxis[accessedResource: FMAID:55675][accessDate: 05-04-2011] Organ with organ cavity which consists of gray matter and white matter. Examples: There is only one neuraxis. TAO:0000012 The brain and spinal cord. The brain and spinal cord. Kimmel et al, 1995. The brain and spinal cord. Kimmel et al, 1995.[accessedResource: TAO:0000012][accessDate: 05-04-2011] The brain and spinal cord.[accessedResource: ZFA:0000012][accessDate: 05-04-2011] The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord. The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord.[accessedResource: BTO:0000227][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000012 cerebrospinal axis cns[accessedResource: TAO:0000012][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001017 label: central nervous system 2.38 true obsolete_forebrain BTO:0000478 EHDAA:3470 EMAPA:16895 FMAID:61992 James Malone MA:0000170 MAT:0000105 MFO:0002260 NIFSTD:birnlex_1509 Organ component of neuraxis that has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. Examples: There is only one forebrain. SAEL:43 TAO:0000109 The anterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and that especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions. The anterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes especially the cerebral hemispheres, the thalamus, and the hypothalamus and that especially in higher vertebrates is the main control center for sensory and associative information processing, visceral functions, and voluntary motor functions.[accessedResource: BTO:0000478][accessDate: 05-04-2011] The most anterior region the brain including both the telencephalon and diencephalon. The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995. The most anterior region the brain including both the telencephalon and diencephalon. Kimmel et al, 1995.[accessedResource: TAO:0000109][accessDate: 05-04-2011] The most anterior region the brain including both the telencephalon and diencephalon.[accessedResource: ZFA:0000109][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000011 ZFA:0000109 prosencephalon prosencephalon[accessedResource: TAO:0000109][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001890 label: forebrain true obsolete_thalamus BTO:0001365 Dorsal thalamus (Anthoney) Dorsal thalamus (Anthoney)[accessedResource: FMAID:62007][accessDate: 05-04-2011] Dorsal thalamus[accessedResource: FMAID:62007][accessDate: 05-04-2011] EHDAA:3482 EMAPA:17540 EV:0100195 FMAID:62007 James Malone MA:0000179 MAT:0000109 Multi-tissue structure that is paired, and is situated one on either side of and forming part of the lateral wall of the third ventricle. Multi-tissue structure that is paired, and is situated one on either side of and forming part of the lateral wall of the third ventricle.[accessedResource: ZFA:0001215][accessDate: 05-04-2011] NIFSTD:birnlex_954 SAEL:105 TAO:0001215 The largest subdivision of the diencephalon that consists chiefly of an ovoid mass of nuclei in each lateral wall of the third ventricle and functions in the integration of sensory information. The largest subdivision of the diencephalon that consists chiefly of an ovoid mass of nuclei in each lateral wall of the third ventricle and functions in the integration of sensory information.[accessedResource: BTO:0001365][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001215 dorsal thalamus future thalamus thalami thalami[accessedResource: ZFA:0001215][accessDate: 05-04-2011] thalamus dorsalis Use http://purl.obolibrary.org/obo/UBERON_0001897 label: thalamus true 2.38 obsolete_diencephalon BTO:0000342 Between brain Between brain[accessedResource: FMAID:62001][accessDate: 05-04-2011] EHDAA:3472 EMAPA:16896 FMAID:62001 Interbrain[accessedResource: NIFSTD:birnlex_1503][accessDate: 05-04-2011] James Malone MA:0000171 MAT:0000420 MFO:0002280 Mature diencephalon Mature diencephalon[accessedResource: FMAID:62001][accessDate: 05-04-2011] NIFSTD:birnlex_1503 Organ component of neuraxis that has as its parts the epithalamus, thalamus, hypothalamus, subthalamus. There is only one diencephalon. TAO:0000101 The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995. The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis). Kimmel et al, 1995.[accessedResource: TAO:0000101][accessDate: 05-04-2011] The more posterior and ventral of two forebrain neuromeres, the other being the telencephalon; major derivatives are the eye cups, the brain pretectal region, the thalamus, hypothalamus, and epithalamus (including the habenula and epiphysis).[accessedResource: ZFA:0000101][accessDate: 05-04-2011] The posterior subdivision of the forebrain. The posterior subdivision of the forebrain.[accessedResource: BTO:0000342][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000013 ZFA:0000101 betweenbrain interbrain 2.38 use http://purl.obolibrary.org/obo/UBERON_0001894 label: diencephalon true obsolete_telencephalon An enlarged anterior or upper part of the brain; especially: the expanded anterior portion of the brain that in higher mammals overlies the rest of the brain, consists of cerebral hemispheres and connecting structures, and is considered to be the seat of conscious mental processes. An enlarged anterior or upper part of the brain; especially: the expanded anterior portion of the brain that in higher mammals overlies the rest of the brain, consists of cerebral hemispheres and connecting structures, and is considered to be the seat of conscious mental processes.[accessedResource: BTO:0000239][accessDate: 05-04-2011] BTO:0000239 Communicating branch of phrenic nerve to internal thoracic plexus Communicating branch of phrenic nerve to internal thoracic plexus[accessedResource: FMAID:6200][accessDate: 05-04-2011] EHDAA:3496 EMAPA:16910 FMAID:6200 James Malone MA:0000183 MAT:0000421 MFO:0002300 MSH:D013687 MSH:D054022 NIFSTD:birnlex_1115 TAO:0000079 The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995. The anterior and dorsal forebrain neuromere, includes the olfactory bulb. Kimmel et al, 1995.[accessedResource: TAO:0000079][accessDate: 05-04-2011] The anterior and dorsal forebrain neuromere. In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. From Neuroanatomy of the Zebrafish Brain. The anterior and dorsal forebrain neuromere. In ray-finned fishes and most pronounced in teleosts the roof plate of the embryonic telencephalon extends laterally with the effect that the paired alar plates forming the hemispheric walls roll out lateroventrally in a process called eversion. This is unlike the development in other vertebrate groups. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000079][accessDate: 05-04-2011] The telencephalon is the name for a large region within the brain that is attributed many functions. Many people refer to it as the cerebrum; however, it is technically referred to as the telencephalon. As a more technical definition, the telencephalon refers to the cerebral hemispheres and other, smaller structures within the brain, although the telencephalon is one of the larger divisions (in terms of number). It is the anterior-most embryological division of the brain that develops from the prosencephalon. The telencephalon is composed of the following sub-regions; Limbic system; Cerebral cortex or cortices of the cerebral hemispheres, Basal ganglia, Olfactory bulb. The telencephalon comprises what most people think of as the "brain." It lies on top of the brainstem and is the largest and most well-developed of the five major divisions of the brain. The telencephalon is the newest structure in the phylogenetic sense, with mammals having the largest and most well-developed among all species. It emerges from the prosencephalon, the first of three vesicles that form from the embryonic neural tube (Christine Fennema-Notestine). The telencephalon is the name for a large region within the brain that is attributed many functions. Many people refer to it as the cerebrum; however, it is technically referred to as the telencephalon. As a more technical definition, the telencephalon refers to the cerebral hemispheres and other, smaller structures within the brain, although the telencephalon is one of the larger divisions (in terms of number). It is the anterior-most embryological division of the brain that develops from the prosencephalon. The telencephalon is composed of the following sub-regions; Limbic system; Cerebral cortex or cortices of the cerebral hemispheres, Basal ganglia, Olfactory bulb. The telencephalon comprises what most people think of as the "brain." It lies on top of the brainstem and is the largest and most well-developed of the five major divisions of the brain. The telencephalon is the newest structure in the phylogenetic sense, with mammals having the largest and most well-developed among all species. It emerges from the prosencephalon, the first of three vesicles that form from the embryonic neural tube (Christine Fennema-Notestine).[accessedResource: NIFSTD:birnlex_1115][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000012 ZFA:0000079 cerebrum true Use http://purl.obolibrary.org/obo/UBERON_0001893 label: telencephalon 2.38 true obsolete_frontal lobe Anterior portion of the frontal cortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally. Anterior portion of the frontal cortex, lying anterior to the central sulcus in humans. It is bounded by the parietal cortex posteriorly and the temporal cortex laterally.[accessedResource: NIFSTD:nlx_anat_20090601][accessDate: 05-04-2011] BTO:0000484 EV:0100167 FMAID:61824 Front part of the brain; involved in planning, organizing, problem solving, selective attention, personality and a variety of higher cognitive functions including behavior and emotions. Front part of the brain; involved in planning, organizing, problem solving, selective attention, personality and a variety of higher cognitive functions including behavior and emotions.[accessedResource: BTO:0000484][accessDate: 05-04-2011] Frontal cortex[accessedResource: NIFSTD:nlx_anat_20090601][accessDate: 05-04-2011] Frontal lobe is the anterior-most of five lobes of the cerebral hemisphere. It is bounded by the central sulcus on its posterior border and by the longitudinal cerebral fissure on its medial border. Frontal region Frontal region[accessedResource: FMAID:61824][accessDate: 05-04-2011] James Malone MAT:0000505 NIFSTD:birnlex_928 NIFSTD:nlx_anat_20090601 Tomasz Adamusiak frontal cortex higher cognitive functions 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001870 label: frontal cortex obsolete_parietal lobe BTO:0001001 EV:0100166 FMAID:61826 James Malone MAT:0000506 Parietal cortex Parietal cortex[accessedResource: FMAID:61826][accessDate: 05-04-2011] Parietal lobe is the one of five lobes of the cerebral hemisphere which occupies the dorsal-posterior portion of the hemisphere. It is bounded by the central sulcus on its anterior border and and by the longitudinal cerebral fissure on its medial border. Posteriorly it shares an arbitrary border with the occipital lobe. Parietal region Parietal region[accessedResource: FMAID:61826][accessDate: 05-04-2011] The upper central lobe of the cerebral hemisphere, separated from the temporal lobe below by the lateral sulcus, but continuous at the posterior end of that sulcus, and separated from the frontal lobe by the central sulcus. Behind, it is continuous with the occipital lobe on the lateral surface, but separated from it by the parietooccipital sulcus on the medial surface. The upper central lobe of the cerebral hemisphere, separated from the temporal lobe below by the lateral sulcus, but continuous at the posterior end of that sulcus, and separated from the frontal lobe by the central sulcus. Behind, it is continuous with the occipital lobe on the lateral surface, but separated from it by the parietooccipital sulcus on the medial surface.[accessedResource: BTO:0001001][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001872 label: parietal lobe true 2.38 obsolete_occipital lobe BTO:0000293 EV:0100170 FMAID:67325 James Malone MAT:0000507 Occipital cortex Occipital cortex[accessedResource: FMAID:67325][accessDate: 05-04-2011] Occipital lobe is the one of five lobes of the cerebral hemisphere which occupies the posterior-most portion of the hemisphere. Anteriorly, it shares an arbitrary border with the parietal lobe and temporal lobe. Medially, it is bounded by the longitudinal cerebral fissure. Occipital region Occipital region[accessedResource: FMAID:67325][accessDate: 05-04-2011] This lobe is located at the back of the head and is involved in vision and reading. This lobe is located at the back of the head and is involved in vision and reading.[accessedResource: BTO:0000293][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0002021 label: occipital lobe 2.38 obsolete_visual cortex BTO:0001857 EV:0100469 FMAID:236871 James Malone MA:0000914 MAT:0000509 Primary visual cortex The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate c. (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19). The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate cortex (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19). The area of the occipital lobe of the cerebral cortex concerned with vision; it consists of the first visual area or striate cortex (Brodmann's area 17) and two other areas, the second visual area or parastriate area (Brodmann's area 18) and the third visual area or peristriate area (Brodmann's area 19).[accessedResource: BTO:0001857][accessDate: 05-04-2011] striate cortex striate cortex[accessedResource: MAT:0000509][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000411 label: visual cortex obsolete_temporal lobe BTO:0001355 EMAPA:18797 EV:0100169 FMAID:61825 James Malone MAT:0000508 One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (e.g., the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape). One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (for example, the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape). One of the two parietal lobes of the brain located behind the frontal lobe at the top of the brain. Parietal Lobe, Right - Damage to this area can cause visuo-spatial deficits (for example, the patient may have difficulty finding their way around new, or even familiar, places). Parietal Lobe, Left - Damage to this area may disrupt a patient's ability to understand spoken and/or written language. The parietal lobes contain the primary sensory cortex which controls sensation (touch, pressure). Behind the primary sensory cortex is a large association area that controls fine sensation (judgment of texture, weight, size, shape).[accessedResource: BTO:0001355][accessDate: 05-04-2011] Temporal cortex Temporal cortex[accessedResource: FMAID:61825][accessDate: 05-04-2011] Temporal lobe is the ventrolateral lobe of five lobes comprising each cerebral hemisphere. It is bounded dorsally by the lateral fissure and posteriorly by an arbitrary border shared with the occipital lobe. true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001871 label: temporal lobe obsolete_epithalamus BTO:0000175 Brain structure which is part of the diencephalon and consists of the dorsal and ventral nuclei of the habenula, and two dorsal outgrowths, the epiphysis and the saccus dorsalis. From Neuroanatomy of the Zebrafish Brain. Brain structure which is part of the diencephalon and consists of the dorsal and ventral nuclei of the habenula, and two dorsal outgrowths, the epiphysis and the saccus dorsalis. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000509][accessDate: 05-04-2011] EHDAA:5433 EMAPA:17532 FMAID:62009 James Malone MA:0000172 MAT:0000422 MFO:0079980 NIFSTD:birnlex_1710 TAO:0000509 The caudal part of the roof and the adjoining lateral walls of the third ventricle of the diencephalon, comprising the habenular nuclei and their commissure, pineal body, and commissure of the epithalamus. The caudal part of the roof and the adjoining lateral walls of the third ventricle of the diencephalon, comprising the habenular nuclei and their commissure, pineal body, and commissure of the epithalamus.[accessedResource: BTO:0000175][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000509 Use http://purl.obolibrary.org/obo/UBERON_0001899 label epithalamus 2.38 true obsolete_midbrain BTO:0000138 EHDAA:3694 EMAPA:16974 EV:0100242 FMAID:61993 James Malone MA:0000207 MAT:0000106 MFO:0002420 NIFSTD:birnlex_1667 Organ component of neuraxis that has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. Examples: There is only one midbrain. SAEL:68 TAO:0000128 The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995. The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally. Kimmel et al, 1995.[accessedResource: TAO:0000128][accessDate: 05-04-2011] The brain region between the forebrain anteriorly and the hindbrain posteriorly, including the tectum dorsally and the midbrain tegmentum ventrally.[accessedResource: ZFA:0000128][accessDate: 05-04-2011] The middle of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain. The middle of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain.[accessedResource: BTO:0000138][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000014 ZFA:0000128 mesencephalon mesencephalon[accessedResource: ZFA:0000128][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001891 label: midbrain tectum BTO:0001793 EMAPA:19051 FMAID:83902 James Malone MA:0000211 MAT:0000451 MFO:0080060 Midbrain tectum Midbrain tectum[accessedResource: FMAID:83902][accessDate: 05-04-2011] Multi-tissue structure that is the dorsal part of the midbrain and develops from the alar plate and is the most complex layered structure in the zebrafish brain. Multi-tissue structure that is the dorsal part of the midbrain and develops from the alar plate and is the most complex layered structure in the zebrafish brain.[accessedResource: ZFA:0001353][accessDate: 05-04-2011] Neuraxis tectum Neuraxis tectum[accessedResource: FMAID:83902][accessDate: 05-04-2011] TAO:0001353 The dorsal part of the midbrain including the corpora quadrigemina. The dorsal part of the midbrain including the corpora quadrigemina.[accessedResource: BTO:0001793][accessDate: 05-04-2011] ZFA:0001353 dorsal midbrain dorsal midbrain[accessedResource: ZFA:0001353][accessDate: 05-04-2011] mesencephalic tectum mesencephalic tectum[accessedResource: TAO:0001353][accessDate: 05-04-2011] optic tectum optic tectum[accessedResource: ZFA:0001353][accessDate: 05-04-2011] tectal lobe tectal lobe[accessedResource: ZFA:0001353][accessDate: 05-04-2011] tectum mesencephali tectum mesencephali[accessedResource: BTO:0001793][accessDate: 05-04-2011] tectum opticum tectum opticum[accessedResource: ZFA:0001353][accessDate: 05-04-2011] tegmentum EMAPA:18215 FMAID:62393 James Malone MA:0000212 MAT:0000452 Mesencephalic tegmentum[accessedResource: FMAID:62393][accessDate: 05-04-2011] Midbrain tegmentum[accessedResource: FMAID:62393][accessDate: 05-04-2011] Multi-tissue structure that is the ventral part of the midbrain and develops from the basal plate. The tegmentum is bordered rostrally by the synencephalon, dorsal thalamus and posterior tuberculum, ventrally by the hypothalamus, and dorsolaterally by the torus semicircularis; caudally the tegmentum is continuous with the medulla oblongata. Multi-tissue structure that is the ventral part of the midbrain and develops from the basal plate. The tegmentum is bordered rostrally by the synencephalon, dorsal thalamus and posterior tuberculum, ventrally by the hypothalamus, and dorsolaterally by the torus semicircularis; caudally the tegmentum is continuous with the medulla oblongata.[accessedResource: ZFA:0001354][accessDate: 05-04-2011] NIFSTD:birnlex_1031 Subdivision of the midbrain lying anterior to the tectum and posterior to the substantia nigra and cerebral peduncle. TAO:0001354 Tegmentum of midbrain Tegmentum of midbrain[accessedResource: FMAID:62393][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001354 mesencephalic tegmentum midbrain tegmentum obsolete_substantia nigra BTO:0000143 EV:0100247 FMAID:67947 James Malone MA:0000210 MAT:0000504 Nucleus of basis pedunculi Nucleus of basis pedunculi[accessedResource: FMAID:67947][accessDate: 05-04-2011] Soemmering's substance Soemmering's substance[accessedResource: FMAID:67947][accessDate: 05-04-2011] Subdivision of the midbrain anterior to the midbrain tegmentum which contains darkly pigmented neurons. The substantia nigra is located in the mesencephalon (mid brain) region of the brain. It is part of the basal ganglia. The substantia nigra is located in the mesencephalon (mid brain) region of the brain. It is part of the basal ganglia.[accessedResource: BTO:0000143][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002038 label: substantia nigra true obsolete_hindbrain BTO:0000672 EHDAA:3514 EMAPA:16916 FMAID:67687 James Malone MA:0000195 MAT:0000107 MFO:0002340 NIFSTD:birnlex_942 Organ component of neuraxis that has as its parts the pons, cerebellum and medulla oblongata . Examples: There is only one hindbrain. SAEL:50 TAO:0000029 The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995. The most posterior of the three principal regions of the brain, forming the rhombencephalon and all or most of the metencephalon. Kimmel et al, 1995.[accessedResource: TAO:0000029][accessDate: 05-04-2011] The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain. The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000029][accessDate: 05-04-2011] The posterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes the cerebellum, the medulla oblongata, and in mammals the pons and that controls autonomic functions and equilibrium. The posterior of the three primary divisions of the developing vertebrate brain or the corresponding part of the adult brain that includes the cerebellum, the medulla oblongata, and in mammals the pons and that controls autonomic functions and equilibrium.[accessedResource: BTO:0000672][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000015 ZFA:0000029 rhombencephalon rhombencephalon[accessedResource: TAO:0000029][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002028 label: hindbrain 2.38 true obsolete_medulla oblongata BTO:0000041 Brain structure that is located ventrocaudal to the cerebellum and just anterior to the spinal cord and contains the sensory and motor nuclei of six cranial nerves. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. Brain structure that is located ventrocaudal to the cerebellum and just anterior to the spinal cord and contains the sensory and motor nuclei of six cranial nerves. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here.[accessedResource: ZFA:0000545][accessDate: 05-04-2011] Bulb Bulb[accessedResource: FMAID:62004][accessDate: 05-04-2011] EHDAA:7588 EMAPA:17550 EV:0100275 FMAID:62004 James Malone MA:0000206 MAT:0000111 Metepencephalon Metepencephalon[accessedResource: FMAID:62004][accessDate: 05-04-2011] NIFSTD:birnlex_957 Organ component of neuraxis that has as its parts the medullary reticular formation, inferior olivary complex and cochlear nuclear complex, among other structures. Examples: There is only one medulla oblongata. SAEL:13 SAEL:65 TAO:0000545 The part of the vertebrate brain that is continuous posteriorly with the spinal cord and that contains the centers controlling involuntary vital functions. The part of the vertebrate brain that is continuous posteriorly with the spinal cord and that contains the centers controlling involuntary vital functions.[accessedResource: BTO:0000041][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000545 medulla medulla oblonmgata medulla oblonmgata[accessedResource: MAT:0000111][accessDate: 05-04-2011] medulla[accessedResource: NIFSTD:birnlex_957][accessDate: 05-04-2011] myelencephalon myelencephalon[accessedResource: NIFSTD:birnlex_957][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001896 label: medulla oblongata true 2.38 obsolete_mushroom body BTO:0002675 Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; and the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma). Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; and the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma).[accessedResource: FBbt:00005801][accessDate: 05-04-2011] Bilaterally paired neuropil structure situated postero-dorsally in the protocerebrum that functions in olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma). FBbt:00005801 James Malone MAT:0000336 Paired neuropil structure situated postero-dorsally in the protocerebrum, which are thought to be crucial to olfactory associative learning and memory. The mushroom body is divided into: the calyx, which is closest to the cortex and receives sensory interneuron afferents; the pedunculus, which is a thick axon bundle extending from the calyx to the base of the lobes; the mushroom body lobe system, which consists of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma). Paired neuropil structure, situated postero-dorsally in the protocerebrum, which are thought to be crucial to olfactory associative learning and memory. Mushroom bodies are divided into: the calyx, closest to the cortex, which receives sensory interneuron afferents; a thick axon bundle called the pedunculus, which extends from the calyx to the base of the lobes; the mushroom body lobe system consisting of a vertical branch composed of two intertwined lobes (alpha and alpha') and a medial branch consisting of three parallel lobes (beta, beta' and gamma). The Drosophila mushroom bodies (MBs), paired brain structures composed of vertical and medial lobes, achieve their final organization at metamorphosis. The Drosophila mushroom bodies (MBs), paired brain structures composed of vertical and medial lobes, achieve their final organization at metamorphosis.[accessedResource: BTO:0002675][accessDate: 05-04-2011] corpora pedunculata corpora pedunculata[accessedResource: FBbt:00005801][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001058 label: mushroom body obsolete_pars intercerebralis A medial cleft or depression dividing the left and right protocerebrum and containing numerous large and small somata of neurosecretory and neuromodulatory neurons. FBbt:00005802 James Malone MAT:0000337 Region of the cortex that lies in a medial cleft dividing the left and right protocerebrum. It contains numerous large and small somata of neurosecretory and neuromodulatory neurons. Region of the cortex that lies in a medial cleft dividing the left and right protocerebrum. It contains numerous large and small somata of neurosecretory and neuromodulatory neurons.[accessedResource: FBbt:00005802][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0001059 label: pars intercerebralis true obsolete_pronephros 1. The primordial kidney; a vestigial excretory structure or its rudiments developing in the embryo at four weeks, before the mesonephros. Although nonfunctional, its duct is later used by the mesonephros, which arises caudal to it.n2. The definitive excretory organ of primitive fishes. 1. The primordial kidney; a vestigial excretory structure or its rudiments developing in the embryo at four weeks, before the mesonephros. Although nonfunctional, its duct is later used by the mesonephros, which arises caudal to it.n2. The definitive excretory organ of primitive fishes.[accessedResource: BTO:0001541][accessDate: 05-04-2011] BTO:0001541 EHDAA:1017 EMAPA:16579 EV:3000635 James Malone MAT:0000117 MFO:0003340 TAO:0000151 The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion. The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995. The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.Kimmel et al, 1995.[accessedResource: TAO:0000151][accessDate: 05-04-2011] The embryonic kidney, present at the level of the third somite, is composed of two glomeruli fused at the midline, two pronephric tubules, and paired bilateral pronephric ducts that modify the composition of the blood filtrate before delivering it to the cloaca for excretion.[accessedResource: ZFA:0000151][accessDate: 05-04-2011] The first kidney is all vertebrates - it is transitional and disappears soon after it has formed. The first kidney is all vertebrates - it is transitional and disappears soon after it has formed.[accessedResource: MAT:0000117][accessDate: 05-04-2011] XAO:0002000 ZFA:0000151 anterior kidney archinephron embryonic kidney embryonic kidney[accessedResource: ZFA:0000151][accessDate: 05-04-2011] head kidney kidney[accessedResource: TAO:0000151][accessDate: 05-04-2011] pronephric nephron pronephric nephron[accessedResource: ZFA:0000151][accessDate: 05-04-2011] pronephron Use http://purl.obolibrary.org/obo/UBERON_0002120 label: pronephros 2.38 true obsolete_mesonephros BTO:0001542 James Malone MAT:0000118 MFO:0003300 TAO:0000529 The excretory organ of the embryo, arising caudal to the pronephros or pronephric rudiments and using its duct; it consists of a long tube in the lower part of the body cavity, running parallel with the vertebral axis and joined at right angles by a row of twisting tubes. The excretory organ of the embryo, arising caudal to the pronephros or pronephric rudiments and using its duct; it consists of a long tube in the lower part of the body cavity, running parallel with the vertebral axis and joined at right angles by a row of twisting tubes.[accessedResource: BTO:0001542][accessDate: 05-04-2011] The functioning kidney in fish and amphibia The functioning kidney in fish and amphibia[accessedResource: MAT:0000118][accessDate: 05-04-2011] XAO:0000154 ZFA:0000529 corpus Wolffi kidney - fish kidney[accessedResource: ZFA:0000529][accessDate: 05-04-2011] mesonephric kidney mesonephron mesonephron[accessedResource: BTO:0001542][accessDate: 05-04-2011] mesonephros - adult mesonephros - adult[accessedResource: MAT:0000118][accessDate: 05-04-2011] mesonephrpric kidney mesonephrpric kidney[accessedResource: MAT:0000118][accessDate: 05-04-2011] middle kidney wolffian body 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000080 label: mesonephros true obsolete_kidney 1: One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in humans are bean-shaped organs about 4 1/2 inches (11 1/2 centimeters) long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.n2: Any of various excretory organs of invertebrate animals. 1: One of a pair of vertebrate organs situated in the body cavity near the spinal column that excrete waste products of metabolism, in humans are bean-shaped organs about 4 1/2 inches (11 1/2 centimeters) long lying behind the peritoneum in a mass of fatty tissue, and consist chiefly of nephrons by which urine is secreted, collected, and discharged into a main cavity whence it is conveyed by the ureter to the bladder.n2: Any of various excretory organs of invertebrate animals.[accessedResource: BTO:0000671][accessDate: 05-04-2011] AAO:0000250 BTO:0000671 EHDAA:5911 EMAPA:17373 EV:0100096 FMAID:7203 James Malone MA:0000368 MAT:0000119 SAEL:57 WBbt:0005775 excretory canal metanephros 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney obsolete_ureter BTO:0001409 EHDAA:7009 EMAPA:17950 EV:0100097 FMAID:9704 James Malone MA:0000378 Organ with organ cavity which connects the renal sinus to the urinary bladder. Examples: There are only two ureters, the right and the left ureters. The tube that carries urine from the kidney to the bladder. The tube that carries urine from the kidney to the bladder.[accessedResource: BTO:0001409][accessDate: 05-04-2011] WBbt:0004540 WBbt:0005777 XAO:0000144 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000056 label: ureter obsolete_urethra BTO:0001426 EMAPA:18692 EV:0100099 FMAID:19667 James Malone MA:0000379 MAT:0000121 Organ with organ cavity which connects the cavity of the urinary bladder to the exterior. Examples: There is only one urethra. The tube through which urine leaves the body. It empties urine from the bladder. The tube through which urine leaves the body. It empties urine from the bladder.[accessedResource: BTO:0001426][accessDate: 05-04-2011] WBbt:0005777 XAO:0000153 excretory duct Use http://purl.obolibrary.org/obo/UBERON_0000057 label: urethra true 2.38 obsolete_bronchus BTO:0001340 Bronchial trunk Bronchial trunk[accessedResource: FMAID:7409][accessDate: 05-04-2011] EHDAA:3072 EMAPA:16849 EV:0100041 Either of the two primary divisions of the trachea that lead respectively into the right and the left lung. Either of the two primary divisions of the trachea that lead respectively into the right and the left lung.[accessedResource: BTO:0001340][accessDate: 05-04-2011] FMAID:7409 James Malone MA:0000436 MAT:0000133 SAEL:14 XAO:0000121 bronchial tissue main bronchus main bronchus[accessedResource: MAT:0000133][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002185 label: bronchus true gill A paired respiratory organ in fishes consisting of gill filaments on the gill arch in the posterior portion of the head and usually providing the primary exchange of gases between the blood and the surrounding water. A paired respiratory organ in fishes consisting of gill filaments on the gill arch in the posterior portion of the head and usually providing the primary exchange of gases between the blood and the surrounding water.[accessedResource: BTO:0000518][accessDate: 05-04-2011] BTO:0000518 Compound organ that consists of gill filaments, gill lamellae, gill rakers and pharyngeal arches 3-7. The gills are responsible for primary gas exchange between the blood and the surrounding water. Compound organ that consists of gill filaments, gill lamellae, gill rakers and pharyngeal arches 3-7. The gills are responsible for primary gas exchange between the blood and the surrounding water.[accessedResource: ZFA:0000354][accessDate: 05-04-2011] James Malone MAT:0000134 MFO:0003180 TAO:0000354 XAO:0000120 ZFA:0000354 branchia external gill external gill[accessedResource: MAT:0000134][accessDate: 05-04-2011] gills gills[accessedResource: ZFA:0000354][accessDate: 05-04-2011] obsolete_lung AAO:0000275 BTO:0000763 EHDAA:2205 EMAPA:16728 EV:0100042 FMAID:7195 James Malone Lobular organ which has as its parts alveoli connected to the tracheobronchial tree. Examples: There are only two instances, right lung and left lung. MA:0000415 MAT:0000135 One of the usually paired compound saccular thoracic organs that constitute the basic respiratory organ of air-breathing vertebrates. One of the usually paired compound saccular thoracic organs that constitute the basic respiratory organ of air-breathing vertebrates.[accessedResource: BTO:0000763][accessDate: 05-04-2011] SAEL:62 XAO:0000119 lungs lungs[accessedResource: MAT:0000135][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung obsolete_trachea 1: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. It is kept patent by a series of about twenty transverse horseshoe-shaped cartilages. Called also windpipe.n2: One of a system of minute tubes ramifying throughout the body of a terrestrial arthropod and delivering air to the tissues. Called also tracheal tubule. 1: The cartilaginous and membranous tube descending from the larynx and branching into the right and left main bronchi. It is kept patent by a series of about twenty transverse horseshoe-shaped cartilages. Called also windpipe.n2: One of a system of minute tubes ramifying throughout the body of a terrestrial arthropod and delivering air to the tissues. Called also tracheal tubule.[accessedResource: BTO:0001388][accessDate: 05-04-2011] BTO:0001388 Cuticle-lined epithelial tube that forms part of the tracheal system. The thinnest trachea consist of a single tracheocyte folded back on itself to form a tube. Cuticle-lined epithelial tube that forms part of the tracheal system. The thinnest trachea consist of a single tracheocyte folded back on itself to form a tube.[accessedResource: FBbt:00005043][accessDate: 05-04-2011] EHDAA:3078 EMAPA:16853 EV:0100040 FBbt:00005043 FMAID:7394 James Malone MA:0000441 MAT:0000137 SAEL:111 TADS:000315 Windpipe[accessedResource: FMAID:7394][accessDate: 05-04-2011] XAO:0000118 tracheal tubule windpipe 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0003126 label: trachea spiracle FBbt:00005054 In its simplest form, the aperture or opening into a trachea (primary tracheal orifice); in most insects, sunken below the surface of the integument (secondary orifice) thus comprising a chamber, the spiracular atrium, and the external opening into this chamber, the spiracular opening. In its simplest form, the aperture or opening into a trachea (primary tracheal orifice); in most insects, sunken below the surface of the integument (secondary orifice) thus comprising a chamber, the spiracular atrium, and the external opening into this chamber, the spiracular opening.[accessedResource: TGMA:0000578][accessDate: 05-04-2011] James Malone MAT:0000208 Opening of the tracheal system on the surface of the body. Opening of the tracheal system on the surface of the body.[accessedResource: FBbt:00005054][accessDate: 05-04-2011] TADS:0000524 TGMA:0000578 The mostly slit-like opening on the body surface of the insects through which air is taken into the respiratory system. spiracular gland spiracular gland[accessedResource: MAT:0000208][accessDate: 05-04-2011] spiraculum obsolete_diaphragm BTO:0000341 EHDAA:4104 EMAPA:17701 EV:0100376 FMAID:13295 James Malone MAT:0000502 The thin muscle below the lungs and heart that separates the chest from the abdomen. The thin muscle below the lungs and heart that separates the chest from the abdomen.[accessedResource: BTO:0000341][accessDate: 05-04-2011] Thoracic diaphragm Thoracic diaphragm[accessedResource: FMAID:13295][accessDate: 05-04-2011] diaphragm muscle future diaphragm future diaphragm[accessedResource: MAT:0000502][accessDate: 05-04-2011] midriff phren Use http://purl.obolibrary.org/obo/UBERON_0001103 label: diaphragm true 2.38 sensory bristle A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized. A sensillum with a long, unicellular, setiform outgrowth that is strongly chitinized.[accessedResource: FBbt:00005177][accessDate: 05-04-2011] FBbt:00005177 James Malone MAT:0000152 chaeta chaeta[accessedResource: FBbt:00005177][accessDate: 05-04-2011] sensillum chaeticum sensillum chaeticum[accessedResource: FBbt:00005177][accessDate: 05-04-2011] sensillum A simple epithelial sense organ of an invertebrate (as an insect) usually in the form of a spine, plate, rod, cone, or peg that is composed of one or a few cells with a nerve connection. A simple epithelial sense organ of an invertebrate (as an insect) usually in the form of a spine, plate, rod, cone, or peg that is composed of one or a few cells with a nerve connection.[accessedResource: BTO:0001237][accessDate: 05-04-2011] BTO:0001237 Defined by Snodgrass as "a simple sense organ, or one of the structural units of a compound sense organ," and by Schneider as "a specialized area of the integument, consisting of formative cells, the sensory nerve cells, and, in some cases, auxiliary cells". Defined by Snodgrass as "a simple sense organ, or one of the structural units of a compound sense organ," and by Schneider as "a specialized area of the integument, consisting of formative cells, the sensory nerve cells, and, in some cases, auxiliary cells".[accessedResource: TGMA:0000540][accessDate: 05-04-2011] James Malone MAT:0000163 TADS:0000089 TADS:0000301 TGMA:0000540 WBbt:0006929 and by Schneider as seta seta[accessedResource: MAT:0000163][accessDate: 05-04-2011] obsolete_chordotonal organ An auditory and vibration detector in insects An auditory and vibration detector in insects[accessedResource: MAT:0000209][accessDate: 05-04-2011] Chordotonal organs are arthropod sensory structures consisting of special sensilla called the scolopidia, which are mechano-transducers and respond mainly to stretch or flexion. In insects, they consist of bundles of internal sensilla, each of which has a cap cell, an enveloping cell and one or more sense cells. The distal end of the organ is usually attached to the cuticle of the body wall, marked by a pit, a thickened disc or a nodule of chitin, and the base of the organ is connected with the hypodermis, often by a special ligament. FBbt:00005215 James Malone MAT:0000209 Mechanosensory organ, generally attached to the body wall and consisting of one or more scolopidia. Mechanosensory organ, generally attached to the body wall and consisting of one or more scolopidia.[accessedResource: FBbt:00005215][accessDate: 05-04-2011] ch scolopophorous organ Use http://purl.obolibrary.org/obo/UBERON_0001038 label: chordotonal organ 2.38 true obsolete_lateral line system A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000034][accessDate: 05-04-2011] AAO:0000269 James Malone MAT:0000249 MFO:0003620 TAO:0000282 XAO:0000095 ZFA:0000034 a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes a line of neuroblasts along the sides of fish and amphibia that detect vibrations and pressure changes[accessedResource: MAT:0000249][accessDate: 05-04-2011] lateral_line_system lateral_line_system[accessedResource: MAT:0000249][accessDate: 05-04-2011] ll ll[accessedResource: ZFA:0000034][accessDate: 05-04-2011] sensory system[accessedResource: TAO:0000282][accessDate: 05-04-2011] sensory systems[accessedResource: TAO:0000282][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002540 label: lateral line system 2.38 true axial skeleton structure *Subdivision of skeleton which consists of the bones of the vertebral column, the thoracic cage and the pelvis. AAO:0000034 Axial skeleton[accessedResource: FMAID:71221][accessDate: 05-04-2011] EHDAA:5049 EMAPA:17214 FMAID:71221 James Malone MA:0000308 MAT:0000148 SAEL:121 TAO:0000317 The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins. The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[accessedResource: ZFA:0000317][accessDate: 05-04-2011] The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins. The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[accessedResource: TAO:0000317][accessDate: 05-04-2011] ZFA:0000317 axial skeleton postcranial axia skelton postcranial axia skelton[accessedResource: MAT:0000148][accessDate: 05-04-2011] postcranial axial skeleton postcranial axial skeleton[accessedResource: ZFA:0000317][accessDate: 05-04-2011] vertebral column obsolete_craniofacial skeleton bone 1.8 AAO:0000109 Anatomical cluster that is part of the cranium and composed of cartilage and cartilage replacement bones. EHDAA:6029 EMAPA:17680 FMAID:46565 FMAID:87596 James Malone MA:0000316 MAT:0000149 Skeletal system that is part of the head, including the splanchnocranium, chondrocranium, and dermatocranium. Subdivision of skeletal system which consists of the skeleton of the head and its joints. Synonym with cranium, use cranium instead. TAO:0001424 ZFA:0000737 true exoskeleton FBbt:00004970 James Malone MAT:0000150 The outer non-living layer of the integumentary system derived from the epidermis. The outer non-living layer of the integumentary system derived from the epidermis.[accessedResource: FBbt:00004970][accessDate: 05-04-2011] cuticle cuticle[accessedResource: FBbt:00004970][accessDate: 05-04-2011] obsolete_limb bone James Malone MA:0000688 MAT:0000151 limb skeleton Use http://purl.obolibrary.org/obo/UBERON_0002428 label: limb bone true 2.38 pectoral girdle EHDAA:6039 EMAPA:18025 FMAID:23217 James Malone MA:0000292 MAT:0000181 Shoulder girdle Shoulder girdle[accessedResource: FMAID:23217][accessDate: 05-04-2011] Subdivision of free upper limb, which is the proximal segment of an upper limb and links the free upper limb to the trunk; it is demarcated by the plane of the surface of the glenoid fossa from the free upper limb; together with the free upper limb, it constitutes the upper limb. Examples: There are only two instances, right and left pectoral girdles. Upper limb girdle Upper limb girdle[accessedResource: FMAID:23217][accessDate: 05-04-2011] girdle - pectoral girdle - pectoral[accessedResource: MAT:0000181][accessDate: 05-04-2011] shoulder bones pelvic girdle EHDAA:7149 EMAPA:18028 FMAID:16581 James Malone MA:0000293 MAT:0000182 Subdivision of free lower limb, which is the proximal segment of a lower limb and links the free lower limb to the trunk; it is demarcated by the plane of the surface of the acetabular fossa from the free lower limb; together with the free lower limb, it constitutes the lower limb. Examples: There are only two instances, right and left pelvic girdles. girdle - pelvic girdle - pelvic[accessedResource: MAT:0000182][accessDate: 05-04-2011] joint Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue. Anatomical cluster which consists of two or more adjacent bones or cartilages, which may be interconnected by various types of tissue.[accessedResource: TAO:0000367][accessDate: 05-04-2011] Anatomical junction which consists of parts of two or more adjacent bones or cartilages which are interconnected by organs and/or organ parts that consist of various types of connective tissue. Together with other joints and bones, a joint constitutes the skeletal system. Examples: pubic symphysis, knee joint, temporomandibular joint. BTO:0001686 EV:0100142 FBbt:00004645 FMAID:228659 FMAID:7490 James Malone MA:0000319 MAT:0000188 Set of all joints[accessedResource: FMAID:228659][accessDate: 05-04-2011] TAO:0000367 The point of contact between elements of an animal skeleton with the parts that surround and support it. The point of contact between elements of an animal skeleton with the parts that surround and support it.[accessedResource: BTO:0001686][accessDate: 05-04-2011] XAO:0000171 articular joint set of all joints cartilage A specialized, fibrous connective tissue, forming most of the temporary skeleton of the embryo, providing a model in which most of the bones develop, and constituting an important part of the growth mechanism of the organism. It exists in several types, the most important of which are hyaline cartilage, elastic cartilage, and fibrocartilage. Also used as a general term to designate a mass of such tissue in a particular site in the body. A specialized, fibrous connective tissue, forming most of the temporary skeleton of the embryo, providing a model in which most of the bones develop, and constituting an important part of the growth mechanism of the organism. It exists in several types, the most important of which are hyaline cartilage, elastic cartilage, and fibrocartilage. Also used as a general term to designate a mass of such tissue in a particular site in the body.[accessedResource: BTO:0000206][accessDate: 05-04-2011] BTO:0000206 EV:0100141 James Malone MA:0000104 MAT:0000189 Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited. Portion of tissue which is connective tissue composed of collagen and/or elastin fibers and chondrocytes. Cartilage is avascular and provides both skeletal functions and a framework upon which bone is deposited.[accessedResource: TAO:0001501][accessDate: 05-04-2011] SAEL:17 TAO:0001501 XAO:0000170 median fin skeleton James Malone MAT:0000277 OntologyMappingImporter following MAT:0000277 ZFA:0001123 axial fin skeleton axial fin skeleton[accessedResource: ZFA:0001123][accessDate: 05-04-2011] unpaired fin skeleton unpaired fin skeleton[accessedResource: ZFA:0001123][accessDate: 05-04-2011] paired fin skeleton James Malone MAT:0000278 OntologyMappingImporter following MAT:0000278 Skeletal system that consists of the paired fins (pectoral or pelvic fins). Skeletal system that consists of the paired fins (pectoral or pelvic fins).[accessedResource: TAO:0000027][accessDate: 05-04-2011] TAO:0000027 ZFA:0000027 appendicular skeleton appendicular skeleton[accessedResource: TAO:0000027][accessDate: 05-04-2011] obsolete_dermis A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales. A collagenous layer of the skin subjacent to the epidermis and covering the hypodermis. It contains various types of cells (e.g. fibroblasts, pigment cells, nerve, blood vessels and scales.[accessedResource: ZFA:0001119][accessDate: 05-04-2011] AAO:0000128 BTO:0000294 Dense irregular connective tissue which consists of a papillary layer and a reticular layer. EMAPA:17527 EV:0100154 FMAID:70323 James Malone MA:0000152 MAT:0000153 SAEL:27 The sensitive vascular inner mesodermic layer of the skin. The sensitive vascular inner mesodermic layer of the skin.[accessedResource: BTO:0000294][accessDate: 05-04-2011] XAO:0000217 ZFA:0001119 corium cutis true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002067 label: dermis obsolete_epidermis A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present. A cellular, multilayered epithelium derived from the ectoderm. Zebrafish epidermis consists only of living cells unlike terrestrial vertebrates in which dead, keratinized cells are present.[accessedResource: ZFA:0000105][accessDate: 05-04-2011] AAO:0000143 BTO:0000404 EMAPA:17528 EV:0100153 FBbt:00005401 FMAID:70596 James Malone MA:0000153 MAT:0000154 SAEL:35 TADS:0000109 The outer epithelial layer of the external integument of the animal body that is derived from the embryonic epiblast; specifically: the outer nonsensitive and nonvascular layer of the skin of a vertebrate that overlies the dermis. The outer epithelial layer of the external integument of the animal body that is derived from the embryonic epiblast; specifically: the outer nonsensitive and nonvascular layer of the skin of a vertebrate that overlies the dermis.[accessedResource: BTO:0000404][accessDate: 05-04-2011] WBbt:0005733 ZFA:0000105 adult epidermis adult epidermis[accessedResource: FBbt:00005401][accessDate: 05-04-2011] hypodermis Use http://purl.obolibrary.org/obo/UBERON_0001003 label: epidermis 2.38 true obsolete_feather Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane. Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane.[accessedResource: BTO:0000447][accessDate: 05-04-2011] BTO:0000447 James Malone MAT:0000156 Use http://purl.obolibrary.org/obo/UBERON_0000022 label: feather 2.38 true obsolete_nail EMAPA:18734 EV:0100159 FMAID:54326 James Malone MA:0002703 MAT:0000158 Nail plate Nail plate[accessedResource: FMAID:54326][accessDate: 05-04-2011] claw claw[accessedResource: MAT:0000158][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001705 label: nail 2.38 hair 1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head. 1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head.[accessedResource: BTO:0001501][accessDate: 05-04-2011] BTO:0001501 EMAPA:17529 EMAPA:18769 EV:0100157 FMAID:53667 James Malone MA:0000155 MAT:0000160 MSH:D006197 true vibrissa vibrissa[accessedResource: MAT:0000160][accessDate: 05-04-2011] obsolete_pharyngeal arch BTO:0001785 James Malone MAT:0000242 One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of a vertebrate embryo, consist typically of a curved segmented bar or rod on each side meeting the contralateral bar or rod at the ventral end, and correspond to the gill arches of fishes and amphibians. One of a series of bony or cartilaginous arches that develop in the walls of the mouth cavity and pharynx of a vertebrate embryo, consist typically of a curved segmented bar or rod on each side meeting the contralateral bar or rod at the ventral end, and correspond to the gill arches of fishes and amphibians.[accessedResource: BTO:0001785][accessDate: 05-04-2011] ZFA:0001306 branchial arch branchial arch[accessedResource: BTO:0001785][accessDate: 05-04-2011] pharyngeal arches pharyngeal arches[accessedResource: ZFA:0001306][accessDate: 05-04-2011] visceral arch true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0002539 label: pharyngeal arch obsolete_scale Dermal bone that is thin, flexible, and platelike, and that develops in overlapping skinfolds that cover the body and often the head of fish and the bases of the fins. Dermal bone that is thin, flexible, and platelike, and that develops in overlapping skinfolds that cover the body and often the head of fish and the bases of the fins.[accessedResource: ZFA:0000277][accessDate: 05-04-2011] James Malone Jie Zheng MAT:0000257 MO_108 OntologyMappingImporter following MAT:0000257 Tomasz Adamusiak ZFA:0000277 scales scales[accessedResource: ZFA:0000277][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002542 label: scale true adult segment FBbt:00000003 James Malone MAT:0000271 One of the repeated divisions of the whole organism. One of the repeated divisions of the whole organism.[accessedResource: FBbt:00000003][accessDate: 05-04-2011] segment segment - adult segment - adult[accessedResource: MAT:0000271][accessDate: 05-04-2011] segment[accessedResource: FBbt:00000003][accessDate: 05-04-2011] skin BTO:0001253 EHDAA:6530 EMAPA:17525 EV:0100152 FMAID:7163 James Malone MAT:0000284 MFO:0003200 Nonparenchymatous organ that consists of the epidermis, dermis and sets of hair and nails and which surrounds the entire body. Subdivisions of the skin surround various body parts; as a whole, the skin constitutes the external layer of the body. Examples: There is only one skin. SAEL:95 Skin of body Skin of body[accessedResource: FMAID:7163][accessDate: 05-04-2011] The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers. The integument of an animal (as a fur-bearing mammal or a bird) separated from the body usually with its hair or feathers.[accessedResource: BTO:0001253][accessDate: 05-04-2011] XAO:0000023 obsolete_tail BTO:0001348 EMAPA:16748 James Malone MA:0000008 MAT:0000094 MFO:0081020 Organism subdivision which is the part of the body posterior to the vent which includes the anal and caudal fins. Organism subdivision which is the part of the body posterior to the vent which includes the anal and caudal fins.[accessedResource: ZFA:0001117][accessDate: 05-04-2011] SAEL:103 The rear end or a process or prolongation of the rear end of the body of an animal. The rear end or a process or prolongation of the rear end of the body of an animal.[accessedResource: BTO:0001348][accessDate: 05-04-2011] WBbt:0005741 XAO:0003026 ZFA:0001117 post-vent region post-vent region[accessedResource: ZFA:0001117][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002415 label: tail true 2.38 obsolete_head BTO:0000282 Cardinal body part, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the skull, it is partially surrounded by skin of head. Examples: There is only one head. EV:0100475 FBbt:00000004 FMAID:7154 Head (volume) Head (volume)[accessedResource: FMAID:7154][accessDate: 05-04-2011] James Malone MAT:0000294 MFO:0001660 NIFSTD:birnlex_1230 Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions. Organism subdivision which is the part of the body which consists of the cranial and pharygeal regions.[accessedResource: TAO:0001114][accessDate: 05-04-2011] SAEL:46 TAO:0001114 TGMA:0000002 The anterior section (tagma) of the insect body bearing the compound eyes, antennae and mouthparts; separated from the thorax by the cervix. The anterior section (tagma) of the insect body bearing the compound eyes, antennae and mouthparts; separated from the thorax by the cervix.[accessedResource: TGMA:0000002][accessDate: 05-04-2011] The upper or anterior division of the animal body that contains the brain, the chief sense organs, and the mouth. The upper or anterior division of the animal body that contains the brain, the chief sense organs, and the mouth.[accessedResource: BTO:0000282][accessDate: 05-04-2011] Tomasz Adamusiak WBbt:0005739 XAO:0003024 adult head adult head[accessedResource: TGMA:0000002][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000033 label: head obsolete_thorax 1: The part of the mammalian body between the neck and the abdomen; also: its cavity in which the heart and lungs lie.n2: The middle of the three chief divisions of the body of an insect; also: the corresponding part of a crustacean or an arachnid. 1: The part of the mammalian body between the neck and the abdomen; also: its cavity in which the heart and lungs lie.n2: The middle of the three chief divisions of the body of an insect; also: the corresponding part of a crustacean or an arachnid.[accessedResource: BTO:0001368][accessDate: 05-04-2011] A small, slender, rigid, needle- or thornlike spicule. A small, slender, rigid, needle- or thornlike spicule.[accessedResource: TGMA:000136][accessDate: 05-04-2011] Any blade with a few short branches arising apically or subapically. BTO:0001368 Chest Chest[accessedResource: FMAID:9576][accessDate: 05-04-2011] EV:0100010 FBbt:00000015 FMAID:9576 James Malone MAT:0000295 SAEL:106 Subdivision of trunk proper, which is demarcated from the neck by the plane of the superior thoracic aperture and from the abdomen internally by the inferior surface of the diaphragm and externally by the costal margin and associated with the thoracic vertebral column and ribcage and from the back of the thorax by the external surface of the posterolateral part of the rib cage, the anterior surface of the thoracic vertebral column and the posterior axillary lines; together with the abdomen and the perineum, it constitutes the trunk proper. Examples: There is only one thorax. TGMA:000136 The main middle section of the insect body comprising three thoracic rings: the pro-, the meso- and the metathoraces which are more or less well fused and cask-like sometimes having on the upper lateral part one of two pairs of wings, while on the ventrolateral part each thoracic ring bears a pair of legs. The main middle section of the insect body comprising three thoracic rings: the pro-, the meso- and the metathoraces which are more or less well fused and cask-like sometimes having on the upper lateral part one of two pairs of wings, while on the ventrolateral part each thoracic ring bears a pair of legs.[accessedResource: FBbt:00000015][accessDate: 05-04-2011] acicula acicula[accessedResource: TGMA:000136][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001443 label: chest obsolete_trunk 1: The human or animal body apart from the head and appendages.n2: The thorax of an insect. 1: The human or animal body apart from the head and appendages.n2: The thorax of an insect.[accessedResource: BTO:0001493][accessDate: 05-04-2011] BTO:0001493 FMAID:7181 James Malone MAT:0000296 MFO:0001720 NIFSTD:sao1078172392 Organism subdivision which is the part of the body posterior to the head and anterior to the tail. Organism subdivision which is the part of the body posterior to the head and anterior to the tail.[accessedResource: TAO:0001115][accessDate: 05-04-2011] Rumpf SAEL:112 Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the ribcage, thoracic and lumbar vertebral column, sacrum and coccyx, it is partially surrounded by skin of trunk. Examples: There is only one trunk. TAO:0001115 Tomasz Adamusiak Torso Torso[accessedResource: FMAID:7181][accessDate: 05-04-2011] XAO:0003025 Use http://purl.obolibrary.org/obo/UBERON_0002100 label: trunk 2.38 true obsolete_neck BTO:0000420 EV:0100476 FMAID:7155 James Malone MAT:0000297 NIFSTD:sao1642908940 Neck (volume) Neck (volume)[accessedResource: FMAID:7155][accessDate: 05-04-2011] SAEL:70 Spine Neck Spine Neck[accessedResource: NIFSTD:sao1642908940][accessDate: 05-04-2011] Subdivision of body proper, which consists of a maximal set of diverse subclasses of organ and organ part spatially associated with the cervical vertebral coumn, it is partially surrounded by skin of neck. Examples: There is only one neck. TGMA:0000005 The membranous tube that attaches the thorax to the margins of the occipital foramen. The membranous tube that attaches the thorax to the margins of the occipital foramen.[accessedResource: TGMA:0000005][accessDate: 05-04-2011] The part of an animal that connects the head with the body. The part of an animal that connects the head with the body.[accessedResource: BTO:0000420][accessDate: 05-04-2011] Tomasz Adamusiak adult neck adult neck[accessedResource: TGMA:0000005][accessDate: 05-04-2011] pedicle pedicle[accessedResource: NIFSTD:sao1642908940][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000974 label: neck true obsolete_abdomen 1: The part of the body between the thorax and the pelvis; also: the cavity of this part of the trunk containing the chief viscera.n2: The posterior section of the body behind the thorax in an arthropod. 1: The part of the body between the thorax and the pelvis; also: the cavity of this part of the trunk containing the chief viscera.n2: The posterior section of the body behind the thorax in an arthropod.[accessedResource: BTO:0000020][accessDate: 05-04-2011] Abdominopelvic region Abdominopelvic region[accessedResource: FMAID:9577][accessDate: 05-04-2011] Abdominopelvis Abdominopelvis[accessedResource: FMAID:9577][accessDate: 05-04-2011] BTO:0000020 EV:0100011 FBbt:00000020 FMAID:9577 James Malone MAT:0000298 SAEL:1 Subdivision of trunk proper, which is demarcated from the thorax internally by the inferior surface of the sternocostal part of the diaphragm and externally by the costal margin, from the back of abdomen by the external surface of the posterior abdominal wall, from the perineum by the superior surface of the urogenital diaphragm and from the lower limbs by the inguinal folds; together with the thorax, and perineum, it constitutes the trunk proper. Examples: There is only one abdomen. TGMA:0000524 The most posterior of the three tagma (FBbt:00000002). The most posterior of the three tagma (FBbt:00000002).[accessedResource: FBbt:00000020][accessDate: 05-04-2011] The third large region of the insect body, which originally comprised twelve segments, each segment is usually formed by a dorsal tergite and a ventral sternite and carries on both sides a spiracle, sometimes, both the dorsal and the ventral plates are further subdivided to give rise to latero-tergites and latero-sternites. In the context of Drosophila refers to the most posterior of the three main tagmata or divisions of the body plan, after the head and the thorax. The third, posterior division (tagma) of the insect body. In adult mosquitoes, consisting of ten apparent segments. The third, posterior division (tagma) of the insect body. In adult mosquitoes, consisting of ten apparent segments.[accessedResource: TGMA:0000524][accessDate: 05-04-2011] abdominal cavity adult abdomen adult abdomen[accessedResource: TGMA:0000524][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0000916 label: abdomen 2.38 obsolete_female reproductive system . .[accessedResource: FBbt:00004864][accessDate: 05-04-2011] BTO:0000083 EHDAA:8116 EMAPA:17959 EV:0100110 FBbt:00004864 FMAID:45663 Female genital system[accessedResource: FMAID:45663][accessDate: 05-04-2011] Gonochoristic organism that can produce female gametes. Gonochoristic organism that can produce female gametes.[accessedResource: ZFA:0000303][accessDate: 05-04-2011] James Malone MA:0000381 TADS:0000352 The internal and external reproductive organs in the female. The internal and external reproductive organs in the female.[accessedResource: BTO:0000083][accessDate: 05-04-2011] The reproductive system in women includes the ovaries, the fallopian tubes, the uterus (womb), the cervix, and the vagina (birth canal). XAO:0000156 ZFA:0000303 female genital system female genitalia female organism female organism[accessedResource: ZFA:0000303][accessDate: 05-04-2011] gynaecological tissue systema genitale femininum 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000474 label: female reproductive system obsolete_male reproductive system Accessory Sex Organs, Male Accessory Sex Organs, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011] BTO:0000082 EHDAA:8136 EMAPA:17968 EV:0100101 FMAID:45664 Genital Organs, Male Genital Organs, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011] Genitalia, Male Genitalia, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011] Gonochoristic organism that can produce male gametes. Gonochoristic organism that can produce male gametes.[accessedResource: ZFA:0000242][accessDate: 05-04-2011] James Malone MA:0000396 MAT:0000029 MSH:D005837 Male Genital Organs Male Genital Organs[accessedResource: MSH:D005837][accessDate: 05-04-2011] Male Genitalia Male Genitalia[accessedResource: MSH:D005837][accessDate: 05-04-2011] Male genital system[accessedResource: FMAID:45664][accessDate: 05-04-2011] Organs, Male Genital Organs, Male Genital[accessedResource: MSH:D005837][accessDate: 05-04-2011] Sex Organs, Accessory, Male Sex Organs, Accessory, Male[accessedResource: MSH:D005837][accessDate: 05-04-2011] TADS:0000460 The internal and external reproductive organs in the male. The internal and external reproductive organs in the male.[accessedResource: BTO:0000082][accessDate: 05-04-2011] The male reproductive organs. They are divided into the external organs (PENIS; SCROTUM;and URETHRA) and the internal organs (TESTIS; EPIDIDYMIS; VAS DEFERENS; SEMINAL VESICLES; EJACULATORY DUCTS; PROSTATE; and BULBOURETHRAL GLANDS). The male reproductive organs. They are divided into the external organs (PENIS; SCROTUM;and URETHRA) and the internal organs (TESTIS; EPIDIDYMIS; VAS DEFERENS; SEMINAL VESICLES; EJACULATORY DUCTS; PROSTATE; and BULBOURETHRAL GLANDS).[accessedResource: MSH:D005837][accessDate: 05-04-2011] The reproductive system in men includes the prostate, the testes, and the penis. Tomasz Adamusiak WBbt:0005574 XAO:0000155 ZFA:0000242 male genital organ male genital system male organism male organism[accessedResource: ZFA:0000242][accessDate: 05-04-2011] male[accessedResource: MAT:0000029][accessDate: 05-04-2011] reproductive system - male reproductive system - male[accessedResource: MAT:0000029][accessDate: 05-04-2011] systema genitale masculinum Use http://purl.obolibrary.org/obo/UBERON_0000079 label: male reproductive system 2.38 true obsolete_hermaphrodite gonad James Malone MAT:0000165 OntologyMappingImporter following MAT:0000165 WBbt:0005178 true Use http://purl.obolibrary.org/obo/UBERON_0002537 label: hermaphrodite gonad 2.38 obsolete_unfertilized egg 2.13.1 A female germ cell that has entered meiosis. CL:0000023 FBbt:00015288 James Malone MA:0000388 MAT:0000124 SAEL:114 TGMA:0000124 The lateral expansion of the posterior part of the cibarium. Tomasz Adamusiak ZFA:0009008 duplicate of EFO_0002443 oocyte true animal ovary AAO:0000371 EHDAA:8124 EMAPA:17962 EV:0100111 FBbt:00004865 FMAID:7209 Female reproductive organ. Female reproductive organ.[accessedResource: TAO:0000403][accessDate: 05-04-2011] James Malone MA:0000384 MAT:0000125 SAEL:76 TADS:0000400 TAO:0000403 XAO:0000258 ZFA:0000403 ovaries ovaries[accessedResource: ZFA:0000403][accessDate: 05-04-2011] ovary ovary - animal ovary - animal[accessedResource: MAT:0000125][accessDate: 05-04-2011] ovary[accessedResource: TAO:0000403][accessDate: 05-04-2011] obsolete_oviduct A long slender tube that extends from the upper lateral cornu of the uterus to the region of the ovary of the same side; it is attached to the broad ligament by the mesosalpinx, and consists of an ampulla, an infundibulum, an isthmus, two ostia, and a pars uterina. BTO:0000980 EMAPA:18984 EV:0100112 Either of a pair of slender ducts through which ova pass from the ovaries to the uterus in the female reproductive system of humans and higher mammals. Either of a pair of slender ducts through which ova pass from the ovaries to the uterus in the female reproductive system of humans and higher mammals.[accessedResource: BTO:0000980][accessDate: 05-04-2011] FBbt:00004911 FMAID:18245 Fallopian tube Fallopian tube[accessedResource: FMAID:18245][accessDate: 05-04-2011] James Malone MA:0000385 MAT:0000126 Organ with organ cavity which connects the uterine cavity to the peritoneal cavity. Examples: There are only two uterine tubes, the right and the left uterine tubes. TADS:0000415 TAO:0000560 Uterine tube[accessedResource: FMAID:18245][accessDate: 05-04-2011] ZFA:0000560 oviducts oviducts[accessedResource: ZFA:0000560][accessDate: 05-04-2011] salpinx tuba uterina tuba uterinae uterine tube true Use http://purl.obolibrary.org/obo/UBERON_0000993 label: oviduct 2.38 obsolete_uterus An elongate muscular pouch that is the site of egg fertilization. It is lined with a thin chitinous intima and is connected to the common oviduct anteriorly and the vulva posteriorly. The uterus holds a single egg at a time, with its micropyle near the opening of the seminal receptacle. An elongate muscular pouch that is the site of egg fertilization. It is lined with a thin chitinous intima and is connected to the common oviduct anteriorly and the vulva posteriorly. The uterus holds a single egg at a time, with its micropyle near the opening of the seminal receptacle.[accessedResource: FBbt:00004924][accessDate: 05-04-2011] An organ of the female mammal for containing and usually for nourishing the young during development previous to birth. An organ of the female mammal for containing and usually for nourishing the young during development previous to birth.[accessedResource: BTO:0001424][accessDate: 05-04-2011] BTO:0001424 EMAPA:18985 EV:0100113 FBbt:00004924 FMAID:17558 James Malone MA:0000389 MAT:0000127 Organ with organ cavity which is continuous proximally with the right and left uterine tubes and distally is connected to the vagina. Examples: There is only one uterus. SAEL:119 TADS:0000421 WBbt:0006760 uterine horn uterine horn[accessedResource: MAT:0000127][accessDate: 05-04-2011] uterine horns womb 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000995 label: uterus true obsolete_vagina A canal in a female mammal that leads from the uterus to the external orifice of the genital canal. A canal in a female mammal that leads from the uterus to the external orifice of the genital canal.[accessedResource: BTO:0000243][accessDate: 05-04-2011] An elongate muscular pouch, the anterior part of which is the uterus, where eggs are fertilized, and the posterior part of which, the vulva is the copulatory orifice and site of exit for eggs. An elongate muscular pouch, the anterior part of which is the uterus, where eggs are fertilized, and the posterior part of which, the vulva is the copulatory orifice and site of exit for eggs.[accessedResource: FBbt:00004925][accessDate: 05-04-2011] BTO:0000243 EMAPA:18986 EV:0100117 FBbt:00004925 FMAID:19949 In most female insects, an ectodermal pouch derived from the posteroventral part of abdominal segment VIII (possibly IX in some insects) and sometimes adjacent parts of the abdominal venter; ending anteriorly at the posterior end of the common oviduct. In mosquitoes and some other insects, the roof of the vagina is formed by the venter of abdominal segment IX; partially divided transversely by the spermathecal eminence and sometimes the upper vaginal sclerites. In most female insects, an ectodermal pouch derived from the posteroventral part of abdominal segment VIII (possibly IX in some insects) and sometimes adjacent parts of the abdominal venter; ending anteriorly at the posterior end of the common oviduct. In mosquitoes and some other insects, the roof of the vagina is formed by the venter of abdominal segment IX; partially divided transversely by the spermathecal eminence and sometimes the upper vaginal sclerites.[accessedResource: TGMA:0000607][accessDate: 05-04-2011] James Malone MA:0000394 MAT:0000128 Organ with organ cavity which connects the cervical canal of uterus to the vestibule of vagina. Examples: There is only one vagina. TADS:0000441 TGMA:0000607 bursa copulatrix gemeinsamer Geschlechtsgang genital atrium genital chamber genital chamber[accessedResource: FBbt:00004925][accessDate: 05-04-2011] genital orifice vaginal atrium 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000996 label: vagina true obsolete_spermathecum A bilaterally paired, mushroom-shaped organ consisting of a capsule connected to the uterus by a slender duct. The capsule is an, inverted, double-walled bowl, the outer wall of which is a layer of cuboidal epithelium and the inner wall of which is chitinous intima secreted by the epithelium. After copulation, the lumen of the capsule is filled with a concentrically coiled mass of the spermatozoa. A bilaterally paired, mushroom-shaped organ consisting of a capsule connected to the uterus by a slender duct. The capsule is an, inverted, double-walled bowl, the outer wall of which is a layer of cuboidal epithelium and the inner wall of which is chitinous intima secreted by the epithelium. After copulation, the lumen of the capsule is filled with a concentrically coiled mass of the spermatozoa.[accessedResource: FBbt:00004921][accessDate: 05-04-2011] FBbt:00004921 In most female insects, the usual sperm storage organ; a posteroventral ectodermal caecum of abdominal segment VIII located just behind the common oviduct; attached to the anterodorsal end of the vagina if the latter is developed; usually single but sometimes up to four are present. In mosquitoes, one, two or three may be present, each consisting of a spermathecal capsule at the end of a spermathecal duct. In most female insects, the usual sperm storage organ; a posteroventral ectodermal caecum of abdominal segment VIII located just behind the common oviduct; attached to the anterodorsal end of the vagina if the latter is developed; usually single but sometimes up to four are present. In mosquitoes, one, two or three may be present, each consisting of a spermathecal capsule at the end of a spermathecal duct.[accessedResource: TGMA:0000560][accessDate: 05-04-2011] James Malone MAT:0000168 TADS:0000434 TGMA:0000560 WBbt:0005319 reptaculum seminis seminal receptacle seminal receptacle[accessedResource: MAT:0000168][accessDate: 05-04-2011] spermatheca spermatheca[accessedResource: MAT:0000168][accessDate: 05-04-2011] spermathecae spermathecae[accessedResource: FBbt:00004921][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0000994 label: spermathecum 2.38 vulva BTO:0001055 EV:0100118 FBbt:00004926 FMAID:20462 Female pudendum Female pudendum[accessedResource: FMAID:20462][accessDate: 05-04-2011] James Malone MA:0000395 MAT:0000169 OEC cell Puboperineal region Puboperineal region[accessedResource: FMAID:20462][accessDate: 05-04-2011] The external female genital organs, including the clitoris, vaginal lips, and the opening to the vagina. WBbt:0006748 ovarian epithelial cell ovarian epithelial cell[accessedResource: BTO:0001055][accessDate: 05-04-2011] cervix A constricted portion of an organ or part; especially: the narrow outer end of the uterus. A constricted portion of an organ or part; especially: the narrow outer end of the uterus.[accessedResource: BTO:0001421][accessDate: 05-04-2011] BTO:0001421 Cervical canal Cervical canal of uterus Cervical canal of uterus[accessedResource: FMAID:17740][accessDate: 05-04-2011] Cervical canal[accessedResource: FMAID:17740][accessDate: 05-04-2011] Cervix of uterus[accessedResource: FMAID:17740][accessDate: 05-04-2011] EV:0100114 FMAID:17740 James Malone MAT:0000292 Neck of uterus[accessedResource: FMAID:17740][accessDate: 05-04-2011] SAEL:118 Uterine cervix[accessedResource: FMAID:17740][accessDate: 05-04-2011] cervix of uterus neck of uterus uterine cervix obsolete_endometrium BTO:0001422 EV:0100115 FMAID:17742 James Malone MAT:0000319 The mucous membrane lining the uterus. The mucous membrane lining the uterus.[accessedResource: BTO:0001422][accessDate: 05-04-2011] Tunica mucosa (Endometrium) Tunica mucosa (Endometrium)[accessedResource: FMAID:17742][accessDate: 05-04-2011] uterine endometrium uterine endometrium[accessedResource: BTO:0001422][accessDate: 05-04-2011] uterine mucous membrane true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001295 label: endometrium obsolete_ductus deferens Deferent duct[accessedResource: FMAID:19234][accessDate: 05-04-2011] EMAPA:18681 EV:0100105 FBbt:00004968 FMAID:19234 James Malone MA:0000413 MAT:0000129 SAEL:120 TADS:0000486 Vas deferens WBbt:0005337 deferent duct vas deferens[accessedResource: FBbt:00004968][accessDate: 05-04-2011] vasa deferentia vasa deferentia[accessedResource: MAT:0000129][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001000 label vas deferens 2.38 obsolete_epididymus A system of ductules emerging posteriorly from the testis that holds sperm during maturation and that forms a tangled mass before uniting into a single coiled duct which is continuous with the vas deferens. A system of ductules emerging posteriorly from the testis that holds sperm during maturation and that forms a tangled mass before uniting into a single coiled duct which is continuous with the vas deferens.[accessedResource: BTO:0000408][accessDate: 05-04-2011] BTO:0000408 EMAPA:19290 EV:0100103 Epididymis Epididymis[accessedResource: FMAID:18255][accessDate: 05-04-2011] FMAID:18255 James Malone MA:0000397 MAT:0000130 SAEL:36 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001301 label: epididymis obsolete_testis A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity. A typically paired male reproductive gland that produces sperm and that in most mammals is contained within the scrotum at sexual maturity.[accessedResource: BTO:0001363][accessDate: 05-04-2011] BTO:0001363 James Malone MA:0002765 SAEL:93 WBbt:0005321 male gonad orchis testicle testiculus true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000473 label: testis obsolete_ejaculatory duct BTO:0001580 EMAPA:19088 Either of the paired ducts in the human male that are formed by the junction of the duct from the seminal vesicle with the vas deferens, pass through the prostate, and open into or close to the prostatic utricle. Either of the paired ducts in the human male that are formed by the junction of the duct from the seminal vesicle with the vas deferens, pass through the prostate, and open into or close to the prostatic utricle.[accessedResource: BTO:0001580][accessDate: 05-04-2011] FBbt:00004965 FMAID:19325 James Malone MAT:0000170 TADS:0000489 ductus ejaculatorius 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000999 label: ejaculatory duct true obsolete_seminal vesicle BTO:0001234 EV:0100106 Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct. Either of a pair of glandular pouches that lie one on either side of the male reproductive tract and in the human male secrete a sugar- and protein-containing fluid into the ejaculatory duct.[accessedResource: BTO:0001234][accessDate: 05-04-2011] FBbt:00004958 FMAID:19386 James Malone MAT:0000171 Seminal gland[accessedResource: FMAID:19386][accessDate: 05-04-2011] glandula seminalis glandula vesiculosa seminal gland vas efferens vesicula seminalis 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000998 label: seminal vesicle true obsolete_penis A male organ of copulation that in male mammals including humans usually functions as the channel by which urine leaves the body. A male organ of copulation that in male mammals including humans usually functions as the channel by which urine leaves the body.[accessedResource: BTO:0000405][accessDate: 05-04-2011] BTO:0000405 Distal part of the aedeagus consisting of a median, scleratised, pointed lobe through which the ejaculatory duct discharges. Distal part of the aedeagus consisting of a median, scleratised, pointed lobe through which the ejaculatory duct discharges.[accessedResource: FBbt:00004852][accessDate: 05-04-2011] EHDAA:9380 EMAPA:18682 EV:0100107 FBbt:00004852 FMAID:9707 James Malone MA:0000408 MAT:0000186 SAEL:80 phallus 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000989 label: penis true gametophyte BTO:0000495 James Malone MAT:0000004 PO:0009004 The individual or generation of a plant exhibiting alternation of generations that bears sex organs. The individual or generation of a plant exhibiting alternation of generations that bears sex organs.[accessedResource: BTO:0000495][accessDate: 05-04-2011] ZEA:0015175 root structure BTO:0001188 GRO:0005338 James Malone MAT:0000005 PO:0009005 The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves. The usually underground part of a seed plant body that originates usually from the hypocotyl, functions as an organ of absorption, aeration, and food storage or as a means of anchorage and support, and differs from a stem especially in lacking nodes, buds, and leaves.[accessedResource: BTO:0001188][accessDate: 05-04-2011] ZEA:0015034 root meristem A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs. A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs.[accessedResource: BTO:0000852][accessDate: 05-04-2011] BTO:0000852 James Malone MAT:0000006 Meristem is a plant component consisting of undifferentiated plant issue - the botanical equivalent of animal stem cells. PO:0009013 Undifferentiated plant issue - the botanical equivalent of animal stem cells Undifferentiated plant issue - the botanical equivalent of animal stem cells[accessedResource: MAT:0000006][accessDate: 05-04-2011] seed structure A matured ovule containing an embryo and food supply and covered by a seed coat. A matured ovule containing an embryo and food supply and covered by a seed coat.[accessedResource: BTO:0001226][accessDate: 05-04-2011] BTO:0001226 GRO:0005339 James Malone MAT:0000008 PO:0009010 ZEA:0015178 seed seed[accessedResource: BTO:0001226][accessDate: 05-04-2011] shoot A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature. A sending out of new growth or the growth sent out: as a stem or branch with its leaves and appendages especially when not yet mature.[accessedResource: BTO:0001243][accessDate: 05-04-2011] BTO:0001243 GRO:0005300 James Malone MAT:0000009 ZEA:0015180 shoot axis leaf A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis. A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis.[accessedResource: BTO:0000713][accessDate: 05-04-2011] BTO:0000713 GRO:0005306 James Malone MAT:0000234 PO:0009025 ZEA:0015031 plant fluid James Malone MAT:0000347 fluid - plant fluid - plant[accessedResource: MAT:0000347][accessDate: 05-04-2011] gall tissue James Malone MAT:0000351 vascular tissue BTO:0001432 James Malone MAT:0000362 PO:0009015 The supportive and conductive tissue in plants, consisting of xylem and phloem. The supportive and conductive tissue in plants, consisting of xylem and phloem.[accessedResource: BTO:0001432][accessDate: 05-04-2011] storage organ James Malone MAT:0000366 plant reproductive system structure James Malone MAT:0000514 reproductive system - plant reproductive system - plant[accessedResource: MAT:0000514][accessDate: 05-04-2011] plant developmental tissue James Malone MAT:0000518 developmental tissue - plant developmental tissue - plant[accessedResource: MAT:0000518][accessDate: 05-04-2011] pollen tube BTO:0001276 James Malone MAT:0000217 PO:0006345 The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes. The slender tube formed by the pollen grain that penetrates an ovule and releases the male gametes.[accessedResource: BTO:0001276][accessDate: 05-04-2011] plant sperm A mature male germ cell that develops from a spermatid. James Malone MAT:0000218 PO:0000084 Tomasz Adamusiak sperm[accessedResource: MAT:0000218][accessDate: 05-04-2011] thallus A plant body that is characteristic of thallophytes , lacks differentiation into distinct members (as stem, leaves, and roots), and does not grow from an apical point. A plant body that is characteristic of thallophytes , lacks differentiation into distinct members (as stem, leaves, and roots), and does not grow from an apical point.[accessedResource: BTO:0001366][accessDate: 05-04-2011] BTO:0001366 James Malone MAT:0000248 a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves a primitive plant body of gametophytes that has not differentiated into roots, stems or leaves[accessedResource: MAT:0000248][accessDate: 05-04-2011] phyllid James Malone MAT:0000276 leaf of a moss or liverwort leaf of a moss or liverwort[accessedResource: MAT:0000276][accessDate: 05-04-2011] rhizome A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves. A somewhat elongate usually horizontal subterranean plant stem that is often thickened by deposits of reserve food material, produces shoots above and roots below, and is distinguished from a true root in possessing buds, nodes, and usually scalelike leaves.[accessedResource: BTO:0001181][accessDate: 05-04-2011] BTO:0001181 GRO:0005811 James Malone MAT:0000219 PO:0004542 apical root meristem James Malone MAT:0000220 OntologyMappingImporter following MAT:0000220 PO:0020147 ZEA:0015150 root meristem - apical root meristem - apical[accessedResource: MAT:0000220][accessDate: 05-04-2011] root apical meristem lateral root meristem James Malone MAT:0000221 OntologyMappingImporter following MAT:0000221 PO:0006308 ZEA:0015158 root meristem - lateral root meristem - lateral[accessedResource: MAT:0000221][accessDate: 05-04-2011] taproot BTO:0002615 James Malone MAT:0000222 The fascia dentata is the earliest stage of the hippocampal circuit. The fascia dentata and the hilus together make up the dentate gyrus. The fascia dentata is the earliest stage of the hippocampal circuit. The fascia dentata and the hilus together make up the dentate gyrus.[accessedResource: BTO:0002615][accessDate: 05-04-2011] The main root of a plant, usually stouter than the lateral roots and growing straight downward from the stem. ZEA:0015061 fascia dentata fascia dentata[accessedResource: BTO:0002615][accessDate: 05-04-2011] primary root root hair A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots. A filamentous extension of an epidermal cell near the tip of a rootlet that functions in absorption of water and minerals;nSpecialized unicellular trichome found in roots.[accessedResource: BTO:0001804][accessDate: 05-04-2011] BTO:0001804 James Malone MAT:0000352 PO:0000256 root nodule BTO:0001190 Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria. Gall-like structures on the roots of legumes that contain symbiotic nitrogen-fixing bacteria.[accessedResource: BTO:0001190][accessDate: 05-04-2011] James Malone MAT:0000353 PO:0003023 nodule root cap A thimble-shaped group of cells found at the tip of roots; it functions to protect the meristem. A thimble-shaped group of cells found at the tip of roots; it functions to protect the meristem.[accessedResource: BTO:0000039][accessDate: 05-04-2011] BTO:0000039 GRO:0005429 James Malone MAT:0000357 PO:0020123 tuber A short fleshy usually underground stem bearing minute scale leaves each of which bears a bud in its axil and is potentially able to produce a new plant. A short fleshy usually underground stem bearing minute scale leaves each of which bears a bud in its axil and is potentially able to produce a new plant.[accessedResource: BTO:0001400][accessDate: 05-04-2011] BTO:0001400 James Malone MAT:0000358 PO:0004543 cambium A thin formative layer between the xylem and phloem of most vascular plants that gives rise to new cells and is responsible for secondary growth;nA lateral meristem in vascular plants, including the vascular cambium and cork cambium, that forms parallel rows of cells resulting in secondary tissues. A thin formative layer between the xylem and phloem of most vascular plants that gives rise to new cells and is responsible for secondary growth;nA lateral meristem in vascular plants, including the vascular cambium and cork cambium, that forms parallel rows of cells resulting in secondary tissues.[accessedResource: BTO:0000170][accessDate: 05-04-2011] BTO:0000170 GRO:0005597 James Malone MAT:0000223 PO:0005597 The layer of active cells between xylem and phloem that gives rise to secondary tissues (e.g. bark) The layer of active cells between xylem and phloem that gives rise to secondary tissues (e.g. bark)[accessedResource: MAT:0000223][accessDate: 05-04-2011] apical shoot meristem James Malone MAT:0000224 OntologyMappingImporter following MAT:0000224 PO:0020148 ZEA:0015151 shoot meristem - apical shoot meristem - apical[accessedResource: MAT:0000224][accessDate: 05-04-2011] lateral shoot meristem James Malone MAT:0000225 OntologyMappingImporter following MAT:0000225 PO:0006344 shoot meristem - lateral shoot meristem - lateral[accessedResource: MAT:0000225][accessDate: 05-04-2011] radicle BTO:0001152 James Malone MAT:0000415 PO:0020031 The lower part of the axis of a plant embryo or seedling. The lower part of the axis of a plant embryo or seedling.[accessedResource: BTO:0001152][accessDate: 05-04-2011] endosperm A triploid nutritive tissue resulting from the fusion of a haploid sperm nucleus with the two haploid polar nuclei in the ovule of angiosperms. A triploid nutritive tissue resulting from the fusion of a haploid sperm nucleus with the two haploid polar nuclei in the ovule of angiosperms.[accessedResource: BTO:0000390][accessDate: 05-04-2011] BTO:0000390 GRO:0005361 James Malone MAT:0000227 PO:0009089 seed coat BTO:0001227 GRO:0005359 James Malone MAT:0000228 PO:0009088 The outer layer of a seed that is developed from the integuments of the ovule; the testa. The outer layer of a seed that is developed from the integuments of the ovule; the testa.[accessedResource: BTO:0001227][accessDate: 05-04-2011] tegmen testa cotyledon A seed leaf; the first leaf formed in a seed. A seed leaf; the first leaf formed in a seed.[accessedResource: BTO:0000300][accessDate: 05-04-2011] BTO:0000300 GRO:0005358 James Malone MAT:0000359 PO:0020030 bud Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation. Any small part of the embryo or adult metazoon more or less resembling the bud of a plant and presumed to have potential for growth and differentiation.[accessedResource: BTO:0001639][accessDate: 05-04-2011] BTO:0001639 James Malone MAT:0000229 PO:0000055 flower structure BTO:0000469 GRO:0005367 James Malone MAT:0000231 PO:0009046 The reproductive structure of the anthophyta or angiosperms. The reproductive structure of the anthophyta or angiosperms.[accessedResource: BTO:0000469][accessDate: 05-04-2011] flower flower[accessedResource: BTO:0000469][accessDate: 05-04-2011] petal BTO:0001040 GRO:0005667 James Malone MAT:0000354 PO:0009032 The often showy flower component attached just inside the sepals; petals are usually colorful to attract pollinators. The often showy flower component attached just inside the sepals; petals are usually colorful to attract pollinators.[accessedResource: BTO:0001040][accessDate: 05-04-2011] sepal BTO:0001547 GRO:0005655 James Malone MAT:0000355 One of the modified leaves comprising a calyx. One of the modified leaves comprising a calyx.[accessedResource: BTO:0001547][accessDate: 05-04-2011] PO:0009031 tepal A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies. A division of the perianth of a flower having a virtually indistinguishable calyx and corolla, as in tulips and lilies.[accessedResource: BTO:0001728][accessDate: 05-04-2011] BTO:0001728 GRO:0005131 James Malone MAT:0000356 PO:0009033 fruit BTO:0000486 GRO:0005250 James Malone MAT:0000232 PO:0009001 The mature ovary or ovaries of a seed-bearing plant, together with accessory parts, containing the seeds and occurring in a wide variety of forms. The mature ovary or ovaries of a seed-bearing plant, together with accessory parts, containing the seeds and occurring in a wide variety of forms.[accessedResource: BTO:0000486][accessDate: 05-04-2011] silique inflorescence A flower cluster with a definite arrangement. A flower cluster with a definite arrangement.[accessedResource: BTO:0000628][accessDate: 05-04-2011] BTO:0000628 GRO:0005317 James Malone PO:0009049 panicle RNAi profiling by array ArrayExpress production team James Malone RNAi profiling is an assay in which double stranded RNA is synthesized with a sequence complementary to a gene(s) of interest and introduced into a cell or organism, where it is recognized as exogenous genetic material and activates the RNAi pathway resulting in knockdown of the transcripts and providing a means to study downstream changes in gene expression. tiling path by array An assay in which a tiling path array (where probes are arrayed covering target regions e.g. a genome or chromosome at very high density) is used to identify transcribed regions. ArrayExpress production team James Malone Tiling path by array transcription profiling An assay in which the transcriptome of a biological sample is analysed. ArrayExpress production team James Malone Transcription profiling translation profiling An assay in which surface-bound, translationally competent ribosome complexes are used to generate a translation profile for mRNA, which mRNA may be a single molecular species, or a combination of species, including complex mixtures such as those found in the set of mRNAs isolated from a cell or tissue. One or more components of the surface-bound ribosome complex may be labeled at specific positions to permit analysis of multiple or single molecules for determination of ribosomal conformational changes and translation kinetics. Translation profiles are used as the basis for comparison of an mRNA or set of mRNA species. The translation profile can be used to determine such characteristics as kinetics of initiation, kinetic of elongation, identity of the polypeptide product, and the like. Analysis of translation profiles may be used to determine differential gene expression, optimization of mRNA sequences for expression, screening drug candidates for an effect on translation. James Malone United States Patent 20040023256 Translation profiling male inflorescence James Malone PO:0020136 ZEA:0015085 female inflorescence James Malone PO:0020126 ZEA:0015084 obsolete_phyllid 1.8 A lateral outgrowth from a plant stem that is typically a flattened expanded variably shaped greenish organ, constitutes a unit of the foliage, and functions primarily in food manufacture by photosynthesis. BTO:0000713 James Malone MAT:0000276 duplication leaf of a moss or liverwort true leaf vascular tissue James Malone stomatal complex BTO:0000052 GRO:0005350 James Malone MAT:0000346 PO:0002000 The epidermal complex consisting of two guard cells and the pore between them. The epidermal complex consisting of two guard cells and the pore between them.[accessedResource: BTO:0000052][accessDate: 05-04-2011] stoma stoma[accessedResource: BTO:0000052][accessDate: 05-04-2011] seedhead James Malone MAT:0000237 stem BTO:0001300 James Malone MAT:0000239 PO:0009047 The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots. The main trunk of a plant; specifically: a primary plant axis that develops buds and shoots instead of roots.[accessedResource: BTO:0001300][accessDate: 05-04-2011] axis culm stalk bark BTO:0001301 James Malone MAT:0000360 PO:0004518 The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm. The tough exterior covering of a woody root or stem; specifically: the tissues outside the cambium that include an inner layer especially of secondary phloem and an outer layer of periderm.[accessedResource: BTO:0001301][accessDate: 05-04-2011] xylem A complex tissue in the vascular system of higher plants that consists of vessels, tracheids, or both usually together with wood fibers and parenchyma cells, functions chiefly in conduction of water and dissolved minerals but also in support and food storage, and typically constitutes the woody element (as of a plant stem). A complex tissue in the vascular system of higher plants that consists of vessels, tracheids, or both usually together with wood fibers and parenchyma cells, functions chiefly in conduction of water and dissolved minerals but also in support and food storage, and typically constitutes the woody element (as of a plant stem).[accessedResource: BTO:0001468][accessDate: 05-04-2011] BTO:0001468 GRO:0005352 James Malone MAT:0000363 PO:0005352 wood wood parenchyma James Malone MAT:0000365 OntologyMappingImporter following MAT:0000365 PO:0004525 phloem A complex tissue in the vascular system of higher plants that consists mainly of sieve tubes and elongated parenchyma cells usually with fibers and that functions in translocation and in support and storage. A complex tissue in the vascular system of higher plants that consists mainly of sieve tubes and elongated parenchyma cells usually with fibers and that functions in translocation and in support and storage.[accessedResource: BTO:0001058][accessDate: 05-04-2011] BTO:0001058 GRO:0005417 James Malone MAT:0000364 PO:0005417 apoplasm James Malone MAT:0000348 The fluid between the cell wall and the plasma membrane The fluid between the cell wall and the plasma membrane[accessedResource: MAT:0000348][accessDate: 05-04-2011] apoplast apoplast[accessedResource: MAT:0000348][accessDate: 05-04-2011] nectar A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey. A sweet liquid that is secreted by the nectaries of a plant and is the chief raw material of honey.[accessedResource: BTO:0000537][accessDate: 05-04-2011] BTO:0000537 James Malone MAT:0000349 sap James Malone MAT:0000350 bulb A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves. A resting stage of a plant (as the lily, onion, hyacinth, or tulip) that is usually formed underground and consists of a short stem base bearing one or more buds enclosed in overlapping membranous or fleshy leaves.[accessedResource: BTO:0000159][accessDate: 05-04-2011] BTO:0000159 James Malone MAT:0000367 corm A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure. A rounded thick modified underground stem base bearing membranous or scaly leaves and buds and acting as a vegetative reproductive structure.[accessedResource: BTO:0000285][accessDate: 05-04-2011] BTO:0000285 GRO:0005787 James Malone MAT:0000368 stamen BTO:0001559 GRO:0005583 James Malone MAT:0000515 PO:0009029 The floral organ that produces pollen; consisting of an anther and filament. The floral organ that produces pollen; consisting of an anther and filament.[accessedResource: BTO:0001559][accessDate: 05-04-2011] ZEA:0015134 carpel BTO:0000072 GRO:0005441 James Malone MAT:0000516 PO:0009030 The female reproductive part of a flower, consisting of stigma, style, and ovary. The female reproductive part of a flower, consisting of stigma, style, and ovary.[accessedResource: BTO:0000072][accessDate: 05-04-2011] pistil plant ovary BTO:0000750 James Malone MAT:0000517 PO:0009072 The enlarged rounded usually basal portion of the pistil or gynoecium of an angiospermous plant that bears the ovules and consists of one or more carpels. The enlarged rounded usually basal portion of the pistil or gynoecium of an angiospermous plant that bears the ovules and consists of one or more carpels.[accessedResource: BTO:0000750][accessDate: 05-04-2011] ovary - plant ovary - plant[accessedResource: MAT:0000517][accessDate: 05-04-2011] stigma BTO:0001303 GRO:0005433 James Malone MAT:0000524 PO:0009073 The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate. The usually apical part of the pistil of a flower which receives the pollen grains and on which they germinate.[accessedResource: BTO:0001303][accessDate: 05-04-2011] leprosy A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid. A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid.[accessedResource: MSH:D007918][accessDate: 05-04-2011] DOID:1024 Disease, Hansen Disease, Hansen's Disease, Hansen's[accessedResource: MSH:D007918][accessDate: 05-04-2011] Disease, Hansen[accessedResource: MSH:D007918][accessDate: 05-04-2011] GeneRIF:12447749 GeneRIF:12646604 GeneRIF:14737177 GeneRIF:15072129 GeneRIF:15306847 GeneRIF:15356162 GeneRIF:15755200 GeneRIF:15880118 HANSEN DIS HANSEN DIS[accessedResource: MSH:D007918][accessDate: 05-04-2011] HANSENS DIS HANSENS DIS[accessedResource: MSH:D007918][accessDate: 05-04-2011] Hansen Disease Hansen Disease[accessedResource: MSH:D007918][accessDate: 05-04-2011] Hansen's Disease Hansen's disease[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011] Hansens Disease Hansens Disease[accessedResource: MSH:D007918][accessDate: 05-04-2011] ICD9:030 ICD9:030.8 ICD9:030.9 Infection due to Mycobacterium leprae Infection due to Mycobacterium leprae[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011] James Malone LEPROSY NEC LEPROSY NEC[accessedResource: ICD9:030.8][accessDate: 05-04-2011] LEPROSY NOS LEPROSY NOS[accessedResource: ICD9:030.9][accessDate: 05-04-2011] Leprosies Leprosies[accessedResource: MSH:D007918][accessDate: 05-04-2011] Leprosy (disorder) Leprosy (disorder)[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011] Leprosy NOS (disorder) Leprosy NOS (disorder)[accessedResource: SNOMEDCT:186339006][accessDate: 05-04-2011] Leprosy, NOS Leprosy, NOS[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011] Leprosy, unspecified Leprosy, unspecified[accessedResource: ICD9:030.9][accessDate: 05-04-2011] MSH:D007918 Mycobacterium leprae infection Mycobacterium leprae infection[accessedResource: SNOMEDCT:81004002][accessDate: 05-04-2011] Other specified leprosy Other specified leprosy[accessedResource: ICD9:030.8][accessDate: 05-04-2011] SNOMEDCT:186339006 SNOMEDCT:187316006 SNOMEDCT:81004002 Tomasz Adamusiak [X]Leprosy, unspecified [X]Leprosy, unspecified (disorder) [X]Leprosy, unspecified (disorder)[accessedResource: SNOMEDCT:187316006][accessDate: 05-04-2011] [X]Leprosy, unspecified[accessedResource: SNOMEDCT:187316006][accessDate: 05-04-2011] true borderline leprosy A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms. A form of LEPROSY in which there are clinical manifestations of both principal types (lepromatous and tuberculoid). The disease may shift toward one of these two polar or principal forms.[accessedResource: MSH:D015439][accessDate: 05-04-2011] BB - Borderline leprosy BB - Borderline leprosy[accessedResource: SNOMEDCT:400154003][accessDate: 05-04-2011] Borderline Leprosies Borderline Leprosies[accessedResource: MSH:D015439][accessDate: 05-04-2011] Borderline leprosy (disorder) Borderline leprosy (disorder)[accessedResource: DOID:1023][accessDate: 05-04-2011] Borderline leprosy [group B] Borderline leprosy [group B][accessedResource: DOID:1023][accessDate: 05-04-2011] Borderline or dimorphous leprosy Borderline or dimorphous leprosy[accessedResource: DOID:1023][accessDate: 05-04-2011] DOID:1023 Dimorphous Leprosies Dimorphous Leprosies[accessedResource: MSH:D015439][accessDate: 05-04-2011] Dimorphous Leprosy Dimorphous Leprosy[accessedResource: MSH:D015439][accessDate: 05-04-2011] Group B leprosy Group B leprosy[accessedResource: SNOMEDCT:400008009][accessDate: 05-04-2011] ICD9:030.3 James Malone Leprosies, Borderline Leprosies, Borderline[accessedResource: MSH:D015439][accessDate: 05-04-2011] Leprosies, Dimorphous Leprosies, Dimorphous[accessedResource: MSH:D015439][accessDate: 05-04-2011] Leprosy, Borderline Leprosy, Borderline[accessedResource: MSH:D015439][accessDate: 05-04-2011] Leprosy, Dimorphous Leprosy, Dimorphous[accessedResource: MSH:D015439][accessDate: 05-04-2011] MSH:D015439 Midborderline leprosy Midborderline leprosy (disorder) Midborderline leprosy (disorder)[accessedResource: DOID:1023][accessDate: 05-04-2011] Midborderline leprosy[accessedResource: SNOMEDCT:400154003][accessDate: 05-04-2011] SNOMEDCT:400008009 SNOMEDCT:400154003 Type BB leprosy Type BB leprosy[accessedResource: SNOMEDCT:400154003][accessDate: 05-04-2011] tuberculoid leprosy A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others. A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.[accessedResource: MSH:D015441][accessDate: 05-04-2011] DOID:1025 Full tuberculoid leprosy Full tuberculoid leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011] ICD9:030.1 James Malone Leprosies, Macular Leprosies, Macular[accessedResource: MSH:D015441][accessDate: 05-04-2011] Leprosies, Neural Leprosies, Neural[accessedResource: MSH:D015441][accessDate: 05-04-2011] Leprosies, Tuberculoid Leprosies, Tuberculoid[accessedResource: MSH:D015441][accessDate: 05-04-2011] Leprosy, Macular Leprosy, Macular[accessedResource: MSH:D015441][accessDate: 05-04-2011] Leprosy, Neural Leprosy, Neural[accessedResource: MSH:D015441][accessDate: 05-04-2011] Leprosy, Tuberculoid Leprosy, Tuberculoid[accessedResource: MSH:D015441][accessDate: 05-04-2011] MSH:D015441 Macular Leprosies Macular Leprosies[accessedResource: MSH:D015441][accessDate: 05-04-2011] Macular Leprosy Macular Leprosy[accessedResource: MSH:D015441][accessDate: 05-04-2011] Neural Leprosies Neural Leprosies[accessedResource: MSH:D015441][accessDate: 05-04-2011] Neural Leprosy Neural Leprosy[accessedResource: MSH:D015441][accessDate: 05-04-2011] Nodular leprosy Nodular leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011] SNOMEDCT:70143003 Smooth leprosy Smooth leprosy[accessedResource: DOID:1025][accessDate: 05-04-2011] TT - Full tuberculoid leprosy TT - Full tuberculoid leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011] Tuberculoid Leprosies Tuberculoid Leprosies[accessedResource: MSH:D015441][accessDate: 05-04-2011] Tuberculoid leprosy (disorder) Tuberculoid leprosy (disorder)[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011] Tuberculoid leprosy [type T] Tuberculoid leprosy [type T][accessedResource: ICD9:030.1][accessDate: 05-04-2011] Type TT leprosy Type TT leprosy[accessedResource: SNOMEDCT:70143003][accessDate: 05-04-2011] type T leprosy type T leprosy[accessedResource: DOID:1025][accessDate: 05-04-2011] lepromatous leprosy A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage. A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.[accessedResource: MSH:D015440][accessDate: 05-04-2011] Cutaneous Leprosies Cutaneous Leprosies[accessedResource: MSH:D015440][accessDate: 05-04-2011] Cutaneous Leprosy Cutaneous Leprosy[accessedResource: MSH:D015440][accessDate: 05-04-2011] DOID:10887 Full lepromatous leprosy Full lepromatous leprosy[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011] GeneRIF:12445799 GeneRIF:12743658 GeneRIF:15726416 ICD9:030.0 James Malone LL - Full lepromatous leprosy LL - Full lepromatous leprosy[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011] Lepromatous Leprosies Lepromatous Leprosies[accessedResource: MSH:D015440][accessDate: 05-04-2011] Lepromatous leprosy (disorder) Lepromatous leprosy (disorder)[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011] Lepromatous leprosy [type L] Lepromatous leprosy [type L][accessedResource: ICD9:030.0][accessDate: 05-04-2011] Leprosies, Cutaneous Leprosies, Cutaneous[accessedResource: MSH:D015440][accessDate: 05-04-2011] Leprosies, Lepromatous Leprosies, Lepromatous[accessedResource: MSH:D015440][accessDate: 05-04-2011] Leprosies, Nodular Leprosies, Nodular[accessedResource: MSH:D015440][accessDate: 05-04-2011] Leprosy, Cutaneous Leprosy, Cutaneous[accessedResource: MSH:D015440][accessDate: 05-04-2011] Leprosy, Lepromatous Leprosy, Lepromatous[accessedResource: MSH:D015440][accessDate: 05-04-2011] Leprosy, Nodular Leprosy, Nodular[accessedResource: MSH:D015440][accessDate: 05-04-2011] MSH:D015440 Nodular Leprosies Nodular Leprosies[accessedResource: MSH:D015440][accessDate: 05-04-2011] Nodular Leprosy Nodular Leprosy[accessedResource: MSH:D015440][accessDate: 05-04-2011] SNOMEDCT:21560005 Type L leprosy Type LL leprosy Type LL leprosy[accessedResource: SNOMEDCT:21560005][accessDate: 05-04-2011] type L leprosy[accessedResource: DOID:10887][accessDate: 05-04-2011] sensory system disease A sensory system disease is a disease which has as location the sensory system. James Malone cataract CATARACT NEC CATARACT NEC[accessedResource: ICD9:366.8][accessDate: 05-04-2011] CATARACT W RADIATION CATARACT W RADIATION[accessedResource: ICD9:366.46][accessDate: 05-04-2011] CATARACT W SYNDROME NEC CATARACT W SYNDROME NEC[accessedResource: ICD9:366.44][accessDate: 05-04-2011] Cat. - Cataract Cat. - Cataract[accessedResource: SNOMEDCT:193570009][accessDate: 05-04-2011] Cataract (M-54510) Cataract (M-54510)[accessedResource: SNOMEDCT:128306009][accessDate: 05-04-2011] Cataract (disorder) Cataract (disorder)[accessedResource: SNOMEDCT:193570009][accessDate: 05-04-2011] Cataract (morphologic abnormality) Cataract (morphologic abnormality)[accessedResource: SNOMEDCT:128306009][accessDate: 05-04-2011] Cataract NOS Cataract NOS (disorder) Cataract NOS (disorder)[accessedResource: SNOMEDCT:193623003][accessDate: 05-04-2011] Cataract NOS[accessedResource: SNOMEDCT:193623003][accessDate: 05-04-2011] Cataract associated with other disorders Cataract associated with other disorders[accessedResource: ICD9:366.4][accessDate: 05-04-2011] Cataract associated with other syndromes Cataract associated with other syndromes (disorder) Cataract associated with other syndromes (disorder)[accessedResource: SNOMEDCT:193608008][accessDate: 05-04-2011] Cataract associated with other syndromes[accessedResource: ICD9:366.44][accessDate: 05-04-2011] Cataract associated with radiation and other physical influences Cataract associated with radiation and other physical influences[accessedResource: ICD9:366.46][accessDate: 05-04-2011] Cataract form Cataract form (observable entity) Cataract form (observable entity)[accessedResource: SNOMEDCT:247053007][accessDate: 05-04-2011] Cataract form[accessedResource: SNOMEDCT:247053007][accessDate: 05-04-2011] Cataract, Membranous Cataract, Membranous[accessedResource: MSH:D002386][accessDate: 05-04-2011] Cataracts Cataracts, Membranous Cataracts, Membranous[accessedResource: MSH:D002386][accessDate: 05-04-2011] Cataracts[accessedResource: MSH:D002386][accessDate: 05-04-2011] DOID:83 GeneRIF:11864421 GeneRIF:11904300 GeneRIF:11955914 GeneRIF:12079281 GeneRIF:12089525 GeneRIF:12356818 GeneRIF:12360425 GeneRIF:12426373 GeneRIF:12475213 GeneRIF:12485166 GeneRIF:12620964 GeneRIF:12724621 GeneRIF:12942049 GeneRIF:12944971 GeneRIF:15004872 GeneRIF:15016766 GeneRIF:15041957 GeneRIF:15064679 GeneRIF:15101113 GeneRIF:15208569 GeneRIF:15249368 GeneRIF:15277496 GeneRIF:15286169 GeneRIF:15322286 GeneRIF:15342707 GeneRIF:15347804 GeneRIF:15452067 GeneRIF:15570218 GeneRIF:15623749 GeneRIF:15709761 GeneRIF:16179416 GeneRIF:16310481 GeneRIF:9813099 ICD9:366 ICD9:366.4 ICD9:366.44 ICD9:366.46 ICD9:366.8 ICD9:366.9 James Malone Lens Opacities Lens Opacities[accessedResource: MSH:D002386][accessDate: 05-04-2011] Lens Opacity Lens Opacity[accessedResource: MSH:D002386][accessDate: 05-04-2011] Lenticular opacity Lenticular opacity[accessedResource: SNOMEDCT:193570009][accessDate: 05-04-2011] MSH:D002386 Membranous Cataract Membranous Cataract[accessedResource: MSH:D002386][accessDate: 05-04-2011] Membranous Cataracts Membranous Cataracts[accessedResource: MSH:D002386][accessDate: 05-04-2011] NCIt:C26713 OMIM:116100 Opacities, Lens Opacities, Lens[accessedResource: MSH:D002386][accessDate: 05-04-2011] Opacity, Lens Opacity, Lens[accessedResource: MSH:D002386][accessDate: 05-04-2011] Other cataract Other cataract (disorder) Other cataract (disorder)[accessedResource: SNOMEDCT:193620000][accessDate: 05-04-2011] Other cataract NOS Other cataract NOS (disorder) Other cataract NOS (disorder)[accessedResource: SNOMEDCT:193622008][accessDate: 05-04-2011] Other cataract NOS[accessedResource: SNOMEDCT:193622008][accessDate: 05-04-2011] Other cataract[accessedResource: ICD9:366.8][accessDate: 05-04-2011] Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.) Partial or complete opacity of the crystalline lens of one or both eyes that decreases visual acuity and eventually results in blindness. Some cataracts appear in infancy or in childhood, but most develop in older individuals. (Sternberg Diagnostic Surgical Pathology, 3rd ed.)[accessedResource: NCIt:C26713][accessDate: 05-04-2011] Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed) Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)[accessedResource: MSH:D002386][accessDate: 05-04-2011] Pseudoaphakia Pseudoaphakia[accessedResource: MSH:D002386][accessDate: 05-04-2011] Pseudoaphakias Pseudoaphakias[accessedResource: MSH:D002386][accessDate: 05-04-2011] SNOMEDCT:128306009 SNOMEDCT:193570009 SNOMEDCT:193608008 SNOMEDCT:193620000 SNOMEDCT:193622008 SNOMEDCT:193623003 SNOMEDCT:247053007 Tomasz Adamusiak Unspecified cataract Unspecified cataract[accessedResource: ICD9:366.9][accessDate: 05-04-2011] cataracts true celiac disease A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. A food allergy that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.[accessedResource: DOID:10608][accessDate: 05-04-2011] A food hypersensitivity that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION. A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.[accessedResource: MSH:D002446][accessDate: 05-04-2011] CD - Celiac disease CD - Celiac disease[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] CD - Coeliac disease CD - Coeliac disease[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] CELIAC DIS CELIAC DIS[accessedResource: MSH:D002446][accessDate: 05-04-2011] CS - Celiac sprue CS - Celiac sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] CS - Coeliac sprue CS - Coeliac sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Celiac Sprue Celiac Sprue[accessedResource: MSH:D002446][accessDate: 05-04-2011] Celiac disease (disorder) Celiac disease (disorder)[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Celiac disease NOS Celiac disease NOS (disorder) Celiac disease NOS (disorder)[accessedResource: DOID:10608][accessDate: 05-04-2011] Celiac disease NOS[accessedResource: SNOMEDCT:197481005][accessDate: 05-04-2011] Celiac rickets Celiac rickets (disorder) Celiac rickets (disorder)[accessedResource: SNOMEDCT:275404008][accessDate: 05-04-2011] Celiac rickets[accessedResource: SNOMEDCT:275404008][accessDate: 05-04-2011] Celiac syndrome Celiac syndrome[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Coeliac disease Coeliac disease NOS Coeliac disease NOS[accessedResource: SNOMEDCT:197481005][accessDate: 05-04-2011] Coeliac disease [Ambiguous] Coeliac disease [Ambiguous][accessedResource: DOID:10608][accessDate: 05-04-2011] Coeliac disease[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Coeliac rickets Coeliac rickets[accessedResource: SNOMEDCT:275404008][accessDate: 05-04-2011] Coeliac sprue Coeliac sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Coeliac syndrome Coeliac syndrome[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] DOID:10608 Disease, Celiac Disease, Celiac[accessedResource: MSH:D002446][accessDate: 05-04-2011] Enteropathies, Gluten Enteropathies, Gluten-Sensitive Enteropathies, Gluten-Sensitive[accessedResource: MSH:D002446][accessDate: 05-04-2011] Enteropathies, Gluten[accessedResource: MSH:D002446][accessDate: 05-04-2011] Enteropathy, Gluten Enteropathy, Gluten-Sensitive Enteropathy, Gluten-Sensitive[accessedResource: MSH:D002446][accessDate: 05-04-2011] Enteropathy, Gluten[accessedResource: MSH:D002446][accessDate: 05-04-2011] GSE - Gluten-sensitive enteropathy GSE - Gluten-sensitive enteropathy[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] GeneRIF:11826026 GeneRIF:11869041 GeneRIF:11908704 GeneRIF:11972887 GeneRIF:12039527 GeneRIF:12074713 GeneRIF:12093810 GeneRIF:12410804 GeneRIF:12421937 GeneRIF:12439623 GeneRIF:12542746 GeneRIF:12559633 GeneRIF:12675238 GeneRIF:12698366 GeneRIF:12732349 GeneRIF:12743709 GeneRIF:12755416 GeneRIF:12759242 GeneRIF:12788988 GeneRIF:12959221 GeneRIF:14675396 GeneRIF:14991945 GeneRIF:15120190 GeneRIF:15174785 GeneRIF:15215891 GeneRIF:15324937 GeneRIF:15617864 GeneRIF:15645196 GeneRIF:15657618 GeneRIF:15746535 GeneRIF:15826953 GeneRIF:16026592 GeneRIF:16112033 GeneRIF:16285941 Gluten Enteropathies Gluten Enteropathies[accessedResource: MSH:D002446][accessDate: 05-04-2011] Gluten Enteropathy[accessedResource: MSH:D002446][accessDate: 05-04-2011] Gluten Sensitive Enteropathy Gluten Sensitive Enteropathy[accessedResource: MSH:D002446][accessDate: 05-04-2011] Gluten enteropathy Gluten-Induced Enteropathy Gluten-Induced Enteropathy[accessedResource: NCIt:C26714][accessDate: 05-04-2011] Gluten-Sensitive Enteropathies Gluten-Sensitive Enteropathies[accessedResource: MSH:D002446][accessDate: 05-04-2011] Gluten-Sensitive Enteropathy Gluten-Sensitive Enteropathy[accessedResource: MSH:D002446][accessDate: 05-04-2011] Gluten-induced enteropathy syndrome Gluten-induced enteropathy syndrome[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Gluten-responsive sprue Gluten-responsive sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] ICD9:579.0 Idiopathic steatorrhea Idiopathic steatorrhea[accessedResource: DOID:10608][accessDate: 05-04-2011] Idiopathic steatorrhoea Idiopathic steatorrhoea[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] James Malone MSH:D002446 NCIt:C26714 Non Tropical Sprue Non Tropical Sprue[accessedResource: NCIt:C26714][accessDate: 05-04-2011] Non-tropical sprue Non-tropical sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Nontropical Sprue Nontropical sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] OMIM:212750 SNOMEDCT:197481005 SNOMEDCT:275404008 SNOMEDCT:396331005 Sprue Sprue, Celiac Sprue, Celiac[accessedResource: MSH:D002446][accessDate: 05-04-2011] Sprue, Nontropical Sprue, Nontropical[accessedResource: MSH:D002446][accessDate: 05-04-2011] Sprue[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] Steatorrhoea - idiopathic Steatorrhoea - idiopathic[accessedResource: DOID:10608][accessDate: 05-04-2011] Tomasz Adamusiak Wheat-sensitive enteropathy Wheat-sensitive enteropathy[accessedResource: SNOMEDCT:396331005][accessDate: 05-04-2011] true cervical carcinoma A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma.[accessedResource: NCIt:C9039][accessDate: 05-04-2011] A carcinoma that affects the cervix uteri or cervical area. A carcinoma that is located_in the cervix uteri or located_in the cervical area. A carcinoma that is located_in the cervix uteri or located_in the cervical area.[accessedResource: DOID:2893][accessDate: 05-04-2011] Cancer of Cervix Cancer of Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Cancer of Uterine Cervix Cancer of Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Cancer of the Cervix Cancer of the Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Cancer of the Uterine Cervix Cancer of the Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Carcinoma of Cervix Uteri Carcinoma of Cervix Uteri[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Carcinoma of Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Carcinoma of Uterine Cervix Carcinoma of Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Carcinoma of cervix Carcinoma of the Cervix Carcinoma of the Cervix Uteri[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Carcinoma of the Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Carcinoma of the Uterine Cervix Carcinoma of the Uterine Cervix[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Cervical Cancer Cervical Cancer[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Cervical carcinoma may arise from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are: squamous carcinoma, adenocarcinoma, adenosquamous carcinoma, adenoid cystic carcinoma and undifferentiated carcinoma. Cervix Cancer Cervix Cancer[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Cervix Carcinoma Cervix Carcinoma[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Cervix Uteri Carcinoma Cervix Uteri Carcinoma[accessedResource: NCIt:C9039][accessDate: 05-04-2011] DOID:2893 GeneRIF:11809691 GeneRIF:11920583 GeneRIF:11956602 GeneRIF:11957139 GeneRIF:12007187 GeneRIF:12057898 GeneRIF:12174873 GeneRIF:12392301 GeneRIF:12451999 GeneRIF:12748469 GeneRIF:12820323 GeneRIF:12893195 GeneRIF:12894545 GeneRIF:14578179 GeneRIF:14584072 GeneRIF:15001834 GeneRIF:15047823 GeneRIF:15066318 GeneRIF:15131051 GeneRIF:15201979 GeneRIF:15386342 GeneRIF:15619642 GeneRIF:15702969 GeneRIF:15736426 GeneRIF:15744560 GeneRIF:15816636 GeneRIF:15856299 GeneRIF:16047742 GeneRIF:16298968 James Malone NCIt:C9039 OMIM:603956 SNOMEDCT:285432005 Tomasz Adamusiak Uterine Cervix Cancer Uterine Cervix Cancer[accessedResource: NCIt:C9039][accessDate: 05-04-2011] Uterine Cervix Carcinoma Uterine Cervix Carcinoma[accessedResource: NCIt:C9039][accessDate: 05-04-2011] carcinoma cervix uteri carcinoma cervix uteri[accessedResource: DOID:2893][accessDate: 05-04-2011] carcinoma of cervix (disorder) carcinoma of cervix (disorder)[accessedResource: DOID:2893][accessDate: 05-04-2011] carcinoma of the Cervix Uteri cervical carcinoma (uterus) cervical carcinoma (uterus)[accessedResource: DOID:2893][accessDate: 05-04-2011] cytomegalovirus infection A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions. A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.[accessedResource: DOID:11259][accessDate: 05-04-2011] CMV - Cytomegalovirus infection CMV - Cytomegalovirus infection[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011] CYTOMEGALIC INCLUSION DIS CYTOMEGALIC INCLUSION DIS[accessedResource: MSH:D003586][accessDate: 05-04-2011] CYTOMEGALOVIRAL DISEASE CYTOMEGALOVIRUS INFECT CYTOMEGALOVIRUS INFECT[accessedResource: MSH:D003586][accessDate: 05-04-2011] Cytomagalovirus infection Cytomagalovirus infection[accessedResource: DOID:11259][accessDate: 05-04-2011] Cytomegalic Inclusion Diseases Cytomegalic Inclusion Diseases[accessedResource: MSH:D003586][accessDate: 05-04-2011] Cytomegalic inclusion disease Cytomegalic inclusion disease[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011] Cytomegaloviral disease, unspecified Cytomegaloviral disease, unspecified (disorder) Cytomegaloviral disease, unspecified (disorder)[accessedResource: DOID:11259][accessDate: 05-04-2011] Cytomegaloviral disease, unspecified[accessedResource: DOID:11259][accessDate: 05-04-2011] Cytomegaloviral disease[accessedResource: DOID:11259][accessDate: 05-04-2011] Cytomegalovirus Infection Cytomegalovirus Infections Cytomegalovirus Infections[accessedResource: MSH:D003586][accessDate: 05-04-2011] Cytomegalovirus infection (disorder) Cytomegalovirus infection (disorder)[accessedResource: DOID:11259][accessDate: 05-04-2011] Cytomegalovirus infection, NOS Cytomegalovirus infection, NOS[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011] Cytomegalovirus infectious disease Cytomegalovirus infectious disease[accessedResource: DOID:11259][accessDate: 05-04-2011] DOID:11259 Disease due to Cytomegalovirus Disease due to Cytomegalovirus[accessedResource: SNOMEDCT:28944009][accessDate: 05-04-2011] Disease, Cytomegalic Inclusion Disease, Cytomegalic Inclusion[accessedResource: MSH:D003586][accessDate: 05-04-2011] Diseases, Cytomegalic Inclusion Diseases, Cytomegalic Inclusion[accessedResource: MSH:D003586][accessDate: 05-04-2011] GeneRIF:12370359 GeneRIF:12388817 GeneRIF:12466474 GeneRIF:12478407 GeneRIF:14962896 GeneRIF:14990723 GeneRIF:14993594 GeneRIF:15021824 GeneRIF:15194307 GeneRIF:15452223 GeneRIF:15528370 GeneRIF:15890971 GeneRIF:16267761 GeneRIF:16272328 HCMV Human Herpesvirus 5 ICD9:078.5 INCLUSION DIS INCLUSION DIS[accessedResource: MSH:D003586][accessDate: 05-04-2011] INFECT CYTOMEGALOVIRUS INFECT CYTOMEGALOVIRUS[accessedResource: MSH:D003586][accessDate: 05-04-2011] Inclusion Disease Inclusion Disease, Cytomegalic Inclusion Disease, Cytomegalic[accessedResource: MSH:D003586][accessDate: 05-04-2011] Inclusion Disease[accessedResource: MSH:D003586][accessDate: 05-04-2011] Inclusion Diseases Inclusion Diseases, Cytomegalic Inclusion Diseases, Cytomegalic[accessedResource: MSH:D003586][accessDate: 05-04-2011] Inclusion Diseases[accessedResource: MSH:D003586][accessDate: 05-04-2011] Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults. Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.[accessedResource: MSH:D003586][accessDate: 05-04-2011] Infection, Cytomegalovirus Infection, Cytomegalovirus[accessedResource: MSH:D003586][accessDate: 05-04-2011] Infections, Cytomegalovirus Infections, Cytomegalovirus[accessedResource: MSH:D003586][accessDate: 05-04-2011] James Malone MSH:D003586 SALIVARY GLAND VIRUS DIS SALIVARY GLAND VIRUS DIS[accessedResource: MSH:D003586][accessDate: 05-04-2011] SNOMEDCT:187456009 SNOMEDCT:28944009 Salivary Gland Virus Disease[accessedResource: MSH:D003586][accessDate: 05-04-2011] Salivary gland virus disease [X]Cytomegaloviral disease, unspecified [X]Cytomegaloviral disease, unspecified (disorder) [X]Cytomegaloviral disease, unspecified (disorder)[accessedResource: SNOMEDCT:187456009][accessDate: 05-04-2011] [X]Cytomegaloviral disease, unspecified[accessedResource: SNOMEDCT:187456009][accessDate: 05-04-2011] cytomegalovirus infection[accessedResource: DOID:11259][accessDate: 05-04-2011] deafness A partial or complete loss o f hearing in one or both ears; the level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing. An inherited or acquired condition characterized by a partial or complete loss of hearing in one or both ears. The level of impairment varies from a mild but important loss of sensitivity to a total loss of hearing.[accessedResource: NCIt:C27644][accessDate: 05-04-2011] An inherited or acquired condition characterized by the complete loss of the ability to hear from one or both ears. Bilateral Deafness Bilateral deafness (finding) Complete deafness (finding) DOID:10005 Deafness NOS Deafness NOS (disorder) Deafness NOS (disorder)[accessedResource: SNOMEDCT:267678002][accessDate: 05-04-2011] Deafness NOS (finding) Deafness NOS (finding)[accessedResource: SNOMEDCT:267678002][accessDate: 05-04-2011] Deafness NOS[accessedResource: SNOMEDCT:267678002][accessDate: 05-04-2011] GeneRIF:11333869 GeneRIF:11432967 GeneRIF:11584050 GeneRIF:11668644 GeneRIF:11709538 GeneRIF:11807148 GeneRIF:11850618 GeneRIF:11870684 GeneRIF:11896458 GeneRIF:11907649 GeneRIF:11924819 GeneRIF:11972037 GeneRIF:11976689 GeneRIF:11977173 GeneRIF:12022040 GeneRIF:12032315 GeneRIF:12062767 GeneRIF:12064630 GeneRIF:12068628 GeneRIF:12075507 GeneRIF:12080392 GeneRIF:12081719 GeneRIF:12107438 GeneRIF:12107817 GeneRIF:12111646 GeneRIF:12114484 GeneRIF:12121736 GeneRIF:12127154 GeneRIF:12136232 GeneRIF:12140191 GeneRIF:12145746 GeneRIF:12161469 GeneRIF:12169891 GeneRIF:12172392 GeneRIF:12176036 GeneRIF:12189487 GeneRIF:12189493 GeneRIF:12325029 GeneRIF:12370316 GeneRIF:12382103 GeneRIF:12384781 GeneRIF:12393046 GeneRIF:12393794 GeneRIF:12393799 GeneRIF:12403827 GeneRIF:12419304 GeneRIF:12471561 GeneRIF:12483295 GeneRIF:12490528 GeneRIF:12505163 GeneRIF:12522556 GeneRIF:12527136 GeneRIF:12560944 GeneRIF:12620969 GeneRIF:12621333 GeneRIF:12642503 GeneRIF:12651873 GeneRIF:12654476 GeneRIF:12655418 GeneRIF:12687421 GeneRIF:12687499 GeneRIF:12717441 GeneRIF:12746400 GeneRIF:12746422 GeneRIF:12792423 GeneRIF:12810983 GeneRIF:12833159 GeneRIF:12865758 GeneRIF:12904681 GeneRIF:12910270 GeneRIF:12920079 GeneRIF:12968670 GeneRIF:14532115 GeneRIF:14552423 GeneRIF:14556203 GeneRIF:14570705 GeneRIF:14585957 GeneRIF:14644237 GeneRIF:14648237 GeneRIF:14684684 GeneRIF:14727813 GeneRIF:14985365 GeneRIF:15015131 GeneRIF:15044642 GeneRIF:15083701 GeneRIF:15099592 GeneRIF:15226564 GeneRIF:15286153 GeneRIF:15300860 GeneRIF:15314067 GeneRIF:15326186 GeneRIF:15350283 GeneRIF:15464308 GeneRIF:15482471 GeneRIF:15490091 GeneRIF:15542390 GeneRIF:15579465 GeneRIF:15710493 GeneRIF:15855033 GeneRIF:15857852 GeneRIF:15886106 GeneRIF:15891640 GeneRIF:15905332 GeneRIF:15944150 GeneRIF:15996220 GeneRIF:16088916 GeneRIF:16155570 James Malone NCIt:C27644 OMIM:243800 SNOMEDCT:267678002 Tomasz Adamusiak Total Deafness complete hearing loss obsolete_Down syndrome A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004 A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome. --2004[accessedResource: NCIt:C2993][accessDate: 05-04-2011] A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)[accessedResource: MSH:D004314][accessDate: 05-04-2011] A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia) A disorder caused by the presence of all or part of an extra 21st chromosome, characterized by structural abnormalities throughout the body. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. (Adapted from Wikipedia)[accessedResource: NIFSTD:nlx_dys_20090502][accessDate: 05-04-2011] Complete trisomy 21 syndrome Complete trisomy 21 syndrome (disorder) Complete trisomy 21 syndrome (disorder)[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011] Complete trisomy 21 syndrome[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011] DOID:14250 DOWN'S SYNDROME Down Syndrome, Partial Trisomy 21 Down Syndrome, Partial Trisomy 21[accessedResource: MSH:D004314][accessDate: 05-04-2011] Down's syndrome - trisomy 21 Down's syndrome - trisomy 21[accessedResource: DOID:14250][accessDate: 05-04-2011] Down's syndrome NOS Down's syndrome NOS (disorder) Down's syndrome NOS (disorder)[accessedResource: DOID:14250][accessDate: 05-04-2011] Down's syndrome NOS[accessedResource: SNOMEDCT:254263008][accessDate: 05-04-2011] Down's syndrome[accessedResource: ICD9:758.0][accessDate: 05-04-2011] Downs Syndrome Downs syndrome[accessedResource: NIFSTD:nlx_dys_20090502][accessDate: 05-04-2011] G Trisomy G Trisomy[accessedResource: DOID:14250][accessDate: 05-04-2011] GeneRIF:11331941 GeneRIF:11565556 GeneRIF:11771735 GeneRIF:11771736 GeneRIF:11771738 GeneRIF:11771745 GeneRIF:11771746 GeneRIF:11771749 GeneRIF:11771750 GeneRIF:11771751 GeneRIF:11771755 GeneRIF:11771757 GeneRIF:11771758 GeneRIF:11771762 GeneRIF:11771764 GeneRIF:11810642 GeneRIF:11824616 GeneRIF:11856873 GeneRIF:11879646 GeneRIF:11920898 GeneRIF:12032275 GeneRIF:12070657 GeneRIF:12080391 GeneRIF:12109594 GeneRIF:12145461 GeneRIF:12172547 GeneRIF:12200143 GeneRIF:12359327 GeneRIF:12393509 GeneRIF:12400059 GeneRIF:12459318 GeneRIF:12469345 GeneRIF:12499044 GeneRIF:12515899 GeneRIF:12529699 GeneRIF:12576745 GeneRIF:12586620 GeneRIF:12628594 GeneRIF:12650976 GeneRIF:12767918 GeneRIF:12771203 GeneRIF:12796830 GeneRIF:12816863 GeneRIF:12895444 GeneRIF:12923861 GeneRIF:12931206 GeneRIF:12943237 GeneRIF:12957488 GeneRIF:14512321 GeneRIF:14615042 GeneRIF:14636651 GeneRIF:14656875 GeneRIF:14678752 GeneRIF:14701734 GeneRIF:14738882 GeneRIF:15068237 GeneRIF:15068239 GeneRIF:15068241 GeneRIF:15068242 GeneRIF:15068243 GeneRIF:15068244 GeneRIF:15068245 GeneRIF:15068251 GeneRIF:15068254 GeneRIF:15082224 GeneRIF:15103709 GeneRIF:15169762 GeneRIF:15184603 GeneRIF:15255950 GeneRIF:15358155 GeneRIF:15661359 GeneRIF:15694837 GeneRIF:15804423 GeneRIF:15820773 GeneRIF:15946822 GeneRIF:16222229 GeneRIF:16231093 GeneRIF:16274669 ICD9:758.0 James Malone MSH:D004314 Mongolism Mongolism[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011] NCIt:C2993 NIFSTD:nlx_dys_20090502 Partial Trisomy 21 Down Syndrome Partial Trisomy 21 Down Syndrome[accessedResource: MSH:D004314][accessDate: 05-04-2011] SNOMEDCT:254263008 SNOMEDCT:41040004 Syndrome, Down Syndrome, Down's Syndrome, Down's[accessedResource: MSH:D004314][accessDate: 05-04-2011] Syndrome, Down[accessedResource: MSH:D004314][accessDate: 05-04-2011] T21 - Trisomy 21 T21 - Trisomy 21[accessedResource: SNOMEDCT:41040004][accessDate: 05-04-2011] Tomasz Adamusiak Trisomy 21 Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome Trisomy 21 (Down Syndrome)Downs SyndromeTrisomy 21 Syndrome[accessedResource: NCIt:C2993][accessDate: 05-04-2011] Trisomy 21 NOS Trisomy 21 NOS[accessedResource: SNOMEDCT:254263008][accessDate: 05-04-2011] Trisomy 21 Syndrome[accessedResource: NCIt:C2993][accessDate: 05-04-2011] Trisomy 21, Meiotic Nondisjunction Trisomy 21, Meiotic Nondisjunction[accessedResource: MSH:D004314][accessDate: 05-04-2011] Trisomy 21, Mitotic Nondisjunction Trisomy 21, Mitotic Nondisjunction[accessedResource: MSH:D004314][accessDate: 05-04-2011] Trisomy 21[accessedResource: MSH:D004314][accessDate: 05-04-2011] trisomy 21 syndrome 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_116' instead. New Label : Down syndrome endometriosis DOID:289 ENDOMETRIOSIS NEC ENDOMETRIOSIS NEC[accessedResource: ICD9:617.8][accessDate: 05-04-2011] ENDOMETRIOSIS NOS[accessedResource: ICD9:617.9][accessDate: 05-04-2011] Endometriosis (clinical) Endometriosis (clinical)[accessedResource: SNOMEDCT:129103003][accessDate: 05-04-2011] Endometriosis (disorder) Endometriosis (disorder)[accessedResource: SNOMEDCT:129103003][accessDate: 05-04-2011] Endometriosis (morphologic abnormality) Endometriosis (morphologic abnormality)[accessedResource: SNOMEDCT:396224008][accessDate: 05-04-2011] Endometriosis NOS Endometriosis NOS (disorder) Endometriosis NOS (disorder)[accessedResource: SNOMEDCT:198259004][accessDate: 05-04-2011] Endometriosis of other specified sites Endometriosis of other specified sites[accessedResource: ICD9:617.8][accessDate: 05-04-2011] Endometriosis, site unspecified Endometriosis, site unspecified[accessedResource: ICD9:617.9][accessDate: 05-04-2011] GeneRIF:11716965 GeneRIF:11756572 GeneRIF:11804955 GeneRIF:11870103 GeneRIF:11883743 GeneRIF:11925378 GeneRIF:11963839 GeneRIF:11968047 GeneRIF:11994543 GeneRIF:12009356 GeneRIF:12012624 GeneRIF:12034345 GeneRIF:12042273 GeneRIF:12062821 GeneRIF:12112590 GeneRIF:12200463 GeneRIF:12297480 GeneRIF:12372458 GeneRIF:12372460 GeneRIF:12372466 GeneRIF:12372468 GeneRIF:12517591 GeneRIF:12525458 GeneRIF:12529420 GeneRIF:12568865 GeneRIF:12571183 GeneRIF:12571184 GeneRIF:12587534 GeneRIF:12594002 GeneRIF:12620489 GeneRIF:12699881 GeneRIF:12700072 GeneRIF:12773447 GeneRIF:12788899 GeneRIF:12832381 GeneRIF:12837926 GeneRIF:14505259 GeneRIF:14506926 GeneRIF:14556808 GeneRIF:14644829 GeneRIF:14645176 GeneRIF:14667896 GeneRIF:14667898 GeneRIF:14764801 GeneRIF:14967364 GeneRIF:14980314 GeneRIF:14989983 GeneRIF:14998974 GeneRIF:15044605 GeneRIF:15059587 GeneRIF:15083380 GeneRIF:15105396 GeneRIF:15120697 GeneRIF:15120698 GeneRIF:15126568 GeneRIF:15166129 GeneRIF:15166131 GeneRIF:15193490 GeneRIF:15212671 GeneRIF:15212674 GeneRIF:15236995 GeneRIF:15242994 GeneRIF:15302278 GeneRIF:15319381 GeneRIF:15472211 GeneRIF:15531592 GeneRIF:15533352 GeneRIF:15588473 GeneRIF:15589849 GeneRIF:15602080 GeneRIF:15613411 GeneRIF:15618253 GeneRIF:15640252 GeneRIF:15665016 GeneRIF:15705625 GeneRIF:15734764 GeneRIF:15746194 GeneRIF:15749482 GeneRIF:15749523 GeneRIF:15755869 GeneRIF:15764806 GeneRIF:15820792 GeneRIF:15820794 GeneRIF:15861041 GeneRIF:15866595 GeneRIF:15878920 GeneRIF:15879464 GeneRIF:15950672 GeneRIF:15979990 GeneRIF:15979997 GeneRIF:16006475 GeneRIF:16024248 GeneRIF:16084889 GeneRIF:16084898 GeneRIF:16098858 GeneRIF:16144297 GeneRIF:16169423 GeneRIF:16192641 GeneRIF:16210018 ICD9:617 ICD9:617.8 ICD9:617.9 James Malone MSH:D004715 NCIt:C3014 SNOMEDCT:129103003 SNOMEDCT:198259004 SNOMEDCT:396224008 The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs. The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.[accessedResource: NCIt:C3014][accessDate: 05-04-2011] true experimental autoimmune encephalomyelitis ALLERGIC ENCEPH ALLERGIC ENCEPH EXPER ALLERGIC ENCEPH EXPER[accessedResource: MSH:D004681][accessDate: 05-04-2011] ALLERGIC ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011] AUTOIMMUNE ENCEPH EXPER AUTOIMMUNE ENCEPH EXPER[accessedResource: MSH:D004681][accessDate: 05-04-2011] AUTOIMMUNE EXPER ENCEPH AUTOIMMUNE EXPER ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011] Allergic Encephalomyelitis, Experimental Allergic Encephalomyelitis, Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011] Allergic encephalomyelitis Allergic encephalomyelitis (disorder) Allergic encephalomyelitis (disorder)[accessedResource: SNOMEDCT:50776006][accessDate: 05-04-2011] Allergic encephalomyelitis[accessedResource: SNOMEDCT:50776006][accessDate: 05-04-2011] An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5) An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)[accessedResource: MSH:D004681][accessDate: 05-04-2011] Autoimmune Encephalomyelitis, Experimental Autoimmune Encephalomyelitis, Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011] Autoimmune Experimental Encephalomyelitis Autoimmune Experimental Encephalomyelitis[accessedResource: MSH:D004681][accessDate: 05-04-2011] DOID:3046 EAE ENCEPH ALLERGIC ENCEPH ALLERGIC[accessedResource: MSH:D004681][accessDate: 05-04-2011] ENCEPH AUTOIMMUNE EXPER ENCEPH AUTOIMMUNE EXPER[accessedResource: MSH:D004681][accessDate: 05-04-2011] ENCEPH EXPER AUTOIMMUNE ENCEPH EXPER AUTOIMMUNE[accessedResource: MSH:D004681][accessDate: 05-04-2011] EXPER ALLERGIC ENCEPH EXPER ALLERGIC ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011] EXPER AUTOIMMUNE ENCEPH EXPER AUTOIMMUNE ENCEPH[accessedResource: MSH:D004681][accessDate: 05-04-2011] Encephalomyelitis, Allergic Encephalomyelitis, Allergic[accessedResource: MSH:D004681][accessDate: 05-04-2011] Encephalomyelitis, Autoimmune Experimental Encephalomyelitis, Autoimmune Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011] Encephalomyelitis, Autoimmune, Experimental Encephalomyelitis, Autoimmune, Experimental[accessedResource: MSH:D004681][accessDate: 05-04-2011] Encephalomyelitis, Experimental Allergic Encephalomyelitis, Experimental Allergic[accessedResource: MSH:D004681][accessDate: 05-04-2011] Encephalomyelitis, Experimental Autoimmune Encephalomyelitis, Experimental Autoimmune[accessedResource: MSH:D004681][accessDate: 05-04-2011] Experimental Allergic Encephalomyelitides Experimental Allergic Encephalomyelitides[accessedResource: MSH:D004681][accessDate: 05-04-2011] Experimental Allergic Encephalomyelitis Experimental Allergic Encephalomyelitis[accessedResource: MSH:D004681][accessDate: 05-04-2011] Experimental Encephalomyelitis, Autoimmune Experimental Encephalomyelitis, Autoimmune[accessedResource: MSH:D004681][accessDate: 05-04-2011] Experimental allergic encephalomyelitis (disorder) Experimental allergic encephalomyelitis (disorder)[accessedResource: SNOMEDCT:27040004][accessDate: 05-04-2011] GeneRIF:11477542 GeneRIF:11721059 GeneRIF:11847479 GeneRIF:11859094 GeneRIF:11908941 GeneRIF:11908949 GeneRIF:11932923 GeneRIF:11985514 GeneRIF:12097407 GeneRIF:12115610 GeneRIF:12146799 GeneRIF:12147621 GeneRIF:12196270 GeneRIF:12207354 GeneRIF:12372981 GeneRIF:12387457 GeneRIF:12429207 GeneRIF:12471147 GeneRIF:12486171 GeneRIF:12538686 GeneRIF:12594253 GeneRIF:12613667 GeneRIF:12626533 GeneRIF:12791309 GeneRIF:12799016 GeneRIF:12817031 GeneRIF:12819359 GeneRIF:12925695 GeneRIF:12960295 GeneRIF:14507666 GeneRIF:14634082 GeneRIF:14644025 GeneRIF:14662853 GeneRIF:14662901 GeneRIF:14688366 GeneRIF:14766173 GeneRIF:14975582 GeneRIF:14988414 GeneRIF:14991835 GeneRIF:14999816 GeneRIF:15050683 GeneRIF:15081250 GeneRIF:15100315 GeneRIF:15265890 GeneRIF:15328042 GeneRIF:15383583 GeneRIF:15383607 GeneRIF:15390104 GeneRIF:15494405 GeneRIF:15501390 GeneRIF:15522913 GeneRIF:15710471 GeneRIF:15728477 GeneRIF:15778395 GeneRIF:15778405 GeneRIF:15835266 GeneRIF:15837577 GeneRIF:15843539 GeneRIF:15843584 GeneRIF:15850576 GeneRIF:15878627 GeneRIF:15920728 GeneRIF:15925413 GeneRIF:15926914 GeneRIF:15929040 GeneRIF:16002731 GeneRIF:16005524 GeneRIF:16049338 GeneRIF:16081797 GeneRIF:16172261 GeneRIF:16172262 GeneRIF:16177127 GeneRIF:16272284 James Malone MSH:D004681 SNOMEDCT:27040004 SNOMEDCT:50776006 parasitic Infection A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host.[accessedResource: DOID:1398][accessDate: 05-04-2011] A disease by infectious agent that is carried out by parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. A successful invasion of a host by an organism that uses the host for food and shelter. A successful invasion of a host by an organism that uses the host for food and shelter.[accessedResource: NCIt:C27864][accessDate: 05-04-2011] A systemic infectious disease that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. DOID:1398 Disease caused by parasite Disease caused by parasite (disorder) Disease caused by parasite (disorder)[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Disease caused by parasite, NOS Disease caused by parasite, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Disease caused by parasite[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Disease, Parasitic Disease, Parasitic[accessedResource: MSH:D010272][accessDate: 05-04-2011] Diseases, Parasitic Diseases, Parasitic[accessedResource: MSH:D010272][accessDate: 05-04-2011] Ectoparasitic disease Ectoparasitic disease[accessedResource: DOID:1398][accessDate: 05-04-2011] GeneRIF:11444968 GeneRIF:12045244 GeneRIF:15471863 Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure. Infections or infestations with parasitic organisms. They are often contracted through contact with an intermediate vector, but may occur as the result of direct exposure.[accessedResource: MSH:D010272][accessDate: 05-04-2011] Infestation Infestation, NOS Infestation, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Infestation[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] James Malone MSH:D010272 NCIt:C27864 PARASITIC DIS PARASITIC DIS[accessedResource: MSH:D010272][accessDate: 05-04-2011] Parasite infestation Parasite infestation, NOS Parasite infestation, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasite infestation[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasitic Disease[accessedResource: MSH:D010272][accessDate: 05-04-2011] Parasitic Diseases Parasitic Diseases[accessedResource: MSH:D010272][accessDate: 05-04-2011] Parasitic disease Parasitic disease, NOS Parasitic disease, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasitic endophthalmitis (disorder) Parasitic endophthalmitis (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic endophthalmitis NOS Parasitic endophthalmitis NOS (disorder) Parasitic endophthalmitis NOS (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic endophthalmitis NOS[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic eye infection (disorder) Parasitic eye infection (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic infection of lung Parasitic infection of lung[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic infection of skin Parasitic infection of skin[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic infection, NOS Parasitic infection, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasitic infectious disease of the central nervous system (disorder) Parasitic infectious disease of the central nervous system (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic infectious disease, NOS Parasitic infectious disease, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasitic infestation of orbit (disorder) Parasitic infestation of orbit (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitic skin infestation (disorder) Parasitic skin infestation (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] Parasitism Parasitism, NOS Parasitism, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasitism[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasitosis Parasitosis, NOS Parasitosis, NOS[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Parasitosis[accessedResource: SNOMEDCT:17322007][accessDate: 05-04-2011] Psorospermiasis (disorder) Psorospermiasis (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] SNOMEDCT:17322007 animal parasitic infectious disease animal parasitic infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] central nervous system parasitic infectious disease central nervous system parasitic infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] intestinal parasitism (disorder) intestinal parasitism (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] intestinal parasitism NOS (disorder) intestinal parasitism NOS (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] intestinal parasitism, unspecified intestinal parasitism, unspecified (disorder) intestinal parasitism, unspecified (disorder)[accessedResource: DOID:1398][accessDate: 05-04-2011] intestinal parasitism, unspecified[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitemia parasitemia[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic animal parasitic endophthalmitis parasitic endophthalmitis[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic eye infection parasitic eye infection[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic eye infectious disease parasitic eye infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic gastrointestinal disorder parasitic gastrointestinal disorder[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic infectious disease parasitic infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic infestation of orbit parasitic infestation of orbit[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic intestinal infectious disease parasitic intestinal infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic liver disorder parasitic liver disorder[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic liver infectious disease parasitic liver infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic lung infectious disease parasitic lung infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic pregnancy complication parasitic skin disorder parasitic skin disorder[accessedResource: DOID:1398][accessDate: 05-04-2011] parasitic skin infectious disease parasitic skin infectious disease[accessedResource: DOID:1398][accessDate: 05-04-2011] psorospermiasis psorospermiasis[accessedResource: DOID:1398][accessDate: 05-04-2011] skin Infestation NOS skin Infestation NOS[accessedResource: DOID:1398][accessDate: 05-04-2011] malaria A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia. A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.[accessedResource: MSH:D008288][accessDate: 05-04-2011] A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia. A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.[accessedResource: NCIt:C34797][accessDate: 05-04-2011] An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. An Aconoidasida infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.[accessedResource: DOID:12365][accessDate: 05-04-2011] DOID:12365 Disease due to Plasmodiidae Disease due to Plasmodiidae (disorder) Disease due to Plasmodiidae (disorder)[accessedResource: SNOMEDCT:105649009][accessDate: 05-04-2011] Disease due to Plasmodiidae[accessedResource: SNOMEDCT:105649009][accessDate: 05-04-2011] Fever, Marsh Fever, Marsh[accessedResource: MSH:D008288][accessDate: 05-04-2011] Fever, Remittent Fever, Remittent[accessedResource: MSH:D008288][accessDate: 05-04-2011] GeneRIF:11434773 GeneRIF:11668637 GeneRIF:11971017 GeneRIF:12117997 GeneRIF:12125143 GeneRIF:12140747 GeneRIF:12402212 GeneRIF:12486610 GeneRIF:12496175 GeneRIF:12574396 GeneRIF:12626578 GeneRIF:12654089 GeneRIF:12654091 GeneRIF:12738632 GeneRIF:12746397 GeneRIF:12933825 GeneRIF:14595440 GeneRIF:14694201 GeneRIF:14695625 GeneRIF:14767829 GeneRIF:15086902 GeneRIF:15211007 GeneRIF:15272009 GeneRIF:15319871 GeneRIF:15322007 GeneRIF:15383590 GeneRIF:15478802 GeneRIF:15500919 GeneRIF:15634900 GeneRIF:15691125 GeneRIF:15718915 GeneRIF:15724813 GeneRIF:15845528 GeneRIF:15853902 GeneRIF:15931230 GeneRIF:15933743 GeneRIF:15973412 GeneRIF:16113307 ICD9:084 ICD9:084.4 ICD9:084.6 ICD9:084.9 INFECT PLASMODIUM INFECT PLASMODIUM[accessedResource: MSH:D008288][accessDate: 05-04-2011] Induced malaria (disorder) Induced malaria (disorder)[accessedResource: DOID:12365][accessDate: 05-04-2011] Infection, Plasmodium Infection, Plasmodium[accessedResource: MSH:D008288][accessDate: 05-04-2011] Infections, Plasmodium Infections, Plasmodium[accessedResource: MSH:D008288][accessDate: 05-04-2011] James Malone MALARIA COMPLICATED NEC MALARIA COMPLICATED NEC[accessedResource: ICD9:084.9][accessDate: 05-04-2011] MALARIA NEC MALARIA NEC[accessedResource: ICD9:084.4][accessDate: 05-04-2011] MALARIA NOS MALARIA NOS[accessedResource: ICD9:084.6][accessDate: 05-04-2011] MSH:D008288 Malaria (disorder) Malaria (disorder)[accessedResource: SNOMEDCT:61462000][accessDate: 05-04-2011] Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa. Malaria, NOS Malaria, NOS[accessedResource: SNOMEDCT:61462000][accessDate: 05-04-2011] Malaria, unspecified Malaria, unspecified[accessedResource: ICD9:084.6][accessDate: 05-04-2011] Malarial fever Malarial fever (finding) Malarial fever (finding)[accessedResource: SNOMEDCT:248437004][accessDate: 05-04-2011] Malarial fever[accessedResource: SNOMEDCT:248437004][accessDate: 05-04-2011] Marsh Fever Marsh Fever[accessedResource: MSH:D008288][accessDate: 05-04-2011] NCIt:C34797 Other malaria Other malaria (disorder) Other malaria (disorder)[accessedResource: SNOMEDCT:266121001][accessDate: 05-04-2011] Other malaria[accessedResource: ICD9:084.4][accessDate: 05-04-2011] Other pernicious complications of malaria Other pernicious complications of malaria[accessedResource: ICD9:084.9][accessDate: 05-04-2011] PLASMODIUM INFECT PLASMODIUM INFECT[accessedResource: MSH:D008288][accessDate: 05-04-2011] Paludism Paludism[accessedResource: MSH:D008288][accessDate: 05-04-2011] Plasmodiosis Plasmodiosis[accessedResource: SNOMEDCT:61462000][accessDate: 05-04-2011] Plasmodium Infection Plasmodium Infection[accessedResource: MSH:D008288][accessDate: 05-04-2011] Plasmodium Infections Plasmodium Infections[accessedResource: MSH:D008288][accessDate: 05-04-2011] Remittent Fever Remittent Fever[accessedResource: MSH:D008288][accessDate: 05-04-2011] SNOMEDCT:105649009 SNOMEDCT:186797008 SNOMEDCT:187510004 SNOMEDCT:248437004 SNOMEDCT:266121001 SNOMEDCT:61462000 Tomasz Adamusiak Unspecified malaria Unspecified malaria (disorder) Unspecified malaria (disorder)[accessedResource: SNOMEDCT:186797008][accessDate: 05-04-2011] Unspecified malaria[accessedResource: SNOMEDCT:186797008][accessDate: 05-04-2011] [X]Unspecified malaria [X]Unspecified malaria (disorder) [X]Unspecified malaria (disorder)[accessedResource: SNOMEDCT:187510004][accessDate: 05-04-2011] [X]Unspecified malaria[accessedResource: SNOMEDCT:187510004][accessDate: 05-04-2011] induced malaria induced malaria[accessedResource: DOID:12365][accessDate: 05-04-2011] true nutritional disorder Any condition related to a disturbance between proper intake and utilization of nourishment. Any condition related to a disturbance between proper intake and utilization of nourishment.[accessedResource: NCIt:C26836][accessDate: 05-04-2011] DOID:374 Disorder of nutrition Disorder of nutrition[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011] Disorders caused by nutritional imbalance, either overnutrition or undernutrition. Disorders caused by nutritional imbalance, either overnutrition or undernutrition.[accessedResource: MSH:D009748][accessDate: 05-04-2011] James Malone MSH:D009748 Malnutrition Malnutrition[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011] NCIt:C26836 NUTRITION DIS NUTRITION DIS[accessedResource: MSH:D009748][accessDate: 05-04-2011] NUTRITIONAL DIS NUTRITIONAL DIS[accessedResource: MSH:D009748][accessDate: 05-04-2011] Nutrition Disorder[accessedResource: MSH:D009748][accessDate: 05-04-2011] Nutrition Disorders Nutrition Disorders[accessedResource: MSH:D009748][accessDate: 05-04-2011] Nutrition disorder Nutritional Disorders Nutritional Disorders[accessedResource: MSH:D009748][accessDate: 05-04-2011] Nutritional disease Nutritional disease, NOS Nutritional disease, NOS[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011] Nutritional disease[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011] Nutritional disorder (disorder) Nutritional disorder (disorder)[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011] Nutritional disorder, NOS Nutritional disorder, NOS[accessedResource: SNOMEDCT:2492009][accessDate: 05-04-2011] SNOMEDCT:2492009 nutrition disease nutrition disease[accessedResource: DOID:374][accessDate: 05-04-2011] folate deficiency A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed) A nutritional condition produced by a deficiency of FOLIC ACID in the diet. Many plant and animal tissues contain folic acid, abundant in green leafy vegetables, yeast, liver, and mushrooms but destroyed by long-term cooking. Alcohol interferes with its intermediate metabolism and absorption. Folic acid deficiency may develop in long-term anticonvulsant therapy or with use of oral contraceptives. This deficiency causes anemia, macrocytic anemia, and megaloblastic anemia. It is indistinguishable from vitamin B 12 deficiency in peripheral blood and bone marrow findings, but the neurologic lesions seen in B 12 deficiency do not occur. (Merck Manual, 16th ed)[accessedResource: MSH:D005494][accessDate: 05-04-2011] Acid Deficiencies, Folic Acid Deficiencies, Folic[accessedResource: MSH:D005494][accessDate: 05-04-2011] Acid Deficiency, Folic Acid Deficiency, Folic[accessedResource: MSH:D005494][accessDate: 05-04-2011] DEFIC FOLIC ACID DEFIC FOLIC ACID[accessedResource: MSH:D005494][accessDate: 05-04-2011] DOID:8453 Deficiencies, Folic Acid Deficiencies, Folic Acid[accessedResource: MSH:D005494][accessDate: 05-04-2011] Deficiency of folic acid Deficiency of folic acid[accessedResource: SNOMEDCT:190633005][accessDate: 05-04-2011] Deficiency, Folic Acid Deficiency, Folic Acid[accessedResource: MSH:D005494][accessDate: 05-04-2011] FOLIC ACID DEFIC FOLIC ACID DEFIC[accessedResource: MSH:D005494][accessDate: 05-04-2011] Folic Acid Deficiencies Folic Acid Deficiencies[accessedResource: MSH:D005494][accessDate: 05-04-2011] Folic acid deficiency Folic acid deficiency (disorder) Folic acid deficiency (disorder)[accessedResource: SNOMEDCT:190633005][accessDate: 05-04-2011] Folic acid deficiency[accessedResource: DOID:8453][accessDate: 05-04-2011] GeneRIF:12144527 GeneRIF:12666851 GeneRIF:12887734 GeneRIF:15068241 GeneRIF:15817609 GeneRIF:16046705 James Malone MSH:D005494 SNOMEDCT:190633005 deficiency of folic acid (disorder) deficiency of folic acid (disorder)[accessedResource: DOID:8453][accessDate: 05-04-2011] lung carcinoma A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors. A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.[accessedResource: NCIt:C4878][accessDate: 05-04-2011] A carcinoma that is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. A carcinoma that is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.[accessedResource: DOID:3905][accessDate: 05-04-2011] Cancer of Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011] Cancer of the Lung Cancer of the Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011] Cancer, Lung Cancer, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011] Cancer, Pulmonary Cancer, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011] Cancers, Lung Cancers, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011] Cancers, Pulmonary Cancers, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011] Carcinoma of Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011] Carcinoma of the Lung Carcinoma of the Lung[accessedResource: NCIt:C4878][accessDate: 05-04-2011] DOID:3905 GeneRIF:11807786 GeneRIF:11844598 GeneRIF:11857309 GeneRIF:11920544 GeneRIF:11939413 GeneRIF:12021930 GeneRIF:12067477 GeneRIF:12115568 GeneRIF:12162425 GeneRIF:12452048 GeneRIF:12581892 GeneRIF:12819188 GeneRIF:15041706 GeneRIF:15086519 GeneRIF:15221958 GeneRIF:15242764 GeneRIF:15456784 GeneRIF:15754326 GeneRIF:15756594 GeneRIF:15782117 GeneRIF:16038795 GeneRIF:16052521 GeneRIF:16125822 James Malone LUNG NEOPL LUNG NEOPL[accessedResource: MSH:D008175][accessDate: 05-04-2011] Lung Cancer Lung Cancer[accessedResource: MSH:D008175][accessDate: 05-04-2011] Lung Cancers Lung Cancers[accessedResource: MSH:D008175][accessDate: 05-04-2011] Lung Neoplasm Lung Neoplasm[accessedResource: MSH:D008175][accessDate: 05-04-2011] Lung Neoplasms Lung Neoplasms[accessedResource: MSH:D008175][accessDate: 05-04-2011] MSH:D008175 NCIt:C4878 NEOPL LUNG NEOPL LUNG[accessedResource: MSH:D008175][accessDate: 05-04-2011] NEOPL PULM NEOPL PULM[accessedResource: MSH:D008175][accessDate: 05-04-2011] Neoplasm, Lung Neoplasm, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011] Neoplasm, Pulmonary Neoplasm, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011] Neoplasms, Lung Neoplasms, Lung[accessedResource: MSH:D008175][accessDate: 05-04-2011] Neoplasms, Pulmonary Neoplasms, Pulmonary[accessedResource: MSH:D008175][accessDate: 05-04-2011] PULM NEOPL PULM NEOPL[accessedResource: MSH:D008175][accessDate: 05-04-2011] Pulmonary Cancer Pulmonary Cancer[accessedResource: MSH:D008175][accessDate: 05-04-2011] Pulmonary Cancers Pulmonary Cancers[accessedResource: MSH:D008175][accessDate: 05-04-2011] Pulmonary Neoplasm Pulmonary Neoplasm[accessedResource: MSH:D008175][accessDate: 05-04-2011] Pulmonary Neoplasms Pulmonary Neoplasms[accessedResource: MSH:D008175][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the LUNG. Tumors or cancer of the LUNG.[accessedResource: MSH:D008175][accessDate: 05-04-2011] cancer of lung carcinoma OF LUNG true memory impairment James Malone Memory Impairment Adverse Event Memory Impairment Adverse Event[accessedResource: NCIt:C55427][accessDate: 05-04-2011] NCIt:C55427 obesity A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).[accessedResource: MSH:D009765][accessDate: 05-04-2011] Adiposis Adiposis[accessedResource: SNOMEDCT:414916001][accessDate: 05-04-2011] Adiposity Adiposity[accessedResource: SNOMEDCT:414916001][accessDate: 05-04-2011] An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher. An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.[accessedResource: NIFSTD:nlx_dys_20090302][accessDate: 05-04-2011] DOID:9970 GeneRIF:11718682 GeneRIF:11738809 GeneRIF:11739396 GeneRIF:11739957 GeneRIF:11791158 GeneRIF:11800057 GeneRIF:11816701 GeneRIF:11821707 GeneRIF:11822583 GeneRIF:11829746 GeneRIF:11866034 GeneRIF:11872365 GeneRIF:11882520 GeneRIF:11882596 GeneRIF:11890967 GeneRIF:11896485 GeneRIF:11912547 GeneRIF:11916923 GeneRIF:11923308 GeneRIF:11941369 GeneRIF:11956156 GeneRIF:11970899 GeneRIF:11972291 GeneRIF:11996962 GeneRIF:12006640 GeneRIF:12031976 GeneRIF:12032637 GeneRIF:12032642 GeneRIF:12032748 GeneRIF:12032749 GeneRIF:12032760 GeneRIF:12033496 GeneRIF:12037740 GeneRIF:12045256 GeneRIF:12050239 GeneRIF:12050272 GeneRIF:12053815 GeneRIF:12055319 GeneRIF:12055326 GeneRIF:12068290 GeneRIF:12075569 GeneRIF:12075576 GeneRIF:12079879 GeneRIF:12080444 GeneRIF:12083814 GeneRIF:12086939 GeneRIF:12086946 GeneRIF:12086965 GeneRIF:12093799 GeneRIF:12097321 GeneRIF:12099975 GeneRIF:12101250 GeneRIF:12133430 GeneRIF:12133431 GeneRIF:12145151 GeneRIF:12160996 GeneRIF:12161058 GeneRIF:12161541 GeneRIF:12161552 GeneRIF:12161655 GeneRIF:12163041 GeneRIF:12165561 GeneRIF:12165748 GeneRIF:12175706 GeneRIF:12177411 GeneRIF:12189588 GeneRIF:12193546 GeneRIF:12213628 GeneRIF:12213871 GeneRIF:12213872 GeneRIF:12213908 GeneRIF:12217430 GeneRIF:12226142 GeneRIF:12353079 GeneRIF:12364415 GeneRIF:12364441 GeneRIF:12364457 GeneRIF:12365916 GeneRIF:12370125 GeneRIF:12375583 GeneRIF:12376184 GeneRIF:12385894 GeneRIF:12387862 GeneRIF:12393670 GeneRIF:12399252 GeneRIF:12401709 GeneRIF:12401727 GeneRIF:12402973 GeneRIF:12409311 GeneRIF:12424252 GeneRIF:12429872 GeneRIF:12429873 GeneRIF:12429880 GeneRIF:12429884 GeneRIF:12435081 GeneRIF:12436346 GeneRIF:12447443 GeneRIF:12466947 GeneRIF:12480555 GeneRIF:12483461 GeneRIF:12484512 GeneRIF:12488352 GeneRIF:12488961 GeneRIF:12490667 GeneRIF:12499395 GeneRIF:12507421 GeneRIF:12508940 GeneRIF:12519848 GeneRIF:12519856 GeneRIF:12524228 GeneRIF:12529491 GeneRIF:12529498 GeneRIF:12529499 GeneRIF:12530526 GeneRIF:12531492 GeneRIF:12540594 GeneRIF:12540600 GeneRIF:12552573 GeneRIF:12569166 GeneRIF:12574803 GeneRIF:12582011 GeneRIF:12597523 GeneRIF:12598526 GeneRIF:12601637 GeneRIF:12603007 GeneRIF:12609752 GeneRIF:12619866 GeneRIF:12634434 GeneRIF:12634439 GeneRIF:12642576 GeneRIF:12649573 GeneRIF:12658019 GeneRIF:12660874 GeneRIF:12660878 GeneRIF:12660883 GeneRIF:12663465 GeneRIF:12679463 GeneRIF:12690079 GeneRIF:12690102 GeneRIF:12716739 GeneRIF:12716767 GeneRIF:12716769 GeneRIF:12720538 GeneRIF:12727933 GeneRIF:12727947 GeneRIF:12728641 GeneRIF:12730030 GeneRIF:12730403 GeneRIF:12734779 GeneRIF:12739015 GeneRIF:12746327 GeneRIF:12746756 GeneRIF:12750152 GeneRIF:12756299 GeneRIF:12765950 GeneRIF:12765952 GeneRIF:12765968 GeneRIF:12767044 GeneRIF:12769595 GeneRIF:12788860 GeneRIF:12788932 GeneRIF:12791674 GeneRIF:12805252 GeneRIF:12805399 GeneRIF:12810555 GeneRIF:12824951 GeneRIF:12829631 GeneRIF:12829658 GeneRIF:12843170 GeneRIF:12851317 GeneRIF:12855749 GeneRIF:12855752 GeneRIF:12855762 GeneRIF:12856128 GeneRIF:12860835 GeneRIF:12861009 GeneRIF:12865257 GeneRIF:12865337 GeneRIF:12869354 GeneRIF:12869545 GeneRIF:12882843 GeneRIF:12882938 GeneRIF:12885755 GeneRIF:12888635 GeneRIF:12899679 GeneRIF:12900437 GeneRIF:12902351 GeneRIF:12910269 GeneRIF:12915696 GeneRIF:12920182 GeneRIF:12923129 GeneRIF:12925533 GeneRIF:12925701 GeneRIF:12949354 GeneRIF:12951617 GeneRIF:12958061 GeneRIF:12960041 GeneRIF:12968669 GeneRIF:12970296 GeneRIF:13129857 GeneRIF:14504270 GeneRIF:14525909 GeneRIF:14551151 GeneRIF:14567496 GeneRIF:14600075 GeneRIF:14602788 GeneRIF:14625134 GeneRIF:14627764 GeneRIF:14637275 GeneRIF:14642408 GeneRIF:14642613 GeneRIF:14642615 GeneRIF:14646408 GeneRIF:14657196 GeneRIF:14657411 GeneRIF:14660566 GeneRIF:14660752 GeneRIF:14663468 GeneRIF:14671185 GeneRIF:14671186 GeneRIF:14673524 GeneRIF:14674682 GeneRIF:14682470 GeneRIF:14683458 GeneRIF:14691540 GeneRIF:14693717 GeneRIF:14693721 GeneRIF:14701677 GeneRIF:14707164 GeneRIF:14713387 GeneRIF:14715497 GeneRIF:14715842 GeneRIF:14715869 GeneRIF:14722031 GeneRIF:14726256 GeneRIF:14739355 GeneRIF:14742836 GeneRIF:14742837 GeneRIF:14746672 GeneRIF:14747205 GeneRIF:14747283 GeneRIF:14747301 GeneRIF:14759071 GeneRIF:14764817 GeneRIF:14968297 GeneRIF:14970363 GeneRIF:14993225 GeneRIF:15001632 GeneRIF:15001633 GeneRIF:15002062 GeneRIF:15009470 GeneRIF:15010337 GeneRIF:15024085 GeneRIF:15034227 GeneRIF:15037865 GeneRIF:15042014 GeneRIF:15044674 GeneRIF:15048662 GeneRIF:15051828 GeneRIF:15055256 GeneRIF:15055467 GeneRIF:15057669 GeneRIF:15063110 GeneRIF:15063799 GeneRIF:15070752 GeneRIF:15070774 GeneRIF:15070780 GeneRIF:15070922 GeneRIF:15070936 GeneRIF:15070954 GeneRIF:15070960 GeneRIF:15076153 GeneRIF:15087473 GeneRIF:15090636 GeneRIF:15102885 GeneRIF:15111497 GeneRIF:15111524 GeneRIF:15114524 GeneRIF:15123613 GeneRIF:15126243 GeneRIF:15156315 GeneRIF:15166310 GeneRIF:15168018 GeneRIF:15169894 GeneRIF:15181040 GeneRIF:15181046 GeneRIF:15181048 GeneRIF:15181539 GeneRIF:15191885 GeneRIF:15193430 GeneRIF:15198934 GeneRIF:15202783 GeneRIF:15208271 GeneRIF:15220187 GeneRIF:15220189 GeneRIF:15220220 GeneRIF:15220914 GeneRIF:15223990 GeneRIF:15231997 GeneRIF:15240652 GeneRIF:15248831 GeneRIF:15254878 GeneRIF:15271881 GeneRIF:15277400 GeneRIF:15277448 GeneRIF:15281018 GeneRIF:15292306 GeneRIF:15292320 GeneRIF:15292322 GeneRIF:15292330 GeneRIF:15292348 GeneRIF:15292352 GeneRIF:15292466 GeneRIF:15297289 GeneRIF:15298982 GeneRIF:15314024 GeneRIF:15314181 GeneRIF:15315911 GeneRIF:15323067 GeneRIF:15331532 GeneRIF:15331533 GeneRIF:15331535 GeneRIF:15331564 GeneRIF:15334374 GeneRIF:15336575 GeneRIF:15337759 GeneRIF:15340111 GeneRIF:15355432 GeneRIF:15358131 GeneRIF:15365617 GeneRIF:15367397 GeneRIF:15369797 GeneRIF:15382608 GeneRIF:15382611 GeneRIF:15386812 GeneRIF:15448102 GeneRIF:15448103 GeneRIF:15459958 GeneRIF:15466016 GeneRIF:15467829 GeneRIF:15472174 GeneRIF:15472203 GeneRIF:15476445 GeneRIF:15494612 GeneRIF:15500001 GeneRIF:15518421 GeneRIF:15520868 GeneRIF:15522935 GeneRIF:15522943 GeneRIF:15531738 GeneRIF:15533361 GeneRIF:15533384 GeneRIF:15536594 GeneRIF:15538935 GeneRIF:15550470 GeneRIF:15563274 GeneRIF:15570174 GeneRIF:15576462 GeneRIF:15579796 GeneRIF:15583845 GeneRIF:15588160 GeneRIF:15596147 GeneRIF:15598678 GeneRIF:15601832 GeneRIF:15601967 GeneRIF:15601970 GeneRIF:15604363 GeneRIF:15613432 GeneRIF:15616037 GeneRIF:15616040 GeneRIF:15620432 GeneRIF:15625086 GeneRIF:15635487 GeneRIF:15637293 GeneRIF:15653680 GeneRIF:15654325 GeneRIF:15660115 GeneRIF:15677498 GeneRIF:15677759 GeneRIF:15678704 GeneRIF:15685173 GeneRIF:15688209 GeneRIF:15731326 GeneRIF:15735230 GeneRIF:15743038 GeneRIF:15746153 GeneRIF:15769985 GeneRIF:15770500 GeneRIF:15778720 GeneRIF:15780823 GeneRIF:15781751 GeneRIF:15789277 GeneRIF:15795426 GeneRIF:15795809 GeneRIF:15797871 GeneRIF:15797955 GeneRIF:15798948 GeneRIF:15806395 GeneRIF:15806598 GeneRIF:15811564 GeneRIF:15820771 GeneRIF:15823758 GeneRIF:15834545 GeneRIF:15841306 GeneRIF:15845623 GeneRIF:15845877 GeneRIF:15854142 GeneRIF:15855321 GeneRIF:15855322 GeneRIF:15855349 GeneRIF:15855351 GeneRIF:15862893 GeneRIF:15864349 GeneRIF:15864530 GeneRIF:15867334 GeneRIF:15869602 GeneRIF:15870101 GeneRIF:15878965 GeneRIF:15886715 GeneRIF:15889231 GeneRIF:15889232 GeneRIF:15890776 GeneRIF:15897474 GeneRIF:15897476 GeneRIF:15897480 GeneRIF:15905321 GeneRIF:15910756 GeneRIF:15916056 GeneRIF:15919794 GeneRIF:15919834 GeneRIF:15919835 GeneRIF:15919838 GeneRIF:15919839 GeneRIF:15920074 GeneRIF:15923630 GeneRIF:15928242 GeneRIF:15930442 GeneRIF:15936463 GeneRIF:15939106 GeneRIF:15941924 GeneRIF:15942768 GeneRIF:15944845 GeneRIF:15946750 GeneRIF:15955385 GeneRIF:15959417 GeneRIF:15972581 GeneRIF:15978107 GeneRIF:15979049 GeneRIF:15983201 GeneRIF:15983230 GeneRIF:15985479 GeneRIF:15994342 GeneRIF:16005429 GeneRIF:16009937 GeneRIF:16021472 GeneRIF:16027245 GeneRIF:16030142 GeneRIF:16030156 GeneRIF:16046411 GeneRIF:16048795 GeneRIF:16054046 GeneRIF:16054054 GeneRIF:16054069 GeneRIF:16092047 GeneRIF:16102992 GeneRIF:16123197 GeneRIF:16123358 GeneRIF:16123374 GeneRIF:16135994 GeneRIF:16166222 GeneRIF:16167150 GeneRIF:16180331 GeneRIF:16186392 GeneRIF:16186410 GeneRIF:16186414 GeneRIF:16200066 GeneRIF:16204364 GeneRIF:16222046 GeneRIF:16222047 GeneRIF:16224049 GeneRIF:16249436 GeneRIF:16260612 GeneRIF:16288749 GeneRIF:9205417 ICD9:278.0 ICD9:278.00 James Malone MSH:D009765 NIFSTD:nlx_dys_20090302 OBESITY NOS[accessedResource: ICD9:278.00][accessDate: 05-04-2011] Obese Obese (finding) Obese (finding)[accessedResource: SNOMEDCT:414915002][accessDate: 05-04-2011] Obese[accessedResource: SNOMEDCT:414915002][accessDate: 05-04-2011] Obesity (disorder) Obesity (disorder)[accessedResource: SNOMEDCT:414916001][accessDate: 05-04-2011] Obesity NOS Obesity [Ambiguous] Obesity, unspecified Obesity, unspecified[accessedResource: ICD9:278.00][accessDate: 05-04-2011] Overweight and obesity Overweight and obesity[accessedResource: ICD9:278.0][accessDate: 05-04-2011] SNOMEDCT:414915002 SNOMEDCT:414916001 Tomasz Adamusiak true morbid obesity A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY). A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).[accessedResource: MSH:D009765][accessDate: 05-04-2011] DOID:11981 Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight. Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight.[accessedResource: NIFSTD:nlx_dys_20090303][accessDate: 05-04-2011] GeneRIF:12032643 GeneRIF:12032749 GeneRIF:12148087 GeneRIF:12647279 GeneRIF:12822042 GeneRIF:12870165 GeneRIF:12883487 GeneRIF:14763917 GeneRIF:14764818 GeneRIF:15002062 GeneRIF:15235769 GeneRIF:15919838 GeneRIF:16160866 GeneRIF:16253647 ICD9:278.01 James Malone MSH:D009765 MSH:D009767 Morbid Obesities Morbid Obesities[accessedResource: MSH:D009767][accessDate: 05-04-2011] Morbid obesity (disorder) Morbid obesity (disorder)[accessedResource: SNOMEDCT:238136002][accessDate: 05-04-2011] NIFSTD:nlx_dys_20090303 Obesities, Morbid Obesities, Morbid[accessedResource: MSH:D009767][accessDate: 05-04-2011] Obesity, Morbid Obesity, Morbid[accessedResource: MSH:D009767][accessDate: 05-04-2011] Obesity[accessedResource: MSH:D009765][accessDate: 05-04-2011] SNOMEDCT:238136002 Severe obesity Severe obesity[accessedResource: DOID:11981][accessDate: 05-04-2011] The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2. The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2.[accessedResource: MSH:D009767][accessDate: 05-04-2011] Tomasz Adamusiak morbid[accessedResource: NIFSTD:nlx_dys_20090303][accessDate: 05-04-2011] ovarian carcinoma Cancer of Ovary Cancer of Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] Cancer of the Ovary Cancer of the Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] Cancer, Ovarian Cancer, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011] Cancer, Ovary Cancer, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] Cancers, Ovarian Cancers, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011] Cancers, Ovary Cancers, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] James Malone MSH:D010051 NEOPL OVARIAN NEOPL OVARIAN[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasm, Ovarian Neoplasm, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasm, Ovary Neoplasm, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasms, Ovarian Neoplasms, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasms, Ovary Neoplasms, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] OVARIAN NEOPL OVARIAN NEOPL[accessedResource: MSH:D010051][accessDate: 05-04-2011] OVARY NEOPL OVARY NEOPL[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovarian Cancer Ovarian Cancer[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovarian Cancers Ovarian Cancers[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovarian Neoplasm Ovarian Neoplasm[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovarian Neoplasms Ovarian Neoplasms[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovary Cancer Ovary Cancer[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovary Cancers Ovary Cancers[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovary Neoplasm Ovary Neoplasm[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovary Neoplasms Ovary Neoplasms[accessedResource: MSH:D010051][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.[accessedResource: MSH:D010051][accessDate: 05-04-2011] true Pseudomonas infection Bacterial infection due to Pseudomonas Bacterial infection due to Pseudomonas (disorder) Bacterial infection due to Pseudomonas (disorder)[accessedResource: SNOMEDCT:63398001][accessDate: 05-04-2011] Bacterial infection due to Pseudomonas[accessedResource: SNOMEDCT:63398001][accessDate: 05-04-2011] Bacterial infectious disease due to Pseudomonas (disorder) Bacterial infectious disease due to Pseudomonas (disorder)[accessedResource: DOID:2903][accessDate: 05-04-2011] DOID:2903 GeneRIF:11906036 GeneRIF:14695625 GeneRIF:14734763 GeneRIF:15375173 GeneRIF:15950065 GeneRIF:16299282 INFECT PSEUDOMONAS INFECT PSEUDOMONAS[accessedResource: MSH:D011552][accessDate: 05-04-2011] Infection, Pseudomonas Infection, Pseudomonas[accessedResource: MSH:D011552][accessDate: 05-04-2011] Infections with bacteria of the genus PSEUDOMONAS. Infections with bacteria of the genus PSEUDOMONAS.[accessedResource: MSH:D011552][accessDate: 05-04-2011] Infections, Pseudomonas Infections, Pseudomonas[accessedResource: MSH:D011552][accessDate: 05-04-2011] James Malone MSH:D011552 PSEUDOMONAS INFECT PSEUDOMONAS INFECT[accessedResource: MSH:D011552][accessDate: 05-04-2011] Pseudomonas Infections Pseudomonas Infections[accessedResource: MSH:D011552][accessDate: 05-04-2011] Pseudomonas infectious disease Pseudomonas infectious disease[accessedResource: DOID:2903][accessDate: 05-04-2011] SNOMEDCT:63398001 Pseudomonas aeruginosa CF5 infection A Pseudomonas aeruginosa CF5 infection is a Pseudomonas infection of strain CF5. James Malone Y. Apidianakis, M.N. Mindrinos, W. Xiao, G.W. Lau, R.L. Baldini, R.W. Davis and L.G. Rahme, Profiling early infection responses: Pseudomonas aeruginosa eludes host defenses by suppressing antimicrobial peptide gene expression, Proc. Natl. Acad. Sci. USA 102 (2005), pp. 2573-2578 Pseudomonas aeruginosa PA14 infection A Pseudomonas aeruginosa PA14 infection is a Pseudomonas infection of strain PA14. James Malone Plotnikova, J. M., Rahme, L. G., Ausubel, F. M. (2000). Pathogenesis of the Human Opportunistic Pathogen Pseudomonas aeruginosa PA14 in Arabidopsis. Plant Physiol. 124: 1766-1774 obsolete_Rett syndrome A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. A pervasive developmental disease that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities.[accessedResource: DOID:1206][accessDate: 05-04-2011] A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities. An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH). An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear (MeSH).[accessedResource: NIFSTD:birnlex_12770][accessDate: 05-04-2011] An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)[accessedResource: MSH:D015518][accessDate: 05-04-2011] Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome[accessedResource: MSH:D015518][accessDate: 05-04-2011] Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome[accessedResource: NIFSTD:birnlex_12770][accessDate: 05-04-2011] Cerebroatrophic Hyperammonemia Cerebroatrophic Hyperammonemias Cerebroatrophic Hyperammonemias[accessedResource: MSH:D015518][accessDate: 05-04-2011] Cerebroatrophic hyperammonaemia Cerebroatrophic hyperammonaemia[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011] Cerebroatrophic hyperammonemia[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011] DOID:1206 GeneRIF:11432961 GeneRIF:11768391 GeneRIF:11896459 GeneRIF:11955928 GeneRIF:12081725 GeneRIF:12107440 GeneRIF:12111643 GeneRIF:12160743 GeneRIF:12170461 GeneRIF:12442230 GeneRIF:12449561 GeneRIF:12707946 GeneRIF:12770674 GeneRIF:14649549 GeneRIF:14751287 GeneRIF:14974082 GeneRIF:15057977 GeneRIF:15809268 GeneRIF:15954098 GeneRIF:16015284 GeneRIF:16077729 GeneRIF:16077736 Hyperammonemia, Cerebroatrophic Hyperammonemia, Cerebroatrophic[accessedResource: MSH:D015518][accessDate: 05-04-2011] Hyperammonemias, Cerebroatrophic Hyperammonemias, Cerebroatrophic[accessedResource: MSH:D015518][accessDate: 05-04-2011] James Malone MSH:D015518 NIFSTD:birnlex_12770 OMIM:312750 RETT DIS RETT DIS[accessedResource: MSH:D015518][accessDate: 05-04-2011] RETTS DIS RETTS DIS[accessedResource: MSH:D015518][accessDate: 05-04-2011] RTS - Rett syndrome RTS - Rett syndrome[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011] Rett disorder Rett disorder[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011] Rett's Disorder[accessedResource: MSH:D015518][accessDate: 05-04-2011] Rett's Syndrome Rett's Syndrome[accessedResource: MSH:D015518][accessDate: 05-04-2011] Rett's disorder Rett's disorder (disorder) Rett's disorder (disorder)[accessedResource: SNOMEDCT:68618008][accessDate: 05-04-2011] Retts Syndrome Retts Syndrome[accessedResource: MSH:D015518][accessDate: 05-04-2011] SNOMEDCT:68618008 Syndrome, Rett Syndrome, Rett's Syndrome, Rett's[accessedResource: MSH:D015518][accessDate: 05-04-2011] Syndrome, Rett[accessedResource: MSH:D015518][accessDate: 05-04-2011] Tomasz Adamusiak use 'http://www.orphanet.org/rdfns#pat_id_91' instead. New Label : Rett syndrome true 2.32 267B1 A 267b1 ki ras is a cell line. A 267b1 ki ras derives from a prostate. James Malone Natural Language Generator 8th April 2010 267B1 Ki-ras James Malone 293T James Malone 293TsiLL James Malone 3T3-L1 James Malone 600MPE James Malone A549 James Malone A-549 A549 cell AU565 James Malone obsolete_Beas2B Duplication, use EFO_0001089 instead James Malone true BEAS-2B Beas2B James Malone BJABK3 James Malone BL41K3 James Malone BT20 A BT20 is a cell line. A BT20 is all of the following: something that is bearer of a breast carcinoma, something that derives from a homo sapiens, and something that derives from an epithelial cell. James Malone Natural Language Generator 8th April 2010 BT474 James Malone BT483 James Malone BT549 James Malone C2C12 James Malone Caco-2 James Malone CAMA1 James Malone CC531 James Malone CFT-2 James Malone CSBwt-rescued fibroblasts James Malone GLI56 James Malone GLI60 James Malone GLI72 James Malone GM06985 James Malone GM06993 James Malone GM06994 James Malone GM07000 James Malone GM07022 James Malone GM07034 James Malone GM07055 James Malone GM07056 James Malone GM07345 James Malone GM07357 James Malone GM11829 James Malone GM11830 James Malone GM11831 James Malone GM11832 James Malone GM11839 James Malone GM11881 James Malone GM11882 James Malone GM11992 James Malone GM11993 James Malone GM11994 James Malone GM11995 James Malone GM12003 James Malone GM12004 James Malone GM12005 James Malone GM12006 James Malone GM12043 James Malone GM12044 James Malone GM12056 James Malone GM12057 James Malone GM12144 James Malone GM12145 James Malone GM12146 James Malone GM12154 James Malone GM12155 James Malone GM12156 James Malone GM12234 James Malone GM12236 James Malone GM12239 James Malone GM12248 James Malone GM12249 James Malone GM12716 James Malone GM12717 James Malone GM12750 James Malone A lymphoblastoid cell line derived from CEPH/UTAH PEDIGREE 1444. GM12751 James Malone GM12760 James Malone GM12761 James Malone GM12762 James Malone GM12763 James Malone GM12812 James Malone GM12813 James Malone GM12814 James Malone GM12815 James Malone GM12872 James Malone GM12873 James Malone GM12874 James Malone GM12875 James Malone obsolete_GM12891 2.1 James Malone duplicate with EFO_0002785 true obsolete_GM12892 2.1 James Malone duplicate with EFO_0002786 true H209 James Malone H720 James Malone HBL100 James Malone HCC1007 A HCC1007 is a cell line. A HCC1007 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland. James Malone Natural Language Generator 8th April 2010 HCC1143 James Malone HCC1187 James Malone HCC1428 James Malone HCC1500 James Malone HCC1569 James Malone HCC1937 James Malone HCC1954 James Malone HCC202 James Malone HCC2157 James Malone HCC2185 James Malone HCC3153 James Malone HCC38 James Malone HCC70 James Malone HEK293 BTO:0000007 James Malone MCC:0000006 human embryonic kidney cell HEK-293H James Malone HEK293T James Malone HeLa A HeLa is a cell line. A HeLa is all of the following: something that is bearer of a cervical carcinoma, something that derives from a Homo sapiens, something that derives from an epithelial cell, and something that derives from a cervix. BTO:0000567 James Malone Natural Language Generator 8th April 2010 HepaRG James Malone HepG2 James Malone Hep-G2 HepG2 cell HMEC James Malone HMEC S1 James Malone HMEC184 James Malone HMT3522S1 James Malone HS578T James Malone HT-29 James Malone IB3-1 James Malone IMR-32 An IMR 32 is a cell line. An IMR 32 is both something that is bearer of a neuroblastoma, and something that derives from a neuroblast sensu vertebrata. James Malone Natural Language Generator 8th April 2010 IMR-90 Human Fetal Lung Fibroblast cell line IMR90 James Malone Kin-S49 James Malone L3055 James Malone LY2 A LY2 is a cell line. A LY2 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland. James Malone Natural Language Generator 8th April 2010 MCF 10A James Malone MCF12A James Malone MCF-7 BTO:0000093 Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes. Human breast adenocarcinoma, established from the pleural effusion of a 69-year-old caucasian woman with metastatic mammary carcinoma (after radio- and hormone therapy) in 1970; cells were described of being positive for cytoplasmic estrogen receptors and having the capability to form domes.[accessedResource: BTO:0000093][accessDate: 05-04-2011] James Malone MCC:0000307 MCF-7 cell MCF-7 cell[accessedResource: BTO:0000093][accessDate: 05-04-2011] MCF7 MCF7 cell MDAMB134VI James Malone MDAMB157 James Malone MDAMB-157 obsolete_MDAMB-157 1.8 James Malone duplicate of EFO_0001206 true MDAMB175VII James Malone MDAMB231 James Malone MDAMB361 James Malone MDAMB415 James Malone MDAMB435 James Malone Was originally considered to be a breast cancer cell line but has since been identified as a melanoma cell line. MDAMB436 James Malone MDAMB453 James Malone MDAMB468 James Malone Met5A James Malone MM1 James Malone MOLT-4 James Malone MOLT4 NCI-H929 A NCI H929 is a cell line. A NCI H929 is all of the following: something that is bearer of a multiple myeloma, something that derives from a B cell, and something that derives from a bone marrow. James Malone Natural Language Generator 8th April 2010 NIH3T3 James Malone NIH3T3-L1 James Malone PAC2 James Malone PC12 James Malone R18 James Malone R28 James Malone R43 James Malone R46 James Malone R8 James Malone RAW264.7 James Malone RKO James Malone S2 BTO:0001677 Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid. Insect - fruitfly (Drosophila melanogaster) cell line, established from the late embryo of a Drosophila melanogaster (fruitfly) in 1972; originally the cells were diploid with 5-10% XY, currently the cell line has only XX cells that are now 60-80% tetraploid.[accessedResource: BTO:0001677][accessDate: 05-04-2011] James Malone S-2 cell S2 cell SCHNEIDER S2 Cell SCHNEIDER-2 cell SCHNEIDER-2 cell[accessedResource: BTO:0001677][accessDate: 05-04-2011] SL2 SL2 cell Schneider Schneider cell Schneider's Line S2 cell S49 James Malone SchneiderSL2 SKBR3 A SKBR3 is a cell line. A SKBR3 is all of the following: something that is bearer of a breast carcinoma, something that derives from an epithelial cell, and something that derives from a mammary gland. James Malone Natural Language Generator 8th April 2010 SKGT4 James Malone SUM1315MO2 James Malone SUM149PT James Malone SUM159PT James Malone SUM185PE James Malone SUM190PT James Malone SUM225CWN James Malone SUM44PE James Malone SUM52PE James Malone T47D James Malone TERV A TERV is a cell line. A TERV derives from a kidney. James Malone Natural Language Generator 8th April 2010 TERV-AntiSenseB56 James Malone TERV-ST James Malone TERV-ST110 James Malone THP-1 James Malone THP1 U266 James Malone U373 James Malone U87 James Malone U937 James Malone UACC812 James Malone UBOC1 An organ of corti derived cell line James Malone UBOC-1 WI38 James Malone ZF4 James Malone ZR751 James Malone ZR7530 James Malone ZR75B James Malone female A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes. A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes.[accessedResource: PATO:0000383][accessDate: 05-04-2011] CARO:0000028 James Malone Jie Zheng MO_506 PATO:0000383 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#female male A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes. A biological sex quality inhering in an individual or a population whose sex organs contain only male gametes.[accessedResource: PATO:0000384][accessDate: 05-04-2011] CARO:0000027 James Malone Jie Zheng MO_652 PATO:0000384 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#male hermaphrodite A biological sex quality inhering in an organism or a population with both male and female sexual organs in one individual. A biological sex quality inhering in an organism or a population with both male and female sexual organs in one individual.[accessedResource: PATO:0001340][accessDate: 05-04-2011] An organism having both male and female sexual characteristics and organs. An organism having both male and female sexual characteristics and organs.[accessedResource: NCIt:C45909][accessDate: 05-04-2011] Hermaphroditism Hermaphroditism[accessedResource: NCIt:C45909][accessDate: 05-04-2011] James Malone Jie Zheng MO_356 NCIt:C45909 PATO:0001340 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#hermaphrodite intersex intersex[accessedResource: PATO:0001340][accessDate: 05-04-2011] mating type A mating type is a biomaterial factor which describes the type of sexual reproduction through isogamy occur in eukaryotes that undergo. James Malone mating type h minus A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus. A S. pombe mating type determined by the mat1-Mc and mat1-Mi on the mat1 locus.[accessedResource: PATO:0001345][accessDate: 05-04-2011] James Malone MO_407 PATO:0001345 h minus h minus[accessedResource: PATO:0001345][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#mating_type_h_minus mating_type_h_minus mating_type_h_minus[accessedResource: MO_407][accessDate: 05-04-2011] mating type alpha A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids. A S. cerevisiae mating type cells that secrete a pheromone that stimulates a haploids.[accessedResource: PATO:0001344][accessDate: 05-04-2011] James Malone MO_637 PATO:0001344 alpha alpha mating type (yeast) alpha mating type (yeast)[accessedResource: PATO:0001344][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#mating_type_alpha mating_type_alpha mating_type_alpha[accessedResource: MO_637][accessDate: 05-04-2011] mixed sex population A biological sex quality inhering in a population of multiple sexes. A biological sex quality inhering in a population of multiple sexes.[accessedResource: PATO:0001338][accessDate: 05-04-2011] James Malone PATO:0001338 The total number of individuals inhabiting a particular region or area. adult A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth A maturity quality inhering in an individual by virtue of the individual having attained sexual maturity and full growth[accessedResource: NIFSTD:birnlex_681][accessDate: 05-04-2011] EV:0300070 EVM:2990028 FBdv:00005369 James Malone MAT:0000403 NIFSTD:birnlex_228 NIFSTD:birnlex_681 OntologyMappingImporter following MAT:0000403 Tomasz Adamusiak WBIs:0000041 XAO:1000009 adult stage adult stage[accessedResource: MAT:0000403][accessDate: 05-04-2011] blastula 128-cell Blastula:128-cell Blastula:128-cell[accessedResource: ZFS:0000008][accessDate: 05-04-2011] James Malone ZFS:0000008 blastula 1k-cell Blastula:1k-cell Blastula:1k-cell[accessedResource: ZFS:0000011][accessDate: 05-04-2011] James Malone ZFS:0000011 mating type a A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating. A S. cerevisiae mating type cells that secrete a pheromone that in alpha haploids stimulates processes that lead to mating.[accessedResource: PATO:0001341][accessDate: 05-04-2011] James Malone MO_659 PATO:0001341 a mating type (yeast) a mating type (yeast)[accessedResource: PATO:0001341][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#mating_type_a mating_type_a mating_type_a[accessedResource: MO_659][accessDate: 05-04-2011] blastula 256-cell Blastula:256-cell Blastula:256-cell[accessedResource: ZFS:0000009][accessDate: 05-04-2011] James Malone ZFS:0000009 blastula 30%-epiboly Blastula:30%-epiboly Blastula:30%-epiboly[accessedResource: ZFS:0000016][accessDate: 05-04-2011] James Malone ZFS:0000016 blastula 512-cell Blastula:512-cell Blastula:512-cell[accessedResource: ZFS:0000010][accessDate: 05-04-2011] James Malone ZFS:0000010 blastula dome Blastula:Dome Blastula:Dome[accessedResource: ZFS:0000015][accessDate: 05-04-2011] James Malone ZFS:0000015 blastula high Blastula:High Blastula:High[accessedResource: ZFS:0000012][accessDate: 05-04-2011] James Malone ZFS:0000012 blastula oblong Blastula:Oblong Blastula:Oblong[accessedResource: ZFS:0000013][accessDate: 05-04-2011] James Malone ZFS:0000013 obsolete_blastula stage EVM:2990005 FBdv:00005304 James Malone WBIs:0000005 XAO:1000003 blastoderm stage blastula embryo true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0000108 label: blastula stage blastula sphere Blastula:Sphere Blastula:Sphere[accessedResource: ZFS:0000014][accessDate: 05-04-2011] James Malone ZFS:0000014 cleavage 16-cell Cleavage:16-cell Cleavage:16-cell[accessedResource: ZFS:0000005][accessDate: 05-04-2011] James Malone ZFS:0000005 cleavage 2-cell Cleavage:2-cell Cleavage:2-cell[accessedResource: ZFS:0000002][accessDate: 05-04-2011] James Malone ZFS:0000002 cleavage 32-cell Cleavage:32-cell Cleavage:32-cell[accessedResource: ZFS:0000006][accessDate: 05-04-2011] James Malone ZFS:0000006 cleavage 4-cell Cleavage:4-cell Cleavage:4-cell[accessedResource: ZFS:0000003][accessDate: 05-04-2011] James Malone ZFS:0000003 cleavage 64-cell Cleavage:64-cell Cleavage:64-cell[accessedResource: ZFS:0000007][accessDate: 05-04-2011] James Malone ZFS:0000007 cleavage 8-cell Cleavage:8-cell Cleavage:8-cell[accessedResource: ZFS:0000004][accessDate: 05-04-2011] James Malone ZFS:0000004 obsolete_cleavage stage James Malone 2.39 Use http://purl.obolibrry.org/obo/UBERON_0000107 label: cleavage stage true gastrula 50%-epiboly Gastrula:50%-epiboly Gastrula:50%-epiboly[accessedResource: ZFS:0000017][accessDate: 05-04-2011] James Malone ZFS:0000017 gastrula 75%-epiboly Gastrula:75%-epiboly Gastrula:75%-epiboly[accessedResource: ZFS:0000020][accessDate: 05-04-2011] James Malone ZFS:0000020 gastrula 90%-epiboly Gastrula:90%-epiboly Gastrula:90%-epiboly[accessedResource: ZFS:0000021][accessDate: 05-04-2011] James Malone ZFS:0000021 gastrula bud Gastrula:Bud Gastrula:Bud[accessedResource: ZFS:0000022][accessDate: 05-04-2011] James Malone ZFS:0000022 gastrula germ-ring Gastrula:Germ-ring Gastrula:Germ-ring[accessedResource: ZFS:0000018][accessDate: 05-04-2011] James Malone ZFS:0000018 obsolete_gastrula stage EVM:2990009 FBdv:00005317 James Malone MAT:0000063 WBIs:0000010 XAO:1000005 gastrula gastrula[accessedResource: MAT:0000063][accessDate: 05-04-2011] gastrulating mbryo gastrulating mbryo[accessedResource: MAT:0000063][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000109 label: gastrula stage 2.39 true gastrula shield Gastrula:Shield Gastrula:Shield[accessedResource: ZFS:0000019][accessDate: 05-04-2011] James Malone ZFS:0000019 hatching stage Hatching:Long-pec Hatching:Long-pec[accessedResource: ZFS:0000033][accessDate: 05-04-2011] James Malone ZFS:0000033 hatching pec-fin Hatching:Pec-fin Hatching:Pec-fin[accessedResource: ZFS:0000034][accessDate: 05-04-2011] James Malone ZFS:0000034 obsolete_juvenile stage EV:0300051 James Malone MAT:0000402 XAO:1000010 child child[accessedResource: MAT:0000402][accessDate: 05-04-2011] young adult young adult[accessedResource: MAT:0000402][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0000112 label: juvenile stage true juvenile days 30-44 James Malone Juvenile:Days 30-44 Juvenile:Days 30-44[accessedResource: ZFS:0000042][accessDate: 05-04-2011] ZFS:0000042 juvenile days 45-89 James Malone Juvenile:Days 45-89 Juvenile:Days 45-89[accessedResource: ZFS:0000043][accessDate: 05-04-2011] ZFS:0000043 obsolete_larval stage FBdv:00005336 James Malone MAT:0000400 WBIs:0000023 XAO:1000008 tadpole stage tadpole stage[accessedResource: MAT:0000400][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0000069 label: larval stage true larval day 4 James Malone Larval:Day 4 Larval:Day 4[accessedResource: ZFS:0000036][accessDate: 05-04-2011] ZFS:0000036 larval day 5 James Malone Larval:Day 5 Larval:Day 5[accessedResource: ZFS:0000037][accessDate: 05-04-2011] ZFS:0000037 larval day 6 James Malone Larval:Day 6 Larval:Day 6[accessedResource: ZFS:0000038][accessDate: 05-04-2011] ZFS:0000038 larval day 14-20 James Malone Larval:Days 14-20 Larval:Days 14-20[accessedResource: ZFS:0000040][accessDate: 05-04-2011] ZFS:0000040 larval day 21-29 James Malone Larval:Days 21-29 Larval:Days 21-29[accessedResource: ZFS:0000041][accessDate: 05-04-2011] ZFS:0000041 larval day 7-13 James Malone Larval:Days 7-13 Larval:Days 7-13[accessedResource: ZFS:0000039][accessDate: 05-04-2011] ZFS:0000039 obsolete_pharyngula stage James Malone The pharyngula is a developmental stage in embryonic development which follows the blastula, gastrula and neurula stages. true Use http://purl.obolibrary.org/obo/UBERON_0004707 label: pharyngula stage 2.39 pharyngula high-pec James Malone Pharyngula:High-pec Pharyngula:High-pec[accessedResource: ZFS:0000032][accessDate: 05-04-2011] ZFS:0000032 pharyngula prim-15 James Malone Pharyngula:Prim-15 Pharyngula:Prim-15[accessedResource: ZFS:0000030][accessDate: 05-04-2011] ZFS:0000030 pharyngula prim-25 James Malone Pharyngula:Prim-25 Pharyngula:Prim-25[accessedResource: ZFS:0000031][accessDate: 05-04-2011] ZFS:0000031 pharyngula prim-5 James Malone Pharyngula:Prim-5 Pharyngula:Prim-5[accessedResource: ZFS:0000029][accessDate: 05-04-2011] ZFS:0000029 segmentation stage James Malone segmentation 1-4 somites James Malone Segmentation:1-4 somites Segmentation:1-4 somites[accessedResource: ZFS:0000023][accessDate: 05-04-2011] ZFS:0000023 segmentation 5-9 somites James Malone Segmentation:5-9 somites Segmentation:5-9 somites[accessedResource: ZFS:0000024][accessDate: 05-04-2011] ZFS:0000024 segmentation 10-13 somites James Malone Segmentation:10-13 somites Segmentation:10-13 somites[accessedResource: ZFS:0000025][accessDate: 05-04-2011] ZFS:0000025 segmentation 14-19 somites James Malone Segmentation:14-19 somites Segmentation:14-19 somites[accessedResource: ZFS:0000026][accessDate: 05-04-2011] ZFS:0000026 segmentation 20-25 somites James Malone Segmentation:20-25 somites Segmentation:20-25 somites[accessedResource: ZFS:0000027][accessDate: 05-04-2011] ZFS:0000027 segmentation 26+ somites James Malone Segmentation:26+ somites Segmentation:26+ somites[accessedResource: ZFS:0000028][accessDate: 05-04-2011] ZFS:0000028 fertilized egg stage EHDAA:27 EMAPA:16033 EVM:2990001 FBdv:00005288 James Malone Kupffer's vesicle Kupffer's vesicle[accessedResource: ZFA:0000001][accessDate: 05-04-2011] MFO:0005280 Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node. Small but distinctive epithelial sac containing fluid, located midventrally posterior to the yolk cell or its extension, and transiently present during most of the segmentation period. Kupffer's vesicle has been compared to the mouse embryonic node.[accessedResource: ZFA:0000001][accessDate: 05-04-2011] Tomasz Adamusiak XAO:0000035 ZFA:0000001 ZFS:0000001 Zygote:1-cell Zygote:1-cell[accessedResource: ZFS:0000001][accessDate: 05-04-2011] one-cell stage fetus EV:0300011 EVM:2990031 FBdv:0005333 James Malone MAT:0000399 embryo late (growth) stage embryo late (growth) stage[accessedResource: MAT:0000399][accessDate: 05-04-2011] obsolete_Drosophila melanogaster strain 2.0.1 James Malone Strain or line specific to Drosophila melanogaster consolodation of strain with taxon, all subclasses moved to Drosophila melanogaster true Canton S FBst0000001 James Malone SALK_049497 Germplasm:4652085 James Malone SALK_049497 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4652085 A/J A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000646.html James Malone NIFSTD:birnlex_577 Tomasz Adamusiak http://jaxmice.jax.org/strain/000646.html B6.Cg-Tg(SOD1-G93A)1Gur/J B6.Cg-Tg(SOD1-G93A)1Gur/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004435.html JAX:004435 James Malone C3H/HeJ C3H/HeJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000659.html JAX:000659 James Malone obsolete_C57BL/6J 1.8 A/J is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000664.html Duplicate use EFO_0000605 JAX:000664 James Malone true 129P1/ReJ James Malone NIFSTD:birnlex_152 Tomasz Adamusiak http://jaxmice.jax.org/strain/001137.html 129S1/SvImJ James Malone NIFSTD:birnlex_106 Tomasz Adamusiak http://jaxmice.jax.org/strain/002248.html obsolete_jejunum BTO:0000657 EV:0100074 FMAID:7207 James Malone MA:0000340 MAT:0000045 NCIt:C12388 SAEL:56 The portion of the small intestine that extends from the duodenum to the ileum. The portion of the small intestine that extends from the duodenum to the ileum.[accessedResource: NCIt:C12388][accessDate: 05-04-2011] The section of the small intestine that comprises the first two fifths beyond the duodenum and that is larger, thicker-walled, and more vascular and has more circular folds than the ileum. The section of the small intestine that comprises the first two fifths beyond the duodenum and that is larger, thicker-walled, and more vascular and has more circular folds than the ileum.[accessedResource: BTO:0000657][accessDate: 05-04-2011] intestinum jejunum mid intestine middle intestine true Use http://purl.obolibrary.org/obo/UBERON_0002115 label: jejunum 2.38 obsolete_ileum BTO:0000620 EV:0100075 FMAID:7208 James Malone MA:0000339 MAT:0000282 NCIt:C12387 SAEL:53 The final section of the small intestine. The final section of the small intestine.[accessedResource: NCIt:C12387][accessDate: 05-04-2011] The last division of the small intestine extending between the jejunum and large intestine. The last division of the small intestine extending between the jejunum and large intestine.[accessedResource: BTO:0000620][accessDate: 05-04-2011] XAO:0000237 distal intestine intestinum ileum lower intestine posterior intestine Use http://purl.obolibrary.org/obo/UBERON_0002116 label: ileum true 2.38 obsolete_behavioural disease 2.5 A disease of or relating to the manner that an organism conducts itself involving action and response to stimulation or the response of an individual, group, or species to its environment. DOID:150 GeneRIF:11884350 GeneRIF:12082566 GeneRIF:12218657 GeneRIF:12556907 GeneRIF:12605098 GeneRIF:12814372 GeneRIF:14523627 GeneRIF:14645456 GeneRIF:14744462 GeneRIF:14966479 GeneRIF:15341606 GeneRIF:15386212 ICD9:290-319.99 ICD9:300-316.99 ICD9:307 ICD9:307.5 ICD9:307.59 ICD9:307.9 James Malone SNOMEDCT:192637001 SNOMEDCT:192639003 SNOMEDCT:268721001 SNOMEDCT:74732009 merged with EFO_0000677 true CBA/CaJ CBA/CaJ is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/000654.html JAX:000654 James Malone BDC2.5/NOD A mouse strain developed by selection for diabetes (high fasting blood glucose) from F6 of the CTS strain BDC2.5/NOD is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/004460.html JAX:004460 James Malone Jie Zheng Tomasz Adamusiak TBP-71Q-16 JAX:008216 James Malone TBP-71Q-16 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008216.html CB6F1 CB6F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100007.html JAX:100007 James Malone B6C3F1 B6C3F1 is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/100010.html JAX:100010 James Malone TBP-105Q JAX:8075 James Malone TBP-105Q is a mouse strain as described in Jackson Laboratory http://jaxmice.jax.org/strain/008075.html Wistar James Malone NIFSTD:birnlex_320 RGD:10044 Tomasz Adamusiak Wistar-Furth James Malone RGD:1357955 Copenhagen James Malone RGD:1358153 Wistar-Kyoto James Malone RGD:1359002 Syracuse High Avoidance James Malone RGD:1578695 Syracuse Low Avoidance James Malone RGD:1578703 Okamoto-Aoki James Malone RGD:1581618 Dahl salt-resistant James Malone RGD:1582184 Dahl salt-sensitive James Malone RGD:1582190 WKY James Malone RGD:61103 Sprague Dawley James Malone NIFSTD:birnlex_214 NIFSTD:birnlex_266 RGD:70508 Rats, Sprague Dawley Rats, Sprague Dawley[accessedResource: NIFSTD:birnlex_266][accessDate: 05-04-2011] Sprague-Dawley rat Sprague-Dawley rat[accessedResource: NIFSTD:birnlex_266][accessDate: 05-04-2011] Sprague-Dawley rats Sprague-Dawley rats[accessedResource: NIFSTD:birnlex_266][accessDate: 05-04-2011] Tomasz Adamusiak Lewis James Malone RGD:737932 SALK_037727 Germplasm:4640315 James Malone SALK_037727 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?type=germplasm&id=4640315 infant James Malone MIAA:0000402 NIFSTD:birnlex_438 NIFSTD:birnlex_695 Tomasz Adamusiak familial amyotrophic lateral sclerosis Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists. James Malone OMIM:105400 Tomasz Adamusiak sporadic amyotrophic lateral sclerosis James Malone OMIM:105400 Sporadic amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which there is no known cause, such as no family history. Tomasz Adamusiak post-traumatic stress disorder A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH). A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).[accessedResource: NIFSTD:birnlex_12679][accessDate: 05-04-2011] A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event. A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.[accessedResource: MSH:D013313][accessDate: 05-04-2011] ACUTE POST TRAUMATIC STRESS DIS ACUTE POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011] Acute Post Traumatic Stress Disorder Acute Post Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011] Acute Post-Traumatic Stress Disorder Acute Post-Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011] An anxiety disease which results from a traumatic experience that results in psychological trauma. An anxiety disease which results from a traumatic experience that results in psychological trauma.[accessedResource: DOID:2055][accessDate: 05-04-2011] An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term. An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.[accessedResource: NCIt:C3389][accessDate: 05-04-2011] CHRONIC POST TRAUMATIC STRESS DIS CHRONIC POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011] Chronic Post Traumatic Stress Disorder Chronic Post Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011] Chronic Post-Traumatic Stress Disorder Chronic Post-Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011] DELAYED ONSET POST TRAUMATIC STRESS DIS DELAYED ONSET POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011] DOID:2055 Delayed Onset Post Traumatic Stress Disorder Delayed Onset Post Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011] Delayed Onset Post-Traumatic Stress Disorder Delayed Onset Post-Traumatic Stress Disorder[accessedResource: MSH:D013313][accessDate: 05-04-2011] GeneRIF:12232785 ICD9:309.81 James Malone MSH:D013313 NCIt:C3389 NIFSTD:birnlex_12679 Neuroses, Post Traumatic Neuroses, Post Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Neuroses, Post-Traumatic Neuroses, Post-Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Neuroses, Posttraumatic Neuroses, Posttraumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] POST TRAUMATIC STRESS DIS POST TRAUMATIC STRESS DIS[accessedResource: MSH:D013313][accessDate: 05-04-2011] POSTTRAUMATIC STRESS DIS POSTTRAUMATIC STRESS DISORDERS POSTTRAUMATIC STRESS DISORDERS[accessedResource: MSH:D013313][accessDate: 05-04-2011] POSTTRAUMATIC STRESS DIS[accessedResource: ICD9:309.81][accessDate: 05-04-2011] PTSD PTSD - Post-traumatic stress disorder PTSD - Post-traumatic stress disorder[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011] PTSD[accessedResource: MSH:D013313][accessDate: 05-04-2011] Post Traumatic Stress Disorders Post Traumatic Stress Disorders[accessedResource: MSH:D013313][accessDate: 05-04-2011] Post-Traumatic Neuroses Post-Traumatic Neuroses[accessedResource: MSH:D013313][accessDate: 05-04-2011] Post-Traumatic Neurosis Post-Traumatic Neurosis[accessedResource: NIFSTD:birnlex_12679][accessDate: 05-04-2011] Post-Traumatic Stress Disorders Post-Traumatic Stress Disorders[accessedResource: MSH:D013313][accessDate: 05-04-2011] Post-traumatic stress syndrome Post-traumatic stress syndrome[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011] Posttraumatic Neuroses Posttraumatic Neuroses[accessedResource: MSH:D013313][accessDate: 05-04-2011] Posttraumatic stress disorder Posttraumatic stress disorder (disorder) Posttraumatic stress disorder (disorder)[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011] Posttraumatic stress disorder, NOS Posttraumatic stress disorder, NOS[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011] Posttraumatic stress disorder[accessedResource: SNOMEDCT:47505003][accessDate: 05-04-2011] SNOMEDCT:47505003 STRESS DIS POST TRAUMATIC STRESS DIS POST TRAUMATIC[accessedResource: MSH:D013313][accessDate: 05-04-2011] STRESS DIS POSTTRAUMATIC STRESS DIS POSTTRAUMATIC[accessedResource: MSH:D013313][accessDate: 05-04-2011] Stress Disorder, Post Traumatic Stress Disorder, Post Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Stress Disorder, Post-Traumatic Stress Disorder, Post-Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Stress Disorder, Posttraumatic Stress Disorder, Posttraumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Stress Disorders, Post Traumatic Stress Disorders, Post Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Stress Disorders, Post-Traumatic Stress Disorders, Post-Traumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Stress Disorders, Posttraumatic Stress Disorders, Posttraumatic[accessedResource: MSH:D013313][accessDate: 05-04-2011] Tomasz Adamusiak disorder, post-traumatic stress disorder, post-traumatic stress[accessedResource: NCIt:C3389][accessDate: 05-04-2011] post-traumatic stress disease post-traumatic stress disease[accessedResource: DOID:2055][accessDate: 05-04-2011] traumatic neurosis traumatic neurosis[accessedResource: DOID:2055][accessDate: 05-04-2011] type I diabetes mellitus A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence. A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.[accessedResource: MSH:D003922][accessDate: 05-04-2011] An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas. An autoimmune disease of endocrine system and is_a diabetes mellitus that results from autoimmune destruction of insulin-producing beta cells of the pancreas.[accessedResource: DOID:9744][accessDate: 05-04-2011] Autoimmune Diabete Autoimmune Diabete[accessedResource: MSH:D003922][accessDate: 05-04-2011] Autoimmune Diabetes Autoimmune Diabetes[accessedResource: MSH:D003922][accessDate: 05-04-2011] Brittle Diabetes Mellitus Brittle Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011] DIABETES MELLITUS TYPE 01 DIABETES MELLITUS TYPE 01[accessedResource: MSH:D003922][accessDate: 05-04-2011] DMI UNSPF NT ST UNCNTRLD DMI UNSPF NT ST UNCNTRLD[accessedResource: ICD9:250.91][accessDate: 05-04-2011] DMI UNSPF UNCNTRLD DMI UNSPF UNCNTRLD[accessedResource: ICD9:250.93][accessDate: 05-04-2011] DOID:9744 Diabete, Autoimmune Diabete, Autoimmune[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Brittle Diabetes Mellitus, Brittle[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Insulin Dependent Diabetes Mellitus, Insulin Dependent[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus, Insulin-Dependent[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Juvenile Onset Diabetes Mellitus, Juvenile Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Juvenile-Onset Diabetes Mellitus, Juvenile-Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Ketosis Prone Diabetes Mellitus, Ketosis Prone[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Ketosis-Prone Diabetes Mellitus, Ketosis-Prone[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Sudden Onset Diabetes Mellitus, Sudden Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Sudden-Onset Diabetes Mellitus, Sudden-Onset[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Type 1 Diabetes Mellitus, Type 1[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes Mellitus, Type I Diabetes Mellitus, Type I[accessedResource: MSH:D003922][accessDate: 05-04-2011] Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence. Diabetes mellitus characterized by insulin deficiency, sudden onset, severe hyperglycemia, rapid progression to ketoacidosis, and death unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.[accessedResource: NCIt:C2986][accessDate: 05-04-2011] Diabetes mellitus type 1 Diabetes mellitus type 1 (disorder) Diabetes mellitus type 1 (disorder)[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011] Diabetes mellitus type I Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], not stated as uncontrolled, with unspecified complication[accessedResource: ICD9:250.91][accessDate: 05-04-2011] Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication Diabetes mellitus type I [insulin dependent type] [IDDM] [juvenile type], uncontrolled, with unspecified complication[accessedResource: ICD9:250.93][accessDate: 05-04-2011] Diabetes mellitus type I[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011] Diabetes, Autoimmune Diabetes, Autoimmune[accessedResource: MSH:D003922][accessDate: 05-04-2011] GeneRIF:11286636 GeneRIF:11466400 GeneRIF:11841494 GeneRIF:11845233 GeneRIF:11914751 GeneRIF:11916169 GeneRIF:11916171 GeneRIF:11943852 GeneRIF:11975985 GeneRIF:11981430 GeneRIF:12004163 GeneRIF:12021138 GeneRIF:12021142 GeneRIF:12021143 GeneRIF:12039523 GeneRIF:12083814 GeneRIF:12086959 GeneRIF:12107733 GeneRIF:12118252 GeneRIF:12153746 GeneRIF:12185534 GeneRIF:12187923 GeneRIF:12187924 GeneRIF:12189440 GeneRIF:12200073 GeneRIF:12221281 GeneRIF:12351483 GeneRIF:12351486 GeneRIF:12381897 GeneRIF:12457456 GeneRIF:12479587 GeneRIF:12622777 GeneRIF:12663624 GeneRIF:12743700 GeneRIF:12788886 GeneRIF:12819903 GeneRIF:12874455 GeneRIF:12878786 GeneRIF:12951629 GeneRIF:14557453 GeneRIF:14563018 GeneRIF:14583186 GeneRIF:14614560 GeneRIF:14633852 GeneRIF:14962949 GeneRIF:15189740 GeneRIF:15208781 GeneRIF:15483661 GeneRIF:15786423 GeneRIF:15928253 GeneRIF:15950078 GeneRIF:16054858 ICD9:250.91 ICD9:250.93 IDDM IDDM - Insulin-dependent diabetes mellitus IDDM - Insulin-dependent diabetes mellitus[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011] IDDM[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011] Insulin Dependent Diabetes Insulin Dependent Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011] Insulin dependent diabetes mellitus Insulin dependent diabetes mellitus[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011] Insulin-Dependent Diabetes Mellitus Insulin-Dependent Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011] James Malone Juvenile Diabetes Juvenile Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011] Juvenile onset diabetes mellitus Juvenile onset diabetes mellitus[accessedResource: SNOMEDCT:46635009][accessDate: 05-04-2011] Juvenile-Onset Diabetes Mellitus Juvenile-Onset Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011] Ketosis-Prone Diabetes Mellitus Ketosis-Prone Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011] MSH:D003922 Mellitus, Sudden-Onset Diabetes Mellitus, Sudden-Onset Diabetes[accessedResource: MSH:D003922][accessDate: 05-04-2011] NCIt:C2986 OMIM:222100 SNOMEDCT:46635009 Sudden-Onset Diabetes Mellitus Sudden-Onset Diabetes Mellitus[accessedResource: MSH:D003922][accessDate: 05-04-2011] Tomasz Adamusiak Type 1 Diabetes Type 1 Diabetes Mellitus Type 1 Diabetes Mellitus[accessedResource: NCIt:C2986][accessDate: 05-04-2011] Type 1 Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011] Type I Diabetes Type I Diabetes[accessedResource: NCIt:C2986][accessDate: 05-04-2011] diabetes mellitus type 1[accessedResource: DOID:9744][accessDate: 05-04-2011] true type II diabetes mellitus A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY. A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.[accessedResource: MSH:D003924][accessDate: 05-04-2011] A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity. A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.[accessedResource: NCIt:C26747][accessDate: 05-04-2011] Adult-Onset Diabetes Adult-Onset Diabetes Mellitus Adult-Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011] Adult-Onset Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011] DIABETES MELLITUS TYPE 02 DIABETES MELLITUS TYPE 02[accessedResource: MSH:D003924][accessDate: 05-04-2011] DOID:9352 Diabetes Mellitus, Adult Onset Diabetes Mellitus, Adult Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Adult-Onset Diabetes Mellitus, Adult-Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Ketosis Resistant Diabetes Mellitus, Ketosis Resistant[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Ketosis-Resistant Diabetes Mellitus, Ketosis-Resistant[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Maturity Onset Diabetes Mellitus, Maturity Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Maturity-Onset Diabetes Mellitus, Maturity-Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Non Insulin Dependent Diabetes Mellitus, Non Insulin Dependent[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus, Non-Insulin-Dependent[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Noninsulin Dependent Diabetes Mellitus, Noninsulin Dependent[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Slow Onset Diabetes Mellitus, Slow Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Slow-Onset Diabetes Mellitus, Slow-Onset[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Stable Diabetes Mellitus, Stable[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Type 2 Diabetes Mellitus, Type 2[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes Mellitus, Type II Diabetes Mellitus, Type II[accessedResource: MSH:D003924][accessDate: 05-04-2011] Diabetes, Type 2 Diabetes, Type 2[accessedResource: NCIt:C26747][accessDate: 05-04-2011] Ketosis-Resistant Diabetes Mellitus Ketosis-Resistant Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011] MODY MODY[accessedResource: MSH:D003924][accessDate: 05-04-2011] MSH:D003924 Maturity Onset Diabetes Mellitus Maturity Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011] Maturity-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011] NCIt:C26747 NIDDM NIDDM[accessedResource: MSH:D003924][accessDate: 05-04-2011] Non-Insulin Dependent Diabetes Non-Insulin Dependent Diabetes Mellitus Non-Insulin Dependent Diabetes Mellitus[accessedResource: NCIt:C26747][accessDate: 05-04-2011] Non-Insulin Dependent Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011] OMIM:125853 Slow-Onset Diabetes Mellitus Slow-Onset Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011] Stable Diabetes Mellitus Stable Diabetes Mellitus[accessedResource: MSH:D003924][accessDate: 05-04-2011] T2DM - Type 2 Diabetes mellitus T2DM - Type 2 Diabetes mellitus[accessedResource: NCIt:C26747][accessDate: 05-04-2011] Tomasz Adamusiak Type 2 Diabetes Type 2 Diabetes Mellitus Type 2 Diabetes Mellitus Non-Insulin Dependent Type 2 Diabetes Mellitus Non-Insulin Dependent[accessedResource: NCIt:C26747][accessDate: 05-04-2011] Type 2 Diabetes Mellitus[accessedResource: NCIt:C26747][accessDate: 05-04-2011] Type 2 Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011] Type II Diabetes Type II Diabetes[accessedResource: NCIt:C26747][accessDate: 05-04-2011] diabetes mellitus type 2 diabetes mellitus type 2[accessedResource: DOID:9352][accessDate: 05-04-2011] non-insulin-dependent diabetes mellitus non-insulin-dependent diabetes mellitus[accessedResource: DOID:9352][accessDate: 05-04-2011] true pulmonary hypertension A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA. A syndrome with pathological changes in the pulmonary arteries and impaired PULMONARY CIRCULATION that can be the result of PULMONARY HYPERTENSION. Ayerza syndrome is characterized by slowly developing ASTHMA; BRONCHITIS; DYSPNEA; and CYANOSIS in association with POLYCYTHEMIA.[accessedResource: MSH:D006976][accessDate: 05-04-2011] Ayerza Arrilaga Syndrome Ayerza Arrilaga Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011] Ayerza Syndrome Ayerza Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011] Ayerza's Syndrome Ayerza's Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011] Ayerza-Arrilaga Syndrome Ayerza-Arrilaga Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011] Ayerzas Syndrome Ayerzas Syndrome[accessedResource: MSH:D006976][accessDate: 05-04-2011] DOID:6432 GeneRIF:12016106 GeneRIF:12177436 GeneRIF:12244304 GeneRIF:12358323 GeneRIF:12391106 GeneRIF:12391278 GeneRIF:12547729 GeneRIF:12714563 GeneRIF:12740218 GeneRIF:12750401 GeneRIF:12835224 GeneRIF:12896876 GeneRIF:12909593 GeneRIF:14507115 GeneRIF:14512515 GeneRIF:14530202 GeneRIF:14684682 GeneRIF:14715505 GeneRIF:14726295 GeneRIF:14759414 GeneRIF:14970910 GeneRIF:15031260 GeneRIF:15146952 GeneRIF:15155268 GeneRIF:15192043 GeneRIF:15217799 GeneRIF:15242552 GeneRIF:15286002 GeneRIF:15295086 GeneRIF:15331358 GeneRIF:15353500 GeneRIF:15358862 GeneRIF:15364894 GeneRIF:15505094 GeneRIF:15516492 GeneRIF:15520307 GeneRIF:15618545 GeneRIF:15684702 GeneRIF:15687131 GeneRIF:15725412 GeneRIF:15761249 GeneRIF:15824199 GeneRIF:15979050 GeneRIF:16085672 GeneRIF:16113050 GeneRIF:16215633 GeneRIF:16236896 HYPERTENSION PULM HYPERTENSION PULM[accessedResource: MSH:D006976][accessDate: 05-04-2011] Hypertension, Pulmonary Hypertension, Pulmonary[accessedResource: MSH:D006976][accessDate: 05-04-2011] Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES. Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.[accessedResource: MSH:D006976][accessDate: 05-04-2011] James Malone MSH:D006976 PHT - Pulmonary hypertension PHT - Pulmonary hypertension[accessedResource: SNOMEDCT:70995007][accessDate: 05-04-2011] PULM HYPERTENSION PULM HYPERTENSION[accessedResource: MSH:D006976][accessDate: 05-04-2011] Pulmonary hypertension (disorder)[accessedResource: SNOMEDCT:70995007][accessDate: 05-04-2011] Pulmonary hypertension, NOS Pulmonary hypertension, NOS[accessedResource: SNOMEDCT:70995007][accessDate: 05-04-2011] SNOMEDCT:70995007 Syndrome, Ayerza Syndrome, Ayerza-Arrilaga Syndrome, Ayerza-Arrilaga[accessedResource: MSH:D006976][accessDate: 05-04-2011] Syndrome, Ayerza[accessedResource: MSH:D006976][accessDate: 05-04-2011] pulmonary hypertension (disorder) obsolete_pulmonary arterial hypertension 1.8 Increased pressure within the pulmonary circulation due to lung or heart disorder. James Malone NCIt:C3120 duplicate of pulmonary hypertension EFO_0001361 true inner ear structure BTO:0000630 James Malone MIAA:0000145 The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea. The essential organ of hearing and equilibrium that is located in the temporal bone, is innervated by the auditory nerve, and includes the vestibule, the semicircular canals, and the cochlea.[accessedResource: BTO:0000630][accessDate: 05-04-2011] auris interna inner ear inner ear[accessedResource: BTO:0000630][accessDate: 05-04-2011] internal ear organ of corti BTO:0001691 Corti's organ James Malone NCIt:C33223 Spiral Organ of Corti Spiral Organ of Corti[accessedResource: NCIt:C33223][accessDate: 05-04-2011] The organ, resting on the basilar membrane in the cochlear duct, that contains the special sensory receptors for hearing; it consists of neuroepithelial hair cells and several types of supporting cells, including the inner and outer pillar cells, inner and outer phalangeal cells, border cells, and Hensen's cells. The organ, resting on the basilar membrane in the cochlear duct, that contains the special sensory receptors for hearing; it consists of neuroepithelial hair cells and several types of supporting cells, including the inner and outer pillar cells, inner and outer phalangeal cells, border cells, and Hensen's cells.[accessedResource: BTO:0001691][accessDate: 05-04-2011] basilar papilla organum spirale spiral organ spiral organ[accessedResource: BTO:0001691][accessDate: 05-04-2011] age-related macular degeneration AAMD - Age related macular degeneration AAMD - Age related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011] AGE RELAT MACULOPATHIES AGE RELAT MACULOPATHIES[accessedResource: MSH:D008268][accessDate: 05-04-2011] AGE RELAT MACULOPATHY AGE RELAT MACULOPATHY[accessedResource: MSH:D008268][accessDate: 05-04-2011] AMD - Age-related macular degeneration AMD - Age-related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011] ARMD ARMD - Age-related macular degeneration ARMD - Age-related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011] Age Related Macular Degeneration Age Related Maculopathies Age Related Maculopathies[accessedResource: MSH:D008268][accessDate: 05-04-2011] Age related macular degeneration (disorder) [Ambiguous] Age related macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011] Age related maculopathy Age related maculopathy[accessedResource: NIFSTD:birnlex_12812][accessDate: 05-04-2011] Age-Related Macular Degenerations Age-Related Macular Degenerations[accessedResource: MSH:D008268][accessDate: 05-04-2011] Age-Related Maculopathies Age-Related Maculopathies[accessedResource: MSH:D008268][accessDate: 05-04-2011] Age-Related Maculopathy Age-Related Maculopathy[accessedResource: MSH:D008268][accessDate: 05-04-2011] Age-related macular degeneration (disorder) Age-related macular degeneration (disorder)[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011] Amended DOID:10871 Degeneration, Age-Related Macular Degeneration, Age-Related Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011] Degeneration, Macular Degeneration, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011] Degenerations, Age-Related Macular Degenerations, Age-Related Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011] Degenerations, Macular Degenerations, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011] Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms. Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.[accessedResource: MSH:D008268][accessDate: 05-04-2011] Degenerative changes in the macula lutea of the retina. Dystrophies, Macular Dystrophies, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011] Dystrophy, Macular Dystrophy, Macular[accessedResource: MSH:D008268][accessDate: 05-04-2011] GeneRIF:11919200 GeneRIF:12005165 GeneRIF:12099691 GeneRIF:12242346 GeneRIF:12427233 GeneRIF:12592048 GeneRIF:12742846 GeneRIF:12882809 GeneRIF:12902384 GeneRIF:14587307 GeneRIF:14597045 GeneRIF:14609921 GeneRIF:15028284 GeneRIF:15111581 GeneRIF:15208270 GeneRIF:15479453 GeneRIF:15761120 GeneRIF:15761121 GeneRIF:15761122 GeneRIF:15829498 GeneRIF:16079201 ICD9:362.50 James Malone MACULAR DEGENERATION NOS MACULAR DEGENERATION NOS[accessedResource: ICD9:362.50][accessDate: 05-04-2011] MACULOPATHIES AGE RELAT MACULOPATHIES AGE RELAT[accessedResource: MSH:D008268][accessDate: 05-04-2011] MACULOPATHY AGE RELAT MACULOPATHY AGE RELAT[accessedResource: MSH:D008268][accessDate: 05-04-2011] MSH:D008268 Macular Degeneration Macular Degeneration, Age-Related Macular Degeneration, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011] Macular Degeneration[accessedResource: MSH:D008268][accessDate: 05-04-2011] Macular Degenerations Macular Degenerations, Age-Related Macular Degenerations, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011] Macular Degenerations[accessedResource: MSH:D008268][accessDate: 05-04-2011] Macular Dystrophies Macular Dystrophies[accessedResource: MSH:D008268][accessDate: 05-04-2011] Macular Dystrophy Macular Dystrophy[accessedResource: MSH:D008268][accessDate: 05-04-2011] Macular degeneration (disorder) Macular degeneration (disorder)[accessedResource: SNOMEDCT:302891003][accessDate: 05-04-2011] Macular degeneration (senile) of retina, unspecified Macular degeneration (senile) of retina, unspecified[accessedResource: ICD9:362.50][accessDate: 05-04-2011] Maculopathies, Age Related Maculopathies, Age Related[accessedResource: MSH:D008268][accessDate: 05-04-2011] Maculopathies, Age-Related Maculopathies, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011] Maculopathy, Age Related Maculopathy, Age Related[accessedResource: MSH:D008268][accessDate: 05-04-2011] Maculopathy, Age-Related Maculopathy, Age-Related[accessedResource: MSH:D008268][accessDate: 05-04-2011] NIFSTD:birnlex_12812 OMIM:153800 SMD - Senile macular degeneration SMD - Senile macular degeneration[accessedResource: SNOMEDCT:267718000][accessDate: 05-04-2011] SNOMEDCT:267718000 SNOMEDCT:302891003 Senile macular degeneration Senile macular degeneration of retina Senile macular degeneration of retina[accessedResource: NIFSTD:birnlex_12812][accessDate: 05-04-2011] Senile macular degeneration[accessedResource: NIFSTD:birnlex_12812][accessDate: 05-04-2011] Senile macular retinal degeneration Senile macular retinal degeneration[accessedResource: SNOMEDCT:302891003][accessDate: 05-04-2011] Tomasz Adamusiak Unspecified senile macular degeneration true dentate gyrus A serrated strip of gray matter under the medial border of the hippocampus and in its depths; it is an archaeocortex which develops along the edge of the hippocampal fissure and which consists of molecular, granular, and polymorphic layers. A serrated strip of gray matter under the medial border of the hippocampus and in its depths; it is an archaeocortex which develops along the edge of the hippocampal fissure and which consists of molecular, granular, and polymorphic layers.[accessedResource: BTO:0002496][accessDate: 05-04-2011] BTO:0002496 EMAPA:19148 EV:0100180 James Malone MA:0000191 MAT:0000114 NIFSTD:birnlex_1178 Part of the hippocampal formation forming a "V" or "U" shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer. Part of the hippocampal formation forming a "V" or "U" shaped structure with the opening bounded by hippocampal area CA3. It consists of 3 layers from superficial to deep: molecular, granule cell and polymorphic or hilar layer.[accessedResource: NIFSTD:birnlex_1178][accessDate: 05-04-2011] SAEL:51 Tomasz Adamusiak fascia dentata fascia dentata[accessedResource: NIFSTD:birnlex_1178][accessDate: 05-04-2011] gyrus dentatus hippocampal dentate gyrus hippocampus[accessedResource: MAT:0000114][accessDate: 05-04-2011] embryo stage Embryologic Embryologic[accessedResource: NCIt:C28147][accessDate: 05-04-2011] James Malone NCIt:C28147 embryo early (growth) stage An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination. embryo obsolete_intercostal muscle A muscle located between two ribs. A muscle located between two ribs.[accessedResource: NCIt:C32824][accessDate: 05-04-2011] FMA:13354 James Malone NCIt:C32824 Respiratory Muscles Respiratory Muscles[accessedResource: NCIt:C32824][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001111 label: intercostal muscle vertebral column structure AAO:0000034 Backbone Backbone[accessedResource: FMAID:13478][accessDate: 05-04-2011] EHDAA:5049 EMAPA:17214 FMAID:13478 James Malone MA:0000308 NIFSTD:sao1145756102 SAEL:121 Spinal column Spinal column[accessedResource: FMAID:13478][accessDate: 05-04-2011] Spine Spine[accessedResource: FMAID:13478][accessDate: 05-04-2011] TAO:0000317 The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins. The post-cranial structural components forming the long axis of the vertebrate body; in Danio, consisting of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[accessedResource: ZFA:0000317][accessDate: 05-04-2011] The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins. The post-cranial structural components forming the long axis of the vertebrate body; usually consists of the notochord, vertebrae, ribs, supraneurals, intermuscular bones, and unpaired median fins.[accessedResource: TAO:0000317][accessDate: 05-04-2011] Tomasz Adamusiak Vertebral column[accessedResource: FMAID:13478][accessDate: 05-04-2011] ZFA:0000317 axial skeleton axial skeleton[accessedResource: TAO:0000317][accessDate: 05-04-2011] postcranial axial skeleton postcranial axial skeleton[accessedResource: TAO:0000317][accessDate: 05-04-2011] vertebral column obsolete_intervertebral disc FMA:10446 Intervertebral disk Intervertebral disk[accessedResource: FMA:10446][accessDate: 05-04-2011] James Malone MA:0000110 Use http://purl.obolibrary.org/obo/UBERON_0001066 label: intervertebral disk true 2.38 obsolete_vertebra FMA:9914 Irregular bone that articulates with other vertebrae, or with one other vertebra and the skull or the sacrum James Malone MA:0000309 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002412 label: vertebra neonate An infant during the first month after birth. An infant during the first month after birth.[accessedResource: NCIt:C16731][accessDate: 05-04-2011] James Malone NCIt:C16731 NEWBORN (0-27 DAYS) NEWBORN (0-27 DAYS)[accessedResource: NCIt:C16731][accessDate: 05-04-2011] NIFSTD:birnlex_429 NIFSTD:birnlex_699 Neonatal Neonatal[accessedResource: NCIt:C16731][accessDate: 05-04-2011] Newborn Newborn[accessedResource: NIFSTD:birnlex_429][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_precentral gyrus FMA:61894 James Malone NCIt:C33393 Precentral convolution Precentral convolution[accessedResource: FMA:61894][accessDate: 05-04-2011] Prerolandic gyrus Prerolandic gyrus[accessedResource: FMA:61894][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002703 label: precentral gyrus synovial sarcoma A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363) A malignant neoplasm arising from tenosynovial tissue of the joints and in synovial cells of tendons and bursae. The legs are the most common site, but the tumor can occur in the abdominal wall and other trunk muscles. There are two recognized types: the monophasic (characterized by sheaths of monotonous spindle cells) and the biphasic (characterized by slit-like spaces or clefts within the tumor, lined by cuboidal or tall columnar epithelial cells). These sarcomas occur most commonly in the second and fourth decades of life. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1363)[accessedResource: MSH:D013584][accessDate: 05-04-2011] A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11). It can occur at any age, but mainly affects young adults, more commonly males. Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee. Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components). Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes. A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11). It can occur at any age, but mainly affects young adults, more commonly males. Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee. Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components). Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes.[accessedResource: NCIt:C3400][accessDate: 05-04-2011] DOID:5485 GeneRIF:11733362 GeneRIF:11895494 GeneRIF:12037676 GeneRIF:12696068 GeneRIF:12874758 GeneRIF:14507652 GeneRIF:14871970 GeneRIF:15069540 GeneRIF:15467754 GeneRIF:15735574 GeneRIF:16029077 GeneRIF:16158422 James Malone MSH:D013584 Malignant synovioma Malignant synovioma[accessedResource: SNOMEDCT:302851001][accessDate: 05-04-2011] NCIt:C3400 OMIM:300813 SNOMEDCT:302851001 SNOMEDCT:63211008 SS SS[accessedResource: NCIt:C3400][accessDate: 05-04-2011] Sarcoma, Synovial Sarcoma, Synovial[accessedResource: MSH:D013584][accessDate: 05-04-2011] Sarcomas, Synovial Sarcomas, Synovial[accessedResource: MSH:D013584][accessDate: 05-04-2011] Synovial Sarcomas Synovial Sarcomas[accessedResource: MSH:D013584][accessDate: 05-04-2011] Synovial sarcoma (disorder) Synovial sarcoma (disorder)[accessedResource: DOID:5485][accessDate: 05-04-2011] Synovial sarcoma (morphologic abnormality) Synovial sarcoma (morphologic abnormality)[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011] Synovial sarcoma, NOS Synovial sarcoma, NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011] Synovioma Synovioma, NOS Synovioma, NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011] Synovioma, malignant Synovioma, malignant[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011] Synovioma[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011] Synoviomas Synoviomas[accessedResource: MSH:D013584][accessDate: 05-04-2011] Tomasz Adamusiak [M]Synovial sarcoma NOS [M]Synovial sarcoma NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011] [M]Synovioma NOS [M]Synovioma NOS[accessedResource: SNOMEDCT:63211008][accessDate: 05-04-2011] multiple myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001) A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)[accessedResource: NCIt:C3242][accessDate: 05-04-2011] A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY. A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.[accessedResource: MSH:D009101][accessDate: 05-04-2011] A myeloma that is located_in the plasma cells in bone marrow. A myeloma that is located_in the plasma cells in bone marrow.[accessedResource: DOID:9538][accessDate: 05-04-2011] Cell Myeloma, Plasma Cell Myeloma, Plasma[accessedResource: MSH:D009101][accessDate: 05-04-2011] Cell Myelomas, Plasma Cell Myelomas, Plasma[accessedResource: MSH:D009101][accessDate: 05-04-2011] DOID:9538 Disease, Kahler Disease, Kahler[accessedResource: MSH:D009101][accessDate: 05-04-2011] GeneRIF:11568006 GeneRIF:11745168 GeneRIF:11792572 GeneRIF:11830480 GeneRIF:11830493 GeneRIF:11830495 GeneRIF:11839670 GeneRIF:11840273 GeneRIF:11872084 GeneRIF:11877256 GeneRIF:11877293 GeneRIF:11877294 GeneRIF:11877296 GeneRIF:11896542 GeneRIF:11902142 GeneRIF:11918087 GeneRIF:11940485 GeneRIF:11985783 GeneRIF:12001122 GeneRIF:12002771 GeneRIF:12070027 GeneRIF:12070032 GeneRIF:12161360 GeneRIF:12199782 GeneRIF:12200385 GeneRIF:12200397 GeneRIF:12231535 GeneRIF:12239172 GeneRIF:12351414 GeneRIF:12368157 GeneRIF:12377412 GeneRIF:12393489 GeneRIF:12393542 GeneRIF:12430875 GeneRIF:12433678 GeneRIF:12433679 GeneRIF:12456503 GeneRIF:12459170 GeneRIF:12471202 GeneRIF:12517814 GeneRIF:12543106 GeneRIF:12560229 GeneRIF:12569357 GeneRIF:12574959 GeneRIF:12576455 GeneRIF:12604407 GeneRIF:12626569 GeneRIF:12649140 GeneRIF:12651942 GeneRIF:12660820 GeneRIF:12665525 GeneRIF:12682635 GeneRIF:12707028 GeneRIF:12743296 GeneRIF:12791655 GeneRIF:12845688 GeneRIF:12855565 GeneRIF:12888915 GeneRIF:12931219 GeneRIF:12969979 GeneRIF:12970749 GeneRIF:14512299 GeneRIF:14513045 GeneRIF:14513053 GeneRIF:14514474 GeneRIF:14592826 GeneRIF:14656874 GeneRIF:14671622 GeneRIF:14677065 GeneRIF:14692531 GeneRIF:14715624 GeneRIF:14755377 GeneRIF:14976049 GeneRIF:15000866 GeneRIF:15003892 GeneRIF:15010462 GeneRIF:15041705 GeneRIF:15061198 GeneRIF:15070695 GeneRIF:15070697 GeneRIF:15070700 GeneRIF:15138161 GeneRIF:15172968 GeneRIF:15199411 GeneRIF:15203873 GeneRIF:15205949 GeneRIF:15215163 GeneRIF:15458509 GeneRIF:15471949 GeneRIF:15475450 GeneRIF:15479729 GeneRIF:15512823 GeneRIF:15534117 GeneRIF:15583754 GeneRIF:15626731 GeneRIF:15657357 GeneRIF:15671442 GeneRIF:15677557 GeneRIF:15692064 GeneRIF:15692072 GeneRIF:15705883 GeneRIF:15725479 GeneRIF:15731173 GeneRIF:15731178 GeneRIF:15735670 GeneRIF:15753365 GeneRIF:15788896 GeneRIF:15878977 GeneRIF:15899516 GeneRIF:15902294 GeneRIF:15920166 GeneRIF:15933061 GeneRIF:15940250 GeneRIF:16002735 GeneRIF:16026644 GeneRIF:16030194 GeneRIF:16044163 GeneRIF:16091744 ICD9:203.0 ICD9:203.00 James Malone Kahler disease Kahler disease[accessedResource: NCIt:C3242][accessDate: 05-04-2011] Kahler's disease Kahler's disease[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011] MSH:D009101 MULT MYE W/O ACHV RMSON MULT MYE W/O ACHV RMSON[accessedResource: ICD9:203.00][accessDate: 05-04-2011] MULT MYELM W/O REMISSION Multiple Myelomas Multiple Myelomas[accessedResource: MSH:D009101][accessDate: 05-04-2011] Multiple myeloma (clinical) Multiple myeloma (clinical)[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011] Multiple myeloma (disorder) Multiple myeloma (disorder)[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011] Multiple myeloma without mention of having achieved remission Multiple myeloma without mention of having achieved remission[accessedResource: ICD9:203.00][accessDate: 05-04-2011] Multiple myeloma without mention of remission Multiple myeloma, morphology (morphologic abnormality) Multiple myeloma, morphology (morphologic abnormality)[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011] Multiple myeloma, no ICD-O subtype Multiple myeloma, no ICD-O subtype (morphologic abnormality) Multiple myeloma, no ICD-O subtype (morphologic abnormality)[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011] Multiple myeloma, no ICD-O subtype[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011] Myeloma Myeloma Multiple Myeloma Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myeloma, Multiple Myeloma, Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myeloma, NOS Myeloma, NOS[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011] Myeloma, Plasma Cell Myeloma, Plasma Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myeloma, Plasma-Cell Myeloma, Plasma-Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myeloma-Multiple Myeloma-Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myeloma-Multiples Myeloma-Multiples[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myeloma[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011] Myelomas, Multiple Myelomas, Multiple[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myelomas, Plasma Cell Myelomas, Plasma Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myelomas, Plasma-Cell Myelomas, Plasma-Cell[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myelomatoses Myelomatoses[accessedResource: MSH:D009101][accessDate: 05-04-2011] Myelomatosis Myelomatosis[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011] NCIt:C3242 Plasma Cell Myeloma Plasma Cell Myeloma[accessedResource: NCIt:C3242][accessDate: 05-04-2011] Plasma Cell Myelomas Plasma Cell Myelomas[accessedResource: MSH:D009101][accessDate: 05-04-2011] Plasma-Cell Myeloma Plasma-Cell Myeloma[accessedResource: MSH:D009101][accessDate: 05-04-2011] Plasma-Cell Myelomas Plasma-Cell Myelomas[accessedResource: MSH:D009101][accessDate: 05-04-2011] Plasmacytic myeloma Plasmacytic myeloma[accessedResource: SNOMEDCT:109989006][accessDate: 05-04-2011] SNOMEDCT:109989006 SNOMEDCT:55921005 Tomasz Adamusiak [M]Plasma cell myeloma [M]Plasma cell myeloma[accessedResource: SNOMEDCT:55921005][accessDate: 05-04-2011] endocrine system disease Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs. Any deviation from the normal structure or function of the endocrine system that is manifested by a characteristic set of symptoms and signs.[accessedResource: NCIt:C3009][accessDate: 05-04-2011] DIS ENDOCRINE SYSTEM DIS ENDOCRINE SYSTEM[accessedResource: MSH:D004700][accessDate: 05-04-2011] DOID:28 Disease of endocrine gland Disease of endocrine gland[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] Disease, Endocrine Disease, Endocrine System Disease, Endocrine System[accessedResource: MSH:D004700][accessDate: 05-04-2011] Disease, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011] Diseases of Endocrine System Diseases of Endocrine System[accessedResource: MSH:D004700][accessDate: 05-04-2011] Diseases, Endocrine Diseases, Endocrine System Diseases, Endocrine System[accessedResource: MSH:D004700][accessDate: 05-04-2011] Diseases, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011] Disorder of endocrine gland Disorder of endocrine gland[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] Disorder of endocrine system Disorder of endocrine system (disorder) Disorder of endocrine system (disorder)[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] Disorder of endocrine system[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] ENDOCRINE DIS ENDOCRINE DISORDER NOS ENDOCRINE DISORDERS ENDOCRINE DISORDERS[accessedResource: NCIt:C3009][accessDate: 05-04-2011] ENDOCRINE DIS[accessedResource: MSH:D004700][accessDate: 05-04-2011] ENDOCRINE SYSTEM DIS ENDOCRINE SYSTEM DIS[accessedResource: MSH:D004700][accessDate: 05-04-2011] Endocrine Disease[accessedResource: MSH:D004700][accessDate: 05-04-2011] Endocrine Diseases Endocrine Diseases and Manifestations Endocrine Diseases and Manifestations[accessedResource: NCIt:C3009][accessDate: 05-04-2011] Endocrine Diseases[accessedResource: MSH:D004700][accessDate: 05-04-2011] Endocrine System Diseases Endocrine System Diseases[accessedResource: MSH:D004700][accessDate: 05-04-2011] Endocrine disease Endocrine disorder Endocrine disorder NOS (disorder) Endocrine disorder NOS (disorder)[accessedResource: SNOMEDCT:190594008][accessDate: 05-04-2011] Endocrine disorder NOS[accessedResource: SNOMEDCT:190594008][accessDate: 05-04-2011] Endocrine disorder[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] Endocrine disturbance Endocrine disturbance NOS Endocrine disturbance NOS (disorder) Endocrine disturbance NOS (disorder)[accessedResource: SNOMEDCT:267489000][accessDate: 05-04-2011] Endocrine disturbance NOS[accessedResource: SNOMEDCT:267489000][accessDate: 05-04-2011] Endocrine disturbance[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] Endocrine gland disease NOS Endocrine gland disease NOS (disorder) Endocrine gland disease NOS (disorder)[accessedResource: SNOMEDCT:267475005][accessDate: 05-04-2011] Endocrine gland disease NOS[accessedResource: SNOMEDCT:267475005][accessDate: 05-04-2011] Endocrinopathy Endocrinopathy, NOS Endocrinopathy[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] GeneRIF:15132716 GeneRIF:15240634 GeneRIF:15296474 GeneRIF:15736104 Hormone abnormality Hormone abnormality (finding) Hormone abnormality (finding)[accessedResource: SNOMEDCT:84452004][accessDate: 05-04-2011] Hormone abnormality[accessedResource: SNOMEDCT:84452004][accessDate: 05-04-2011] Hormone disorders Hormone disturbance Hormone disturbance NOS Hormone disturbance[accessedResource: SNOMEDCT:362969004][accessDate: 05-04-2011] ICD9:259.9 James Malone MSH:D004700 NCIt:C27565 NCIt:C3009 Non-Neoplastic Endocrine Disorder Non-Neoplastic Endocrine Disorder[accessedResource: NCIt:C27565][accessDate: 05-04-2011] Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES. Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.[accessedResource: MSH:D004700][accessDate: 05-04-2011] SNOMEDCT:190594008 SNOMEDCT:267475005 SNOMEDCT:267489000 SNOMEDCT:362969004 SNOMEDCT:84452004 System Disease, Endocrine System Disease, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011] System Diseases, Endocrine System Diseases, Endocrine[accessedResource: MSH:D004700][accessDate: 05-04-2011] Unspecified endocrine disorder Unspecified endocrine disorder[accessedResource: ICD9:259.9][accessDate: 05-04-2011] hypopituitarism A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions. A condition of diminution or cessation of secretion of one or more hormones from the anterior pituitary gland. This may result from surgical or radiation ablation, non-secretory pituitary neoplasms, metastatic tumors, infarction, pituitary apoplexy, infiltrative or granulomatous processes, and other conditions.[accessedResource: NCIt:C62591][accessDate: 05-04-2011] ADENOHYPOPHYSEAL HYPOSECRET ADENOHYPOPHYSEAL HYPOSECRET[accessedResource: MSH:D007018][accessDate: 05-04-2011] ANTERIOR PITUITARY HYPOSECRET SYNDROME ANTERIOR PITUITARY HYPOSECRET SYNDROME[accessedResource: MSH:D007018][accessDate: 05-04-2011] Adenohypophyseal Hyposecretion Adenohypophyseal Hyposecretion[accessedResource: MSH:D007018][accessDate: 05-04-2011] Anterior Pituitary Hyposecretion Syndrome Anterior Pituitary Hyposecretion Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011] DOID:9406 Deficient secretion of one OR more pituitary hormones Deficient secretion of one or more pituitary hormones[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011] Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions. Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.[accessedResource: MSH:D007018][accessDate: 05-04-2011] Disease, Simmonds Disease, Simmonds[accessedResource: MSH:D007018][accessDate: 05-04-2011] GeneRIF:12651888 GeneRIF:12717343 GeneRIF:14581620 GeneRIF:14714741 GeneRIF:15800844 GeneRIF:15928241 HYPOSECRET ADENOHYPOPHYSEAL HYPOSECRET ADENOHYPOPHYSEAL[accessedResource: MSH:D007018][accessDate: 05-04-2011] HYPOSECRET SYNDROME ANTERIOR PITUITARY HYPOSECRET SYNDROME ANTERIOR PITUITARY[accessedResource: MSH:D007018][accessDate: 05-04-2011] Hypopituitarism (disorder) Hypopituitarism (disorder)[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011] Hypopituitarism NOS Hypopituitarism NOS (disorder) Hypopituitarism NOS (disorder)[accessedResource: SNOMEDCT:237681002][accessDate: 05-04-2011] Hypopituitarism NOS[accessedResource: SNOMEDCT:237681002][accessDate: 05-04-2011] Hypopituitarism, NOS Hypopituitarism, NOS[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011] Hypopituitarism, Postpartum Hypopituitarism, Postpartum[accessedResource: MSH:D007018][accessDate: 05-04-2011] Hypopituitarism: [NOS] or [Sheehan's syndrome] or [Simmond's disease] or [Panhypopituitarism] Hyposecretion Syndrome, Anterior Pituitary Hyposecretion Syndrome, Anterior Pituitary[accessedResource: MSH:D007018][accessDate: 05-04-2011] Hyposecretion, Adenohypophyseal Hyposecretion, Adenohypophyseal[accessedResource: MSH:D007018][accessDate: 05-04-2011] Insufficiency, Pituitary Insufficiency, Pituitary[accessedResource: MSH:D007018][accessDate: 05-04-2011] James Malone MSH:D007018 NCIt:C62591 OMIM:262600 Panhypopituitarism, Postpartum[accessedResource: MSH:D007018][accessDate: 05-04-2011] Panhypopituitarism[accessedResource: MSH:D007018][accessDate: 05-04-2011] Pituitary Insufficiency, Postpartum Pituitary Insufficiency, Postpartum[accessedResource: MSH:D007018][accessDate: 05-04-2011] Pituitary Insufficiency[accessedResource: NCIt:C62591][accessDate: 05-04-2011] Pituitary deficiency[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011] Pituitary failure Pituitary failure[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011] Pituitary hypofunction Pituitary hypofunction[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011] Pituitary insufficiency Pituitary insufficiency NOS[accessedResource: DOID:9406][accessDate: 05-04-2011] Pituitary insufficiency, NOS Pituitary insufficiency, NOS[accessedResource: SNOMEDCT:74728003][accessDate: 05-04-2011] Postpartum Hypopituitarism Postpartum Hypopituitarism[accessedResource: MSH:D007018][accessDate: 05-04-2011] Postpartum Panhypopituitarism[accessedResource: MSH:D007018][accessDate: 05-04-2011] Postpartum Pituitary Insufficiency Postpartum Pituitary Insufficiency[accessedResource: MSH:D007018][accessDate: 05-04-2011] SIMMONDS DIS SIMMONDS DIS[accessedResource: MSH:D007018][accessDate: 05-04-2011] SNOMEDCT:237681002 SNOMEDCT:74728003 Sheehan Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011] Sheehan's Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011] Sheehans Syndrome[accessedResource: MSH:D007018][accessDate: 05-04-2011] Simmond's Disease Simmond's Disease[accessedResource: MSH:D007018][accessDate: 05-04-2011] Simmonds Disease Simmonds Disease[accessedResource: MSH:D007018][accessDate: 05-04-2011] Simmonds' Disease Simmonds' Disease[accessedResource: MSH:D007018][accessDate: 05-04-2011] Syndrome, Sheehan's[accessedResource: MSH:D007018][accessDate: 05-04-2011] Syndrome, Sheehan[accessedResource: MSH:D007018][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_Peyer's patch Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine esp. in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines. Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine especially in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines. Any of numerous large oval patches of closely aggregated nodules of lymphoid tissue in the walls of the small intestine especially in the ileum that partially or entirely disappear in advanced life and in typhoid fever become the seat of ulcers which may perforate the intestines.[accessedResource: BTO:0001784][accessDate: 05-04-2011] BTO:0001784 James Malone NCIt:C22562 Peyer's gland Peyer's gland[accessedResource: BTO:0001784][accessDate: 05-04-2011] Peyers Patch (MMHCC) Peyers Patch (MMHCC)[accessedResource: NCIt:C22562][accessDate: 05-04-2011] Use: http://purl.obolibrary.org/obo/UBERON_0001211 label : Peyer's patch true 2.38 puberty Helen Parkinson true The process of sexual maturation mediated by the neuroendocrine system in mammals. obsolete_postcentral gyrus FMA:61896 James Malone NCIt:C33346 Postcentral convolution Postcentral convolution[accessedResource: FMA:61896][accessDate: 05-04-2011] Posterior central gyrus Posterior central gyrus[accessedResource: FMA:61896][accessDate: 05-04-2011] Postrolandic gyrus Postrolandic gyrus[accessedResource: FMA:61896][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002581 label: postcentral gyrus true obsolete_prefrontal cortex BTO:0002807 FMAID:224850 James Malone Prefrontal association cortex Prefrontal association cortex[accessedResource: FMAID:224850][accessDate: 05-04-2011] The prefrontal cortex is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas. The prefrontal cortex is the anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.[accessedResource: BTO:0002807][accessDate: 05-04-2011] Tomasz Adamusiak prefrontal association complex 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000451 label: prefrontal cortex obsolete_tibialis anterior muscle FMA:22532 James Malone Tibialis anterior Tibialis anterior[accessedResource: FMA:22532][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001385 label: tibialis anterior true obsolete_uvula FMA:55022 James Malone NCIt:C12232 Palatine Uvula Palatine Uvula[accessedResource: NCIt:C12232][accessDate: 05-04-2011] The fleshy lobe that hangs at the back of the soft palate. The fleshy lobe that hangs at the back of the soft palate.[accessedResource: NCIt:C12232][accessDate: 05-04-2011] Uvula of palate Uvula of palate[accessedResource: FMA:55022][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001734 label: uvula 2.38 obsolete_submandibular gland BTO:0001316 James Malone NCIt:C12233 One of the three chief, paired salivary glands, predominantly serous, lying partly above and partly below the posterior half of the base of the mandible. One of the three chief, paired salivary glands, predominantly serous, lying partly above and partly below the posterior half of the base of the mandible.[accessedResource: BTO:0001316][accessDate: 05-04-2011] One of two salivary glands in the neck, located in the space bound by the two bellies of the digastric muscle and the angle of the mandible. It discharges through the submandibular duct. (MeSH) One of two salivary glands in the neck, located in the space bound by the two bellies of the digastric muscle and the angle of the mandible. It discharges through the submandibular duct. (MeSH)[accessedResource: NCIt:C12233][accessDate: 05-04-2011] Submaxillary Gland[accessedResource: NCIt:C12233][accessDate: 05-04-2011] submandibular salivary gland submaxillary gland Use http://purl.obolibrary.org/obo/UBERON_0001736 label: submandibular gland 2.38 true obsolete_laryngopharynx BTO:0001740 James Malone NCIt:C12246 The lower part of the pharynx that connects to the esophagus. The lower part of the pharynx that connects to the esophagus.[accessedResource: NCIt:C12246][accessDate: 05-04-2011] The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus. The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus.[accessedResource: BTO:0001740][accessDate: 05-04-2011] hypopharynx hypopharynx[accessedResource: BTO:0001740][accessDate: 05-04-2011] pars laryngea pharyngis Use http://purl.obolibrary.org/obo/UBERON_0001051 label: hypopharynx 2.38 true obsolete_lacrimal gland An acinous gland that is about the size and shape of an almond, secretes tears, and is situated laterally and superiorly to the bulb of the eye in a shallow depression on the inner surface of the frontal bone. An acinous gland that is about the size and shape of an almond, secretes tears, and is situated laterally and superiorly to the bulb of the eye in a shallow depression on the inner surface of the frontal bone.[accessedResource: BTO:0000044][accessDate: 05-04-2011] BTO:0000044 James Malone NCIt:C12346 Paired, almond-shaped exocrine glands situated superior and posterior to each orbit of the eye that produce and secrete the watery serous component of tears. Paired, almond-shaped exocrine glands situated superior and posterior to each orbit of the eye that produce and secrete the watery serous component of tears.[accessedResource: NCIt:C12346][accessDate: 05-04-2011] tear gland tear gland[accessedResource: BTO:0000044][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001817 label: lacrimal gland obsolete_corpus callosum A white matter structure within the cleft that separates the left and right cerebral hemispheres in the mammalian brain. It is composed of a wide, flat bundle of 200-250 million axonal projections. A white matter structure within the cleft that separates the left and right cerebral hemispheres in the mammalian brain. It is composed of a wide, flat bundle of 200-250 million axonal projections.[accessedResource: NCIt:C12446][accessDate: 05-04-2011] BTO:0000615 James Malone NCIt:C12446 The great band of commissural fibers uniting the cerebral hemispheres of higher mammals including humans. The great band of commissural fibers uniting the cerebral hemispheres of higher mammals including humans.[accessedResource: BTO:0000615][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002336 label: corpus callosum 2.38 true obsolete_somatosensory cortex James Malone NCI Metathesaurus: C0037658 2.38 Use http://purl.obolibrary.org/obo/UBERON_0008930 label: somatosensory cortex true obsolete_subthalamic nucleus A biconvex mass of gray matter on the medial side of the junction of the internal capsule and the crus cerebri; its chief connections are with the globus pallidus. A biconvex mass of gray matter on the medial side of the junction of the internal capsule and the crus cerebri; its chief connections are with the globus pallidus.[accessedResource: BTO:0002252][accessDate: 05-04-2011] BTO:0002252 James Malone Lens-shaped structure on the inner aspect of the internal capsule. The subthalamic nucleus and pathways traversing this region are concerned with the integration of somatic motor function. (MeSH) Lens-shaped structure on the inner aspect of the internal capsule. The subthalamic nucleus and pathways traversing this region are concerned with the integration of somatic motor function. (MeSH)[accessedResource: NCIt:C12454][accessDate: 05-04-2011] Luys' body NCIt:C12454 nucleus of Luys nucleus subthalamicus Use http://purl.obolibrary.org/obo/UBERON_0001906 label: subthalamic nucleus true 2.38 synovial membrane James Malone NCIt:C12473 Synovium Synovium[accessedResource: NCIt:C12473][accessDate: 05-04-2011] The inner layer of the connective tissue that seals the joint. The inner layer of the connective tissue that seals the joint.[accessedResource: NCIt:C12473][accessDate: 05-04-2011] The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH) obsolete_pons A broad mass of chiefly transverse nerve fibers conspicuous on the ventral surface of the brain of man and lower mammals at the anterior end of the medulla oblongata. A broad mass of chiefly transverse nerve fibers conspicuous on the ventral surface of the brain of man and lower mammals at the anterior end of the medulla oblongata.[accessedResource: BTO:0001101][accessDate: 05-04-2011] BTO:0001101 James Malone NCIt: C12511 NIFSTD:birnlex_733 Pons Cerebelli Pons Cerebelli[accessedResource: NCIt: C12511][accessDate: 05-04-2011] Pons Varolii Pons Varolii[accessedResource: NCIt: C12511][accessDate: 05-04-2011] The middle portion of the brainstem located between the midbrain and the medulla oblongata. The fourth ventricle lies dorsal to the pons which also contains the motor trigeminal nuclei and the abducens nuclei. The cerebellum contributes a large number of afferent fibers to the pons. The middle portion of the brainstem located between the midbrain and the medulla oblongata. The fourth ventricle lies dorsal to the pons which also contains the motor trigeminal nuclei and the abducens nuclei. The cerebellum contributes a large number of afferent fibers to the pons.[accessedResource: NCIt: C12511][accessDate: 05-04-2011] Tomasz Adamusiak true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000988 label: pons obsolete_axilla Armpit Armpit[accessedResource: NCIt:C12674][accessDate: 05-04-2011] James Malone NCIt:C12674 The underside concavity where the arm and the shoulder are joined. The underside concavity where the arm and the shoulder are joined.[accessedResource: NCIt:C12674][accessDate: 05-04-2011] Underarm Underarm[accessedResource: NCIt:C12674][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0009472 label: axilla obsolete_femur BTO:0001284 Femoral Femoral[accessedResource: NCIt:C12717][accessDate: 05-04-2011] James Malone NCIt:C12717 The bone that extends from the pelvis to the knee, being the longest and largest bone in the body; its head articulates with the acetabulum of the hip bone, and distally, the femur, along with the patella and tibia, forms the knee joint. The bone that extends from the pelvis to the knee, being the longest and largest bone in the body; its head articulates with the acetabulum of the hip bone, and distally, the femur, along with the patella and tibia, forms the knee joint.[accessedResource: BTO:0001284][accessDate: 05-04-2011] The upper leg bone positioned between the pelvis and the knee. The upper leg bone positioned between the pelvis and the knee.[accessedResource: NCIt:C12717][accessDate: 05-04-2011] femoral bone os femorale os femoris thigh bone true Use http://purl.obolibrary.org/obo/UBERON_0000981 label: femur 2.38 inguinal region Groin Groin[accessedResource: NCIt:C12726][accessDate: 05-04-2011] Inguinal Inguinal[accessedResource: NCIt:C12726][accessDate: 05-04-2011] James Malone NCIt:C12726 The lower region of the anterior abdominal wall located laterally to the pubic region. The lower region of the anterior abdominal wall located laterally to the pubic region.[accessedResource: NCIt:C12726][accessDate: 05-04-2011] iliac region obsolete_humerus James Malone NCIt:C12731 The upper arm bone between the shoulder and elbow. The upper arm bone between the shoulder and elbow.[accessedResource: NCIt:C12731][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000976 label: humerus obsolete_pulmonary artery An artery arising from the right ventricle of the heart that carries deoxygenated blood to the lungs. An artery arising from the right ventricle of the heart that carries deoxygenated blood to the lungs.[accessedResource: NCIt:C12774][accessDate: 05-04-2011] An artery that conveys venous blood from the heart to the lungs. An artery that conveys venous blood from the heart to the lungs.[accessedResource: BTO:0000778][accessDate: 05-04-2011] BTO:0000778 James Malone NCIt:C12774 Pulmonary Trunk Pulmonary Trunk[accessedResource: NCIt:C12774][accessDate: 05-04-2011] Use: http://purl.obolibrary.org/obo/UBERON_0002012 label: pulmonary artery 2.38 true obsolete_scapula BTO:0001218 Either of a pair of large triangular bones lying one in each dorsal lateral scapula: part of the thorax, being the principal bone of the corresponding half of the shoulder girdle, and articulating with the corresponding clavicle or coracoid. Either of a pair of large triangular bones lying one in each dorsal lateral scapula: part of the thorax, being the principal bone of the corresponding half of the shoulder girdle, and articulating with the corresponding clavicle or coracoid.[accessedResource: BTO:0001218][accessDate: 05-04-2011] James Malone NCIt:C12783 Shoulder Blade Shoulder Blade[accessedResource: NCIt:C12783][accessDate: 05-04-2011] The flat triangle-shaped bone that connects the humerus with the clavicle in the back of the shoulder. The flat triangle-shaped bone that connects the humerus with the clavicle in the back of the shoulder.[accessedResource: NCIt:C12783][accessDate: 05-04-2011] scapula bone 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001124 label: pectoral limb scapula obsolete_tonsil Adenoids BTO:0001387 Either of a pair of prominent masses of lymphoid tissue that lie one on each side of the throat between the anterior and posterior pillars of the fauces. James Malone Mandel NCIt:C12802 The human palatine tonsils and the nasopharyngeal tonsil are lymphoepithelial tissues located in strategic areas of the oropharynx and nasopharynx, although most commonly, the term tonsils refers to the palatine tonsils that can be seen in the back of the throat. The human palatine tonsils and the nasopharyngeal tonsil are lymphoepithelial tissues located in strategic areas of the oropharynx and nasopharynx, although most commonly, the term tonsils refers to the palatine tonsils that can be seen in the back of the throat.[accessedResource: BTO:0001387][accessDate: 05-04-2011] The two organs situated in the throat on either side of the narrow passage from the mouth to the pharynx. They are composed of lymphoid tissues. The two organs situated in the throat on either side of the narrow passage from the mouth to the pharynx. They are composed of lymphoid tissues.[accessedResource: NCIt:C12802][accessDate: 05-04-2011] Tonsils Tonsils[accessedResource: NCIt:C12802][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002372 label: tonsil 2.38 true obsolete_trigeminal nerve BTO:0001072 Cranial Nerve V Cranial Nerve V[accessedResource: NCIt:C12806][accessDate: 05-04-2011] Either of the fifth pair of cranial nerves, having sensory and motor functions in the face, teeth, mouth, and nasal cavity. Either of the fifth pair of cranial nerves, having sensory and motor functions in the face, teeth, mouth, and nasal cavity.[accessedResource: BTO:0001072][accessDate: 05-04-2011] Fifth Cranial Nerve Fifth Cranial Nerve[accessedResource: NCIt:C12806][accessDate: 05-04-2011] James Malone NCIt:C12806 Nervus Trigeminus Nervus Trigeminus[accessedResource: NCIt:C12806][accessDate: 05-04-2011] The fifth set of paired nerves of the face that emerge from the brain steam. These nerves have sensory and motor functions in the face, oral cavity, and nasal cavity. The fifth set of paired nerves of the face that emerge from the brain steam. These nerves have sensory and motor functions in the face, oral cavity, and nasal cavity.[accessedResource: NCIt:C12806][accessDate: 05-04-2011] trigeminus true Use http://purl.obolibrary.org/obo/UBERON_0001645 label: trigeminal nerve 2.38 corneal limbus Corneoscleral Limbus Corneoscleral Limbus[accessedResource: NCIt:C12823][accessDate: 05-04-2011] Corneoscleral junction Corneoscleral junction[accessedResource: FMA:58342][accessDate: 05-04-2011] FMA:58342 James Malone Limbus of cornea Limbus of cornea[accessedResource: FMA:58342][accessDate: 05-04-2011] NCIt:C12823 Sclerocorneal junction Sclerocorneal junction[accessedResource: FMA:58342][accessDate: 05-04-2011] seminiferous tubules BTO:0001235 James Malone NCIt:C13047 One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop. One of two or three twisted, curved tubules in each lobule of the testis in which spermatozoa develop.[accessedResource: BTO:0001235][accessDate: 05-04-2011] Seminiferous Tubule seminiferous tubule[accessedResource: BTO:0001235][accessDate: 05-04-2011] obsolete_back BTO:0001713 Back of body proper Back of body proper[accessedResource: FMAID:14181][accessDate: 05-04-2011] FMAID:14181 James Malone NCIt:C13062 The back; especially : the entire dorsal surface of an animal. The back; especially : the entire dorsal surface of an animal.[accessedResource: BTO:0001713][accessDate: 05-04-2011] The dorsal area between the base of the neck and the sacrum. The dorsal area between the base of the neck and the sacrum.[accessedResource: NCIt:C13062][accessDate: 05-04-2011] dorsum dorsum[accessedResource: BTO:0001713][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001137 label: dorsum true obsolete_extraembryonic tissue Anatomical structure that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo. Anatomical structure that is contiguous with the embryo and is comprised of portions of tissue or cells that will not contribute to the embryo.[accessedResource: ZFA:0000020][accessDate: 05-04-2011] EMAPA:16042 FBbt:00005835 James Malone MAT:0000061 SAEL:39 ZFA:0000020 extraembryonic component extraembryonic structure extraembryonic structure[accessedResource: ZFA:0000020][accessDate: 05-04-2011] extraembryonic structures extraembryonic structures[accessedResource: ZFA:0000020][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0005292 label: extraembryonic tissue obsolete_placenta BTO:0001078 EV:0100119 EV:3000466 EVM:2000256 FMAID:63934 James Malone MA:0000386 MAT:0000279 SAEL:84 The vascular organ in mammals except monotremes and marsupials that unites the fetus to the maternal uterus and mediates its metabolic exchanges through a more or less intimate association of uterine mucosal with chorionic and usually allantoic tissues; also: an analogous organ in another animal. The vascular organ in mammals except monotremes and marsupials that unites the fetus to the maternal uterus and mediates its metabolic exchanges through a more or less intimate association of uterine mucosal with chorionic and usually allantoic tissues; also: an analogous organ in another animal.[accessedResource: BTO:0001078][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001987 label: placenta cervical neck region James Malone obsolete_ankle A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus. A gliding joint between the distal ends of the tibia and fibula and the proximal end of the talus.[accessedResource: NCIt:C32078][accessDate: 05-04-2011] Ankle Joint Ankle Joint[accessedResource: NCIt:C32078][accessDate: 05-04-2011] BTO:0002354 James Malone NCIt:C32078 The highest of the tarsal bones and the one that articulates with the tibia and fibula to form the ankle joint. The highest of the tarsal bones and the one that articulates with the tibia and fibula to form the ankle joint.[accessedResource: BTO:0002354][accessDate: 05-04-2011] ankle bone astragaloid bone astragalus os tarsi tibiale talus talus[accessedResource: BTO:0002354][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001488 label: ankle joint arm A human upper limb; especially: the part between the shoulder and the wrist. A human upper limb; especially: the part between the shoulder and the wrist.[accessedResource: BTO:0001435][accessDate: 05-04-2011] BTO:0001435 James Malone NCIt:C32141 The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb. The portion of the upper extremity between the shoulder and the elbow. For clinical purposes this term is also used to refer to the whole superior limb.[accessedResource: NCIt:C32141][accessDate: 05-04-2011] leg A limb of an animal used especially for supporting the body and for walking. A limb of an animal used especially for supporting the body and for walking.[accessedResource: BTO:0000721][accessDate: 05-04-2011] BTO:0000721 James Malone NCIt:C32974 One of the two lower extremities in humans used for locomotion and support. One of the two lower extremities in humans used for locomotion and support.[accessedResource: NCIt:C32974][accessDate: 05-04-2011] obsolete_deltoid James Malone NCIt:C32446 true Use http://purl.obolibrary.org/obo/UBERON_0001476 label: deltoid 2.38 obsolete_gastrocnemius A large muscle in the back of the lower leg. Its action involves the plantar flexion of the foot. A large muscle in the back of the lower leg. Its action involves the plantar flexion of the foot.[accessedResource: NCIt:C32666][accessDate: 05-04-2011] BTO:0000506 Gastrocnemius Muscle[accessedResource: NCIt:C32666][accessDate: 05-04-2011] James Malone NCIt:C32666 The largest and most superficial muscle of the calf of the leg arising by two heads from the condyles of the femur and attaching to a tendon that becomes part of the Achilles tendon. The largest and most superficial muscle of the calf of the leg arising by two heads from the condyles of the femur and attaching to a tendon that becomes part of the Achilles tendon.[accessedResource: BTO:0000506][accessDate: 05-04-2011] gastrocnemius muscle 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001388 label: gastrocnemius embryonic gonadal ridge Gonadal Ridge Gonadal Ridge[accessedResource: NCIt:C34184][accessDate: 05-04-2011] James Malone NCIt:C34184 obsolete_umbilical cord A cord arising from the navel that connects the fetus with the placenta. A cord arising from the navel that connects the fetus with the placenta.[accessedResource: BTO:0001415][accessDate: 05-04-2011] A cord arising from the navel that connects the fetus with the placenta; also: yolk stalk BTO:0001415 EHDAA:158 EV:0100127 EV:3000467 EVM:2000364 FMAID:85541 James Malone MAT:0000280 SAEL:113 connecting stalk yolk stalk true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002331 label: umbilical cord cervical adenocarcinoma Adenocarcinoma of Cervix Adenocarcinoma of Cervix Uteri Adenocarcinoma of Cervix Uteri[accessedResource: NCIt:C4029][accessDate: 05-04-2011] Adenocarcinoma of Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011] Adenocarcinoma of Uterine Cervix Adenocarcinoma of Uterine Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011] Adenocarcinoma of the Cervix Adenocarcinoma of the Cervix Uteri Adenocarcinoma of the Cervix Uteri[accessedResource: NCIt:C4029][accessDate: 05-04-2011] Adenocarcinoma of the Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011] Adenocarcinoma of the Uterine Cervix Adenocarcinoma of the Uterine Cervix[accessedResource: NCIt:C4029][accessDate: 05-04-2011] An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papilloma virus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type. An adenocarcinoma arising from the cervical epithelium. It accounts for approximately 15% of invasive cervical carcinomas. Increased numbers of sexual partners and human papilloma virus (HPV) infection are risk factors. Grossly, advanced cervical adenocarcinoma may present as an exophytic mass, an ulcerated lesion, or diffuse cervical enlargement. Microscopically, the majority of cervical adenocarcinomas are of the endocervical (mucinous) type.[accessedResource: NCIt:C4029][accessDate: 05-04-2011] CERVICAL NEOPL CERVICAL NEOPL[accessedResource: MSH:D002583][accessDate: 05-04-2011] CERVIX NEOPL CERVIX NEOPL[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cancer of Cervix Cancer of Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cancer of the Cervix Cancer of the Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cancer of the Uterine Cervix Cancer of the Uterine Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cancer, Cervix Cancer, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cancer, Uterine Cervical Cancer, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cancers, Cervix Cancers, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cancers, Uterine Cervical Cancers, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervical Cancer, Uterine Cervical Cancer, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervical Cancers, Uterine Cervical Cancers, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervical Neoplasm Cervical Neoplasm, Uterine Cervical Neoplasm, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervical Neoplasm[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervical Neoplasms Cervical Neoplasms, Uterine Cervical Neoplasms, Uterine[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervical Neoplasms[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervix Adenocarcinoma Cervix Adenocarcinoma[accessedResource: NCIt:C4029][accessDate: 05-04-2011] Cervix Cancer Cervix Cancer[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervix Neoplasm Cervix Neoplasm[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervix Neoplasms Cervix Neoplasms[accessedResource: MSH:D002583][accessDate: 05-04-2011] Cervix Uteri Adenocarcinoma Cervix Uteri Adenocarcinoma[accessedResource: NCIt:C4029][accessDate: 05-04-2011] DOID:3702 James Malone MSH:D002583 NCIt:C4029 NEOPL CERVICAL NEOPL CERVICAL[accessedResource: MSH:D002583][accessDate: 05-04-2011] NEOPL CERVIX NEOPL CERVIX[accessedResource: MSH:D002583][accessDate: 05-04-2011] Neoplasm, Cervical Neoplasm, Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011] Neoplasm, Cervix Neoplasm, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011] Neoplasm, Uterine Cervical Neoplasm, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011] Neoplasms, Cervical Neoplasms, Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011] Neoplasms, Cervix Neoplasms, Cervix[accessedResource: MSH:D002583][accessDate: 05-04-2011] Neoplasms, Uterine Cervical Neoplasms, Uterine Cervical[accessedResource: MSH:D002583][accessDate: 05-04-2011] OMIM:603956 Tomasz Adamusiak Tumors or cancer of the UTERINE CERVIX. Tumors or cancer of the UTERINE CERVIX.[accessedResource: MSH:D002583][accessDate: 05-04-2011] UTERINE CERVICAL NEOPL UTERINE CERVICAL NEOPL[accessedResource: MSH:D002583][accessDate: 05-04-2011] Uterine Cervical Cancer Uterine Cervical Cancer[accessedResource: MSH:D002583][accessDate: 05-04-2011] Uterine Cervical Cancers Uterine Cervical Cancers[accessedResource: MSH:D002583][accessDate: 05-04-2011] Uterine Cervical Neoplasm Uterine Cervical Neoplasm[accessedResource: MSH:D002583][accessDate: 05-04-2011] Uterine Cervical Neoplasms Uterine Cervical Neoplasms[accessedResource: MSH:D002583][accessDate: 05-04-2011] Uterine Cervix Adenocarcinoma Uterine Cervix Adenocarcinoma[accessedResource: NCIt:C4029][accessDate: 05-04-2011] obsolete_sciatic nerve BTO:0001221 FMA:19034 James Malone NCIt:C52810 The largest nerve of the body: origin, sacral plexus-L4-S3; it leaves the pelvis through the greater sciatic foramen; branches, divides into the tibial and common peroneal nerves, usually in lower third of thigh; distribution-see individual branches, in this table; modality, general sensory and motor. The largest nerve of the body: origin, sacral plexus-L4-S3; it leaves the pelvis through the greater sciatic foramen; branches, divides into the tibial and common peroneal nerves, usually in lower third of thigh; distribution-see individual branches, in this table; modality, general sensory and motor.[accessedResource: BTO:0001221][accessDate: 05-04-2011] The longest single nerve that is formed by the merging of the ventral rami of the L4, L5, and S1 in the pelvis and passes down the lower limb where it divides into the common peroneal and tibial nerves. The longest single nerve that is formed by the merging of the ventral rami of the L4, L5, and S1 in the pelvis and passes down the lower limb where it divides into the common peroneal and tibial nerves.[accessedResource: NCIt:C52810][accessDate: 05-04-2011] nervus ischiadicus nervus sciaticus Use http://purl.obolibrary.org/obo/UBERON_0001322 label: sciatic nerve true 2.38 obsolete_biceps femoris A muscle in the back of the thigh. Its action involves the knee flexion and hip extension. A muscle in the back of the thigh. Its action involves the knee flexion and hip extension.[accessedResource: NCIt:C53147][accessDate: 05-04-2011] James Malone NCIt:C53147 Use http://purl.obolibrary.org/obo/UBERON_0001374 label: biceps femoris true 2.38 sepsis A disease of infectious agent resulting from the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. These pathogens are able to cause disease in animals and/or plants. Infectious pathologies are usually qualified as contagious disease (also called communicable disease) due to their potentiality of transmission from one person or species to another. BLOOD POIS BLOOD POIS[accessedResource: MSH:D018805][accessDate: 05-04-2011] Blood Poisoning Blood Poisonings Blood Poisonings[accessedResource: MSH:D018805][accessDate: 05-04-2011] GeneRIF:11770048 GeneRIF:11774822 GeneRIF:11776298 GeneRIF:11876758 GeneRIF:11956648 GeneRIF:12006369 GeneRIF:12022759 GeneRIF:12027409 GeneRIF:12031601 GeneRIF:12032273 GeneRIF:12052963 GeneRIF:12055255 GeneRIF:12093893 GeneRIF:12117955 GeneRIF:12117983 GeneRIF:12147224 GeneRIF:12198614 GeneRIF:12218091 GeneRIF:12218141 GeneRIF:12219025 GeneRIF:12219031 GeneRIF:12296849 GeneRIF:12472775 GeneRIF:12480554 GeneRIF:12496437 GeneRIF:12517942 GeneRIF:12571074 GeneRIF:12593995 GeneRIF:12604029 GeneRIF:12615620 GeneRIF:12643861 GeneRIF:12721157 GeneRIF:12869495 GeneRIF:12946935 GeneRIF:12946943 GeneRIF:12947340 GeneRIF:12959973 GeneRIF:14517747 GeneRIF:14525968 GeneRIF:14634136 GeneRIF:14659593 GeneRIF:14660484 GeneRIF:14688199 GeneRIF:14966572 GeneRIF:14991091 GeneRIF:14993594 GeneRIF:15030585 GeneRIF:15034057 GeneRIF:15050965 GeneRIF:15124023 GeneRIF:15128822 GeneRIF:15129283 GeneRIF:15131465 GeneRIF:15155262 GeneRIF:15155612 GeneRIF:15187138 GeneRIF:15201701 GeneRIF:15211109 GeneRIF:15240146 GeneRIF:15244040 GeneRIF:15319291 GeneRIF:15328161 GeneRIF:15383576 GeneRIF:15472172 GeneRIF:15489631 GeneRIF:15489642 GeneRIF:15504976 GeneRIF:15545825 GeneRIF:15545827 GeneRIF:15554961 GeneRIF:15557190 GeneRIF:15563579 GeneRIF:15579460 GeneRIF:15585684 GeneRIF:15614130 GeneRIF:15634264 GeneRIF:15634936 GeneRIF:15645239 GeneRIF:15650061 GeneRIF:15717270 GeneRIF:15733912 GeneRIF:15760677 GeneRIF:15803053 GeneRIF:15834309 GeneRIF:15834314 GeneRIF:15845478 GeneRIF:15845485 GeneRIF:15890324 GeneRIF:15947070 GeneRIF:16207247 GeneRIF:16239554 GeneRIF:16260097 James Malone MSH:D018805 NCIt:C3364 POIS BLOOD POIS BLOOD[accessedResource: MSH:D018805][accessDate: 05-04-2011] Poisoning, Blood Poisoning, Blood[accessedResource: MSH:D018805][accessDate: 05-04-2011] Poisonings, Blood Poisonings, Blood[accessedResource: MSH:D018805][accessDate: 05-04-2011] Pyaemia Pyaemia[accessedResource: MSH:D018805][accessDate: 05-04-2011] Pyaemias Pyaemias[accessedResource: MSH:D018805][accessDate: 05-04-2011] Pyemia Pyemia[accessedResource: MSH:D018805][accessDate: 05-04-2011] Pyemias Pyemias[accessedResource: MSH:D018805][accessDate: 05-04-2011] Pyohemia Pyohemia[accessedResource: MSH:D018805][accessDate: 05-04-2011] Pyohemias Pyohemias[accessedResource: MSH:D018805][accessDate: 05-04-2011] SNOMEDCT:91302008 Sepsis associated with organ dysfunction distant from the site of infection. Sepsis associated with organ dysfunction distant from the site of infection.[accessedResource: MSH:D018805][accessDate: 05-04-2011] Sepsis, NOS Sepsis, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011] Sepsis, Severe Sepsis, Severe[accessedResource: MSH:D018805][accessDate: 05-04-2011] Septicaemia, NOS Septicaemia, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011] Septicemia Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES. Septicemia caused by pyogenic microorganisms (e.g., STAPHYLOCOCCUS; BACILLUS), resulting in the formation of secondary foci of SUPPURATION and multiple ABSCESSES.[accessedResource: MSH:D018805][accessDate: 05-04-2011] Septicemia, NOS Septicemia, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011] Septicemia[accessedResource: NCIt:C3364][accessDate: 05-04-2011] Septicemias Septicemias[accessedResource: MSH:D018805][accessDate: 05-04-2011] Severe Sepsis Severe Sepsis[accessedResource: MSH:D018805][accessDate: 05-04-2011] Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood. Systemic disease associated with the presence of pathogenic microorganisms or their toxins in the blood.[accessedResource: MSH:D018805][accessDate: 05-04-2011] Systemic infection Systemic infection (disorder) Systemic infection (disorder)[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011] Systemic infection, NOS Systemic infection, NOS[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011] Systemic infection[accessedResource: SNOMEDCT:91302008][accessDate: 05-04-2011] Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK. Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK.[accessedResource: MSH:D018805][accessDate: 05-04-2011] The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention. The presence of pathogenic microorganisms in the blood stream causing a rapidly progressing systemic reaction that may lead to shock. Symptoms include fever, chills, tachycardia, and increased respiratory rate. It is a medical emergency that requires urgent medical attention.[accessedResource: NCIt:C3364][accessDate: 05-04-2011] blood poisoning[accessedResource: NCIt:C3364][accessDate: 05-04-2011] toxemia toxemia[accessedResource: NCIt:C3364][accessDate: 05-04-2011] liver disease Any disease or dysfunction of the liver and the intrahepatic bile ducts. Any disease or dysfunction of the liver and the intrahepatic bile ducts.[accessedResource: NCIt:C3196][accessDate: 05-04-2011] DOID:409 Disease of liver Disease of liver[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011] Disease, Liver Disease, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011] Diseases, Liver Diseases, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011] Disorder of liver Disorder of liver[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011] Dysfunction, Liver Dysfunction, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011] Dysfunctions, Liver Dysfunctions, Liver[accessedResource: MSH:D008107][accessDate: 05-04-2011] GeneRIF:11810299 GeneRIF:11898128 GeneRIF:11929052 GeneRIF:11929053 GeneRIF:12000722 GeneRIF:12006706 GeneRIF:12029628 GeneRIF:12085365 GeneRIF:12143056 GeneRIF:12148114 GeneRIF:12149233 GeneRIF:12297838 GeneRIF:12445411 GeneRIF:12532447 GeneRIF:12557137 GeneRIF:12705907 GeneRIF:12724528 GeneRIF:12794718 GeneRIF:12823590 GeneRIF:12823592 GeneRIF:12830005 GeneRIF:14624764 GeneRIF:15112358 GeneRIF:15235035 GeneRIF:15246202 GeneRIF:15286165 GeneRIF:15377291 GeneRIF:15653097 GeneRIF:15661915 GeneRIF:15719405 GeneRIF:15774823 GeneRIF:15842357 GeneRIF:15944310 GeneRIF:15969449 GeneRIF:16339124 Hepatopathy Hepatopathy[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011] ICD9:573.9 James Malone LD - Liver disease LD - Liver disease[accessedResource: SNOMEDCT:235856003][accessDate: 05-04-2011] LIVER DIS LIVER DIS[accessedResource: MSH:D008107][accessDate: 05-04-2011] Liver Diseases Liver Diseases[accessedResource: MSH:D008107][accessDate: 05-04-2011] Liver Disorder Liver Disorder[accessedResource: NCIt:C3196][accessDate: 05-04-2011] Liver Dysfunction Liver Dysfunction[accessedResource: MSH:D008107][accessDate: 05-04-2011] Liver Dysfunctions Liver Dysfunctions[accessedResource: MSH:D008107][accessDate: 05-04-2011] Liver disorder NOS Liver disorder NOS (disorder) Liver disorder NOS (disorder)[accessedResource: SNOMEDCT:197375001][accessDate: 05-04-2011] Liver disorder NOS[accessedResource: SNOMEDCT:197375001][accessDate: 05-04-2011] Liver disorder in pregnancy Liver disorder in pregnancy (disorder) Liver disorder in pregnancy (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011] Liver disorder in pregnancy - delivered (disorder) Liver disorder in pregnancy - delivered (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011] Liver disorder in pregnancy NOS (disorder) Liver disorder in pregnancy NOS (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011] Liver disorder in pregnancy unspecified (disorder) Liver disorder in pregnancy unspecified (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011] Liver disorder in pregnancy, unspecified as to episode of care Liver disorder in pregnancy, unspecified as to episode of care[accessedResource: DOID:409][accessDate: 05-04-2011] Liver disorder in pregnancy, with delivery Liver disorder in pregnancy, with delivery[accessedResource: DOID:409][accessDate: 05-04-2011] Liver disorder in pregnancy[accessedResource: DOID:409][accessDate: 05-04-2011] MSH:D008107 NCIt:C3196 Pathological processes of the LIVER. Pathological processes of the LIVER.[accessedResource: MSH:D008107][accessDate: 05-04-2011] SNOMEDCT:197375001 SNOMEDCT:197551000 SNOMEDCT:235856003 Unspecified disorder of liver Unspecified disorder of liver[accessedResource: DOID:409][accessDate: 05-04-2011] [X]Diseases of the liver [X]Diseases of the liver (disorder) [X]Diseases of the liver (disorder)[accessedResource: SNOMEDCT:197551000][accessDate: 05-04-2011] [X]Diseases of the liver[accessedResource: SNOMEDCT:197551000][accessDate: 05-04-2011] disease of liver [Ambiguous] disease of liver [Ambiguous][accessedResource: DOID:409][accessDate: 05-04-2011] disease of the liver (disorder) disease of the liver (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011] disorder of liver (disorder) disorder of liver (disorder)[accessedResource: DOID:409][accessDate: 05-04-2011] hepatic disorder hepatic disorder[accessedResource: DOID:409][accessDate: 05-04-2011] liver disorder antepartum liver disorder antepartum[accessedResource: DOID:409][accessDate: 05-04-2011] liver disorder in pregnancy - delivered liver disorder in pregnancy - delivered[accessedResource: DOID:409][accessDate: 05-04-2011] cirrhosis of liver A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholisms, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy. A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholisms, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.[accessedResource: NCIt:C2951][accessDate: 05-04-2011] CL - Cirrhosis of liver CL - Cirrhosis of liver[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011] Cirrhoses, Hepatic Cirrhoses, Hepatic[accessedResource: MSH:D008103][accessDate: 05-04-2011] Cirrhoses, Liver Cirrhoses, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011] Cirrhosis of liver (disorder) Cirrhosis of liver (disorder)[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011] Cirrhosis of liver NOS Cirrhosis of liver NOS (disorder) Cirrhosis of liver NOS (disorder)[accessedResource: DOID:5082][accessDate: 05-04-2011] Cirrhosis of liver NOS[accessedResource: DOID:5082][accessDate: 05-04-2011] Cirrhosis of liver without mention of alcohol Cirrhosis of liver without mention of alcohol[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011] Cirrhosis of liver, NOS Cirrhosis of liver, NOS[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011] Cirrhosis, Hepatic Cirrhosis, Hepatic[accessedResource: MSH:D008103][accessDate: 05-04-2011] Cirrhosis, Liver Cirrhosis, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011] Cirrhosis[accessedResource: DOID:5082][accessDate: 05-04-2011] DOID:5082 Fibroses, Liver Fibroses, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011] Fibrosis, Liver Fibrosis, Liver[accessedResource: MSH:D008103][accessDate: 05-04-2011] GeneRIF:11953887 GeneRIF:12127815 GeneRIF:12532467 GeneRIF:12631357 GeneRIF:12757931 GeneRIF:12829439 GeneRIF:12829997 GeneRIF:12842454 GeneRIF:12945872 GeneRIF:12971960 GeneRIF:14669345 GeneRIF:14768003 GeneRIF:14961153 GeneRIF:15094224 GeneRIF:15094940 GeneRIF:15104370 GeneRIF:15172884 GeneRIF:15222038 GeneRIF:15239259 GeneRIF:15368451 GeneRIF:15550559 GeneRIF:15710227 GeneRIF:15737463 GeneRIF:15742396 GeneRIF:15765409 GeneRIF:15808312 GeneRIF:15956070 GeneRIF:15956705 GeneRIF:15982324 GeneRIF:16015705 GeneRIF:16098781 GeneRIF:16255765 Hepatic Cirrhoses Hepatic Cirrhoses[accessedResource: MSH:D008103][accessDate: 05-04-2011] Hepatic cirrhosis Hepatic cirrhosis, NOS Hepatic cirrhosis, NOS[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011] Hepatic cirrhosis[accessedResource: SNOMEDCT:19943007][accessDate: 05-04-2011] James Malone Liver Cirrhoses Liver Cirrhoses[accessedResource: MSH:D008103][accessDate: 05-04-2011] Liver Fibroses Liver Fibroses[accessedResource: MSH:D008103][accessDate: 05-04-2011] Liver Fibrosis Liver Fibrosis[accessedResource: MSH:D008103][accessDate: 05-04-2011] Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules.[accessedResource: MSH:D008103][accessDate: 05-04-2011] MSH:D008103 NCIt:C2951 SNOMEDCT:19943007 SNOMEDCT:235891006 cirrhosis liver cirrhosis liver cirrhosis[accessedResource: DOID:5082][accessDate: 05-04-2011] true encephalomyelitis A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature. A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature.[accessedResource: MSH:D004679][accessDate: 05-04-2011] DOID:640 ENCEPH INFLAMM ENCEPH INFLAMM[accessedResource: MSH:D004679][accessDate: 05-04-2011] Encephalitis &/or myelitis Encephalitis &/or myelitis[accessedResource: DOID:640][accessDate: 05-04-2011] Encephalitis/myelitis NOS Encephalitis/myelitis NOS (disorder) Encephalitis/myelitis NOS (disorder)[accessedResource: DOID:640][accessDate: 05-04-2011] Encephalitis/myelitis NOS[accessedResource: DOID:640][accessDate: 05-04-2011] Encephalomyelitis (disorder) Encephalomyelitis (disorder)[accessedResource: SNOMEDCT:62950007][accessDate: 05-04-2011] Encephalomyelitis NOS Encephalomyelitis NOS (disorder) Encephalomyelitis NOS (disorder)[accessedResource: DOID:640][accessDate: 05-04-2011] Encephalomyelitis NOS[accessedResource: SNOMEDCT:230196000][accessDate: 05-04-2011] Encephalomyelitis, Inflammatory Encephalomyelitis, Inflammatory[accessedResource: MSH:D004679][accessDate: 05-04-2011] Encephalomyelitis, NOS Encephalomyelitis, NOS[accessedResource: SNOMEDCT:62950007][accessDate: 05-04-2011] GeneRIF:12496452 GeneRIF:15310853 INFLAMM ENCEPH INFLAMM ENCEPH[accessedResource: MSH:D004679][accessDate: 05-04-2011] Inflammatory Encephalomyelitis Inflammatory Encephalomyelitis[accessedResource: MSH:D004679][accessDate: 05-04-2011] James Malone MSH:D004679 MYELOENCEPH MYELOENCEPH[accessedResource: MSH:D004679][accessDate: 05-04-2011] Myeloencephalitides Myeloencephalitides[accessedResource: MSH:D004679][accessDate: 05-04-2011] Myeloencephalitis Myeloencephalitis[accessedResource: MSH:D004679][accessDate: 05-04-2011] NCIt:C34580 SNOMEDCT:230196000 SNOMEDCT:62950007 obsolete_masseter muscle A thick muscle in the cheek that closes the jaws during chewing. A thick muscle in the cheek that closes the jaws during chewing.[accessedResource: BTO:0001755][accessDate: 05-04-2011] BTO:0001755 James Malone Masticatory Muscle[accessedResource: NCIt:C13074][accessDate: 05-04-2011] Masticatory Muscles Masticatory Muscles[accessedResource: NCIt:C13074][accessDate: 05-04-2011] Muscles arising in the zygomatic arch that close the jaw. (MeSH) Muscles arising in the zygomatic arch that close the jaw. (MeSH)[accessedResource: NCIt:C13074][accessDate: 05-04-2011] NCIt:C13074 masseter masseter[accessedResource: BTO:0001755][accessDate: 05-04-2011] masticatory muscle Use http://purl.obolibrary.org/obo/UBERON_0001597 label: masseter muscle true 2.38 ischemic cardiomyopathy Ischemic cardiomyopathy is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause. James Malone WEB:http://en.wikipedia.org/wiki/Cardiomyopathy#Ischemic_cardiomyopathy study design A study type is an experimental factor describing the method of investigating particular types of research questions or solving particular types of problems, for example, a set of protocols (which may specify how and what kinds of data will be gathered). James Malone Jon Ison OBI_0500000 PERSON: James Malone experimental design twin design Natalja Kurbatova case control design Case-Control Study Case-Control Study[accessedResource: NCIt:C15197][accessDate: 05-04-2011] James Malone NCIt:C15197 Tomasz Adamusiak Natalja Kurbatova A case-control study design compares two groups of subjects: those with the disease or condition under study (cases) and a very similar group of subjects who do not have the disease or condition (controls). cross sectional design A study in which participants are examined at only a single time for characteristics of a disease. A study in which participants are examined at only a single time for characteristics of a disease.[accessedResource: NCIt:C53310][accessDate: 05-04-2011] Cross-Sectional Study Cross-Sectional Study[accessedResource: NCIt:C53310][accessDate: 05-04-2011] James Malone NCIt:C53310 Tomasz Adamusiak Natalja Kurbatova family based design Familial Study Familial Study[accessedResource: NCIt:C15407][accessDate: 05-04-2011] Family Study[accessedResource: NCIt:C15407][accessDate: 05-04-2011] James Malone NCIt:C15407 Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring. Research conducted on members of families, examining the affects of genetics, the environment, or twin offspring.[accessedResource: NCIt:C15407][accessDate: 05-04-2011] Tomasz Adamusiak family study Natalja Kurbatova MO_544 family_history_design[accessedResource: MO_544][accessDate: 05-04-2011] population based design James Malone Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment. Multidisciplinary study done at the population level or among the population groups, generally to find the cause, incidence or spread of the disease or to see the response to the treatment, nutrition or environment.[accessedResource: NCIt:C15716][accessDate: 05-04-2011] NCIt:C15716 Population Study Population Study[accessedResource: NCIt:C15716][accessDate: 05-04-2011] Tomasz Adamusiak Natalja Kurbatova twin design A twin study design is a study design in behavior genetics which aid the study of individual differences between genetically identical twins by highlighting the role of environmental and genetic causes on behavior. James Malone Tomasz Adamusiak Wikipedia definition, modified by editor. Natalja Kurbatova obsolete_race 2.6.1 A race is a popluation categorized on the basis of various sets of heritable characteristics. An arbitrary classification of a taxonomic group that is a division of a species. It usually arises as a consequence of geographical isolation within a species and is characterized by shared heredity, physical attributes and behavior, and in the case of humans, by common history, nationality, or geographic distribution. James Malone NCIt:C17049 true use EFO_0001799 instead measurement A measurement is an information entity that is a recording of the output of a measurement such as produced by an instrument. James Malone Jie Zheng MO_144 NIFSTD:sao279801585 Tomasz Adamusiak true instrument design An instrument design is information in the form of a specification that describes the setup and design of an instrument. James Malone DNA assay An assay with input DNA James Malone RNA assay An assay with input RNA James Malone RNA assay protein assay An assay with input protein James Malone Protein assay uninfected James Malone Uninfected class is a disposition in which the bearer is not known to be affected by a disease withtin the context of a study control A control role is borne by a material in a process in which results obtained from an experimental sample and a control sample are compared. Controlled Controlled[accessedResource: NCIt:C61299][accessDate: 05-04-2011] Controlling Controlling[accessedResource: NCIt:C61299][accessDate: 05-04-2011] James Malone NCIt:C61299 The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another. The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another.[accessedResource: NCIt:C61299][accessDate: 05-04-2011] reference sample cancer cell line A cancer cell line is defined as something that is bearer of a cancer. A cancer cell line is a cell line. James Malone Natural Language Generator 8th April 2010 B cell derived cell line epithelial cell derived cell line An epithelial cell derived cell line is defined as something that derives from an epithelial cell. James Malone Natural Language Generator 8th April 2010 lymphoid neoplasm DIFFUSE LARGE LYMPHOMA DIFFUSE LARGE LYMPHOMA[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Histiocytic Lymphoma Diffuse Histiocytic Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Histiocytic Lymphomas Diffuse Histiocytic Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Large Cell Lymphoma Diffuse Large Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Large-Cell Lymphoma Diffuse Large-Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse Large-Cell Lymphomas Diffuse Large-Cell Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] Diffuse, Large B-Cell, Lymphoma Diffuse, Large B-Cell, Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphoma Histiocytic Lymphoma, Diffuse Histiocytic Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphomas Histiocytic Lymphomas, Diffuse Histiocytic Lymphomas, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Histiocytic Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] James Malone LARGE LYMPHOMA LARGE LYMPHOMA DIFFUSE LARGE LYMPHOMA DIFFUSE[accessedResource: MSH:D016403][accessDate: 05-04-2011] LARGE LYMPHOMA[accessedResource: MSH:D016403][accessDate: 05-04-2011] LYMPHOMA DIFFUSE LARGE LYMPHOMA DIFFUSE LARGE[accessedResource: MSH:D016403][accessDate: 05-04-2011] LYMPHOMA LARGE LYMPHOMA LARGE DIFFUSE LYMPHOMA LARGE DIFFUSE[accessedResource: MSH:D016403][accessDate: 05-04-2011] LYMPHOMA LARGE[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large Cell Lymphoma Large Cell Lymphoma, Diffuse Large Cell Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large Lymphoid Lymphoma, Diffuse Large Lymphoid Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphoma Large-Cell Lymphoma, Diffuse Large-Cell Lymphoma, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphoma[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphomas Large-Cell Lymphomas, Diffuse Large-Cell Lymphomas, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Large-Cell Lymphomas[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Diffuse Histiocytic Lymphoma, Diffuse Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Diffuse Large Cell Lymphoma, Diffuse Large Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Diffuse Large-Cell Lymphoma, Diffuse Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Histiocytic Lymphoma, Histiocytic, Diffuse Lymphoma, Histiocytic, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large B-Cell, Diffuse Lymphoma, Large B-Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large Cell Lymphoma, Large Cell, Diffuse Lymphoma, Large Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large Lymphoid, Diffuse Lymphoma, Large Lymphoid, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large-Cell Lymphoma, Large-Cell, Diffuse Lymphoma, Large-Cell, Diffuse[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphoma, Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Diffuse Histiocytic Lymphomas, Diffuse Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Diffuse Large-Cell Lymphomas, Diffuse Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Histiocytic Lymphomas, Histiocytic[accessedResource: MSH:D016403][accessDate: 05-04-2011] Lymphomas, Large-Cell Lymphomas, Large-Cell[accessedResource: MSH:D016403][accessDate: 05-04-2011] MSH:D016403 Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation. Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation.[accessedResource: MSH:D016403][accessDate: 05-04-2011] Tomasz Adamusiak blood cancer hematological cancer hematological neoplasm kidney derived cell line stria vascularis A stria vascularis is part of a cochlea and is the upper part of the spiral ligament of thescala media that contains numerous small blood vessels. BTO:0001819 James Malone NCI Metathesaurus: C0038445 NIFSTD:birnlex_2525 The upper part of the spiral ligament of the scala media that contains numerous small blood vessels;nA layer of vascular tissue consisting of epithelial cells, mesothelial cells, and probably some neuroectoderm; it covers the outer wall of the cochlear duct and is thought to secrete the endolymph. The upper part of the spiral ligament of the scala media that contains numerous small blood vessels;nA layer of vascular tissue consisting of epithelial cells, mesothelial cells, and probably some neuroectoderm; it covers the outer wall of the cochlear duct and is thought to secrete the endolymph.[accessedResource: BTO:0001819][accessDate: 05-04-2011] Tomasz Adamusiak stria vascularis ductus cochlearis vascular stria of cochlear duct coronary heart disease An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels. An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.[accessedResource: MSH:D003327][accessDate: 05-04-2011] CAD[accessedResource: NCIt:C26732][accessDate: 05-04-2011] CHD CHD (coronary heart disease) CHD (coronary heart disease)[accessedResource: DOID:3393][accessDate: 05-04-2011] CHD - Coronary heart disease CHD - Coronary heart disease[accessedResource: DOID:3393][accessDate: 05-04-2011] CORONARY DIS CORONARY DIS[accessedResource: MSH:D003327][accessDate: 05-04-2011] CORONARY HEART DIS CORONARY HEART DIS[accessedResource: MSH:D003327][accessDate: 05-04-2011] Coronary Artery Disease[accessedResource: NCIt:C26732][accessDate: 05-04-2011] Coronary Disease Coronary Disease[accessedResource: NCIt:C26732][accessDate: 05-04-2011] Coronary Diseases Coronary Diseases[accessedResource: MSH:D003327][accessDate: 05-04-2011] Coronary Heart Diseases Coronary Heart Diseases[accessedResource: MSH:D003327][accessDate: 05-04-2011] Coronary heart disease is a cardiovascular disease in which there is a failure of coronary circulation to supply adequate circulation to cardiac muscle and surrounding tissue. DOID:3393 Disease, Coronary Disease, Coronary Heart Disease, Coronary Heart[accessedResource: MSH:D003327][accessDate: 05-04-2011] Disease, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] Diseases, Coronary Diseases, Coronary Heart Diseases, Coronary Heart[accessedResource: MSH:D003327][accessDate: 05-04-2011] Diseases, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] GeneRIF:11859854 GeneRIF:11862316 GeneRIF:11889198 GeneRIF:11916624 GeneRIF:11919305 GeneRIF:11947914 GeneRIF:11972304 GeneRIF:12030385 GeneRIF:12074827 GeneRIF:12104085 GeneRIF:12117730 GeneRIF:12151850 GeneRIF:12151853 GeneRIF:12207101 GeneRIF:12362314 GeneRIF:12408999 GeneRIF:12588754 GeneRIF:12588779 GeneRIF:12594357 GeneRIF:12666851 GeneRIF:12676816 GeneRIF:12801611 GeneRIF:12818402 GeneRIF:12842840 GeneRIF:12879153 GeneRIF:12893022 GeneRIF:12925562 GeneRIF:14576201 GeneRIF:14592833 GeneRIF:14695459 GeneRIF:14747236 GeneRIF:14967821 GeneRIF:15193812 GeneRIF:15199365 GeneRIF:15379752 GeneRIF:15454272 GeneRIF:15585206 GeneRIF:15585208 GeneRIF:15585218 GeneRIF:15598085 GeneRIF:15607533 GeneRIF:15653107 GeneRIF:15692099 GeneRIF:15784171 GeneRIF:15825968 GeneRIF:15837082 GeneRIF:15877284 GeneRIF:15879687 GeneRIF:15887860 GeneRIF:15920035 GeneRIF:15920055 GeneRIF:16088850 GeneRIF:16113535 GeneRIF:16159602 Heart Disease, Coronary Heart Disease, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] Heart Diseases, Coronary Heart Diseases, Coronary[accessedResource: MSH:D003327][accessDate: 05-04-2011] James Malone MSH:D003327 NCIt:C26732 Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.[accessedResource: NCIt:C26732][accessDate: 05-04-2011] true ischemic heart disease anatomical modifier An anatomical modifier is a quality which inheres in an organism part. James Malone MAT:0000476 tissue modifier A nasal placode A tissue modifier is an anatomical modifier which describes some quality about a tissue. James Malone MAT:0000477 geometric modifier A dorsal fin A geometric modifier is an anatomical modifier which describes some quality about the geometric position of some organism part. James Malone MAT:0000483 obsolete_anlage An anlage is a tissue modifier describing some tissue which precedes something other, such as a precursor or forerunner for a more mature structure. For example, the stomach anlage. James Malone MAT:0000478 stomach anlage 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007688 label: anlage true placode A placode is a tissue modifier describing the thickening of embryonic ectoderm from which a definitive structure develops. For example, the cranial placodes. James Malone MAT:0000479 cranial placodes precursor A precursor is a tissue modifier describing a substance, cell, or cellular component from which another substance, cell, or cellular component is formed. For example, muscle precursor cell. James Malone MAT:0000481 NIFSTD:sao2146594471 Tomasz Adamusiak muscle precursor cell obsolete_primordium A primordium is a tissue modifier describing an organ or tissue in its earliest recognizable stage of development. For example, intestinal primordium. James Malone MAT:0000482 intestinal primordium Use http://purl.obolibrary.org/obo/UBERON_0001048 label: primordium true 2.39 apical Apical is a geometric modifier describing the tip of a pyramidal or rounded structure. For example, lung apical. James Malone MAT:0000484 NIFSTD:sao1703115805 Tomasz Adamusiak lung apical basal Basal is a geometric modifier describing areas associated with the base of an organism or organism part. For example, basal ganglia. James Malone MAT:0000485 NIFSTD:sao-282380853 Tomasz Adamusiak basal ganglia distal Distal is a geometric modifier describing the point furthest from the point of attachment to the body or to some point of origin. For example, distal end of femur. James Malone MAT:0000486 distal end of femur dorsal Dorsal is a geometric modifier describing parts of an organism relating to or situated near or on the back. For example, dorsal fin. James Malone MAT:0000487 dorsal fin lateral James Malone Lateral is a geometric modifier describing something which is of or pertaining to the side. MAT:0000488 left James Malone Left is a geometric modifier describing something which is to the left of the median of an organism or organism part, for example left arm. MAT:0000489 left arm right James Malone MAT:0000492 Right is a geometric modifier describing something which is to the right of the median of an organism or organism part, for example right arm. right arm medial James Malone MAT:0000490 Medial is a geometric modifier describing something which is pertaining to, in or toward the middle, for example medial meniscus. medial meniscus proximal James Malone MAT:0000491 Proximal is a geometric modifier describing the point at which an appendage joins the body or the point nearest to some point of origin, for example proximal tibia. proximal tibia ventral James Malone MAT:0000493 Ventral is a geometric modifier describing parts pertaining to the front or anterior of any structure, for example ventral striatum. ventral striatum prostate carcinoma Cancer of Prostate Cancer of Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011] Cancer of the Prostate Cancer of the Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011] Carcinoma of Prostate Carcinoma of Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011] Carcinoma of the Prostate Carcinoma of the Prostate[accessedResource: NCIt:C4863][accessDate: 05-04-2011] DOID:10286 James Malone NCIt:C4863 OMIM:176807 One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease. -- 2002 One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease. -- 2002[accessedResource: NCIt:C4863][accessDate: 05-04-2011] Prostate Cancer Prostate Cancer[accessedResource: NCIt:C4863][accessDate: 05-04-2011] Tomasz Adamusiak true foreskin A fold of skin that covers the glans of the penis. A fold of skin that covers the glans of the penis.[accessedResource: BTO:0001113][accessDate: 05-04-2011] BTO:0001113 James Malone prepuce prepuce[accessedResource: BTO:0001113][accessDate: 05-04-2011] aortic aneurysm An abnormal balloon- or sac-like dilatation in the wall of AORTA. An abnormal balloon- or sac-like dilatation in the wall of AORTA.[accessedResource: MSH:D001014][accessDate: 05-04-2011] Aneurysm, Aortic Aneurysm, Aortic[accessedResource: MSH:D001014][accessDate: 05-04-2011] Aneurysms, Aortic Aneurysms, Aortic[accessedResource: MSH:D001014][accessDate: 05-04-2011] Aortic Aneurysms Aortic Aneurysms[accessedResource: MSH:D001014][accessDate: 05-04-2011] James Malone MP:0006278 MSH:D001014 OMIM:607086 Tomasz Adamusiak a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall a protruding sac formed by the dilation of the wall of the aorta resulting from a weakening of the vessel wall[accessedResource: MP:0006278][accessDate: 05-04-2011] protruding sac formed by dilation of the aorta CEM/C1 ATCC number: CRL-2265 James Malone CEM-c1 human papilloma virus infection HPV Human Papilloma Virus Infection Human Papilloma Virus Infection[accessedResource: NCIt:C27851][accessDate: 05-04-2011] James Malone NCIt:C27851 influenza infection An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system. An acute viral infection of the respiratory tract, occurring in isolated cases, in epidemics, or in pandemics; it is caused by serologically different strains of viruses (influenzaviruses) designated A, B, and C, has a 3-day incubation period, and usually lasts for 3 to 10 days. It is marked by inflammation of the nasal mucosa, pharynx, and conjunctiva; headache; myalgia; often fever, chills, and prostration; and occasionally involvement of the myocardium or central nervous system.[accessedResource: NCIt:C53482][accessDate: 05-04-2011] James Malone NCIt:C53482 obsolete_mediastinal lymph node A lymph node located in the mediastinum. Mediastinal lymph nodes are arranged in three groups, one on the lateral, another on the medial, and a third on the anterior aspect of the vessels; the third group is, however, sometimes absent. A lymph node located in the mediastinum. Mediastinal lymph nodes are arranged in three groups, one on the lateral, another on the medial, and a third on the anterior aspect of the vessels; the third group is, however, sometimes absent.[accessedResource: NCIt:C33073][accessDate: 05-04-2011] James Malone NCIt:C33073 true Use http://purl.obolibrary.org/obo/UBERON_0002524 label: mediastinal lymph node 2.38 placebo An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial. An inactive substance, treatment or procedure that is intended to provide baseline measurements for the experimental protocol of a clinical trial.[accessedResource: NCIt:C753][accessDate: 05-04-2011] James Malone NCIt:C753 PLCB PLCB[accessedResource: NCIt:C753][accessDate: 05-04-2011] placebo therapy placebo therapy[accessedResource: NCIt:C753][accessDate: 05-04-2011] sham therapy sham therapy[accessedResource: NCIt:C753][accessDate: 05-04-2011] simian immunodeficiency virus infection An HIV-like virus that infects monkeys, chimpanzees, and other non-human primates. (AIDS Info HIV Glossary) An HIV-like virus that infects monkeys, chimpanzees, and other non-human primates. (AIDS Info HIV Glossary)[accessedResource: NCIt:C14274][accessDate: 05-04-2011] James Malone NCIt:C14274 SIV SIV[accessedResource: NCIt:C14274][accessDate: 05-04-2011] size A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude.[accessedResource: PATO:0000117][accessDate: 05-04-2011] James Malone PATO:0000117 Size is a morphology quality which describes a material entity's physical magnitude. area A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent. A 2-D extent quality inhering in a bearer by virtue of the bearer's two dimensional extent.[accessedResource: PATO:0001323][accessDate: 05-04-2011] An area is a size quality which describes the two dimensional extent of a material entity. James Malone PATO:0001323 temperature A physical quality of the thermal energy of a system. A physical quality of the thermal energy of a system.[accessedResource: PATO:0000146][accessDate: 05-04-2011] James Malone Jie Zheng MO_791 PATO:0000146 Temperature is a physical quality of the thermal energy of a system. Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#temperature derived mass unit A dervied mass unit is a derived unit which is a measure of the the amount of matter/energy of a physical object, derived from the base unit for mass. James Malone PERSON: James Malone volume A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies. A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies.[accessedResource: PATO:0000918][accessDate: 05-04-2011] A volume is a size quality which describes the amount of 3-dimensional space an object occupies. James Malone NIFSTD:birnlex_2391 NIFSTD:sao196989303 PATO:0000918 Tomasz Adamusiak femtometer A femtometer is a length unit which is equal to 1m x 10^-15. James Malone PERSON: James Malone femtometre fm array manufacturer MO_890 Tomasz Adamusiak array_manufacturer array_manufacturer[accessedResource: MO_890][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#array_manufacturer biomaterial provider MO_591 Tomasz Adamusiak biomaterial_provider biomaterial_provider[accessedResource: MO_591][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#biomaterial_provider biosequence provider MO_881 Tomasz Adamusiak biosequence_provider biosequence_provider[accessedResource: MO_881][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#biosequence_provider consortium member MO_778 Tomasz Adamusiak consortium_member consortium_member[accessedResource: MO_778][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#consortium_member consultant MO_984 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#consultant curator MO_893 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#curator data analyst MO_753 Tomasz Adamusiak data_analyst data_analyst[accessedResource: MO_753][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#data_analyst data coder MO_695 Tomasz Adamusiak data_coder data_coder[accessedResource: MO_695][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#data_coder funder MO_520 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#funder hardware manufacturer MO_763 Tomasz Adamusiak hardware_manufacturer hardware_manufacturer[accessedResource: MO_763][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#hardware_manufacturer institution MO_601 NIFSTD:birnlex_2085 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#institution investigator MO_769 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#investigator software manufacturer MO_475 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#software_manufacturer software_manufacturer software_manufacturer[accessedResource: MO_475][accessDate: 05-04-2011] submitter MO_882 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#submitter publication status An information entity about the status of a publication describing the experiment. Tomasz Adamusiak cell component comparison design MO_1019 Tomasz Adamusiak cell_component_comparison_design cell_component_comparison_design[accessedResource: MO_1019][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cell_component_comparison_design A cell component comparison study design in which RNA from different cell components is examined. A design in which RNA from different cell components is examined. Natalja Kurbatova cell cycle design MO_822 Tomasz Adamusiak cell_cycle_design cell_cycle_design[accessedResource: MO_822][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cell_cycle_design A cell cycle design study design type is one that assays events that occurs in relation to the cell cycle, which is the period between the formation of a cell, by division of its mother cell and the time when the cell itself divides to form two daughter cells. Natalja Kurbatova cell type comparison design MO_764 Tomasz Adamusiak cell_type_comparison_design cell_type_comparison_design[accessedResource: MO_764][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cell_type_comparison_design A cell type study design experiment design type compares cells of different type for example different cell lines. Natalja Kurbatova development or differentiation design MO_892 Tomasz Adamusiak development_or_differentiation_design development_or_differentiation_design[accessedResource: MO_892][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#development_or_differentiation_design A development or differentiation study design type assays events associated with development or differentiation or moving through a life cycle. Development applies to organism(s) acquiring a mature state, and differentiation applies to cells acquiring specialized functions. Natalja Kurbatova imprinting design MO_914 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#imprinting_design imprinting_design imprinting_design[accessedResource: MO_914][accessDate: 05-04-2011] Natalja Kurbatova An imprinting study design type compares differences in genetic imprinting of maternally- and paternally-inherited chromosomes (e.g., due to in vivo differences in chemical modification and/or chromatin structure). genotype design MO_527 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#individual_genetic_characteristics_design individual_genetic_characteristics_design individual_genetic_characteristics_design[accessedResource: MO_527][accessDate: 05-04-2011] A genotype study design type compares genotype, haplotype, or other individual genetic characteristics. Natalja Kurbatova innate behavior design MO_355 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#innate_behavior_design innate_behavior_design innate_behavior_design[accessedResource: MO_355][accessDate: 05-04-2011] Natalja Kurbatova An innate behaviour study design type in which the innate behavior of the organism is examined, e.g. path finding in bees. organism part comparison design MO_953 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#organism_part_comparison_design organism_part_comparison_design organism_part_comparison_design[accessedResource: MO_953][accessDate: 05-04-2011] An organism part comparison study design type compares tissues, regions, organs within or between organisms. Natalja Kurbatova organism status design MO_841 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#organism_status_design organism_status_design organism_status_design[accessedResource: MO_841][accessDate: 05-04-2011] Natalja Kurbatova A design that compares samples from live and dead organisms. sex design MO_575 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#sex_design sex_design sex_design[accessedResource: MO_575][accessDate: 05-04-2011] A sex study design type assays differences associated with an organism's sex, gender or mating type. Natalja Kurbatova species design MO_675 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#species_design species_design species_design[accessedResource: MO_675][accessDate: 05-04-2011] A species study design type assays differences between distinct species. Natalja Kurbatova strain or line design MO_462 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#strain_or_line_design strain_or_line_design strain_or_line_design[accessedResource: MO_462][accessDate: 05-04-2011] A strain or line study design type assays differences between multiple strains, cultivars, serovars, isolates, lines from organisms of a single species. Natalja Kurbatova compound treatment design MO_555 Tomasz Adamusiak compound_treatment_design compound_treatment_design[accessedResource: MO_555][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#compound_treatment_design Natalja Kurbatova A compound treatment study design type is where the response to administration of a compound or chemical (including biological compounds such as hormones) is assayed. disease state design MO_902 Tomasz Adamusiak disease_state_design disease_state_design[accessedResource: MO_902][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#disease_state_design Natalja Kurbatova A disease state study design type in which the pathological condition of a part, organ, or system of an organism is studied. The etiology may be from infection, genetic defect, or environmental stress. dose response design MO_485 Tomasz Adamusiak dose_response_design dose_response_design[accessedResource: MO_485][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#dose_response_design Natalja Kurbatova A dose response study design type examines the relationship between the size of the administered dose and the extent of the response of the organism(s). genetic modification design MO_447 Tomasz Adamusiak genetic_modification_design genetic_modification_design[accessedResource: MO_447][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#genetic_modification_design A genetic modification study design type is where an organism(s) has had genetic material removed, rearranged, mutagenized or added, such as knock out. Natalja Kurbatova growth condition design MO_588 Tomasz Adamusiak growth_condition_design growth_condition_design[accessedResource: MO_588][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#growth_condition_design Natalja Kurbatova A growth condition study design type is where some part of the growth condition is changed for the purposes of the experiment, examples of growth conditions changed are media, temperature, humidity, light, nutrients. injury design MO_726 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#injury_design injury_design injury_design[accessedResource: MO_726][accessDate: 05-04-2011] Natalja Kurbatova An injury study design type is where the response of an organism(s) to injury or damage is studied. pathogenicity design MO_807 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#pathogenicity_design pathogenicity_design pathogenicity_design[accessedResource: MO_807][accessDate: 05-04-2011] A pathogenicity study design type is where an infective agent such as a bacterium, virus, protozoan, fungus etc. infects a host organism(s) and the infective agent is assayed. Natalja Kurbatova stimulus or stress design MO_568 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#stimulus_or_stress_design stimulus_or_stress_design stimulus_or_stress_design[accessedResource: MO_568][accessDate: 05-04-2011] A stimulus or stress study design type is where the response of an organism(s) to the stress or stimulus is studied, e.g. osmotic stress, heat shock, radiation exposure, behavioral treatment etc. Natalja Kurbatova all pairs MO_565 Tomasz Adamusiak all_pairs all_pairs[accessedResource: MO_565][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#all_pairs An all pairs study design type is where all labeled extracts are compared to every other labeled extract. Natalja Kurbatova array platform variation design MO_899 Tomasz Adamusiak array_platform_variation_design array_platform_variation_design[accessedResource: MO_899][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#array_platform_variation_design Natalja Kurbatova An experiment in which the array platform is compared, e.g. Agilent versus Affy. dye swap design MO_858 Tomasz Adamusiak dye_swap_design dye_swap_design[accessedResource: MO_858][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#dye_swap_design Natalja Kurbatova A dye swap study design type where the label orientations are reversed. exact synonym: flip dye, dye flip obsolete_ex vivo design MO_808 Tomasz Adamusiak true hardware variation design MO_734 Tomasz Adamusiak hardware_variation_design hardware_variation_design[accessedResource: MO_734][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#hardware_variation_design A hardware variation study design type compares different types of hardware for performance, reproducibility, accuracy and precision. Natalja Kurbatova obsolete_in vitro design MO_347 Tomasz Adamusiak true obsolete_in vivo design MO_454 Tomasz Adamusiak true loop design MO_912 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#loop_design loop_design loop_design[accessedResource: MO_912][accessDate: 05-04-2011] Natalja Kurbatova A loop study design is where labeled extracts are compared in consecutive pairs. synonym: circular design. normalization testing design MO_729 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#normalization_testing_design normalization_testing_design normalization_testing_design[accessedResource: MO_729][accessDate: 05-04-2011] Natalja Kurbatova A normalization testing study design tests different normalization procedures. operator variation design MO_519 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#operator_variation_design operator_variation_design operator_variation_design[accessedResource: MO_519][accessDate: 05-04-2011] An operator variation study design type assesses the operator performance and relation to data consistency and quality. Natalja Kurbatova optimization design MO_934 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#optimization_design optimization_design optimization_design[accessedResource: MO_934][accessDate: 05-04-2011] Natalja Kurbatova An optimization study design type is where different protocols or protocol parameters are compared. quality control testing design MO_981 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#quality_control_testing_design quality_control_testing_design quality_control_testing_design[accessedResource: MO_981][accessDate: 05-04-2011] A quality control testing study design type is where some aspect of the experiment is quality controlled for the purposes of quality assurance. Natalja Kurbatova reference design MO_699 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#reference_design reference_design reference_design[accessedResource: MO_699][accessDate: 05-04-2011] Natalja Kurbatova A reference study design type is where all samples are compared to a common reference. replicate design MO_885 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#replicate_design replicate_design replicate_design[accessedResource: MO_885][accessDate: 05-04-2011] A replicate study design type is where a series of replicates are performed to evaluate reproducibility or as a pilot study to determine the appropriate number of replicates for a subsequent experiments. Natalja Kurbatova self vs self design MO_490 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#self_vs_self_design self_vs_self_design self_vs_self_design[accessedResource: MO_490][accessDate: 05-04-2011] A self vs. self study design investigates variance and error estimates in the experimental system, and is where the same extract is compared. Natalja Kurbatova software variation design MO_643 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#software_variation_design software_variation_design software_variation_design[accessedResource: MO_643][accessDate: 05-04-2011] Natalja Kurbatova A software variation study design type compares different types of software for performance, accuracy, precision and reproducibility. time series design MO_887 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#time_series_design time_series_design time_series_design[accessedResource: MO_887][accessDate: 05-04-2011] A time series study design type examines groups of assays that are related as part of a time series. Natalja Kurbatova clinical history design MO_832 Tomasz Adamusiak clinical_history_design clinical_history_design[accessedResource: MO_832][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#clinical_history_design Natalja Kurbatova A clinical history study design type is where the organisms clinical history of diagnosis, treatments, e.g. vaccinations, surgery etc. is studied. obsolete_disease state design 1.8 MO_902 Tomasz Adamusiak duplication with EFO_0001756 true obsolete_family history design MO_544 Tomasz Adamusiak A family history study design type is where the family history such as traits, characteristics, susceptibility to disease is studied. true RNA stability design MO_553 RNA_stability_design RNA_stability_design[accessedResource: MO_553][accessDate: 05-04-2011] Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#RNA_stability_design A RNA stability study design type examines the stability and/or decay of RNA transcripts. Natalja Kurbatova genotyping design MO_560 Tomasz Adamusiak genotyping_design genotyping_design[accessedResource: MO_560][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#genotyping_design A genotyping experiment design type classifies an individual or group of individuals on the basis of alleles, haplotypes, SNP's. Natalja Kurbatova operon identification design MO_772 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#operon_identification_design operon_identification_design operon_identification_design[accessedResource: MO_772][accessDate: 05-04-2011] Natalja Kurbatova An operon identification experiment type is designed to identify locations and members of operons in a genome. secreted protein identification design MO_694 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#secreted_protein_identification_design secreted_protein_identification_design secreted_protein_identification_design[accessedResource: MO_694][accessDate: 05-04-2011] Natalja Kurbatova A secreted protein identification design type identifies transcripts associated with a secretory pathway during translation and is used to infer which proteins are secreted or membrane bound. translational bias design MO_939 Tomasz Adamusiak http://mged.sourceforge.net/ontologies/MGEDOntology.owl#translational_bias_design translational_bias_design translational_bias_design[accessedResource: MO_939][accessDate: 05-04-2011] Natalja Kurbatova A translational bias is an experiment design which characterizes the association of transcripts and translation machinery. submitted Publication submitted to a journal for publication. Tomasz Adamusiak in preparation Publication in preparation before submitting to a journal. Tomasz Adamusiak published Publication published in a journal. Tomasz Adamusiak ethnic group A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (MSH); A social group characterized by a distinctive social and cultural tradition maintained from generation to generation, a common history and origin and a sense of identification with the group; members of the group have distinctive features in their way of life, shared experiences and often a common genetic heritage; these features may be reflected in their experience of health and disease. (NCI); Ethnicity - an arbitrary classification of the social group a person belongs to, and either identifies with or is identified with by others, as a result of a complex of cultural, biological, geographical and other factors such as linguistic, dietary and religion traditions; ancestry, background, allegiance, or association; and physical characteristics traditionally associated with race. Increasingly the concept is used synonymously with race but this use trend has a pragmatic basis rather than scientific. (NCI); The concept of ethnic origin is an attempt to classify people, not according to their current ethnicity, but according to where their ancestors came from. Ethnic origin has become a popular classification in statistics, where the concept of race has been largely discarded. (from Wikipedia) (NCI); a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (CSP) A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (MSH); A social group characterized by a distinctive social and cultural tradition maintained from generation to generation, a common history and origin and a sense of identification with the group; members of the group have distinctive features in their way of life, shared experiences and often a common genetic heritage; these features may be reflected in their experience of health and disease. (NCI); Ethnicity - an arbitrary classification of the social group a person belongs to, and either identifies with or is identified with by others, as a result of a complex of cultural, biological, geographical and other factors such as linguistic, dietary and religion traditions; ancestry, background, allegiance, or association; and physical characteristics traditionally associated with race. Increasingly the concept is used synonymously with race but this use trend has a pragmatic basis rather than scientific. (NCI); The concept of ethnic origin is an attempt to classify people, not according to their current ethnicity, but according to where their ancestors came from. Ethnic origin has become a popular classification in statistics, where the concept of race has been largely discarded. (from Wikipedia) (NCI); a group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. (CSP)[accessedResource: NIFSTD:birnlex_3016][accessDate: 05-04-2011] An ethnic group is a population whose members have a common heritage that is real or presumed such as common culture, language, religion, behaviour or biological trait. Ethnicity Ethnicity[accessedResource: NIFSTD:birnlex_3016][accessDate: 05-04-2011] James Malone NIFSTD:birnlex_3016 Tomasz Adamusiak http://en.wikipedia.org/wiki/Ethnic_group race hormone role James Malone drug role James Malone aerial part BTO:0001658 Existing or growing in the air rather than in the ground or in water. Existing or growing in the air rather than in the ground or in water.[accessedResource: BTO:0001658][accessDate: 05-04-2011] James Malone aerial body aerial tissue articular cartilage A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints. A thin layer of cartilage, usually hyaline, on the articular surface of bones in synovial joints.[accessedResource: BTO:0001572][accessDate: 05-04-2011] BTO:0001572 BTO:0001572 James Malone hyaline cartilage nervous system developmental tissue basal plate James Malone NCIt:C34111 obsolete_blood plasma BTO:0000131 BTO:0000131 Blood plasma is a yellow liquid component of blood, in which the blood cells in whole blood would normally be suspended. James Malone The fluid portion of the blood in which the particulate components are suspended. The fluid portion of the blood in which the particulate components are suspended.[accessedResource: BTO:0000131][accessDate: 05-04-2011] plasma Use http://purl.obolibrary.org/obo/UBERON_0001969 label: blood plasma true 2.38 obsolete_capillary A capillary tube; especially: any of the smallest blood vessels connecting arterioles with venules and forming networks throughout the body. A capillary tube; especially: any of the smallest blood vessels connecting arterioles with venules and forming networks throughout the body.[accessedResource: BTO:0002045][accessDate: 05-04-2011] BTO:0002045 James Malone NCIt:C12685 Tiny blood vessels that connect the arterioles with the venules. Tiny blood vessels that connect the arterioles with the venules.[accessedResource: NCIt:C12685][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0001982 label: capillary 2.38 dorsal skin Dorsal skin is a skin found at the dorsal area of an animal. James Malone caudal Caudal is a geometric modifier which indicates a position towards the tail. James Malone caudal fin Fin that is the most posterior median fin. It is composed of a complex of three modified centra and modified neural and hemal arches and spines. Fin that is the most posterior median fin. It is composed of a complex of three modified centra and modified neural and hemal arches and spines.[accessedResource: ZFA:0001058][accessDate: 05-04-2011] James Malone ZFA:0001058 tail fin tail fin[accessedResource: ZFA:0001058][accessDate: 05-04-2011] tail[accessedResource: ZFA:0001058][accessDate: 05-04-2011] brain structure developmental tissue A brain structure developmental tissue is a nervous system developmental tissue from which mature, fully developed brain structures will emerge during growth of an organism. James Malone obsolete_caudal ganglionic eminence A caudal ganglionic eminence is a transitory brain structure present in the embryonic and fetal stages of brain development and that is located towards the caudal end. James Malone 2.38 Use http://purl.obolibrary.org/obo/UBERON_0004026 label: caudal ganglionic eminence true obsolete_caudate putamen A centrally-located portion of the brain affected by Huntington's Disease. The putamen is structurally similar to the caudate nucleus together with which it composes what is termed the striatum. A centrally-located portion of the brain affected by Huntington's Disease. The putamen is structurally similar to the caudate nucleus together with which it composes what is termed the striatum.[accessedResource: BTO:0000212][accessDate: 05-04-2011] BTO:0000212 James Malone Use http://purl.obolibrary.org/obo/UBERON_0005383 label: caudate putamen 2.38 true obsolete_cervix epithelium James Malone MA:0001724 NCIt:C49218 2.38 Use http://purl.obolibrary.org/obo/UBERON_0004801 label: cervix epithelium true obsolete_brain ventricle A brain ventricle is a brain structure consisting of communicating cavities in the brain that are continuous with the central canal of the spinal cord. Any of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord. Any of the system of communicating cavities in the brain that are continuous with the central canal of the spinal cord.[accessedResource: BTO:0001442][accessDate: 05-04-2011] BTO:0001442 James Malone true Use http://purl.obolibrary.org/obo/UBERON_0004086 label: brain ventricle 2.38 obsolete_choroid plexus BTO:0000258 James Malone The choroid plexus is a brain structure located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord. The choroid plexus is tissue located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord. The choroid plexus is tissue located in the spaces inside the brain called ventricles. The choroid plexus makes the fluid that fills the ventricles and surrounds the brain and spinal cord.[accessedResource: BTO:0000258][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001886 label: choroid plexus true 2.38 conjunctival epithelium James Malone NCIt:C32365 obsolete_corneal epithelium BTO:0000287 James Malone NCIt:C12928 Posterior epithelium of cornea: the mesothelial layer covering the posterior surface of the posterior limiting lamina of the cornea; it was once believed to extend to the anterior surface of the stroma of the iris. Posterior epithelium of cornea: the mesothelial layer covering the posterior surface of the posterior limiting lamina of the cornea; it was once believed to extend to the anterior surface of the stroma of the iris.[accessedResource: BTO:0000287][accessDate: 05-04-2011] Stratified squamous epithelium that covers the outer surface of the cornea. (MeSH) Stratified squamous epithelium that covers the outer surface of the cornea. (MeSH)[accessedResource: NCIt:C12928][accessDate: 05-04-2011] anterior endothelium of cornea corneal endothelium endothelium anterius corneae endothelium camerae anterioris bulbi endothelium corneale epithelium posterius corneae true Use http://purl.obolibrary.org/obo/UBERON_0001772 label: corneal epithelium 2.38 obsolete_decidua basalis James Malone NCIt:C32426 true Use http://purl.obolibrary.org/obo/UBERON_0000453 label: decidua basalis 2.38 obsolete_dorsal raphe nucleus A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic. A large raphe nucleus extending from the anterior part of the pons through the mesencephalon; its neurons are serotoninergic.[accessedResource: BTO:0002434][accessDate: 05-04-2011] BTO:0002434 Dorsal raphe Dorsal raphe[accessedResource: NIFSTD:birnlex_982][accessDate: 05-04-2011] James Malone NIFSTD:birnlex_982 Tomasz Adamusiak nucleus raphes dorsalis nucleus raphes posterior posterior raphe nucleus Use http://purl.obolibrary.org/obo/UBERON_0002043 label: dorsal raphe nucleus 2.38 true obsolete_entorhinal cortex Area 28 of Brodmann (Crosby) Area 28 of Brodmann (Crosby)[accessedResource: FMA:72356][accessDate: 05-04-2011] Entorhinal area Entorhinal area[accessedResource: FMA:72356][accessDate: 05-04-2011] FMA:72356 James Malone MSH:D018728 Secondary olfactory cortex Secondary olfactory cortex[accessedResource: FMA:72356][accessDate: 05-04-2011] Secondary olfactory cortical area (Carpenter) Secondary olfactory cortical area (Carpenter)[accessedResource: FMA:72356][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0002728 label: entorhinal area 2.38 true obsolete_extraocular muscle Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit. Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit.[accessedResource: BTO:0001579][accessDate: 05-04-2011] BTO:0001579 Extra-ocular muscle[accessedResource: FMA:49033][accessDate: 05-04-2011] Extrinsic muscle of eyeball[accessedResource: FMA:49033][accessDate: 05-04-2011] FMA:49033 extra-ocular muscle extrinsic muscle of eyeball Use http://purl.obolibrary.org/obo/UBERON_0001601 label: extra-ocular muscle true 2.38 female accessory gland ACgl Develops from male repressed primordium. FBbt:00004914 Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen. Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen. Small, bilaterally paired gland that lies behind the spermathecae and is connected to the uterus by a duct. The gland wall consists of a single layer of polygonal cells, each with a large vacuole and a minute acidophillic granule towards the gland lumen.[accessedResource: FBbt:00004914][accessDate: 05-04-2011] colleterial gland parovarium parovarium[accessedResource: FBbt:00004914][accessDate: 05-04-2011] floor of mouth Floor of the Mouth Floor of the Mouth[accessedResource: NCIt:C54187][accessDate: 05-04-2011] James Malone NCIt:C54187 The area of the mouth under the ventral surface of the tongue. The area of the mouth under the ventral surface of the tongue.[accessedResource: NCIt:C54187][accessDate: 05-04-2011] flower bud A bud that will develop into a flower. A bud that will develop into a flower.[accessedResource: BTO:0000470][accessDate: 05-04-2011] BTO:0000470 James Malone gum BTO:0000519 FMA:59762 Gingiva[accessedResource: FMA:59762][accessDate: 05-04-2011] Gingival Gingival[accessedResource: NCIt:C32677][accessDate: 05-04-2011] James Malone NCIt:C32677 The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering. The soft tissue surrounding the neck of individual teeth as well as covering the alveolar bone. The tissue is fibrous and continuous with the periodontal ligament and mucosal covering.[accessedResource: NCIt:C32677][accessDate: 05-04-2011] The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues. The tissue that surrounds the necks of teeth and covers the alveolar parts of the jaws; broadly: the alveolar portion of a jaw with its enveloping soft tissues.[accessedResource: BTO:0000519][accessDate: 05-04-2011] gingiva gums gums[accessedResource: NCIt:C32677][accessDate: 05-04-2011] gynoecium BTO:0001733 GRO:000543 James Malone PO:0009062 The female reproductive organs of a flower; the pistil or pistils considered as a group. The female reproductive organs of a flower; the pistil or pistils considered as a group.[accessedResource: BTO:0001733][accessDate: 05-04-2011] head capsule FBbt:00004482 James Malone The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts. The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts.[accessedResource: FBbt:00004482][accessDate: 05-04-2011] obsolete_hindlimb muscle AAO:0000222 James Malone MA:0000663 true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0003663 label: hindlimb muscle hip BTO:0001457 C64193 James Malone MSH:D006615 The hip is an animal body part which is the laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them. The lateral prominence of the pelvis from the waist to the thigh. The lateral prominence of the pelvis from the waist to the thigh.[accessedResource: C64193][accessDate: 05-04-2011] The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them. The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them.[accessedResource: BTO:0001457][accessDate: 05-04-2011] true hypoblast James Malone TAO:0000117 The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995. The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm. Kimmel et al, 1995.[accessedResource: TAO:0000117][accessDate: 05-04-2011] The inner of the two layers of the blastoderm that forms during gastrulation and give rise to the definitive mesoderm and endoderm.[accessedResource: ZFA:0000117][accessDate: 05-04-2011] ZFA:0000117 mesendoderm mesendoderm[accessedResource: TAO:0000117][accessDate: 05-04-2011] hypocotyl BTO:0000613 GRO:0005342 James Malone PO:0020100 The part of the axis of a plant embryo or seedling below the cotyledon. The part of the axis of a plant embryo or seedling below the cotyledon.[accessedResource: BTO:0000613][accessDate: 05-04-2011] obsolete_hypopharynx 1.5 BTO:0001740 James Malone NCIt:C12246 Obsolete - duplication use laryngopharynx EFO_0001388 instead The hypopharynx is part of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus. The lower part of the pharynx that connects to the esophagus. The portion of the pharynx that lies below the upper edge of the epiglottis and opens into the larynx and esophagus. true wing disc BTO:0001464 James Malone The entire dorsal mesothoracic disc (wing, notal, and pleural parts), in the larval stage of Drosophila. The entire dorsal mesothoracic disc (wing, notal, and pleural parts), in the larval stage of Drosophila.[accessedResource: BTO:0001464][accessDate: 05-04-2011] wing imaginal disc dorsal mesothoracic disc obsolete_vomeronasal organ James Malone Jacobson's organ The vomeronasal organ (VNO), or Jacobson's organ, is an auxiliary olfactory sense organ that is found in many animals. It was discovered by Ludwig Jacobson in 1813. During embryological development, it forms from the nasal (olfactory) placode, at the anterior edge of the neural plate. It is a chemoreceptor organ which is completely separated from the nasal cavity the majority of the time, being enclosed in a separate bony or cartilaginous capsule which opens into the base of the nasal cavity. It is a tubular crescent shape and split into two pairs, separated by the nasal septum. It is the first processing stage of the accessory olfactory system, after which chemical stimuli go to the accessory olfactory bulb, then to targets in the amygdala and hypothalamus. The vomeronasal organ is mainly used to detect pheromones, chemical messengers that carry information between individuals of the same species, hence is sometimes referred to as the 'sixth sense. ' The VNO has two separate types of neuronal receptors, V1R and V2R, which are seven-transmembrane receptors that are coupled to G proteins. The receptors are distinct from each other and form the large family of receptors in the main olfactory system. Evidence shows that the VNO responds to nonvolatile cues which stimulate the receptor neurons. Information is then transferred to the accessory olfactory bulb as well as other centres of the brain such as the anterior part of the hypothalamus. Its presence in many animals has been widely studied and the importance of the vomeronasal system to the role of reproduction and social behavior (through influence on anterior hypothalamus) has been shown in many studies. Its presence and functionality in humans is widely controversial, though most studies agree the organ regresses during fetal development. [WP,unvetted]. true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002255 label: vomeronasal organ http://purl.obolibrary.org/obo/UBERON_0002255 obsolete_ventral tegmental area FMA:72438 James Malone Ventral tegmental area of Tsai Ventral tegmental area of Tsai[accessedResource: FMA:72438][accessDate: 05-04-2011] Ventral tegmental nucleus (Tsai) Ventral tegmental nucleus (Tsai)[accessedResource: FMA:72438][accessDate: 05-04-2011] Ventral tegmental nucleus of Tsai Ventral tegmental nucleus of Tsai[accessedResource: FMA:72438][accessDate: 05-04-2011] ventral tegmental true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002691 label: ventral tegmental area obsolete_ventral striatum FMA:77614 James Malone 2.38 Use http://purl.obolibrary.org/obo/UBERON_0005403 label: ventral striatum true obsolete_vastus lateralis BTO:0001563 James Malone NCIt:C53073 The division of the quadriceps muscle that covers the outer anterior aspect of the femur, arises chiefly from the femur, and inserts into the outer border of the patella by a flat tendon which blends with that of the other divisions of the muscle and sends an expansion to the capsule of the knee. The division of the quadriceps muscle that covers the outer anterior aspect of the femur, arises chiefly from the femur, and inserts into the outer border of the patella by a flat tendon which blends with that of the other divisions of the muscle and sends an expansion to the capsule of the knee.[accessedResource: BTO:0001563][accessDate: 05-04-2011] vastus externus true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001379 label: vastus lateralis obsolete_quadricep muscle A group of four powerful muscles in the front of the thigh. Their actions involve the extension of the knee joint. A group of four powerful muscles in the front of the thigh. Their actions involve the extension of the knee joint.[accessedResource: NCIt:C33441][accessDate: 05-04-2011] BTO:0001149 James Malone NCIt:C33441 Quadriceps Muscle of the Thigh[accessedResource: NCIt:C33441][accessDate: 05-04-2011] The greater extensor muscle of the front of the thigh that is divided into four parts: rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis. The greater extensor muscle of the front of the thigh that is divided into four parts: rectus femoris, vastus intermedius, vastus lateralis, and vastus medialis.[accessedResource: BTO:0001149][accessDate: 05-04-2011] musculus quadriceps femoris quadriceps quadriceps muscle quadriceps muscle of the thigh quadriceps muscle of thigh quadriceps[accessedResource: BTO:0001149][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001377 label: quadriceps femoris true obsolete_urine BTO:0001419 James Malone Jie Zheng MO_399 Tomasz Adamusiak Waste material that is secreted by the kidney in vertebrates, is rich in end products of protein metabolism together with salts and pigments, and forms a clear amber and usually slightly acid fluid in mammals but is semisolid in birds and reptiles. Waste material that is secreted by the kidney in vertebrates, is rich in end products of protein metabolism together with salts and pigments, and forms a clear amber and usually slightly acid fluid in mammals but is semisolid in birds and reptiles.[accessedResource: BTO:0001419][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#urine 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001088 label: urine obsolete_umbilical vein A vein that passes through the umbilical cord to the fetus and returns the oxygenated and nutrient blood from the placenta to the fetus. A vein that passes through the umbilical cord to the fetus and returns the oxygenated and nutrient blood from the placenta to the fetus.[accessedResource: BTO:0001509][accessDate: 05-04-2011] BTO:0001509 James Malone NCIt:C33830 Use http://purl.obolibrary.org/obo/UBERON_0002066 label: umbilical vein true 2.38 blood component obsolete_umbilical cord blood Blood present in the umbilical vessels at the time of delivery. If cryopreserved at birth, cord blood can serve as a source of autologous lymphocytes for transplantation to a patient later diagnosed and treated for leukemia or lymphoma. Blood present in the umbilical vessels at the time of delivery. If cryopreserved at birth, cord blood can serve as a source of autologous lymphocytes for transplantation to a patient later diagnosed and treated for leukemia or lymphoma.[accessedResource: NCIt:C13300][accessDate: 05-04-2011] Cord Blood Cord Blood[accessedResource: NCIt:C13300][accessDate: 05-04-2011] James Malone NCIt:C13300 Use http://purl.obolibrary.org/obo/UBERON_0012168 label: umbilical cord blood 2.38 true thigh 1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured. 1: The proximal segment of the vertebrate hind limb extending from the hip to the knee and supported by a single large bone.n2: The segment of the leg immediately distal to the thigh in a bird or in a quadruped in which the true thigh is obscured.[accessedResource: BTO:0001376][accessDate: 05-04-2011] BTO:0001376 James Malone obsolete_superior temporal gyrus FMA:61905 James Malone NCIt:C0152309 true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002769 label: superior temporal gyrus obsolete_superior cervical ganglion BTO:0001325 James Malone The uppermost ganglion on the sympathetic trunk, lying behind the internal carotid artery and in front of the second and third cervical vertebrae; it gives rise to postganglionic fibers to the heart via cervical cardiac nerves, to the pharyngeal plexus and thence to the larynx and pharynx, and to the head via the external and internal carotid plexuses. The uppermost ganglion on the sympathetic trunk, lying behind the internal carotid artery and in front of the second and third cervical vertebrae; it gives rise to postganglionic fibers to the heart via cervical cardiac nerves, to the pharyngeal plexus and thence to the larynx and pharynx, and to the head via the external and internal carotid plexuses.[accessedResource: BTO:0001325][accessDate: 05-04-2011] ganglion cervicale superius 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001989 label: superior cervical ganglion true obsolete_soleus muscle A broad flat muscle of the calf of the leg lying immediately below the gastrocnemius. A broad flat muscle of the calf of the leg lying immediately below the gastrocnemius.[accessedResource: BTO:0001265][accessDate: 05-04-2011] BTO:0001265 James Malone Muscle, Soleus soleus soleus[accessedResource: BTO:0001265][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001389 label: soleus muscle true 2.38 shoot apex BTO:0000247 GRO:0000370 James Malone PO:0000037 The terminal bud (0.1 - 1.0 mm) of a plant, which consists of the apical meristem (0.05 - 0.1 mm) and the immediate surrounding leaf primordia and developing leaves and adjacent stem tissue. The terminal bud (0.1 - 1.0 mm) of a plant, which consists of the apical meristem (0.05 - 0.1 mm) and the immediate surrounding leaf primordia and developing leaves and adjacent stem tissue.[accessedResource: BTO:0000247][accessDate: 05-04-2011] shoot tip shoot tip[accessedResource: BTO:0000247][accessDate: 05-04-2011] shoot component A shoot component is a plant component which is specifically part of a plant shoot. muscle A body tissue consisting of long cells that contract when stimulated and produce motion. A body tissue consisting of long cells that contract when stimulated and produce motion.[accessedResource: BTO:0000887][accessDate: 05-04-2011] BTO:0000887 James Malone obsolete_midgut BTO:0000863 FBbt:00005383 James Malone The middle part of an alimentary canal. The middle part of an alimentary canal.[accessedResource: BTO:0000863][accessDate: 05-04-2011] The part of the alimentary canal derived from the endoderm. The part of the alimentary canal extending anteriorly from the proventriculus to close to the point where the Malpighian tubes are attached. It is predominantly derived from the endoderm. The part of the alimentary canal extending anteriorly from the proventriculus to close to the point where the Malpighian tubes are attached. It is predominantly derived from the endoderm.[accessedResource: FBbt:00005383][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001045 label: midgut 2.38 true inferior parietal lobule FMA:77536 James Malone obsolete_internal carotid artery FMA:3947 James Malone NCIt:C32836 carotid artery, internal true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001532 label: internal carotid artery obsolete_external carotid artery FMA:10635 James Malone true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001532 label: external carotid artery division of carotid artery Common carotid arterial subdivision Common carotid arterial subdivision[accessedResource: FMA:70504][accessDate: 05-04-2011] FMA:70504 James Malone Subdivision of common carotid artery Subdivision of common carotid artery[accessedResource: FMA:70504][accessDate: 05-04-2011] heart component A heart component is an animal component that is part of some heart. James Malone obsolete_interventricular septum BTO:0002483 Cardiac septum which separates the right ventricle from the left ventricle. FMA:7133 James Malone The partition that separates the left ventricle from the right ventricle, consisting of a muscular and a membranous part. The partition that separates the left ventricle from the right ventricle, consisting of a muscular and a membranous part.[accessedResource: BTO:0002483][accessDate: 05-04-2011] interventricular septum of heart interventriculare cordis ventricular septum 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002094 label: interventricular septum true obsolete_knee joint FMA:35175 James Malone knee 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001485 label: knee joint true joint component James Malone lateral root PO:0020121 lateral ventricle An internal cavity in each cerebral hemisphere that consists of a central body and three cornua including an anterior one curving forward and outward, a posterior one curving backward, and an inferior one curving downward. An internal cavity in each cerebral hemisphere that consists of a central body and three cornua including an anterior one curving forward and outward, a posterior one curving backward, and an inferior one curving downward.[accessedResource: BTO:0000879][accessDate: 05-04-2011] BTO:0000879 C12834 James Malone Lateral Ventricle of Brain[accessedResource: C12834][accessDate: 05-04-2011] Lateral Ventricles Lateral Ventricles[accessedResource: C12834][accessDate: 05-04-2011] NIFSTD:birnlex_1263 Part of the ventricular system of the brain in each of the cerebral hemispheres. The lateral ventricle in each hemisphere is separated from the other by the septum and each communicates with the THIRD VENTRICLE by the foramen of Monro, In species, particularly those with well developed cortex, the lateral ventrical may be subdivided into anterior, posterior and temporal horns and a body Part of the ventricular system of the brain in each of the cerebral hemispheres. The lateral ventricle in each hemisphere is separated from the other by the septum and each communicates with the THIRD VENTRICLE by the foramen of Monro, In species, particularly those with well developed cortex, the lateral ventrical may be subdivided into anterior, posterior and temporal horns and a body[accessedResource: NIFSTD:birnlex_1263][accessDate: 05-04-2011] The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe. The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe.[accessedResource: C12834][accessDate: 05-04-2011] Tomasz Adamusiak Ventricle, Lateral Ventricle, Lateral[accessedResource: C12834][accessDate: 05-04-2011] Ventricles, Lateral Ventricles, Lateral[accessedResource: C12834][accessDate: 05-04-2011] lateral ventricle of brain obsolete_brain stem BTO:0000146 Brainstem Brainstem[accessedResource: NIFSTD:birnlex_1565][accessDate: 05-04-2011] James Malone NIFSTD:birnlex_1565 The part of the brain composed of the mesencephalon, pons, and medulla oblongata and connecting the spinal cord with the forebrain and cerebrum. The part of the brain composed of the mesencephalon, pons, and medulla oblongata and connecting the spinal cord with the forebrain and cerebrum.[accessedResource: BTO:0000146][accessDate: 05-04-2011] Tomasz Adamusiak truncus encephalicus Use http://purl.obolibrary.org/obo/UBERON_0002298 label: brainstem true 2.38 obsolete_locus coeruleus BTO:0001408 James Malone locus caeruleus locus ceruleus locus ceruleus[accessedResource: BTO:0001408][accessDate: 05-04-2011] locus cinereus Use http://purl.obolibrary.org/obo/UBERON_0002148 label: locus ceruleus 2.38 true male accessory gland FBbt:00004959 James Malone paragonium obsolete_mandible 1: The lower jaw of a vertebrate animal.n2: Either the upper or lower part of the beak in birds. 1: The lower jaw of a vertebrate animal.n2: Either the upper or lower part of the beak in birds.[accessedResource: BTO:0001748][accessDate: 05-04-2011] BTO:0001748 James Malone inferior maxillary bone lower jaw bone mandibula 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001684 label: mandible true obsolete_ligament FMA:30319 James Malone Use http://purl.obolibrary.org/obo/UBERON_0000211 label: ligament 2.38 true medial collateral ligament James Malone Medial Collateral Ligament of the Knee Medial Collateral Ligament of the Knee[accessedResource: NCIt:C33064][accessDate: 05-04-2011] NCIt:C33064 obsolete_medial geniculate nucleus FMA:62211 James Malone MA:0000870 MGN Medial geniculate body Medial geniculate body[accessedResource: FMA:62211][accessDate: 05-04-2011] Medial geniculate complex Medial geniculate complex[accessedResource: FMA:62211][accessDate: 05-04-2011] Medial geniculate nuclei Medial geniculate nuclei[accessedResource: FMA:62211][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001927 label: medial geniculate body obsolete_medulla of thymus FMA:72206 James Malone Thymus medulla Thymus medulla[accessedResource: FMA:72206][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002124 label: medulla of thymus true obsolete_myometrium BTO:0000907 James Malone NCIt:C12314 The smooth muscle coat of the uterus, which forms the main mass of the organ. The smooth muscle coat of the uterus, which forms the main mass of the organ.[accessedResource: BTO:0000907][accessDate: 05-04-2011] The smooth muscle lining the uterus. The smooth muscle lining the uterus.[accessedResource: NCIt:C12314][accessDate: 05-04-2011] uterine smooth muscle Use http://purl.obolibrary.org/obo/UBERON_0001296 label: myometrium 2.38 true nucleus of terminal stria Bed nucleus of stria terminalis Bed nucleus of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011] FMA:61884 Intercalate nucleus of stria terminalis Intercalate nucleus of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011] MA:0000925 Nuclei of stria terminalis Nuclei of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011] Nucleus of stria terminalis Nucleus of stria terminalis[accessedResource: FMA:61884][accessDate: 05-04-2011] Stria terminalis nucleus Stria terminalis nucleus[accessedResource: FMA:61884][accessDate: 05-04-2011] obsolete_olfactory epithelium An epithelium located in the roof, superior conchae, and septum of the nasal cavity. It is formed by ciliated olfactory receptor cells, supporting cells and basal cells. Olfactory glands in the epithelium produce and secrete mucus which forms a layer over the epithelium. The cilia of the receptor cells protrude into the mucous layer where molecular reception with odors occurs and sensory transduction begins. An epithelium located in the roof, superior conchae, and septum of the nasal cavity. It is formed by ciliated olfactory receptor cells, supporting cells and basal cells. Olfactory glands in the epithelium produce and secrete mucus which forms a layer over the epithelium. The cilia of the receptor cells protrude into the mucous layer where molecular reception with odors occurs and sensory transduction begins.[accessedResource: NCIt:C33203][accessDate: 05-04-2011] BTO:0000108 FMA:64803 James Malone NCIt:C33203 Olfactory sensory epithelium[accessedResource: FMA:64803][accessDate: 05-04-2011] Pseudostratified epithelium lining the olfactory region of the nasal cavity, and containing the receptors for the sense of smell. Pseudostratified epithelium lining the olfactory region of the nasal cavity, and containing the receptors for the sense of smell.[accessedResource: BTO:0000108][accessDate: 05-04-2011] Sensory olfactory epithelium Sensory olfactory epithelium[accessedResource: FMA:64803][accessDate: 05-04-2011] nasal cavity olfactory epithelium nasal epithelium olfactory mucosa olfactory sensory epithelium Use http://purl.obolibrary.org/obo/UBERON_0001997 label: olfactory epithelium true 2.38 obsolete_olfactory system FMA:7190 MA:0002445 TAO:0001149 XAO:0003196 ZFA:0001149 chemosensory sensory organ true Use http://purl.obolibrary.org/obo/UBERON_0005725 label: olfactory system 2.38 obsolete_optic disc A portion of the retina at which the axons of the ganglion cells exit the eyeball to form the optic nerve. No light-sensitive photoreceptors are contained within this portion of the retina. A portion of the retina at which the axons of the ganglion cells exit the eyeball to form the optic nerve. No light-sensitive photoreceptors are contained within this portion of the retina.[accessedResource: NCIt:C12760][accessDate: 05-04-2011] FMA:58634 James Malone MSH:D009898 NCIt:C12760 Optic Disk Optic Disk[accessedResource: NCIt:C12760][accessDate: 05-04-2011] Optic Nerve Head Optic Nerve Head[accessedResource: NCIt:C12760][accessDate: 05-04-2011] Optic Papilla Optic Papilla[accessedResource: NCIt:C12760][accessDate: 05-04-2011] true true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001783 label: optic disc obsolete_oral cavity 1.8 FMA:20292 James Malone NCIt:C12421 Synonym with mouth, use mouth instead see: EFO_0000825 The cavity located at the upper end of the alimentary canal, behind the teeth and gums that is bounded on the outside by the lips, above by the hard and soft palates and below by the tongue. true obsolete_oropharynx FMA:54879 James Malone NCIt:C12762 Oral part of pharynx Oral part of pharynx[accessedResource: FMA:54879][accessDate: 05-04-2011] The part of the pharynx between the soft palate and the upper portion of the epiglottis. The part of the pharynx between the soft palate and the upper portion of the epiglottis.[accessedResource: NCIt:C12762][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0001729 label: oropharynx 2.38 true obsolete_palatine tonsil FMA:9610 Faucial tonsil Faucial tonsil[accessedResource: FMA:9610][accessDate: 05-04-2011] James Malone NCIt:C33250 Use http://purl.obolibrary.org/obo/UBERON_0002373 label: palatine tonsil true 2.38 obsolete_perirhinal cortex James Malone MA:0000912 2.38 Use http://purl.obolibrary.org/obo/UBERON_0006083 label: Perirhinal cortex true obsolete_plantaris muscle FMA:22543 Plantaris[accessedResource: FMA:22543][accessDate: 05-04-2011] plantaris 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0011905 label: plantaris obsolete_pleura BTO:0001791 James Malone NCIt:C12469 Pleural Tissue Pleural Tissue[accessedResource: NCIt:C12469][accessDate: 05-04-2011] The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side. The delicate serous membrane that lines each half of the thorax of mammals and is folded back over the surface of the lung of the same side.[accessedResource: BTO:0001791][accessDate: 05-04-2011] The tissue that lines the wall of the thoracic cavity and the surface of the lungs. The tissue that lines the wall of the thoracic cavity and the surface of the lungs.[accessedResource: NCIt:C12469][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000977 label: pleura 2.38 true obsolete_mesoderm FMA:69072 James Malone Use http://purl.obolibrary.org/obo/UBERON_0000926 label: mesoderm true 2.38 obsolete_presomitic mesoderm James Malone PSM PSM[accessedResource: ZFA:0000279][accessDate: 05-04-2011] TAO:0000279 Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995. Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form. Kimmel et al, 1995.[accessedResource: TAO:0000279][accessDate: 05-04-2011] Unsegmented field of paraxial mesoderm present posterior to the most recently formed somite pair, from which somites will form.[accessedResource: ZFA:0000279][accessDate: 05-04-2011] XAO:0000057 ZFA:0000279 segmental plate segmental plate[accessedResource: TAO:0000279][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0003059 label: presomitic mesoderm leaf component A leaf component is a plant component which is part of a leaf. James Malone rosette leaf BTO:0001201 James Malone PO:0000014 pulmonary alveolus Alveolus[accessedResource: FMA:82493][accessDate: 05-04-2011] Bronchial Alveolus FMA:82493 James Malone lung structure A lung structuret is a respiratory system component which is part of a lung. James Malone obsolete_cerebral peduncle FMA:62394 James Malone NIFSTD:birnlex_1202 Peduncle of midbrain Peduncle of midbrain[accessedResource: FMA:62394][accessDate: 05-04-2011] Tomasz Adamusiak true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002623 label: cerebral peduncle obsolete_lateral geniculate nucleus FMA:62209 James Malone Lateral geniculate body Lateral geniculate body[accessedResource: FMA:62209][accessDate: 05-04-2011] Lateral geniculate complex Lateral geniculate complex[accessedResource: FMA:62209][accessDate: 05-04-2011] MA:0000869 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001926 label: ateral geniculate body true obsolete_orbitofrontal cortex FMA:242003 James Malone Segment of cortex of frontal lobe Segment of cortex of frontal lobe[accessedResource: FMA:242003][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0004167 label: orbitofrontal cortex true obsolete_superior frontal gyrus FMA:61857 James Malone Marginal gyrus Marginal gyrus[accessedResource: FMA:61857][accessDate: 05-04-2011] Superior frontal convolution Superior frontal convolution[accessedResource: FMA:61857][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002661 label: superior frontal gyrus 2.38 true seedling BTO:0001228 James Malone PO:0008037 The embryonic product of the germination of a seed; the young shoot and root axis. The embryonic product of the germination of a seed; the young shoot and root axis.[accessedResource: BTO:0001228][accessDate: 05-04-2011] fibroblast derived cell line organization role An organization role is a role which is borne by an organization. James Malone microarray wash station A microarray wash station is an instrument used to wash or stain microarrays. James Malone MO_626 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#wash_station wash_station wash_station[accessedResource: MO_626][accessDate: 05-04-2011] software IAO_0000010 Jie Zheng MO_109 Tomasz Adamusiak Ara-C-resistant murine leukemia An Ara-C-resistant murine leukemia is a cell line. A b117h, and a b140h are kinds of Ara-C-resistant murine leukemias. James Malone Natural Language Generator 8th April 2010 Ara-C-sensitive parental cell line G1E A GATA-1-null erythroblast is a cell line. A g1e er4 is a GATA-1-null erythroblast. GATA-1-null erythroblast cell line Natural Language Generator 8th April 2010 murine neuroblastoma cholinergic cell line 4T1 Ele Holloway James Malone 66cl4 Ele Holloway James Malone 67NR Ele Holloway James Malone B117H A b117h is an ara c resistant murine leukemia. Ele Holloway James Malone Natural Language Generator 8th April 2010 B117P Ele Holloway James Malone B140H AB140H is an Ara-C-resistant murine leukemia. Ele Holloway James Malone Natural Language Generator 8th April 2010 B140P Ele Holloway James Malone BC-1 BC1 Ele Holloway James Malone BC-2 Ele Holloway James Malone BC-3 Ele Holloway James Malone BC-5 Ele Holloway James Malone BCBL-1 Ele Holloway James Malone BCKN-1 Ele Holloway James Malone BeWo Ele Holloway James Malone D4 glioblastoma derived primary cell line D4 Ele Holloway James Malone EcR-RKO/KLF4 Ele Holloway James Malone F9 mouse embryonal carcinoma cell line Ele Holloway F9 James Malone Mouse cell line Fu97 Ele Holloway James Malone G1E-ER4 A g1e er4 is a GATA-1-null erythroblast. Ele Holloway James Malone Natural Language Generator 8th April 2010 HaCaT Ele Holloway James Malone HCC1008 Ele Holloway James Malone obsolete_HL60 2.1 BTO:0000738 Ele Holloway Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976. James Malone duplicate with EFO_0002793 true HT1080 Ele Holloway James Malone IBL4 Ele Holloway James Malone ITM Ele Holloway James Malone ITM-E6E7 Ele Holloway James Malone ITM-E6E7-ST Ele Holloway James Malone ITM-ST Ele Holloway James Malone ITV Ele Holloway James Malone JEG3 Ele Holloway James Malone K562 BTO:0000664 Ele Holloway James Malone Human chronic myeloid leukemia in blast crisis established from the pleural effusion of a 53-year-old woman with chronic myeloid leukemia (CML) in blast crisis in 1970; cells can be used as highly sensitive targets in in-vitro natural killer assays; cells produce hemoglobin; cells carry the Philadelphia chromosome with a b3-a2 fusion gene. K-562 K-562 cell K562 cell Kc A Kc is a cell line. A Kc derives from a drosophila melanogaster. Ele Holloway James Malone Natural Language Generator 8th April 2010 KELLY A KELLY is a cell line. A KELLY is all of the following: something that is bearer of a neuroblastoma, something that derives from a Homo sapiens, and something that derives from a brain. Ele Holloway James Malone Natural Language Generator 8th April 2010 LbetaT2 A Lbeta T2 is a cell line. A Lbeta T2 is both something that derives from a mus musculus, and something that derives from a pituitary. Ele Holloway James Malone MCC:0000292 Natural Language Generator 8th April 2010 LNCAP BTO:0001321 Ele Holloway Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive. Human prostate carcinoma, established from the left supraclavicular lymph node metastasis from a 50-year-old man with prostate carcinoma in 1977; cells were described to be androgen-sensitive.[accessedResource: BTO:0001321][accessDate: 05-04-2011] James Malone LNCAP cell LNCaP cell[accessedResource: BTO:0001321][accessDate: 05-04-2011] MCC:0000290 MCF-7aro Ele Holloway James Malone mIMCD-3 Ele Holloway James Malone MCC:0000500 mIMCD3 PC-3 BTO:0001061 Ele Holloway Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment. Human prostate carcinoma cell line; established from the bone marrow metastasis isolated post-mortem from a 62-year-old Caucasian man with grade IV prostate cancer, poorly differentiated adenocarcinoma, after androgen suppression therapy; described to form tumors in nude mice, to grow in soft agar, and to be unresponsive to androgen treatment.[accessedResource: BTO:0001061][accessDate: 05-04-2011] James Malone MCC:0000380 PC-3 cell PC-3 cell[accessedResource: BTO:0001061][accessDate: 05-04-2011] PC3 PC3 cell PEL-5 Ele Holloway James Malone PEL-5 is a human primary effusion lymphoma cell line R1 Ele Holloway James Malone R1 is a mouse embryonic stem cell line. Ramos Ele Holloway James Malone Ramos cell line is an EBV-negative, HLA class 1 positive B-lymphoblastoid cell line derived from a Burkitt lymphoma S1 Ele Holloway James Malone SK-MEL-2 Ele Holloway James Malone SKMEL5 Ele Holloway James Malone SN56.B5.G4 Ele Holloway James Malone ssMCF7 Ele Holloway James Malone SW480 Ele Holloway James Malone T84 Ele Holloway James Malone T98G BTO:0001583 Ele Holloway Human, Caucasian, glioblastoma cell line. Human, Caucasian, glioblastoma cell line.[accessedResource: BTO:0001583][accessDate: 05-04-2011] James Malone MCC:0000457 T-98G cell T-98G cell[accessedResource: BTO:0001583][accessDate: 05-04-2011] T98G cell TIVE Ele Holloway James Malone TIVE is a human cell line. fibrosarcoma technical replicate A technical replicate is a replicate role where the same BioSample is use e.g. the same pool of RNA used to assess technical (as opposed to biological) variation within an experiment. James Malone MO_641 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#technical_replicate technical_replicate technical_replicate[accessedResource: MO_641][accessDate: 05-04-2011] biological replicate A biological replicate is a replicate role that consists of independent biological replicates made from different individual biosamples. James Malone MO_952 biological_replicate http://mged.sourceforge.net/ontologies/MGEDOntology.owl#biological_replicate dye swap replicate A dye swap replicate is a replicate role which is borne by one of a pair of replicate assays in which LabeledExtracts derived from the same BioMaterial used for both assays (e.g., a hybridization or a 2-D gel run) differ only in that the dyes used for labeling have been reversed, e.g., assay 1: A-Cy3 vs. B-Cy5, and assay 2: A-Cy5 vs. B-Cy3. The purpose of using dye-swap replicate pairs is to assess or remove dye-specific biases from the combined experimental results. James Malone MO_901 dye_swap_replicate dye_swap_replicate[accessedResource: MO_901][accessDate: 05-04-2011] http://mged.sourceforge.net/ontologies/MGEDOntology.owl#dye_swap_replicate 1A2 Ele Holloway James Malone 22Rv1 A 22rv1 is a cell line. A 22rv1 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate. Ele Holloway James Malone Natural Language Generator 8th April 2010 5637 Ele Holloway James Malone 639V Ele Holloway James Malone 647V Ele Holloway James Malone 769P Ele Holloway James Malone A101D An a101d is a cell line. An a101d is all of the following: something that is bearer of a melanoma, something that derives from a homo sapiens, and something that derives from a skin. Ele Holloway James Malone Natural Language Generator 8th April 2010 A172 Ele Holloway James Malone A204 Ele Holloway James Malone A375 Ele Holloway James Malone A427 Ele Holloway James Malone A498 Ele Holloway James Malone A673 Ele Holloway James Malone A7 Ele Holloway James Malone ACHN Ele Holloway James Malone AGS Ele Holloway James Malone AN3CA Ele Holloway James Malone ARH77 An arh77 is a cell line. An arh77 is both something that is bearer of a plasma cell neoplasm, and something that derives from a lymphatic system. Ele Holloway James Malone Natural Language Generator 8th April 2010 AsPC1 Ele Holloway James Malone BDCM A BDCM is a cell line. A BDCM is all of the following: something that is bearer of an acute myeloid leukemia, something that derives from a homo sapiens, and something that derives from a lymphatic system. Ele Holloway James Malone Natural Language Generator 8th April 2010 BE2C Ele Holloway James Malone BFTC905 Ele Holloway James Malone BHT101 Ele Holloway James Malone BM1604 A BM1604 is a cell line. A BM1604 is all of the following: something that is bearer of a prostate carcinoma, something that derives from a homo sapiens, and something that derives from a prostate. Ele Holloway James Malone Natural Language Generator 8th April 2010 BV173 Ele Holloway James Malone C32TG Ele Holloway James Malone C33A Ele Holloway James Malone C3A Ele Holloway James Malone C4I Ele Holloway James Malone C4II Ele Holloway James Malone CA46 Ele Holloway James Malone CAL54 Ele Holloway James Malone CAL62 Ele Holloway James Malone CCFSTTG1 Ele Holloway James Malone CCRFCEM Ele Holloway James Malone obsolete_CEMC1 Ele Holloway James Malone true 2.22 duplication with class http://www.ebi.ac.uk/efo/EFO_0001667 label CEM/C1 which should be used instead CESS Ele Holloway James Malone CGTHW1 Ele Holloway James Malone CHL1 Ele Holloway James Malone CHP212 Ele Holloway James Malone CMLT1 Ele Holloway James Malone COLO201 Ele Holloway James Malone COLO320DM Ele Holloway James Malone COLO320HSR Ele Holloway James Malone COLO668 Ele Holloway James Malone COLO704 COLO-704 Ele Holloway James Malone COLO829 COLO-829 Ele Holloway James Malone CORL105 CORL-105 Ele Holloway James Malone CORL23 CORL-23 Ele Holloway James Malone CORL279 Ele Holloway James Malone CORL88 Ele Holloway James Malone CROAP2 CROAP-2 Ele Holloway James Malone CROAP5 CROAP-5 Ele Holloway James Malone CaHPV10 Ele Holloway James Malone CaOv3 Ele Holloway James Malone Caki1 Caki-1 Ele Holloway James Malone Caki2 Caki-2 Ele Holloway James Malone Calu1 Calu-1 Ele Holloway James Malone Calu6 Calu-6 Ele Holloway James Malone Capan1 Capan-1 Ele Holloway James Malone Capan2 Capan-2 Ele Holloway James Malone ChaGoK1 Ele Holloway James Malone D283Med Ele Holloway HTB-185 James Malone D341Med Ele Holloway James Malone DB Ele Holloway James Malone DBTRG05MG DBTRG-05MG James Malone DG75 Ele Holloway James Malone DKMG Ele Holloway James Malone DMS114 DMS 114 Ele Holloway James Malone DMS153 Ele Holloway James Malone DMS273 Ele Holloway James Malone DMS53 DMS-53 Ele Holloway James Malone DMS79 DMS-79 Ele Holloway James Malone DOHH2 Ele Holloway James Malone DU4475 Ele Holloway James Malone Daudi A Daudi Burkitt's lymphoma cell line is a cell line. A Daudi Burkitt's lymphoma cell line is bearer of Daudi Burkitt's lymphoma. Ele Holloway James Malone Natural Language Generator 8th April 2010 Detroit562 Detroit 562 Ele Holloway James Malone DoTc2 DoTc2 4510 Ele Holloway James Malone EB1 Ele Holloway James Malone EB2 Ele Holloway James Malone EB3 Ele Holloway James Malone EFM19 EMF-19 Ele Holloway James Malone EM2 EM-2 Ele Holloway James Malone ES2 Ele Holloway James Malone FaDu Cell line derived from squamous cell carcinoma of the hypopharynx. Ele Holloway James Malone G401 A human cell line derived from a pediatric patient initially classified as Wilm's tumor, reclassified as deriving from a rhabdoid tumor of the kidney Ele Holloway G-401 James Malone G402 A human cell line derived from some renal leiomyeloblastoma Ele Holloway James Malone GA10 Ele Holloway James Malone GCT A Giant Cell Tumor (GCT) cell line derived from a human fibrous histiocytoma lung metastasis Ele Holloway James Malone GDM1 A cell line derived from a human patient with Philadelphia chromosome negative myeloproliferative disorder, after transformation to acute myelomonoblastic leukemia.http://www.ncbi.nlm.nih.gov/pubmed/6296552 Ele Holloway GDM 1 James Malone H4 Ele Holloway James Malone HCC1395 Ele Holloway James Malone HCC1599 Ele Holloway James Malone HCC2218 Ele Holloway James Malone HCT15 Ele Holloway HCT-15 James Malone HCT8 Ele Holloway HCT-8 James Malone HDMYZ Ele Holloway James Malone HEC1A Ele Holloway HEC-1A James Malone HEC1B Ele Holloway HEC-1-B James Malone HEL9217 Ele Holloway James Malone HH Ele Holloway James Malone HMCB Ele Holloway James Malone HOS Ele Holloway James Malone HPAC Ele Holloway James Malone HPAFII Ele Holloway James Malone HSSultan Ele Holloway James Malone HT Ele Holloway James Malone obsolete_HT1080 1.8 Ele Holloway James Malone duplicate with EFO_0002059 true HT1197 Ele Holloway HT-1197 James Malone HT1376 Ele Holloway HT-1376 James Malone HT3 Ele Holloway HT-3 James Malone Hep3B Ele Holloway Hep-3B James Malone obsolete_HepG2 1.8 Duplicate with EFO_0001187 Ele Holloway James Malone true HuNS1 Ele Holloway HuNS-1 James Malone HuPT4 Ele Holloway James Malone HuT78 Ele Holloway James Malone J82 Ele Holloway James Malone JAR Ele Holloway James Malone JM1 Ele Holloway James Malone JRT3T35 Ele Holloway James Malone JVM3 Ele Holloway James Malone Jiyoye A Jiyoye is a cell line. A Jiyoye is bearer of a Burkitt's lymphoma. Ele Holloway James Malone Natural Language Generator 8th April 2010 obsolete_K562 1.8 Ele Holloway James Malone duplicate of EFO_0002067 (K562) true KATOIII Ele Holloway James Malone KG1 Ele Holloway James Malone KHOS240S Ele Holloway James Malone KLE Ele Holloway James Malone KPL1 Ele Holloway James Malone KU812 Ele Holloway James Malone KYSE30 Ele Holloway James Malone Kasumi2 Ele Holloway James Malone L428 Ele Holloway James Malone LS1034 Ele Holloway James Malone LS174T Ele Holloway James Malone MC116 Ele Holloway James Malone MCCAR Ele Holloway James Malone MCIXC Ele Holloway James Malone MEC1 Ele Holloway James Malone MEG01 Ele Holloway James Malone MESSA Ele Holloway James Malone MG63 Ele Holloway James Malone MHHPREB1 Ele Holloway James Malone MIA Paca-2 Ele Holloway James Malone MJ Ele Holloway James Malone ML2 Ele Holloway James Malone MOLT16 Ele Holloway James Malone obsolete_MOLT4 1.8 James Malone duplicate of EFO_0001220 true MT3 Ele Holloway James Malone MV4II Ele Holloway James Malone Malme3M Ele Holloway James Malone NALM1 Ele Holloway James Malone NALM6 Ele Holloway James Malone NAMALWA Ele Holloway James Malone NC37 Ele Holloway James Malone NCI-H1048 Ele Holloway James Malone NCI-H1092 Ele Holloway James Malone NCI-H1155 Ele Holloway James Malone NCI-H1355 Ele Holloway James Malone NCI-H1395 Ele Holloway James Malone NCI-H1436 Ele Holloway James Malone NCI-H1437 Ele Holloway James Malone NCI-H1563 Ele Holloway James Malone NCI-H1573 Ele Holloway James Malone NCI-H1581 Ele Holloway James Malone NCI-H1618 Ele Holloway James Malone NCI-H1623 Ele Holloway James Malone NCI-H1650 Ele Holloway James Malone NCI-H1651 Ele Holloway James Malone NCI-H1666 Ele Holloway James Malone NCI-H1694 Ele Holloway James Malone NCI-H1703 Ele Holloway James Malone NCI-H1770 Ele Holloway James Malone NCI-H1792 Ele Holloway James Malone NCI-H1793 Ele Holloway James Malone NCI-H1838 Ele Holloway James Malone NCI-H187 Ele Holloway James Malone NCI-H1930 Ele Holloway James Malone NCI-H1975 Ele Holloway James Malone NCI-H1993 Ele Holloway James Malone NCI-H2009 Ele Holloway James Malone NCI-H2030 Ele Holloway James Malone NCI-H2052 Ele Holloway James Malone NCI-H2081 Ele Holloway James Malone NCI-H2087 Ele Holloway James Malone NCI-H2107 Ele Holloway James Malone NCI-H2122 Ele Holloway James Malone NCI-H2126 Ele Holloway James Malone NCI-H2170 Ele Holloway James Malone NCI-H2171 Ele Holloway James Malone NCI-H2195 Ele Holloway James Malone NCI-H2228 Ele Holloway James Malone NCI-H226 Ele Holloway James Malone NCI-H23 Ele Holloway James Malone NCI-H2347 Ele Holloway James Malone NCI-H2405 Ele Holloway James Malone NCI-H295R Ele Holloway James Malone NCI-H322 Ele Holloway James Malone NCI-H358 Ele Holloway James Malone NCI-H441 Ele Holloway James Malone NCI-H446 Ele Holloway James Malone NCI-H508 Ele Holloway James Malone NCI-H522 Ele Holloway James Malone NCI-H524 Ele Holloway James Malone NCI-H630 Ele Holloway James Malone NCI-H650 Ele Holloway James Malone NCI-H661 Ele Holloway James Malone NCI-H69 Ele Holloway James Malone NCI-H716 Ele Holloway James Malone NCI-H720 Ele Holloway James Malone NCI-H747 Ele Holloway James Malone NCI-H748 Ele Holloway James Malone NCI-H810 Ele Holloway James Malone NCI-H82 Ele Holloway James Malone NCI-H838 Ele Holloway James Malone OE19 Ele Holloway James Malone OE21 Ele Holloway James Malone OE33 Ele Holloway James Malone OV90 Ele Holloway James Malone P3HR1 Ele Holloway James Malone PLB985 Ele Holloway James Malone RCHACV Ele Holloway James Malone RD Ele Holloway James Malone RDES Ele Holloway James Malone REC1 Ele Holloway James Malone RKOE6 Ele Holloway James Malone RL Ele Holloway James Malone RL952 Ele Holloway James Malone RPMI6666 Ele Holloway James Malone RPMI8226 Ele Holloway James Malone RWPE1 Ele Holloway James Malone Raji Ele Holloway James Malone SCaBER Ele Holloway James Malone SEM Ele Holloway James Malone SH4 Ele Holloway James Malone SHP77 Ele Holloway James Malone SJRH30 Ele Holloway James Malone SJSA1 Ele Holloway James Malone SKLMS1 Ele Holloway James Malone SKMEL1 Ele Holloway James Malone SKMEL3 Ele Holloway James Malone SKMES1 Ele Holloway James Malone obsolete_SKNAS 2.2 Ele Holloway James Malone duplicate of EFO_0002859 true SKNDZ Ele Holloway James Malone SKNEP1 Ele Holloway James Malone SKNEP1 is a human kidney cell line derived from a patient with Nephroblastoma. SKNFI Ele Holloway James Malone SKO007 Ele Holloway James Malone SKOV3 Ele Holloway James Malone SKUT1 Ele Holloway James Malone SNB19 Ele Holloway James Malone MCC:0000434 SNB-19 Tomasz Adamusiak SNU1 Ele Holloway James Malone SNU16 Ele Holloway James Malone SNU182 Ele Holloway James Malone SNU387 Ele Holloway James Malone SNU398 Ele Holloway James Malone SNU423 Ele Holloway James Malone SNU449 Ele Holloway James Malone SNU475 Ele Holloway James Malone SNU5 Ele Holloway James Malone SR Ele Holloway James Malone ST486 Ele Holloway James Malone SUDHL10 Ele Holloway James Malone SUDHL16 Ele Holloway James Malone SUDHL5 Ele Holloway James Malone SUDHL6 Ele Holloway James Malone SW1088 Ele Holloway James Malone SW1116 Ele Holloway James Malone SW1353 Ele Holloway James Malone SW1417 Ele Holloway James Malone SW1463 Ele Holloway James Malone SW1573 Ele Holloway James Malone SW1783 Ele Holloway James Malone SW1990 Ele Holloway James Malone SW403 Ele Holloway James Malone SW48 Ele Holloway James Malone SW620 Ele Holloway James Malone SW684 Ele Holloway James Malone SW756 Ele Holloway James Malone SW780 Ele Holloway James Malone SW837 Ele Holloway James Malone SW872 Ele Holloway James Malone SW900 Ele Holloway James Malone SW948 Ele Holloway James Malone SW954 Ele Holloway James Malone SW962 Ele Holloway James Malone SW982 Ele Holloway James Malone SiHa Ele Holloway James Malone TANOUE Ele Holloway James Malone obsolete_THP1 1.8 James Malone duplicate of EFO_0001253 true TT Ele Holloway James Malone Toledo Ele Holloway James Malone U266B1 Ele Holloway James Malone UACC893 Ele Holloway James Malone UMC11 Ele Holloway James Malone UMUC3 Ele Holloway James Malone WIDR Ele Holloway James Malone WM115 Ele Holloway James Malone obsolete_Wi38 1.8 Duplicate use EFO_0001260 Ele Holloway James Malone true http://www.ebi.ac.uk/efo/EFO_0002388 Y79 Ele Holloway James Malone YPAC Ele Holloway James Malone ovarian cancer cell lines benign neoplasm BENIGN NEOPL Benign Neoplasm Benign Neoplasms James Malone NEOPL BENIGN Neoplasm, Benign Neoplasms, Benign Tomasz Adamusiak benign tumor osteoma James Malone Tomasz Adamusiak fibroma neoplasm of immature B and T cells James Malone T-cell neoplasm Tomasz Adamusiak neoplasm of mature T-cells or NK-cells James Malone Tomasz Adamusiak peripheral T-cell or NK-cell neoplasm myeloid neoplasm chronic myeloproliferative disorder James Malone Tomasz Adamusiak polycythemia vera James Malone OMIM:263300 Tomasz Adamusiak primary myelofibrosis James Malone Tomasz Adamusiak tumour of cranial and spinal nerves A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths. A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.[accessedResource: NCIt:C3321][accessDate: 05-04-2011] James Malone MSH:D010524 NCIt:C3321 Neoplasm of PNS Neoplasm of PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Neoplasm of Peripheral Nerve Neoplasm of Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Neoplasm of Peripheral Nervous System Neoplasm of Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Neoplasm of the PNS Neoplasm of the PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Neoplasm of the Peripheral Nerve Neoplasm of the Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Neoplasm of the Peripheral Nervous System Neoplasm of the Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Neoplasm, Peripheral Nerve Neoplasm, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011] Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1) Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)[accessedResource: MSH:D010524][accessDate: 05-04-2011] Neoplasms, PNS Neoplasms, PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Neoplasms, Peripheral Nerve Neoplasms, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011] Neoplasms, Peripheral Nervous System Neoplasms, Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Nerve Neoplasm, Peripheral Nerve Neoplasm, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011] Nerve Neoplasms, Peripheral Nerve Neoplasms, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011] Nerve Tumor, Peripheral Nerve Tumor, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011] Nerve Tumors, Peripheral Nerve Tumors, Peripheral[accessedResource: MSH:D010524][accessDate: 05-04-2011] PERIPHERAL NERVE NEOPL PERIPHERAL NERVE NEOPL BENIGN PERIPHERAL NERVE NEOPL BENIGN[accessedResource: MSH:D010524][accessDate: 05-04-2011] PERIPHERAL NERVE NEOPL INFILTRATION PERIPHERAL NERVE NEOPL INFILTRATION[accessedResource: MSH:D010524][accessDate: 05-04-2011] PERIPHERAL NERVE NEOPL MALIGNANT PERIPHERAL NERVE NEOPL MALIGNANT[accessedResource: MSH:D010524][accessDate: 05-04-2011] PERIPHERAL NERVE NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011] PNS BENIGN NEOPL PNS BENIGN NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011] PNS MALIGNANT NEOPL PNS MALIGNANT NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011] PNS NEOPL PNS NEOPL[accessedResource: MSH:D010524][accessDate: 05-04-2011] PNS Neoplasm PNS Neoplasm[accessedResource: NCIt:C3321][accessDate: 05-04-2011] PNS Neoplasms PNS Neoplasms[accessedResource: NCIt:C3321][accessDate: 05-04-2011] PNS Tumor PNS Tumor[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Peripheral Nerve Neoplasm Peripheral Nerve Neoplasm[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Peripheral Nerve Neoplasms Peripheral Nerve Neoplasms, Benign Peripheral Nerve Neoplasms, Benign[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nerve Neoplasms, Malignant Peripheral Nerve Neoplasms, Malignant[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nerve Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nerve Neoplastic Infiltration Peripheral Nerve Neoplastic Infiltration[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nerve Tumor Peripheral Nerve Tumor[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Peripheral Nerve Tumors Peripheral Nerve Tumors[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nervous System Benign Neoplasms Peripheral Nervous System Benign Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nervous System Malignant Neoplasms Peripheral Nervous System Malignant Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nervous System Neoplasm Peripheral Nervous System Neoplasm[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Peripheral Nervous System Neoplasms Peripheral Nervous System Neoplasms[accessedResource: MSH:D010524][accessDate: 05-04-2011] Peripheral Nervous System Tumor Peripheral Nervous System Tumor[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Tomasz Adamusiak Tumor of PNS Tumor of PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Tumor of Peripheral Nerve Tumor of Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Tumor of Peripheral Nervous System Tumor of Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Tumor of the PNS Tumor of the PNS[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Tumor of the Peripheral Nerve Tumor of the Peripheral Nerve[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Tumor of the Peripheral Nervous System Tumor of the Peripheral Nervous System[accessedResource: NCIt:C3321][accessDate: 05-04-2011] Tumor, Peripheral Nerve Tumor, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011] Tumors, Peripheral Nerve Tumors, Peripheral Nerve[accessedResource: MSH:D010524][accessDate: 05-04-2011] peripheral nervous system cancer cumulus-oocyte complex Tomasz Adamusiak http://en.wikipedia.org/wiki/Ovulation mesophyll cell PO:0004006 Tomasz Adamusiak HUVEC cell A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages. A convenient source of human endothelial cells are those that line the large vein in the umbilical cord which is usually discarded together with the placenta after childbirth. The cells can be removed as a fairly pure suspension by mild enzymatic treatment of the vein followed by some mechanical distraction and will grow relatively easily in culture, retaining their differentiated characteristics for several passages.[accessedResource: BTO:0001949][accessDate: 05-04-2011] BTO:0001949 HUVEC Tomasz Adamusiak human umbilical vein endothelial cell hippocampus CA1 MA:0000950 Tomasz Adamusiak birn_anat:birnlex_1197 hippocampus CA2 MA:0000951 Tomasz Adamusiak birn_anat:birnlex_1362 hippocampus CA3 MA:0000952 Tomasz Adamusiak birn_anat:birnlex_1204 hippocampus CA4 MA:0000953 Tomasz Adamusiak http://neurolex.org/wiki/Category:Hilus_of_dentate_gyrus nucleus accumbens core Core region of nucleus accumbens Core region of nucleus accumbens[accessedResource: FMAID:77383][accessDate: 05-04-2011] FMAID:77383 Tomasz Adamusiak birn_anat:nlx_anat_20090306 nucleus accumbens shell FMAID:77387 Shell region of nucleus accumbens Shell region of nucleus accumbens[accessedResource: FMAID:77387][accessDate: 05-04-2011] Tomasz Adamusiak birn_anat:nlx_anat_20090307 hypertrophy Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. James Malone skeletal system disease Any disease which affects part of the skeletal system. James Malone foetal structure obsolete_geniculate nucleus Geniculate nucleus (body structure) Geniculate nucleus (body structure)[accessedResource: SNOMEDCT:279108008][accessDate: 05-04-2011] James Malone SNOMEDCT:279108008 Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0001700 label: geniculate ganglion 2.38 true obsolete_hair follicle EV:0100156 Ele Holloway James Malone MA:0000154 Use http://purl.obolibrary.org/obo/UBERON_0002073 label: hair follicle 2.38 true obsolete_inferior colliculus Ele Holloway James Malone MA:0001067 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001946 label: inferior colliculus obsolete_middle temporal gyrus Ele Holloway FMA:61906 Intermediate temporal gyrus Intermediate temporal gyrus[accessedResource: FMA:61906][accessDate: 05-04-2011] James Malone true Use http://purl.obolibrary.org/obo/UBERON_0002771 label: middle temporal gyrus 2.38 motor cortex James Malone obsolete_oculomotor nucleus EV:0100250 Ele Holloway FMA:54510 James Malone Nucleus of oculomotor nerve Nucleus of oculomotor nerve[accessedResource: FMA:54510][accessDate: 05-04-2011] Nucleus of third cranial nerve Nucleus of third cranial nerve[accessedResource: FMA:54510][accessDate: 05-04-2011] Oculomotor nuclear complex Oculomotor nuclear complex[accessedResource: FMA:54510][accessDate: 05-04-2011] Third cranial nerve nucleus Third cranial nerve nucleus[accessedResource: FMA:54510][accessDate: 05-04-2011] true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001715 label: oculomotor nuclear complex paraventricular nucleus Ele Holloway James Malone periaqueductal gray posterior cingulate cortex James Malone somatomotor cortex Ele Holloway James Malone primary motor cortex stamen abscission zone James Malone The area of the plant from where the stamen is shed. obsolete_superior colliculus Ele Holloway James Malone MA:0001068 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001945 label: superior colliculus obsolete_suprachiasmatic nucleus Ele Holloway James Malone Use http://purl.obolibrary.org/obo/UBERON_0002034 label: suorachiasmatic nucleus 2.38 true obsolete_supraoptic nucleus Ele Holloway James Malone Use http://purl.obolibrary.org/obo/UBERON_0001929 label: supraoptic nucleus 2.38 true accelerated neurological senescence Ele Holloway James Malone actinic keratosis DOID:8866 Ele Holloway James Malone SK - Solar keratosis SK - Solar keratosis[accessedResource: DOID:8866][accessDate: 05-04-2011] Senile hyperkeratosis Senile hyperkeratosis[accessedResource: DOID:8866][accessDate: 05-04-2011] Solar keratosis Solar keratosis[accessedResource: DOID:8866][accessDate: 05-04-2011] actinic (Solar) Keratosis actinic (Solar) Keratosis[accessedResource: DOID:8866][accessDate: 05-04-2011] actinic keratosis (disorder) actinic keratosis (disorder)[accessedResource: DOID:8866][accessDate: 05-04-2011] actinic keratosis (morphologic abnormality) actinic keratosis (morphologic abnormality)[accessedResource: DOID:8866][accessDate: 05-04-2011] acute hypotension Ele Holloway James Malone aggressive insulitis Ele Holloway James Malone Insulitis is an inflammatory infiltration of the islets of Langerhans found especially in young patients with recent onset type 1 diabetes. http://www.diapedia.org/type-1-diabetes-mellitus/insulitis anaplastic astrocytoma Anaplastic Astrocytoma Anaplastic Astrocytomas Astrocytoma, Anaplastic Astrocytomas, Anaplastic DOID:3078 Ele Holloway James Malone astrocytoma, anaplastic (morphologic abnormality) astrocytoma, anaplastic (morphologic abnormality)[accessedResource: DOID:3078][accessDate: 05-04-2011] grade III Astrocytic tumor grade III Astrocytic tumor[accessedResource: DOID:3078][accessDate: 05-04-2011] anaplastic oligoastrocytoma DOID:7306 Ele Holloway James Malone WHO grade III mixed glioma WHO grade III mixed glioma[accessedResource: DOID:7306][accessDate: 05-04-2011] anaplastic oligoastrocytoma (morphologic abnormality) anaplastic oligoastrocytoma (morphologic abnormality)[accessedResource: DOID:7306][accessDate: 05-04-2011] anaplastic oligodendroglioma Anaplastic Oligodendroglioma Anaplastic Oligodendrogliomas DOID:7154 Ele Holloway James Malone Oligodendroglioma, Anaplastic Oligodendroglioma, anaplastic (morphologic abnormality) Oligodendroglioma, anaplastic (morphologic abnormality)[accessedResource: DOID:7154][accessDate: 05-04-2011] Oligodendrogliomas, Anaplastic Undifferentiated Oligodendroglioma Undifferentiated Oligodendroglioma[accessedResource: DOID:7154][accessDate: 05-04-2011] benign insulitis http://www.ncbi.nlm.nih.gov/pubmed/20545565 Benign insulitis describes the process of benign autoreactive T cells infiltrating islets of langerhans, prior to destructive insulitis. Helen Parkinson cardiac hypertrophy Ele Holloway James Malone MP:0001625 MSH:D006332 an increase in size of the cardiac tissue, not due to increased cell number an increase in size of the cardiac tissue, not due to increased cell number[accessedResource: MP:0001625][accessDate: 05-04-2011] cardiomegaly enlarged heart heart hypertrophy myocardial hypertrophy true serous cystadenoma DOID:2631 Ele Holloway James Malone serous Cystoma serous Cystoma[accessedResource: DOID:2631][accessDate: 05-04-2011] serous cystadenoma NOS (morphologic abnormality) serous cystadenoma NOS (morphologic abnormality)[accessedResource: DOID:2631][accessDate: 05-04-2011] serous microcystic adenoma serous microcystic adenoma[accessedResource: DOID:2631][accessDate: 05-04-2011] obsolete_multiple system atrophy A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord (MeSH). A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord (MeSH).[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011] DOID:4752 Ele Holloway James Malone Multiple System Atrophy Syndrome Multiple System Atrophy Syndrome[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011] Multiple system atrophy (disorder) Multiple system atrophy (disorder)[accessedResource: DOID:4752][accessDate: 05-04-2011] Multisystem Atrophy Multisystem Atrophy[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011] Multisystemic Atrophy Multisystemic Atrophy[accessedResource: NIFSTD:birnlex_12573][accessDate: 05-04-2011] NIFSTD:birnlex_12573 Shy-Drager syndrome Shy-Drager syndrome[accessedResource: DOID:4752][accessDate: 05-04-2011] Tomasz Adamusiak 2.32 use 'http://www.orphanet.org/rdfns#pat_id_8744' instead. New Label : Multiple system atrophy true osteoarthritis A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.[accessedResource: MSH:D010003][accessDate: 05-04-2011] Arthritides, Degenerative Arthritides, Degenerative[accessedResource: MSH:D010003][accessDate: 05-04-2011] Arthritis, Degenerative Arthritis, Degenerative[accessedResource: MSH:D010003][accessDate: 05-04-2011] Degenerative Arthritides Degenerative Arthritides[accessedResource: MSH:D010003][accessDate: 05-04-2011] Degenerative Arthritis Degenerative Arthritis[accessedResource: MSH:D010003][accessDate: 05-04-2011] EV:0400132 Ele Holloway HP:0002758 James Malone MSH:D010003 OMIM:165720 Osteoarthritides Osteoarthritides[accessedResource: MSH:D010003][accessDate: 05-04-2011] Osteoarthroses Osteoarthroses[accessedResource: MSH:D010003][accessDate: 05-04-2011] Osteoarthrosis Osteoarthrosis Deformans Osteoarthrosis Deformans[accessedResource: MSH:D010003][accessDate: 05-04-2011] Osteoarthrosis[accessedResource: MSH:D010003][accessDate: 05-04-2011] Tomasz Adamusiak true ovarian adenoma benign Ele Holloway James Malone Parkinson's disease A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions. A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.[accessedResource: DOID:14330][accessDate: 05-04-2011] A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75) A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)[accessedResource: MSH:D010300][accessDate: 05-04-2011] DOID:14330 Ele Holloway IDIOPATHIC PARKINSON DIS IDIOPATHIC PARKINSON DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011] IDIOPATHIC PARKINSONS DIS IDIOPATHIC PARKINSONS DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011] Idiopathic PD Idiopathic PD[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Idiopathic Parkinson Disease Idiopathic Parkinson Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011] Idiopathic Parkinson's Disease Idiopathic Parkinson's Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011] James Malone LEWY BODY PARKINSON DIS LEWY BODY PARKINSON DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011] Lewy Body Parkinson Disease Lewy Body Parkinson Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011] Lewy Body Parkinson's Disease Lewy Body Parkinson's Disease[accessedResource: MSH:D010300][accessDate: 05-04-2011] MSH:D010300 NIFSTD:birnlex_2098 PARKINSON DIS PARKINSON DIS IDIOPATHIC PARKINSON DIS IDIOPATHIC[accessedResource: MSH:D010300][accessDate: 05-04-2011] PARKINSON DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011] PARKINSONS DIS PARKINSONS DIS IDIOPATHIC PARKINSONS DIS IDIOPATHIC[accessedResource: MSH:D010300][accessDate: 05-04-2011] PARKINSONS DIS LEWY BODY PARKINSONS DIS LEWY BODY[accessedResource: MSH:D010300][accessDate: 05-04-2011] PARKINSONS DIS[accessedResource: MSH:D010300][accessDate: 05-04-2011] Paralysis Agitans[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Paralysis agitans Parkinson Disease, Idiopathic Parkinson Disease, Idiopathic[accessedResource: MSH:D010300][accessDate: 05-04-2011] Parkinson disease Parkinson disease[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Parkinson syndrome Parkinson syndrome[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Parkinson's Parkinson's Disease, Idiopathic Parkinson's Disease, Idiopathic[accessedResource: MSH:D010300][accessDate: 05-04-2011] Parkinson's Disease, Lewy Body Parkinson's Disease, Lewy Body[accessedResource: MSH:D010300][accessDate: 05-04-2011] Parkinson's disease (disorder) Parkinson's disease (disorder)[accessedResource: DOID:14330][accessDate: 05-04-2011] Parkinson's disease NOS Parkinson's disease NOS (disorder) Parkinson's disease NOS (disorder)[accessedResource: DOID:14330][accessDate: 05-04-2011] Parkinson's disease NOS[accessedResource: DOID:14330][accessDate: 05-04-2011] Parkinson's syndrome Parkinson's syndrome[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Parkinson's[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Parkinsonian disorder Parkinsonian disorder[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Parkinsonism, Primary Parkinsonism, Primary[accessedResource: MSH:D010300][accessDate: 05-04-2011] Parkinsons Parkinsons disease Parkinsons disease[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Parkinsons[accessedResource: NIFSTD:birnlex_2098][accessDate: 05-04-2011] Primary Parkinsonism Primary Parkinsonism[accessedResource: MSH:D010300][accessDate: 05-04-2011] Tomasz Adamusiak true progressive external ophthalmoplegia DOID:12558 Ele Holloway HP:0000590 James Malone PEO PEO syndrome Progressive external ophthalmoplegia (disorder) chronic progressive external ophthalmoplegia chronic progressive external ophthalmoplegia [Ambiguous] chronic progressive external ophthalmoplegia [Ambiguous][accessedResource: DOID:12558][accessDate: 05-04-2011] chronic progressive external ophthalmoplegia[accessedResource: DOID:12558][accessDate: 05-04-2011] progressive external ophthalmoplegia (disorder)[accessedResource: DOID:12558][accessDate: 05-04-2011] serous cystadenofibroma DOID:7320 Ele Holloway James Malone ovarian serous cystadenofibroma ovarian serous cystadenofibroma[accessedResource: DOID:7320][accessDate: 05-04-2011] simple cystadenoma Ele Holloway James Malone obsolete_supranuclear palsy, progressive A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH). A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH).[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] DOID:678 Ele Holloway James Malone MSH:D013494 NIFSTD:birnlex_12697 OMIM:601104 Progressive Supranuclear Ophthalmoplegia[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] Progressive Supranuclear Palsy Steele-Richardson-Olszewski Disease Steele-Richardson-Olszewski Disease[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] Steele-Richardson-Olszewski Syndrome Steele-Richardson-Olszewski Syndrome[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] Tomasz Adamusiak duplicate of class http://www.orphanet.org/rdfns#pat_id_846 progressive supranuclear ophthalmoplegia progressive supranuclear ophthalmoplegia (disorder) progressive supranuclear ophthalmoplegia (disorder)[accessedResource: DOID:678][accessDate: 05-04-2011] progressive supranuclear palsy[accessedResource: DOID:678][accessDate: 05-04-2011] true true 2.33 obsolete_alveolus Alveoli Alveoli[accessedResource: C12986][accessDate: 05-04-2011] Any of the terminal sacs in the lungs through which gas exchange takes place with the pulmonary capillary blood. Any of the terminal sacs in the lungs through which gas exchange takes place with the pulmonary capillary blood.[accessedResource: C12986][accessDate: 05-04-2011] Bronchial Alveolus[accessedResource: C12986][accessDate: 05-04-2011] C12986 Ele Holloway James Malone Pulmonary Alveolus[accessedResource: C12986][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0003215 label: alveolus true alveolus of lung corneal stroma Ele Holloway James Malone MA:0001245 obsolete_ductus arteriosus Ele Holloway FMA:79871 HP:0001643 James Malone ductus Botalli 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0005440 label: ductus arteriosus inferior ganglion of vagus nerve Ele Holloway FMA:6230 Ganglion inferius (Nervus vagus) Ganglion inferius (Nervus vagus)[accessedResource: FMA:6230][accessDate: 05-04-2011] Inferior ganglion of vagus Inferior ganglion of vagus[accessedResource: FMA:6230][accessDate: 05-04-2011] James Malone Nodose ganglion Nodose ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011] Tenth cranial nerve nodose ganglion Tenth cranial nerve nodose ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011] Vagus nerve inferior ganglion Vagus nerve inferior ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011] Vagus nerve nodose ganglion Vagus nerve nodose ganglion[accessedResource: FMA:6230][accessDate: 05-04-2011] pancreatic ductal adenocarcinoma DOID:3587 Ele Holloway James Malone pancreatic ductal carcinoma pancreatic ductal carcinoma[accessedResource: DOID:3587][accessDate: 05-04-2011] raphe magnus Ele Holloway James Malone vegetative apex Ele Holloway James Malone neurointermediate lobe Ele Holloway James Malone obsolete_cerebral hemisphere BTO:0000231 Either of the two hollow convoluted lateral halves of the cerebrum. Either of the two hollow convoluted lateral halves of the cerebrum.[accessedResource: BTO:0000231][accessDate: 05-04-2011] Ele Holloway James Malone Use http://purl.obolibrary.org/obo/UBERON_0001869 label: cerebral hemisphere true 2.38 BTBR mouse BTBR BTBR[accessedResource: NCIt:C37364][accessDate: 05-04-2011] Jie Zheng NCIt:C37364 Tomasz Adamusiak obsolete_preoptic area Jie Zheng Tomasz Adamusiak birn_anat:birnlex_1706 true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001928 label: preoptic area obsolete_abdominal aorta Abdominal part of aorta Abdominal part of aorta[accessedResource: FMAID:3789][accessDate: 05-04-2011] Descending abdominal aorta Descending abdominal aorta[accessedResource: FMAID:3789][accessDate: 05-04-2011] FMAID:3789 Jie Zheng MSH:D001012 Pars abdominalis aortae Pars abdominalis aortae[accessedResource: FMAID:3789][accessDate: 05-04-2011] Tomasz Adamusiak aorta, abdominal true 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001516 label: abdominal aorta obsolete_thoracic aorta FMAID:3786 Jie Zheng Thoracic part of aorta Thoracic part of aorta[accessedResource: FMAID:3786][accessDate: 05-04-2011] Tomasz Adamusiak true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001515 label: thoracic aorta obsolete_descending thoracic aorta FMAID:87217 Jie Zheng Tomasz Adamusiak true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002345 label: descending thoracic aorta substantia nigra and ventral tegmental area Jie Zheng Tomasz Adamusiak INS-1 BTO:0002135 INS-1 cell INS-1 cell[accessedResource: BTO:0002135][accessDate: 05-04-2011] Jie Zheng MCC:0000246 Pancreatic beta -cell line of rat origin. Pancreatic beta -cell line of rat origin.[accessedResource: BTO:0002135][accessDate: 05-04-2011] Tomasz Adamusiak fetal blood cell Blood (fetal) (MMHCC) Blood (fetal) (MMHCC)[accessedResource: NCIt:C22560][accessDate: 05-04-2011] Fetal Blood Fetal Blood[accessedResource: NCIt:C22560][accessDate: 05-04-2011] Jie Zheng NCIt:C22560 Tomasz Adamusiak nestin positive islet-derived progenitor cell Jie Zheng PMID: 11246871 Tomasz Adamusiak islet cell A pancreatic cell that produces and secretes hormones such as insulin and glucagon. A pancreatic cell that produces and secretes hormones such as insulin and glucagon.[accessedResource: NCIt:C32885][accessDate: 05-04-2011] An Islet cell is a pancreatic cell that produces and secretes hormones such as insulin and glucagon. Jie Zheng NCIt:C32885 Tomasz Adamusiak endocrine pancreas cell endocrine pancreas cell[accessedResource: NCIt:C32885][accessDate: 05-04-2011] mouse prenatal Jie Zheng NIFSTD:birnlex_484 Tomasz Adamusiak birnlex_484 plasmodium parasite stage IDOMAL:0000296 Jie Zheng The distinct stages of the life cycle of a protozoon of the genus Plasmodium. The distinct stages of the life cycle of a protozoon of the genus Plasmodium.[accessedResource: IDOMAL:0000296][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_endoderm A germ layer lying remote from the surface of the embryo that gives rise to internal tissues such as gut. A germ layer lying remote from the surface of the embryo that gives rise to internal tissues such as gut.[accessedResource: BTO:0000800][accessDate: 05-04-2011] BTO:0000800 FMAID:69071 Jie Zheng Tomasz Adamusiak true Use http://purl.obolibrary.org/obo/UBERON_0000925 label: endoderm 2.38 abnormal glucose tolerance HP:0001952 Jie Zheng Tomasz Adamusiak NOD mouse Jie Zheng NCIt:C37417 NOD NOD[accessedResource: NCIt:C37417][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_endothelium A layer of epithelium that lines the heart, blood vessels (ENDOTHELIUM, VASCULAR), lymph vessels (ENDOTHELIUM, LYMPHATIC), and the serous cavities of the body. A layer of epithelium that lines the heart, blood vessels (ENDOTHELIUM, VASCULAR), lymph vessels (ENDOTHELIUM, LYMPHATIC), and the serous cavities of the body.[accessedResource: MSH:D004727][accessDate: 05-04-2011] Capillary Endothelium Capillary Endothelium[accessedResource: MSH:D004730][accessDate: 05-04-2011] Capillary Endotheliums Capillary Endotheliums[accessedResource: MSH:D004730][accessDate: 05-04-2011] Endothelium, Capillary Endothelium, Capillary[accessedResource: MSH:D004730][accessDate: 05-04-2011] Endothelium, Vascular Endothelium, Vascular[accessedResource: MSH:D004730][accessDate: 05-04-2011] Endotheliums Endotheliums, Capillary Endotheliums, Capillary[accessedResource: MSH:D004730][accessDate: 05-04-2011] Endotheliums, Vascular Endotheliums, Vascular[accessedResource: MSH:D004730][accessDate: 05-04-2011] Endotheliums[accessedResource: MSH:D004727][accessDate: 05-04-2011] Jie Zheng MA:0000717 MSH:D004727 MSH:D004730 Single pavement layer of cells which line the luminal surface of the entire vascular system and regulate the transport of macromolecules and blood components from interstitium to lumen; this function has been most intensively studied in the blood capillaries. Single pavement layer of cells which line the luminal surface of the entire vascular system and regulate the transport of macromolecules and blood components from interstitium to lumen; this function has been most intensively studied in the blood capillaries.[accessedResource: MSH:D004730][accessDate: 05-04-2011] Tomasz Adamusiak Vascular Endothelium Vascular Endothelium[accessedResource: MSH:D004730][accessDate: 05-04-2011] Vascular Endotheliums Vascular Endotheliums[accessedResource: MSH:D004730][accessDate: 05-04-2011] cardiovascular system endothelium true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001986 label: endothelium obsolete_vagus nerve Cranial Nerve X Cranial Nerve X[accessedResource: NCIt:C12812][accessDate: 05-04-2011] Jie Zheng NCIt:C12812 Pneumogastric Nerve Pneumogastric Nerve[accessedResource: NCIt:C12812][accessDate: 05-04-2011] Tenth Cranial Nerve Tenth Cranial Nerve[accessedResource: NCIt:C12812][accessDate: 05-04-2011] Tomasz Adamusiak 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001759 label: vagus nerve true obsolete_brachiocephalic artery Brachiocephalic trunk Brachiocephalic trunk[accessedResource: FMAID:3932][accessDate: 05-04-2011] FMAID:3932 Innominate artery Innominate artery[accessedResource: FMAID:3932][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001529 label: brachiocephalic artery obsolete_coronary artery A principal artery that originates in the aorta. It supplies blood to the muscular tissue of the heart. A principal artery that originates in the aorta. It supplies blood to the muscular tissue of the heart.[accessedResource: NCIt:C12843][accessDate: 05-04-2011] Jie Zheng NCIt:C12843 Tomasz Adamusiak 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0001621 label: coronary artery obsolete_renal artery Jie Zheng NCIt:C12778 Tomasz Adamusiak Use: http://purl.obolibrary.org/obo/UBERON_0001184 label: renal artery 2.38 true obsolete_tongue mucosa FMAID:54807 Jie Zheng Lingual mucosa Lingual mucosa[accessedResource: FMAID:54807][accessDate: 05-04-2011] Mucosa of tongue Mucosa of tongue[accessedResource: FMAID:54807][accessDate: 05-04-2011] Mucous membrane of tongue Mucous membrane of tongue[accessedResource: FMAID:54807][accessDate: 05-04-2011] Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0005020 label: mucosa of tongue true 2.38 obsolete_gastric fundus FMAID:14559 Fundus gastricus (ventricularis) Fundus gastricus (ventricularis)[accessedResource: FMAID:14559][accessDate: 05-04-2011] Fundus of stomach Fundus of stomach[accessedResource: FMAID:14559][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001160 label: fundus of stomach true obsolete_pyloric antrum Antrum Pylori Antrum Pylori[accessedResource: NCIt:C12259][accessDate: 05-04-2011] Gastric Antrum Gastric Antrum[accessedResource: NCIt:C12259][accessDate: 05-04-2011] Jie Zheng NCIt:C12259 The initial part of the pyloric canal of the stomach. This site contains endocrine cells that produce gastrin and somatostatin. The initial part of the pyloric canal of the stomach. This site contains endocrine cells that produce gastrin and somatostatin.[accessedResource: NCIt:C12259][accessDate: 05-04-2011] Tomasz Adamusiak true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001165 label: pyloric antrum pancreatic duct epithelium Epithelium of pancreatic duct Epithelium of pancreatic duct[accessedResource: FMAID:67681][accessDate: 05-04-2011] FMAID:67681 Jie Zheng Pancreatic ductal epithelium Pancreatic ductal epithelium[accessedResource: FMAID:67681][accessDate: 05-04-2011] Tomasz Adamusiak pancreatic mesenchyme Jie Zheng Tomasz Adamusiak obsolete_parotid gland Jie Zheng NCIt:C12427 Parotid Parotid[accessedResource: NCIt:C12427][accessDate: 05-04-2011] The largest of the three paired salivary glands, located in front of the ear. The largest of the three paired salivary glands, located in front of the ear.[accessedResource: NCIt:C12427][accessDate: 05-04-2011] Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0001831 label: parotid gland true 2.38 obsolete_ciliary ganglion FMAID:6964 Jie Zheng Tomasz Adamusiak true Use http://purl.obolibrary.org/obo/UBERON_0002058 label: ciliary ganglion 2.38 gastrula 80%-epiboly Jie Zheng Tomasz Adamusiak embryonic day 8.25 Jie Zheng Tomasz Adamusiak embryonic day 11.5 Jie Zheng Tomasz Adamusiak embryonic day 12.5 Jie Zheng Tomasz Adamusiak embryonic day 13.5 Jie Zheng Tomasz Adamusiak embryonic day 14.5 Jie Zheng Tomasz Adamusiak embryonic day 15.5 Jie Zheng Tomasz Adamusiak embryonic day 16.5 Jie Zheng Tomasz Adamusiak embryonic day 17.5 Jie Zheng Tomasz Adamusiak embryonic day 18 Jie Zheng Tomasz Adamusiak embryonic day 18.5 Jie Zheng Tomasz Adamusiak medical procedure An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects. An activity that produces an effect, or that is intended to alter the course of a disease in a patient or population. This is a general term that encompasses the medical, social, behavioral, and environmental acts that can have preventive, therapeutic, or palliative effects.[accessedResource: NCIt:C25218][accessDate: 05-04-2011] Intervention Intervention Strategies Intervention Strategies[accessedResource: NCIt:C25218][accessDate: 05-04-2011] Intervention or Procedure Intervention or Procedure[accessedResource: NCIt:C25218][accessDate: 05-04-2011] Intervention[accessedResource: NCIt:C25218][accessDate: 05-04-2011] Interventional Interventional[accessedResource: NCIt:C25218][accessDate: 05-04-2011] Jie Zheng NCIt:C25218 Procedure Procedure[accessedResource: NCIt:C25218][accessDate: 05-04-2011] SURGICAL AND MEDICAL PROCEDURES SURGICAL AND MEDICAL PROCEDURES[accessedResource: NCIt:C25218][accessDate: 05-04-2011] Tomasz Adamusiak interventionDescription interventionDescription[accessedResource: NCIt:C25218][accessDate: 05-04-2011] large adipocyte Jie Zheng Tomasz Adamusiak small adipocyte Jie Zheng Tomasz Adamusiak obsolete_definitive endoderm Embryonic endoderm Embryonic endoderm[accessedResource: FMAID:85519][accessDate: 05-04-2011] FMAID:85519 Jie Zheng Tomasz Adamusiak 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0005439 label: definitive endoderm esophageal endoderm Jie Zheng Tomasz Adamusiak intestinal endoderm Jie Zheng Tomasz Adamusiak liver endoderm Jie Zheng Tomasz Adamusiak lung endoderm Jie Zheng Tomasz Adamusiak pancreatic endoderm Jie Zheng Tomasz Adamusiak stomach endoderm Jie Zheng Tomasz Adamusiak pancreatectomy Excision of the Pancreas Excision of the Pancreas[accessedResource: NCIt:C15294][accessDate: 05-04-2011] Jie Zheng NCIt:C15294 Pancreas Excision Pancreas Excision[accessedResource: NCIt:C15294][accessDate: 05-04-2011] Surgical removal of part or all of the pancreas. Surgical removal of part or all of the pancreas.[accessedResource: NCIt:C15294][accessDate: 05-04-2011] Tomasz Adamusiak Theiler stage 11 Jie Zheng Theiler Stage 11a Theiler Stage 11a[accessedResource: birnlex_7062][accessDate: 05-04-2011] Tomasz Adamusiak birnlex_7062 Theiler stage 17 Jie Zheng Tomasz Adamusiak birnlex_7072 Theiler stage 21 Jie Zheng Tomasz Adamusiak birnlex_7076 Theiler stage 22 Jie Zheng Tomasz Adamusiak birnlex_7077 Theiler stage 24 Jie Zheng Tomasz Adamusiak birnlex_7079 Theiler stage 26 Jie Zheng Tomasz Adamusiak birnlex_7081 Theiler stage 28 Jie Zheng Tomasz Adamusiak birnlex_7083 Theiler stage 28 is a mouse postnatal stage characterised by postnatal development after a mouse is newly born. hepatic schizont A schizont produced in the liver of the vertebrate host. A schizont produced in the liver of the vertebrate host.[accessedResource: IDOMAL:0000322][accessDate: 05-04-2011] IDOMAL:0000322 Jie Zheng Tomasz Adamusiak hepatic schizont stage hepatic schizont stage[accessedResource: IDOMAL:0000322][accessDate: 05-04-2011] ring stage trophozoite A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed. A developmental stage of the Plasmodium life cycle found within the erythrocyte, called such because of the shape observed.[accessedResource: IDOMAL:0000321][accessDate: 05-04-2011] IDOMAL:0000321 Jie Zheng Tomasz Adamusiak ring trophozoite stage ring trophozoite stage[accessedResource: IDOMAL:0000321][accessDate: 05-04-2011] erythrocytic schizont A sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites. IDOMAL:0000306 Jie Zheng The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites. The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites.[accessedResource: IDOMAL:0000306][accessDate: 05-04-2011] Tomasz Adamusiak erythrocytic schizont stage erythrocytic schizont stage[accessedResource: IDOMAL:0000306][accessDate: 05-04-2011] trophozoite A developmental stage of the Plasmodium life cycle found within the erythrocyte. A developmental stage of the Plasmodium life cycle found within the erythrocyte.[accessedResource: IDOMAL:0000304][accessDate: 05-04-2011] IDOMAL:0000304 Jie Zheng Tomasz Adamusiak trophozoite stage trophozoite stage[accessedResource: IDOMAL:0000304][accessDate: 05-04-2011] distal renal artery Jie Zheng Tomasz Adamusiak proximal renal artery Jie Zheng Tomasz Adamusiak renal branch of vagus nerve FMAID:6670 Jie Zheng Tomasz Adamusiak carotid artery endothelium Jie Zheng Tomasz Adamusiak obsolete_aorta endothelium Jie Zheng NCIt:C49190 The layer of cells that lines the lumen of the aorta. The layer of cells that lines the lumen of the aorta.[accessedResource: NCIt:C49190][accessDate: 05-04-2011] Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0004851 label: aorta endothelium 2.38 true distal portion of anterior interventricular branch of left coronary artery Distal portion of anterior descending branch of left coronary artery Distal portion of anterior descending branch of left coronary artery[accessedResource: FMAID:3884][accessDate: 05-04-2011] FMAID:3884 Jie Zheng Tomasz Adamusiak distal portion of circumflex branch of left coronary artery FMAID:3906 Jie Zheng Posterior segment of circumflex branch of left coronary artery Posterior segment of circumflex branch of left coronary artery[accessedResource: FMAID:3906][accessDate: 05-04-2011] Second segment of circumflex branch of left coronary artery Second segment of circumflex branch of left coronary artery[accessedResource: FMAID:3906][accessDate: 05-04-2011] Tomasz Adamusiak distal portion of right coronary artery FMAID:3832 Jie Zheng Posterior segment of right coronary artery Posterior segment of right coronary artery[accessedResource: FMAID:3832][accessDate: 05-04-2011] Second segment of right coronary artery Second segment of right coronary artery[accessedResource: FMAID:3832][accessDate: 05-04-2011] Tomasz Adamusiak proximal portion of anterior interventricular branch of left coronary artery FMAID:3866 Jie Zheng Proximal portion of anterior descending branch of left coronary artery Proximal portion of anterior descending branch of left coronary artery[accessedResource: FMAID:3866][accessDate: 05-04-2011] Tomasz Adamusiak proximal portion of circumflex branch of left coronary artery FMAID:3897 Jie Zheng Tomasz Adamusiak proximal portion of right coronary artery Anterior segment of right coronary artery Anterior segment of right coronary artery[accessedResource: FMAID:3804][accessDate: 05-04-2011] FMAID:3804 First segment of right coronary artery First segment of right coronary artery[accessedResource: FMAID:3804][accessDate: 05-04-2011] Jie Zheng Tomasz Adamusiak gene name obsolete_gene James Malone true 2.29 Import gene from sequence ontology instead obsolete_experiment NIFSTD:birnlex_2117 Tomasz Adamusiak true AIDS dementia A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.[accessedResource: DOID:1305][accessDate: 05-04-2011] A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. AIDS dementia complex AIDS dementia complex[accessedResource: DOID:1305][accessDate: 05-04-2011] AIDS with dementia (disorder) Acquired immune deficiency syndrome dementia complex DOID:1305 Ele Holloway HIV associated cognitive and motor complex HIV associated cognitive and motor complex[accessedResource: DOID:1305][accessDate: 05-04-2011] HIV encephalitis HIV-associated dementia HIV-associated dementia[accessedResource: DOID:1305][accessDate: 05-04-2011] NCIt:C2864 Tomasz Adamusiak acquired immune deficiency syndrome dementia complex[accessedResource: DOID:1305][accessDate: 05-04-2011] chronic childhood arthritis Arthritis (juvenile idiopathic) DOID:677 Ele Holloway Juvenile Rheumatoid Arthritis Juvenile chronic arthritis (disorder) Juvenile idiopathic arthritis (disorder) Juvenile rheumatoid a. Juvenile rheumatoid arthritis (disorder) Juvenile rheumatoid arthritis NOS (disorder) Juvenile rheumatoid arthritis, NOS Juvenile seropositive polyarthritis MSH:D001171 Tomasz Adamusiak arthritis, juvenile rheumatoid breast myoepithelial carcinoma breast myoepithelial carcinoma[accessedResource: DOID:677][accessDate: 05-04-2011] juvenile arthritis true cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine. A drug dependence that is a psychological dependency on the regular use of cocaine.[accessedResource: DOID:9975][accessDate: 05-04-2011] Cocaine addiction Cocaine dependence (disorder) Cocaine dependence, unspecified (disorder) Cocaine dependence, unspecified use Cocaine drug dependence NOS (disorder) DOID:9975 Ele Holloway Mental and behavioral disorder due to use of cocaine: dependence syndrome (disorder) Tomasz Adamusiak cocaine dependence[accessedResource: DOID:9975][accessDate: 05-04-2011] obsolete_hereditary breast and ovarian cancer BRCA1 BRCA1[accessedResource: DOID:5683][accessDate: 05-04-2011] BRCA2 BRCA2[accessedResource: DOID:5683][accessDate: 05-04-2011] DOID:5683 Ele Holloway Familiar breast and Ovarian cancer syndrome Familiar breast and Ovarian cancer syndrome[accessedResource: DOID:5683][accessDate: 05-04-2011] Tomasz Adamusiak hereditary breast ovarian cancer hereditary breast ovarian cancer[accessedResource: DOID:5683][accessDate: 05-04-2011] true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_3384' instead. New Label : Hereditary breast and ovarian cancer syndrome human herpesvirus 8 infection A gammaherpesvirus that contributes to the development of Kaposi sarcoma. A gammaherpesvirus that contributes to the development of Kaposi sarcoma.[accessedResource: NCIt:C14327][accessDate: 05-04-2011] Ele Holloway HHV-8 HHV-8[accessedResource: NCIt:C14327][accessDate: 05-04-2011] HHV8 HHV8[accessedResource: NCIt:C14327][accessDate: 05-04-2011] KSHV KSHV[accessedResource: NCIt:C14327][accessDate: 05-04-2011] Kaposi Sarcoma Herpes Virus Kaposi Sarcoma Herpes Virus[accessedResource: NCIt:C14327][accessDate: 05-04-2011] Kaposi Sarcoma-Associated Herpes Virus Kaposi Sarcoma-Associated Herpes Virus[accessedResource: NCIt:C14327][accessDate: 05-04-2011] Kaposi sarcoma-associated herpesvirus Kaposi sarcoma-associated herpesvirus[accessedResource: NCIt:C14327][accessDate: 05-04-2011] NCIt:C14327 Tomasz Adamusiak Virus-HHV8 Virus-HHV8[accessedResource: NCIt:C14327][accessDate: 05-04-2011] iatrogenic Kaposi's sarcoma DOID:6188 Ele Holloway Tomasz Adamusiak insulin resistance DOID:2017 Drug resistance to insulin (disorder) Ele Holloway HP:0000855 MP:0005331 MSH:D007333 Tomasz Adamusiak diminished effectiveness of insulin in lowering plasma glucose levels diminished effectiveness of insulin in lowering plasma glucose levels[accessedResource: MP:0005331][accessDate: 05-04-2011] true internal carotid artery stenosis Ele Holloway ICA - Internal carotid artery stenosis ICA - Internal carotid artery stenosis[accessedResource: SNOMEDCT:233964008][accessDate: 05-04-2011] Internal carotid artery stenosis (disorder) Internal carotid artery stenosis (disorder)[accessedResource: SNOMEDCT:233964008][accessDate: 05-04-2011] SNOMEDCT:233964008 Tomasz Adamusiak macroglobulinemia DOID:9080 Ele Holloway Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia Lymphoplasmacytic Lymphoma/Waldenstrom Macroglobulinemia[accessedResource: DOID:9080][accessDate: 05-04-2011] Macroglobulinemia (disorder) Macroglobulinemia (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011] Macroglobulinemia NOS (disorder) Macroglobulinemia NOS (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011] Tomasz Adamusiak Waldenstrm macroglobulinemia (disorder) Waldenstrm macroglobulinemia (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011] Waldenstrom's macroglob'naemia Waldenstrom's macroglob'naemia[accessedResource: DOID:9080][accessDate: 05-04-2011] Waldenstrom's macroglobulinaemia Waldenstrom's macroglobulinaemia[accessedResource: DOID:9080][accessDate: 05-04-2011] Waldenstrom's macroglobulinemia Waldenstrom's macroglobulinemia (disorder) Waldenstrom's macroglobulinemia (disorder)[accessedResource: DOID:9080][accessDate: 05-04-2011] Waldenstrom's macroglobulinemia (morphologic abnormality) Waldenstrom's macroglobulinemia (morphologic abnormality)[accessedResource: DOID:9080][accessDate: 05-04-2011] primary macroglobulinemia primary macroglobulinemia[accessedResource: DOID:9080][accessDate: 05-04-2011] metastatic melanoma DOID:4358 Ele Holloway Tomasz Adamusiak pancreatic carcinoma A carcinoma that is located_in cells found in the tissues of the pancreas. A carcinoma that is located_in cells found in the tissues of the pancreas.[accessedResource: DOID:4905][accessDate: 05-04-2011] A carcinoma that is manifested in cells found in the tissues of the pancreas. Cancer of Pancreas Cancer of Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Cancer of the Pancreas Cancer of the Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Cancer, Pancreas Cancer, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Cancer, Pancreatic Cancer, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011] Cancers, Pancreas Cancers, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Cancers, Pancreatic Cancers, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011] DOID:4905 Ele Holloway Exocrine pancreas carcinoma Exocrine pancreas carcinoma[accessedResource: DOID:4905][accessDate: 05-04-2011] MSH:D010190 NEOPL PANCREATIC NEOPL PANCREATIC[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasm, Pancreas Neoplasm, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasm, Pancreatic Neoplasm, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasms, Pancreas Neoplasms, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasms, Pancreatic Neoplasms, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011] OMIM:260350 PANCREAS NEOPL PANCREAS NEOPL[accessedResource: MSH:D010190][accessDate: 05-04-2011] PANCREATIC NEOPL PANCREATIC NEOPL[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreas Cancer Pancreas Cancer[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreas Cancers Pancreas Cancers[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreas Neoplasm Pancreas Neoplasm[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreas Neoplasms Pancreas Neoplasms[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreatic Cancer Pancreatic Cancer[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreatic Cancers Pancreatic Cancers[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreatic Neoplasm Pancreatic Neoplasm[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreatic Neoplasms Pancreatic Neoplasms[accessedResource: MSH:D010190][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA). Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).[accessedResource: MSH:D010190][accessDate: 05-04-2011] carcinoma of pancreas carcinoma of pancreas (disorder) carcinoma of pancreas (disorder)[accessedResource: DOID:4905][accessDate: 05-04-2011] carcinoma of pancreas[accessedResource: DOID:4905][accessDate: 05-04-2011] exocrine cancer true obsolete_pituitary adenoma DOID:3829 Ele Holloway Pituitary adenoma (disorder) Pituitary adenoma (disorder)[accessedResource: DOID:3829][accessDate: 05-04-2011] Pituitary adenoma - disorder Pituitary adenoma - disorder[accessedResource: DOID:3829][accessDate: 05-04-2011] Pituitary adenoma, no ICD-O subtype (morphologic abnormality) Pituitary adenoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3829][accessDate: 05-04-2011] Tomasz Adamusiak adenoma of the Pituitary gland adenoma of the Pituitary gland[accessedResource: DOID:3829][accessDate: 05-04-2011] use 'http://www.orphanet.org/rdfns#pat_id_14209' instead. New Label : Pituitary adenoma true 2.32 obsolete_primary hyperparathyroidism DOID:11202 Ele Holloway HP:0008200 OMIM:145980 Tomasz Adamusiak duplicate of class http://www.orphanet.org/rdfns#pat_id_5545 familial benign hypercalcemia (disorder) familial benign hypercalcemia (disorder)[accessedResource: DOID:11202][accessDate: 05-04-2011] familial primary hyperparathyroidism familial primary hyperparathyroidism[accessedResource: DOID:11202][accessDate: 05-04-2011] primary hyperparathyroidism (disorder) primary hyperparathyroidism (disorder)[accessedResource: DOID:11202][accessDate: 05-04-2011] true 2.33 prostate intraepithelial neoplasia A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade. A neoplastic proliferation of the epithelial cells that line the acini and the ducts of the prostate gland. The neoplastic epithelial cells are confined within the acini and the ducts and they do not invade the surrounding prostatic stroma. Morphologically, it is classified as low or high grade.[accessedResource: NCIt:C4064][accessDate: 05-04-2011] Ele Holloway MP:0009219 NCIt:C4064 PIN PIN - Prostatic Intraepithelial Neoplasia PIN - Prostatic Intraepithelial Neoplasia[accessedResource: NCIt:C4064][accessDate: 05-04-2011] PIN[accessedResource: MP:0009219][accessDate: 05-04-2011] Prostatic Intraepithelial Neoplasia[accessedResource: NCIt:C4064][accessDate: 05-04-2011] Tomasz Adamusiak noninvasive prostate duct lesions that affect smaller caliber ducts noninvasive prostate duct lesions that affect smaller caliber ducts[accessedResource: MP:0009219][accessDate: 05-04-2011] prostatic intraepithelial neoplasia rotavirus infection A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain. A Reoviridae infectious disease that results_in inflammation located_in stomach and located_in intestine, has_agent Rotavirus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by fomites. The infection has_symptom fever, has_symptom vomiting, has_symptom diarrhea, and has_symptom abdominal pain.[accessedResource: DOID:4887][accessDate: 05-04-2011] DOID:4887 Ele Holloway Rotavirus infectious disease Rotavirus infectious disease[accessedResource: DOID:4887][accessDate: 05-04-2011] Tomasz Adamusiak septic peritonitis Ele Holloway Tomasz Adamusiak http://en.wikipedia.org/wiki/Peritonitis#Septic_peritonitis obsolete_spinocerebellar ataxia A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH). A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop (MeSH).[accessedResource: NIFSTD:birnlex_12648][accessDate: 05-04-2011] DOID:1441 Dominantly-Inherited Spinocerebellar Ataxia Dominantly-Inherited Spinocerebellar Ataxia[accessedResource: NIFSTD:birnlex_12648][accessDate: 05-04-2011] Ele Holloway NIFSTD:birnlex_12648 OMIM:164400 Spinocerebellar Ataxias Spinocerebellar Atrophy Spinocerebellar Atrophy[accessedResource: NIFSTD:birnlex_12648][accessDate: 05-04-2011] Spinocerebellar ataxia (disorder) Spinocerebellar ataxia (disorder)[accessedResource: DOID:1441][accessDate: 05-04-2011] Tomasz Adamusiak Reorganised according to Orphanet hierarchy 2.32 true teratozoospermia Ele Holloway MP:0005578 Tomasz Adamusiak presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends presence of structurally anomalous spermatozoa in the semen; malformations include the physical bending of the sperm to produce kinks or bends[accessedResource: MP:0005578][accessDate: 05-04-2011] teratospermia teratospermia[accessedResource: MP:0005578][accessDate: 05-04-2011] thymus neoplasm DOID:3277 Ele Holloway OMIM:274230 Thymic tumor Thymic tumor[accessedResource: DOID:3277][accessDate: 05-04-2011] Tomasz Adamusiak neoplasm of thymus (disorder) neoplasm of thymus (disorder)[accessedResource: DOID:3277][accessDate: 05-04-2011] thymic neoplasm thymic neoplasm[accessedResource: DOID:3277][accessDate: 05-04-2011] vulvar intraepithelial neoplasia Dysplasia of Vulva Dysplasia of Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Dysplasia of the Vulva Dysplasia of the Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Ele Holloway Intraepithelial Neoplasia of Vulva Intraepithelial Neoplasia of Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Intraepithelial Neoplasia of the Vulva Intraepithelial Neoplasia of the Vulva[accessedResource: NCIt:C4756][accessDate: 05-04-2011] NCIt:C4756 Tomasz Adamusiak VIN VIN[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Vulva Dysplasia Vulva Dysplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Vulva Intraepithelial Neoplasia Vulva Intraepithelial Neoplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Vulval Dysplasia Vulval Dysplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Vulval Intraepithelial Neoplasia Vulval Intraepithelial Neoplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011] Vulvar Dysplasia Vulvar Dysplasia[accessedResource: NCIt:C4756][accessDate: 05-04-2011] peripartum cardiomyopathy DOID:9997 Postpartum cardiomyopathy Postpartum cardiomyopathy (disorder) Postpartum cardiomyopathy (disorder)[accessedResource: SNOMEDCT:62377009][accessDate: 05-04-2011] Postpartum cardiomyopathy[accessedResource: SNOMEDCT:62377009][accessDate: 05-04-2011] Puerperal cardiomyopathy Puerperal cardiomyopathy[accessedResource: SNOMEDCT:62377009][accessDate: 05-04-2011] SNOMEDCT:62377009 Tomasz Adamusiak antepartum peripartum cardiomyopathy antepartum peripartum cardiomyopathy[accessedResource: DOID:9997][accessDate: 05-04-2011] postpartum peripartum cardiomyopathy postpartum peripartum cardiomyopathy[accessedResource: DOID:9997][accessDate: 05-04-2011] true viral cardiomyopathy Dilated cardiomyopathy secondary to viral myocarditis Dilated cardiomyopathy secondary to viral myocarditis (disorder) Dilated cardiomyopathy secondary to viral myocarditis (disorder)[accessedResource: SNOMEDCT:30496006][accessDate: 05-04-2011] Dilated cardiomyopathy secondary to viral myocarditis[accessedResource: SNOMEDCT:30496006][accessDate: 05-04-2011] SNOMEDCT:30496006 Tomasz Adamusiak restrictive cardiomyopathy A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium. A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.[accessedResource: NCIt:C62798][accessDate: 05-04-2011] Cardiomyopathy, constrictive Cardiomyopathy, constrictive[accessedResource: DOID:397][accessDate: 05-04-2011] DOID:397 NCIt:C62798 Restrictive cardiomyopathy (disorder) Restrictive cardiomyopathy (disorder)[accessedResource: DOID:397][accessDate: 05-04-2011] Tomasz Adamusiak primary restrictive cardiomyopathy (disorder) primary restrictive cardiomyopathy (disorder)[accessedResource: DOID:397][accessDate: 05-04-2011] RCM obsolete_arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (disorder) Arrhythmogenic right ventricular cardiomyopathy (disorder)[accessedResource: SNOMEDCT:281170005][accessDate: 05-04-2011] Arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular dysplasia[accessedResource: SNOMEDCT:281170005][accessDate: 05-04-2011] OMIM:604400 SNOMEDCT:281170005 Tomasz Adamusiak duplicate of class http://www.orphanet.org/rdfns#pat_id_8591 true Arrhythmogenic right ventricular dysplasia/cardiomyopathy 2.33 ARVD/C obsolete_left ventricular noncompaction Left ventricular noncompaction (disorder) Left ventricular noncompaction (disorder)[accessedResource: SNOMEDCT:427608000][accessDate: 05-04-2011] OMIM:609470 SNOMEDCT:427608000 Tomasz Adamusiak 2.32 use 'http://www.orphanet.org/rdfns#pat_id_10750' instead. New Label : Left ventricular noncompaction true protocol parameter MDCC-MSB1 primary cell primary cell culture http://purl.obolibrary.org/obo/BTO_0001413 A cell taken directly from a living organism, which is not immortalized. dendritic cell-derived intermediate cell dendritic cell-derived osteoclast monocyte-derived intermediate cell monocyte-derived osteoclast ENBREL etanercept Etanercept (trade name Enbrel) is a drug that treats autoimmune diseases by interfering with tumor necrosis factor (TNF; a soluble inflammatory cytokine) by acting as a TNF inhibitor. Pfizer describes in a SEC filing that the drug is used to treat rheumatoid, juvenile rheumatoid and psoriatic arthritis, plaque psoriasis and ankylosing spondylitis. Sales reached record $3.3 billion in 2010.[1] Etanercept is a fusion protein produced through expression of recombinant DNA. That is, it is a product of a DNA "construct" engineered to link the human gene for soluble TNF receptor 2 to the gene for the Fc component of human immunoglobulin G1 (IgG1). Expression of the construct produces a continuous protein "fusing" TNF receptor 2 to IgG1. Production of Etanercept is accomplished by the large-scale culturing of cells that have been "cloned" to express this recombinant DNA construct. http://en.wikipedia.org/wiki/Etanercept iberin http://www.scbt.com/datasheet-205718-iberin.html CAS Number: 505-44-2 Molecular Weight: 163.26 Molecular Formula: C5H9NOS2 Purity: ≥97% Form: Liquid Physical Appearance: Light yellow liquid SMILES: CS(=O)CCCN=C=S antiprogestin Org 31710 http://en.wikipedia.org/wiki/Antiprogestin An antiprogestogen, also called an antiprogesterone or in the case of a synthetic agent, an antiprogestin, is a type of hormone antagonist in which that antagonizes or suppresses the actions of progesterone in the body, a sex hormone that plays a role in the menstrual cycle and pregnancy. Antiprogestogens may stop some cancer cells from growing and they are being studied in the treatment of breast cancer. An example of an antiprogestogen is mifepristone.[1][2 ovalbumin saline tempol 4-Hydroxy-TEMPO or TEMPOL, formally 4-hydroxy-2,2,6,6-tetramethylpiperidin-1-oxyl, is a heterocyclic compound. Like the related TEMPO, it is used as a catalyst and chemical oxidant. [edit]Pharmaceutical Applications Likely at least partially due to its superoxide dismutase activity, TEMPOL shows radioprotective, life-prolonging properties in animal models, suggesting its potential usefulness for treatment of human diseases.[1] It is currently being studied in human subjects for prevention of radiation-induced alopecia.[2] This nitroxide antioxidant or its derivatives are also undergoing prospective clinical studies in several clinical conditions. In addition to radioprotection, these include high blood pressure[3][4] and macular degeneration[5]. A published patent[6] claims other clinical uses for TEMPOL and related compounds. These include treatment of fibrocystic disease of breast, menstrual cramps and their associated symptoms, migraine, hemorrhoids, neuropathic pain, cyclic vomiting syndrome, and peridontitis. The patent also claims treatment of the symptoms of influenza, herpes zoster and herpes simplex. [edit]References http://en.wikipedia.org/wiki/Tempol urocortin I http://en.wikipedia.org/wiki/Urocortin Urocortin is a protein that in humans is encoded by the UCN gene.[1][2][3] This gene is a member of the sauvagine/corticotropin-releasing factor/urotensin I family. It is structurally related to the corticotropin-releasing factor (CRF) gene and the encoded product is an endogenous ligand for CRF type 2 receptors. In the brain, it may be responsible for the effects of stress on appetite. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin II.[3] Urocortin is a potent anorexigenic peptide of 40 amino acids that induces fed-like motor activity when administered centrally or peripherally in fasted animals. Urocortin belongs to the corticotropin-releasing factor (CRF) family that includes CRF, urotensin I, sauvagine, urocortin II and urocortin III. Urocortin is also a potent and long-lasting hypotensive agent and increases coronary blood flow. urocortin II Urocortin 2 (Ucn2) is an endogenous peptide in the corticotrophin-releasing factor (CRF) family.[1] Immunohistochemistry analysis of human myocytes has shown greater immunoreactivity of Ucn2 in myocytes of the failing heart compared to those of the healthy heart. Researchers suggest this is a result of an innate mechanism in which Ucn2 acts to improve function of the failing heart [2]. The pathophysiology of heart failure is often a consequence of improper calcium handling and relaxation resulting in a lower cardiac output, decreased blood flow and overall decreased heart function [3]. Infusion of Ucn2 in healthy humans has shown a dose dependent increase in cardiac output, heart rate and left ventricle ejection fraction and a decrease in systemic vascular resistance [4]. Ucn2 has been studied as potential treatment for individuals with heart failure. http://en.wikipedia.org/wiki/Urocortin_II 3rd instar larva floral transition obsolete_pupa An intermediate usually quiescent stage of a metamorphic insect (as a bee, moth, or beetle) that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago. An intermediate usually quiescent stage of a metamorphic insect as a bee, moth, or beetle that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago. An intermediate usually quiescent stage of a metamorphic insect as a bee, moth, or beetle that occurs between the larva and the imago, is usually enclosed in a cocoon or protective covering, and undergoes internal changes by which larval structures are replaced by those typical of the imago.[accessedResource: BTO:0001143][accessDate: 05-04-2011] BTO:0001143 true Use http://purl.obolibrary.org/obo/UBERON_0003143 label pupa 2.39 obsolete_rosette stage true Synonym of rosette growth. atopy A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms. A genetic predisposition to form IgE antibodies in response to exposure to allergens and therefore, for the development of immediate (type I) hypersensitivity and atopic conditions, such as allergic rhinitis; bronchial asthma, atopic dermatitis, and food allergy. Mutations of specific alleles on the long arm of chromosome 5 have been associated with higher levels of IL-4 and IgE and are known as IL-4 promoter polymorphisms.[accessedResource: NCIt:C41366][accessDate: 05-04-2011] Atopic Allergy Atopic Allergy[accessedResource: NCIt:C41366][accessDate: 05-04-2011] Atopy is an exaggerated IgE-mediated immune response; all atopic disorders are type I hypersensitivity disorders. Not all allergic diseases are atopic. Source: Merck Manual NCIt:C41366 Tomasz Adamusiak true ischemia reperfusion injury ischaemia reperfusion injury obsolete_myelodysplastic syndrome (MDS)-like 2.5 true use EFO_0000198 primary antiphospholipid syndrome An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin).[accessedResource: DOID:2988][accessDate: 05-04-2011] Antiphospholipid syndrome (disorder) Antiphospholipid syndrome (disorder)[accessedResource: DOID:2988][accessDate: 05-04-2011] DOID:2988 antiphospholipid antibody syndrome antiphospholipid antibody syndrome[accessedResource: DOID:2988][accessDate: 05-04-2011] antiphospholipid syndrome antiphospholipid syndrome antiphospholipid syndrome[accessedResource: DOID:2988][accessDate: 05-04-2011] systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.[accessedResource: MSH:D008180][accessDate: 05-04-2011] Disease, Libman-Sacks Disease, Libman-Sacks[accessedResource: MSH:D008180][accessDate: 05-04-2011] EV:0400043 LIBMAN SACKS DIS LIBMAN SACKS DIS[accessedResource: MSH:D008180][accessDate: 05-04-2011] Libman Sacks Disease Libman Sacks Disease[accessedResource: MSH:D008180][accessDate: 05-04-2011] Libman-Sacks Disease Libman-Sacks Disease[accessedResource: MSH:D008180][accessDate: 05-04-2011] Lupus Erythematosus Disseminatus Lupus Erythematosus Disseminatus[accessedResource: MSH:D008180][accessDate: 05-04-2011] Lupus Erythematosus, Systemic Lupus Erythematosus, Systemic[accessedResource: MSH:D008180][accessDate: 05-04-2011] MSH:D008180 SLE SLE[accessedResource: MSH:D008180][accessDate: 05-04-2011] Tomasz Adamusiak lupus systemic lupus erythematosus true retinal ganglion ChIP-seq ChIP-seq is an assay in which chromatin immunoprecipitation with high throughput sequencing is used to identify the cistrome of DNA-associated proteins. Helen Parkinson http://en.wikipedia.org/wiki/Chip-Sequencing ChIP-Seq (Direct sequencing of chromatin immunoprecipitates) DNA-seq An assay in which -sequencing technology (e.g. Solexa/454) is used to determine NDNA sequence ArrayExpress Production Team DNA sequencing experimental process Experiment Experiment[accessedResource: NIFSTD:birnlex_2117][accessDate: 05-04-2011] NIFSTD:birnlex_2117 A process performed as part of an experiment or wider study, i.e. intentionally designed. obsolete_RNA-seq An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, analyse the transcibed regions of the genome, and or to quantitate transcript abundance ArrayExpress Production Team true array assay A gene expression hybridization on an Affymetrix U133 chip An assay which uses array based technology to determine information about nucleic acids or proteins Array assay high throughput sequencing assay An assay which uses high throughput sequencing technology to determine the sequence of nucleic acids Helen Parkinson Solexa sequencing of coding RNA array An instrument which consists of nucleic acid or protein molecules bound to a substrate Helen Parkinson microarray high throughput sequencer Helen Parkinson Illumina genome analyzer II Is an instrument is which supports massively parallel sequencing of nucleic acids DNA array An array consisting of DNA probes bound to a substrate Helen Parkinson http://en.wikipedia.org/wiki/DNA_microarray#Uses_and_types protein array A protein array is an array which provides a multiplex approach to identify protein-protein interactions, to identify the substrates of protein kinases, to identify transcription factor protein-activation, or to identify the targets of biologically active small molecules. The array is a substrate (e.g. glass) on which different molecules of protein or specific DNA binding sequences (as capture probes for the proteins) have been affixed at separate locations in an ordered manner thus forming a microscopic array. The most common protein microarray is the antibody microarray, where antibodies are spotted onto the protein chip and are used as capture molecules to detect proteins from cell lysate solutions. Helen Parkinson http://en.wikipedia.org/wiki/Protein_microarray protein binding array SNP array Helen Parkinson SNP array is a DNA array used to detect polymorphisms in DNA samples tiling array A tiling array is an array which has short fragments of nucleic acid immobilized on a substrate. These are designed to cover the whole genome of the target species. Tiling arrays are used to determine genome binding in ChIP assays or to identify transcribed regions. Helen Parkinson genome tiling array http://en.wikipedia.org/wiki/Tiling_array HPL1 Ele Holloway James Malone SM1 Ele Holloway James Malone NT-1 Ele Holloway James Malone SCN2.2 A SCN2.2 is a cell line. A SCN2.2 is both something that derives from a rattus norvegicus, and something that derives from a suprachiasmatic nucleus. Ele Holloway James Malone Natural Language Generator 8th April 2010 BxPC-3 BTO:0001861 Bx-PC3 cell BxPC-3 cell BxPC-3 cell[accessedResource: BTO:0001861][accessDate: 05-04-2011] BxPC3 BxPC3 cell Ele Holloway HTL96012 Human pancreatic adenocarcinoma cell line, established from a 61 year old human female. Human pancreatic adenocarcinoma cell line, established from a 61 year old human female.[accessedResource: BTO:0001861][accessDate: 05-04-2011] James Malone COLO357 Ele Holloway James Malone F13 Ele Holloway James Malone Normal pancreatic cell line KIF5 A normal pancreas cell line. Ele Holloway James Malone Panc1 Ele Holloway James Malone PANC-1 Panc89 Ele Holloway James Malone T3M4 PancTUI Ele Holloway James Malone PancTu-I Pt45P1 Ele Holloway James Malone SH-SY5Y CRL-2266 Ele Holloway James Malone hatching long-pec Hatching:Long-pec Hatching:Long-pec[accessedResource: ZFS:0000033][accessDate: 05-04-2011] James Malone ZFS:0000033 L2 larva James Malone The second stage larva. At 25 Centigrade, it ranges 25.5-32.5 hours after fertilization, 11.5-18.5 hours after hatch. WBls:0000027 L3 larva The third stage larva. At 25 Centigrade, it ranges 32.5-40 hours after fertilization, 18.5-26 hours after hatch. WBls:0000035 postmenopausal James Malone NCIt:C15421 B10.NOD_H2g7 C57Bl/10 derived non-diabetic mouse strain expressing H2g7. Jie Zheng Tomasz Adamusiak https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=8649&&study_id=2424 NOD.scid Jie Zheng Nonobese diabetic (NOD) mouse strain which is homozygous for the scid mutation. Tomasz Adamusiak http://www.criver.com/fr-FR/ProdServ/ByType/ResModOver/ResMod/Pages/NOD_SCID_mouse_J.aspx https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=10939&&study_id=3144 B10.NOD_H2g7_Idd3 C57Bl/10 derived non-diabetic mouse strain expressing H2g7 and Idd3 Jie Zheng Tomasz Adamusiak https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=8647&&study_id=2424 B6.H2_g7 C57BL/6 congenically expressing H2g7 mouse strain. Jie Zheng PMID:15356126 Tomasz Adamusiak C57BL/6-scid Jie Zheng Severe Combined Immunodeficiency (SCID) mutant in C57BL6 genetic background mouse strain. Tomasz Adamusiak https://www.cbil.upenn.edu/RADQuerier/php/sampleInfo.php?assay_id=10943&&study_id=3144 NOD.B10 C57Bl/10 derived nonobese diabetic (NOD) mouse strain. Jie Zheng Tomasz Adamusiak https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=2424 NOD.B6 C57Bl/6 derived nonobese diabetic (NOD) mouse strain. Jie Zheng Tomasz Adamusiak https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=2424 IR (lox/lox) IR(lox/lox) transfection mouse strain maintained on a mixed (C57BL/6 x 129/Sv) genetic background. Jie Zheng PMID:9844629 Tomasz Adamusiak ObOb Jie Zheng Mouse strain with deficiency of the leptin gene (ObOb). Tomasz Adamusiak http://www.cbil.upenn.edu/RAD/DGAP/php/displayStudy.php?study_id=2340&&download=1#study2340 obsolete_tail bud BTO:0001445 Jie Zheng The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node. The rapidly proliferating mass of cells at the caudal extremity of the embryo; remnant of the primitive node.[accessedResource: BTO:0001445][accessDate: 05-04-2011] Tomasz Adamusiak end bud tailbud true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002533 label: tail bud undisturbed flow regions Athero-protected regions of aorta. Jie Zheng Tomasz Adamusiak https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=449 disturbed flow regions Athero-susceptible regions of aorta. Jie Zheng Tomasz Adamusiak https://www.cbil.upenn.edu/RADQuerier/php/displayStudy.php?study_id=449 benign For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health. For neoplasms, a non-infiltrating and non-metastasizing neoplastic process that is characterized by the absence of morphologic features associated with malignancy (e.g., severe atypia, nuclear pleomorphism, tumor cell necrosis, and abnormal mitoses). For other conditions, a process that is mild in nature and not dangerous to health.[accessedResource: NCIt:C14172][accessDate: 05-04-2011] Jie Zheng NCIt:C14172 Tomasz Adamusiak aggressive Jie Zheng NCIt:C14138 Tomasz Adamusiak diet Dietary Dietary[accessedResource: NCIt:C15222][accessDate: 05-04-2011] Diets Diets[accessedResource: MSH:D004032][accessDate: 05-04-2011] Jie Zheng MSH:D004032 NCIt:C15222 Regular course of eating and drinking adopted by a person or animal. This does not include DIET THERAPY, a specific diet prescribed in the treatment of a disease. Regular course of eating and drinking adopted by a person or animal. This does not include DIET THERAPY, a specific diet prescribed in the treatment of a disease.[accessedResource: MSH:D004032][accessDate: 05-04-2011] The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health. The customary allowance of food and drink taken by a person or an animal from day to day, particularly one especially planned to meet specific requirements of the individual, including or excluding certain items of food; a prescribed course of eating and drinking in which the amount and kind of food, as well as the times at which it is to be taken, are regulated for therapeutic purposes or selected with reference to a particular state of health.[accessedResource: NCIt:C15222][accessDate: 05-04-2011] Tomasz Adamusiak fasting Abstaining from food. Abstaining from food.[accessedResource: NCIt:C63663][accessDate: 05-04-2011] Fast Fast[accessedResource: NCIt:C63663][accessDate: 05-04-2011] Jie Zheng NCIt:C63663 Tomasz Adamusiak high fat diet HF - High fat diet HF - High fat diet[accessedResource: SNOMEDCT:226097005][accessDate: 05-04-2011] High fat diet (finding) High fat diet (finding)[accessedResource: SNOMEDCT:226097005][accessDate: 05-04-2011] Jie Zheng SNOMEDCT:226097005 Tomasz Adamusiak low fat diet Diet - low in fat Diet - low in fat[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011] Jie Zheng LF - Low fat diet LF - Low fat diet[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011] LFD - Low fat diet LFD - Low fat diet[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011] Low fat diet (finding) Low fat diet (finding)[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011] Low fat diet, NOS Low fat diet, NOS[accessedResource: SNOMEDCT:16208003][accessDate: 05-04-2011] SNOMEDCT:16208003 Tomasz Adamusiak methylation profiling by array An assay in which the methylation state of DNA is determined and is compared between samples using array technology ArrayExpress production team James Malone Methylation profiling by array ChIP-chip by array An assay where chromatin immunoprecipitation (ChIP) is used in combination with microarray technology methylation profiling by high throughput sequencing An assay in which the methylation state of DNA is determined and is compared between samples using sequencing based technology ArrayExpress production team Helen Parkinson James Malone Methylation profiling by high throughput sequencing ChIP-chip by tiling array An assay where chromatin immunoprecipitation (ChIP) is used in combination with tiling microarray technology obsolete_ChIP-seq by high throughput sequencing 2.1 Consolodated with ChiP-seq EFO_0002692 true ChIP-chip by SNP array An assay where chromatin immunoprecipitation (ChIP) is used in combination with SNP microarray technology proteomic profiling by array An experiment where proteins in a sample are detected, quantified or otherwise analysed, e.g. antibody profiling using an array based technology James Malone Proteomic profiling by array proteomic profiling by mass spectrometer An assay where proteins in a sample are detected, quantified or otherwise analysed using mass spectrometry Helen Parkinson Mass spectrometry genotyping by array An assay in which an array is used detect polymorphisms in DNA samples Genotyping by array transcription profiling by array An assay in which the transcriptome of a biological sample is analysed using array technology. James Malone Transcription profling by array transcription profiling by tiling array An assay in which the transcriptome of a biological sample is analysed using a tiling path array. James Malone Transcription profiling by tiling array transcription profiling by high throughput sequencing An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, analyse the transcibed regions of the genome, and or to quantitate transcript abundance ArrayExpress Team James Malone RNA-seq RNA-seq genotyping by high throughput sequencing An assay in which high throughput sequencing is used to determine the genotype of a DNA sample James Malone Genotyping by high throughput sequencing assay by molecule Assay by molecule assay by instrument Assay by technology mass spectrometry assay Mass spectrometry assay aorta smooth muscle BTO:0001685 aortic smooth muscle aortic smooth muscle cell aortic smooth muscle[accessedResource: BTO:0001685][accessDate: 05-04-2011] H0287 H0287 is a cell line derived from normal lymphoblastoid cells Normal Human Astrocytes James Malone NHA NHA is a cell line derived from normal (healthy) human astrocyte cells. BG02ES BG02 BG02ES is a cell line dervied from human embryonic stem cells. James Malone BJ obsolete_chorion BTO:0000252 James Malone The chorion is one of the membranes that exists during pregnancy between the developing fetus and mother. It is formed by extraembryonic mesoderm and the two layers of trophoblast and surrounds the embryo and other membranes. The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta. The outer membrane of the two membranes enclosing the embryo in reptiles, birds, and mammals. In placental mammals it contributes to the development of the placenta.[accessedResource: BTO:0000252][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0003124 label: chorion true chorion cell line A chorion cell line is a cell line that is derived from the chorion. glioblastoma H54 Glioblastoma H54 is a cell line derived from H54 GM06990 GM06990 is a cell line derived from some lymphoblastoid cells from a CEPH familiy of UTAH/MORMON ethnicity. It is supplied by Corriell under catalogue number GM06990. GM12878 GM12891 GM12892 A GM12892 is a cell line. A GM12892 is all of the following: something that has as quality a female, something that derives from Homo sapiens, and something that derives from a b cell. James Malone Natural Language Generator 8th April 2010 GM18507 A GM18507 is a cell line. A GM18507 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a lymphoblast. James Malone Natural Language Generator 8th April 2010 GM19238 A GM19238 is a cell line. A GM19238 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell. James Malone Natural Language Generator 8th April 2010 GM19239 A GM19239 is a cell line. A GM19239 is all of the following: something that has as quality a male, something that derives from a Homo sapiens, and something that derives from a b cell. James Malone Natural Language Generator 8th April 2010 GM19240 A GM19240 is a cell line. A GM19240 is all of the following: something that has as quality a female, something that derives from a Homo sapiens, and something that derives from a b cell. James Malone Natural Language Generator 8th April 2010 HeLa-S3 HGF A HGF is a cell line. A HGF is all of the following: something that has as quality a normal, something that derives from a Homo sapiens, and something that derives from a fibroblast. Human Gingival Fibroblasts James Malone Natural Language Generator 8th April 2010 HL-60 BTO:0000738 HL-60 cell HL-60 cell[accessedResource: BTO:0000738][accessDate: 05-04-2011] HL-60 is a cell line which is the bearer of human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976. HL60 HL60 cell Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976. Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976.[accessedResource: BTO:0000738][accessDate: 05-04-2011] HRE Human Renal Epithelial cell line HUVEC cell line Jurkat A Jurkat is a cell line. A Jurkat is all of the following: something that is bearer of a T cell acute lymphoblastic leukemia, something that derives from a homo sapiens, and something that derives from a T cell. BTO:0000661 Ele Holloway Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called "JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features. Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features. Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features.[accessedResource: BTO:0000661][accessDate: 05-04-2011] JM JM cell JURKAT cell JURKAT cell[accessedResource: BTO:0000661][accessDate: 05-04-2011] James Malone Natural Language Generator 8th April 2010 LHSR James Malone LHSR is a cell line in which human prostate epithelial cells (PrEC) were infected with amphotropic retroviruses encoding the SV40 large T antigen (L), the telomerase catalytic subunit hTERT (H), the SV40 small T antigen (S) and an oncogenic allele of H-ras (R) to create LHSR cells. NB4 NHEK SAEC SAEC is a cell line derived from Small Airway Epithelial Cells SKMC Human Skeletal Muscle Cells SK-N-SH_RA neuroblastoma cell line differentiated w/ retinoic acid TH-1 TH-2 obsolete_pelvis BTO:0001006 Subdivision of abdomen, which is demarcated from the abdomen proper by the plane of the superior pelvic aperture, and from the perineum by the inferior surface of the pelvic diaphragm; together with the abdomen proper, it constitutes the abdomen. Examples: There is only one pelvis. The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the p. major superiorly and the p. minor inferiorly. The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the pelvis major superiorly and the pelvis minor inferiorly. The inferior portion of the trunk of the body, bounded anteriorly and laterally by the two hip bones and posteriorly by the sacrum and coccyx. The pelvis is divided by a plane passing through the terminal lines into the pelvis major superiorly and the pelvis minor inferiorly.[accessedResource: BTO:0001006][accessDate: 05-04-2011] http://sig.biostr.washington.edu/fma3.0#Pelvis 2.38 Use http://purl.obolibrary.org/obo/UBERON_0003690 label: pelvis true retroperitoneum James Malone The retroperitoneum (or extraperitoneum) is the anatomical space in the abdominal cavity behind (retro) the peritoneum. [wikipedia: http://en.wikipedia.org/wiki/Retroperitoneum] http://sig.biostr.washington.edu/fma3.0#Retroperitoneal_space retroperitoneum space 4470 Ele Holloway James Malone 4475 Ele Holloway James Malone 4483 Ele Holloway James Malone 1205-Lu A 1205 lu is a cell line. A 1205 lu is both something that is bearer of a melanoma, and something that derives from a homo sapiens. Ele Holloway James Malone Natural Language Generator 8th April 2010 3T3-F442A 3T3-F442A cell 3T3-F442A cell[accessedResource: BTO:0001169][accessDate: 05-04-2011] BTO:0001169 Ele Holloway F442A F442A cell James Malone Preadipocyte cell line. Preadipocyte cell line.[accessedResource: BTO:0001169][accessDate: 05-04-2011] AB2.2 An ab2.2 is a cell line. An ab2.2 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell. Ele Holloway James Malone Natural Language Generator 8th April 2010 ABC-1 Ele Holloway JCRB0815 James Malone AZ-521 AZ521 Ele Holloway JCRB0061 James Malone BJAB BJAB cell BJAB cell[accessedResource: BTO:0001931][accessDate: 05-04-2011] BTO:0001931 Ele Holloway James Malone The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line. The malignant human B-cell-line BJAB is a EBV-negative Burkitt-like lymphoma cell line.[accessedResource: BTO:0001931][accessDate: 05-04-2011] C3H10T1/2 Ele Holloway James Malone Caco-2/TC7 Ele Holloway James Malone CADO ES1 A CADO ES1 is a cell line. A CADO ES1 is both something that is bearer of a 39 s sarcoma, and something that derives from Homo sapiens. Ele Holloway James Malone Calu3 Ele Holloway James Malone CM7-1 A CM7-1 is a cell line. A CM7-1 is both something that derives from a mus musculus, and something that derives from an embryonic stem cell. Ele Holloway James Malone Natural Language Generator 8th April 2010 CTLL-2 BTO:0001482 CTLL-2 cell CTLL-2 cell[accessedResource: BTO:0001482][accessDate: 05-04-2011] Ele Holloway James Malone Mouse, C57BL/6, T-lymphocyte cell line. Mouse, C57BL/6, T-lymphocyte cell line.[accessedResource: BTO:0001482][accessDate: 05-04-2011] D10.G4.1 Ele Holloway James Malone H69 BTO:0000679 Ele Holloway H69 cell H69 cell[accessedResource: BTO:0000679][accessDate: 05-04-2011] HTB-119 Human Caucasian lung small cell carcinoma cell line. Human Caucasian lung small cell carcinoma cell line.[accessedResource: BTO:0000679][accessDate: 05-04-2011] James Malone HCT116 BTO:0002254 Ele Holloway HCT-116 cell HCT-116 cell[accessedResource: BTO:0002254][accessDate: 05-04-2011] HCT116 cell Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man. Human colon carcinoma cell line; established from the primary colon carcinoma of an adult man.[accessedResource: BTO:0002254][accessDate: 05-04-2011] James Malone obsolete_Jurkat 2.2 BTO:0000661 Duplicate with EFO_0002796 Ele Holloway Human T cell leukemia, established from the peripheral blood of a 14-year-old boy with acute lymphoblastic leukemia (ALL) at first relapse in 1976; often this cell line is called "JM (JURKAT and JM are derived from the same patient and are sister clones), occasionally JM may be a subclone with somewhat divergent features. James Malone true KS-IMM A KS-IMM is a cell line. A KS-IMM is bearer of a Kaposi's sarcoma. BTO:0002070 Ele Holloway James Malone KS IMM cell KS-IMM cell KS-IMM cell[accessedResource: BTO:0002070][accessDate: 05-04-2011] KSIMM cell The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor. The tumorigenic KS IMM cell line derives from Kaposi's sarcoma (KS), a highly angiogenic tumor.[accessedResource: BTO:0002070][accessDate: 05-04-2011] LC-1F A LC-1F is a cell line. A LC-1F is both something that is bearer of a squamous cell lung carcinoma, and something that derives from a Homo sapiens. Ele Holloway James Malone Natural Language Generator 8th April 2010 Lu135 Ele Holloway JCRB0170 James Malone Lu-135 MIN6 A MIN6 is a cell line. A MIN6 derives from a mus musculus. BTO:0002284 Ele Holloway James Malone MIN-6 cell MIN-6 cell[accessedResource: BTO:0002284][accessDate: 05-04-2011] MIN6 cell Natural Language Generator 8th April 2010 The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells. The murine MIN6 cell line derived from in vivo immortalized insulin-secreting pancreatic beta cells.[accessedResource: BTO:0002284][accessDate: 05-04-2011] MKN1 BTO:0002384 Ele Holloway Human gastric adenosquamous carcinoma cell line. Human gastric adenosquamous carcinoma cell line.[accessedResource: BTO:0002384][accessDate: 05-04-2011] JCRB0252 James Malone MKN-1 MKN-1 cell MKN-1 cell[accessedResource: BTO:0002384][accessDate: 05-04-2011] MKN1 cell MKN28 BTO:0002381 Ele Holloway JCRB0253 James Malone MKN-28 MKN-28 cell MKN-28 cell[accessedResource: BTO:0002381][accessDate: 05-04-2011] MKN28 cell Well differentiated human gastric adenocarcinoma cell line. Well differentiated human gastric adenocarcinoma cell line.[accessedResource: BTO:0002381][accessDate: 05-04-2011] MKN45 BTO:0001225 Ele Holloway Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman. Human gastric adenocarcinoma, established from the poorly differentiated adenocarcinoma of the stomach (medullary type) of a 62-year-old woman.[accessedResource: BTO:0001225][accessDate: 05-04-2011] JCRB0254 James Malone MKN-45 MKN-45 cell MKN-45 cell[accessedResource: BTO:0001225][accessDate: 05-04-2011] MKN45 cell MKN74 BTO:0002383 Ele Holloway JCRB0255 James Malone MKN-74 MKN-74 cell MKN-74 cell[accessedResource: BTO:0002383][accessDate: 05-04-2011] MKN74 cell Well differentiated human gastric adenocarcinoma cell line. Well differentiated human gastric adenocarcinoma cell line.[accessedResource: BTO:0002383][accessDate: 05-04-2011] MRC5 BTO:0001590 Ele Holloway Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966. Homo sapiens (human) lung; fibroblast; normal cell line. The MRC-5 cell line was derived from normal lung tissue of a 14-week-old male fetus by J.P. Jacobs in September of 1966.[accessedResource: BTO:0001590][accessDate: 05-04-2011] James Malone MRC-5 MRC-5 cell MRC-5 cell[accessedResource: BTO:0001590][accessDate: 05-04-2011] MRC-V cell MRC5 cell MS-1 Ele Holloway JCRB1081 James Malone MS-1-L MS428 Ele Holloway James Malone MS589 Ele Holloway James Malone MSTO-211H 211H cell BTO:0002425 CRL-2081 Ele Holloway Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy. Human mesothelioma cell line; established from the pleural effusion of a 62-year-old Caucasian man with mesothelioma (malignant biphasic) who did not have any prior therapy.[accessedResource: BTO:0002425][accessDate: 05-04-2011] James Malone MSTO-211 H cell MSTO-211H cell MSTO-211H cell[accessedResource: BTO:0002425][accessDate: 05-04-2011] N231 Ele Holloway James Malone NCI-N87 Ele Holloway James Malone PC-1 Ele Holloway James Malone PC-10 Ele Holloway James Malone PC-14 Ele Holloway James Malone PC-6 Ele Holloway James Malone PC-7 Ele Holloway James Malone PC-9 Ele Holloway James Malone QG56 Ele Holloway James Malone R11 Ele Holloway James Malone RERF-LC-AI Ele Holloway James Malone RERF-LC-KJ Ele Holloway JCRB0137 James Malone RERF-LC-MS Ele Holloway JCRB0081 James Malone RM 82 A RM 82 is a cell line. A RM 82 is both something that is bearer of a 39 s sarcoma, and something that derives from a Homo sapiens. Ele Holloway James Malone RM82 SBC-3 A SBC-3 is a cell line. A SBC-3 is both something that is bearer of a small cell lung carcinoma, and something that derives from a Homo sapiens. Ele Holloway JCRB0818 James Malone SBC-5 Ele Holloway JCRB0819 James Malone SCH Ele Holloway James Malone SHEP-SF Ele Holloway James Malone SK-ES-1 Ele Holloway James Malone SK ES1 SK-N-AS Ele Holloway James Malone SKNAS SK-N-MC Ele Holloway HB-10 James Malone SKNMc SQ-5 Ele Holloway James Malone STA-ET-1 Ele Holloway James Malone STA ET1 STA-ET-2.1 Ele Holloway James Malone STA ET2.1 T24 Ele Holloway James Malone TC71 Ele Holloway James Malone TE85 Ele Holloway James Malone TMK1 Ele Holloway James Malone TT3E Ele Holloway James Malone U2OS Ele Holloway James Malone U2-OS VH-64 Ele Holloway James Malone WB-F344 Ele Holloway James Malone WE-68 Ele Holloway James Malone WM793 Ele Holloway James Malone WM793-P1N1 Ele Holloway James Malone WM793-P2N1 Ele Holloway James Malone YCC1 Ele Holloway James Malone YCC10 Ele Holloway James Malone YCC11 Ele Holloway James Malone YCC16 Ele Holloway James Malone YCC3 Ele Holloway James Malone YCC6 Ele Holloway James Malone YCC7 Ele Holloway James Malone haemopoietic system cell line mammary gland cell line breast cancer cell line stem cell derived cell line mouse cell line Homo sapiens cell line renal carcinoma A carcinoma arising from the epithelium of the renal parenchyma (renal cell carcinoma) or the renal pelvis (renal pelvis carcinoma). The vast majority of renal cell carcinomas are adenocarcinomas. The vast majority of renal pelvis carcinomas are transitional cell carcinomas. Renal carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. -- 2004 A carcinoma arising from the epithelium of the renal parenchyma (renal cell carcinoma) or the renal pelvis (renal pelvis carcinoma). The vast majority of renal cell carcinomas are adenocarcinomas. The vast majority of renal pelvis carcinomas are transitional cell carcinomas. Renal carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. -- 2004[accessedResource: NCIt:C9384][accessDate: 05-04-2011] A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.[accessedResource: MSH:D002292][accessDate: 05-04-2011] Adenocarcinoma, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Adenocarcinomas, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Cancer, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Cancers, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma, Collecting Duct (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma, Hypernephroid Carcinoma, Hypernephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma, Nephroid Carcinoma, Nephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinoma, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Collecting Duct (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Hypernephroid Carcinomas, Hypernephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Nephroid Carcinomas, Nephroid[accessedResource: MSH:D002292][accessDate: 05-04-2011] Carcinomas, Renal Cell[accessedResource: MSH:D002292][accessDate: 05-04-2011] Chromophobe Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Clear Cell Renal Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Collecting Duct Carcinoma (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Collecting Duct Carcinoma of the Kidney[accessedResource: MSH:D002292][accessDate: 05-04-2011] Collecting Duct Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Collecting Duct Carcinomas (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Duct Carcinoma, Collecting (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Duct Carcinomas, Collecting (Kidney)[accessedResource: MSH:D002292][accessDate: 05-04-2011] Grawitz Tumor Grawitz Tumor[accessedResource: MSH:D002292][accessDate: 05-04-2011] Hypernephroid Carcinoma Hypernephroid Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Hypernephroid Carcinomas Hypernephroid Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] Hypernephroma Hypernephroma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Hypernephromas Hypernephromas[accessedResource: MSH:D002292][accessDate: 05-04-2011] Kidney Cancer Kidney Cancer[accessedResource: NCIt:C9384][accessDate: 05-04-2011] Kidney Carcinoma Kidney Carcinoma[accessedResource: NCIt:C9384][accessDate: 05-04-2011] MSH:D002292 NCIt:C9384 Nephroid Carcinoma Nephroid Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Nephroid Carcinomas Nephroid Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] OMIM:144700 Papillary Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cancer Renal Cancer[accessedResource: NCIt:C9384][accessDate: 05-04-2011] Renal Cell Adenocarcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cell Adenocarcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cell Cancer[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cell Cancers[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Cell Carcinomas[accessedResource: MSH:D002292][accessDate: 05-04-2011] Renal Collecting Duct Carcinoma Renal Collecting Duct Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Sarcomatoid Renal Cell Carcinoma[accessedResource: MSH:D002292][accessDate: 05-04-2011] Tomasz Adamusiak Tumor, Grawitz Tumor, Grawitz[accessedResource: MSH:D002292][accessDate: 05-04-2011] prostate derived cell line Any cell line that is derived from the prostate. James Malone thyroid carcinoma DOID:3963 James Malone head and neck cancer, Thyroid head and neck cancer, Thyroid[accessedResource: DOID:3963][accessDate: 05-04-2011] thyroid cancer choriocarcinoma An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected. An aggressive malignant tumor arising from trophoblastic cells. The vast majority of cases arise in the uterus and represent gestational choriocarcinomas that derive from placental trophoblastic cells. Approximately half of the cases develop from a complete hydatidiform mole. A minority of cases arise in the testis or the ovaries. There is often marked elevation of human chorionic gonadotropin (hCG) in the blood. Choriocarcinomas disseminate rapidly through the hematogenous route; the lungs are most frequently affected.[accessedResource: NCIt:C2948][accessDate: 05-04-2011] Choriocarcinoma (disorder) Choriocarcinoma (disorder)[accessedResource: DOID:3594][accessDate: 05-04-2011] Choriocarcinoma, no ICD-O subtype (morphologic abnormality) Choriocarcinoma, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3594][accessDate: 05-04-2011] Chorioepithelioma Chorioepithelioma NOS Chorioepithelioma NOS[accessedResource: DOID:3594][accessDate: 05-04-2011] DOID:3594 NCIt:C2948 chorioblastoma chorioblastoma[accessedResource: NCIt:C2948][accessDate: 05-04-2011] chorioepithelioma[accessedResource: DOID:3594][accessDate: 05-04-2011] chorionic carcinoma chorionic carcinoma[accessedResource: NCIt:C2948][accessDate: 05-04-2011] amelanotic skin melanoma Amelanotic Malignant Melanoma (of Skin) Amelanotic Malignant Melanoma (of Skin)[accessedResource: NCIt:C4633][accessDate: 05-04-2011] Amelanotic Malignant Melanoma of Skin Amelanotic Malignant Melanoma of Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011] Amelanotic Malignant Melanoma of the Skin Amelanotic Malignant Melanoma of the Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011] Amelanotic Malignant Skin Melanoma Amelanotic Malignant Skin Melanoma[accessedResource: NCIt:C4633][accessDate: 05-04-2011] Amelanotic Melanoma of Skin Amelanotic Melanoma of Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011] Amelanotic Melanoma of the Skin Amelanotic Melanoma of the Skin[accessedResource: NCIt:C4633][accessDate: 05-04-2011] NCIt:C4633 MKN7 BTO:0002382 Ele Holloway JCRB1025 James Malone MKN-7 MKN-7 cell MKN-7 cell[accessedResource: BTO:0002382][accessDate: 05-04-2011] MKN7 cell Well differentiated human gastric adenocarcinoma cell line. Well differentiated human gastric adenocarcinoma cell line.[accessedResource: BTO:0002382][accessDate: 05-04-2011] microRNA profiling by high throughput sequencing An assay in which high throughput sequencing technology is used to analyse the microRNA component of the transcriptome. James Malone Natalja Kurbatova MicroRNA profiling by sequencing gram per kilogram James Malone g/kg true gram per meter squared James Malone g/m^2 gram per metre squared gram per square meter microgram per kilogram ug/kg micromole per kilogram James Malone umol/kg micromole per liter James Malone micromole per litre umol/L milligram per kilogram James Malone mg/kg weight percent whole organism population growth assay A population growth assay is an assay that measures the multiplication or reproduction of cells, resulting in the rapid expansion of a cell population. Flora Logan James Malone cell proliferation assay growth assay motility assay A motility assay is an assay which measures the controlled movement of a population of cells. Flora Logan James Malone microscopy assay A microscopy assay is an assay that provides images of molecules at various resolution depending on the technology used. Flora Logan James Malone characterization of functional areas of human genome Cutaneous T-cell lymphoma CTCL uterine sarcoma obsolete_rectal carcinoma 2.6.1 Use http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma true esophageal carcinoma Cancer of Esophagus Cancer of Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011] Cancer of the Esophagus Cancer of the Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011] Cancer, Esophageal Cancer, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011] Cancer, Esophagus Cancer, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011] Cancers, Esophageal Cancers, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011] Cancers, Esophagus Cancers, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011] ESOPHAGEAL NEOPL ESOPHAGEAL NEOPL[accessedResource: MSH:D004938][accessDate: 05-04-2011] ESOPHAGUS NEOPL ESOPHAGUS NEOPL[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophageal Cancer Esophageal Cancer[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophageal Cancers Esophageal Cancers[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophageal Neoplasm Esophageal Neoplasm[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophageal Neoplasms Esophageal Neoplasms[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophagus Cancer Esophagus Cancer[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophagus Cancers Esophagus Cancers[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophagus Neoplasm Esophagus Neoplasm[accessedResource: MSH:D004938][accessDate: 05-04-2011] Esophagus Neoplasms Esophagus Neoplasms[accessedResource: MSH:D004938][accessDate: 05-04-2011] MSH:D004938 NEOPL ESOPHAGEAL NEOPL ESOPHAGEAL[accessedResource: MSH:D004938][accessDate: 05-04-2011] Neoplasm, Esophageal Neoplasm, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011] Neoplasm, Esophagus Neoplasm, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011] Neoplasms, Esophageal Neoplasms, Esophageal[accessedResource: MSH:D004938][accessDate: 05-04-2011] Neoplasms, Esophagus Neoplasms, Esophagus[accessedResource: MSH:D004938][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the ESOPHAGUS. Tumors or cancer of the ESOPHAGUS.[accessedResource: MSH:D004938][accessDate: 05-04-2011] true ovarian serous adenocarcinoma rhabdomyosarcoma uterine carcinoma vulva sarcoma vulvar carcinoma normal cell line obsolete_retinoblastoma A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma. A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.[accessedResource: NCIt:C7541][accessDate: 05-04-2011] NCIt:C7541 OMIM:180200 RB RB[accessedResource: NCIt:C7541][accessDate: 05-04-2011] Tomasz Adamusiak true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_122' instead. New Label : Retinoblastoma HapMap haplotype mapping ENCODE functional genome mapping ENCODE cell line International Unit IU IU[accessedResource: MO_1011][accessDate: 05-04-2011] James Malone Jon Ison MO_1011 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#IU http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#International_Unit_of_Biological_Activity International Unit per milliliter A unit of arbitrary substance concentration (biologic activity concentration) defined as the concentration of one international unit per one milliliter of system volume. http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#International_Unit_per_Milliliter microgram per kilogram per day http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Microgram_per_Kilogram_per_Day ug per kg per day milligram per kilogram per day MO_353 http://mged.sourceforge.net/ontologies/MGEDOntology.owl#mg_per_kg_per_day http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Microgram_per_Kilogram_per_Day mg_per_kg_per_day mg_per_kg_per_day[accessedResource: MO_353][accessDate: 05-04-2011] unit per kilogram U/kg http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Unit_per_Kilogram HapMap cell line Cell lines used in experiments under the HapMap Project lung cancer cell line Drosophila melanogaster cell line rat cell line lymphoma or leukaemia cell line hypopharyngeal carcinoma Carcinoma, predominantly squamous cell, arising from epithelial cells of the hypopharynx cancer of Hypopharynx carcinoma of the hypopharynx medulloblastoma A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1) A malignant neoplasm that may be classified either as a glioma or as a primitive neuroectodermal tumor of childhood (see NEUROECTODERMAL TUMOR, PRIMITIVE). The tumor occurs most frequently in the first decade of life with the most typical location being the cerebellar vermis. Histologic features include a high degree of cellularity, frequent mitotic figures, and a tendency for the cells to organize into sheets or form rosettes. Medulloblastoma have a high propensity to spread throughout the craniospinal intradural axis. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2060-1)[accessedResource: MSH:D008527][accessDate: 05-04-2011] A malignant, invasive embryonal neoplasm arising from the cerebellum. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, desmoplastic medulloblastoma, large cell medulloblastoma, and medulloblastoma with extensive nodularity and advanced neuronal differentiation. (from NCI Thesuarus) Adult Medulloblastoma Adult Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011] Adult Medulloblastomas Adult Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011] Arachnoidal Cerebellar Sarcoma, Circumscribed Arachnoidal Cerebellar Sarcoma, Circumscribed[accessedResource: MSH:D008527][accessDate: 05-04-2011] Childhood Medulloblastoma Childhood Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011] Childhood Medulloblastomas Childhood Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011] Desmoplastic Medulloblastoma Desmoplastic Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011] Desmoplastic Medulloblastomas Desmoplastic Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011] MSH:D008527 Medulloblastoma, Adult Medulloblastoma, Adult[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastoma, Childhood Medulloblastoma, Childhood[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastoma, Desmoplastic Medulloblastoma, Desmoplastic[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastoma, Melanocytic Medulloblastoma, Melanocytic[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastomas Medulloblastomas, Adult Medulloblastomas, Adult[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastomas, Childhood Medulloblastomas, Childhood[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastomas, Desmoplastic Medulloblastomas, Desmoplastic[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastomas, Melanocytic Medulloblastomas, Melanocytic[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medullomyoblastoma Medullomyoblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011] Medullomyoblastomas Medullomyoblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011] Melanocytic Medulloblastoma Melanocytic Medulloblastoma[accessedResource: MSH:D008527][accessDate: 05-04-2011] Melanocytic Medulloblastomas Melanocytic Medulloblastomas[accessedResource: MSH:D008527][accessDate: 05-04-2011] OMIM:155255 Sarcoma, Cerebellar, Circumscribed Arachnoidal Sarcoma, Cerebellar, Circumscribed Arachnoidal[accessedResource: MSH:D008527][accessDate: 05-04-2011] Tomasz Adamusiak zebrafish cell line transcription profiling by SAGE An assay in which the transcriptome of a biological sample is analysed by serial analysis of gene expression (SAGE) Anna Farne SAGE transcription profiling by MPSS An assay in which the transcriptome of a biological sample is analysed by Massively Parallel Signature Sequencing (MPSS) Anna Farne MPSS transcription profiling by RT-PCR An assay in which the transcriptome of a biological sample is analysed by reverse transcription PCR (RT-PCR) Anna Farne RT=PCR nucleic acid extraction protocol A protocol description in which a material separation to recover the nucleic acid fraction of an input material is performed James Malone familial cardiomyopathy Familial cardiomyopathy (disorder) Familial cardiomyopathy (disorder)[accessedResource: SNOMEDCT:35728003][accessDate: 05-04-2011] OMIM:115200 Primary familial cardiomyopathy Primary familial cardiomyopathy[accessedResource: SNOMEDCT:35728003][accessDate: 05-04-2011] SNOMEDCT:35728003 Tomasz Adamusiak obsolete_alpha-1-antitrypsin deficiency A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales. A lung disease that is characterized as a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Alpha-1 antitrypsin works to protect the lungs from a naturally occuring destructive enzyme that is produced by the lungs in response to infections and toxins (such as cigarette smoke). Without enough A1AT, these enzymes slowly destroy the lung tissue causing emphysema. The symptoms include shortness of breath, wheezing, rhonchi, and rales.[accessedResource: DOID:13372][accessDate: 05-04-2011] AAT deficiency AAT deficiency[accessedResource: DOID:13372][accessDate: 05-04-2011] ALPHA-1-ANTITRYPSIN DEF ALPHA-1-ANTITRYPSIN DEF[accessedResource: ICD9:273.4][accessDate: 05-04-2011] Alpha-1-antitrypsin deficiency (disorder) Alpha-1-antitrypsin deficiency (disorder)[accessedResource: SNOMEDCT:154771007][accessDate: 05-04-2011] DOID:13372 ICD9:273.4 OMIM:613490 SNOMEDCT:154771007 Tomasz Adamusiak alpha 1-antitrypsin deficiency alpha 1-antitrypsin deficiency[accessedResource: DOID:13372][accessDate: 05-04-2011] 2.32 use 'http://www.orphanet.org/rdfns#pat_id_194' instead. New Label : Alpha-1 antitrypsin deficiency true parous James Malone The quality of an organism that has successful reproduced. postnatal NCIt:C81317 The stage of the mother from immediately after the birth of offspring and extending for about six weeks The time period after birth. The time period after birth.[accessedResource: NCIt:C81317][accessDate: 05-04-2011] pregnancy Gestation Gestation[accessedResource: MSH:D011247][accessDate: 05-04-2011] MSH:D011247 NCIt:C25742 PREGN PREGN[accessedResource: MSH:D011247][accessDate: 05-04-2011] Pregnancies Pregnancies[accessedResource: MSH:D011247][accessDate: 05-04-2011] The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth. The state or condition of having a developing embryo or fetus in the body (uterus), after union of an ovum and spermatozoon, during the period from conception to birth.[accessedResource: NCIt:C25742][accessDate: 05-04-2011] The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.[accessedResource: MSH:D011247][accessDate: 05-04-2011] Tomasz Adamusiak virgin The quality of an organism that has never been sexually active. differentiated A property of a cell which is no longer pluripotent reproductive system cell musculo-skeletal system cell 2102Ep 2102ep is an embryonal cell line experimental cell Helen Parkinson experimental cell is a cell which is experimentally derived such as a cell line cell, or a cell differentiated in culture. Experimentally derived cells may have diffrent properties from the cell from which they originally derived, such as through gene expression changes. experimentally derived cell NTera2 A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation BG03 A human embryonic stem cell line NTera2 derived dopaminergic neuronal like cells A human embryonal carcinoma (EC) stem cell line used as a model system for the study of neuronal differentiation and differentiated into neuronal like cells animal reproductive system cell nervous system cell pancreatic cell pluripotent A property of a cell which is able to differentiate into into one or more differentiated cell types embryonic stem cell derived neuronal stem cell ES derived NSC neural stem cells experimentally derived from ES cells obsolete_endocrine system Body System, Endocrine/Metabolic Body System, Endocrine/Metabolic[accessedResource: NCIt:C12705][accessDate: 05-04-2011] Collective designation for those tissues capable of secreting hormones. Collective designation for those tissues capable of secreting hormones.[accessedResource: NCIt:C12705][accessDate: 05-04-2011] Endocrine system (all sites) Endocrine system (all sites)[accessedResource: NCIt:C12705][accessDate: 05-04-2011] Endocrine/Metabolic Body System Endocrine/Metabolic Body System[accessedResource: NCIt:C12705][accessDate: 05-04-2011] Endocrine/Metabolic Organ System Endocrine/Metabolic Organ System[accessedResource: NCIt:C12705][accessDate: 05-04-2011] FMAID:9668 Hormonal System Hormonal System[accessedResource: NCIt:C12705][accessDate: 05-04-2011] Metabolic/Endocrine Body System Metabolic/Endocrine Body System[accessedResource: NCIt:C12705][accessDate: 05-04-2011] NCIt:C12705 Organ System, Endocrine/Metabolic Organ System, Endocrine/Metabolic[accessedResource: NCIt:C12705][accessDate: 05-04-2011] Systema endocrinum Systema endocrinum[accessedResource: FMAID:9668][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000949 label: endocrine system true 2.38 muscular disease A muscular disease in which the muscle fibers do not function resulting in muscular weakness. A muscular disease in which the muscle fibers do not function resulting in muscular weakness.[accessedResource: DOID:423][accessDate: 05-04-2011] Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.[accessedResource: MSH:D009135][accessDate: 05-04-2011] DOID:423 MSH:D009135 MUSCLE DIS MUSCLE DIS[accessedResource: MSH:D009135][accessDate: 05-04-2011] MUSCULAR DIS MUSCULAR DIS[accessedResource: MSH:D009135][accessDate: 05-04-2011] Muscle Disorder Muscle Disorder[accessedResource: MSH:D009135][accessDate: 05-04-2011] Muscle Disorders Muscle Disorders[accessedResource: MSH:D009135][accessDate: 05-04-2011] Muscular Diseases Muscular Diseases[accessedResource: MSH:D009135][accessDate: 05-04-2011] Myopathic Condition Myopathic Condition[accessedResource: MSH:D009135][accessDate: 05-04-2011] Myopathic Conditions Myopathic Conditions[accessedResource: MSH:D009135][accessDate: 05-04-2011] Myopathies[accessedResource: MSH:D009135][accessDate: 05-04-2011] Myopathy is a peripheral nervous system disease consisting of any abnormal condition or disease of the muscular tissues; commonly designates a disorder involving skeletal muscle. Tomasz Adamusiak myopathy[accessedResource: DOID:423][accessDate: 05-04-2011] ILSXISS#/Tej PMID:15457343 The ILSXISS#/Tej recombinant inbred (RI) strains originate from crosses between ILS/IbgTejJ (009324) and ISS/IbgTejJ (009325) They may be used to study the genetics of neurogenetic, neuropharmacological and behavioral phenotypes involved in alcohol-related traits and complex or potentially complex physiologic phenotypes (including differences in longevity under ad libitum and dietary restriction conditions, aging, body temperature and body weight). Tomasz Adamusiak http://jaxmice.jax.org/strain/009257.html ILSXISS3/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009257.html ILSXISS7/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009259.html ILSXISS13/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009260.html ILSXISS14/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009261.html ILSXISS16/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009262.html ILSXISS19/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009263.html ILSXISS22/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009264.html ILSXISS23/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009265.html ILSXISS24/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009300.html ILSXISS25/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009301.html ILSXISS26/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009302.html ILSXISS41/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009268.html ILSXISS48/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009270.html ILSXISS49/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009271.html ILSXISS50/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009309.html ILSXISS51/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009272.html ILSXISS52/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009273.html ILSXISS56/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009310.html ILSXISS62/TejJ Tomasz Adamusiak ILSXISS66/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009275.html ILSXISS79/TejJ Tomasz Adamusiak ILSXISS80/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009316.html ILSXISS84/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009317.html ILSXISS86/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009280.html ILSXISS89/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009281.html ILSXISS90/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009282.html ILSXISS92/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009283.html ILSXISS94/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009284.html ILSXISS97/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009285.html ILSXISS98/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009321.html ILSXISS99/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009286.html ILSXISS100/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009287.html ILSXISS103/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009289.html ILSXISS107/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009290.html ILSXISS110/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009291.html ILSXISS112/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009323.html ILSXISS114/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009292.html ILSXISS115/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009293.html ILSXISS117/TejJ Tomasz Adamusiak ILSXISS122/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009294.html ILSXISS123/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009295.html Mus musculus subspecies Helen Parkinson breast fibrocystic disease Helen Parkinson breast fibrocystic disease is a benign mammary displasia characterised by breast discomfort and 'lumpiness' diffuse cystic mastopathy fibrocystic disease of breast aggressive behavior Agressive behaviour is the process of engaging on hostile, affective, or retaliatory aggression and instrumental, predatory, or goal-oriented aggression towards other individuals. Helen Parkinson aggression aggressive behaviour collecting duct carcinoma Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor. Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor.[accessedResource: NCIt:C6194][accessDate: 05-04-2011] BDC BDC[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Bellini Duct Carcinoma Bellini duct carcinoma[accessedResource: SNOMEDCT:128669006][accessDate: 05-04-2011] Carcinoma of Collecting Ducts of Bellini Carcinoma of Collecting Ducts of Bellini[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Carcinoma of Kidney Collecting Duct Carcinoma of Kidney Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Carcinoma of Renal Collecting Duct Carcinoma of Renal Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Carcinoma of the Collecting Ducts of Bellini Carcinoma of the Collecting Ducts of Bellini[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Carcinoma of the Kidney Collecting Duct Carcinoma of the Kidney Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Carcinoma of the Renal Collecting Duct Carcinoma of the Renal Collecting Duct[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Collecting duct carcinoma (morphologic abnormality) Collecting duct carcinoma (morphologic abnormality)[accessedResource: SNOMEDCT:128669006][accessDate: 05-04-2011] Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body). Collecting duct carcinoma is a renal cell carcinoma described as a rare and aggressive type of renal cell carcinoma. The cancerous cells form irregular tubes inside the tumor. Collecting duct carcinoma is more common among young people and unfortunately is diagnosed in most cases when the cancer has metastasized (spread inside the body).[accessedResource: DOID:4464][accessDate: 05-04-2011] DOID:4464 Kidney Collecting Duct Carcinoma Kidney Collecting Duct Carcinoma[accessedResource: NCIt:C6194][accessDate: 05-04-2011] NCIt:C6194 Renal Collecting Duct Carcinoma Renal Collecting Duct Carcinoma[accessedResource: NCIt:C6194][accessDate: 05-04-2011] Renal carcinoma, collecting duct type Renal carcinoma, collecting duct type[accessedResource: SNOMEDCT:128669006][accessDate: 05-04-2011] SNOMEDCT:128669006 Tomasz Adamusiak renal Medullary carcinoma renal Medullary carcinoma[accessedResource: DOID:4464][accessDate: 05-04-2011] transitional cell carcinoma of kidney DOID:6844 NCIt:C7355 Renal Pelvis Transitional Cell Carcinoma Renal Pelvis Transitional Cell Carcinoma[accessedResource: NCIt:C7355][accessDate: 05-04-2011] Renal Pelvis Urothelial Carcinoma Renal Pelvis Urothelial Carcinoma[accessedResource: NCIt:C7355][accessDate: 05-04-2011] SNOMEDCT:408642003 Tomasz Adamusiak Transitional Cell Carcinoma of Renal Pelvis Transitional Cell Carcinoma of Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011] Transitional Cell Carcinoma of the Renal Pelvis Transitional Cell Carcinoma of the Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011] Transitional cell carcinoma of kidney (disorder) Transitional cell carcinoma of kidney (disorder)[accessedResource: SNOMEDCT:408642003][accessDate: 05-04-2011] Urothelial Cell Carcinoma of Renal Pelvis Urothelial Cell Carcinoma of Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011] Urothelial Cell Carcinoma of the Renal Pelvis Urothelial Cell Carcinoma of the Renal Pelvis[accessedResource: NCIt:C7355][accessDate: 05-04-2011] sarcomatoid transitional cell carcinoma of renal Pelvis sarcomatoid transitional cell carcinoma of renal Pelvis[accessedResource: DOID:6844][accessDate: 05-04-2011] sarcomatoid transitional cell carcinoma of the kidney pelvis sarcomatoid transitional cell carcinoma of the kidney pelvis[accessedResource: DOID:6844][accessDate: 05-04-2011] ILSXISS28/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009266.html ILSXISS46/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009269.html ILSXISS60/TejJ Tomasz Adamusiak http://jaxmice.jax.org/strain/009311.html interferon alpha OMIM:147583 Tomasz Adamusiak interferon alpha 2a Tomasz Adamusiak interferon beta Tomasz Adamusiak interferon gamma Tomasz Adamusiak acute megakaryoblastic leukaemia DOID:876 Tomasz Adamusiak Tropical pyomyositis Tropical pyomyositis (disorder) Tropical pyomyositis [dup] (disorder) Tropical pyomyositis[accessedResource: DOID:876][accessDate: 05-04-2011] pyomyositis pyomyositis[accessedResource: DOID:876][accessDate: 05-04-2011] minimally differentiated acute myeloblastic leukemia AML with Minimal Differentiation AML with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] Acute Myeloblastic Leukemia with Minimal Differentiation Acute Myeloblastic Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] Acute Myeloblastic Leukemia, Minimally Differentiated Acute Myeloblastic Leukemia, Minimally Differentiated[accessedResource: NCIt:C8460][accessDate: 05-04-2011] Acute Myelocytic Leukemia with Minimal Differentiation Acute Myelocytic Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] Acute Myelogenous Leukemia with Minimal Differentiation Acute Myelogenous Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] Acute Myeloid Leukemia with Minimal Differentiation Acute Myeloid Leukemia with Minimal Differentiation (MO) Acute Myeloid Leukemia with Minimal Differentiation (MO)[accessedResource: NCIt:C8460][accessDate: 05-04-2011] Acute Myeloid Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] Acute Myeloid Leukemia, Minimally Differentiated Acute Myeloid Leukemia, Minimally Differentiated[accessedResource: NCIt:C8460][accessDate: 05-04-2011] An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies. The patients present with anemia, neutropenia, and thrombocytopenia. The prognosis is usually poor. (WHO, 2001) An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. The myeloid origin of the blasts is demonstrated by immunohistochemistry and/or electron microscopic studies. The patients present with anemia, neutropenia, and thrombocytopenia. The prognosis is usually poor. (WHO, 2001)[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Acute Granulocytic Leukemia M0 Acute Granulocytic Leukemia with Minimal Differentiation M0 Acute Granulocytic Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Acute Granulocytic Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Acute Myeloblastic Leukemia M0 Acute Myeloblastic Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Acute Myelocytic Leukemia M0 Acute Myelocytic Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Acute Myelogenous Leukemia M0 Acute Myelogenous Leukemia with Minimal Differentiation M0 Acute Myelogenous Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Acute Myelogenous Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Myeloid Leukemia M0 Myeloid Leukemia with Minimal Differentiation M0 Myeloid Leukemia with Minimal Differentiation[accessedResource: NCIt:C8460][accessDate: 05-04-2011] M0 Myeloid Leukemia[accessedResource: NCIt:C8460][accessDate: 05-04-2011] NCIt:C8460 Tomasz Adamusiak minimally differentiated AML acute myeloblastic leukemia without maturation AML without Maturation AML without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] Acute Granulocytic Leukemia without Maturation Acute Granulocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] Acute M1 Myeloid Leukemia Acute M1 Myeloid Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011] Acute Myelocytic Leukemia without Maturation Acute Myelocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] Acute Myelogenous Leukemia without Maturation Acute Myelogenous Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] Acute Myeloid Leukemia without Maturation Acute Myeloid Leukemia without Maturation (FAB M1) Acute Myeloid Leukemia without Maturation (FAB M1)[accessedResource: NCIt:C3249][accessDate: 05-04-2011] Acute Myeloid Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. The patients present with anemia, neutropenia, and thrombocytopenia. This type of AML usually follows an aggressive clinical course. (WHO, 2001) An acute myeloid leukemia (AML) characterized by blasts without evidence of maturation to more mature neutrophils. The patients present with anemia, neutropenia, and thrombocytopenia. This type of AML usually follows an aggressive clinical course. (WHO, 2001)[accessedResource: NCIt:C3249][accessDate: 05-04-2011] FAB M1 FAB M1[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Granulocytic Leukemia M1 Acute Granulocytic Leukemia without Maturation M1 Acute Granulocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Granulocytic Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myeloblastic Leukemia M1 Acute Myeloblastic Leukemia without Maturation M1 Acute Myeloblastic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myeloblastic Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myelocytic Leukemia M1 Acute Myelocytic Leukemia without Maturation M1 Acute Myelocytic Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myelocytic Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myelogenous Leukemia M1 Acute Myelogenous Leukemia without Maturation M1 Acute Myelogenous Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myelogenous Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myeloid Leukemia M1 Acute Myeloid Leukemia without Maturation M1 Acute Myeloid Leukemia without Maturation[accessedResource: NCIt:C3249][accessDate: 05-04-2011] M1 Acute Myeloid Leukemia[accessedResource: NCIt:C3249][accessDate: 05-04-2011] NCIt:C3249 Tomasz Adamusiak acute myeloblastic leukemia with maturation AML with Maturation AML with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] Acute M2 Myeloid Leukemia Acute M2 Myeloid Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011] Acute Myelocytic Leukemia with Maturation Acute Myelocytic Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] Acute Myelogenous Leukemia with Maturation Acute Myelogenous Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] Acute Myeloid Leukemia (AML-M2) Acute Myeloid Leukemia (AML-M2)[accessedResource: NCIt:C3250][accessDate: 05-04-2011] Acute Myeloid Leukemia with Maturation Acute Myeloid Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001) An acute myeloid leukemia (AML) characterized by blasts with evidence of maturation to more mature neutrophils. Patients often present with anemia, neutropenia, and thrombocytopenia. AML with the t(8;21) is usually AML with maturation. This type of AML frequently responds to aggressive therapy. (WHO, 2001)[accessedResource: NCIt:C3250][accessDate: 05-04-2011] FAB M2 FAB M2[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Granulocytic Leukemia M2 Acute Granulocytic Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Myeloblastic Leukemia M2 Acute Myeloblastic Leukemia with Maturation M2 Acute Myeloblastic Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Myeloblastic Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Myelocytic Leukemia with Maturation M2 Acute Myelocytic Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Myelogenous Leukemia M2 Acute Myelogenous Leukemia with Maturation M2 Acute Myelogenous Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Myelogenous Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Myeloid Leukemia M2 Acute Myeloid Leukemia with Maturation M2 Acute Myeloid Leukemia with Maturation[accessedResource: NCIt:C3250][accessDate: 05-04-2011] M2 Acute Myeloid Leukemia[accessedResource: NCIt:C3250][accessDate: 05-04-2011] NCIt:C3250 Tomasz Adamusiak acute basophilic leukemia An acute myeloid leukemia in which the immature cells differentiate towards basophils. This is a rare leukemia. The observed cases have been associated with a poor prognosis. The term basophilic leukemia is used as a synonym for acute basophilic leukemia. Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia. (WHO, 2001) An acute myeloid leukemia in which the immature cells differentiate towards basophils. This is a rare leukemia. The observed cases have been associated with a poor prognosis. The term basophilic leukemia is used as a synonym for acute basophilic leukemia. Chronic basophilic leukemia is an inappropriate term vaguely connected to the term mast cell leukemia. (WHO, 2001)[accessedResource: NCIt:C3164][accessDate: 05-04-2011] Basophilic Leukemia Basophilic Leukemia[accessedResource: NCIt:C3164][accessDate: 05-04-2011] Leukemia Basophilic Leukemia Basophilic[accessedResource: NCIt:C3164][accessDate: 05-04-2011] NCIt:C3164 Tomasz Adamusiak abscess NCIt:C26686 Tomasz Adamusiak abscess (disorder) abscess NOS abscess NOS (disorder) abscess morphology anaplastic large cell lymphoma ICD9:200.6 Tomasz Adamusiak bacteriemia Bacteremia (disorder) Bacteremia NOS (disorder) Bacteremia, NOS DOID:2294 Tomasz Adamusiak Unspecified bacteraemia Unspecified bacteremia Unspecified bacteremia (context-dependent category) bacteremia cellulitis Bacteremia (disorder) Bacteremia NOS (disorder) Bacteremia, NOS DOID:2294 Tomasz Adamusiak Unspecified bacteraemia Unspecified bacteremia Unspecified bacteremia (context-dependent category) bacteremia clear cell A cell with empty-appearing cytoplasm when viewed with a light microscope. A cell with empty-appearing cytoplasm when viewed with a light microscope.[accessedResource: NCIt:C12478][accessDate: 05-04-2011] Clear Cells Clear Cells[accessedResource: NCIt:C12478][accessDate: 05-04-2011] NCIt:C12478 Tomasz Adamusiak CMK MCC:0000105 Tomasz Adamusiak obsolete_colon mucosa BTO:0000271 Tomasz Adamusiak colonic mucosa colonic mucosa[accessedResource: BTO:0000271][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0000317 label: colonic mucosa EAhy 926 cell BTO:0000396 EA.hy926 cell The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy. The EAhy 926 cell is a hybridoma line derived from human endothelium and A549/8 cells. They display stable endothelial characteristics and may provide an indication of how endothelial cells respond to photodynamic therapy.[accessedResource: BTO:0000396][accessDate: 05-04-2011] Tomasz Adamusiak embryonic cell line BTO:0000669 Tomasz Adamusiak esophageal epithelium NCIt:C49221 Tomasz Adamusiak H1-hESC H1 H1 human embryonic stem cell line, usually called H1-hESC and on occasion just H1 PMID:18564034 Tomasz Adamusiak NCI-H1299 MCC:0000352 Tomasz Adamusiak NCI-H460 MCC:0000356 Tomasz Adamusiak H9 PMID:18564034 Tomasz Adamusiak heart transplant rejection MedDRA:10019315 Tomasz Adamusiak hepatitis C infection A Hepacivirus infectious disease and is_a viral hepatitis that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. A Hepacivirus infectious disease and is_a viral hepatitis that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.[accessedResource: DOID:1883][accessDate: 05-04-2011] A Hepacivirus infectious disease which is a chronic bloodborne infectious disease caused by Hepatitis C virus. The symptoms include fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain and jaundice. A viral hepatitis and is_a Hepacivirus infectious disease, that results_in inflammation located_in liver, has_agent Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. DOID:1883 Hepatitis C (disorder) Hepatitis non-A non-B (disorder) MSH:D006526 NANBH NANBH[accessedResource: DOID:1883][accessDate: 05-04-2011] Tomasz Adamusiak Viral hepatitis C Viral hepatitis C (disorder) acute hepatitis C with hepatic coma chronic hepatitis C[accessedResource: DOID:1883][accessDate: 05-04-2011] hepatitis nonA nonB hepatitis nonA nonB[accessedResource: DOID:1883][accessDate: 05-04-2011] true HES2 HES-2 PMID:10748519 Tomasz Adamusiak obsolete_ilium Iliac Iliac[accessedResource: NCIt:C32765][accessDate: 05-04-2011] NCIt:C32765 The broad, dorsal, upper, and widest of the three principal bones composing either half of the pelvis. The broad, dorsal, upper, and widest of the three principal bones composing either half of the pelvis.[accessedResource: NCIt:C32765][accessDate: 05-04-2011] Tomasz Adamusiak true Use http://purl.obolibrary.org/obo/UBERON_0001273 label: ilium 2.38 large cell lung carcinoma A malignant epithelial neoplasm composed of large, atypical cells. A malignant epithelial neoplasm composed of large, atypical cells.[accessedResource: NCIt:C3780][accessDate: 05-04-2011] Carcinoma, Large Cell Carcinoma, Large Cell[accessedResource: NCIt:C3780][accessDate: 05-04-2011] Large Cell Carcinoma Large Cell Carcinoma[accessedResource: NCIt:C3780][accessDate: 05-04-2011] NCIt:C3780 Tomasz Adamusiak large cell carcinomas large cell carcinomas[accessedResource: NCIt:C3780][accessDate: 05-04-2011] calf Calf of leg Calf of leg[accessedResource: FMAID:24984][accessDate: 05-04-2011] FMAID:24984 Posterior curral region Posterior curral region[accessedResource: FMAID:24984][accessDate: 05-04-2011] Posterior leg region Posterior leg region[accessedResource: FMAID:24984][accessDate: 05-04-2011] Posterior part of leg Posterior part of leg[accessedResource: FMAID:24984][accessDate: 05-04-2011] Posterior region of leg Posterior region of leg[accessedResource: FMAID:24984][accessDate: 05-04-2011] Sural region Sural region[accessedResource: FMAID:24984][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_fibula FMAID:24479 Tomasz Adamusiak 2.38 Use http://purl.obolibrary.org/obo/UBERON_0001446 label: fibula true forearm Antebrachial region Antebrachial region[accessedResource: FMAID:9663][accessDate: 05-04-2011] FMAID:9663 Intermediate segment of free upper limb Intermediate segment of free upper limb[accessedResource: FMAID:9663][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_tibia FMAID:24476 Tomasz Adamusiak true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0000979 label: tibia LP1 PMID:2784066 Tomasz Adamusiak lp-1 M14 BTO:0002805 M14 cell M14 cell[accessedResource: BTO:0002805][accessDate: 05-04-2011] The human melanoma cell line M14 has been established from surgically removed melanoma metastases. The human melanoma cell line M14 has been established from surgically removed melanoma metastases.[accessedResource: BTO:0002805][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_mediastinum A group of organs surrounded by loose connective tissue, separating the two pleural sacs, between the sternum anteriorly and the vertebral column posteriorly as well as from the thoracic inlet superiorly to the diaphragm inferiorly. The mediastinum contains the heart and pericardium, the bases of the great vessels, the trachea and bronchi, esophagus, thymus, lymph nodes, thoracic duct, phrenic and vagus nerves, and other structures and tissues. A group of organs surrounded by loose connective tissue, separating the two pleural sacs, between the sternum anteriorly and the vertebral column posteriorly as well as from the thoracic inlet superiorly to the diaphragm inferiorly. The mediastinum contains the heart and pericardium, the bases of the great vessels, the trachea and bronchi, esophagus, thymus, lymph nodes, thoracic duct, phrenic and vagus nerves, and other structures and tissues.[accessedResource: NCIt:C12748][accessDate: 05-04-2011] NCIt:C12748 Tomasz Adamusiak true Use http://purl.obolibrary.org/obo/UBERON_0003728 label: mediastinum 2.38 obsolete_NCIH460 2.7.1 MCC:0000356 Tomasz Adamusiak duplicate of EFO_0003044 true non-small cell lung carcinoma A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy. A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy.[accessedResource: MSH:D002289][accessDate: 05-04-2011] Carcinoma, Non Small Cell Lung Carcinoma, Non Small Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011] Carcinoma, Non-Small Cell Lung Carcinoma, Non-Small Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011] Carcinoma, Non-Small-Cell Lung Carcinoma, Non-Small-Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011] Carcinomas, Non-Small-Cell Lung Carcinomas, Non-Small-Cell Lung[accessedResource: MSH:D002289][accessDate: 05-04-2011] DOID:3908 Lung Carcinoma, Non-Small-Cell Lung Carcinoma, Non-Small-Cell[accessedResource: MSH:D002289][accessDate: 05-04-2011] Lung Carcinomas, Non-Small-Cell Lung Carcinomas, Non-Small-Cell[accessedResource: MSH:D002289][accessDate: 05-04-2011] MSH:D002289 NONSMALL CELL LUNG CARCINOMA NONSMALL CELL LUNG CARCINOMA[accessedResource: MSH:D002289][accessDate: 05-04-2011] NSCLC NSCLC[accessedResource: MSH:D002289][accessDate: 05-04-2011] Non Small Cell Lung Carcinoma Non Small Cell Lung Carcinoma[accessedResource: MSH:D002289][accessDate: 05-04-2011] Non-Small Cell Lung Cancer Non-Small Cell Lung Cancer[accessedResource: MSH:D002289][accessDate: 05-04-2011] Non-Small-Cell Lung Carcinoma Non-Small-Cell Lung Carcinoma[accessedResource: MSH:D002289][accessDate: 05-04-2011] Non-Small-Cell Lung Carcinomas Non-Small-Cell Lung Carcinomas[accessedResource: MSH:D002289][accessDate: 05-04-2011] Non-small cell lung cancer (disorder) Non-small cell lung cancer (disorder)[accessedResource: DOID:3908][accessDate: 05-04-2011] OMIM:211980 Tomasz Adamusiak true OVCAR3 MCC:0000363 Tomasz Adamusiak peroneal nerve Any one of the three (common, deep, and superficial) peroneal nerves. Any one of the three (common, deep, and superficial) peroneal nerves.[accessedResource: NCIt:C52814][accessDate: 05-04-2011] NCIt:C52814 Tomasz Adamusiak polymyositis DOID:10222 Polymyositis (disorder) Tomasz Adamusiak primary cell line Tomasz Adamusiak foot FMAID:9664 MSH:D005528 Terminal segment of free lower limb Terminal segment of free lower limb[accessedResource: FMAID:9664][accessDate: 05-04-2011] Tomasz Adamusiak true rib FMAID:7574 Tomasz Adamusiak latissimus dorsi FMAID:13357 Tomasz Adamusiak obsolete_shoulder FMAID:25202 Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0001467 label: shoulder true 2.38 obsolete_elbow Cubital region Cubital region[accessedResource: FMAID:24901][accessDate: 05-04-2011] FMAID:24901 Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0001461 label: elbow 2.38 true buttock Clunis Clunis[accessedResource: FMAID:25245][accessDate: 05-04-2011] FMAID:25245 Gluteal part of pelvic girdle Gluteal part of pelvic girdle[accessedResource: FMAID:25245][accessDate: 05-04-2011] Gluteal region Gluteal region[accessedResource: FMAID:25245][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_sacrum FMAID:16202 Sacral bone Sacral bone[accessedResource: FMAID:16202][accessDate: 05-04-2011] Sacrum [sacral vertebrae I - V] Sacrum [sacral vertebrae I - V][accessedResource: FMAID:16202][accessDate: 05-04-2011] Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0003690 label: sacrum 2.38 true SK-N-SH MCC:0000430 SKNSH Tomasz Adamusiak James Malone http://www.atcc.org/products/all/HTB-11.aspx asymptomatic myeloma A plasma cell myeloma lacking clinical manifestations and organ impairment. A plasma cell myeloma lacking clinical manifestations and organ impairment.[accessedResource: NCIt:C7149][accessDate: 05-04-2011] Asymptomatic Plasma Cell Myeloma Asymptomatic Plasma Cell Myeloma[accessedResource: NCIt:C7149][accessDate: 05-04-2011] NCIt:C7149 Smoldering Myeloma[accessedResource: NCIt:C7149][accessDate: 05-04-2011] Smoldering Plasma Cell Myeloma Smoldering Plasma Cell Myeloma[accessedResource: NCIt:C7149][accessDate: 05-04-2011] Tomasz Adamusiak smoldering myeloma ES cell line Mikkelsen et al. (2007). Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448, 553-560 Mouse embryonic stem cell line xanthoma DOID:4573 Tomasz Adamusiak Xanthelasma Xanthomatous deposition (morphologic abnormality) thyrocyte An epithelial cell lining the thyroid follicle. An epithelial cell lining the thyroid follicle.[accessedResource: BTO:0003736][accessDate: 05-04-2011] BTO:0003736 Tomasz Adamusiak thyroid epithelial cell thyroid epithelial cell[accessedResource: BTO:0003736][accessDate: 05-04-2011] thyroid follicular cell trabecular meshwork A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH) A porelike structure surrounding the entire circumference of the anterior chamber through which aqueous humor circulates to the canal of Schlemm. (MeSH)[accessedResource: NCIt:C12803][accessDate: 05-04-2011] NCIt:C12803 Tomasz Adamusiak obsolete_yolk sac FMAID:87180 Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0001040 label: yolk sac 2.38 true obsolete_X-linked agammaglobulinemia A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. A B cell deficiency that is caused by a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.[accessedResource: DOID:14179][accessDate: 05-04-2011] BTK deficiency BTK deficiency[accessedResource: DOID:14179][accessDate: 05-04-2011] Bruton agammaglobulinemia tyrosine kinase deficiency Bruton agammaglobulinemia tyrosine kinase deficiency[accessedResource: DOID:14179][accessDate: 05-04-2011] Bruton's Sex-Linked Agammaglobulinemia Bruton's Sex-Linked Agammaglobulinemia[accessedResource: DOID:14179][accessDate: 05-04-2011] Bruton's X-Linked Agammaglobulinemia Bruton's X-Linked Agammaglobulinemia[accessedResource: NCIt:C3822][accessDate: 05-04-2011] Bruton's agammaglobulinaemia Bruton's agammaglobulinaemia[accessedResource: DOID:14179][accessDate: 05-04-2011] Bruton's type agammaglobulinemia Bruton's type agammaglobulinemia[accessedResource: DOID:14179][accessDate: 05-04-2011] Bruton-type agammaglobulinemia Bruton-type agammaglobulinemia[accessedResource: DOID:14179][accessDate: 05-04-2011] DOID:14179 NCIt:C3822 OMIM:300755 Tomasz Adamusiak X-linked agammaglobulinemia (disorder) X-linked agammaglobulinemia (disorder)[accessedResource: DOID:14179][accessDate: 05-04-2011] X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells. X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.[accessedResource: NCIt:C3822][accessDate: 05-04-2011] use 'http://www.orphanet.org/rdfns#pat_id_142' instead. New Label : X-linked agammaglobulinemia 2.32 true SK-MEL-28 MCC:0000426 Tomasz Adamusiak COLO205 MCC:0000107 Tomasz Adamusiak pleomorphic liposarcoma A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma. It is the rarest liposarcoma variant and usually has an aggressive clinical course. A liposarcoma with areas of pleomorphism, resembling malignant fibrous histiocytoma. It is the rarest liposarcoma variant and usually has an aggressive clinical course.[accessedResource: NCIt:C3705][accessDate: 05-04-2011] DOID:5702 Liposarcoma, Pleomorphic Liposarcomas, Pleomorphic NCIt:C3705 Pleomorphic Liposarcomas Pleomorphic liposarcoma (disorder) Pleomorphic liposarcoma (disorder)[accessedResource: DOID:5702][accessDate: 05-04-2011] Pleomorphic liposarcoma (morphologic abnormality) Pleomorphic liposarcoma (morphologic abnormality)[accessedResource: DOID:5702][accessDate: 05-04-2011] Tomasz Adamusiak round cell liposarcoma A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma. A poorly differentiated liposarcoma, characterized by the presence of solid sheets of primitive round mesenchymal cells and the absence of myxoid stroma.[accessedResource: NCIt:C4252][accessDate: 05-04-2011] Cellular Myxoid Liposarcoma Cellular Myxoid Liposarcoma[accessedResource: NCIt:C4252][accessDate: 05-04-2011] NCIt:C4252 Tomasz Adamusiak dedifferentiated liposarcoma A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component. The non-lipomatous component may be present in the primary lesion or at the site of metastasis. A liposarcoma of any histologic subtype mixed with a non-lipomatous, high grade sarcomatous component. The non-lipomatous component may be present in the primary lesion or at the site of metastasis.[accessedResource: NCIt:C3704][accessDate: 05-04-2011] DOID:5706 Dedifferentiated Liposarcomas Dedifferentiated liposarcoma (disorder) Dedifferentiated liposarcoma (morphologic abnormality) Liposarcoma, Dedifferentiated Liposarcomas, Dedifferentiated NCIt:C3704 Tomasz Adamusiak kidney disease A disease affecting the kidneys Helen Parkinson MSH:D007674 kidney diseases nephropathy renal system disease true atrial myocardium Tomasz Adamusiak UBERON:0002302 ventricular myocardium Tomasz Adamusiak UBERON:0001083 obsolete_spinocerebellar ataxia type 1 OMIM:164400 Tomasz Adamusiak true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_13772' instead. New Label : Spinocerebellar ataxia type 1 obsolete_spinocerebellar ataxia type 7 OMIM:164500 Tomasz Adamusiak use 'http://www.orphanet.org/rdfns#pat_id_12567' instead. New Label : Spinocerebellar ataxia type 7 2.32 true obsolete_spinocerebellar ataxia type 17 OMIM:607136 Tomasz Adamusiak use 'http://www.orphanet.org/rdfns#pat_id_13776' instead. New Label : Spinocerebellar ataxia type 17 2.32 true obsolete_neurofibromatosis Acoustic neurofibromatosis Acoustic neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011] An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas. An autosomal dominant hereditary neoplastic syndrome. Two distinct clinicopathological entities are recognized: neurofibromatosis type 1 and neurofibromatosis type 2. Neurofibromatosis type 1 is associated with the presence of cafe-au-lait cutaneous lesions, multiple neurofibromas, malignant peripheral nerve sheath tumors, optic nerve gliomas, and bone lesions. Neurofibromatosis type 2 is associated with the presence of schwannomas, meningiomas, and gliomas.[accessedResource: NCIt:C6727][accessDate: 05-04-2011] DOID:8712 NCIt:C6727 Neurofibromatosis (morphologic abnormality) Neurofibromatosis 1 Neurofibromatosis 1[accessedResource: DOID:8712][accessDate: 05-04-2011] Neurofibromatosis syndrome (disorder) OMIM:162200 Recklinghausen's neurofibromatosis Recklinghausen's neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011] Tomasz Adamusiak central Neurofibromatosis central Neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011] neurofibromatosis type 1 neurofibromatosis type 1[accessedResource: DOID:8712][accessDate: 05-04-2011] neurofibromatosis type 2 neurofibromatosis type 2[accessedResource: DOID:8712][accessDate: 05-04-2011] neurofibromatosis type 4 neurofibromatosis type 4[accessedResource: DOID:8712][accessDate: 05-04-2011] neurofibromatosis type IV neurofibromatosis type IV [accessedResource: DOID:8712][accessDate: 05-04-2011] peripheral Neurofibromatosis peripheral Neurofibromatosis[accessedResource: DOID:8712][accessDate: 05-04-2011] type IV neurofibromatosis of riccardi type IV neurofibromatosis of riccardi[accessedResource: DOID:8712][accessDate: 05-04-2011] von Reklinghausen disease von Reklinghausen disease[accessedResource: DOID:8712][accessDate: 05-04-2011] 2.32 use 'http://www.orphanet.org/rdfns#pat_id_10528' instead. New Label : Neurofibromatosis true adrenocortical carcinoma Adrenal cortical carcinoma (morphologic abnormality) Adrenal cortical carcinoma (morphologic abnormality)[accessedResource: DOID:3948][accessDate: 05-04-2011] An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland. An adrenal carcinoma that forms in the outer layer of tissue of the adrenal gland.[accessedResource: DOID:3948][accessDate: 05-04-2011] DOID:3948 Tomasz Adamusiak carcinoma of the Adrenal cortex carcinoma of the Adrenal cortex[accessedResource: DOID:3948][accessDate: 05-04-2011] ganglioglioma DOID:5078 Tomasz Adamusiak ganglioglioma, no ICD-O subtype ganglioglioma, no ICD-O subtype[accessedResource: DOID:5078][accessDate: 05-04-2011] non-alcoholic fatty liver disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.[accessedResource: NCIt:C84444][accessDate: 05-04-2011] MSH:C541083 NAFLD - Nonalcoholic Fatty Liver Disease NAFLD - Nonalcoholic Fatty Liver Disease[accessedResource: NCIt:C84444][accessDate: 05-04-2011] NCIt:C84444 Nonalcoholic Fatty Liver Disease Nonalcoholic Fatty Liver Disease[accessedResource: NCIt:C84444][accessDate: 05-04-2011] Tomasz Adamusiak true Pick disease A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies. A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.[accessedResource: NCIt:C85008][accessDate: 05-04-2011] DOID:11870 Dementia in Pick's disease (disorder) Dementia in Pick's disease (disorder)[accessedResource: DOID:11870][accessDate: 05-04-2011] LOBAR ATROPHY OF BRAIN LOBAR ATROPHY OF BRAIN[accessedResource: DOID:11870][accessDate: 05-04-2011] MSH:D020774 NCIt:C85008 OMIM:172700 PICK DISEASE OF BRAIN PICK DISEASE OF BRAIN[accessedResource: DOID:11870][accessDate: 05-04-2011] Pick's disease Pick's disease (disorder) Pick's disease (disorder)[accessedResource: DOID:11870][accessDate: 05-04-2011] Pick's disease[accessedResource: DOID:11870][accessDate: 05-04-2011] Tomasz Adamusiak frontotemporal lobar degeneration true empyema NCIt:C34572 Tomasz Adamusiak obsolete_meningioma A tumor of meningothelial cells that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges. A tumor of meningothelial cells that are manifested in the central nervous system and arise from the arachnoid "cap" cells of the arachnoid villi in the meninges.[accessedResource: DOID:3565][accessDate: 05-04-2011] DOID:3565 MSH:D008579 Tomasz Adamusiak meningioma NOS meningioma NOS (morphologic abnormality) meningioma NOS (morphologic abnormality)[accessedResource: DOID:3565][accessDate: 05-04-2011] meningioma NOS[accessedResource: DOID:3565][accessDate: 05-04-2011] meningioma, benign, no ICD-O subtype (morphologic abnormality) meningioma, benign, no ICD-O subtype (morphologic abnormality)[accessedResource: DOID:3565][accessDate: 05-04-2011] meningiomas (morphologic abnormality) meningiomas (morphologic abnormality)[accessedResource: DOID:3565][accessDate: 05-04-2011] true use 'http://www.orphanet.org/rdfns#pat_id_1030' instead. New Label : Meningioma true 2.32 Cushing syndrome Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland. Cushing syndrome is a endocrine syndrome caused by overactivity of the adrenal cortex caused by a tumor of the pituitary gland.[accessedResource: DOID:12252][accessDate: 05-04-2011] Cushing's syndrome Cushing's syndrome NOS Cushing's syndrome NOS (disorder) Cushing's syndrome NOS (disorder)[accessedResource: DOID:12252][accessDate: 05-04-2011] Cushing's syndrome NOS[accessedResource: DOID:12252][accessDate: 05-04-2011] Cushing's syndrome[accessedResource: DOID:12252][accessDate: 05-04-2011] DOID:12252 Suprarenogenic syndrome Suprarenogenic syndrome[accessedResource: DOID:12252][accessDate: 05-04-2011] Tomasz Adamusiak hypercorticism pituitary basophilism pituitary basophilism[accessedResource: DOID:12252][accessDate: 05-04-2011] peripheral neuropathy Tomasz Adamusiak testicular seminoma A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.[accessedResource: NCIt:C7328][accessDate: 05-04-2011] NCIt:C7328 Seminoma of Testis Seminoma of Testis[accessedResource: NCIt:C7328][accessDate: 05-04-2011] Seminoma of the Testis Seminoma of the Testis[accessedResource: NCIt:C7328][accessDate: 05-04-2011] Testicular Seminoma Pure Testicular Seminoma Pure[accessedResource: NCIt:C7328][accessDate: 05-04-2011] Tomasz Adamusiak osteomyelitis A bone inflammation disease that results_from infection located_in bone and located_in bone marrow. A bone inflammation disease that results_from infection located_in bone and located_in bone marrow.[accessedResource: DOID:1019][accessDate: 05-04-2011] DOID:1019 Osteomyelitis of ankle and/or foot (disorder) Osteomyelitis of ankle and/or foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Osteomyelitis of forearm (disorder) Osteomyelitis of forearm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Osteomyelitis of hand (disorder) Osteomyelitis of hand (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Osteomyelitis of lower leg (disorder) Osteomyelitis of lower leg (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Osteomyelitis of multiple sites (disorder) Osteomyelitis of multiple sites (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Osteomyelitis of shoulder region (disorder) Osteomyelitis of shoulder region (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Osteomyelitis of upper arm (disorder) Osteomyelitis of upper arm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Tomasz Adamusiak Unspecified infection of bone of shoulder region Unspecified infection of bone of shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified infection of bone, ankle and foot Unspecified infection of bone, ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified infection of bone, forearm Unspecified infection of bone, forearm[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified infection of bone, hand Unspecified infection of bone, hand[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified infection of bone, lower leg Unspecified infection of bone, lower leg[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified infection of bone, upper arm Unspecified infection of bone, upper arm[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis involving multiple sites Unspecified osteomyelitis involving multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of multiple sites Unspecified osteomyelitis of multiple sites (disorder) Unspecified osteomyelitis of multiple sites (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the ankle and foot Unspecified osteomyelitis of the ankle and foot (disorder) Unspecified osteomyelitis of the ankle and foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the forearm (disorder) Unspecified osteomyelitis of the forearm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the hand Unspecified osteomyelitis of the hand (disorder) Unspecified osteomyelitis of the hand (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the hand[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the lower leg (disorder) Unspecified osteomyelitis of the lower leg (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the shoulder region Unspecified osteomyelitis of the shoulder region (disorder) Unspecified osteomyelitis of the shoulder region (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011] Unspecified osteomyelitis of the upper arm (disorder) Unspecified osteomyelitis of the upper arm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] acute osteomyelitis acute osteomyelitis involving ankle and foot acute osteomyelitis involving hand acute osteomyelitis involving lower leg acute osteomyelitis involving multiple sites acute osteomyelitis involving pelvic region and thigh acute osteomyelitis involving shoulder region acute osteomyelitis involving upper arm acute osteomyelitis of ankle and/or foot (disorder) acute osteomyelitis of the ankle and foot acute osteomyelitis of the ankle and foot (disorder) acute osteomyelitis[accessedResource: DOID:1019][accessDate: 05-04-2011] bone infection NOS, of ankle and foot (disorder) bone infection NOS, of ankle and foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] bone infection NOS, of multiple sites (disorder) bone infection NOS, of multiple sites (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] bone infection NOS, of the forearm (disorder) bone infection NOS, of the forearm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] bone infection NOS, of the hand (disorder) bone infection NOS, of the hand (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] bone infection NOS, of the lower leg (disorder) bone infection NOS, of the lower leg (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] bone infection NOS, of the shoulder region (disorder) bone infection NOS, of the shoulder region (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] bone infection NOS, of the upper arm (disorder) bone infection NOS, of the upper arm (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis chronic osteomyelitis involving ankle and foot chronic osteomyelitis involving ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis involving hand chronic osteomyelitis involving hand[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis involving lower leg chronic osteomyelitis involving lower leg[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis involving multiple sites chronic osteomyelitis involving multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis involving pelvic region and thigh chronic osteomyelitis involving pelvic region and thigh[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis involving shoulder region chronic osteomyelitis involving shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis involving upper arm chronic osteomyelitis involving upper arm[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis of ankle and/or foot (disorder) chronic osteomyelitis of ankle and/or foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis of the ankle and foot chronic osteomyelitis of the ankle and foot (disorder) chronic osteomyelitis of the ankle and foot (disorder)[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis of the ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011] chronic osteomyelitis[accessedResource: DOID:1019][accessDate: 05-04-2011] osteomyelitis of ankle and foot osteomyelitis of ankle and foot[accessedResource: DOID:1019][accessDate: 05-04-2011] osteomyelitis of forearm osteomyelitis of forearm[accessedResource: DOID:1019][accessDate: 05-04-2011] osteomyelitis of hand osteomyelitis of hand[accessedResource: DOID:1019][accessDate: 05-04-2011] osteomyelitis of lower leg osteomyelitis of lower leg[accessedResource: DOID:1019][accessDate: 05-04-2011] osteomyelitis of multiple sites osteomyelitis of multiple sites[accessedResource: DOID:1019][accessDate: 05-04-2011] osteomyelitis of shoulder region osteomyelitis of shoulder region[accessedResource: DOID:1019][accessDate: 05-04-2011] osteomyelitis of upper arm osteomyelitis of upper arm[accessedResource: DOID:1019][accessDate: 05-04-2011] urinary tract infection A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine. A bacterial infectious process affecting any part of the urinary tract, most commonly the bladder and the urethra. Symptoms include urinary urgency and frequency, burning sensation during urination, lower abdominal discomfort, and cloudy urine.[accessedResource: NCIt:C50791][accessDate: 05-04-2011] INFECTION, URINARY TRACT INFECTION, URINARY TRACT[accessedResource: NCIt:C50791][accessDate: 05-04-2011] NCIt:C50791 TRACT, INFECTION OF URINARY TRACT, INFECTION OF URINARY[accessedResource: NCIt:C50791][accessDate: 05-04-2011] Tomasz Adamusiak adrenocortical adenoma Adrenal cortical adenoma (disorder) Adrenal cortical adenoma - morphology Adrenal cortical adenoma NOS (morphologic abnormality) Adrenal cortical adenoma, no ICD-O subtype (morphologic abnormality) DOID:4317 Tomasz Adamusiak adrenal cortical adenoma spina bifida HP:0002414 OMIM:182940 Tomasz Adamusiak pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.[accessedResource: DOID:552][accessDate: 05-04-2011] DOID:552 Pneumonia (disorder) Pneumonia (disorder) [Ambiguous] Pneumonia NOS Pneumonia NOS (disorder) Pneumonia due to other specified organism Pneumonia due to other specified organisms Pneumonia due to other specified organisms (disorder) Pneumonitis Pneumonitis (disorder) Pneumonitis[accessedResource: DOID:552][accessDate: 05-04-2011] Tomasz Adamusiak acute pneumonia acute pneumonia[accessedResource: DOID:552][accessDate: 05-04-2011] chest infection due to pneumonia pneumonia with infectious disease obsolete_spinal muscular atrophy with respiratory distress OMIM:604320 OMIMID:604320 SMARD 1 Tomasz Adamusiak spinal muscular atrophy with respiratory distress type 1 2.32 use 'http://www.orphanet.org/rdfns#pat_id_13937' instead. New Label : Spinal muscular atrophy with respiratory distress true essential tremor DOID:4990 Essential tremor (finding) Essential tremor (finding)[accessedResource: DOID:4990][accessDate: 05-04-2011] MSH:D020329 Tomasz Adamusiak benign essential tremor benign essential tremor (disorder) [Ambiguous] benign essential tremor (disorder) [Ambiguous][accessedResource: DOID:4990][accessDate: 05-04-2011] benign essential tremor[accessedResource: DOID:4990][accessDate: 05-04-2011] true obsolete_alopecia DOID:987 Tomasz Adamusiak use 'http://www.orphanet.org/rdfns#pat_id_11390' instead. New Label : Alopecia true 2.32 villitis Inflammation of chorionic villi Inflammation of chorionic villi[accessedResource: SNOMEDCT:388604008][accessDate: 05-04-2011] SNOMEDCT:388604008 Tomasz Adamusiak Villitis (disorder) Villitis (disorder)[accessedResource: SNOMEDCT:388604008][accessDate: 05-04-2011] Villositis Villositis[accessedResource: SNOMEDCT:388604008][accessDate: 05-04-2011] obsolete_neuronal ceroid lipofuscinosis A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline. NCIt:C61257 OMIM:204300 Tomasz Adamusiak use 'http://www.orphanet.org/rdfns#pat_id_650' instead. New Label : Neuronal ceroid lipofuscinosis true 2.32 obsolete_late infantile neuronal ceroid lipofuscinosis Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life. Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life.[accessedResource: NCIt:C85864][accessDate: 05-04-2011] NCIt:C85864 OMIM:204500 Tomasz Adamusiak true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_17766' instead. New Label : Late infantile neuronal ceroid lipofuscinosis obsolete_polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy NHD Nasu-Hakola disease OMIM:221770 OMIMID:221770 PLOSL Presenile dementia with bone cyst Tomasz Adamusiak use 'http://www.orphanet.org/rdfns#pat_id_2523' instead. New Label : Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy 2.32 true pauciarticular juvenile rheumatoid arthritis Amyloid neoplasm Amyloid neoplasm[accessedResource: DOID:675][accessDate: 05-04-2011] Amyloid tumor Amyloid tumor (morphologic abnormality) Amyloid tumor (morphologic abnormality)[accessedResource: DOID:675][accessDate: 05-04-2011] DOID:675 Pauciarticular juvenile rheumatoid arthritis (disorder) Pauciarticular onset juvenile chronic arthritis Tomasz Adamusiak amyloid tumor[accessedResource: DOID:675][accessDate: 05-04-2011] pauciarticular onset juvenile arthritis EBC-1 James Malone NCI-H125 H125 NCI-H1334 H1334 James Malone NCI-H157 H157 James Malone NCI-H1648 H1648 James Malone NCI-H2279 H2279 James Malone NCI-H2882 H2882 James Malone NCI-H2287 H2287 James Malone NCI-H3255 H3255 James Malone NCI-H520 H520 James Malone NCI-H820 H820 James Malone HCC1171 James Malone HCC1159 James Malone HCC1359 James Malone HCC15 James Malone HCC193 James Malone HCC366 James Malone HCC4006 James Malone HCC44 James Malone HCC461 James Malone HCC515 James Malone HCC78 HCC827 HCC95 James Malone HCjE James Malone LC2/AD James Malone LK-2 James Malone Lu130 James Malone CLIP-seq Anna Farne CLIP-Seq also called RIP-Seq or HITS-CLIP is a method used for finding which RNA species interact with a particular RNA-binding protein (or an RNA). It employs crosslinking between RNA and the protein, followed by immunoprecipitation with antibodies for the protein. RIP-seq HITS-CLIP heart failure DOID:6000 Heart failure (disorder) Heart failure NOS Heart failure NOS (disorder) Heart failure, unspecified Heart: [weak] or [failure NOS] MSH:D006333 Tomasz Adamusiak Weak heart Weak heart[accessedResource: DOID:6000][accessDate: 05-04-2011] true high output heart failure High output heart failure (disorder) High output heart failure (disorder)[accessedResource: SNOMEDCT:10091002][accessDate: 05-04-2011] SNOMEDCT:10091002 Tomasz Adamusiak high output cardiac failure symptomatic heart failure ACC Stage C Tomasz Adamusiak mild heart failure NYHA class II Tomasz Adamusiak moderate heart failure NYHA class III Tomasz Adamusiak advanced heart failure ACC Stage D NYHA class IV Tomasz Adamusiak African American A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described. A term used in the United States to categorize a population group comprised of persons having origins in any of the black racial groups of Africa. Includes population subgroups (e.g., Kenyan, Nigerian, Haitian). The concept refers also to individuals who classify themselves as described.[accessedResource: NCIt:C16352][accessDate: 05-04-2011] Afro American Afro American[accessedResource: NCIt:C16352][accessDate: 05-04-2011] BLACK OR AFRICAN AMERICAN BLACK OR AFRICAN AMERICAN[accessedResource: NCIt:C16352][accessDate: 05-04-2011] Black Black Populations Black Populations[accessedResource: NCIt:C16352][accessDate: 05-04-2011] Black[accessedResource: NCIt:C16352][accessDate: 05-04-2011] NCIt:C16352 Tomasz Adamusiak American Tomasz Adamusiak UMLS:C0596070 Asian Asians Asians[accessedResource: NCIt:C41260][accessDate: 05-04-2011] Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam. Denotes a person having origins in any of the original peoples of the Far East, Southeast Asia, or the Indian subcontinent, including Cambodia, China, India, Japan, Korea, Malaysia, Mongolia, Pakistan, the Philippine Islands, Thailand, and Vietnam.[accessedResource: NCIt:C41260][accessDate: 05-04-2011] Jie Zheng NCIt:C41260 Tomasz Adamusiak Asian Indian Asian Indians Asian Indians[accessedResource: NCIt:C41262][accessDate: 05-04-2011] Hindu In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans. In North America the term is used to distinguish a person having origins in the original peoples of the Indian sub-continent from Native Americans.[accessedResource: NCIt:C41262][accessDate: 05-04-2011] Indian Indian[accessedResource: NCIt:C41262][accessDate: 05-04-2011] NCIt:C41262 Tomasz Adamusiak Asian/Pacific Islander Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified. Denotes a person having origins in any of the original peoples of Hawaii, Guam, Samoa, or other Pacific Islands. The term covers particularly people who identify themselves as part-Hawaiian, Native Hawaiian, Guamanian or Chamorro, Carolinian, Samoan, Chuukese (Trukese), Fijian, Kosraean, Melanesian, Micronesian, Northern Mariana Islander, Palauan, Papua New Guinean, Pohnpeian, Polynesian, Solomon Islander, Tahitian, Tokelauan, Tongan, Yapese, or Pacific Islander, not specified.[accessedResource: NCIt:C41219][accessDate: 05-04-2011] NCIt:C41219 Native Hawaiian or Other Pacific Islander Native Hawaiian or Other Pacific Islander[accessedResource: NCIt:C41219][accessDate: 05-04-2011] Tomasz Adamusiak British Tomasz Adamusiak UMLS:C0596227 Caucasian Caucasians Caucasians[accessedResource: NCIt:C41261][accessDate: 05-04-2011] Caucasoid Caucasoid[accessedResource: NCIt:C41261][accessDate: 05-04-2011] Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White. Denotes person with European, Middle Eastern, or North African ancestral origin who identifies, or is identified, as White.[accessedResource: NCIt:C41261][accessDate: 05-04-2011] European Jie Zheng NCIt:C41261 Occidental Occidental[accessedResource: NCIt:C41261][accessDate: 05-04-2011] Tomasz Adamusiak White White[accessedResource: NCIt:C41261][accessDate: 05-04-2011] Whites Whites[accessedResource: NCIt:C41261][accessDate: 05-04-2011] Chinese Denotes the inhabitants of China, a person from there, or their descendants elsewhere. Denotes the inhabitants of China, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43391][accessDate: 05-04-2011] NCIt:C43391 Tomasz Adamusiak Eastern Indian Ele Holloway European-American Tomasz Adamusiak http://en.wikipedia.org/wiki/European_American Filipino Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere. Denotes the inhabitants of the Philippine Islands, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43393][accessDate: 05-04-2011] NCIt:C43393 Tomasz Adamusiak Han Chinese Han Chinese Tomasz Adamusiak http://en.wikipedia.org/wiki/Han_Chinese http://en.wikipedia.org/wiki/Han_Chinese Han Chinese are an ethnic group native to East Asia. Han Chinese constitute about 92% of the population of the People's Republic of China (mainland China) Han People CHB Iranian Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere. Denotes the inhabitants of Iran, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43869][accessDate: 05-04-2011] NCIt:C43869 Tomasz Adamusiak Irish Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere. Denotes the inhabitants of Ireland, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43856][accessDate: 05-04-2011] NCIt:C43856 Tomasz Adamusiak Japanese Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere. Denotes the inhabitants of Japan, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43392][accessDate: 05-04-2011] NCIt:C43392 Tomasz Adamusiak JPT Korean Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere. Denotes the inhabitants of Korea, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43395][accessDate: 05-04-2011] NCIt:C43395 Tomasz Adamusiak Latino A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification. A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Hispanic Hispanic Populations Hispanic Populations[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Hispanic or Latino Hispanic or Latino[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Hispanic[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Hispanics or Latinos Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Latino Population Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011] NCIt:C17459 Spanish Origin Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Tomasz Adamusiak Pima Indian NCIt:C44085 Pima Pima[accessedResource: NCIt:C44085][accessDate: 05-04-2011] Tomasz Adamusiak Hawaiian Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere. Denotes a person having origins in any of the original peoples of Hawaii, a person from there, or their descendants elsewhere.[accessedResource: NCIt:C43394][accessDate: 05-04-2011] NCIt:C43394 Native Hawaiian Native Hawaiian[accessedResource: NCIt:C43394][accessDate: 05-04-2011] Tomasz Adamusiak Hispanic A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification. A person of Mexican, Puerto Rican, Cuban, Central or South American or other Spanish culture or origin, regardless of race. An arbitrary ethnic classification.[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Hispanic Populations Hispanic Populations[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Hispanic or Latino Hispanic or Latino[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Hispanics or Latinos Hispanics or Latinos[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Latino Population Latino Population[accessedResource: NCIt:C17459][accessDate: 05-04-2011] NCIt:C17459 Spanish Origin Spanish Origin[accessedResource: NCIt:C17459][accessDate: 05-04-2011] Tomasz Adamusiak Tomasz Adamusiak pleiotrophin CASRN:134034-50-7 DSSTox_Generic_SID:40590 Ele Holloway James Malone Tomasz Adamusiak Pleiotrophin (PTN) also known as heparin-binding brain mitogen (HBBM) or heparin-binding growth factor 8 (HBGF-8) or neurite growth-promoting factor 1 (NEGF1) or heparin affinity regulatory peptide (HARP) or heparin binding growth associated molecule (HB-GAM) is a protein that in humans is encoded by the PTN gene.[1] Pleiotrophin is an 18-kDa growth factor that has a high affinity for heparin. It is structurally related to midkine and retinoic acid induced heparin-binding protein. http://en.wikipedia.org/wiki/Pleiotrophin thrombin DSSTox_Generic_SID:40626 Ele Holloway James Malone OMIM:176930 Tomasz Adamusiak http://en.wikipedia.org/wiki/Thrombin Thrombin is a "trypsin-like" serine protease protein that in humans is encoded by the F2 gene.[2][3] Prothrombin (coagulation factor II) is proteolytically cleaved to form thrombin in the coagulation cascade, which ultimately results in the stemming of blood loss. Thrombin in turn acts as a serine protease that converts soluble fibrinogen into insoluble strands of fibrin, as well as catalyzing many other coagulation-related reactions. ocimene CASRN:3779-61-1 DSSTox_CID:20567 DSSTox_Generic_SID:40567 Ele Holloway James Malone STRUCTURE_ChemicalName_IUPAC:(3E)-3,7-dimethylocta-1,3,6-triene STRUCTURE_Formula:C10H16 Tomasz Adamusiak leptin CASRN:169494-85-3 DSSTox_Generic_SID:39725 Ele Holloway James Malone Tomasz Adamusiak true oncostatin M CASRN:106956-32-5 DSSTox_Generic_SID:37070 Ele Holloway James Malone OMIM:165095 Tomasz Adamusiak erythropoietin CASRN:11096-26-7 DSSTox_Generic_SID:39678 Ele Holloway James Malone OMIM:133170 Tomasz Adamusiak true http://en.wikipedia.org/wiki/Erythropoietin Erythropoietin, or its alternatives erythropoetin or erthropoyetin (/ɨˌrɪθrɵˈpɔɪ.ɨtɨn/, /ɨˌrɪθrɵˈpɔɪtən/, or /ɨˌriːθrɵ-/) or EPO, is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow. follicle stimulating hormone CASRN:9002-68-0 DSSTox_Generic_SID:40483 Ele Holloway FSH James Malone Tomasz Adamusiak thrombopoietin CASRN:9014-42-0 DSSTox_CID: DSSTox_Generic_SID:40918 Ele Holloway James Malone OMIM:600044 Tomasz Adamusiak Thrombopoietin (THPO) also known as megakaryocyte growth and development factor (MGDF) is a protein that in humans is encoded by the THPO gene. Thrombopoietin is a glycoprotein hormone produced mainly by the liver and the kidney that regulates the production of platelets by the bone marrow. It stimulates the production and differentiation of megakaryocytes, the bone marrow cells that fragment into large numbers of platelets.[1] http://en.wikipedia.org/wiki/Thrombopoietin chitin octamer CASRN:98632-70-3 DSSTox_CID:20445 DSSTox_Generic_SID:40445 Ele Holloway James Malone STRUCTURE_ChemicalName_IUPAC:2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranosyl-(1->4)-2-(acetylamino)-2-deoxy-beta-D-glucopyranose STRUCTURE_Formula:C64H106N8O41 Tomasz Adamusiak chitooctaose flagellin CASRN:12777-81-0 DSSTox_Generic_SID:40482 Ele Holloway James Malone Tomasz Adamusiak neuromedin U CASRN:117505-80-3 DSSTox_Generic_SID:40559 Ele Holloway James Malone Tomasz Adamusiak neuromedin U Neuromedin U (or NmU) is a neuropeptide found in the brain of humans and other mammals, which has a number of diverse functions including contraction of smooth muscle, regulation of blood pressure, pain perception, appetite, bone growth, and hormone release. It was first isolated from the spinal cord in 1985, and named after its ability to cause smooth muscle contraction in the uterus. tumor necrosis factor-alpha CASRN:308079-78-9 DSSTox_CID:40634 Ele Holloway James Malone OMIM:191160 TNF-alpha; tumor necrosis factor Tomasz Adamusiak true Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-α) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. http://en.wikipedia.org/wiki/Tumour_necrosis_factor-alpha vascular endothelial growth factor CASRN:127464-60-2 DSSTox_Generic_SID:40639 Ele Holloway James Malone OMIM:192240 Tomasz Adamusiak VEGF Vascular endothelial growth factor (VEGF) is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate. Serum concentration of VEGF is high in bronchial asthma and low in diabetes mellitus. VEGF's normal function is to create new blood vessels during embryonic development, new blood vessels after injury, muscle following exercise, and new vessels (collateral circulation) to bypass blocked vessels. When VEGF is overexpressed, it can contribute to disease. Solid cancers cannot grow beyond a limited size without an adequate blood supply; cancers that can express VEGF are able to grow and metastasize. Overexpression of VEGF can cause vascular disease in the retina of the eye and other parts of the body. Drugs such as bevacizumab can inhibit VEGF and control or slow those diseases. VEGF is a sub-family of growth factors, to be specific, the platelet-derived growth factor family of cystine-knot growth factors. They are important signaling proteins involved in both vasculogenesis (the de novo formation of the embryonic circulatory system) and angiogenesis (the growth of blood vessels from pre-existing vasculature). http://en.wikipedia.org/wiki/Vascular_endothelial_growth_factor interleukin-2 (Mus musculus) CASRN:102524-44-7 DSSTox_Generic_SID:40516 Ele Holloway IL-2 James Malone Tomasz Adamusiak listeriolysin CASRN:72270-41-8 DSSTox_Generic_SID:42688 Ele Holloway James Malone Tomasz Adamusiak interleukin-4 (Homo sapiens) CASRN:207137-56-2 DSSTox_CID:37158 Ele Holloway IL-4 James Malone Tomasz Adamusiak epidermal growth factor CASRN:62229-50-9 DSSTox_Generic_SID:40469 EGF Ele Holloway James Malone OMIM:131530 Tomasz Adamusiak hepatocyte growth factor CASRN:67256-21-7 DSSTox_Generic_SID:40491 Ele Holloway HGF James Malone OMIM:142409 Tomasz Adamusiak anti-CD28 DSSTox_Generic_SID:40416 Ele Holloway James Malone Tomasz Adamusiak heregulin B1 CASRN:155646-83-6 DSSTox_Generic_SID:40493 Ele Holloway HRG James Malone Tomasz Adamusiak Hereregulin b1 is a signaling protein for ErbB2/ErbB4 receptor heterodimers on the cardiac muscle cells. basic fibroblast growth factor CASRN:106096-93-9 DSSTox_Generic_SID:40423 Ele Holloway James Malone OMIM:131220 Tomasz Adamusiak bFGF anti-CD3 DSSTox_Generic_SID:44052 Ele Holloway James Malone Tomasz Adamusiak zebrafish component Tomasz Adamusiak zebrafish embryonic structure Tomasz Adamusiak Drosophila developmental tissue Tomasz Adamusiak Drosophila component Tomasz Adamusiak Drosophila embryonic structure Tomasz Adamusiak mesectoderm anlage AMesEc FBbt:00000109 Tomasz Adamusiak head mesoderm FBbt:00000127 HeadMes HeadMesP3 P4 HeadMes Tomasz Adamusiak head mesoderm P3 primordium head mesoderm primordium P4 procephalic mesoderm embryonic optic lobe primordium . .[accessedResource: FBbt:00000186][accessDate: 05-04-2011] FBbt:00000186 Tomasz Adamusiak optic lobe placode optic lobe primordium posterior spiracle primordium FBbt:00000197 P1 PosSpi Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10). Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10). Primordium of the posterior spiracle of the larva. Originates in the posterior half of the lateral ectoderm of abdominal segment 8 during stage 12 as a group of cells that are more basophilic that those surrounding them. It forms a deep groove that fuses with the posterior arm of the tracheal primordium of A8 (tracheal metamere 10).[accessedResource: FBbt:00000197][accessDate: 05-04-2011] Tomasz Adamusiak embryonic posterior spiracle embryonic posterior spiracle[accessedResource: FBbt:00000197][accessDate: 05-04-2011] posterior spiracle specific anlage posterior endoderm anlage Asn/A postEndo FBbt:00000447 Tomasz Adamusiak ventral thoracic disc FBbt:00001780 Imaginal disc that is a precursor of ventral thoracic structures of the adult. Imaginal disc that is a precursor of ventral thoracic structures of the adult.[accessedResource: FBbt:00001780][accessDate: 05-04-2011] Tomasz Adamusiak leg disc ventral thoracic disk ventral thoracic disk[accessedResource: FBbt:00001780][accessDate: 05-04-2011] hindgut anlage FBbt:00004202 Tomasz Adamusiak ventral ectoderm anlage Asn/A VenEc FBbt:00004204 Tomasz Adamusiak tracheal primordium FBbt:00005037 P2 TrachP P2 TrachP[accessedResource: FBbt:00005037][accessDate: 05-04-2011] Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16. Primordium of a single tracheal metamere of the embryonic/larval tracheal system from its appearance as a placode during stage 11 to the completion of fusion with adjacent tracheal metameres in stage 15/16. There are 10 pairs of tracheal primordia - one pair in each segment from T2 to A8. Each tracheal primordium originates as a slight depression in the lateral ectoderm during stage 10 known as a tracheal placode. During stage 11, these placodes invaginate to form tracheal pits that elongate and branch. These pits close over during stage 13. Fusion of tracheal primordia begins at stage 14 with fusion of the dorsal trunk primordia and is complete by early stage 16.[accessedResource: FBbt:00005037][accessDate: 05-04-2011] Tomasz Adamusiak TrachP3 tracheal placode foregut anlage AFoG FBbt:00005431 Tomasz Adamusiak visual anlage A VisSys AVis FBbt:00005434 Tomasz Adamusiak hypopharynx anlage A HyPh FBbt:00005442 Tomasz Adamusiak hypopharynx specific anlage pericardial cell primordium . .[accessedResource: FBbt:00005466][accessDate: 05-04-2011] FBbt:00005466 Tomasz Adamusiak pericardial cell specific anlage visceral muscle primordium FBbt:00005519 Tomasz Adamusiak ViMusP2 inclusive hindgut primordium FBbt:00005523 Tomasz Adamusiak iHiGP2 gnathal primordium FBbt:00005534 GnaP2 Tomasz Adamusiak foregut primordium FBbt:00005535 FoGP2 Tomasz Adamusiak maxillary sensory complex primordium FBbt:00005544 Tomasz Adamusiak labial sensory complex primordium FBbt:00005545 Tomasz Adamusiak labral sensory complex primordium FBbt:00005546 P3 LrSens Tomasz Adamusiak head mesoderm anlage Asn/A TrMes FBbt:00005548 Tomasz Adamusiak proventriculus primordium FBbt:00005550 PvP3 Tomasz Adamusiak sensory nervous system primordium FBbt:00005551 Tomasz Adamusiak sensory nervous system specific anlage ventral sensory complex primordium FBbt:00005552 P3 VenSens Tomasz Adamusiak ventral sensory complex specific anlage ventral imaginal precursor FBbt:00005834 Tomasz Adamusiak head visceral muscle primordium FBbt:00007049 Tomasz Adamusiak central brain anlage A CenBr AProcEC FBbt:00015256 Tomasz Adamusiak procephalic ectoderm anlage amnioserosa primordium . .[accessedResource: FBbt:00017000][accessDate: 05-04-2011] FBbt:00017000 Tomasz Adamusiak visceral branch primordium FBbt:00017003 P1 VisTra Tomasz Adamusiak Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut. Tracheal primordium that develops into the embryonic/larval the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut.[accessedResource: FBbt:00017003][accessDate: 05-04-2011] embryonic visceral branch embryonic visceral branch[accessedResource: FBbt:00017003][accessDate: 05-04-2011] intestinal branch k branch visceral branch specific anlage visceral branch specific anlage[accessedResource: FBbt:00017003][accessDate: 05-04-2011] longitudinal visceral muscle primordium CVM FBbt:00017008 P1 LoViMus This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium. This primordium first becomes distinct at around stage 11 as a group of cells at the posterior tip of the visceral mesoderm (the tail end of the germ-band). During germ-band retraction these cells migrate anteriorly and split into two clusters - one on either side of the posterior midgut primordium. When these cell reach the anterior tip of the posterior midgut primordium they disperse anteriorly as two rows along the germband. Finally, during midgut closure these cells spread regularly over the underlying circular visceral muscle primordium.[accessedResource: FBbt:00017008][accessDate: 05-04-2011] Tomasz Adamusiak caudal visceral mesoderm longitudinal visceral mesoderm primordium longitudinal visceral muscle precursor primary segmental branch primordium FBbt:00017011 P1 SegTra Primordium that develops into a primary trachea. Primordium that develops into a primary trachea.[accessedResource: FBbt:00017011][accessDate: 05-04-2011] Tomasz Adamusiak primary segmental branch specific anlage oenocyte primordium A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12. A 'whorl' of larval oenocyte precursors which forms transiently around each 'chordotonal precursor cell C1' during stage 11. It ceases to exist when these cells delaminate during stages 11 and 12.[accessedResource: FBbt:00017020][accessDate: 05-04-2011] FBbt:00017020 Tomasz Adamusiak oenocyte specific anlage hindgut proper primordium FBbt:00000441 P2 pHiGP Tomasz Adamusiak pHiGP2 Malpighian tubule primordium FBbt:00000442 MTP2 P2 MalT Tomasz Adamusiak posterior midgut proper primordium FBbt:00000448 P1 antEndoP Tomasz Adamusiak postMGP2 posterior midgut primordium embryonic inner optic lobe primordium FBbt:00000461 P1 IOA Tomasz Adamusiak visual primordium FBbt:00001059 P2 VisSys Tomasz Adamusiak optic lobe placode optic lobe primordium fat body primordium FBbt:00005067 The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body). The fat body primordium after the gonadal sheath primordium splits from it during stage 14. During late embryogenesis, various holes and clefts form, giving the fat body its larval form. The cells of this primordium do not accumulate fat during their differentiation (this only happens in the larval fat body).[accessedResource: FBbt:00005067][accessDate: 05-04-2011] Tomasz Adamusiak fat body specific anlage hindgut anlage in statu nascendi A0HiGP FBbt:00005424 Tomasz Adamusiak visual anlage in statu nascendi A0Vis Asn VisSys FBbt:00005425 Tomasz Adamusiak Malpighian tubule main body primordium FBbt:00005501 P1 MalTB Tomasz Adamusiak small intestine primordium FBbt:00005504 P1 SmInt Tomasz Adamusiak small intestine specific anlage large intestine primordium FBbt:00005505 P1 LaInt Tomasz Adamusiak large intestine specific anlage rectum primordium FBbt:00005506 P1 Rect Tomasz Adamusiak rectum specific anlage pars intercerebralis primordium FBbt:00005511 Tomasz Adamusiak salivary gland body primordium FBbt:00005512 P1 SalG Tomasz Adamusiak salivary gland body specific anlage somatic muscle primordium FBbt:00005518 P1 SoMus Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells. Primordium of the embryonic/larval somatic musculature of the trunk. It arises from the outer layer of the trunk mesoderm. During germ band shortening (stage 13), it segregates into loose segmental clusters. Within these clusters, muscle formation proceeds by fusion of fusion competent myoblasts to muscle founder cells.[accessedResource: FBbt:00005518][accessDate: 05-04-2011] SoMusP2 Tomasz Adamusiak somatic muscle specific anlage midline primordium FBbt:00005528 Tomasz Adamusiak ventral epidermis primordium FBbt:00005533 P2 iVenEp Tomasz Adamusiak venEpiP2 stomatogastric nervous system primordium FBbt:00005536 P2 SNS SnsP2 Tomasz Adamusiak central brain primordium . .[accessedResource: FBbt:00005542][accessDate: 05-04-2011] FBbt:00005542 P1 Cen Br P3 CenBr ProcEcP2 Tomasz Adamusiak procephalic ectoderm primordium ventral midline neuroblast FBbt:00005565 Tomasz Adamusiak embryonic maxillary sensory complex FBbt:00005618 Tomasz Adamusiak embryonic hindgut FBbt:00005630 Tomasz Adamusiak embryonic Malpighian tubule tip cell FBbt:00005643 Tomasz Adamusiak embryonic outer optic lobe primordium FBbt:00005822 P1 OOA Tomasz Adamusiak hypopharynx anlage in statu nascendi . .[accessedResource: FBbt:00016000][accessDate: 05-04-2011] Asn HyPh FBbt:00016000 Tomasz Adamusiak hypopharyngeal sense organ primordium . .[accessedResource: FBbt:00016001][accessDate: 05-04-2011] FBbt:00016001 P3 HySens Tomasz Adamusiak embryonic stomatogastric nervous system FBbt:00001069 Tomasz Adamusiak ring gland A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci. A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci. A closely associated cluster of three larval endocrine glands located anterior to the aorta and larval lymph gland. Its component glands are: the corpus cardiacum, the prothoracic gland and the corpus allatum. It is innervated by neurons of the nervus corporis cardiaci.[accessedResource: FBbt:00001722][accessDate: 05-04-2011] FBbt:00001722 Tomasz Adamusiak prothoracic gland A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum. A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum. A component of the embryonic/larval ring gland composed of a cluster of 10-20 cells on either side of the aorta. Ventrally, it is continuous with the corpus cardiaca, dorsally with the corpus allatum.[accessedResource: FBbt:00001724][accessDate: 05-04-2011] FBbt:00001724 Tomasz Adamusiak hypopharyngeal sense organ FBbt:00002665 Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve. Multiply innervated sensillum, composed of an anterior and a posterior sensillum, located on the floor of the larval pharynx. It is innervated by 3 or 4 neurons whose axons join an anteriorly directed bundle that joins the labral nerve.[accessedResource: FBbt:00002665][accessDate: 05-04-2011] Organ X PPS Tomasz Adamusiak X-organ of Keilin hpo larval pharyngeal sense organ posterior pharyngeal sensilla capitellum Bulbous, distal-most segment of the haltere. Bulbous, distal-most segment of the haltere.[accessedResource: FBbt:00004784][accessDate: 05-04-2011] FBbt:00004784 Tomasz Adamusiak pole plasm FBbt:00004891 Tomasz Adamusiak trunk mesoderm anlage Asn/A TrMes FBbt:00005436 Tomasz Adamusiak ventral nerve cord primordium AvenNeur FBbt:00005554 P3 venNeur Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium. Primordium which is formed by the delamination of neuroblasts from the ventral neurogenic region. The first of five waves of delamination starts towards the end of embryonic stage 8. During stage 11, the mesectoderm loses contact with the outer surface and forms neuronal and glial precursors in the midline of this primordium.[accessedResource: FBbt:00005554][accessDate: 05-04-2011] Tomasz Adamusiak venNeurP3 ventral neurectoderm ventral neuroderm primordium ventral neuroectoderm ventral midline neuron FBbt:00005566 Tomasz Adamusiak ventral midline glia FBbt:00005567 Tomasz Adamusiak embryonic tracheole FBbt:00005571 Tomasz Adamusiak embryonic proventriculus inner layer FBbt:00005608 Tomasz Adamusiak embryonic proventriculus intermediate layer FBbt:00005609 Tomasz Adamusiak embryonic proventriculus outer layer FBbt:00005610 Tomasz Adamusiak larval labral segment FBbt:00005617 Tomasz Adamusiak labral sensory complex labral sensory complex[accessedResource: FBbt:00005617][accessDate: 05-04-2011] embryonic labial sensory complex FBbt:00005619 Tomasz Adamusiak embryonic midgut interstitial cell FBbt:00005626 Tomasz Adamusiak embryonic hypocerebral ganglion FBbt:00005669 Tomasz Adamusiak lateral cord glia FBbt:00005673 Tomasz Adamusiak lateral cord neuron FBbt:00005675 Tomasz Adamusiak embryonic leading edge cell Cell at the leading edge of the dorsal epidermis during dorsal closure. Cell at the leading edge of the dorsal epidermis during dorsal closure.[accessedResource: FBbt:00005746][accessDate: 05-04-2011] FBbt:00005746 Tomasz Adamusiak embryonic ventral apodeme FBbt:00005749 Tomasz Adamusiak lateral cord surface glia FBbt:00005824 Tomasz Adamusiak ring gland primordium . .[accessedResource: FBbt:00017009][accessDate: 05-04-2011] FBbt:00017009 Tomasz Adamusiak cibarium primordium . .[accessedResource: FBbt:00017019][accessDate: 05-04-2011] FBbt:00017019 Tomasz Adamusiak atrium primordium forerunner cell group A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle. A group of cells that migrate at the leading edge of shield during gastrulation but do not involute. At the end of gastrulation, forerunner cells migrate deep into the embryo and organize to form Kupffer's vesicle.[accessedResource: ZFA:0000023][accessDate: 05-04-2011] DFCs DFCs[accessedResource: ZFA:0000023][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000023 dorsal forerunner cells dorsal forerunner cells[accessedResource: ZFA:0000023][accessDate: 05-04-2011] forerunner cells forerunner cells[accessedResource: ZFA:0000023][accessDate: 05-04-2011] obsolete_olfactory placode Neurogenic placode that gives rise to the olfactory neurons that which convey odor information to the CNS. Neurogenic placode that gives rise to the olfactory neurons that which convey odor information to the CNS.[accessedResource: ZFA:0000048][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000048 olfactory placodes olfactory placodes[accessedResource: ZFA:0000048][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0003050 label: olfactory placode true 2.39 obsolete_presumptive segmental plate Tomasz Adamusiak ZFA:0000053 presumptive segmental plates presumptive segmental plates[accessedResource: ZFA:0000053][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0007282 label: presumptive segmental plate 2.39 true polster The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period. The hatching gland rudiment at the time it underlies the forebrain during the early segmentation period.[accessedResource: ZFA:0000058][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000058 pillow pillow[accessedResource: ZFA:0000058][accessDate: 05-04-2011] presumptive forebrain Tomasz Adamusiak ZFA:0000062 presumptive prosencephalon presumptive prosencephalon[accessedResource: ZFA:0000062][accessDate: 05-04-2011] obsolete_presumptive neural plate Region of the gastrula which gives rise to the neural plate. Region of the gastrula which gives rise to the neural plate.[accessedResource: ZFA:0000063][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000063 neurectoderm presumptive central nervous system presumptive central nervous system[accessedResource: ZFA:0000063][accessDate: 05-04-2011] prospective neuroectoderm prospective neuroectoderm[accessedResource: ZFA:0000063][accessDate: 05-04-2011] prospective vegetal ectoderm prospective vegetal ectoderm[accessedResource: ZFA:0000063][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007284 label: presumptive neural plate true enveloping layer EVL EVL[accessedResource: ZFA:0000086][accessDate: 05-04-2011] Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm. Outermost monolayer of cells surrounding the embryo that become very flattened in the blastula and give rise to the periderm. Sometimes used synonymously with periderm.[accessedResource: ZFA:0000086][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000086 axial chorda mesoderm Tomasz Adamusiak ZFA:0000091 chordamesoderm chordamesoderm[accessedResource: ZFA:0000091][accessDate: 05-04-2011] presumptive notochord presumptive notochord[accessedResource: ZFA:0000091][accessDate: 05-04-2011] obsolete_germ ring Tomasz Adamusiak ZFA:0000111 true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0002541 label: germ ring obsolete_liver primordium Tomasz Adamusiak ZFA:0000124 liver bud liver bud[accessedResource: ZFA:0000124][accessDate: 05-04-2011] 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0003894 label: liver primordium obsolete_otic placode Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the mid-segmentation period. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/ear/ear.html'>ear</a> by T. Whitfield.) Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the mid-segmentation period. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/ear/ear.html'>ear</a> by T. Whitfield.)[accessedResource: ZFA:0000138][accessDate: 05-04-2011] Primordium of the ear epithelium before it hollows into the otic vesicle, present beside the hindbrain rudiment in the midsegmentation period. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/ear/ear.html'>ear</a> by T. Whitfield.) Tomasz Adamusiak ZFA:0000138 true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0003069 Label: otic placode pectoral fin bud Tomasz Adamusiak ZFA:0000141 pectoral fin buds pectoral fin buds[accessedResource: ZFA:0000141][accessDate: 05-04-2011] presumptive brain Tomasz Adamusiak ZFA:0000146 brain rudiment brain rudiment[accessedResource: ZFA:0000146][accessDate: 05-04-2011] obsolete_presumptive midbrain Tomasz Adamusiak ZFA:0000148 presumptive mesencephalon presumptive mesencephalon[accessedResource: ZFA:0000148][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0009616 label: presumptive midbrain 2.39 obsolete_trigeminal placode The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period. The ectodermal rudiment of the trigeminal ganglion, distinguishable during much of the segmentation period.[accessedResource: ZFA:0000162][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000162 trigeminal placodes trigeminal placodes[accessedResource: ZFA:0000162][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0003070 label: trigeminal placode 2.39 true obsolete_pancreas primordium Tomasz Adamusiak ZFA:0000254 2.39 Use http://purl.obolibrary.org/obo/UBERON_0003921 label: pancreas primordium true presumptive dorsal mesoderm Tomasz Adamusiak ZFA:0000265 presumptive cephalic mesoderm Tomasz Adamusiak ZFA:0000414 obsolete_presumptive endoderm Tomasz Adamusiak ZFA:0000416 Use http://purl.obolibrary.org/obo/UBERON_0006595 label: presumptive endoderm true 2.39 presumptive spinal cord Tomasz Adamusiak ZFA:0000417 presumptive spinal cord neural keel presumptive spinal cord neural keel[accessedResource: ZFA:0000417][accessDate: 05-04-2011] presumptive spinal cord neural plate presumptive spinal cord neural plate[accessedResource: ZFA:0000417][accessDate: 05-04-2011] presumptive spinal cord neural rod presumptive spinal cord neural rod[accessedResource: ZFA:0000417][accessDate: 05-04-2011] obsolete_presumptive blood Tomasz Adamusiak ZFA:0000568 Use http://purl.obolibr ary.org/obo/UBERON_0006596 label: presumptive blood true 2.39 obsolete_presumptive hindbrain Tomasz Adamusiak ZFA:0000569 presumptive rhombencephalon presumptive rhombencephalon[accessedResource: ZFA:0000569][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0007277 label: presumptive hindbrain 2.39 true presumptive telencephalon Tomasz Adamusiak ZFA:0000571 presumptive diencephalon Tomasz Adamusiak ZFA:0000574 obsolete_presumptive paraxial mesoderm Tomasz Adamusiak ZFA:0000591 true Use http://purl.obolibrary.org/obo/UBERON_0007285 label: presumptive paraxial mesoderm 2.39 obsolete_presumptive shield Tomasz Adamusiak ZFA:0001121 Use http://purl.obolibrary.org/obo/UBERON_0007283 label: presumptive shield 2.39 true posterior lateral line placode Tomasz Adamusiak ZFA:0001156 posterior lateral line placodes posterior lateral line placodes[accessedResource: ZFA:0001156][accessDate: 05-04-2011] obsolete_presumptive midbrain hindbrain boundary Tomasz Adamusiak ZFA:0001187 presumptive midbrain-hindbrain boundary presumptive midbrain-hindbrain boundary[accessedResource: ZFA:0001187][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0007281 label: presumptive midbrain hindbrain boundary 2.39 true obsolete_presumptive rhombomere 7 Tomasz Adamusiak ZFA:0001209 true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007294 label: presumptive rhombomere 7 obsolete_presumptive rhombomere 6 Tomasz Adamusiak ZFA:0001210 Use http://purl.obolibrary.org/obo/UBERON_0007293 label:presumptive rhombomere 6 true 2.39 obsolete_presumptive rhombomere 5 Tomasz Adamusiak ZFA:0001211 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0007292 label: presumptive rhombomere 5 obsolete_presumptive rhombomere 4 Tomasz Adamusiak ZFA:0001212 Use http://purl.obolibrary.org/obo/UBERON_0007291 label: presumptive rhombomere 4 2.39 true obsolete_presumptive rhombomere 3 Tomasz Adamusiak ZFA:0001213 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0007290 label: presumptive rhombomere 3 obsolete_presumptive rhombomere 8 Tomasz Adamusiak ZFA:0001214 true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007295 label: presumptive rhombomere 8 obsolete_presumptive hypochord Tomasz Adamusiak ZFA:0001217 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0006599 label; presumptive hypochord obsolete_presumptive floor plate Part of the neural plate fated to become floor plate. Part of the neural plate fated to become floor plate.[accessedResource: ZFA:0001218][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001218 Use http://purl.obolibrary.org/obo/UBERON_0007286 label: presumptive floor plate 2.39 true obsolete_epibranchial placode Neurogenic placodes that generate neurons of the distal facial, glossopharyngeal and vagal ganglia, which convey sensation from the viscera, including pharyngeal endoderm structures, to the CNS. The epibranchial placodes are positioned ventrally to the ear and dorsally to the posterior pharyngeal pouches Neurogenic placodes that generate neurons of the distal facial, glossopharyngeal and vagal ganglia, which convey sensation from the viscera, including pharyngeal endoderm structures, to the CNS. The epibranchial placodes are positioned ventrally to the ear and dorsally to the posterior pharyngeal pouches[accessedResource: ZFA:0001294][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001294 epibranchial placodes epibranchial placodes[accessedResource: ZFA:0001294][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0003078 label: epibranchial placode 2.39 vagal placode 1 Epibranchial placode that gives rise to vagal ganglion 1. Epibranchial placode that gives rise to vagal ganglion 1.[accessedResource: ZFA:0001297][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001297 vagal placode 2 Epibranchial placode that gives rise to vagal ganglion 2. Epibranchial placode that gives rise to vagal ganglion 2.[accessedResource: ZFA:0001298][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001298 vagal placode 3 Epibranchial placode that gives rise to vagal ganglion 3. Epibranchial placode that gives rise to vagal ganglion 3.[accessedResource: ZFA:0001299][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001299 vagal placode 4 Epibranchial placode that gives rise to vagal ganglion 4. Epibranchial placode that gives rise to vagal ganglion 4.[accessedResource: ZFA:0001300][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001300 obsolete_neurogenic placode Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia. Neurogenic placodes are transient ectodermal thickenings that form at the border of the neural plate and epidermis and give rise to sensory neurons of the cranial ganglia.[accessedResource: ZFA:0001309][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001309 neurogenic placodes neurogenic placodes[accessedResource: ZFA:0001309][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0009955 label: neurogenic placode true 2.39 anterior lateral line placode Tomasz Adamusiak ZFA:0001316 anterior lateral line placodes anterior lateral line placodes[accessedResource: ZFA:0001316][accessDate: 05-04-2011] obsolete_presumptive enteric nervous system Tomasz Adamusiak ZFA:0001334 true Use http://purl.obolibrary.org/obo/UBERON_0006600 label: presumptive enteric nervous system 2.39 obsolete_presumptive forebrain midbrain boundary Tomasz Adamusiak ZFA:0001368 true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007288 label: presumptive forebrain midbrain boundary anterior pancreatic bud Tomasz Adamusiak ZFA:0001369 ventral pancreatic anlage ventral pancreatic anlage[accessedResource: ZFA:0001369][accessDate: 05-04-2011] posterior pancreatic bud Tomasz Adamusiak ZFA:0001370 dorsal pancreatic anlage dorsal pancreatic anlage[accessedResource: ZFA:0001370][accessDate: 05-04-2011] obsolete_presumptive ectoderm Presumptive structure at the animal poll of the blastula that will develop into ectoderm via the epiblast. Determined by fate mapping. Presumptive structure at the animal poll of the blastula that will develop into ectoderm via the epiblast. Determined by fate mapping.[accessedResource: ZFA:0001376][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001376 presumptive epidermis presumptive epidermis[accessedResource: ZFA:0001376][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0006601 label: presumptive ectoderm 2.39 true obsolete_presumptive mesoderm Tomasz Adamusiak ZFA:0001377 Use http://purl.obolibrary.org/obo/UBERON_0006603 label: presumptive mesoderm 2.39 true fin bud Tomasz Adamusiak ZFA:0001383 fin buds fin buds[accessedResource: ZFA:0001383][accessDate: 05-04-2011] pelvic fin bud Tomasz Adamusiak ZFA:0001384 pelvic fin buds pelvic fin buds[accessedResource: ZFA:0001384][accessDate: 05-04-2011] obsolete_pancreatic bud Tomasz Adamusiak ZFA:0001390 pancreatic buds pancreatic buds[accessedResource: ZFA:0001390][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0003922 label: pancreatic bud true 2.39 presumptive ventral fin fold Tomasz Adamusiak ZFA:0005103 obsolete_caudal artery CA CA[accessedResource: ZFA:0000011][accessDate: 05-04-2011] Extension of the dorsal aorta in the tail. Extension of the dorsal aorta in the tail.[accessedResource: ZFA:0000011][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000011 true Use http://purl.obolibrary.org/obo/UBERON_0003086 label: caudal artery 2.39 obsolete_floor plate Multi-tissue structure that is the ventral-most aspect of the developing neural tube. The floor plate is a specialized glial structure that spans the rostral-caudal axis from the midbrain to the tail regions. Multi-tissue structure that is the ventral-most aspect of the developing neural tube. The floor plate is a specialized glial structure that spans the rostral-caudal axis from the midbrain to the tail regions.[accessedResource: ZFA:0000022][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000022 flexural organ flexural organ[accessedResource: ZFA:0000022][accessDate: 05-04-2011] floorplate floorplate[accessedResource: ZFA:0000022][accessDate: 05-04-2011] fp fp[accessedResource: ZFA:0000022][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0003079 label: floor plate 2.39 macula utricle Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity. The macula utricle covers most of the floor of the utricle. Portion of tissue that is a patch of thickened, pseudostratified epithelium in the inner ear, consisting of regular arrays of sensory hair cells interspersed with supporting cells. The macula utricle senses linear acceleration and gravity. The macula utricle covers most of the floor of the utricle.[accessedResource: ZFA:0000030][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000030 maculae utricle maculae utricle[accessedResource: ZFA:0000030][accessDate: 05-04-2011] obsolete_hypochord Portion of tissue that arises from the arise from the lateral edges of the shield and is located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived. Portion of tissue that arises from the arise from the lateral edges of the shield and is located immediately ventral to the notochord. The hypochord is thought to play a role in positioning the dorsal aorta. Unlike in frogs and axolotl, the hypochord does not appear to be endodermally derived.[accessedResource: ZFA:0000031][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000031 Use http://purl.obolibrary.org/obo/UBERON_0003058 label: hypochord 2.39 true intermediate cell mass of mesoderm ICM ICM[accessedResource: ZFA:0000033][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000033 intermediate cell mass of Oellacher intermediate cell mass of Oellacher[accessedResource: ZFA:0000033][accessDate: 05-04-2011] posterior intermediate cell mass posterior intermediate cell mass[accessedResource: ZFA:0000033][accessDate: 05-04-2011] median fin fold Tomasz Adamusiak ZFA:0000040 median fin median fin[accessedResource: ZFA:0000040][accessDate: 05-04-2011] obsolete_postoptic commissure POC POC[accessedResource: ZFA:0000059][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000059 post optic commissure post optic commissure[accessedResource: ZFA:0000059][accessDate: 05-04-2011] post-optic commissure post-optic commissure[accessedResource: ZFA:0000059][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0003936 label: postoptic commissure 2.39 obsolete_pronephric mesoderm Tomasz Adamusiak ZFA:0000067 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0005721 label: pronephric mesoderm obsolete_rhombomere 6 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0000069][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000069 r6 r6[accessedResource: ZFA:0000069][accessDate: 05-04-2011] 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0005519 label: rhombomere 6 somite 1 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000072][accessDate: 05-04-2011] ZFA:0000072 somite 5 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000073][accessDate: 05-04-2011] ZFA:0000073 obsolete_swim bladder The swim bladder is a double-chambered organ located in the coelom and used to maintain buoyancy and may function as an acoustic resonator. The zebrafish does not appear to have a gas gland, but it is not yet clear if there are gas producing cells distributed more widely. The swim bladder is a double-chambered organ located in the coelom and used to maintain buoyancy and may function as an acoustic resonator. The zebrafish does not appear to have a gas gland, but it is not yet clear if there are gas producing cells distributed more widely.[accessedResource: ZFA:0000076][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000076 gas bladder gas bladder[accessedResource: ZFA:0000076][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0006860 label: swim bladder 2.39 true obsolete_trigeminal neural crest Cranial neural crest which gives rise to the trigeminal ganglion. Cranial neural crest which gives rise to the trigeminal ganglion.[accessedResource: ZFA:0000080][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000080 Use http://purl.obolibrary.org/obo/UBERON_0005563 label: trigeminal neural crest 2.39 true obsolete_trunk mesenchyme Tomasz Adamusiak ZFA:0000081 Use http://purl.obolibrary.org/obo/UBERON_0005256 label: trunk mesenchyme true 2.39 ventral mesoderm Tomasz Adamusiak ZFA:0000083 apical ectodermal ridge pectoral fin bud AER pectoral fin AER pectoral fin[accessedResource: ZFA:0000085][accessDate: 05-04-2011] Apical ectodermal ridge that is part of the pectoral fin bud. Apical ectodermal ridge that is part of the pectoral fin bud.[accessedResource: ZFA:0000085][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000085 apical ectodermal ridge pectoral fin apical ectodermal ridge pectoral fin buds apical ectodermal ridge pectoral fin buds[accessedResource: ZFA:0000085][accessDate: 05-04-2011] apical ectodermal ridge pectoral fin[accessedResource: ZFA:0000085][accessDate: 05-04-2011] apical ectodermal ridge pectoral fins apical ectodermal ridge pectoral fins[accessedResource: ZFA:0000085][accessDate: 05-04-2011] apical fold pectoral fin apical fold pectoral fin[accessedResource: ZFA:0000085][accessDate: 05-04-2011] apical ectodermal ridge dorsal fin Apical ectodermal ridge that is part of the dorsal fin. Apical ectodermal ridge that is part of the dorsal fin.[accessedResource: ZFA:0000090][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000090 obsolete_blood island Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension. Nests of developing blood cells arising late in the segmentation period from the intermediate mass, and located in the anterior-ventral tail, just posterior to the yolk extension.[accessedResource: ZFA:0000094][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000094 blood islands blood islands[accessedResource: ZFA:0000094][accessDate: 05-04-2011] caudal hematopoietic tissue caudal hematopoietic tissue[accessedResource: ZFA:0000094][accessDate: 05-04-2011] posterior ICM posterior ICM[accessedResource: ZFA:0000094][accessDate: 05-04-2011] posterior blood island posterior blood island[accessedResource: ZFA:0000094][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0003061 label: blood island 2.39 true cardinal system Tomasz Adamusiak ZFA:0000096 obsolete_brain vasculature Tomasz Adamusiak ZFA:0000099 true Use http://purl.obolibrary.org/obo/UBERON_0005284 label: brain vasculature 2.39 obsolete_head mesenchyme Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com) Mesoderm that will give rise, along with cranial neural crest cells, to connective tissue, bone and musculature in the head. (Source: BioGlossary, www.Biology-Text.com)[accessedResource: ZFA:0000113][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000113 true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0005253 label: head mesenchyme lateral line ganglion Tomasz Adamusiak ZFA:0000120 lateral line ganglia lateral line ganglia[accessedResource: ZFA:0000120][accessDate: 05-04-2011] llg llg[accessedResource: ZFA:0000120][accessDate: 05-04-2011] obsolete_lens placode Ectodermal primordium of the lens of the eye. Ectodermal primordium of the lens of the eye.[accessedResource: ZFA:0000122][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000122 lens placodes lens placodes[accessedResource: ZFA:0000122][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0003073 label: lens placode true mandibular lateral line neuromast Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the mandibular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000125][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000125 neuromast mandibular neuromast mandibular[accessedResource: ZFA:0000125][accessDate: 05-04-2011] neuromasts mandibular neuromasts mandibular[accessedResource: ZFA:0000125][accessDate: 05-04-2011] obsolete_olfactory pit Tomasz Adamusiak ZFA:0000130 nasal canal nasal canal[accessedResource: ZFA:0000130][accessDate: 05-04-2011] nasal cavity nasal cavity[accessedResource: ZFA:0000130][accessDate: 05-04-2011] nasal pit nasal pit[accessedResource: ZFA:0000130][accessDate: 05-04-2011] olfactory cavity olfactory cavity[accessedResource: ZFA:0000130][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0005870 label: olfactory pit 2.39 true obsolete_neural keel An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section. An intermediate stage (between the neural plate and neural rod) during the early segmentation period in the morphogenesis of the central nervous system primordium; the keel is roughly triangular shaped in cross section.[accessedResource: ZFA:0000131][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000131 presumptive central nervous system Use http://purl.obolibrary.org/obo/UBERON_0007135 label: neural keel 2.39 true obsolete_neural rod An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube. An intermediate stage in the development of the central nervous system present during the segmentation period; the neural rod is roughly cylindrical in shape, forms from the neural keel, and is not yet hollowed out into the neural tube.[accessedResource: ZFA:0000133][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000133 presumptive central nervous system 2.39 true use http://purl.obolibrary.org/obo/UBERON_0005068 label: neural rod otic lateral line neuromast Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the otic lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000136][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000136 neuromast otic neuromast otic[accessedResource: ZFA:0000136][accessDate: 05-04-2011] neuromasts otic neuromasts otic[accessedResource: ZFA:0000136][accessDate: 05-04-2011] obsolete_rhombomere 8 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0000153][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000153 r8 r8[accessedResource: ZFA:0000153][accessDate: 05-04-2011] 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0005527 label: rhombomere 8 tectal ventricle Tomasz Adamusiak ZFA:0000159 cerebral aquaduct cerebral aquaduct[accessedResource: ZFA:0000159][accessDate: 05-04-2011] medial tectal ventricle medial tectal ventricle[accessedResource: ZFA:0000159][accessDate: 05-04-2011] mesencephalic ventricle mesencephalic ventricle[accessedResource: ZFA:0000159][accessDate: 05-04-2011] mesencephalic vesicle mesencephalic vesicle[accessedResource: ZFA:0000159][accessDate: 05-04-2011] midbrain ventricle midbrain ventricle[accessedResource: ZFA:0000159][accessDate: 05-04-2011] ventral mesenchyme Tomasz Adamusiak ZFA:0000164 basibranchial Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials. Median elements that are ossified within copulae and are not assigned to a specific branchial arch number. They articulate posterolaterally with the hypobranchials.[accessedResource: ZFA:0000170][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000170 basibranchials basibranchials[accessedResource: ZFA:0000170][accessDate: 05-04-2011] branchial muscle Tomasz Adamusiak ZFA:0000172 branchial muscles branchial muscles[accessedResource: ZFA:0000172][accessDate: 05-04-2011] obsolete_bulbus arteriosus Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches. Multi-tissue structure that consists of three layers and through which the blood exits the heart. The bulbus arteriosus is a pear shaped chamber that functions as a capacitor, maintaining continuous blood flow into the gill arches.[accessedResource: ZFA:0000173][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000173 cardiac outflow tract cardiac outflow tract[accessedResource: ZFA:0000173][accessDate: 05-04-2011] outflow tract outflow tract[accessedResource: ZFA:0000173][accessDate: 05-04-2011] truncus truncus[accessedResource: ZFA:0000173][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0004152 label: bulbus arteriosus true 2.39 posterior lateral line nerve Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines. Cranial nerve which enters the brain between cranial nerves VIII and IX; contains afferents and sensory efferents to the posterior lateral line ganglion and middle ganglion. Fibers from the posterior lateral line ganglion innervate the occipital dorsal lateral line and trunk lateral lines.[accessedResource: ZFA:0000175][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000175 caudal lateral line nerve caudal lateral line nerve[accessedResource: ZFA:0000175][accessDate: 05-04-2011] obsolete_cleithrum Tomasz Adamusiak Transversely oriented bone connecting the occipital region of the skull dorsally and pectoral girdle ventrally; appears near the end of embryogenesis. Transversely oriented bone connecting the occipital region of the skull dorsally and pectoral girdle ventrally; appears near the end of embryogenesis.[accessedResource: ZFA:0000184][accessDate: 05-04-2011] ZFA:0000184 cleithra cleithra[accessedResource: ZFA:0000184][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0004741 label: cleithrum 2.39 obsolete_dentary Dermal bone that forms the antero-lateral part of the lower jaw. It first appears around the anterior end of Meckel's cartilage (5.1 mm NL). In the adult, the dentary meets its counterpart anteriorly at the mandibular symphysis. The dentary abuts the retroarticular posteriorly, and it surround the anguloarticular. The dentary is connected to the maxilla by the maxillo-mandibular ligament. Dentary teeth are absent in cypriniforms, but are present in other ostariophysans. Dermal bone that forms the antero-lateral part of the lower jaw. It first appears around the anterior end of Meckel's cartilage (5.1 mm NL). In the adult, the dentary meets its counterpart anteriorly at the mandibular symphysis. The dentary abuts the retroarticular posteriorly, and it surround the anguloarticular. The dentary is connected to the maxilla by the maxillo-mandibular ligament. Dentary teeth are absent in cypriniforms, but are present in other ostariophysans.[accessedResource: ZFA:0000191][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000191 dentary bone dentary bone[accessedResource: ZFA:0000191][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0004742 label: dentary true granular eminence Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain. Brain structure which is paired and part of the vestibulolateralis lobe of the cerebellum and extends fibers into the cerebellar crest. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000212][accessDate: 05-04-2011] EG Tomasz Adamusiak ZFA:0000212 eminentia granularis eminentia granularis[accessedResource: ZFA:0000212][accessDate: 05-04-2011] lateral granular eminence lateral granular eminence[accessedResource: ZFA:0000212][accessDate: 05-04-2011] lateral ethmoid Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales. Large, paired cartilage bones separating the olfactory region from the orbit. Arises from both perichondral and endochondral ossifications (Harrington 1955). Bordered by the mesethmoid anteriorly and overlain by the frontal dorsally, each lateral ethmoid extends medially to meet its fellow posteriorly along the midline. Develops from the laminae orbitonasales.[accessedResource: ZFA:0000226][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000226 lateral ethmoids lateral ethmoids[accessedResource: ZFA:0000226][accessDate: 05-04-2011] mandibular muscle Tomasz Adamusiak ZFA:0000236 mandibular muscles mandibular muscles[accessedResource: ZFA:0000236][accessDate: 05-04-2011] metapterygoid The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit. The metapterygoid is a posterior bone that ossifies in the cartilaginous palatoquadrate arch. It first appears as a rod of bone with an anterodorsally projecting process from the middle of the dorsal surface (6.4 mm). The adult metapterygoid is roughly rectangular in shape with rounded corners and an anterodorsally projecting spine that meets the entopterygoid medially in a synostosis at its posteromedial edge. The posterior end curves dorsally to form the posteroventral surface of the orbit.[accessedResource: ZFA:0000240][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000240 metapterygoids metapterygoids[accessedResource: ZFA:0000240][accessDate: 05-04-2011] obsolete_neuromast Tomasz Adamusiak Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Volcano-shaped lateral line sensory organ located in characteristic positions within the skin epithelium and containing hair cells and their support elements. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000243][accessDate: 05-04-2011] ZFA:0000243 lateral line neuromast lateral line neuromast[accessedResource: ZFA:0000243][accessDate: 05-04-2011] lateral line organ lateral line organ[accessedResource: ZFA:0000243][accessDate: 05-04-2011] neuromasts neuromasts[accessedResource: ZFA:0000243][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0008904 label: neuromast true opercle Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series. Dermal bone that articulates anteriorly with the hyomandibula. The opercle is paired and typically the largest bone of the opercular series.[accessedResource: ZFA:0000250][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000250 opercles opercles[accessedResource: ZFA:0000250][accessDate: 05-04-2011] obsolete_paraxial mesoderm Mesoderm which is lateral to the neural tube on both sides. Mesoderm which is lateral to the neural tube on both sides.[accessedResource: ZFA:0000255][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000255 paraxial mesenchyme Use http://purl.obolibrary.org/obo/UBERON_0003077 label: paraxial mesoderm 2.39 true pectoral fin cartilage Cartilage which is part of the pectoral fin. Cartilage which is part of the pectoral fin.[accessedResource: ZFA:0000257][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000257 pectoral fin cartilages pectoral fin cartilages[accessedResource: ZFA:0000257][accessDate: 05-04-2011] preopercle Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle. Dermal bone that is part of the opercular flap and bears the preopercular sensory canal. The preopercle is a paired bone and typically L-shaped, with the horizontal limb overlying the interopercle and the vertical limb overlying the opercle.[accessedResource: ZFA:0000264][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000264 preopercles preopercles[accessedResource: ZFA:0000264][accessDate: 05-04-2011] hair cell posterior macula Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.) Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)[accessedResource: ZFA:0000281][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000281 sensory hair cells posterior macula sensory hair cells posterior macula[accessedResource: ZFA:0000281][accessDate: 05-04-2011] subopercle Dermal bone lying below the opercle. The subopercle is a paired bone. Dermal bone lying below the opercle. The subopercle is a paired bone.[accessedResource: ZFA:0000284][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000284 subopercles subopercles[accessedResource: ZFA:0000284][accessDate: 05-04-2011] medial octavolateralis nucleus Tomasz Adamusiak ZFA:0000291 medial octavolateralis nuclei medial octavolateralis nuclei[accessedResource: ZFA:0000291][accessDate: 05-04-2011] torus lateralis Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain. Diencephalic nucleus which is part of the caudal tuberculum. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000294][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000294 lateral torus lateral torus[accessedResource: ZFA:0000294][accessDate: 05-04-2011] ventral telencephalon Brain structure which is the ventral part of the telencephalon and is consists of periventricular nuclei surrounding the unpaired median ventricle and those which have migrated away from the ependyma. From Neuroanatomy of the Zebrafish Brain. Brain structure which is the ventral part of the telencephalon and is consists of periventricular nuclei surrounding the unpaired median ventricle and those which have migrated away from the ependyma. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000304][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000304 area ventralis telencephali area ventralis telencephali[accessedResource: ZFA:0000304][accessDate: 05-04-2011] subpallium subpallium[accessedResource: ZFA:0000304][accessDate: 05-04-2011] E-YSL The portion of the YSL that is outside of the blastoderm margin during epiboly. The portion of the YSL that is outside of the blastoderm margin during epiboly.[accessedResource: ZFA:0000309][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000309 external yolk syncytial layer external yolk syncytial layer[accessedResource: ZFA:0000309][accessDate: 05-04-2011] cephalic musculature Tomasz Adamusiak ZFA:0000328 head muscles obsolete_olfactory region Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ. Anatomical cluster that is located in the anterior region of the cranium and provides structural support for the peripheral olfactory organ.[accessedResource: ZFA:0000351][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000351 ethmoid region ethmoid region[accessedResource: ZFA:0000351][accessDate: 05-04-2011] 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0003112 label: olfactory region obsolete_heart tube Cavitated compound organ that will become the adult heart following looping morphogenesis and valve formation. Cavitated compound organ that will become the adult heart following looping morphogenesis and valve formation.[accessedResource: ZFA:0000360][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000360 Use http://purl.obolibrary.org/obo/UBERON_0004141 label: heart tube true 2.39 pterosphenoid Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves. Paired cartilage bones, flat and hexagonal in shape that contact the orbitosphenoid anteriorly. Roofed by the frontal and bordered posteriorly by the prootic and sphenotic, the pterosphenoid bears foramina that accommodate branches of the trigeminal and facial nerves.[accessedResource: ZFA:0000419][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000419 pterosphenoids pterosphenoids[accessedResource: ZFA:0000419][accessDate: 05-04-2011] retroarticular The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly. The retroarticular is a cartilage bone that forms at the posteroventral tip of Meckel's cartilage where the interoperculomandibular ligament attaches (5.1 mm NL). In the adult it is basically triangular in shape. The retroarticular is ligamentously connected to the interopercle and preopercle posteriorly and abuts the ventral shelf of the dentary anteriorly.[accessedResource: ZFA:0000422][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000422 retroarticulars retroarticulars[accessedResource: ZFA:0000422][accessDate: 05-04-2011] anterior lateral line nerve ALLn ALLn[accessedResource: ZFA:0000425][accessDate: 05-04-2011] Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain. Cranial nerve which enters the brain between cranial nerves VI and VII and projects to a dorsal medullary area between cerebellum and vagal lobe. Contains afferents and sensory efferents to the anterior lateral line ganglia. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000425][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000425 nervi lineae lateralis anterioris nervi lineae lateralis anterioris[accessedResource: ZFA:0000425][accessDate: 05-04-2011] rostral lateral line nerve rostral lateral line nerve[accessedResource: ZFA:0000425][accessDate: 05-04-2011] anguloarticular The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate. The anguloarticular is a compound bone that results of the fusion of the dermal angular and the cartilaginous articular and forms the posterior part of the lower jaw. The dermal part ossifies initially on the posterolateral surface of Meckel's cartilage near the articulation with the quadrate (5.5 mm NL). A posterior process forms, creating a synovial joint with the quadrate.[accessedResource: ZFA:0000467][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000467 articular articular[accessedResource: ZFA:0000467][accessDate: 05-04-2011] trunk musculature Tomasz Adamusiak ZFA:0000473 body musculature body musculature[accessedResource: ZFA:0000473][accessDate: 05-04-2011] paraventricular organ Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells. Diencephalic nucleus which is located anterior to the caudal tuberal nucleus and contains tyrosine hydroxylase immunoreactive CSF contacting bipolar cells.[accessedResource: ZFA:0000475][accessDate: 05-04-2011] PVO PVO[accessedResource: ZFA:0000475][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000475 caudal tuberal nucleus Diencephalic nucleus which is located posterior to the paraventricular organ. Diencephalic nucleus which is located posterior to the paraventricular organ.[accessedResource: ZFA:0000482][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000482 posterior tuberal nucleus posterior tuberal nucleus[accessedResource: ZFA:0000482][accessDate: 05-04-2011] dorsal telencephalon Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain. Brain structure which is the dorsal part of the telencephalon, most of which is developmentally everted such that the ependymal lining of the unpaired median ventricle becomes located at the apparent periphery of the telencephalon. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000505][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000505 area dorsalis telencephali area dorsalis telencephali[accessedResource: ZFA:0000505][accessDate: 05-04-2011] dorsal telencephalic area dorsal telencephalic area[accessedResource: ZFA:0000505][accessDate: 05-04-2011] periventricular grey zone Tomasz Adamusiak ZFA:0000516 periventricular grey zones periventricular grey zones[accessedResource: ZFA:0000516][accessDate: 05-04-2011] obsolete_hyoid muscle Tomasz Adamusiak ZFA:0000521 hyoid muscles hyoid muscles[accessedResource: ZFA:0000521][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0005493 label: hyoid muscle true marginal blastomere Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres. Cells (incompletely cleaved before the YSL forms), located at the surface just at the rim of the blastodisc, external to the deep blastomeres.[accessedResource: ZFA:0000541][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000541 marginal blastomeres marginal blastomeres[accessedResource: ZFA:0000541][accessDate: 05-04-2011] posttemporal Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal. Paired fin bone that attaches the pectoral girdle to the skull via two projections contacting the epiotic and intercalar bones, and carry the main laterosensory canal.[accessedResource: ZFA:0000549][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000549 postemporal postemporal[accessedResource: ZFA:0000549][accessDate: 05-04-2011] obsolete_otolith organ Cavitated compound organ that is a fluid filed chamber with a maculae on one surface and associated otolith tethered to the maculae.. Cavitated compound organ that is a fluid filed chamber with a maculae on one surface and associated otolith tethered to the maculae..[accessedResource: ZFA:0000559][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000559 otolith organs otolith organs[accessedResource: ZFA:0000559][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0002518 label: otolith organ 2.39 pectoral fin musculature Tomasz Adamusiak ZFA:0000563 pectoral fin muscle optic primordium Portion of tissue that is part of the anterior neural keel and will form the optic vesicle. Portion of tissue that is part of the anterior neural keel and will form the optic vesicle.[accessedResource: ZFA:0000570][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000570 eye field eye field[accessedResource: ZFA:0000570][accessDate: 05-04-2011] prootic Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves. Paired cartilage bone that contacts the pterosphenoid anteriorly, the sphenotic and the pterotic dorsally, and the epiotic and basioccipital posteriorly. The parasphenoid covers the ventral region of each prootic, the upper edge of which contributes to the hyomandibular facet. Bear foramina that accommodate branches of the trigeminal and facial nerves.[accessedResource: ZFA:0000575][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000575 prootics prootics[accessedResource: ZFA:0000575][accessDate: 05-04-2011] statoacoustic (VIII) ganglion The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.) The sensory ganglion of the ear. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/stato/stato.html'>statoacoustic ganglion</a> by T. Whitfield.)[accessedResource: ZFA:0000588][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000588 auditory ganglion auditory ganglion[accessedResource: ZFA:0000588][accessDate: 05-04-2011] gVIII gVIII[accessedResource: ZFA:0000588][accessDate: 05-04-2011] sag sag[accessedResource: ZFA:0000588][accessDate: 05-04-2011] statoacoustic ganglia statoacoustic ganglia[accessedResource: ZFA:0000588][accessDate: 05-04-2011] torus semicircularis Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input. Multi-tissue structure that is part of the midbrain and develops from the alar plate. The torus semicircularis is located dorsal to the lateral tegmentum where it extends into the medial tectal ventricle and receives ascending sensory octavolateralis input.[accessedResource: ZFA:0000599][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000599 valvula cerebelli Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain. Brain structure which is caudally attached to the rostral medulla oblongata and extends into the tectal ventricle. The valvula cerebelli consists of a granular and a molecular layer along with aggregations of large Purkinje and eurydendroid cells and is uniquely present in ray-finned fishes. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000603][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000603 valvula cerebellum valvula cerebellum[accessedResource: ZFA:0000603][accessDate: 05-04-2011] vertical myoseptum Connective tissue partitions developing between the myotomes. Connective tissue partitions developing between the myotomes.[accessedResource: ZFA:0000610][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000610 transverse myoseptum transverse myoseptum[accessedResource: ZFA:0000610][accessDate: 05-04-2011] quadrate The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei. The quadrate is the dorsal bone in the jaw joint with the anguloarticular of the lower jaw. Ossification of the quadrate, a cartilage bone, begins as a posteriorly projecting membranous spine between the symplectic cartilage and the preopercle (5.1 mm NL). The body of the quadrate ossifies first at the ball-and-socket articulation with the anguloarticular (6.5 mm). The adult quadrate is shaped roughly like an inverted triangle with a long, posteriorly projecting spine off its posteroventral edge. The presence of a posteroventral or posterior process of the quadrate is a synapomorphy of Teleostei.[accessedResource: ZFA:0000621][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000621 quadrates quadrates[accessedResource: ZFA:0000621][accessDate: 05-04-2011] epihyal Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage. Endochondral bone that begins ossifying on the anterior surface of the posterior end of the ceratohyal cartilage near the site of articulation with the interhyal (5.8 mm). It joins the ceratohyal in a pad of persisting cartilage.[accessedResource: ZFA:0000627][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000627 caudal ceratohyal caudal ceratohyal[accessedResource: ZFA:0000627][accessDate: 05-04-2011] posterior ceratohyal posterior ceratohyal[accessedResource: ZFA:0000627][accessDate: 05-04-2011] caudal tuberculum Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain. Brain structure which is part of the diencephalon and is larger than the dorsal thalamus and ventral thalamus. From Neuroanatomy of the Zebrafish Brain.[accessedResource: ZFA:0000633][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000633 posterior tubercle posterior tubercle[accessedResource: ZFA:0000633][accessDate: 05-04-2011] posterior tuberculum posterior tuberculum[accessedResource: ZFA:0000633][accessDate: 05-04-2011] descending octaval nucleus Tomasz Adamusiak ZFA:0000645 nucleus octavus descendens nucleus octavus descendens[accessedResource: ZFA:0000645][accessDate: 05-04-2011] obsolete_dorsal fin musculature Tomasz Adamusiak ZFA:0000648 Use http://purl.obolibrary.org/obo/UBERON_2000648 Label: dorsal fin musculature 2.39 true ectopterygoid The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate. It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate. The ectopterygoid is dermal bone located at the anterior part of the palatoquadrate. It is first visible as a very thin ossification along the anteroventral border of the palatoquadrate cartilage (6.4 mm). In adults it is a long sliver of bone that is narrow anteriorly where it meets the entopterygoid in a synostosis. It is slightly wider at its posterior synostosis with the quadrate.[accessedResource: ZFA:0000656][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000656 ectopterygoids ectopterygoids[accessedResource: ZFA:0000656][accessDate: 05-04-2011] entopterygoid The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL). The entopterygoid is a dermal bone that forms the anteroventral and ventral surface of the orbit. It develops as a long sliver of bone developing in the membrane dorsomedial to the palatoquadrate cartilage (3.8 mm NL).[accessedResource: ZFA:0000657][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000657 endopterygoid endopterygoid[accessedResource: ZFA:0000657][accessDate: 05-04-2011] mesopterygoid mesopterygoid[accessedResource: ZFA:0000657][accessDate: 05-04-2011] obsolete_gill filament Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure. Portion of tissue that projects outward from the gill and is a thread-like, soft, red respiratory and excretory structure.[accessedResource: ZFA:0000667][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000667 gill filaments gill filaments[accessedResource: ZFA:0000667][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0009120 label: gill filament 2.39 horizontal myoseptum A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses. A connective tissue partition developing at the apex of the chevron-shaped myotome and separating dorsal (epaxial) and ventral (hypaxial) body wall muscle masses.[accessedResource: ZFA:0000671][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000671 horizontal septum horizontal septum[accessedResource: ZFA:0000671][accessDate: 05-04-2011] hyomandibula The hyomandibula is the large, dorsal-most member of the hyoid arch. It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints. A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle. The hyomandibula is the large, dorsal-most member of the hyoid arch. It begins ossifying in the dorsal edge of the hyosymplectic cartilage near the hyomandibular foramen (4.6 mm NL). Ossification spreads through the cartilage, and sheets of membrane bone form off the cartilage model anteriorly and posteriorly (6.6 mm). In the adult, the hyomandibula has cartilage-capped anterior and posterior articulating heads that meet the sphenotic-prootic fossa and the pterotic fossa, respectively, in synovial joints. A posterior knob of bone develops, also capped in cartilage, and it forms a synovial joint with the opercle.[accessedResource: ZFA:0000672][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000672 hyomandibular hyomandibular[accessedResource: ZFA:0000672][accessDate: 05-04-2011] interopercle Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone. Dermal bone that is located anterior to the subopercle and lying below and slightly ventral to the horizontal limb of the preopercle. The interopercle is a paired bone.[accessedResource: ZFA:0000674][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000674 interopercles interopercles[accessedResource: ZFA:0000674][accessDate: 05-04-2011] obsolete_segmental intercostal artery Tomasz Adamusiak ZFA:0000677 segmental intercostal arteries segmental intercostal arteries[accessedResource: ZFA:0000677][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_2000677 label: segmental intercostal artery 2.39 hair cell anterior macula Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.) Specialized neuronal receptor cells of the anterior macula. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)[accessedResource: ZFA:0000678][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000678 sensory hair cells anterior macula sensory hair cells anterior macula[accessedResource: ZFA:0000678][accessDate: 05-04-2011] symplectic The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate. The symplectic is an irregularly rod-shaped cartilage replacement bone articulating with the hyomandibular and quadrate.[accessedResource: ZFA:0000692][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000692 symplectics symplectics[accessedResource: ZFA:0000692][accessDate: 05-04-2011] tangential nucleus Tomasz Adamusiak ZFA:0000693 telencephalic ventricle Tomasz Adamusiak ZFA:0000696 lateral ventricle lateral ventricle[accessedResource: ZFA:0000696][accessDate: 05-04-2011] telencephalic vesicle telencephalic vesicle[accessedResource: ZFA:0000696][accessDate: 05-04-2011] I-YSL The portion of the YSL that lies deep to the blastoderm during epiboly. The portion of the YSL that lies deep to the blastoderm during epiboly.[accessedResource: ZFA:0000712][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000712 internal yolk syncytial layer internal yolk syncytial layer[accessedResource: ZFA:0000712][accessDate: 05-04-2011] somite 14 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000726][accessDate: 05-04-2011] ZFA:0000726 somite 2 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000728][accessDate: 05-04-2011] ZFA:0000728 somite 3 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000732][accessDate: 05-04-2011] ZFA:0000732 basal plate midbrain region Portion of tissue that is dorsolateral to the floor plate and part of the midbrain. Portion of tissue that is dorsolateral to the floor plate and part of the midbrain.[accessedResource: ZFA:0000761][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000761 floor plate midbrain floorplate midbrain floor plate rhombomere 2 Floor plate that is part of the rhombomere 2. Floor plate that is part of the rhombomere 2.[accessedResource: ZFA:0000763][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000763 floor plate r2 floor plate r2[accessedResource: ZFA:0000763][accessDate: 05-04-2011] floorplate r2 floorplate r2[accessedResource: ZFA:0000763][accessDate: 05-04-2011] floor plate rhombomere 5 Floor plate that is part of the rhombomere 5. Floor plate that is part of the rhombomere 5.[accessedResource: ZFA:0000764][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000764 floor plate r5 floor plate r5[accessedResource: ZFA:0000764][accessDate: 05-04-2011] floorplate r5 floorplate r5[accessedResource: ZFA:0000764][accessDate: 05-04-2011] floor plate rhombomere 8 Floor plate that is part of the rhombomere 8. Floor plate that is part of the rhombomere 8.[accessedResource: ZFA:0000765][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000765 floor plate r8 floor plate r8[accessedResource: ZFA:0000765][accessDate: 05-04-2011] floorplate r8 floorplate r8[accessedResource: ZFA:0000765][accessDate: 05-04-2011] spinal cord interneuron A CNS interneuron located in the spinal cord. A CNS interneuron located in the spinal cord.[accessedResource: ZFA:0000778][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000778 interneurons spinal cord interneurons spinal cord[accessedResource: ZFA:0000778][accessDate: 05-04-2011] obsolete_mesenchyme derived from head neural crest Tomasz Adamusiak ZFA:0000787 Use http://purl.obolibrary.org/obo/UBERON_0007213 label: mesenchyme derived from head neural crest true 2.39 neural crest diencephalon Cranial neural crest that is part of the diencephalon. Cranial neural crest that is part of the diencephalon.[accessedResource: ZFA:0000811][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000811 diencephalic neural crest diencephalic neural crest[accessedResource: ZFA:0000811][accessDate: 05-04-2011] neural crest telencephalon Cranial neural crest that is part of the telencephalon. Cranial neural crest that is part of the telencephalon.[accessedResource: ZFA:0000812][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000812 infraorbital lateral line neuromast Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the infraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000813][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000813 neuromast infraorbital neuromast infraorbital[accessedResource: ZFA:0000813][accessDate: 05-04-2011] neuromasts infraorbital neuromasts infraorbital[accessedResource: ZFA:0000813][accessDate: 05-04-2011] opercular lateral line neuromast Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the opercular lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000814][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000814 neuromast opercular neuromast opercular[accessedResource: ZFA:0000814][accessDate: 05-04-2011] neuromasts opercular neuromasts opercular[accessedResource: ZFA:0000814][accessDate: 05-04-2011] nucleus of the medial longitudinal fasciculus medulla oblongata Tomasz Adamusiak ZFA:0000815 primary neuron hindbrain Tomasz Adamusiak ZFA:0000821 primary neurons hindbrain primary neurons hindbrain[accessedResource: ZFA:0000821][accessDate: 05-04-2011] obsolete_rhombomere 2 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0000822][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000822 r2 r2[accessedResource: ZFA:0000822][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0005569 label: rhombomere 2 true obsolete_rhombomere 5 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0000823][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000823 r5 r5[accessedResource: ZFA:0000823][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0005515 label: rhombomere 5 true 2.39 slow muscle cell somite 14 Tomasz Adamusiak ZFA:0000841 slow muscle cells somite 14 slow muscle cells somite 14[accessedResource: ZFA:0000841][accessDate: 05-04-2011] somite 12 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000851][accessDate: 05-04-2011] ZFA:0000851 somite 4 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000857][accessDate: 05-04-2011] ZFA:0000857 floor plate rhombomere 1 Floor plate that is part of the rhombomere 1. Floor plate that is part of the rhombomere 1.[accessedResource: ZFA:0000882][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000882 floor plate r1 floor plate r1[accessedResource: ZFA:0000882][accessDate: 05-04-2011] floor plate neural rod Floor plate that is part of the neural rod. Floor plate that is part of the neural rod.[accessedResource: ZFA:0000887][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000887 floorplate neural rod floorplate neural rod[accessedResource: ZFA:0000887][accessDate: 05-04-2011] floor plate rhombomere 3 Floor plate that is part of the rhombomere 3. Floor plate that is part of the rhombomere 3.[accessedResource: ZFA:0000888][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000888 floor plate r3 floor plate r3[accessedResource: ZFA:0000888][accessDate: 05-04-2011] floorplate r3 floorplate r3[accessedResource: ZFA:0000888][accessDate: 05-04-2011] floor plate rhombomere 6 Floor plate that is part of the rhombomere 6. Floor plate that is part of the rhombomere 6.[accessedResource: ZFA:0000889][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000889 floor plate r6 floor plate r6[accessedResource: ZFA:0000889][accessDate: 05-04-2011] floorplate r6 floorplate r6[accessedResource: ZFA:0000889][accessDate: 05-04-2011] floor plate rhombomere 4 Floor plate that is part of the rhombomere 4. Floor plate that is part of the rhombomere 4.[accessedResource: ZFA:0000893][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000893 floor plate r4 floor plate r4[accessedResource: ZFA:0000893][accessDate: 05-04-2011] floorplate r4 floorplate r4[accessedResource: ZFA:0000893][accessDate: 05-04-2011] floor plate rhombomere 7 Floor plate that is part of the rhombomere 7. Floor plate that is part of the rhombomere 7.[accessedResource: ZFA:0000904][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000904 floor plate r7 floor plate r7[accessedResource: ZFA:0000904][accessDate: 05-04-2011] floorplate r7 floorplate r7[accessedResource: ZFA:0000904][accessDate: 05-04-2011] obsolete_lateral mesenchyme derived from mesoderm Tomasz Adamusiak ZFA:0000905 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007683 label: lateral mesenchyme derived from mesoderm true neural crest midbrain Neural crest that is part of the midbrain. Neural crest that is part of the midbrain.[accessedResource: ZFA:0000935][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000935 mesencephalic neural crest mesencephalic neural crest[accessedResource: ZFA:0000935][accessDate: 05-04-2011] obsolete_middle lateral line neuromast Neuromast that is part of the middle lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the middle lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000939][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000939 neuromast middle neuromast middle[accessedResource: ZFA:0000939][accessDate: 05-04-2011] neuromasts middle neuromasts middle[accessedResource: ZFA:0000939][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_2000939 label: middle lateral line neuromast true 2.39 posterior lateral line neuromast Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the posterior lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000940][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000940 neuromast posterior neuromast posterior[accessedResource: ZFA:0000940][accessDate: 05-04-2011] neuromasts posterior neuromasts posterior[accessedResource: ZFA:0000940][accessDate: 05-04-2011] obsolete_pectoral fin skeleton Skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid. Skeleton that consists of the supporting endochondral proximal and distal radials and the dermal fins rays or lepidotrichia. The pectoral fin skeleton is located in the thoracic region of the body and articulates with the scapula and coracoid.[accessedResource: ZFA:0000943][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000943 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0010710 label: pectoral fin skeleton obsolete_posterior lateral line One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) One of eight distinct lateral lines in the 4-day larva. A sensory system on the surface of the fish, consisting of small sensory patches (neuromasts) distributed in discrete lines over the body surface. The lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. (See Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0000944][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000944 pll pll[accessedResource: ZFA:0000944][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0006334 label: posterior lateral line obsolete_rhombomere 3 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0000948][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000948 r3 r3[accessedResource: ZFA:0000948][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0005507 label: rhombomere 3 2.39 true obsolete_rhombomere 7 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0000949][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0000949 r7 r7[accessedResource: ZFA:0000949][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0005523 labeel: rhombomere 7 2.39 slow muscle cell somite 1 Tomasz Adamusiak ZFA:0000963 slow muscle cells somite 1 slow muscle cells somite 1[accessedResource: ZFA:0000963][accessDate: 05-04-2011] slow muscle cell somite 4 Tomasz Adamusiak ZFA:0000972 slow muscle cells somite 4 slow muscle cells somite 4[accessedResource: ZFA:0000972][accessDate: 05-04-2011] slow muscle cell somite 7 Tomasz Adamusiak ZFA:0000973 slow muscle cells somite 7 slow muscle cells somite 7[accessedResource: ZFA:0000973][accessDate: 05-04-2011] somite 13 Tomasz Adamusiak Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome. Undifferentiated mesodermal component of early trunk or tail segment or metamere, derived from paraxial mesoderm; forms the myotome, sclerotome and perhaps dermatome.[accessedResource: ZFA:0000975][accessDate: 05-04-2011] ZFA:0000975 lateral wall spinal cord Tomasz Adamusiak ZFA:0000996 mesenchyme derived from head mesoderm Tomasz Adamusiak ZFA:0000998 obsolete_mesenchyme pectoral fin Tomasz Adamusiak ZFA:0001000 mesenchyme pectoral fins mesenchyme pectoral fins[accessedResource: ZFA:0001000][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0003934 label: mesenchyme pectoral fin true obsolete_trunk neural crest Tomasz Adamusiak ZFA:0001024 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0003083 label: trunk neural crest obsolete_occipital lateral line neuromast Neuromast that is part of the occipital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the occipital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0001025][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001025 neuromast occipital neuromast occipital[accessedResource: ZFA:0001025][accessDate: 05-04-2011] neuromasts occipital neuromasts occipital[accessedResource: ZFA:0001025][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_2001025 label: occipital lateral line neuromast obsolete_supraorbital lateral line neuromast Neuromast that is part of the supraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.) Neuromast that is part of the supraorbital lateral line. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/lat_line/lat_line.html'>lateral line</a> by T. Whitfield.)[accessedResource: ZFA:0001026][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001026 neuromast supraorbital neuromast supraorbital[accessedResource: ZFA:0001026][accessDate: 05-04-2011] neuromasts supraorbital neuromasts supraorbital[accessedResource: ZFA:0001026][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_2001026 label: supraorbital lateral line neuromast true 2.39 obsolete_rhombomere 1 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0001031][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001031 r1 r1[accessedResource: ZFA:0001031][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0005499 label: rhombomere 1 obsolete_rhombomere 4 Hindbrain segment or neuromere. Hindbrain segment or neuromere.[accessedResource: ZFA:0001032][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001032 r4 r4[accessedResource: ZFA:0001032][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0005511 label: rhombomere 4 2.39 slow muscle cell somite 10 Tomasz Adamusiak ZFA:0001047 slow muscle cells somite 10 slow muscle cells somite 10[accessedResource: ZFA:0001047][accessDate: 05-04-2011] caudal division of the internal carotid artery CaDI CaDI[accessedResource: ZFA:0001051][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001051 primitive internal carotid artery PICA PICA[accessedResource: ZFA:0001053][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001053 lateral dorsal aorta Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta. Connect the outflow of the aortic arches to the dorsal aorta. The place where the lateral dorsal aorta fuse is called the radix of the aorta.[accessedResource: ZFA:0001054][accessDate: 05-04-2011] LDA LDA[accessedResource: ZFA:0001054][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001054 cranial division of the internal carotid artery CrDI CrDI[accessedResource: ZFA:0001059][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001059 rostral division of the internal carotid artery rostral division of the internal carotid artery[accessedResource: ZFA:0001059][accessDate: 05-04-2011] obsolete_primitive mesencephalic artery Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundary Branches dorsally from the cranial division of the internal carotid artery, then curves caudally along the dorsal medial wall of the eye capsule to drain into the PMBC just rostral to the midbrain hindbrain boundary[accessedResource: ZFA:0001062][accessDate: 05-04-2011] PMsA PMsA[accessedResource: ZFA:0001062][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001062 true Use http://purl.obolibrary.org/obo/UBERON_2001062 label: primitive mesencephalic artery 2.39 posterior caudal vein Tomasz Adamusiak ZFA:0001063 obsolete_rhombomere A segment of the developing hindbrain. A segment of the developing hindbrain.[accessedResource: ZFA:0001064][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001064 hindbrain segment hindbrain segment[accessedResource: ZFA:0001064][accessDate: 05-04-2011] neuromere rhombomeres rhombomeres[accessedResource: ZFA:0001064][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0001892 label: rhombomere obsolete_neural arch A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone. A neural arch encloses the neural canal and typically meets its partner to form a neural spine. The neural arch can be a replacement ossification of the basidorsal cartilage or can form directly in membrane bone.[accessedResource: ZFA:0001066][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001066 dorsal arcocentrum dorsal arcocentrum[accessedResource: ZFA:0001066][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0003861 label: neural arch obsolete_presumptive pronephric mesoderm Tomasz Adamusiak ZFA:0001070 nephron primordium nephron primordium[accessedResource: ZFA:0001070][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0007297 label: presumptive pronephric mesoderm true 2.39 axial vasculature Tomasz Adamusiak ZFA:0001073 intestinal bulb This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area. This anteriormost portion of the intestine has the most digestive enzymes and the greatest epithelial surface area.[accessedResource: ZFA:0001076][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001076 anterior intestine anterior intestine[accessedResource: ZFA:0001076][accessDate: 05-04-2011] obsolete_thymus primordium A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production. A small outgrowth of the pharyngeal epithelium that is the site of lymphocyte cell production.[accessedResource: ZFA:0001077][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001077 thymic rudiment thymic rudiment[accessedResource: ZFA:0001077][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0005562 label: thymus primodium true 2.39 obsolete_chordo neural hinge Portion of tissue that is posterior to the developing notochord during tail bud extension. Portion of tissue that is posterior to the developing notochord during tail bud extension.[accessedResource: ZFA:0001082][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001082 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007097 label: chordo neural hinge true obsolete_ventricular zone Proliferative region that is part of the ventricular system. Proliferative region that is part of the ventricular system.[accessedResource: ZFA:0001083][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001083 ventricular zones ventricular zones[accessedResource: ZFA:0001083][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0003053 label: ventricular zone true 2.39 myoseptum Tomasz Adamusiak ZFA:0001089 myosepta myosepta[accessedResource: ZFA:0001089][accessDate: 05-04-2011] pharyngeal endoderm Tomasz Adamusiak ZFA:0001104 obsolete_pharyngeal pouch Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits. Outpocketings of pharyngeal endoderm that interdigitate with the neural crest derived pharyngeal arches. The pouches later fuse with the surface ectoderm to form the gill slits.[accessedResource: ZFA:0001106][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001106 pharyngeal pouches pharyngeal pouches[accessedResource: ZFA:0001106][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0004117 label: pharyngeal pouch 2.39 true granulosa cell layer Tomasz Adamusiak ZFA:0001112 granulosa cell layers granulosa cell layers[accessedResource: ZFA:0001112][accessDate: 05-04-2011] thecal cell layer Tomasz Adamusiak ZFA:0001113 thecal cell layers thecal cell layers[accessedResource: ZFA:0001113][accessDate: 05-04-2011] urogenital papilla A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed. A protuberance in front of the gential pore and behind the vent. Mature females have a well developed urogenital papillae whilst in mature males it is poorly developed.[accessedResource: ZFA:0001118][accessDate: 05-04-2011] Tomasz Adamusiak UGP UGP[accessedResource: ZFA:0001118][accessDate: 05-04-2011] ZFA:0001118 anal papilla anal papilla[accessedResource: ZFA:0001118][accessDate: 05-04-2011] anal papillae anal papillae[accessedResource: ZFA:0001118][accessDate: 05-04-2011] genital papilla genital papilla[accessedResource: ZFA:0001118][accessDate: 05-04-2011] urogenital papillae urogenital papillae[accessedResource: ZFA:0001118][accessDate: 05-04-2011] obsolete_pharyngeal pouch 1 Tomasz Adamusiak ZFA:0001128 pharyngeal pouches 1 pharyngeal pouches 1[accessedResource: ZFA:0001128][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0007122 label: pharyngeal pouch 1 2.39 pharyngeal pouches 2-6 Tomasz Adamusiak ZFA:0001129 obsolete_pharyngeal pouch 2 Tomasz Adamusiak ZFA:0001130 pharyngeal pouches 2 pharyngeal pouches 2[accessedResource: ZFA:0001130][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0007123 label: pharyngeal pouch 2 2.39 obsolete_pharyngeal pouch 3 Tomasz Adamusiak ZFA:0001131 pharyngeal pouches 3 pharyngeal pouches 3[accessedResource: ZFA:0001131][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0007124 label: pharyngeal pouch 3 2.39 true obsolete_pharyngeal pouch 6 Tomasz Adamusiak ZFA:0001132 pharyngeal pouches 6 pharyngeal pouches 6[accessedResource: ZFA:0001132][accessDate: 05-04-2011] 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0007127 labe: pharyngeal pouch 6 obsolete_pharyngeal pouch 5 Tomasz Adamusiak ZFA:0001133 pharyngeal pouches 5 pharyngeal pouches 5[accessedResource: ZFA:0001133][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0007126 label: pharyngeal pouch 5 obsolete_pharyngeal pouch 4 Tomasz Adamusiak ZFA:0001134 pharyngeal pouches 4 pharyngeal pouches 4[accessedResource: ZFA:0001134][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0007125 label: pharyngeal pouch 4 2.39 true tooth 5V Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row. Ceratobranchial 5 tooth which is the posteriormost tooth in the ventral tooth row.[accessedResource: ZFA:0001142][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001142 tooth 4V Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row. Ceratobranchial 5 tooth which is posterior to tooth 3V and anterior to tooth 5V in the ventral tooth row.[accessedResource: ZFA:0001143][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001143 tooth 3V Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row. Ceratobranchial 5 tooth which is posterior to tooth 2V and anterior to tooth 4V in the ventral tooth row.[accessedResource: ZFA:0001145][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001145 posterior lateral line primordium A migrating group of cells originating from the posterior lateral line placode. The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail. A migrating group of cells originating from the posterior lateral line placode. The primordium deposits seven to nine neuromasts and interneuromasts between them during its posterior migration to the tail.[accessedResource: ZFA:0001157][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001157 posterior lateral line primordia posterior lateral line primordia[accessedResource: ZFA:0001157][accessDate: 05-04-2011] anal fin Tomasz Adamusiak ZFA:0001162 non neural ectoderm Tomasz Adamusiak ZFA:0001178 ventral ectoderm ventral ectoderm[accessedResource: ZFA:0001178][accessDate: 05-04-2011] obsolete_pelvic fin Tomasz Adamusiak ZFA:0001184 pelvic fins pelvic fins[accessedResource: ZFA:0001184][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0000152 label: pelvic fin true obsolete_cranial neural crest Neural crest that is part of the head. Neural crest that is part of the head.[accessedResource: ZFA:0001194][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001194 Use http://purl.obolibrary.org/obo/UBERON_0003099 label: cranial neural crest 2.39 true corpuscles of Stannius Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism. Islands of eosinic cells found on the lateroventral surface of the kidney. Function is thought to be that of the parathyroid gland in other vertebrates, which are lacking in fishes. These cells secrete hypocalcin (teleocalcin) to regulate calcium metabolism.[accessedResource: ZFA:0001200][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001200 obsolete_axial mesoderm Tomasz Adamusiak ZFA:0001204 true Use http://purl.obolibrary.org/obo/UBERON_0003068 label: axial mesoderm 2.39 epibranchial 5 Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4. Epibranchial cartilage that is bilaterally paired and appears as a separate center of chondrification (6.2 mm) posterior to the lateral tip of epibranchial 4 and immediately anterior to the upper end of ceratobranchial 5. In the adult, epibranchial 5 persists as a small, cartilaginous rod extending from the cartilaginous junction of the posterodorsal tip of the uncinate process of epibranchial 4 and tip of ceratobranchial 5, to the cartilaginous junction of ceratobranchial 4 and epibranchial 4.[accessedResource: ZFA:0001244][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001244 interbranchial IV interbranchial IV[accessedResource: ZFA:0001244][accessDate: 05-04-2011] lateral floor plate Portion of tissue that is the lateral part of the floor plate. Portion of tissue that is the lateral part of the floor plate.[accessedResource: ZFA:0001256][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001256 ventricular system Tomasz Adamusiak ZFA:0001261 obsolete_gonad primordium Portion of tissue that gives rise to the immature gonad. Portion of tissue that gives rise to the immature gonad.[accessedResource: ZFA:0001262][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001262 gonadal primordium gonadal primordium[accessedResource: ZFA:0001262][accessDate: 05-04-2011] undifferentiated gonad undifferentiated gonad[accessedResource: ZFA:0001262][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0005564 label: gonad primordium ovarian follicle stage I Stage I follicles (less than 140 microns) are primary growth stage. Stage I follicles (less than 140 microns) are primary growth stage.[accessedResource: ZFA:0001263][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001263 previtillogenic ovarian follicle previtillogenic ovarian follicle[accessedResource: ZFA:0001263][accessDate: 05-04-2011] ovarian follicle stage IV Stage IV (690-730 microns) are oocyte maturation. Stage IV (690-730 microns) are oocyte maturation.[accessedResource: ZFA:0001264][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001264 mature ovarian follicle mature ovarian follicle[accessedResource: ZFA:0001264][accessDate: 05-04-2011] ovarian follicle stage II Stage II follicles (140-340 microns) are cortical alveolus stage. Stage II follicles (140-340 microns) are cortical alveolus stage.[accessedResource: ZFA:0001265][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001265 ovarian follicles stage II ovarian follicles stage II[accessedResource: ZFA:0001265][accessDate: 05-04-2011] ovarian follicle stage III Stage III (340-690 microns) are vitellogenesis. Stage III (340-690 microns) are vitellogenesis.[accessedResource: ZFA:0001266][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001266 ovarian follicles stage III ovarian follicles stage III[accessedResource: ZFA:0001266][accessDate: 05-04-2011] cranial vasculature Tomasz Adamusiak ZFA:0001267 head vasculature head vasculature[accessedResource: ZFA:0001267][accessDate: 05-04-2011] regenerating fin Tomasz Adamusiak ZFA:0001269 regenerating fins regenerating fins[accessedResource: ZFA:0001269][accessDate: 05-04-2011] obsolete_blastema A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise. A regenerating tissue composed of a proliferative mass of undifferentiated progenitor cells from which new differentiated structures arise.[accessedResource: ZFA:0001270][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001270 regeneration blastema regeneration blastema[accessedResource: ZFA:0001270][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0005306 label: blastema true obsolete_palatoquadrate arch The dorsal portion of the first pharyngeal arch, comprising the upper jaw. The dorsal portion of the first pharyngeal arch, comprising the upper jaw.[accessedResource: ZFA:0001272][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001272 dorsal mandibular arch dorsal mandibular arch[accessedResource: ZFA:0001272][accessDate: 05-04-2011] dorsal visceral arch 1 dorsal visceral arch 1[accessedResource: ZFA:0001272][accessDate: 05-04-2011] upper jaw upper jaw[accessedResource: ZFA:0001272][accessDate: 05-04-2011] upper pharyngeal jaw upper pharyngeal jaw[accessedResource: ZFA:0001272][accessDate: 05-04-2011] 2.39 Use http://purl.obolibrary.org/obo/UBERON_0011085 label: palatoquadrate arch true ventral mandibular arch The ventral portion of the first pharyngeal arch, comprising the lower jaw. The ventral portion of the first pharyngeal arch, comprising the lower jaw.[accessedResource: ZFA:0001273][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001273 lower jaw lower jaw[accessedResource: ZFA:0001273][accessDate: 05-04-2011] mandible mandible[accessedResource: ZFA:0001273][accessDate: 05-04-2011] mandibular series mandibular series[accessedResource: ZFA:0001273][accessDate: 05-04-2011] branchiostegal ray 1 Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL). Branchiostegal ray that is the most anterior ray which ossifies last (5.5 mm NL).[accessedResource: ZFA:0001279][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001279 branchiostegal rays 1 branchiostegal rays 1[accessedResource: ZFA:0001279][accessDate: 05-04-2011] branchiostegal ray 3 Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL). Branchiostegal ray that is the most posterior ray which ossifies first (3.4 mm NL).[accessedResource: ZFA:0001280][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001280 branchiostegal rays 3 branchiostegal rays 3[accessedResource: ZFA:0001280][accessDate: 05-04-2011] branchiostegal ray 2 Branchiostegal ray 2 is between rays 1 and 3 and ossifies second. Branchiostegal ray 2 is between rays 1 and 3 and ossifies second.[accessedResource: ZFA:0001281][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001281 branchiostegal rays 2 branchiostegal rays 2[accessedResource: ZFA:0001281][accessDate: 05-04-2011] intersegmental vessel Tomasz Adamusiak ZFA:0001285 intersegmental vessels intersegmental vessels[accessedResource: ZFA:0001285][accessDate: 05-04-2011] intersomitic vessels intersomitic vessels[accessedResource: ZFA:0001285][accessDate: 05-04-2011] segmental vessel segmental vessel[accessedResource: ZFA:0001285][accessDate: 05-04-2011] caudal vein plexus Tomasz Adamusiak ZFA:0001286 renal tubule Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct. Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste. Renal duct that collects filtrate from the renal corpuscle and transports it to the collecting duct. Different parts of the renal tubule reabsorb specific components of the filtrate to leave only waste.[accessedResource: ZFA:0001287][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001287 mesonephric tubule mesonephric tubule[accessedResource: ZFA:0001287][accessDate: 05-04-2011] renal tubules renal tubules[accessedResource: ZFA:0001287][accessDate: 05-04-2011] obsolete_renal glomerulus The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes, filters blood from the glomerular capillaries. The multi-tissue structure where the glomerular basement membrane supported by mesonephric podocytes, filters blood from the glomerular capillaries.[accessedResource: ZFA:0001288][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001288 glomerular capillary tuft renal glomeruli renal glomeruli[accessedResource: ZFA:0001288][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0000074 label: renal glomerulus 2.39 true obsolete_ciliary marginal zone CMZ CMZ[accessedResource: ZFA:0001289][accessDate: 05-04-2011] Proliferative region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth. Proliferative region at the periphery of the retina where retinal stem cells are located. After 60 hpf, the CMZ is the source of most retinal growth.[accessedResource: ZFA:0001289][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001289 circumferential germinal zone circumferential germinal zone[accessedResource: ZFA:0001289][accessDate: 05-04-2011] peripheral growth zone peripheral growth zone[accessedResource: ZFA:0001289][accessDate: 05-04-2011] retinal ciliary marginal zone retinal ciliary marginal zone[accessedResource: ZFA:0001289][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0003065 label: ciliary marginal zone facial ganglion The sensory ganglion of the facial nerve. The sensory ganglion of the facial nerve.[accessedResource: ZFA:0001291][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001291 gVII gVII[accessedResource: ZFA:0001291][accessDate: 05-04-2011] geniculate ganglion geniculate ganglion[accessedResource: ZFA:0001291][accessDate: 05-04-2011] vagal ganglion 1 Tomasz Adamusiak ZFA:0001302 gX1 gX1[accessedResource: ZFA:0001302][accessDate: 05-04-2011] nodose ganglion 1 nodose ganglion 1[accessedResource: ZFA:0001302][accessDate: 05-04-2011] vagal ganglion 2 Tomasz Adamusiak ZFA:0001303 gX2 gX2[accessedResource: ZFA:0001303][accessDate: 05-04-2011] nodose ganglion 2 nodose ganglion 2[accessedResource: ZFA:0001303][accessDate: 05-04-2011] vagal ganglion 3 Tomasz Adamusiak ZFA:0001304 gX3 gX3[accessedResource: ZFA:0001304][accessDate: 05-04-2011] nodose ganglion 3 nodose ganglion 3[accessedResource: ZFA:0001304][accessDate: 05-04-2011] vagal ganglion 4 Tomasz Adamusiak ZFA:0001305 gX4 gX4[accessedResource: ZFA:0001305][accessDate: 05-04-2011] nodose ganglion 4 nodose ganglion 4[accessedResource: ZFA:0001305][accessDate: 05-04-2011] obsolete_dorsal anterior lateral line ganglion Tomasz Adamusiak ZFA:0001312 anterodorsal lateral line ganglion anterodorsal lateral line ganglion[accessedResource: ZFA:0001312][accessDate: 05-04-2011] true 2.39 Use: http://purl.obolibrary.org/obo/UBERON_2001312 label: dorsal anterior lateral line ganglion ventral anterior lateral line ganglion Tomasz Adamusiak ZFA:0001313 anteroventral lateral line ganglion anteroventral lateral line ganglion[accessedResource: ZFA:0001313][accessDate: 05-04-2011] posterior lateral line ganglion The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system. The posterior lateral line ganglion develops from a cranial ectodermal placode and contains sensory neurons that innervate the posterior lateral line system.[accessedResource: ZFA:0001314][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001314 posterior lateral line ganglia posterior lateral line ganglia[accessedResource: ZFA:0001314][accessDate: 05-04-2011] obsolete_neurocranial trabecula Tomasz Adamusiak ZFA:0001321 neurocranial trabeculae neurocranial trabeculae[accessedResource: ZFA:0001321][accessDate: 05-04-2011] trabecula trabecula[accessedResource: ZFA:0001321][accessDate: 05-04-2011] trabecular cartilage trabecular cartilage[accessedResource: ZFA:0001321][accessDate: 05-04-2011] true 2.39 Use http://purl.obolibrary.org/obo/UBERON_0005945 label: neurocranial trabecula obsolete_terminal nerve The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest. The terminal nerve, located anterior to cranial nerve I, is comprised of a group of cells with somata adjacent to the olfactory bulb and processes that extend anteriorly to the olfactory epithelium and posteriorly to the telencephalon. In teleost fish an additional group of axons extends along the optic tract and delivers putative neuromodulators to the retina. It is thought to develop from cranial neural crest.[accessedResource: ZFA:0001356][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001356 nervus terminalis nervus terminalis[accessedResource: ZFA:0001356][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0002924 label: terminal nerve true 2.39 pineal complex Tomasz Adamusiak ZFA:0001359 axial hypoblast Tomasz Adamusiak ZFA:0001378 apical ectodermal ridge pelvic fin bud Apical ectodermal ridge that is part of the pelvic fin bud. Apical ectodermal ridge that is part of the pelvic fin bud.[accessedResource: ZFA:0001385][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001385 apical ectodermal ridge pelvic fin buds apical ectodermal ridge pelvic fin buds[accessedResource: ZFA:0001385][accessDate: 05-04-2011] regeneration epithelium Tomasz Adamusiak ZFA:0001389 epidermal cap epidermal cap[accessedResource: ZFA:0001389][accessDate: 05-04-2011] wound epidermis wound epidermis[accessedResource: ZFA:0001389][accessDate: 05-04-2011] wound epithelium wound epithelium[accessedResource: ZFA:0001389][accessDate: 05-04-2011] anterior lateral line ganglion The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system. The anterior lateral line ganglia develops from cranial ectodermal placodes and contain sensory neurons that innervate the anterior lateral line system.[accessedResource: ZFA:0001391][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001391 anterior lateral line ganglia anterior lateral line ganglia[accessedResource: ZFA:0001391][accessDate: 05-04-2011] ventral hyoid arch Tomasz Adamusiak ZFA:0001402 ventral visceral arch 2 ventral visceral arch 2[accessedResource: ZFA:0001402][accessDate: 05-04-2011] obsolete_ethmoid cartilage Bilaterally paired neurocranium cartilage which is initially plate-like and formed from the anterior fusion between the bilaterally paired trabecula cranii. It grows dorsally between the laminae orbitonasales to attain a complex shape. Bilaterally paired neurocranium cartilage which is initially plate-like and formed from the anterior fusion between the bilaterally paired trabecula cranii. It grows dorsally between the laminae orbitonasales to attain a complex shape.[accessedResource: ZFA:0001405][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001405 ethmoid plate ethmoid plate[accessedResource: ZFA:0001405][accessDate: 05-04-2011] Use http://purl.obolibrary.org/obo/UBERON_0011242 label: ethmoid cartilage true 2.39 hyosymplectic cartilage Bilaterally paired large cartilage that articulates with the chondrocranium dorsally, the opercle posteriorly, and the palatoquadrate cartilage anteriorly. Bilaterally paired large cartilage that articulates with the chondrocranium dorsally, the opercle posteriorly, and the palatoquadrate cartilage anteriorly.[accessedResource: ZFA:0001422][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001422 hyomandibular cartilage hyomandibular cartilage[accessedResource: ZFA:0001422][accessDate: 05-04-2011] primitive olfactory epithelium Tomasz Adamusiak ZFA:0001431 floor plate neural tube Floor plate that is part of the neural tube. Floor plate that is part of the neural tube.[accessedResource: ZFA:0001434][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001434 obsolete_pharyngeal arch cartilage Tomasz Adamusiak ZFA:0001460 pharyngeal arch cartilages pharyngeal arch cartilages[accessedResource: ZFA:0001460][accessDate: 05-04-2011] splanchnocranium cartilage splanchnocranium cartilage[accessedResource: ZFA:0001460][accessDate: 05-04-2011] 2.38 Use http://purl.obolibrary.org/obo/UBERON_0011004 label: pharyngeal arch cartilage true chondrocranium cartilage Tomasz Adamusiak ZFA:0001461 neurocranium cartilage neurocranium cartilage[accessedResource: ZFA:0001461][accessDate: 05-04-2011] anterior lateral line system The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. The anterior lateral line system develops from cranial ectodermal placodes, situated between the eye and the ear, that give rise to both the neuromasts and the anterior lateral line sensory nerves that innervate the neuromasts. The anterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians and are innervated by several lateral line nerves, which project to the hindbrain. The anterior lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.[accessedResource: ZFA:0001468][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001468 posterior lateral line system The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance. The posterior lateral line system develops from cranial ectodermal placodes, situated behind the ear, that give rise to both the neuromasts and the posterior lateral line sensory nerves that innervate the neuromasts. The posterior lateral line system consists of small sensory patches (neuromasts) located superficially on the skin or just under the skin in fluid-filled canals on the head of all fishes and most amphibians. The neuromasts are innervated by several lateral line nerves, which project primarily to the hindbrain. The posterior mechanosensory lateral line system is stimulated by local water displacements and vibrations, and detects propulsion of the fish through the water, as well as facilitating shoaling, prey capture, and predator and obstacle avoidance.[accessedResource: ZFA:0001471][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001471 superficial blastomere Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres. Cells (completely cleaved), located at the surface of the blastodisc, above the deep blastomeres.[accessedResource: ZFA:0001484][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0001484 superficial blastomeres superficial blastomeres[accessedResource: ZFA:0001484][accessDate: 05-04-2011] pharyngeal arch 3-7 Tomasz Adamusiak ZFA:0001613 branchial arch branchial arch[accessedResource: ZFA:0001613][accessDate: 05-04-2011] branchial arches branchial arches[accessedResource: ZFA:0001613][accessDate: 05-04-2011] branchial bar branchial bar[accessedResource: ZFA:0001613][accessDate: 05-04-2011] branchial bars branchial bars[accessedResource: ZFA:0001613][accessDate: 05-04-2011] gill arch gill arch[accessedResource: ZFA:0001613][accessDate: 05-04-2011] gill arches 1-5 gill arches 1-5[accessedResource: ZFA:0001613][accessDate: 05-04-2011] visceral arches 3-7 visceral arches 3-7[accessedResource: ZFA:0001613][accessDate: 05-04-2011] obsolete_aortic arch Artery that is part of the pharyngeal arches. Artery that is part of the pharyngeal arches.[accessedResource: ZFA:0005004][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005004 aortic arches aortic arches[accessedResource: ZFA:0005004][accessDate: 05-04-2011] branchial aortic arches branchial aortic arches [accessedResource: ZFA:0005004][accessDate: 05-04-2011] http://www.ebi.ac.uk/efo/EFO_0002526 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0004363 label: aortic arch mid cerebral vein MCeV MCeV[accessedResource: ZFA:0005010][accessDate: 05-04-2011] The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC). The mesencephalic veins (MsV) enter the mid cerebral veins (MCeV) at the dorsal midline. THe MCeVs originate at the dorsal midline, proceed laterally in a ventral direction to drain into the paired primordial midbrain channels (PHBC).[accessedResource: ZFA:0005010][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005010 mid-cerebral vein mid-cerebral vein[accessedResource: ZFA:0005010][accessDate: 05-04-2011] middle cerebral vein middle cerebral vein[accessedResource: ZFA:0005010][accessDate: 05-04-2011] primordial midbrain channel PMBC PMBC[accessedResource: ZFA:0005017][accessDate: 05-04-2011] The vessel between the anterior cerebral vein and the mid cerebral vein. The vessel between the anterior cerebral vein and the mid cerebral vein.[accessedResource: ZFA:0005017][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005017 dorsal longitudinal anastomotic vessel DLAV DLAV[accessedResource: ZFA:0005025][accessDate: 05-04-2011] Tomasz Adamusiak Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf. The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata. In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV. Trunk vessel that runs medially along the dorsal-most portion of the trunk and post-vent region. The DLAVs are formed by the longitudinal anastamoses of the intersegmental vessels to form a right and left pair of dorsal longitudinal anastamotic vessels. These paired vessels remodel to form a single plexiform vessel beginning at 3dpf continuing until after 7dpf. The basilar artery connects to the DLAVs at the caudal end of the medulla oblongata. In the early embryo (2.5-3.5 dpf) the primitive hindbrain channels also connect to the DLAV.[accessedResource: ZFA:0005025][accessDate: 05-04-2011] ZFA:0005025 ventral wall of dorsal aorta AGM DA roof DA-PCV joint DA-PCV joint [accessedResource: ZFA:0005028][accessDate: 05-04-2011] DP joint DP joint[accessedResource: ZFA:0005028][accessDate: 05-04-2011] Region where blood progenitor markers are expressed. Probable site of definitive hematopoiesis between 36hpf and 4dpf. Region where blood progenitor markers are expressed. Probable site of definitive hematopoiesis between 36hpf and 4dpf.[accessedResource: ZFA:0005028][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005028 aorta gonad mesonephros region aorta gonad mesonephros region[accessedResource: ZFA:0005028][accessDate: 05-04-2011] dorsal aorta - posterior cardinal vein joint dorsal aorta - posterior cardinal vein joint[accessedResource: ZFA:0005028][accessDate: 05-04-2011] rostral blood island Hematopoietic tissue derived from the cephalic mesoderm. Predominantly produces myeloid cells. Hematopoietic tissue derived from the cephalic mesoderm. Predominantly produces myeloid cells.[accessedResource: ZFA:0005029][accessDate: 05-04-2011] RBI RBI[accessedResource: ZFA:0005029][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005029 anterior myeloid compartment parachordal vessel PAV PAV[accessedResource: ZFA:0005034][accessDate: 05-04-2011] Tomasz Adamusiak Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf. Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf.[accessedResource: ZFA:0005034][accessDate: 05-04-2011] ZFA:0005034 anterior lateral mesoderm ALM ALM[accessedResource: ZFA:0005039][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005039 posterior lateral mesoderm PLM PLM[accessedResource: ZFA:0005040][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005040 obsolete_anterior lateral plate mesoderm ALPM ALPM[accessedResource: ZFA:0005041][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005041 2.39 true Use http://purl.obolibrary.org/obo/UBERON_0009881 label: anterior lateral plate mesoderm obsolete_posterior lateral plate mesoderm PLPM PLPM[accessedResource: ZFA:0005042][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005042 Use http://purl.obolibrary.org/obo/UBERON_0009910 label: posterior lateral plate mesoderm 2.39 true trabecular layer The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences. The layer of the myocardium composed of projections of contractile myocytes. The trabecular layer is bounded internally by the endocardium. Unlike the trabeculations of higher vertebrates, both atrial and ventricular trabeculae of the zebrafish have more strut-like character, and are more uniform without apparent regional differences.[accessedResource: ZFA:0005059][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005059 trabecula atrioventricular ring A ring of conduction tissue that forms in the atrioventricular canal. A ring of conduction tissue that forms in the atrioventricular canal.[accessedResource: ZFA:0005073][accessDate: 05-04-2011] AV ring AV ring[accessedResource: ZFA:0005073][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005073 primordial vasculature Is a portion of tissue that will develop into vasculature. Is a portion of tissue that will develop into vasculature.[accessedResource: ZFA:0005076][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005076 obsolete_vascular cord The primordial vasculature that will develop into blood vessels by the process of tubulogenesis. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels. The primordial vasculature that will develop into blood vessels by the process of tubulogenesis. The vascular cord is composed of angioblast or vascular endothelial cells in a solid linear mass called a cord. The cord then undergoes tubulogenesis to form the lumen of the vessels.[accessedResource: ZFA:0005077][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005077 Use http://purl.obolibrary.org/obo/UBERON_0006965 label: vascular cord 2.39 true anterior lateral line primordium A migrating group of cells originating from an anterior lateral line placode. The primordium deposits neuromasts and interneuromasts between them during its migration. A migrating group of cells originating from an anterior lateral line placode. The primordium deposits neuromasts and interneuromasts between them during its migration.[accessedResource: ZFA:0005117][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0005117 anterior lateral line primordia anterior lateral line primordia[accessedResource: ZFA:0005117][accessDate: 05-04-2011] Rohon-Beard neuron RB neuron RB neuron[accessedResource: ZFA:0009150][accessDate: 05-04-2011] Rohon-Beard neurons Rohon-Beard neurons[accessedResource: ZFA:0009150][accessDate: 05-04-2011] Tomasz Adamusiak ZFA:0009150 obsolete_liver (Bos taurus) true Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver 2.38 obsolete_liver (Gallus gallus) 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver obsolete_liver (Homo sapiens) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver obsolete_liver (Macaca fascicularis) 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002107 label; liver true obsolete_liver (Macaca mulatta) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver obsolete_liver (Mus musculus) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver obsolete_liver (Pan troglodytes) true Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver 2.38 obsolete_liver (Pongo pygmaeus) Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver 2.38 true obsolete_liver (Rattus norvegicus) true Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver 2.38 obsolete_liver (Rattus rattus) 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002107 label: liver obsolete_kidney (Bos taurus) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney obsolete_kidney (Homo sapiens) 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney obsolete_kidney (Mus musculus) true \Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney 2.38 obsolete_kidney (Pan troglodytes) true Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney 2.38 obsolete_kidney (Pongon pygmaeus) Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney 2.38 true obsolete_kidney (Rattus norvegicus) 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney obsolete_kidney (Rattus rattus) 2.38 use http://purl.obolibrary.org/obo/UBERON_0002113 label: kidney true obsolete_lung (Bos taurus) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung obsolete_lung (Gallus gallus) true Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung 2.38 obsolete_lung (Homo sapiens) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung obsolete_lung (Macaca fascicularis) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung obsolete_lung (Mus musculus) Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung true 2.38 obsolete_lung (Rattus norvegicus) true 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung obsolete_lung (Rattus rattus) Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung 2.38 true obsolete_lung (Sus scrofa) 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002048 label: lung true RNA-seq of non coding RNA An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed non-coding transcibed regions of the genome, to analyse these and/or to quantitate transcript abundance Helen Parkinson RNA-seq of coding RNA An assay in which sequencing technology (e.g. Solexa/454) is used to generate RNA sequence, from the presumed coding transcibed regions of the genome, or analyse these or to quantitate transcript abundance Functional Genomics Production team Helen Parkinson James Malone exome sequencing sequencer sequencing assay James Malone Sequencing assay pooled clone sequencing An assay in which DNA is the input molecule derived from pooled clones (for example BACs and Fosmids) is sequenced using high throughput technology using shotgun methodology. Helen Parkinson James Malone clone array pooled shotgun sequencing Pooled clone sequencing POOLCLONE (Shotgun of pooled clones (usually BACs and Fosmids)) clone by clone sequencing An assay in which DNA is the input molecule derived from clones which are mapped then sequenced in small fragments. Helen Parkinson James Malone genomic clone based sequencing heirarchical clone based sequencing Clone by clone sequencing clone end sequencing 3' end sequencing 5' end sequencing An assay in which DNA is the input molecule derived from a clone and 5',3' or both ends of a clone are sequenced Helen Parkinson James Malone directed end sequencing Clone end sequencing whole genome shotgun sequencing An assay in which DNA is the input molecule derived from fragmented whole genome preparation is sequenced Helen Parkinson James Malone WGSS WGS (Random sequencing of the whole genome) WGS sequencing random chromosome sequencing An assay in which DNA is the input molecule derived from chromosome or other replicon is sequenced. The random part refers to the fact the sequence can not be reliably ordered within the known chromosome. Helen Parkinson James Malone WCS Random chromosome sequencing random exon sequencing An assay in which DNA is the input molecule derived from exons is sequenced. Helen Parkinson James Malone WXS Random exon sequencing WXS (Random sequencing of exonic regions selected from the genome) amplicon sequencing An assay in which a DNA or RNA input molecule amplified by PCR is sequenced. Helen Parkinson James Malone Amplicon sequencing AMPLICON (Sequencing of overlapping or distinct PCR or RT-PCR products) MRE-seq An assay in which DNA us the input molecule derived from cleavage of DNA by use of methylation sensitive restriction enzymes to fragment DNA at methylation sites before sequencing Helen Parkinson James Malone Methylation-Sensitive Restriction Enzyme sequencing MRE-Seq (Methylation-Sensitive Restriction Enzyme Sequencing strategy) MeDIP-seq An assay in which DNA is the input molecule derived from an antibody based selection process using antibodies targeting methylated DNA, which is then sequenced using high throughput sequencing technology. Helen Parkinson James Malone Methylated DNA Immunoprecipitation sequencing MeDIP-Seq (Methylated DNA Immunoprecipitation Sequencing strategy) MBD-seq An assay in which DNA is the input molecule derived from a selection process using methyl binding domain protein to enrich for methylated fractions of DNA, then sequenced using high throughput sequencing. Helen Parkinson James Malone methyl binding domain sequencing MBD-Seq (Direct sequencing of methylated fractions sequencing strategy) MNase-seq An assay in which DNA is the input molecule derived from a micrococcal nuclease digestion followed by high throughput sequencing, A method that distinguishes nucleosome positioning based on the ability of nucleosomes to protect associated DNA from digestion by micrococcal nuclease. Sequenced fragments reveal nucleosome location information about the input DNA. Helen Parkinson James Malone MNase-Seq (Direct sequencing following MNase digestion) DNase-Hypersensitivity seq An assay in which DNA is the input molecule derived from a DNase-hypersensitivity digest of chromatin with the aim of identifying regulatory elements. Helen Parkinson James Malone DNase-Hypersensitivity (Sequencing of hypersensitive sites, or segments of open chromatin that are more readily cleaved by DNaseI) Bisulfite-seq An assay in which DNA is the input molecule derived from a bisulphite treatment of DNA to convert cytosine residues to uracil to determine methylation status. Helen Parkinson James Malone Bisulfite-Seq (Sequencing following treatment of DNA with bisulfite to convert cytosine residues to uracil depending on methylation status) EST sequencing An assay in which RNA derived from an EST is sequenced Helen Parkinson James Malone EST (Single pass sequencing of cDNA templates) FL-cDNA An assay in which RNA derived from a full length cDNA template is sequenced Helen Parkinson James Malone full length cDNA sequencing FL-cDNA (Full-length sequencing of cDNA templates) autism spectrum disorder A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior. A pervasive developmental disease that is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior.[accessedResource: DOID:0060041][accessDate: 05-04-2011] Autism Spectrum Disorders Autism Spectrum Disorders[accessedResource: MSH:D002659][accessDate: 05-04-2011] CHILD DEVELOPMENT DIS PERVASIVE CHILD DEVELOPMENT DIS PERVASIVE[accessedResource: MSH:D002659][accessDate: 05-04-2011] Child Development Disorders, Pervasive Child Development Disorders, Pervasive[accessedResource: MSH:D002659][accessDate: 05-04-2011] DOID:0060041 Development Disorder, Pervasive Development Disorder, Pervasive[accessedResource: MSH:D002659][accessDate: 05-04-2011] Development Disorders, Pervasive Development Disorders, Pervasive[accessedResource: MSH:D002659][accessDate: 05-04-2011] Disorder, Autism Spectrum Disorder, Autism Spectrum[accessedResource: MSH:D002659][accessDate: 05-04-2011] Disorder, Pervasive Development Disorder, Pervasive Development[accessedResource: MSH:D002659][accessDate: 05-04-2011] Disorders, Autism Spectrum Disorders, Autism Spectrum[accessedResource: MSH:D002659][accessDate: 05-04-2011] Disorders, Pervasive Development Disorders, Pervasive Development[accessedResource: MSH:D002659][accessDate: 05-04-2011] MSH:D002659 OMIM:209850 PERVASIVE CHILD DEVELOPMENT DIS PERVASIVE CHILD DEVELOPMENT DIS[accessedResource: MSH:D002659][accessDate: 05-04-2011] Pervasive Child Development Disorders Pervasive Child Development Disorders[accessedResource: MSH:D002659][accessDate: 05-04-2011] Pervasive Development Disorder Pervasive Development Disorder[accessedResource: MSH:D002659][accessDate: 05-04-2011] Pervasive Development Disorders Pervasive Development Disorders[accessedResource: MSH:D002659][accessDate: 05-04-2011] Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements. Severe distortions in the development of many basic psychological functions that are not normal for any stage in development. These distortions are manifested in sustained social impairment, speech abnormalities, and peculiar motor movements.[accessedResource: MSH:D002659][accessDate: 05-04-2011] Spectrum Disorder, Autism Spectrum Disorder, Autism[accessedResource: MSH:D002659][accessDate: 05-04-2011] Spectrum Disorders, Autism Spectrum Disorders, Autism[accessedResource: MSH:D002659][accessDate: 05-04-2011] Tomasz Adamusiak Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994) Wide continuum of associated cognitive and neurobehavioral disorders, including, but not limited to, three core-defining features: impairments in socialization, impairments in verbal and nonverbal communication, and restricted and repetitive patterns of behaviors. (DSM, 1994)[accessedResource: MSH:D002659][accessDate: 05-04-2011] autism spectrum disease autism spectrum disease[accessedResource: DOID:0060041][accessDate: 05-04-2011] Asperger syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.[accessedResource: DOID:0050432][accessDate: 05-04-2011] Asperger disorder Asperger's disorder Asperger's syndrome DOID:0050432 MSH:D020817 Tomasz Adamusiak X-linked Asperger syndrome X-linked Asperger syndrome[accessedResource: DOID:0050432][accessDate: 05-04-2011] true autism A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV) A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)[accessedResource: MSH:D001321][accessDate: 05-04-2011] An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old. An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.[accessedResource: DOID:12849][accessDate: 05-04-2011] Autism, Early Infantile Autism, Early Infantile[accessedResource: MSH:D001321][accessDate: 05-04-2011] Autism, Infantile Autism, Infantile[accessedResource: MSH:D001321][accessDate: 05-04-2011] Autisms Autisms[accessedResource: MSH:D001321][accessDate: 05-04-2011] Autistic Disorder Autistic disorder of childhood onset (disorder) Autistic disorder of childhood onset (disorder)[accessedResource: DOID:12849][accessDate: 05-04-2011] Autistic disorder[accessedResource: DOID:12849][accessDate: 05-04-2011] DOID:12849 Disorder, Autistic Disorder, Autistic[accessedResource: MSH:D001321][accessDate: 05-04-2011] Disorders, Autistic Disorders, Autistic[accessedResource: MSH:D001321][accessDate: 05-04-2011] Early Infantile Autism Early Infantile Autism[accessedResource: MSH:D001321][accessDate: 05-04-2011] Infantile Autism Infantile Autism, Early Infantile Autism, Early[accessedResource: MSH:D001321][accessDate: 05-04-2011] Infantile Autism[accessedResource: MSH:D001321][accessDate: 05-04-2011] Infantile autism (disorder) Infantile autism (disorder)[accessedResource: DOID:12849][accessDate: 05-04-2011] Infantile psychosis (disorder) Infantile psychosis (disorder)[accessedResource: DOID:12849][accessDate: 05-04-2011] Kanner Syndrome Kanner Syndrome[accessedResource: MSH:D001321][accessDate: 05-04-2011] Kanner's Syndrome Kanner's syndrome[accessedResource: DOID:12849][accessDate: 05-04-2011] Kanners Syndrome Kanners Syndrome[accessedResource: MSH:D001321][accessDate: 05-04-2011] MSH:D001321 OMIM:209850 Syndrome, Kanner's Syndrome, Kanner's[accessedResource: MSH:D001321][accessDate: 05-04-2011] Tomasz Adamusiak childhood autism childhood autism[accessedResource: DOID:12849][accessDate: 05-04-2011] true pervasive developmental disorder - not otherwise specified An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism. An autism spectrum disorder that involves some autistic symptoms occuring after age 3 with an abscence of all the traits necessary for a diagnosis of autism.[accessedResource: DOID:0060042][accessDate: 05-04-2011] DOID:0060042 PDD-NOS Tomasz Adamusiak atypical autism atypical autism[accessedResource: DOID:0060042][accessDate: 05-04-2011] central nervous system cyst CNS CYSTS CNS CYSTS[accessedResource: MSH:D020863][accessDate: 05-04-2011] CNS Cyst CNS Cyst[accessedResource: NCIt:C4657][accessDate: 05-04-2011] CYSTS CNS CYSTS CNS[accessedResource: MSH:D020863][accessDate: 05-04-2011] Central Nervous System Cysts Central Nervous System Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011] Cleft Cysts, Rathke's Cleft Cysts, Rathke's[accessedResource: MSH:D020863][accessDate: 05-04-2011] Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement. Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement.[accessedResource: MSH:D020863][accessDate: 05-04-2011] Cyst of CNS Cyst of CNS[accessedResource: NCIt:C4657][accessDate: 05-04-2011] Cyst of Central Nervous System Cyst of Central Nervous System[accessedResource: NCIt:C4657][accessDate: 05-04-2011] Cyst of the CNS Cyst of the CNS[accessedResource: NCIt:C4657][accessDate: 05-04-2011] Cyst of the Central Nervous System Cyst of the Central Nervous System[accessedResource: NCIt:C4657][accessDate: 05-04-2011] Cyst, Suprasellar Cyst, Suprasellar[accessedResource: MSH:D020863][accessDate: 05-04-2011] Cysts, Central Nervous System Cysts, Central Nervous System[accessedResource: MSH:D020863][accessDate: 05-04-2011] Cysts, Rathke Cleft Cysts, Rathke Cleft[accessedResource: MSH:D020863][accessDate: 05-04-2011] Cysts, Suprasellar Cysts, Suprasellar[accessedResource: MSH:D020863][accessDate: 05-04-2011] MSH:D020863 NCIt:C4657 Rathke Cleft Cysts Rathke Cleft Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011] Rathke's Cleft Cysts Rathke's Cleft Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011] Rathkes Cleft Cysts Rathkes Cleft Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011] Suprasellar Cyst Suprasellar Cyst[accessedResource: MSH:D020863][accessDate: 05-04-2011] Suprasellar Cysts Suprasellar Cysts[accessedResource: MSH:D020863][accessDate: 05-04-2011] Tomasz Adamusak Tomasz Adamusiak unipolar depression An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent. An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.[accessedResource: MSH:D003866][accessDate: 05-04-2011] DEPRESSIVE DIS DEPRESSIVE DIS MAJOR DEPRESSIVE DIS MAJOR[accessedResource: MSH:D003865][accessDate: 05-04-2011] DEPRESSIVE DIS[accessedResource: MSH:D003866][accessDate: 05-04-2011] DOID:6340 Depression Depression, Emotional Depression, Emotional[accessedResource: MSH:D003863][accessDate: 05-04-2011] Depression, Endogenous Depression, Endogenous[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depression, Involutional Depression, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011] Depression, Neurotic Depression, Neurotic[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depression, Unipolar Depression, Unipolar[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depression[accessedResource: MSH:D003863][accessDate: 05-04-2011] Depressions Depressions, Emotional Depressions, Emotional[accessedResource: MSH:D003863][accessDate: 05-04-2011] Depressions, Endogenous Depressions, Endogenous[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressions, Neurotic Depressions, Neurotic[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressions, Unipolar Depressions, Unipolar[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressions[accessedResource: MSH:D003863][accessDate: 05-04-2011] Depressive Disorder Depressive Disorder, Major Depressive Disorder, Major[accessedResource: MSH:D003865][accessDate: 05-04-2011] Depressive Disorder[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressive Disorders Depressive Disorders, Major Depressive Disorders, Major[accessedResource: MSH:D003865][accessDate: 05-04-2011] Depressive Disorders[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressive Neuroses Depressive Neuroses[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressive Neurosis Depressive Neurosis[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressive Symptom Depressive Symptom[accessedResource: MSH:D003863][accessDate: 05-04-2011] Depressive Symptoms Depressive Symptoms[accessedResource: MSH:D003863][accessDate: 05-04-2011] Depressive Syndrome Depressive Syndrome[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressive Syndromes Depressive Syndromes[accessedResource: MSH:D003866][accessDate: 05-04-2011] Depressive states usually of moderate intensity in contrast with major depression present in neurotic and psychotic disorders. Depressive states usually of moderate intensity in contrast with major depression present in neurotic and psychotic disorders.[accessedResource: MSH:D003863][accessDate: 05-04-2011] Disorder, Depressive Disorder, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011] Disorder, Major Depressive Disorder, Major Depressive[accessedResource: MSH:D003865][accessDate: 05-04-2011] Disorders, Depressive Disorders, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011] Disorders, Major Depressive Disorders, Major Depressive[accessedResource: MSH:D003865][accessDate: 05-04-2011] Emotional Depression Emotional Depression[accessedResource: MSH:D003863][accessDate: 05-04-2011] Emotional Depressions Emotional Depressions[accessedResource: MSH:D003863][accessDate: 05-04-2011] Endogenous Depression Endogenous Depression[accessedResource: MSH:D003866][accessDate: 05-04-2011] Endogenous Depressions Endogenous Depressions[accessedResource: MSH:D003866][accessDate: 05-04-2011] Form of depression in those MIDDLE AGE with feelings of ANXIETY. Form of depression in those MIDDLE AGE with feelings of ANXIETY.[accessedResource: MSH:D003865][accessDate: 05-04-2011] Involutional Depression Involutional Depression[accessedResource: MSH:D003865][accessDate: 05-04-2011] Involutional Melancholia Involutional Melancholia[accessedResource: MSH:D003865][accessDate: 05-04-2011] Involutional Psychoses Involutional Psychoses[accessedResource: MSH:D003865][accessDate: 05-04-2011] Involutional Psychosis Involutional Psychosis[accessedResource: MSH:D003865][accessDate: 05-04-2011] MAJOR DEPRESSIVE DIS MAJOR DEPRESSIVE DIS[accessedResource: MSH:D003865][accessDate: 05-04-2011] MSH:D003863 MSH:D003865 MSH:D003866 Major Depressive Disorders Major Depressive Disorders[accessedResource: MSH:D003865][accessDate: 05-04-2011] Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation. Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.[accessedResource: MSH:D003865][accessDate: 05-04-2011] Melancholia Melancholia, Involutional Melancholia, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011] Melancholia[accessedResource: MSH:D003866][accessDate: 05-04-2011] Melancholias Melancholias[accessedResource: MSH:D003866][accessDate: 05-04-2011] Neuroses, Depressive Neuroses, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011] Neurosis, Depressive Neurosis, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011] Neurotic Depression Neurotic Depression[accessedResource: MSH:D003866][accessDate: 05-04-2011] Neurotic Depressions Neurotic Depressions[accessedResource: MSH:D003866][accessDate: 05-04-2011] OMIM:608516 Paraphrenia, Involutional Paraphrenia, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011] Psychoses, Involutional Psychoses, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011] Psychosis, Involutional Psychosis, Involutional[accessedResource: MSH:D003865][accessDate: 05-04-2011] Severe mental disorder with onset in MIDDLE AGE, marked by withdrawl, abnormal affect, disturbed intellectual processes, and there may be regression. Severe mental disorder with onset in MIDDLE AGE, marked by withdrawl, abnormal affect, disturbed intellectual processes, and there may be regression.[accessedResource: MSH:D003865][accessDate: 05-04-2011] Symptom, Depressive Symptom, Depressive[accessedResource: MSH:D003863][accessDate: 05-04-2011] Symptoms, Depressive Symptoms, Depressive[accessedResource: MSH:D003863][accessDate: 05-04-2011] Syndrome, Depressive Syndrome, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011] Syndromes, Depressive Syndromes, Depressive[accessedResource: MSH:D003866][accessDate: 05-04-2011] Tomasz Adamusiak Unipolar Depressions Unipolar Depressions[accessedResource: MSH:D003866][accessDate: 05-04-2011] major depressive disorder major depressive disorder[accessedResource: DOID:6340][accessDate: 05-04-2011] true vitamin D deficiency A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406) A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)[accessedResource: MSH:D014808][accessDate: 05-04-2011] Avitaminosis D Avitaminosis D, NOS Avitaminosis D, NOS[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011] Avitaminosis D[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011] DEFIC VITAMIN D DEFIC VITAMIN D[accessedResource: MSH:D014808][accessDate: 05-04-2011] Deficiencies, Vitamin D Deficiencies, Vitamin D[accessedResource: MSH:D014808][accessDate: 05-04-2011] Deficiency, Vitamin D Deficiency, Vitamin D[accessedResource: MSH:D014808][accessDate: 05-04-2011] MSH:D014808 SNOMEDCT:34713006 Tomasz Adamusiak VITAMIN D DEFIC VITAMIN D DEFIC[accessedResource: MSH:D014808][accessDate: 05-04-2011] Vitamin D Deficiencies Vitamin D Deficiencies[accessedResource: MSH:D014808][accessDate: 05-04-2011] Vitamin D deficiency (disorder) Vitamin D deficiency (disorder)[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011] Vitamin D deficiency, NOS Vitamin D deficiency, NOS[accessedResource: SNOMEDCT:34713006][accessDate: 05-04-2011] Vitamin D insufficiency true cerebrovascular disorder A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction. A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.[accessedResource: NCIt:C2938][accessDate: 05-04-2011] A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others. A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES; or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.[accessedResource: MSH:D002561][accessDate: 05-04-2011] BRAIN VASCULAR DIS BRAIN VASCULAR DIS[accessedResource: MSH:D002561][accessDate: 05-04-2011] Brain Vascular Disorder Brain Vascular Disorder[accessedResource: MSH:D002561][accessDate: 05-04-2011] Brain Vascular Disorders Brain Vascular Disorders[accessedResource: MSH:D002561][accessDate: 05-04-2011] CEREBROVASCULAR DIS CEREBROVASCULAR DIS[accessedResource: MSH:D002561][accessDate: 05-04-2011] Cerebrovascular Disease Cerebrovascular Disease[accessedResource: NCIt:C2938][accessDate: 05-04-2011] Cerebrovascular Disorders Cerebrovascular Disorders[accessedResource: MSH:D002561][accessDate: 05-04-2011] Cerebrovascular Insufficiencies Cerebrovascular Insufficiencies[accessedResource: MSH:D002561][accessDate: 05-04-2011] Cerebrovascular Insufficiency Cerebrovascular Insufficiency[accessedResource: MSH:D002561][accessDate: 05-04-2011] Cerebrovascular Occlusion Cerebrovascular Occlusion[accessedResource: MSH:D002561][accessDate: 05-04-2011] Cerebrovascular Occlusions Cerebrovascular Occlusions[accessedResource: MSH:D002561][accessDate: 05-04-2011] INTRACRANIAL VASCULAR DIS INTRACRANIAL VASCULAR DIS[accessedResource: MSH:D002561][accessDate: 05-04-2011] Insufficiencies, Cerebrovascular Insufficiencies, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011] Insufficiency, Cerebrovascular Insufficiency, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011] Intracranial Vascular Disease Intracranial Vascular Disease[accessedResource: MSH:D002561][accessDate: 05-04-2011] Intracranial Vascular Diseases Intracranial Vascular Diseases[accessedResource: MSH:D002561][accessDate: 05-04-2011] Intracranial Vascular Disorder Intracranial Vascular Disorder[accessedResource: MSH:D002561][accessDate: 05-04-2011] Intracranial Vascular Disorders Intracranial Vascular Disorders[accessedResource: MSH:D002561][accessDate: 05-04-2011] MSH:D002561 NCIt:C2938 Occlusion, Cerebrovascular Occlusion, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011] Occlusions, Cerebrovascular Occlusions, Cerebrovascular[accessedResource: MSH:D002561][accessDate: 05-04-2011] Tomasz Adamusiak VASCULAR DIS INTRACRANIAL VASCULAR DIS INTRACRANIAL[accessedResource: MSH:D002561][accessDate: 05-04-2011] Vascular Disease, Intracranial Vascular Disease, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011] Vascular Diseases, Intracranial Vascular Diseases, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011] Vascular Disorder, Brain Vascular Disorder, Brain[accessedResource: MSH:D002561][accessDate: 05-04-2011] Vascular Disorder, Intracranial Vascular Disorder, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011] Vascular Disorders, Brain Vascular Disorders, Brain[accessedResource: MSH:D002561][accessDate: 05-04-2011] Vascular Disorders, Intracranial Vascular Disorders, Intracranial[accessedResource: MSH:D002561][accessDate: 05-04-2011] transient ischemic attack Anterior Circulation Transient Ischemic Attack Anterior Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011] Attack, Transient Ischemic Attack, Transient Ischemic[accessedResource: MSH:D002546][accessDate: 05-04-2011] Attacks, Transient Ischemic Attacks, Transient Ischemic[accessedResource: MSH:D002546][accessDate: 05-04-2011] Brain Stem Ischemia, Transient Brain Stem Ischemia, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011] Brain Stem Transient Ischemic Attack Brain Stem Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011] Brain TIA Brain TIA[accessedResource: MSH:D002546][accessDate: 05-04-2011] Brainstem Ischemia, Transient Brainstem Ischemia, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011] Brainstem Ischemias, Transient Brainstem Ischemias, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011] Brainstem Transient Ischemic Attack Brainstem Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011] Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6) Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)[accessedResource: MSH:D002546][accessDate: 05-04-2011] Carotid Circulation Transient Ischemic Attack Carotid Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011] Cerebral Ischemia, Transient Cerebral Ischemia, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011] Cerebral Ischemias, Transient Cerebral Ischemias, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011] Crescendo Transient Ischemic Attacks Crescendo Transient Ischemic Attacks[accessedResource: MSH:D002546][accessDate: 05-04-2011] DOID:224 Ischemia, Transient Brainstem Ischemia, Transient Brainstem[accessedResource: MSH:D002546][accessDate: 05-04-2011] Ischemia, Transient Cerebral Ischemia, Transient Cerebral[accessedResource: MSH:D002546][accessDate: 05-04-2011] Ischemias, Transient Brainstem Ischemias, Transient Brainstem[accessedResource: MSH:D002546][accessDate: 05-04-2011] Ischemias, Transient Cerebral Ischemias, Transient Cerebral[accessedResource: MSH:D002546][accessDate: 05-04-2011] Ischemic Attack, Transient Ischemic Attack, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011] Ischemic Attacks, Transient Ischemic Attacks, Transient[accessedResource: MSH:D002546][accessDate: 05-04-2011] MSH:D002546 Posterior Circulation Transient Ischemic Attack Posterior Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011] TIA TIA (Transient Ischemic Attack) TIA (Transient Ischemic Attack)[accessedResource: MSH:D002546][accessDate: 05-04-2011] TIA - Transient ischaemic attack TIA - Transient ischaemic attack[accessedResource: DOID:224][accessDate: 05-04-2011] TIA, Brain TIA, Brain[accessedResource: MSH:D002546][accessDate: 05-04-2011] TIA[accessedResource: DOID:224][accessDate: 05-04-2011] TIAs (Transient Ischemic Attack) TIAs (Transient Ischemic Attack)[accessedResource: MSH:D002546][accessDate: 05-04-2011] Tomasz Adamusiak Transient Brainstem Ischemia Transient Brainstem Ischemia[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Cerebral Ischemia Transient Cerebral Ischemia[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Cerebral Ischemias Transient Cerebral Ischemias[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attack, Anterior Circulation Transient Ischemic Attack, Anterior Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attack, Brain Stem Transient Ischemic Attack, Brain Stem[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attack, Brainstem Transient Ischemic Attack, Brainstem[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attack, Carotid Circulation Transient Ischemic Attack, Carotid Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attack, Posterior Circulation Transient Ischemic Attack, Posterior Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attack, Vertebrobasilar Circulation Transient Ischemic Attack, Vertebrobasilar Circulation[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attacks Transient Ischemic Attacks, Crescendo Transient Ischemic Attacks, Crescendo[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient Ischemic Attacks[accessedResource: MSH:D002546][accessDate: 05-04-2011] Transient cerebral ischaemia Transient cerebral ischaemia NOS Transient cerebral ischaemia NOS[accessedResource: DOID:224][accessDate: 05-04-2011] Transient cerebral ischaemia[accessedResource: DOID:224][accessDate: 05-04-2011] Transient cerebral ischemia (disorder) [Ambiguous] Transient cerebral ischemia (disorder) [Ambiguous][accessedResource: DOID:224][accessDate: 05-04-2011] Transient ischemic attacks (disorder) Transient ischemic attacks (disorder)[accessedResource: DOID:224][accessDate: 05-04-2011] Vertebrobasilar Circulation Transient Ischemic Attack Vertebrobasilar Circulation Transient Ischemic Attack[accessedResource: MSH:D002546][accessDate: 05-04-2011] sign or symptom Clinical Finding Clinical Finding[accessedResource: NCIt:C3367][accessDate: 05-04-2011] Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient.[accessedResource: MSH:D012816][accessDate: 05-04-2011] DESC DESC[accessedResource: NCIt:C3367][accessDate: 05-04-2011] Diagnostic Findings Diagnostic Findings[accessedResource: NCIt:C3367][accessDate: 05-04-2011] Finding Finding[accessedResource: NCIt:C3367][accessDate: 05-04-2011] MSH:D012816 NCIt:C3367 OGMS_0000020 OGMS_0000024 Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom). Objective evidence of disease perceptible to the examining physician (sign) and subjective evidence of disease perceived by the patient (symptom).[accessedResource: NCIt:C3367][accessDate: 05-04-2011] SIGNS SYMPTOMS SIGNS SYMPTOMS[accessedResource: MSH:D012816][accessDate: 05-04-2011] Signs and Symptoms Signs and Symptoms[accessedResource: NCIt:C3367][accessDate: 05-04-2011] Symptoms and Signs Symptoms and Signs[accessedResource: MSH:D012816][accessDate: 05-04-2011] Tomasz Adamusiak abdominal pain Abdominal Pains Abdominal Pains[accessedResource: MSH:D015746][accessDate: 05-04-2011] MSH:D015746 NCIt:C26682 Pain, Abdominal Pain, Abdominal[accessedResource: MSH:D015746][accessDate: 05-04-2011] Painful sensation in the abdominal region. Painful sensation in the abdominal region.[accessedResource: NCIt:C26682][accessDate: 05-04-2011] Pains, Abdominal Pains, Abdominal[accessedResource: MSH:D015746][accessDate: 05-04-2011] Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases. Sensation of discomfort, distress, or agony in the abdominal region; generally associated with functional disorders, tissue injuries, or diseases.[accessedResource: MSH:D015746][accessDate: 05-04-2011] Tomasz Adamusiak inflammatory bowel disease A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003 A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011] BOWEL DIS INFLAMM[accessedResource: MSH:D015212][accessDate: 05-04-2011] Bowel Diseases, Inflammatory Bowel Diseases, Inflammatory[accessedResource: MSH:D015212][accessDate: 05-04-2011] Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS. Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.[accessedResource: MSH:D015212][accessDate: 05-04-2011] IBD IBD[accessedResource: NCIt:C3138][accessDate: 05-04-2011] INFLAMM BOWEL DIS INFLAMM BOWEL DIS[accessedResource: MSH:D015212][accessDate: 05-04-2011] Inflammatory Bowel Diseases Inflammatory Bowel Diseases[accessedResource: MSH:D015212][accessDate: 05-04-2011] MSH:D015212 NCIt:C3138 OMIM:608448 Tomasz Adamusiak true nicotine dependence Cigarette Smoking Cigarette Smoking[accessedResource: MSH:D012907][accessDate: 05-04-2011] Dependence, Nicotine Dependence, Nicotine[accessedResource: MSH:D014029][accessDate: 05-04-2011] Dependence, Tobacco Dependence, Tobacco[accessedResource: MSH:D014029][accessDate: 05-04-2011] Disorder, Nicotine Use Disorder, Nicotine Use[accessedResource: MSH:D014029][accessDate: 05-04-2011] Disorder, Tobacco Use Disorder, Tobacco Use[accessedResource: MSH:D014029][accessDate: 05-04-2011] Disorder, Tobacco-Use Disorder, Tobacco-Use[accessedResource: MSH:D014029][accessDate: 05-04-2011] Inhaling and exhaling the smoke of tobacco or something similar to tobacco. Inhaling and exhaling the smoke of tobacco or something similar to tobacco.[accessedResource: MSH:D012907][accessDate: 05-04-2011] MSH:D012907 MSH:D014029 NCIt:C54203 NICOTINE USE DIS NICOTINE USE DIS[accessedResource: MSH:D014029][accessDate: 05-04-2011] Nicotine Addiction Nicotine Addiction[accessedResource: NCIt:C54203][accessDate: 05-04-2011] Nicotine Use Disorder Nicotine Use Disorder[accessedResource: MSH:D014029][accessDate: 05-04-2011] Nicotine Use Disorders Nicotine Use Disorders[accessedResource: MSH:D014029][accessDate: 05-04-2011] Smoking, Cigarette Smoking, Cigarette[accessedResource: MSH:D012907][accessDate: 05-04-2011] Smoking, Tobacco Smoking, Tobacco[accessedResource: MSH:D012907][accessDate: 05-04-2011] Smoking[accessedResource: MSH:D012907][accessDate: 05-04-2011] Smokings, Tobacco Smokings, Tobacco[accessedResource: MSH:D012907][accessDate: 05-04-2011] TOBACCO USE DIS TOBACCO USE DIS[accessedResource: MSH:D014029][accessDate: 05-04-2011] Tobacco Dependence Tobacco Dependence[accessedResource: MSH:D014029][accessDate: 05-04-2011] Tobacco Dependences Tobacco Dependences[accessedResource: MSH:D014029][accessDate: 05-04-2011] Tobacco Smoking Tobacco Smoking[accessedResource: MSH:D012907][accessDate: 05-04-2011] Tobacco Smokings Tobacco Smokings[accessedResource: MSH:D012907][accessDate: 05-04-2011] Tobacco Use Disorder Tobacco Use Disorder[accessedResource: MSH:D014029][accessDate: 05-04-2011] Tobacco Use Disorders Tobacco Use Disorders[accessedResource: MSH:D014029][accessDate: 05-04-2011] Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included. Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included.[accessedResource: MSH:D014029][accessDate: 05-04-2011] Tobacco-Use Disorder Tobacco-Use Disorder[accessedResource: MSH:D014029][accessDate: 05-04-2011] Tomasz Adamusiak Use Disorder, Nicotine Use Disorder, Nicotine[accessedResource: MSH:D014029][accessDate: 05-04-2011] smoking true endocrine neoplasm Cancer of Endocrine Gland Cancer of Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011] Cancer of the Endocrine Gland Cancer of the Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011] Cancer, Endocrine Cancer, Endocrine Gland Cancer, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011] Cancer, Endocrine[accessedResource: MSH:D004701][accessDate: 05-04-2011] Cancers, Endocrine Cancers, Endocrine[accessedResource: MSH:D004701][accessDate: 05-04-2011] Carcinoma of Endocrine Gland Carcinoma of Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011] Carcinoma, Endocrine Gland Carcinoma, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011] ENDOCRINE GLAND NEOPL ENDOCRINE GLAND NEOPL[accessedResource: MSH:D004701][accessDate: 05-04-2011] Endocrine Cancer Endocrine Cancer[accessedResource: MSH:D004701][accessDate: 05-04-2011] Endocrine Cancers Endocrine Cancers[accessedResource: MSH:D004701][accessDate: 05-04-2011] Endocrine Gland Cancer Endocrine Gland Cancer[accessedResource: MSH:D004701][accessDate: 05-04-2011] Endocrine Gland Carcinoma Endocrine Gland Carcinoma[accessedResource: MSH:D004701][accessDate: 05-04-2011] Endocrine Gland Neoplasm Endocrine Gland Neoplasm[accessedResource: MSH:D004701][accessDate: 05-04-2011] Endocrine Gland Neoplasms Endocrine Gland Neoplasms[accessedResource: MSH:D004701][accessDate: 05-04-2011] MSH:D004701 NEOPL ENDOCRINE GLAND NEOPL ENDOCRINE GLAND[accessedResource: MSH:D004701][accessDate: 05-04-2011] Neoplasm, Endocrine Gland Neoplasm, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011] Neoplasms, Endocrine Gland Neoplasms, Endocrine Gland[accessedResource: MSH:D004701][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the ENDOCRINE GLANDS. Tumors or cancer of the ENDOCRINE GLANDS.[accessedResource: MSH:D004701][accessDate: 05-04-2011] diabetic retinopathy Diabetic Retinopathies Diabetic Retinopathies[accessedResource: MSH:D003930][accessDate: 05-04-2011] Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION. Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION.[accessedResource: MSH:D003930][accessDate: 05-04-2011] MSH:D003930 NCIt:C34538 Retinopathies, Diabetic Retinopathies, Diabetic[accessedResource: MSH:D003930][accessDate: 05-04-2011] Retinopathy, Diabetic Retinopathy, Diabetic[accessedResource: MSH:D003930][accessDate: 05-04-2011] Tomasz Adamusiak true obsolete_abdominal fat 2.38 Abdominal Adipose Tissue Abdominal Adipose Tissue[accessedResource: MSH:D050153][accessDate: 05-04-2011] Abdominal Fats Abdominal Fats[accessedResource: MSH:D050153][accessDate: 05-04-2011] Abdominal Visceral Fat Abdominal Visceral Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011] Abdominal Visceral Fats Abdominal Visceral Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011] Adipose Tissue, Abdominal Adipose Tissue, Abdominal[accessedResource: MSH:D050153][accessDate: 05-04-2011] Adipose Tissue, Intra-Abdominal Adipose Tissue, Intra-Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011] Adipose Tissue, Retroperitoneal Adipose Tissue, Retroperitoneal[accessedResource: MSH:D050152][accessDate: 05-04-2011] Adipose Tissue, Visceral Adipose Tissue, Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fat, Abdominal Fat, Abdominal Visceral Fat, Abdominal Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fat, Abdominal[accessedResource: MSH:D050153][accessDate: 05-04-2011] Fat, Intra Abdominal Fat, Intra Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fat, Intra-Abdominal Fat, Intra-Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fat, Retroperitoneal Fat, Retroperitoneal[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fat, Visceral Fat, Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fats, Abdominal Fats, Abdominal Visceral Fats, Abdominal Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fats, Abdominal[accessedResource: MSH:D050153][accessDate: 05-04-2011] Fats, Intra-Abdominal Fats, Intra-Abdominal[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fats, Retroperitoneal Fats, Retroperitoneal[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fats, Visceral Fats, Visceral[accessedResource: MSH:D050152][accessDate: 05-04-2011] Fatty tissue in the region of the ABDOMEN. It includes the ABDOMINAL SUBCUTANEOUS FAT and the INTRA-ABDOMINAL FAT. Fatty tissue in the region of the ABDOMEN. It includes the ABDOMINAL SUBCUTANEOUS FAT and the INTRA-ABDOMINAL FAT.[accessedResource: MSH:D050153][accessDate: 05-04-2011] Fatty tissue inside the ABDOMINAL CAVITY, including visceral fat and retroperitoneal fat. It is the most metabolically active fat in the body and easily accessible for LIPOLYSIS. Increased visceral fat is associated with metabolic complications of OBESITY. Fatty tissue inside the ABDOMINAL CAVITY, including visceral fat and retroperitoneal fat. It is the most metabolically active fat in the body and easily accessible for LIPOLYSIS. Increased visceral fat is associated with metabolic complications of OBESITY.[accessedResource: MSH:D050152][accessDate: 05-04-2011] Intra Abdominal Adipose Tissue Intra Abdominal Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011] Intra Abdominal Fat Intra Abdominal Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011] Intra-Abdominal Adipose Tissue Intra-Abdominal Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011] Intra-Abdominal Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011] Intra-Abdominal Fats Intra-Abdominal Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011] MSH:D050152 MSH:D050153 Retroperitoneal Adipose Tissue Retroperitoneal Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011] Retroperitoneal Fat Retroperitoneal Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011] Retroperitoneal Fats Retroperitoneal Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011] Tomasz Adamusiak Use http://purl.obolibrary.org/obo/UBERON_0007808 Label: adipose tissue of abdominal region Visceral Adipose Tissue Visceral Adipose Tissue[accessedResource: MSH:D050152][accessDate: 05-04-2011] Visceral Fat Visceral Fat[accessedResource: MSH:D050152][accessDate: 05-04-2011] Visceral Fats Visceral Fats[accessedResource: MSH:D050152][accessDate: 05-04-2011] intra-abdominal fat true visceral fat true endocrine system component An endocrine system component is a defined classt to caputre the partonomy of the endocrine system. Tomasz Adamusiak hyperlipidemia Abnormally high level of lipids in blood. Abnormally high level of lipids in blood.[accessedResource: MSH:D006949][accessDate: 05-04-2011] Conditions with excess LIPIDS in the blood. Conditions with excess LIPIDS in the blood.[accessedResource: MSH:D006949][accessDate: 05-04-2011] Hyperlipemia Hyperlipemia[accessedResource: MSH:D006949][accessDate: 05-04-2011] Hyperlipemias Hyperlipemias[accessedResource: MSH:D006949][accessDate: 05-04-2011] Hyperlipidemias Hyperlipidemias[accessedResource: MSH:D006949][accessDate: 05-04-2011] Lipemia Lipemia[accessedResource: MSH:D006949][accessDate: 05-04-2011] Lipemias Lipemias[accessedResource: MSH:D006949][accessDate: 05-04-2011] Lipidemia Lipidemia[accessedResource: MSH:D006949][accessDate: 05-04-2011] Lipidemias Lipidemias[accessedResource: MSH:D006949][accessDate: 05-04-2011] MSH:D006949 Tomasz Adamusiak Job's syndrome Autosomal Dominant HIES Autosomal Dominant HIES[accessedResource: MSH:D007589][accessDate: 05-04-2011] Autosomal Dominant HIESs Autosomal Dominant HIESs[accessedResource: MSH:D007589][accessDate: 05-04-2011] Autosomal Recessive HIES Autosomal Recessive HIES[accessedResource: MSH:D007589][accessDate: 05-04-2011] Autosomal Recessive HIESs Autosomal Recessive HIESs[accessedResource: MSH:D007589][accessDate: 05-04-2011] DOID:3261 HIES, Autosomal Dominant HIES, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011] HIES, Autosomal Recessive HIES, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011] HIESs, Autosomal Dominant HIESs, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011] HIESs, Autosomal Recessive HIESs, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper IgE Syndrome Hyper IgE Syndrome, Autosomal Dominant Hyper IgE Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper IgE Syndrome, Autosomal Recessive Hyper IgE Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper IgE Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper Immunoglobulin E Syndrome, Autosomal Dominant Hyper Immunoglobulin E Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper Immunoglobulin E Syndrome, Autosomal Recessive Hyper Immunoglobulin E Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper-IgE Syndrome Hyper-IgE Syndrome, Autosomal Dominant Hyper-IgE Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper-IgE Syndrome, Autosomal Recessive Hyper-IgE Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper-IgE Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper-IgE Syndromes Hyper-IgE Syndromes[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper-Immunoglobulin E Syndrome, Autosomal Dominant Hyper-Immunoglobulin E Syndrome, Autosomal Dominant[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyper-Immunoglobulin E Syndrome, Autosomal Recessive Hyper-Immunoglobulin E Syndrome, Autosomal Recessive[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyperimmunoglobulin E Recurrent Infection Syndrome Hyperimmunoglobulin E Recurrent Infection Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyperimmunoglobulin E, Recurrent Infection Syndrome Hyperimmunoglobulin E, Recurrent Infection Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyperimmunoglobulin E-Recurrent Infection Syndrome Hyperimmunoglobulin E-Recurrent Infection Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyperimmunoglobulinemia E Syndrome Hyperimmunoglobulinemia E Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] Hyperimmunoglobulinemia E Syndromes Hyperimmunoglobulinemia E Syndromes[accessedResource: MSH:D007589][accessDate: 05-04-2011] Job Syndrome Job Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] Job's syndrome (disorder) Job's syndrome (disorder)[accessedResource: DOID:3261][accessDate: 05-04-2011] Jobs Syndrome Jobs Syndrome[accessedResource: MSH:D007589][accessDate: 05-04-2011] MSH:D007589 OMIM:147060 Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share. Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.[accessedResource: MSH:D007589][accessDate: 05-04-2011] Syndrome, Hyper-IgE Syndrome, Hyper-IgE[accessedResource: MSH:D007589][accessDate: 05-04-2011] Syndrome, Hyperimmunoglobulinemia E Syndrome, Hyperimmunoglobulinemia E[accessedResource: MSH:D007589][accessDate: 05-04-2011] Syndrome, Job's Syndrome, Job's[accessedResource: MSH:D007589][accessDate: 05-04-2011] Syndromes, Hyperimmunoglobulinemia E Syndromes, Hyperimmunoglobulinemia E[accessedResource: MSH:D007589][accessDate: 05-04-2011] Tomasz Adamusiak hyperimmunoglobulin E syndrome hyperimmunoglobulin E syndrome (disorder) hyperimmunoglobulin E syndrome (disorder)[accessedResource: DOID:3261][accessDate: 05-04-2011] hyperimmunoglobulin E syndrome[accessedResource: DOID:3261][accessDate: 05-04-2011] coronary artery bypass Aortocoronary Bypass Aortocoronary Bypass[accessedResource: MSH:D001026][accessDate: 05-04-2011] Aortocoronary Bypasses Aortocoronary Bypasses[accessedResource: MSH:D001026][accessDate: 05-04-2011] Artery Bypass, Coronary Artery Bypass, Coronary[accessedResource: MSH:D001026][accessDate: 05-04-2011] Artery Bypasses, Coronary Artery Bypasses, Coronary[accessedResource: MSH:D001026][accessDate: 05-04-2011] BYPASS SURG CORONARY ARTERY BYPASS SURG CORONARY ARTERY[accessedResource: MSH:D001026][accessDate: 05-04-2011] Bypass Surgery, Coronary Artery Bypass Surgery, Coronary Artery[accessedResource: MSH:D001026][accessDate: 05-04-2011] Bypass, Aortocoronary Bypass, Aortocoronary[accessedResource: MSH:D001026][accessDate: 05-04-2011] Bypass, Coronary Artery Bypass, Coronary Artery[accessedResource: MSH:D001026][accessDate: 05-04-2011] Bypasses, Aortocoronary Bypasses, Aortocoronary[accessedResource: MSH:D001026][accessDate: 05-04-2011] Bypasses, Coronary Artery Bypasses, Coronary Artery[accessedResource: MSH:D001026][accessDate: 05-04-2011] CABG CABG[accessedResource: MSH:D001026][accessDate: 05-04-2011] CORONARY ARTERY BYPASS SURG CORONARY ARTERY BYPASS SURG[accessedResource: MSH:D001026][accessDate: 05-04-2011] Coronary Artery Bypass Grafting Coronary Artery Bypass Grafting[accessedResource: MSH:D001026][accessDate: 05-04-2011] Coronary Artery Bypass Surgery Coronary Artery Bypass Surgery[accessedResource: MSH:D001026][accessDate: 05-04-2011] Coronary Artery Bypasses Coronary Artery Bypasses[accessedResource: MSH:D001026][accessDate: 05-04-2011] MSH:D001026 Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion. Surgical therapy of ischemic coronary artery disease achieved by grafting a section of saphenous vein, internal mammary artery, or other substitute between the aorta and the obstructed coronary artery distal to the obstructive lesion.[accessedResource: MSH:D001026][accessDate: 05-04-2011] Tomasz Adamusiak heart disease CARDIAC DIS CARDIAC DIS[accessedResource: MSH:D006331][accessDate: 05-04-2011] Cardiac Disease Cardiac Disease[accessedResource: MSH:D006331][accessDate: 05-04-2011] Cardiac Diseases Cardiac Diseases[accessedResource: MSH:D006331][accessDate: 05-04-2011] Disease, Cardiac Disease, Cardiac[accessedResource: MSH:D006331][accessDate: 05-04-2011] Disease, Heart Disease, Heart[accessedResource: MSH:D006331][accessDate: 05-04-2011] Diseases, Cardiac Diseases, Cardiac[accessedResource: MSH:D006331][accessDate: 05-04-2011] Diseases, Heart Diseases, Heart[accessedResource: MSH:D006331][accessDate: 05-04-2011] HEART DIS HEART DIS[accessedResource: MSH:D006331][accessDate: 05-04-2011] Heart Diseases Heart Diseases[accessedResource: MSH:D006331][accessDate: 05-04-2011] MSH:D006331 Pathological conditions involving the HEART including its structural and functional abnormalities. Pathological conditions involving the HEART including its structural and functional abnormalities.[accessedResource: MSH:D006331][accessDate: 05-04-2011] Tomasz Adamusiak psoriatic arthritis A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor. A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor.[accessedResource: MSH:D015535][accessDate: 05-04-2011] Arthritic Psoriasis Arthritic Psoriasis[accessedResource: MSH:D015535][accessDate: 05-04-2011] Arthritis, Psoriatic Arthritis, Psoriatic[accessedResource: MSH:D015535][accessDate: 05-04-2011] MSH:D015535 Psoriasis Arthropathica Psoriasis Arthropathica[accessedResource: MSH:D015535][accessDate: 05-04-2011] Psoriasis, Arthritic Psoriasis, Arthritic[accessedResource: MSH:D015535][accessDate: 05-04-2011] Tomasz Adamusiak true autoimmune thyroid disease An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism. An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.[accessedResource: NCIt:C27191][accessDate: 05-04-2011] Autoimmune Thyroiditides Autoimmune Thyroiditides[accessedResource: MSH:D013967][accessDate: 05-04-2011] Autoimmune Thyroiditis Autoimmune Thyroiditis[accessedResource: NCIt:C27191][accessDate: 05-04-2011] Hashimoto Thyroiditis Hashimoto Thyroiditis[accessedResource: NCIt:C27191][accessDate: 05-04-2011] Hashimoto disease Hashimoto disease[accessedResource: NCIt:C27191][accessDate: 05-04-2011] Hashimoto's Thyroiditis Hashimoto's Thyroiditis[accessedResource: NCIt:C27191][accessDate: 05-04-2011] Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis. Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.[accessedResource: MSH:D013967][accessDate: 05-04-2011] Lymphocytic Thyroiditides Lymphocytic Thyroiditides[accessedResource: MSH:D013967][accessDate: 05-04-2011] Lymphocytic Thyroiditis Lymphocytic Thyroiditis[accessedResource: MSH:D013967][accessDate: 05-04-2011] Lymphomatous Thyroiditides Lymphomatous Thyroiditides[accessedResource: MSH:D013967][accessDate: 05-04-2011] Lymphomatous Thyroiditis Lymphomatous Thyroiditis[accessedResource: MSH:D013967][accessDate: 05-04-2011] MSH:D013967 NCIt:C27191 OMIM:140300 Thyroiditides, Autoimmune Thyroiditides, Autoimmune[accessedResource: MSH:D013967][accessDate: 05-04-2011] Thyroiditides, Lymphocytic Thyroiditides, Lymphocytic[accessedResource: MSH:D013967][accessDate: 05-04-2011] Thyroiditides, Lymphomatous Thyroiditides, Lymphomatous[accessedResource: MSH:D013967][accessDate: 05-04-2011] Thyroiditis, Autoimmune Thyroiditis, Autoimmune[accessedResource: MSH:D013967][accessDate: 05-04-2011] Thyroiditis, Lymphocytic Thyroiditis, Lymphocytic[accessedResource: MSH:D013967][accessDate: 05-04-2011] Thyroiditis, Lymphomatous Thyroiditis, Lymphomatous[accessedResource: MSH:D013967][accessDate: 05-04-2011] Tomasz Adamusiak Behcet's syndrome A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.[accessedResource: DOID:13241][accessDate: 05-04-2011] Adamantiades-Behcet disease Adamantiades-Behcet disease[accessedResource: DOID:13241][accessDate: 05-04-2011] BEHCET DIS BEHCET DIS[accessedResource: MSH:D001528][accessDate: 05-04-2011] Behcet Disease Behcet Disease[accessedResource: MSH:D001528][accessDate: 05-04-2011] Behcet syndrome Behcet syndrome[accessedResource: DOID:13241][accessDate: 05-04-2011] Behcet's disease Behcet's disease[accessedResource: DOID:13241][accessDate: 05-04-2011] Behcets Syndrome Behcets Syndrome[accessedResource: MSH:D001528][accessDate: 05-04-2011] Behet's syndrome (disorder) Behet's syndrome (disorder)[accessedResource: DOID:13241][accessDate: 05-04-2011] DOID:13241 MSH:D001528 OMIM:109650 Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well. Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.[accessedResource: MSH:D001528][accessDate: 05-04-2011] Tomasz Adamusiak Triple Symptom Complex[accessedResource: MSH:D001528][accessDate: 05-04-2011] Triple-Symptom Complex Triple-Symptom Complex[accessedResource: MSH:D001528][accessDate: 05-04-2011] triple symptom complex true carotid artery disease ARTERIAL DIS CAROTID ARTERIAL DIS CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011] ARTERIAL DIS COMMON CAROTID ARTERIAL DIS COMMON CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011] ARTERIAL DIS EXTERNAL CAROTID ARTERIAL DIS EXTERNAL CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011] ARTERIAL DIS INTERNAL CAROTID ARTERIAL DIS INTERNAL CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011] ATHEROSCLEROTIC DIS CAROTID ATHEROSCLEROTIC DIS CAROTID[accessedResource: MSH:D002340][accessDate: 05-04-2011] Arterial Disease, Carotid Arterial Disease, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Arterial Diseases, Carotid Arterial Diseases, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Arterial Diseases, Common Carotid Arterial Diseases, Common Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Arterial Diseases, External Carotid Arterial Diseases, External Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Arterial Diseases, Internal Carotid Arterial Diseases, Internal Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Artery Disease, Carotid Artery Disease, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Artery Diseases, Carotid Artery Diseases, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Artery Disorder, Carotid Artery Disorder, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Artery Disorders, Carotid Artery Disorders, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Atherosclerotic Disease, Carotid Atherosclerotic Disease, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] Atherosclerotic Diseases, Carotid Atherosclerotic Diseases, Carotid[accessedResource: MSH:D002340][accessDate: 05-04-2011] CAROTID ARTERY DIS CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011] CAROTID ATHEROSCLEROTIC DIS CAROTID ATHEROSCLEROTIC DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011] COMMON CAROTID ARTERY DIS COMMON CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Arterial Disease Carotid Arterial Disease[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Arterial Diseases Carotid Arterial Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Artery Diseases Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Artery Disorder Carotid Artery Disorder[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Artery Disorders Carotid Artery Disorders[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Atheroscleroses Carotid Atheroscleroses[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Atherosclerosis Carotid Atherosclerosis[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Atherosclerotic Disease Carotid Atherosclerotic Disease[accessedResource: MSH:D002340][accessDate: 05-04-2011] Carotid Atherosclerotic Diseases Carotid Atherosclerotic Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011] Common Carotid Artery Diseases Common Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011] DOID:3407 Disorders, Carotid Artery Disorders, Carotid Artery[accessedResource: MSH:D002340][accessDate: 05-04-2011] EXTERNAL CAROTID ARTERY DIS EXTERNAL CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011] External Carotid Artery Diseases External Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011] INTERNAL CAROTID ARTERY DIS INTERNAL CAROTID ARTERY DIS[accessedResource: MSH:D002340][accessDate: 05-04-2011] Internal Carotid Artery Diseases Internal Carotid Artery Diseases[accessedResource: MSH:D002340][accessDate: 05-04-2011] MSH:D002340 Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology. Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology.[accessedResource: MSH:D002340][accessDate: 05-04-2011] Tomasz Adamusiak disorder of carotid artery (disorder) disorder of carotid artery (disorder)[accessedResource: DOID:3407][accessDate: 05-04-2011] true motor neuron disease ANTERIOR HORN CELL DIS ANTERIOR HORN CELL DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011] Anterior Horn Cell Disease Anterior Horn Cell Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011] DOID:231 Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089) Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)[accessedResource: MSH:D016472][accessDate: 05-04-2011] FAMILIAL MOTOR NEURON DIS FAMILIAL MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011] Familial Motor Neuron Disease Familial Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011] LOWER MOTOR NEURON DIS LOWER MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011] Lateral Scleroses Lateral Scleroses, Primary[accessedResource: MSH:D016472][accessDate: 05-04-2011] Lateral Scleroses[accessedResource: MSH:D016472][accessDate: 05-04-2011] Lateral Sclerosis Lateral Sclerosis, Primary[accessedResource: MSH:D016472][accessDate: 05-04-2011] Lateral Sclerosis[accessedResource: MSH:D016472][accessDate: 05-04-2011] Lower Motor Neuron Disease Lower Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011] MOTOR NEURON DIS MOTOR NEURON DIS FAMILIAL MOTOR NEURON DIS FAMILIAL[accessedResource: MSH:D016472][accessDate: 05-04-2011] MOTOR NEURON DIS LOWER MOTOR NEURON DIS LOWER[accessedResource: MSH:D016472][accessDate: 05-04-2011] MOTOR NEURON DIS SECOND MOTOR NEURON DIS SECOND[accessedResource: MSH:D016472][accessDate: 05-04-2011] MOTOR NEURON DIS UPPER MOTOR NEURON DIS UPPER[accessedResource: MSH:D016472][accessDate: 05-04-2011] MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011] MOTOR SYSTEM DIS MOTOR SYSTEM DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011] MSH:D016472 Motor Neuron Disease, Familial Motor Neuron Disease, Familial[accessedResource: MSH:D016472][accessDate: 05-04-2011] Motor Neuron Disease, Lower Motor Neuron Disease, Lower[accessedResource: MSH:D016472][accessDate: 05-04-2011] Motor Neuron Disease, Secondary Motor Neuron Disease, Secondary[accessedResource: MSH:D016472][accessDate: 05-04-2011] Motor Neuron Disease, Upper Motor Neuron Disease, Upper[accessedResource: MSH:D016472][accessDate: 05-04-2011] Motor Neuron Diseases Motor Neuron Diseases[accessedResource: MSH:D016472][accessDate: 05-04-2011] Motor System Disease Motor System Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011] Motor System Diseases Motor System Diseases[accessedResource: MSH:D016472][accessDate: 05-04-2011] Neuron Disease, Motor Neuron Disease, Motor[accessedResource: MSH:D016472][accessDate: 05-04-2011] Neuron Diseases, Motor Neuron Diseases, Motor[accessedResource: MSH:D016472][accessDate: 05-04-2011] Primary Lateral Scleroses[accessedResource: MSH:D016472][accessDate: 05-04-2011] Primary Lateral Sclerosis[accessedResource: MSH:D016472][accessDate: 05-04-2011] SECOND MOTOR NEURON DIS SECOND MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011] Scleroses, Lateral Scleroses, Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011] Scleroses, Primary Lateral Scleroses, Primary Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011] Sclerosis, Lateral Sclerosis, Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011] Sclerosis, Primary Lateral[accessedResource: MSH:D016472][accessDate: 05-04-2011] Secondary Motor Neuron Disease Secondary Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011] Tomasz Adamusiak UPPER MOTOR NEURON DIS UPPER MOTOR NEURON DIS[accessedResource: MSH:D016472][accessDate: 05-04-2011] Upper Motor Neuron Disease Upper Motor Neuron Disease[accessedResource: MSH:D016472][accessDate: 05-04-2011] progressive bulbar palsy A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900) A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)[accessedResource: MSH:D010244][accessDate: 05-04-2011] Bulbar Palsies Bulbar Palsies, Progressive Bulbar Palsies, Progressive[accessedResource: MSH:D010244][accessDate: 05-04-2011] Bulbar Palsies[accessedResource: MSH:D010244][accessDate: 05-04-2011] Bulbar Palsy, Progressive Bulbar Palsy, Progressive[accessedResource: MSH:D010244][accessDate: 05-04-2011] Bulbar Paralyses Bulbar Paralyses[accessedResource: MSH:D010244][accessDate: 05-04-2011] Bulbar Paralysis Bulbar Paralysis[accessedResource: MSH:D010244][accessDate: 05-04-2011] Bulbar palsy Bulbar palsy[accessedResource: DOID:681][accessDate: 05-04-2011] Childhood Progressive Bulbar Palsy Childhood Progressive Bulbar Palsy[accessedResource: MSH:D010244][accessDate: 05-04-2011] DOID:681 Fazio Londe Syndrome Fazio Londe Syndrome[accessedResource: MSH:D010244][accessDate: 05-04-2011] Fazio-Londe Syndrome Fazio-Londe Syndrome[accessedResource: MSH:D010244][accessDate: 05-04-2011] MSH:D010244 OMIM:211500 Palsies, Bulbar Palsies, Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011] Palsies, Progressive Bulbar Palsies, Progressive Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011] Palsy, Bulbar Palsy, Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011] Palsy, Progressive Bulbar Palsy, Progressive Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011] Paralysis, Bulbar Paralysis, Bulbar[accessedResource: MSH:D010244][accessDate: 05-04-2011] Progressive Bulbar Palsies Progressive Bulbar Palsies[accessedResource: MSH:D010244][accessDate: 05-04-2011] Progressive Bulbar Palsy of Childhood Progressive Bulbar Palsy of Childhood[accessedResource: MSH:D010244][accessDate: 05-04-2011] Syndrome, Fazio-Londe Syndrome, Fazio-Londe[accessedResource: MSH:D010244][accessDate: 05-04-2011] Tomasz Adamusiak progressive bulbar palsy (disorder) progressive bulbar palsy (disorder)[accessedResource: DOID:681][accessDate: 05-04-2011] skin pigmentation Coloration of the skin. Coloration of the skin.[accessedResource: MSH:D012880][accessDate: 05-04-2011] MSH:D012880 Pigmentation, Skin Pigmentation, Skin[accessedResource: MSH:D012880][accessDate: 05-04-2011] Pigmentations, Skin Pigmentations, Skin[accessedResource: MSH:D012880][accessDate: 05-04-2011] Skin Pigmentations Skin Pigmentations[accessedResource: MSH:D012880][accessDate: 05-04-2011] Tomasz Adamusiak true allergy Allergic Reaction Allergic Reaction[accessedResource: MSH:D006967][accessDate: 05-04-2011] Allergic Reactions Allergic Reactions[accessedResource: MSH:D006967][accessDate: 05-04-2011] Allergies Allergies[accessedResource: MSH:D006967][accessDate: 05-04-2011] Allergy is any exaggerated immune response to a foreign antigen regardless of mechanism. Thus it includes atopy. Source: Merck Manual Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen. Altered reactivity to an antigen, which can result in pathologic reactions upon subsequent exposure to that particular antigen.[accessedResource: MSH:D006967][accessDate: 05-04-2011] An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods.[accessedResource: DOID:1205][accessDate: 05-04-2011] DOID:1205 Hypersensitivities Hypersensitivities[accessedResource: MSH:D006967][accessDate: 05-04-2011] MSH:D006967 Reaction, Allergic Reaction, Allergic[accessedResource: MSH:D006967][accessDate: 05-04-2011] Reactions, Allergic Reactions, Allergic[accessedResource: MSH:D006967][accessDate: 05-04-2011] Tomasz Adamusiak hypersensitivity hypersensitivity reaction type I disease hypersensitivity reaction type I disease[accessedResource: DOID:1205][accessDate: 05-04-2011] hypersensitivity[accessedResource: DOID:1205][accessDate: 05-04-2011] cytokine cytokine role gene expression protocol A gene expression protocol is a protocol which is designed to be used in a gene expression experiment performed on arrays or by high throughput sequencing. Helen Parkinson ArrayExpress protocol growth protocol A growth protocol is a protocol which provides instructions on the growth of a biological sample. E.g. the growth of a specific cell line or Drosophila culture Helen Parkinson hybridization protocol A hybridization protocol is the set of instructions or plan for performing a nucleic acid hybridization on an microarray such as those provided by Affymetrix Helen Parkinson microarray hybridization protocol interleukin (Homo sapiens) interleukin (Mus musculus) Helen Parkinson interleukin (Rattus norvegicus) Helen Parkinson interleukin-1 beta (Homo sapiens) Helen Parkinson IL-1beta interleukin-1 beta (Mus musculus) Helen Parkinson IL-1beta mIL-1b interleukin-1 beta (Rattus norvegicus) Helen Parkinson rIL-1b interleukin-13 (Homo sapiens) Helen Parkinson IL-13 interleukin-13 (Mus musculus) Helen Parkinson mIL-13 interleukin-14 (Mus musculus) Helen Parkinson mIL-14 interleukin-17 (Mus musculus) Helen Parkinson mIL-17 interleukin-19 (Homo sapiens) Helen Parkinson IL-19 refractory anemia A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001) A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)[accessedResource: NCIt:C2872][accessDate: 05-04-2011] Aregenerative Anemia Aregenerative Anemia[accessedResource: NCIt:C2872][accessDate: 05-04-2011] Helen Parkinson NCIt:C2872 RA RA[accessedResource: NCIt:C2872][accessDate: 05-04-2011] refractory anaemia interleukin-20 (Homo sapiens) Helen Parkinson IL-20 interleukin-21 (Mus musculus) Helen Parkinson mIL-21 interleukin-24 (Homo sapiens) Helen Parkinson IL-24 interleukin-26 (Homo sapiens) Helen Parkinson IL-26 interleukin-33 (Rattus norvegicus) Helen Parkinson rIL-33 labelling protocol A labelling protocol is a set of instructions or plan which is realised Helen Parkinson labeling protocol sample treatment protocol A sample treatment protocol is a protocol used in a biological experiment and defines instructions on how a sample should be treated in a given experimental scenario. Helen Parkinson interleukin-22 (Homo sapiens) Helen Parkinson IL-22 refractory anemia with excess blasts A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: RAEB-1and RAEB-2. Cases with significant bone marrow reticulin fibrosis are called RAEB with fibrosis. A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: RAEB-1and RAEB-2. Cases with significant bone marrow reticulin fibrosis are called RAEB with fibrosis.[accessedResource: NCIt:C7506][accessDate: 05-04-2011] Helen Parkinson NCIt:C7506 RAEB RAEB[accessedResource: NCIt:C7506][accessDate: 05-04-2011] Refractory Anemia with an Excess of Blasts Refractory Anemia with an Excess of Blasts[accessedResource: NCIt:C7506][accessDate: 05-04-2011] Refractory anemia with excess blasts I and II. refractory anemia with ringed sideroblasts A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. It occurs primarily in older individuals. The median survival exceeds 5 years. (WHO, 2001) A myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts. The ring sideroblast is an erythroid precursor in which one third or more of the nucleus is encircled by granules which are positive for iron stain. It occurs primarily in older individuals. The median survival exceeds 5 years. (WHO, 2001)[accessedResource: NCIt:C4036][accessDate: 05-04-2011] Helen Parkinson NCIt:C4036 Pure Sideroblastic Anemia Pure Sideroblastic Anemia[accessedResource: NCIt:C4036][accessDate: 05-04-2011] RARS RARS[accessedResource: NCIt:C4036][accessDate: 05-04-2011] nucleic acid labeling protocol A protocol description in which input nucleic acid material is labeled. Tomasz Adamusiak array scanning and feature extraction protocol A protocol describing an image acquisition process that generates an image and features extracted in numerical form from an array. Tomasz Adamusiak nucleic acid hybridization to array protocol A protocol describing the hybridisation of the target nucleic acid sample to a fixed probe on the array. Tomasz Adamusiak normalization data transformation protocol A protocol describing a data transformation in which data transformation has the objective normalization. Tomasz Adamusiak laryngeal neoplasm Cancer of Larynx Cancer of Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011] Cancer of the Larynx Cancer of the Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011] Cancer, Laryngeal Cancer, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011] Cancer, Larynx Cancer, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011] Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS. Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.[accessedResource: MSH:D007822][accessDate: 05-04-2011] Cancers, Laryngeal Cancers, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011] Cancers, Larynx Cancers, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011] LARYNGEAL NEOPL LARYNGEAL NEOPL[accessedResource: MSH:D007822][accessDate: 05-04-2011] LARYNX NEOPL LARYNX NEOPL[accessedResource: MSH:D007822][accessDate: 05-04-2011] Laryngeal Cancer Laryngeal Cancer[accessedResource: MSH:D007822][accessDate: 05-04-2011] Laryngeal Cancers Laryngeal Cancers[accessedResource: MSH:D007822][accessDate: 05-04-2011] Laryngeal Neoplasms Laryngeal Neoplasms[accessedResource: MSH:D007822][accessDate: 05-04-2011] Larynx Cancer Larynx Cancer[accessedResource: MSH:D007822][accessDate: 05-04-2011] Larynx Cancers Larynx Cancers[accessedResource: MSH:D007822][accessDate: 05-04-2011] Larynx Neoplasm Larynx Neoplasm[accessedResource: MSH:D007822][accessDate: 05-04-2011] Larynx Neoplasms Larynx Neoplasms[accessedResource: MSH:D007822][accessDate: 05-04-2011] MSH:D007822 NEOPL LARYNGEAL NEOPL LARYNGEAL[accessedResource: MSH:D007822][accessDate: 05-04-2011] Neoplasm, Laryngeal Neoplasm, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011] Neoplasm, Larynx Neoplasm, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011] Neoplasms, Laryngeal Neoplasms, Laryngeal[accessedResource: MSH:D007822][accessDate: 05-04-2011] Neoplasms, Larynx Neoplasms, Larynx[accessedResource: MSH:D007822][accessDate: 05-04-2011] Tomasz Adamusiak lung disease DIS PULM DIS PULM[accessedResource: MSH:D008171][accessDate: 05-04-2011] Disease, Lung Disease, Lung[accessedResource: MSH:D008171][accessDate: 05-04-2011] Disease, Pulmonary Disease, Pulmonary[accessedResource: MSH:D008171][accessDate: 05-04-2011] Diseases, Lung Diseases, Lung[accessedResource: MSH:D008171][accessDate: 05-04-2011] Diseases, Pulmonary Diseases, Pulmonary[accessedResource: MSH:D008171][accessDate: 05-04-2011] LUNG DIS LUNG DIS[accessedResource: MSH:D008171][accessDate: 05-04-2011] Lung Diseases Lung Diseases[accessedResource: MSH:D008171][accessDate: 05-04-2011] MSH:D008171 PULM DIS PULM DIS[accessedResource: MSH:D008171][accessDate: 05-04-2011] Pathological processes involving any part of the LUNG. Pathological processes involving any part of the LUNG.[accessedResource: MSH:D008171][accessDate: 05-04-2011] Pulmonary Disease Pulmonary Disease[accessedResource: MSH:D008171][accessDate: 05-04-2011] Pulmonary Diseases Pulmonary Diseases[accessedResource: MSH:D008171][accessDate: 05-04-2011] Tomasz Adamusiak dental caries CARIES DENT CARIES DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011] Caries, Dental Caries, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011] DECAY DENT DECAY DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011] DENT CARIES DENT CARIES[accessedResource: MSH:D003731][accessDate: 05-04-2011] DENT DECAY DENT DECAY[accessedResource: MSH:D003731][accessDate: 05-04-2011] DENT WHITE SPOT DENT WHITE SPOTS DENT WHITE SPOTS[accessedResource: MSH:D003731][accessDate: 05-04-2011] DENT WHITE SPOT[accessedResource: MSH:D003731][accessDate: 05-04-2011] Decay, Dental Decay, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011] Dental Decay Dental Decay[accessedResource: MSH:D003731][accessDate: 05-04-2011] Dental White Spot Dental White Spot[accessedResource: MSH:D003731][accessDate: 05-04-2011] Dental White Spots Dental White Spots[accessedResource: MSH:D003731][accessDate: 05-04-2011] Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification. Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification.[accessedResource: MSH:D003731][accessDate: 05-04-2011] MSH:D003731 Spot, White Spot, White[accessedResource: MSH:D003731][accessDate: 05-04-2011] Spots, White Spots, White[accessedResource: MSH:D003731][accessDate: 05-04-2011] Tomasz Adamusiak WHITE SPOT DENT WHITE SPOT DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011] WHITE SPOTS DENT WHITE SPOTS DENT[accessedResource: MSH:D003731][accessDate: 05-04-2011] White Spot White Spot, Dental White Spot, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011] White Spot[accessedResource: MSH:D003731][accessDate: 05-04-2011] White Spots White Spots, Dental White Spots, Dental[accessedResource: MSH:D003731][accessDate: 05-04-2011] White Spots[accessedResource: MSH:D003731][accessDate: 05-04-2011] caries true bone neoplasm BONE NEOPL BONE NEOPL[accessedResource: MSH:D001859][accessDate: 05-04-2011] Bone Cancer Bone Cancer[accessedResource: MSH:D001859][accessDate: 05-04-2011] Bone Neoplasms Bone Neoplasms[accessedResource: MSH:D001859][accessDate: 05-04-2011] Cancer of Bone Cancer of Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011] Cancer of the Bone Cancer of the Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011] MSH:D001859 NEOPL BONE NEOPL BONE[accessedResource: MSH:D001859][accessDate: 05-04-2011] Neoplasm, Bone Neoplasm, Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011] Neoplasms, Bone Neoplasms, Bone[accessedResource: MSH:D001859][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer located in bone tissue or specific BONES. Tumors or cancer located in bone tissue or specific BONES.[accessedResource: MSH:D001859][accessDate: 05-04-2011] migraine disorder A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1) A class of disabling primary headache disorders, characterized by recurrent unilateral pulsatile headaches. The two major subtypes are common migraine (without aura) and classic migraine (with aura or neurological symptoms). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)[accessedResource: MSH:D008881][accessDate: 05-04-2011] Abdominal Migraine Abdominal Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Abdominal Migraines Abdominal Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011] Acute Confusional Migraine Acute Confusional Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Acute Confusional Migraines Acute Confusional Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011] Cervical Migraine Syndrome Cervical Migraine Syndrome[accessedResource: MSH:D008881][accessDate: 05-04-2011] Cervical Migraine Syndromes Cervical Migraine Syndromes[accessedResource: MSH:D008881][accessDate: 05-04-2011] Disorder, Migraine Disorder, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Disorders, Migraine Disorders, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Headache, Migraine Headache, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Headache, Sick Headache, Sick[accessedResource: MSH:D008881][accessDate: 05-04-2011] Headaches, Migraine Headaches, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Headaches, Sick Headaches, Sick[accessedResource: MSH:D008881][accessDate: 05-04-2011] Hemicrania Migraine Hemicrania Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Hemicrania Migraines Hemicrania Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011] MSH:D008881 Migraine Migraine Disorders Migraine Disorders[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine Headache Migraine Headache[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine Headaches Migraine Headaches[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine Syndrome, Cervical Migraine Syndrome, Cervical[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine Syndromes, Cervical Migraine Syndromes, Cervical[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine Variant Migraine Variant[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine Variants Migraine Variants[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine, Abdominal Migraine, Abdominal[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine, Acute Confusional Migraine, Acute Confusional[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine, Hemicrania Migraine, Hemicrania[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraines Migraines, Abdominal Migraines, Abdominal[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraines, Acute Confusional Migraines, Acute Confusional[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraines, Hemicrania Migraines, Hemicrania[accessedResource: MSH:D008881][accessDate: 05-04-2011] Migraines[accessedResource: MSH:D008881][accessDate: 05-04-2011] OMIM:157300 Sick Headache Sick Headache[accessedResource: MSH:D008881][accessDate: 05-04-2011] Sick Headaches Sick Headaches[accessedResource: MSH:D008881][accessDate: 05-04-2011] Status Migrainosus Status Migrainosus[accessedResource: MSH:D008881][accessDate: 05-04-2011] Tomasz Adamusiak Variant, Migraine Variant, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] Variants, Migraine Variants, Migraine[accessedResource: MSH:D008881][accessDate: 05-04-2011] true hyperemia Active Hyperemia Active Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011] Arterial Hyperemia Arterial Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011] Congestion, Venous Congestion, Venous[accessedResource: MSH:D006940][accessDate: 05-04-2011] Engorgement, Venous Engorgement, Venous[accessedResource: MSH:D006940][accessDate: 05-04-2011] Hyperemia, Active Hyperemia, Active[accessedResource: MSH:D006940][accessDate: 05-04-2011] Hyperemia, Arterial Hyperemia, Arterial[accessedResource: MSH:D006940][accessDate: 05-04-2011] Hyperemia, Passive Hyperemia, Passive[accessedResource: MSH:D006940][accessDate: 05-04-2011] Hyperemia, Reactive Hyperemia, Reactive[accessedResource: MSH:D006940][accessDate: 05-04-2011] Hyperemias Hyperemias, Reactive Hyperemias, Reactive[accessedResource: MSH:D006940][accessDate: 05-04-2011] Hyperemias[accessedResource: MSH:D006940][accessDate: 05-04-2011] MSH:D006940 NCIt:C50588 Passive Hyperemia Passive Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011] Reactive Hyperemia Reactive Hyperemia[accessedResource: MSH:D006940][accessDate: 05-04-2011] Reactive Hyperemias Reactive Hyperemias[accessedResource: MSH:D006940][accessDate: 05-04-2011] The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous). The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous).[accessedResource: MSH:D006940][accessDate: 05-04-2011] The presence of an increased amount of blood in a part or organ; engorgement. The presence of an increased amount of blood in a part or organ; engorgement.[accessedResource: NCIt:C50588][accessDate: 05-04-2011] Tomasz Adamusiak Venous Congestion Venous Congestion[accessedResource: MSH:D006940][accessDate: 05-04-2011] Venous Engorgement Venous Engorgement[accessedResource: MSH:D006940][accessDate: 05-04-2011] obsolete_spinal muscular atrophy A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089) A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)[accessedResource: MSH:D009134][accessDate: 05-04-2011] Adult Onset Spinal Muscular Atrophy Adult Onset Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Adult Spinal Muscular Atrophy Adult Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Adult-Onset Spinal Muscular Atrophy Adult-Onset Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Atrophies, Progressive Muscular Atrophies, Progressive Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011] Atrophy, Myelopathic Muscular Atrophy, Myelopathic Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011] Atrophy, Progressive Muscular Atrophy, Progressive Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011] Atrophy, Spinal Muscular Atrophy, Spinal Muscular[accessedResource: MSH:D009134][accessDate: 05-04-2011] Bulbospinal Neuronopathies Bulbospinal Neuronopathies[accessedResource: MSH:D009134][accessDate: 05-04-2011] Bulbospinal Neuronopathy Bulbospinal Neuronopathy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Distal Spinal Muscular Atrophy Distal Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] MSH:D009134 Muscular Atrophies, Progressive Muscular Atrophies, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011] Muscular Atrophy, Adult Spinal Muscular Atrophy, Adult Spinal[accessedResource: MSH:D009134][accessDate: 05-04-2011] Muscular Atrophy, Myelopathic Muscular Atrophy, Myelopathic[accessedResource: MSH:D009134][accessDate: 05-04-2011] Muscular Atrophy, Progressive Muscular Atrophy, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011] Muscular Atrophy, Spinal Muscular Atrophy, Spinal[accessedResource: MSH:D009134][accessDate: 05-04-2011] Myelopathic Muscular Atrophy Myelopathic Muscular Atrophy, Progressive Myelopathic Muscular Atrophy, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011] Myelopathic Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Neuronopathies, Bulbospinal Neuronopathies, Bulbospinal[accessedResource: MSH:D009134][accessDate: 05-04-2011] Neuronopathy, Bulbospinal Neuronopathy, Bulbospinal[accessedResource: MSH:D009134][accessDate: 05-04-2011] OMIM:271220 Oculopharyngeal Spinal Muscular Atrophy Oculopharyngeal Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Progressive Muscular Atrophies Progressive Muscular Atrophies[accessedResource: MSH:D009134][accessDate: 05-04-2011] Progressive Muscular Atrophy Progressive Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Progressive Myelopathic Muscular Atrophy Progressive Myelopathic Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Progressive Proximal Myelopathic Muscular Atrophy Progressive Proximal Myelopathic Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Proximal Myelopathic Muscular Atrophy, Progressive Proximal Myelopathic Muscular Atrophy, Progressive[accessedResource: MSH:D009134][accessDate: 05-04-2011] Scapuloperoneal Form of Spinal Muscular Atrophy Scapuloperoneal Form of Spinal Muscular Atrophy[accessedResource: MSH:D009134][accessDate: 05-04-2011] Spinal Muscular Atrophy, Distal Spinal Muscular Atrophy, Distal[accessedResource: MSH:D009134][accessDate: 05-04-2011] Spinal Muscular Atrophy, Oculopharyngeal Spinal Muscular Atrophy, Oculopharyngeal[accessedResource: MSH:D009134][accessDate: 05-04-2011] Spinal Muscular Atrophy, Scapuloperoneal Form Spinal Muscular Atrophy, Scapuloperoneal Form[accessedResource: MSH:D009134][accessDate: 05-04-2011] Tomasz Adamusiak true Reorganised according to Orphanet hierarchy 2.32 eye neoplasm Cancer of Eye Cancer of Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011] Cancer of the Eye Cancer of the Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011] Cancer, Eye Cancer, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011] Cancers, Eye Cancers, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011] EYE NEOPL EYE NEOPL[accessedResource: MSH:D005134][accessDate: 05-04-2011] Eye Cancer Eye Cancer[accessedResource: MSH:D005134][accessDate: 05-04-2011] Eye Cancers Eye Cancers[accessedResource: MSH:D005134][accessDate: 05-04-2011] Eye Neoplasms Eye Neoplasms[accessedResource: MSH:D005134][accessDate: 05-04-2011] MSH:D005134 NEOPL EYE NEOPL EYE[accessedResource: MSH:D005134][accessDate: 05-04-2011] Neoplasm, Eye Neoplasm, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011] Neoplasms, Eye Neoplasms, Eye[accessedResource: MSH:D005134][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the EYE. Tumors or cancer of the EYE.[accessedResource: MSH:D005134][accessDate: 05-04-2011] serous adenocarsinoma A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185) A malignant cystic or semicystic neoplasm. It often occurs in the ovary and usually bilaterally. The external surface is usually covered with papillary excrescences. Microscopically, the papillary patterns are predominantly epithelial overgrowths with differentiated and undifferentiated papillary serous cystadenocarcinoma cells. Psammoma bodies may be present. The tumor generally adheres to surrounding structures and produces ascites. (From Hughes, Obstetric-Gynecologic Terminology, 1972, p185)[accessedResource: MSH:D018284][accessDate: 05-04-2011] Cystadenocarcinoma, Serous Cystadenocarcinoma, Serous[accessedResource: MSH:D018284][accessDate: 05-04-2011] Cystadenocarcinomas, Serous Cystadenocarcinomas, Serous[accessedResource: MSH:D018284][accessDate: 05-04-2011] MSH:D018284 Serous Cystadenocarcinoma Serous Cystadenocarcinoma[accessedResource: MSH:D018284][accessDate: 05-04-2011] Serous Cystadenocarcinomas Serous Cystadenocarcinomas[accessedResource: MSH:D018284][accessDate: 05-04-2011] Tomasz Adamusiak salivary gland neoplasm Cancer of Salivary Gland Cancer of Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011] Cancer of the Salivary Gland Cancer of the Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011] Cancer, Salivary Gland Cancer, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011] Cancers, Salivary Gland Cancers, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011] Gland Neoplasm, Salivary Gland Neoplasm, Salivary[accessedResource: MSH:D012468][accessDate: 05-04-2011] Gland Neoplasms, Salivary Gland Neoplasms, Salivary[accessedResource: MSH:D012468][accessDate: 05-04-2011] MSH:D012468 NEOPL SALIVARY GLAND NEOPL SALIVARY GLAND[accessedResource: MSH:D012468][accessDate: 05-04-2011] Neoplasm, Salivary Gland Neoplasm, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011] Neoplasms, Salivary Gland Neoplasms, Salivary Gland[accessedResource: MSH:D012468][accessDate: 05-04-2011] SALIVARY GLAND NEOPL SALIVARY GLAND NEOPL[accessedResource: MSH:D012468][accessDate: 05-04-2011] Salivary Gland Cancer Salivary Gland Cancer[accessedResource: MSH:D012468][accessDate: 05-04-2011] Salivary Gland Cancers Salivary Gland Cancers[accessedResource: MSH:D012468][accessDate: 05-04-2011] Salivary Gland Neoplasms Salivary Gland Neoplasms[accessedResource: MSH:D012468][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the SALIVARY GLANDS. Tumors or cancer of the SALIVARY GLANDS.[accessedResource: MSH:D012468][accessDate: 05-04-2011] pulmonary embolism Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS. Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.[accessedResource: MSH:D011655][accessDate: 05-04-2011] EMBOLISM PULM EMBOLISM PULM[accessedResource: MSH:D011655][accessDate: 05-04-2011] EMBOLISMS PULM EMBOLISMS PULM[accessedResource: MSH:D011655][accessDate: 05-04-2011] Embolism, Pulmonary Embolism, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011] Embolisms, Pulmonary Embolisms, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011] MSH:D011655 PULM EMBOLISM PULM EMBOLISMS PULM EMBOLISMS[accessedResource: MSH:D011655][accessDate: 05-04-2011] PULM EMBOLISM[accessedResource: MSH:D011655][accessDate: 05-04-2011] PULM THROMBOEMBOLISM PULM THROMBOEMBOLISMS PULM THROMBOEMBOLISMS[accessedResource: MSH:D011655][accessDate: 05-04-2011] PULM THROMBOEMBOLISM[accessedResource: MSH:D011655][accessDate: 05-04-2011] Pulmonary Embolisms Pulmonary Embolisms[accessedResource: MSH:D011655][accessDate: 05-04-2011] Pulmonary Thromboembolism Pulmonary Thromboembolism[accessedResource: MSH:D011655][accessDate: 05-04-2011] Pulmonary Thromboembolisms Pulmonary Thromboembolisms[accessedResource: MSH:D011655][accessDate: 05-04-2011] THROMBOEMBOLISMS PULM THROMBOEMBOLISMS PULM[accessedResource: MSH:D011655][accessDate: 05-04-2011] Thromboembolism, Pulmonary Thromboembolism, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011] Thromboembolisms, Pulmonary Thromboembolisms, Pulmonary[accessedResource: MSH:D011655][accessDate: 05-04-2011] Tomasz Adamusiak spinal cord neoplasm Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA. Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA.[accessedResource: MSH:D013120][accessDate: 05-04-2011] INTRADURAL EXTRAMEDULLARY SPINAL CORD NEOPL INTRADURAL EXTRAMEDULLARY SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011] INTRAMEDULLARY SPINAL CORD NEOPL INTRAMEDULLARY SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011] Intradural Extramedullary Spinal Cord Neoplasms Intradural Extramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011] Intradural-Extramedullary Spinal Cord Neoplasms Intradural-Extramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011] Intramedullary Spinal Cord Neoplasms Intramedullary Spinal Cord Neoplasms, Primary Intramedullary Spinal Cord Neoplasms, Primary[accessedResource: MSH:D013120][accessDate: 05-04-2011] Intramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011] MSH:D013120 NEOPL SPINAL CORD NEOPL SPINAL CORD[accessedResource: MSH:D013120][accessDate: 05-04-2011] Neoplasm, Spinal Cord Neoplasm, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011] Neoplasms, Spinal Cord Neoplasms, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011] PRIMARY INTRAMEDULLARY SPINAL CORD NEOPL PRIMARY INTRAMEDULLARY SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011] PRIMARY SPINAL CORD NEOPL INTRAMEDULLARY PRIMARY SPINAL CORD NEOPL INTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011] Primary Intramedullary Spinal Cord Neoplasms Primary Intramedullary Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011] Primary Spinal Cord Neoplasms, Intramedullary Primary Spinal Cord Neoplasms, Intramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011] SPINAL CORD NEOPL SPINAL CORD NEOPL BENIGN SPINAL CORD NEOPL BENIGN[accessedResource: MSH:D013120][accessDate: 05-04-2011] SPINAL CORD NEOPL INTRADURAL EXTRAMEDULLARY SPINAL CORD NEOPL INTRADURAL EXTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011] SPINAL CORD NEOPL INTRAMEDULLARY SPINAL CORD NEOPL INTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011] SPINAL CORD NEOPL MALIGNANT SPINAL CORD NEOPL MALIGNANT[accessedResource: MSH:D013120][accessDate: 05-04-2011] SPINAL CORD NEOPL PRIMARY INTRAMEDULLARY SPINAL CORD NEOPL PRIMARY INTRAMEDULLARY[accessedResource: MSH:D013120][accessDate: 05-04-2011] SPINAL CORD NEOPL[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Neoplasms Spinal Cord Neoplasms, Benign Spinal Cord Neoplasms, Benign[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Neoplasms, Intradural Extramedullary Spinal Cord Neoplasms, Intradural Extramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Neoplasms, Intradural-Extramedullary Spinal Cord Neoplasms, Intradural-Extramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Neoplasms, Intramedullary Spinal Cord Neoplasms, Intramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Neoplasms, Malignant Spinal Cord Neoplasms, Malignant[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Neoplasms, Primary Intramedullary Spinal Cord Neoplasms, Primary Intramedullary[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Neoplasms[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Tumor Spinal Cord Tumor[accessedResource: MSH:D013120][accessDate: 05-04-2011] Spinal Cord Tumors Spinal Cord Tumors[accessedResource: MSH:D013120][accessDate: 05-04-2011] Tomasz Adamusiak Tumor, Spinal Cord Tumor, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011] Tumors, Spinal Cord Tumors, Spinal Cord[accessedResource: MSH:D013120][accessDate: 05-04-2011] alcohol dependence A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4) A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)[accessedResource: MSH:D000437][accessDate: 05-04-2011] ALCOHOL RELATED DIS ALCOHOL RELATED DIS[accessedResource: MSH:D019973][accessDate: 05-04-2011] ALCOHOLIC INTOX CHRONIC ALCOHOLIC INTOX CHRONIC[accessedResource: MSH:D000437][accessDate: 05-04-2011] Abuse, Alcohol Abuse, Alcohol[accessedResource: MSH:D000437][accessDate: 05-04-2011] Alcohol Abuse Alcohol Abuse[accessedResource: MSH:D000437][accessDate: 05-04-2011] Alcohol Related Disorders Alcohol Related Disorders[accessedResource: MSH:D019973][accessDate: 05-04-2011] Alcohol-Related Disorder Alcohol-Related Disorder[accessedResource: MSH:D019973][accessDate: 05-04-2011] Alcohol-Related Disorders Alcohol-Related Disorders[accessedResource: MSH:D019973][accessDate: 05-04-2011] Alcoholic Intoxication, Chronic Alcoholic Intoxication, Chronic[accessedResource: MSH:D000437][accessDate: 05-04-2011] Alcoholism[accessedResource: MSH:D000437][accessDate: 05-04-2011] Chronic Alcoholic Intoxication Chronic Alcoholic Intoxication[accessedResource: MSH:D000437][accessDate: 05-04-2011] Disorder, Alcohol-Related Disorder, Alcohol-Related[accessedResource: MSH:D019973][accessDate: 05-04-2011] Disorders related to or resulting from abuse or mis-use of alcohol. Disorders related to or resulting from abuse or mis-use of alcohol.[accessedResource: MSH:D019973][accessDate: 05-04-2011] Disorders, Alcohol-Related Disorders, Alcohol-Related[accessedResource: MSH:D019973][accessDate: 05-04-2011] Intoxication, Chronic Alcoholic Intoxication, Chronic Alcoholic[accessedResource: MSH:D000437][accessDate: 05-04-2011] MSH:D000437 MSH:D019973 OMIM:103780 Tomasz Adamusiak alcoholism true prostatitis Acute Bacterial Prostatitides Acute Bacterial Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011] Acute Bacterial Prostatitis Acute Bacterial Prostatitis[accessedResource: MSH:D011472][accessDate: 05-04-2011] Asymptomatic Inflammatory Prostatitides Asymptomatic Inflammatory Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011] Asymptomatic Inflammatory Prostatitis Asymptomatic Inflammatory Prostatitis[accessedResource: MSH:D011472][accessDate: 05-04-2011] Bacterial Prostatitides, Acute Bacterial Prostatitides, Acute[accessedResource: MSH:D011472][accessDate: 05-04-2011] Bacterial Prostatitides, Chronic Bacterial Prostatitides, Chronic[accessedResource: MSH:D011472][accessDate: 05-04-2011] Bacterial Prostatitis, Acute Bacterial Prostatitis, Acute[accessedResource: MSH:D011472][accessDate: 05-04-2011] Bacterial Prostatitis, Chronic Bacterial Prostatitis, Chronic[accessedResource: MSH:D011472][accessDate: 05-04-2011] Chronic Bacterial Prostatitides Chronic Bacterial Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011] Chronic Bacterial Prostatitis Chronic Bacterial Prostatitis[accessedResource: MSH:D011472][accessDate: 05-04-2011] Chronic Prostatitis with Chronic Pelvic Pain Syndrome Chronic Prostatitis with Chronic Pelvic Pain Syndrome[accessedResource: MSH:D011472][accessDate: 05-04-2011] Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment. Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment.[accessedResource: MSH:D011472][accessDate: 05-04-2011] Inflammatory Prostatitis, Asymptomatic Inflammatory Prostatitis, Asymptomatic[accessedResource: MSH:D011472][accessDate: 05-04-2011] MSH:D011472 Prostatitides Prostatitides, Chronic Bacterial Prostatitides, Chronic Bacterial[accessedResource: MSH:D011472][accessDate: 05-04-2011] Prostatitides[accessedResource: MSH:D011472][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_chromosome disorder AUTOSOMAL CHROMOSOME DIS AUTOSOMAL CHROMOSOME DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011] Autosomal Chromosome Disorder Autosomal Chromosome Disorder[accessedResource: MSH:D025063][accessDate: 05-04-2011] Autosomal Chromosome Disorders Autosomal Chromosome Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011] CHROMOSOMAL DIS CHROMOSOMAL DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011] CHROMOSOME ABNORM DIS CHROMOSOME ABNORM DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011] CHROMOSOME DIS CHROMOSOME DIS[accessedResource: MSH:D025063][accessDate: 05-04-2011] Chromosomal Disorder Chromosomal Disorder[accessedResource: MSH:D025063][accessDate: 05-04-2011] Chromosomal Disorders Chromosomal Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011] Chromosome Abnormality Disorder Chromosome Abnormality Disorder[accessedResource: MSH:D025063][accessDate: 05-04-2011] Chromosome Abnormality Disorders Chromosome Abnormality Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011] Chromosome Disorder, Autosomal Chromosome Disorder, Autosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011] Chromosome Disorders Chromosome Disorders, Autosomal Chromosome Disorders, Autosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011] Chromosome Disorders[accessedResource: MSH:D025063][accessDate: 05-04-2011] Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)[accessedResource: MSH:D025063][accessDate: 05-04-2011] Disorder, Chromosomal Disorder, Chromosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011] Disorder, Chromosome Disorder, Chromosome Abnormality Disorder, Chromosome Abnormality[accessedResource: MSH:D025063][accessDate: 05-04-2011] Disorder, Chromosome[accessedResource: MSH:D025063][accessDate: 05-04-2011] Disorders, Chromosomal Disorders, Chromosomal[accessedResource: MSH:D025063][accessDate: 05-04-2011] Disorders, Chromosome Disorders, Chromosome[accessedResource: MSH:D025063][accessDate: 05-04-2011] MSH:D025063 Tomasz Adamusiak true 2.32 Reorganised into the Orphanet hierarchy gall bladder disease Bladder Disease, Gall Bladder Disease, Gall[accessedResource: MSH:D005705][accessDate: 05-04-2011] Bladder Diseases, Gall Bladder Diseases, Gall[accessedResource: MSH:D005705][accessDate: 05-04-2011] Disease, Gall Bladder Disease, Gall Bladder[accessedResource: MSH:D005705][accessDate: 05-04-2011] Disease, Gallbladder Disease, Gallbladder[accessedResource: MSH:D005705][accessDate: 05-04-2011] Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases. Diseases of the GALLBLADDER. They generally involve the impairment of BILE flow, GALLSTONES in the BILIARY TRACT, infections, neoplasms, or other diseases.[accessedResource: MSH:D005705][accessDate: 05-04-2011] Diseases, Gall Bladder Diseases, Gall Bladder[accessedResource: MSH:D005705][accessDate: 05-04-2011] Diseases, Gallbladder Diseases, Gallbladder[accessedResource: MSH:D005705][accessDate: 05-04-2011] GALL BLADDER DIS GALL BLADDER DIS[accessedResource: MSH:D005705][accessDate: 05-04-2011] GALLBLADDER DIS GALLBLADDER DIS[accessedResource: MSH:D005705][accessDate: 05-04-2011] Gall Bladder Diseases Gall Bladder Diseases[accessedResource: MSH:D005705][accessDate: 05-04-2011] Gallbladder Disease Gallbladder Disease[accessedResource: MSH:D005705][accessDate: 05-04-2011] Gallbladder Diseases Gallbladder Diseases[accessedResource: MSH:D005705][accessDate: 05-04-2011] MSH:D005705 OMIM:609919 Tomasz Adamusiak brain neoplasm BENIGN NEOPL BRAIN BENIGN NEOPL BRAIN[accessedResource: MSH:D001932][accessDate: 05-04-2011] BRAIN NEOPL BRAIN NEOPL BENIGN BRAIN NEOPL BENIGN[accessedResource: MSH:D001932][accessDate: 05-04-2011] BRAIN NEOPL MALIGNANT BRAIN NEOPL MALIGNANT PRIMARY BRAIN NEOPL MALIGNANT PRIMARY[accessedResource: MSH:D001932][accessDate: 05-04-2011] BRAIN NEOPL MALIGNANT[accessedResource: MSH:D001932][accessDate: 05-04-2011] BRAIN NEOPL PRIMARY BRAIN NEOPL PRIMARY MALIGNANT BRAIN NEOPL PRIMARY MALIGNANT[accessedResource: MSH:D001932][accessDate: 05-04-2011] BRAIN NEOPL PRIMARY[accessedResource: MSH:D001932][accessDate: 05-04-2011] BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011] Benign Brain Neoplasm Benign Brain Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011] Benign Brain Neoplasms Benign Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Benign Neoplasm, Brain Benign Neoplasm, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Benign Neoplasms, Brain Benign Neoplasms, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Benign Neoplasm Brain Benign Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Benign Neoplasms Brain Benign Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Cancer Brain Cancer[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Cancers Brain Cancers[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Malignant Neoplasm Brain Malignant Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Malignant Neoplasms Brain Malignant Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasm, Benign Brain Neoplasm, Benign[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasm, Malignant Brain Neoplasm, Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasm, Primary Brain Neoplasm, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasms Brain Neoplasms, Benign Brain Neoplasms, Benign[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasms, Malignant Brain Neoplasms, Malignant, Primary Brain Neoplasms, Malignant, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasms, Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasms, Primary Brain Neoplasms, Primary Malignant Brain Neoplasms, Primary Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasms, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Tumor Brain Tumor, Primary Brain Tumor, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Tumor, Recurrent Brain Tumor, Recurrent[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Tumor[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Tumors Brain Tumors, Primary Brain Tumors, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Tumors, Recurrent Brain Tumors, Recurrent[accessedResource: MSH:D001932][accessDate: 05-04-2011] Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011] Cancer of Brain Cancer of Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Cancer of the Brain Cancer of the Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Cancer, Brain Cancer, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Cancers, Brain Cancers, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] INTRACRANIAL NEOPL INTRACRANIAL NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011] Intracranial Neoplasm Intracranial Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011] Intracranial Neoplasms Intracranial Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] MALIGNANT NEOPL BRAIN MALIGNANT NEOPL BRAIN[accessedResource: MSH:D001932][accessDate: 05-04-2011] MALIGNANT PRIMARY BRAIN NEOPL MALIGNANT PRIMARY BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011] MSH:D001932 Malignant Brain Neoplasm Malignant Brain Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011] Malignant Brain Neoplasms Malignant Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Malignant Neoplasm, Brain Malignant Neoplasm, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Malignant Neoplasms, Brain Malignant Neoplasms, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Malignant Primary Brain Neoplasms Malignant Primary Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Malignant Primary Brain Tumors Malignant Primary Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011] NEOPL BRAIN NEOPL BRAIN BENIGN NEOPL BRAIN BENIGN[accessedResource: MSH:D001932][accessDate: 05-04-2011] NEOPL BRAIN MALIGNANT NEOPL BRAIN MALIGNANT[accessedResource: MSH:D001932][accessDate: 05-04-2011] NEOPL BRAIN PRIMARY NEOPL BRAIN PRIMARY[accessedResource: MSH:D001932][accessDate: 05-04-2011] NEOPL BRAIN[accessedResource: MSH:D001932][accessDate: 05-04-2011] NEOPL INTRACRANIAL NEOPL INTRACRANIAL[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasm, Brain Neoplasm, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasm, Intracranial Neoplasm, Intracranial[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasms, Brain Neoplasms, Brain, Benign Neoplasms, Brain, Benign[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasms, Brain, Malignant Neoplasms, Brain, Malignant[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasms, Brain, Primary Neoplasms, Brain, Primary[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasms, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Neoplasms, Intracranial Neoplasms, Intracranial[accessedResource: MSH:D001932][accessDate: 05-04-2011] PRIMARY BRAIN NEOPL PRIMARY BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011] PRIMARY MALIGNANT BRAIN NEOPL PRIMARY MALIGNANT BRAIN NEOPL[accessedResource: MSH:D001932][accessDate: 05-04-2011] Primary Brain Neoplasm Primary Brain Neoplasm[accessedResource: MSH:D001932][accessDate: 05-04-2011] Primary Brain Neoplasms Primary Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Primary Brain Tumor Primary Brain Tumor[accessedResource: MSH:D001932][accessDate: 05-04-2011] Primary Brain Tumors Primary Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011] Primary Malignant Brain Neoplasms Primary Malignant Brain Neoplasms[accessedResource: MSH:D001932][accessDate: 05-04-2011] Primary Malignant Brain Tumors Primary Malignant Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011] Recurrent Brain Tumor Recurrent Brain Tumor[accessedResource: MSH:D001932][accessDate: 05-04-2011] Recurrent Brain Tumors Recurrent Brain Tumors[accessedResource: MSH:D001932][accessDate: 05-04-2011] Tomasz Adamusiak Tumor, Brain Tumor, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] Tumors, Brain Tumors, Brain[accessedResource: MSH:D001932][accessDate: 05-04-2011] cutaneous lupus erythematosus A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID). A form of lupus erythematosus in which the skin may be the only organ involved or in which skin involvement precedes the spread into other body systems. It has been classified into three forms - acute (= LUPUS ERYTHEMATOSUS, SYSTEMIC with skin lesions), subacute, and chronic (= LUPUS ERYTHEMATOSUS, DISCOID).[accessedResource: MSH:D008178][accessDate: 05-04-2011] Lupus Erythematosus, Cutaneous Lupus Erythematosus, Cutaneous, Subacute Lupus Erythematosus, Cutaneous, Subacute[accessedResource: MSH:D008178][accessDate: 05-04-2011] Lupus Erythematosus, Cutaneous[accessedResource: MSH:D008178][accessDate: 05-04-2011] Lupus Erythematosus, Subacute Cutaneous Lupus Erythematosus, Subacute Cutaneous[accessedResource: MSH:D008178][accessDate: 05-04-2011] MSH:D008178 Tomasz Adamusiak anal neoplasm ANAL NEOPL ANAL NEOPL[accessedResource: MSH:D001005][accessDate: 05-04-2011] ANUS NEOPL ANUS NEOPL[accessedResource: MSH:D001005][accessDate: 05-04-2011] Anal Cancer Anal Cancer[accessedResource: MSH:D001005][accessDate: 05-04-2011] Anal Cancers Anal Cancers[accessedResource: MSH:D001005][accessDate: 05-04-2011] Anal Neoplasms Anal Neoplasms[accessedResource: MSH:D001005][accessDate: 05-04-2011] Anus Cancer Anus Cancer[accessedResource: MSH:D001005][accessDate: 05-04-2011] Anus Cancers Anus Cancers[accessedResource: MSH:D001005][accessDate: 05-04-2011] Anus Neoplasm Anus Neoplasm[accessedResource: MSH:D001005][accessDate: 05-04-2011] Anus Neoplasms Anus Neoplasms[accessedResource: MSH:D001005][accessDate: 05-04-2011] Cancer of Anus Cancer of Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011] Cancer of the Anus Cancer of the Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011] Cancer, Anal Cancer, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011] Cancers, Anal Cancers, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011] MSH:D001005 NEOPL ANAL NEOPL ANAL[accessedResource: MSH:D001005][accessDate: 05-04-2011] NEOPL ANUS NEOPL ANUS[accessedResource: MSH:D001005][accessDate: 05-04-2011] Neoplasm, Anal Neoplasm, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011] Neoplasm, Anus Neoplasm, Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011] Neoplasms, Anal Neoplasms, Anal[accessedResource: MSH:D001005][accessDate: 05-04-2011] Neoplasms, Anus Neoplasms, Anus[accessedResource: MSH:D001005][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the ANAL CANAL. Tumors or cancer of the ANAL CANAL.[accessedResource: MSH:D001005][accessDate: 05-04-2011] lipoprotein Circulating Lipoproteins Circulating Lipoproteins[accessedResource: MSH:D008074][accessDate: 05-04-2011] Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes. Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.[accessedResource: MSH:D008074][accessDate: 05-04-2011] Lipoproteins Lipoproteins, Circulating Lipoproteins, Circulating[accessedResource: MSH:D008074][accessDate: 05-04-2011] Lipoproteins[accessedResource: MSH:D008074][accessDate: 05-04-2011] MSH:D008074 Tomasz Adamusiak calcification Bone Mineralization Bone Mineralization[accessedResource: MSH:D002113][accessDate: 05-04-2011] CALCIFICATION PHYSIOL CALCIFICATION PHYSIOL[accessedResource: MSH:D002113][accessDate: 05-04-2011] CALCIUM DEPOSIT(S) CALCIUM DEPOSIT(S)[accessedResource: NCIt:C3672][accessDate: 05-04-2011] Calcification, Physiologic Calcification, Physiologic[accessedResource: MSH:D002113][accessDate: 05-04-2011] Calcification, Physiological Calcification, Physiological[accessedResource: MSH:D002113][accessDate: 05-04-2011] DEPOSIT(S), CALCIUM DEPOSIT(S), CALCIUM[accessedResource: NCIt:C3672][accessDate: 05-04-2011] Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer. Deposition of calcium in the tissues. It may be the result of a metabolic disorder or long-standing infection, or it may be associated with the presence of cancer.[accessedResource: NCIt:C3672][accessDate: 05-04-2011] MSH:D002113 Mineralization, Bone Mineralization, Bone[accessedResource: MSH:D002113][accessDate: 05-04-2011] NCIt:C3672 PHYSIOL CALCIFICATION PHYSIOL CALCIFICATION[accessedResource: MSH:D002113][accessDate: 05-04-2011] Physiologic Calcification Physiologic Calcification[accessedResource: MSH:D002113][accessDate: 05-04-2011] Physiological Calcification Physiological Calcification[accessedResource: MSH:D002113][accessDate: 05-04-2011] Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts. Process by which organic tissue becomes hardened by the physiologic deposit of calcium salts.[accessedResource: MSH:D002113][accessDate: 05-04-2011] Tomasz Adamusiak calcinosis calcinosis[accessedResource: NCIt:C3672][accessDate: 05-04-2011] macrocalcification macrocalcification[accessedResource: NCIt:C3672][accessDate: 05-04-2011] obsolete_inflammation A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.[accessedResource: MSH:D007249][accessDate: 05-04-2011] INFLAMM INFLAMM[accessedResource: MSH:D007249][accessDate: 05-04-2011] Inflammations Inflammations[accessedResource: MSH:D007249][accessDate: 05-04-2011] MSH:D007249 Tomasz Adamusiak true true Replaced with an import from GO 'inflammatory response' under process. retinopathy Any disease or disorder of the retina. Any disease or disorder of the retina.[accessedResource: NCIt:C62601][accessDate: 05-04-2011] NCIt:C62601 Tomasz Adamusiak chronic progressive multiple sclerosis A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)[accessedResource: MSH:D020528][accessDate: 05-04-2011] MS CHRONIC PROGRESSIVE MS CHRONIC PROGRESSIVE[accessedResource: MSH:D020528][accessDate: 05-04-2011] MSH:D020528 MULTIPLE SCLEROSIS SECOND PROGRESSIVE MULTIPLE SCLEROSIS SECOND PROGRESSIVE[accessedResource: MSH:D020528][accessDate: 05-04-2011] Multiple Sclerosis, Chronic Progressive Multiple Sclerosis, Chronic Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011] Multiple Sclerosis, Primary Progressive Multiple Sclerosis, Primary Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011] Multiple Sclerosis, Progressive Relapsing Multiple Sclerosis, Progressive Relapsing[accessedResource: MSH:D020528][accessDate: 05-04-2011] Multiple Sclerosis, Remittent Progressive Multiple Sclerosis, Remittent Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011] Multiple Sclerosis, Secondary Progressive Multiple Sclerosis, Secondary Progressive[accessedResource: MSH:D020528][accessDate: 05-04-2011] Primary Progressive Multiple Sclerosis Primary Progressive Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011] Progressive Relapsing Multiple Sclerosis Progressive Relapsing Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011] Remittent Progressive Multiple Sclerosis Remittent Progressive Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011] SECOND PROGRESSIVE MULTIPLE SCLEROSIS SECOND PROGRESSIVE MULTIPLE SCLEROSIS[accessedResource: MSH:D020528][accessDate: 05-04-2011] Secondary Progressive Multiple Sclerosis Secondary Progressive Multiple Sclerosis[accessedResource: MSH:D020528][accessDate: 05-04-2011] Tomasz Adamusiak thyroid neoplasm Adenoma, Thyroid Adenoma, Thyroid[accessedResource: MSH:D013964][accessDate: 05-04-2011] MSH:D013964 NEOPL THYROID NEOPL THYROID[accessedResource: MSH:D013964][accessDate: 05-04-2011] Neoplasm, Thyroid Neoplasm, Thyroid[accessedResource: MSH:D013964][accessDate: 05-04-2011] Neoplasms, Thyroid Neoplasms, Thyroid[accessedResource: MSH:D013964][accessDate: 05-04-2011] THYROID NEOPL THYROID NEOPL[accessedResource: MSH:D013964][accessDate: 05-04-2011] Thyroid Adenoma[accessedResource: MSH:D013964][accessDate: 05-04-2011] Thyroid Neoplasms Thyroid Neoplasms[accessedResource: MSH:D013964][accessDate: 05-04-2011] Tomasz Adamusiak true bone of lower extremity Bones of Lower Extremity Bones of Lower Extremity[accessedResource: MSH:D050281][accessDate: 05-04-2011] Extremity Bones, Lower Extremity Bones, Lower[accessedResource: MSH:D050281][accessDate: 05-04-2011] Lower Extremity Bones Lower Extremity Bones[accessedResource: MSH:D050281][accessDate: 05-04-2011] MSH:D050281 The bones of the upper and lower LEG. They include the PELVIC BONES. The bones of the upper and lower LEG. They include the PELVIC BONES.[accessedResource: MSH:D050281][accessDate: 05-04-2011] Tomasz Adamusiak pain Ache Ache[accessedResource: MSH:D010146][accessDate: 05-04-2011] Aches Aches[accessedResource: MSH:D010146][accessDate: 05-04-2011] An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.[accessedResource: MSH:D010146][accessDate: 05-04-2011] Burning Pain Burning Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011] Burning Pains Burning Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011] Crushing Pain Crushing Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011] Crushing Pains Crushing Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011] MSH:D010146 Migratory Pain Migratory Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011] Migratory Pains Migratory Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pain, Burning Pain, Burning[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pain, Crushing Pain, Crushing[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pain, Migratory Pain, Migratory[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pain, Radiating Pain, Radiating[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pain, Splitting Pain, Splitting[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pains, Burning Pains, Burning[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pains, Crushing Pains, Crushing[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pains, Migratory Pains, Migratory[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pains, Radiating Pains, Radiating[accessedResource: MSH:D010146][accessDate: 05-04-2011] Pains, Splitting Pains, Splitting[accessedResource: MSH:D010146][accessDate: 05-04-2011] Physical Suffering Physical Suffering[accessedResource: MSH:D010146][accessDate: 05-04-2011] Physical Sufferings Physical Sufferings[accessedResource: MSH:D010146][accessDate: 05-04-2011] Radiating Pain Radiating Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011] Radiating Pains Radiating Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011] Splitting Pain Splitting Pain[accessedResource: MSH:D010146][accessDate: 05-04-2011] Splitting Pains Splitting Pains[accessedResource: MSH:D010146][accessDate: 05-04-2011] Suffering, Physical Suffering, Physical[accessedResource: MSH:D010146][accessDate: 05-04-2011] Sufferings, Physical Sufferings, Physical[accessedResource: MSH:D010146][accessDate: 05-04-2011] Tomasz Adamusiak true ureteral neoplasm Cancer of Ureter Cancer of Ureter[accessedResource: MSH:D014516][accessDate: 05-04-2011] Cancer of the Ureter Cancer of the Ureter[accessedResource: MSH:D014516][accessDate: 05-04-2011] Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom. Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom.[accessedResource: MSH:D014516][accessDate: 05-04-2011] Cancer, Ureteral Cancer, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011] Cancers, Ureteral Cancers, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011] MSH:D014516 NEOPL URETER NEOPL URETERAL NEOPL URETERAL[accessedResource: MSH:D014516][accessDate: 05-04-2011] NEOPL URETER[accessedResource: MSH:D014516][accessDate: 05-04-2011] Neoplasm, Ureteral Neoplasm, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011] Neoplasms of Ureter Neoplasms of Ureter[accessedResource: MSH:D014516][accessDate: 05-04-2011] Neoplasms, Ureteral Neoplasms, Ureteral[accessedResource: MSH:D014516][accessDate: 05-04-2011] OMIM:191600 Tomasz Adamusiak URETER NEOPL URETER NEOPL[accessedResource: MSH:D014516][accessDate: 05-04-2011] URETERAL NEOPL URETERAL NEOPL[accessedResource: MSH:D014516][accessDate: 05-04-2011] Ureter Cancer Ureter Cancer[accessedResource: MSH:D014516][accessDate: 05-04-2011] Ureter Cancers Ureter Cancers[accessedResource: MSH:D014516][accessDate: 05-04-2011] Ureter Neoplasm Ureter Neoplasm[accessedResource: MSH:D014516][accessDate: 05-04-2011] Ureter Neoplasms Ureter Neoplasms[accessedResource: MSH:D014516][accessDate: 05-04-2011] Ureteral Cancer Ureteral Cancer[accessedResource: MSH:D014516][accessDate: 05-04-2011] Ureteral Cancers Ureteral Cancers[accessedResource: MSH:D014516][accessDate: 05-04-2011] Ureteral Neoplasms Ureteral Neoplasms[accessedResource: MSH:D014516][accessDate: 05-04-2011] kidney stone Calculi, Kidney Calculi, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011] Calculi, Renal Calculi, Renal[accessedResource: MSH:D007669][accessDate: 05-04-2011] Calculus, Kidney Calculus, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011] Calculus, Renal Calculus, Renal[accessedResource: MSH:D007669][accessDate: 05-04-2011] Kidney Calculi Kidney Calculi[accessedResource: MSH:D007669][accessDate: 05-04-2011] Kidney Calculus Kidney Calculus[accessedResource: MSH:D007669][accessDate: 05-04-2011] Kidney Stones Kidney Stones[accessedResource: MSH:D007669][accessDate: 05-04-2011] MSH:D007669 OMIM:167030 Renal Calculi Renal Calculi[accessedResource: MSH:D007669][accessDate: 05-04-2011] Renal Calculus Renal Calculus[accessedResource: MSH:D007669][accessDate: 05-04-2011] Stone, Kidney Stone, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011] Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE. Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE.[accessedResource: MSH:D007669][accessDate: 05-04-2011] Stones, Kidney Stones, Kidney[accessedResource: MSH:D007669][accessDate: 05-04-2011] Tomasz Adamusiak true urethral neoplasm Cancer of Urethra Cancer of Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011] Cancer of the Urethra Cancer of the Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011] Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males. Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males.[accessedResource: MSH:D014523][accessDate: 05-04-2011] Cancer, Urethra Cancer, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011] Cancer, Urethral Cancer, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011] Cancers, Urethra Cancers, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011] Cancers, Urethral Cancers, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011] MSH:D014523 NEOPL URETHRAL NEOPL URETHRAL[accessedResource: MSH:D014523][accessDate: 05-04-2011] Neoplasm, Urethra Neoplasm, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011] Neoplasm, Urethral Neoplasm, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011] Neoplasms, Urethra Neoplasms, Urethra[accessedResource: MSH:D014523][accessDate: 05-04-2011] Neoplasms, Urethral Neoplasms, Urethral[accessedResource: MSH:D014523][accessDate: 05-04-2011] Tomasz Adamusiak URETHRA NEOPL URETHRA NEOPL[accessedResource: MSH:D014523][accessDate: 05-04-2011] URETHRAL NEOPL URETHRAL NEOPL[accessedResource: MSH:D014523][accessDate: 05-04-2011] Urethra Cancer Urethra Cancer[accessedResource: MSH:D014523][accessDate: 05-04-2011] Urethra Cancers Urethra Cancers[accessedResource: MSH:D014523][accessDate: 05-04-2011] Urethra Neoplasm Urethra Neoplasm[accessedResource: MSH:D014523][accessDate: 05-04-2011] Urethra Neoplasms Urethra Neoplasms[accessedResource: MSH:D014523][accessDate: 05-04-2011] Urethral Cancer Urethral Cancer[accessedResource: MSH:D014523][accessDate: 05-04-2011] Urethral Cancers Urethral Cancers[accessedResource: MSH:D014523][accessDate: 05-04-2011] Urethral Neoplasms Urethral Neoplasms[accessedResource: MSH:D014523][accessDate: 05-04-2011] mental retardation DEFIC MENTAL DEFIC MENTAL[accessedResource: MSH:D008607][accessDate: 05-04-2011] Deficiencies, Mental Deficiencies, Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011] Deficiency, Mental Deficiency, Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011] Disabilities, Intellectual Disabilities, Intellectual[accessedResource: MSH:D008607][accessDate: 05-04-2011] Disability, Intellectual Disability, Intellectual[accessedResource: MSH:D008607][accessDate: 05-04-2011] Idiocy Idiocy[accessedResource: MSH:D008607][accessDate: 05-04-2011] Intellectual Disabilities Intellectual Disabilities[accessedResource: MSH:D008607][accessDate: 05-04-2011] Intellectual Disability Intellectual Disability[accessedResource: MSH:D008607][accessDate: 05-04-2011] MENTAL DEFIC MENTAL DEFIC[accessedResource: MSH:D008607][accessDate: 05-04-2011] MSH:D008607 Mental Deficiencies Mental Deficiencies[accessedResource: MSH:D008607][accessDate: 05-04-2011] Mental Deficiency Mental Deficiency[accessedResource: MSH:D008607][accessDate: 05-04-2011] Mental Retardation, Psychosocial Mental Retardation, Psychosocial[accessedResource: MSH:D008607][accessDate: 05-04-2011] Mental Retardations, Psychosocial Mental Retardations, Psychosocial[accessedResource: MSH:D008607][accessDate: 05-04-2011] Psychosocial Mental Retardation Psychosocial Mental Retardation[accessedResource: MSH:D008607][accessDate: 05-04-2011] Psychosocial Mental Retardations Psychosocial Mental Retardations[accessedResource: MSH:D008607][accessDate: 05-04-2011] Retardation, Mental Retardation, Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011] Retardation, Psychosocial Mental Retardation, Psychosocial Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011] Retardations, Psychosocial Mental Retardations, Psychosocial Mental[accessedResource: MSH:D008607][accessDate: 05-04-2011] Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28) Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded. IQ scores between 70 and 79 are in the borderline mentally retarded range. Scores below 67 are in the retarded range. (Joynt, Clinical Neurology, 1992, Ch55, p28)[accessedResource: MSH:D008607][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_cardiovascular abnormality ABNORM CARDIOVASC ABNORM CARDIOVASC[accessedResource: MSH:D018376][accessDate: 05-04-2011] Abnormalities, Cardiovascular Abnormalities, Cardiovascular[accessedResource: MSH:D018376][accessDate: 05-04-2011] Abnormality, Cardiovascular Abnormality, Cardiovascular[accessedResource: MSH:D018376][accessDate: 05-04-2011] CARDIOVASC ABNORM CARDIOVASC ABNORM[accessedResource: MSH:D018376][accessDate: 05-04-2011] Cardiovascular Abnormalities Cardiovascular Abnormalities[accessedResource: MSH:D018376][accessDate: 05-04-2011] Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS. Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.[accessedResource: MSH:D018376][accessDate: 05-04-2011] MSH:D018376 Tomasz Adamusiak 2.32.2 organisational class no longer needed (no child classes) true palatal neoplasm MSH:D010157 Neoplasm, Palatal Neoplasm, Palatal[accessedResource: MSH:D010157][accessDate: 05-04-2011] Neoplasms, Palatal Neoplasms, Palatal[accessedResource: MSH:D010157][accessDate: 05-04-2011] PALATAL NEOPL PALATAL NEOPL[accessedResource: MSH:D010157][accessDate: 05-04-2011] Palatal Neoplasms Palatal Neoplasms[accessedResource: MSH:D010157][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA. Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA.[accessedResource: MSH:D010157][accessDate: 05-04-2011] adrenal gland neoplasm ADRENAL GLAND NEOPL ADRENAL GLAND NEOPL[accessedResource: MSH:D000310][accessDate: 05-04-2011] Adrenal Cancer Adrenal Cancer[accessedResource: MSH:D000310][accessDate: 05-04-2011] Adrenal Cancers Adrenal Cancers[accessedResource: MSH:D000310][accessDate: 05-04-2011] Adrenal Gland Cancer Adrenal Gland Cancer[accessedResource: MSH:D000310][accessDate: 05-04-2011] Adrenal Gland Cancers Adrenal Gland Cancers[accessedResource: MSH:D000310][accessDate: 05-04-2011] Adrenal Gland Neoplasms Adrenal Gland Neoplasms[accessedResource: MSH:D000310][accessDate: 05-04-2011] Adrenal Neoplasm Adrenal Neoplasm[accessedResource: MSH:D000310][accessDate: 05-04-2011] Adrenal Neoplasms Adrenal Neoplasms[accessedResource: MSH:D000310][accessDate: 05-04-2011] Cancer of the Adrenal Gland Cancer of the Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011] Cancer, Adrenal Cancer, Adrenal Gland Cancer, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011] Cancer, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011] Cancers, Adrenal Cancers, Adrenal Gland Cancers, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011] Cancers, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011] MSH:D000310 NEOPL ADRENAL GLAND NEOPL ADRENAL GLAND[accessedResource: MSH:D000310][accessDate: 05-04-2011] Neoplasm, Adrenal Neoplasm, Adrenal Gland Neoplasm, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011] Neoplasm, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011] Neoplasms, Adrenal Neoplasms, Adrenal Gland Neoplasms, Adrenal Gland[accessedResource: MSH:D000310][accessDate: 05-04-2011] Neoplasms, Adrenal[accessedResource: MSH:D000310][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the ADRENAL GLANDS. Tumors or cancer of the ADRENAL GLANDS.[accessedResource: MSH:D000310][accessDate: 05-04-2011] meningeal neoplasm BENIGN MENINGEAL NEOPL BENIGN MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011] Benign Meningeal Neoplasm Benign Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011] Benign Meningeal Neoplasms Benign Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011] Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord. Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord.[accessedResource: MSH:D008577][accessDate: 05-04-2011] Cancer, Meningeal Cancer, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Cancers, Meningeal Cancers, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] INTRACRANIAL MENINGEAL NEOPL INTRACRANIAL MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011] Intracranial Meningeal Neoplasm Intracranial Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011] Intracranial Meningeal Neoplasms Intracranial Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011] LEPTOMENINGEAL NEOPL LEPTOMENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011] Leptomeningeal Neoplasm Leptomeningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011] Leptomeningeal Neoplasms Leptomeningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011] MALIGNANT MENINGEAL NEOPL MALIGNANT MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011] MENINGEAL NEOPL MENINGEAL NEOPL BENIGN MENINGEAL NEOPL BENIGN[accessedResource: MSH:D008577][accessDate: 05-04-2011] MENINGEAL NEOPL INTRACRANIAL MENINGEAL NEOPL INTRACRANIAL[accessedResource: MSH:D008577][accessDate: 05-04-2011] MENINGEAL NEOPL MALIGNANT MENINGEAL NEOPL MALIGNANT[accessedResource: MSH:D008577][accessDate: 05-04-2011] MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011] MSH:D008577 Malignant Meningeal Neoplasm Malignant Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011] Malignant Meningeal Neoplasms Malignant Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Cancer Meningeal Cancer[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Cancers Meningeal Cancers[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasm, Benign Meningeal Neoplasm, Benign[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasm, Intracranial Meningeal Neoplasm, Intracranial[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasm, Malignant Meningeal Neoplasm, Malignant[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasm, Spinal Meningeal Neoplasm, Spinal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasms Meningeal Neoplasms, Benign Meningeal Neoplasms, Benign[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasms, Intracranial Meningeal Neoplasms, Intracranial[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasms, Malignant Meningeal Neoplasms, Malignant[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasms, Spinal Meningeal Neoplasms, Spinal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Tumor Meningeal Tumor[accessedResource: MSH:D008577][accessDate: 05-04-2011] Meningeal Tumors Meningeal Tumors[accessedResource: MSH:D008577][accessDate: 05-04-2011] NEOPL LEPTOMENINGEAL NEOPL LEPTOMENINGEAL[accessedResource: MSH:D008577][accessDate: 05-04-2011] NEOPL MENINGEAL NEOPL MENINGEAL[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasm, Benign Meningeal Neoplasm, Benign Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasm, Intracranial Meningeal Neoplasm, Intracranial Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasm, Leptomeningeal Neoplasm, Leptomeningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasm, Malignant Meningeal Neoplasm, Malignant Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasm, Meningeal Neoplasm, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasm, Spinal Meningeal Neoplasm, Spinal Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasms, Benign Meningeal Neoplasms, Benign Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasms, Intracranial Meningeal Neoplasms, Intracranial Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasms, Leptomeningeal Neoplasms, Leptomeningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasms, Malignant Meningeal Neoplasms, Malignant Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasms, Meningeal Neoplasms, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Neoplasms, Spinal Meningeal Neoplasms, Spinal Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] SPINAL MENINGEAL NEOPL SPINAL MENINGEAL NEOPL[accessedResource: MSH:D008577][accessDate: 05-04-2011] Spinal Meningeal Neoplasm Spinal Meningeal Neoplasm[accessedResource: MSH:D008577][accessDate: 05-04-2011] Spinal Meningeal Neoplasms Spinal Meningeal Neoplasms[accessedResource: MSH:D008577][accessDate: 05-04-2011] Tomasz Adamusiak Tumor, Meningeal Tumor, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] Tumors, Meningeal Tumors, Meningeal[accessedResource: MSH:D008577][accessDate: 05-04-2011] developmental disability CHILD DEVELOPMENT DIS CHILD DEVELOPMENT DIS SPECIFIC CHILD DEVELOPMENT DIS SPECIFIC[accessedResource: MSH:D002658][accessDate: 05-04-2011] CHILD DEVELOPMENT DIS[accessedResource: MSH:D002658][accessDate: 05-04-2011] Child Development Deviation Child Development Deviation[accessedResource: MSH:D002658][accessDate: 05-04-2011] Child Development Deviations Child Development Deviations[accessedResource: MSH:D002658][accessDate: 05-04-2011] Child Development Disorder Child Development Disorder[accessedResource: MSH:D002658][accessDate: 05-04-2011] Child Development Disorders Child Development Disorders, Specific Child Development Disorders, Specific[accessedResource: MSH:D002658][accessDate: 05-04-2011] Child Development Disorders[accessedResource: MSH:D002658][accessDate: 05-04-2011] DEVELOPMENT DIS CHILD DEVELOPMENT DIS CHILD[accessedResource: MSH:D002658][accessDate: 05-04-2011] DEVELOPMENTAL DELAY DIS DEVELOPMENTAL DELAY DIS[accessedResource: MSH:D002658][accessDate: 05-04-2011] Development Deviation, Child Development Deviation, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011] Development Deviations, Child Development Deviations, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011] Development Disorder, Child Development Disorder, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011] Development Disorders, Child Development Disorders, Child[accessedResource: MSH:D002658][accessDate: 05-04-2011] Developmental Delay Disorder Developmental Delay Disorder[accessedResource: MSH:D002658][accessDate: 05-04-2011] Developmental Delay Disorders Developmental Delay Disorders[accessedResource: MSH:D002658][accessDate: 05-04-2011] Developmental Disabilities Developmental Disabilities[accessedResource: MSH:D002658][accessDate: 05-04-2011] Deviation, Child Development Deviation, Child Development[accessedResource: MSH:D002658][accessDate: 05-04-2011] Disabilities, Developmental Disabilities, Developmental[accessedResource: MSH:D002658][accessDate: 05-04-2011] Disability, Developmental Disability, Developmental[accessedResource: MSH:D002658][accessDate: 05-04-2011] Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed) Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)[accessedResource: MSH:D002658][accessDate: 05-04-2011] MSH:D002658 Tomasz Adamusiak respiratory system neoplasm MSH:D012142 Neoplasm, Respiratory Tract Neoplasm, Respiratory Tract[accessedResource: MSH:D012142][accessDate: 05-04-2011] Neoplasms, Respiratory Tract Neoplasms, Respiratory Tract[accessedResource: MSH:D012142][accessDate: 05-04-2011] RESPIRATORY TRACT NEOPL RESPIRATORY TRACT NEOPL[accessedResource: MSH:D012142][accessDate: 05-04-2011] Respiratory Tract Neoplasm Respiratory Tract Neoplasm[accessedResource: MSH:D012142][accessDate: 05-04-2011] Respiratory Tract Neoplasms Respiratory Tract Neoplasms[accessedResource: MSH:D012142][accessDate: 05-04-2011] Tomasz Adamusiak Tract Neoplasm, Respiratory Tract Neoplasm, Respiratory[accessedResource: MSH:D012142][accessDate: 05-04-2011] Tract Neoplasms, Respiratory Tract Neoplasms, Respiratory[accessedResource: MSH:D012142][accessDate: 05-04-2011] postmenopausal osteoporosis Bone Loss, Perimenopausal Bone Loss, Perimenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Bone Loss, Postmenopausal Bone Loss, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Bone Losses, Perimenopausal Bone Losses, Perimenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Bone Losses, Postmenopausal Bone Losses, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] MSH:D015663 Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency. Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency.[accessedResource: MSH:D015663][accessDate: 05-04-2011] OMIM:166710 Osteoporoses, Post-Menopausal Osteoporoses, Post-Menopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Osteoporoses, Postmenopausal Osteoporoses, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Osteoporosis, Post Menopausal Osteoporosis, Post Menopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Osteoporosis, Post-Menopausal Osteoporosis, Post-Menopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Osteoporosis, Postmenopausal Osteoporosis, Postmenopausal[accessedResource: MSH:D015663][accessDate: 05-04-2011] Perimenopausal Bone Loss Perimenopausal Bone Loss[accessedResource: MSH:D015663][accessDate: 05-04-2011] Perimenopausal Bone Losses Perimenopausal Bone Losses[accessedResource: MSH:D015663][accessDate: 05-04-2011] Post-Menopausal Osteoporoses Post-Menopausal Osteoporoses[accessedResource: MSH:D015663][accessDate: 05-04-2011] Post-Menopausal Osteoporosis Post-Menopausal Osteoporosis[accessedResource: MSH:D015663][accessDate: 05-04-2011] Postmenopausal Bone Loss Postmenopausal Bone Loss[accessedResource: MSH:D015663][accessDate: 05-04-2011] Postmenopausal Bone Losses Postmenopausal Bone Losses[accessedResource: MSH:D015663][accessDate: 05-04-2011] Postmenopausal Osteoporoses Postmenopausal Osteoporoses[accessedResource: MSH:D015663][accessDate: 05-04-2011] Tomasz Adamusiak intestinal polyp Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base. Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.[accessedResource: MSH:D007417][accessDate: 05-04-2011] Intestinal Polyps Intestinal Polyps[accessedResource: MSH:D007417][accessDate: 05-04-2011] MSH:D007417 Polyp, Intestinal Polyp, Intestinal[accessedResource: MSH:D007417][accessDate: 05-04-2011] Polyps, Intestinal Polyps, Intestinal[accessedResource: MSH:D007417][accessDate: 05-04-2011] Tomasz Adamusiak dissection Dissections Dissections[accessedResource: MSH:D004210][accessDate: 05-04-2011] MSH:D004210 The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures. The separation and isolation of tissues for surgical purposes, or for the analysis or study of their structures.[accessedResource: MSH:D004210][accessDate: 05-04-2011] Tomasz Adamusiak arthrogryposis AMYOPLASIA CONGEN AMYOPLASIA CONGEN[accessedResource: MSH:D001176][accessDate: 05-04-2011] ARTHROMYODYSPLASIA CONGEN ARTHROMYODYSPLASIA CONGEN[accessedResource: MSH:D001176][accessDate: 05-04-2011] Amyoplasia Congenita Amyoplasia Congenita[accessedResource: MSH:D001176][accessDate: 05-04-2011] Arthrogryposes Arthrogryposes[accessedResource: MSH:D001176][accessDate: 05-04-2011] Arthromyodysplasia, Congenital Arthromyodysplasia, Congenital[accessedResource: MSH:D001176][accessDate: 05-04-2011] Arthromyodysplasias, Congenital Arthromyodysplasias, Congenital[accessedResource: MSH:D001176][accessDate: 05-04-2011] CONGEN ARTHROMYODYSPLASIA CONGEN ARTHROMYODYSPLASIA[accessedResource: MSH:D001176][accessDate: 05-04-2011] Congenital Arthromyodysplasia Congenital Arthromyodysplasia[accessedResource: MSH:D001176][accessDate: 05-04-2011] Congenital Arthromyodysplasias Congenital Arthromyodysplasias[accessedResource: MSH:D001176][accessDate: 05-04-2011] Guerin Stern Syndrome Guerin Stern Syndrome[accessedResource: MSH:D001176][accessDate: 05-04-2011] Guerin-Stern Syndrome Guerin-Stern Syndrome[accessedResource: MSH:D001176][accessDate: 05-04-2011] MSH:D001176 Myodystrophia Fetalis Deformans Myodystrophia Fetalis Deformans[accessedResource: MSH:D001176][accessDate: 05-04-2011] OMIM:205000 Persistent flexure or contracture of a joint. (Dorland, 27th ed) Persistent flexure or contracture of a joint. (Dorland, 27th ed)[accessedResource: MSH:D001176][accessDate: 05-04-2011] Syndrome, Guerin-Stern Syndrome, Guerin-Stern[accessedResource: MSH:D001176][accessDate: 05-04-2011] Tomasz Adamusiak skeleton structure uterine neoplasm Cancer of Uterus Cancer of Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011] Cancer of the Uterus Cancer of the Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011] Cancer, Uterine Cancer, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011] Cancer, Uterus Cancer, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011] Cancers, Uterine Cancers, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011] Cancers, Uterus Cancers, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011] MSH:D014594 NEOPL UTERINE NEOPL UTERINE[accessedResource: MSH:D014594][accessDate: 05-04-2011] NEOPL UTERUS NEOPL UTERUS[accessedResource: MSH:D014594][accessDate: 05-04-2011] Neoplasm, Uterine Neoplasm, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011] Neoplasm, Uterus Neoplasm, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011] Neoplasms, Uterine Neoplasms, Uterine[accessedResource: MSH:D014594][accessDate: 05-04-2011] Neoplasms, Uterus Neoplasms, Uterus[accessedResource: MSH:D014594][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the UTERUS. Tumors or cancer of the UTERUS.[accessedResource: MSH:D014594][accessDate: 05-04-2011] UTERINE NEOPL UTERINE NEOPL[accessedResource: MSH:D014594][accessDate: 05-04-2011] UTERUS NEOPL UTERUS NEOPL[accessedResource: MSH:D014594][accessDate: 05-04-2011] Uterine Cancer Uterine Cancer[accessedResource: MSH:D014594][accessDate: 05-04-2011] Uterine Cancers Uterine Cancers[accessedResource: MSH:D014594][accessDate: 05-04-2011] Uterine Neoplasms Uterine Neoplasms[accessedResource: MSH:D014594][accessDate: 05-04-2011] Uterus Cancer Uterus Cancer[accessedResource: MSH:D014594][accessDate: 05-04-2011] Uterus Cancers Uterus Cancers[accessedResource: MSH:D014594][accessDate: 05-04-2011] Uterus Neoplasm Uterus Neoplasm[accessedResource: MSH:D014594][accessDate: 05-04-2011] Uterus Neoplasms Uterus Neoplasms[accessedResource: MSH:D014594][accessDate: 05-04-2011] pancreatic neoplasm MSH:D010190 NEOPL PANCREATIC NEOPL PANCREATIC[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasm located in the pancreas. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA). Neoplasm, Pancreas Neoplasm, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasm, Pancreatic Neoplasm, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasms, Pancreas Neoplasms, Pancreas[accessedResource: MSH:D010190][accessDate: 05-04-2011] Neoplasms, Pancreatic Neoplasms, Pancreatic[accessedResource: MSH:D010190][accessDate: 05-04-2011] OMIM:260350 PANCREAS NEOPL PANCREAS NEOPL[accessedResource: MSH:D010190][accessDate: 05-04-2011] PANCREATIC NEOPL PANCREATIC NEOPL[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreas Neoplasm Pancreas Neoplasm[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreas Neoplasms Pancreas Neoplasms[accessedResource: MSH:D010190][accessDate: 05-04-2011] Pancreatic Neoplasms Pancreatic Neoplasms[accessedResource: MSH:D010190][accessDate: 05-04-2011] Tomasz Adamusiak pancreatic cancer true pancreactic component dementia Amentia Amentia[accessedResource: MSH:D003704][accessDate: 05-04-2011] Amentias Amentias[accessedResource: MSH:D003704][accessDate: 05-04-2011] An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness. An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.[accessedResource: MSH:D003704][accessDate: 05-04-2011] Dementia, Familial Dementia, Familial[accessedResource: MSH:D003704][accessDate: 05-04-2011] Dementias Dementias, Familial Dementias, Familial[accessedResource: MSH:D003704][accessDate: 05-04-2011] Dementias, Senile Paranoid Dementias, Senile Paranoid[accessedResource: MSH:D003704][accessDate: 05-04-2011] Dementias[accessedResource: MSH:D003704][accessDate: 05-04-2011] Familial Dementia Familial Dementia[accessedResource: MSH:D003704][accessDate: 05-04-2011] Familial Dementias Familial Dementias[accessedResource: MSH:D003704][accessDate: 05-04-2011] MSH:D003704 Paranoid Dementia, Senile Paranoid Dementia, Senile[accessedResource: MSH:D003704][accessDate: 05-04-2011] Paranoid Dementias, Senile Paranoid Dementias, Senile[accessedResource: MSH:D003704][accessDate: 05-04-2011] Senile Paranoid Dementia Senile Paranoid Dementia[accessedResource: MSH:D003704][accessDate: 05-04-2011] Senile Paranoid Dementias Senile Paranoid Dementias[accessedResource: MSH:D003704][accessDate: 05-04-2011] Tomasz Adamusiak urogenital neoplasm Cancer, Genito-urinary Cancer, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Cancer, Genitourinary Cancer, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Cancer, Urogenital Cancer, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011] Cancers, Genito-urinary Cancers, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Cancers, Genitourinary Cancers, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Cancers, Urogenital Cancers, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011] GENITO URINARY NEOPL GENITO URINARY NEOPL[accessedResource: MSH:D014565][accessDate: 05-04-2011] GENITOURINARY NEOPL GENITOURINARY NEOPL[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genito urinary Cancer Genito urinary Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genito-urinary Cancer Genito-urinary Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genito-urinary Cancers Genito-urinary Cancers[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genito-urinary Neoplasm Genito-urinary Neoplasm[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genito-urinary Neoplasms Genito-urinary Neoplasms[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genitourinary Cancer Genitourinary Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genitourinary Cancers Genitourinary Cancers[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genitourinary Neoplasm Genitourinary Neoplasm[accessedResource: MSH:D014565][accessDate: 05-04-2011] Genitourinary Neoplasms Genitourinary Neoplasms[accessedResource: MSH:D014565][accessDate: 05-04-2011] MSH:D014565 NEOPL GENITOURINARY NEOPL GENITOURINARY[accessedResource: MSH:D014565][accessDate: 05-04-2011] NEOPL UROGENITAL NEOPL UROGENITAL[accessedResource: MSH:D014565][accessDate: 05-04-2011] Neoplasm, Genito-urinary Neoplasm, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Neoplasm, Genitourinary Neoplasm, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Neoplasm, Urogenital Neoplasm, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011] Neoplasms, Genito-urinary Neoplasms, Genito-urinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Neoplasms, Genitourinary Neoplasms, Genitourinary[accessedResource: MSH:D014565][accessDate: 05-04-2011] Neoplasms, Urogenital Neoplasms, Urogenital[accessedResource: MSH:D014565][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female. Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female.[accessedResource: MSH:D014565][accessDate: 05-04-2011] UROGENITAL NEOPL UROGENITAL NEOPL[accessedResource: MSH:D014565][accessDate: 05-04-2011] Urogenital Cancer Urogenital Cancer[accessedResource: MSH:D014565][accessDate: 05-04-2011] Urogenital Cancers Urogenital Cancers[accessedResource: MSH:D014565][accessDate: 05-04-2011] Urogenital Neoplasms Urogenital Neoplasms[accessedResource: MSH:D014565][accessDate: 05-04-2011] obsolete_genitourinary system Tomasz Adamusiak urogenital system Use http://purl.obolibrary.org/obo/UBERON_0004122 label: genitourinary system 2.38 true kidney neoplasm Cancer of Kidney Cancer of Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011] Cancer of the Kidney Cancer of the Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011] Cancer, Kidney Cancer, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011] Cancer, Renal Cancer, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011] Cancers, Kidney Cancers, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011] Cancers, Renal Cancers, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011] KIDNEY NEOPL KIDNEY NEOPL[accessedResource: MSH:D007680][accessDate: 05-04-2011] Kidney Cancer Kidney Cancer[accessedResource: MSH:D007680][accessDate: 05-04-2011] Kidney Cancers Kidney Cancers[accessedResource: MSH:D007680][accessDate: 05-04-2011] Kidney Neoplasms Kidney Neoplasms[accessedResource: MSH:D007680][accessDate: 05-04-2011] MSH:D007680 NEOPL KIDNEY NEOPL KIDNEY[accessedResource: MSH:D007680][accessDate: 05-04-2011] Neoplasm, Kidney Neoplasm, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011] Neoplasm, Renal Neoplasm, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011] Neoplasms, Kidney Neoplasms, Kidney[accessedResource: MSH:D007680][accessDate: 05-04-2011] Neoplasms, Renal Neoplasms, Renal[accessedResource: MSH:D007680][accessDate: 05-04-2011] RENAL NEOPL RENAL NEOPL[accessedResource: MSH:D007680][accessDate: 05-04-2011] Renal Cancer Renal Cancer[accessedResource: MSH:D007680][accessDate: 05-04-2011] Renal Cancers Renal Cancers[accessedResource: MSH:D007680][accessDate: 05-04-2011] Renal Neoplasm Renal Neoplasm[accessedResource: MSH:D007680][accessDate: 05-04-2011] Renal Neoplasms Renal Neoplasms[accessedResource: MSH:D007680][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancers of the KIDNEY. Tumors or cancers of the KIDNEY.[accessedResource: MSH:D007680][accessDate: 05-04-2011] paranasal sinus neoplasm Cancer of Paranasal Sinus Cancer of Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011] Cancer, Paranasal Sinus Cancer, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011] Cancers, Paranasal Sinus Cancers, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011] MSH:D010255 NEOPL PARANASAL SINUS NEOPL PARANASAL SINUS[accessedResource: MSH:D010255][accessDate: 05-04-2011] Neoplasm, Paranasal Sinus Neoplasm, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011] Neoplasms, Paranasal Sinus Neoplasms, Paranasal Sinus[accessedResource: MSH:D010255][accessDate: 05-04-2011] PARANASAL SINUS NEOPL PARANASAL SINUS NEOPL[accessedResource: MSH:D010255][accessDate: 05-04-2011] Paranasal Sinus Cancer Paranasal Sinus Cancer[accessedResource: MSH:D010255][accessDate: 05-04-2011] Paranasal Sinus Cancers Paranasal Sinus Cancers[accessedResource: MSH:D010255][accessDate: 05-04-2011] Paranasal Sinus Neoplasms Paranasal Sinus Neoplasms[accessedResource: MSH:D010255][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the PARANASAL SINUSES. Tumors or cancer of the PARANASAL SINUSES.[accessedResource: MSH:D010255][accessDate: 05-04-2011] rhabdomyolysis MSH:D012206 Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. Necrosis or disintegration of skeletal muscle often followed by myoglobinuria.[accessedResource: MSH:D012206][accessDate: 05-04-2011] Rhabdomyolyses Rhabdomyolyses[accessedResource: MSH:D012206][accessDate: 05-04-2011] Tomasz Adamusiak mouth neoplasm Cancer of Mouth Cancer of Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancer of the Mouth Cancer of the Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancer, Mouth Cancer, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancer, Oral Cancer, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancers, Mouth Cancers, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancers, Oral Cancers, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] MOUTH NEOPL MOUTH NEOPL[accessedResource: MSH:D009062][accessDate: 05-04-2011] MSH:D009062 Mouth Cancer Mouth Cancer[accessedResource: MSH:D009062][accessDate: 05-04-2011] Mouth Cancers Mouth Cancers[accessedResource: MSH:D009062][accessDate: 05-04-2011] Mouth Neoplasms Mouth Neoplasms[accessedResource: MSH:D009062][accessDate: 05-04-2011] NEOPL MOUTH NEOPL MOUTH[accessedResource: MSH:D009062][accessDate: 05-04-2011] NEOPL ORAL NEOPL ORAL[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasm, Mouth Neoplasm, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasm, Oral Neoplasm, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasms, Mouth Neoplasms, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasms, Oral Neoplasms, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] ORAL NEOPL ORAL NEOPL[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Cancer Oral Cancer[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Cancers Oral Cancers[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Neoplasm Oral Neoplasm[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Neoplasms Oral Neoplasms[accessedResource: MSH:D009062][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the MOUTH. Tumors or cancer of the MOUTH.[accessedResource: MSH:D009062][accessDate: 05-04-2011] breast neoplasm Abnormal growth located in the breast or mammory gland. BREAST NEOPL BREAST NEOPL[accessedResource: MSH:D001943][accessDate: 05-04-2011] Breast Neoplasms Breast Neoplasms[accessedResource: MSH:D001943][accessDate: 05-04-2011] Breast Tumor Breast Tumor[accessedResource: MSH:D001943][accessDate: 05-04-2011] Breast Tumors Breast Tumors[accessedResource: MSH:D001943][accessDate: 05-04-2011] Human Mammary Neoplasm Human Mammary Neoplasm[accessedResource: MSH:D001943][accessDate: 05-04-2011] Human Mammary Neoplasms Human Mammary Neoplasms[accessedResource: MSH:D001943][accessDate: 05-04-2011] MSH:D001943 Mammary Neoplasm, Human Mammary Neoplasm, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011] Mammary Neoplasms, Human Mammary Neoplasms, Human[accessedResource: MSH:D001943][accessDate: 05-04-2011] NEOPL BREAST NEOPL BREAST[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasm, Breast Neoplasm, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasm, Human Mammary Neoplasm, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasms, Breast Neoplasms, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Neoplasms, Human Mammary Neoplasms, Human Mammary[accessedResource: MSH:D001943][accessDate: 05-04-2011] OMIM:114480 Tomasz Adamusiak Tumor, Breast Tumor, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] Tumors, Breast Tumors, Breast[accessedResource: MSH:D001943][accessDate: 05-04-2011] true brain aneurysm Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841) Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Anterior Cerebral Artery Aneurysm, Anterior Cerebral Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Anterior Communicating Artery Aneurysm, Anterior Communicating Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Basilar Artery Aneurysm, Basilar Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Berry Aneurysm, Berry[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Brain Aneurysm, Brain[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Cerebral Aneurysm, Cerebral[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Giant Intracranial Aneurysm, Giant Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Intracranial Aneurysm, Intracranial Mycotic Aneurysm, Intracranial Mycotic[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Middle Cerebral Artery Aneurysm, Middle Cerebral Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Posterior Cerebral Artery Aneurysm, Posterior Cerebral Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysm, Posterior Communicating Artery Aneurysm, Posterior Communicating Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysms, Basilar Artery Aneurysms, Basilar Artery[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysms, Berry Aneurysms, Berry[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysms, Brain Aneurysms, Brain[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysms, Cerebral Aneurysms, Cerebral[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysms, Giant Intracranial Aneurysms, Giant Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysms, Intracranial Aneurysms, Intracranial Mycotic Aneurysms, Intracranial Mycotic[accessedResource: MSH:D002532][accessDate: 05-04-2011] Aneurysms, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011] Anterior Cerebral Artery Aneurysm Anterior Cerebral Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Anterior Communicating Artery Aneurysm Anterior Communicating Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Artery Aneurysm, Basilar Artery Aneurysm, Basilar[accessedResource: MSH:D002532][accessDate: 05-04-2011] Artery Aneurysms, Basilar Artery Aneurysms, Basilar[accessedResource: MSH:D002532][accessDate: 05-04-2011] Basilar Artery Aneurysm Basilar Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Basilar Artery Aneurysms Basilar Artery Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011] Berry Aneurysm Berry Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Berry Aneurysms Berry Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011] Brain Aneurysms Brain Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011] Cerebral Aneurysm Cerebral Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Cerebral Aneurysms Cerebral Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011] Giant Intracranial Aneurysm Giant Intracranial Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Giant Intracranial Aneurysms Giant Intracranial Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011] Intracranial Aneurysm Intracranial Aneurysm, Giant Intracranial Aneurysm, Giant[accessedResource: MSH:D002532][accessDate: 05-04-2011] Intracranial Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Intracranial Aneurysms Intracranial Aneurysms, Giant Intracranial Aneurysms, Giant[accessedResource: MSH:D002532][accessDate: 05-04-2011] Intracranial Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011] Intracranial Mycotic Aneurysm Intracranial Mycotic Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Intracranial Mycotic Aneurysms Intracranial Mycotic Aneurysms[accessedResource: MSH:D002532][accessDate: 05-04-2011] MSH:D002532 Middle Cerebral Artery Aneurysm Middle Cerebral Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Mycotic Aneurysm, Intracranial Mycotic Aneurysm, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011] Mycotic Aneurysms, Intracranial Mycotic Aneurysms, Intracranial[accessedResource: MSH:D002532][accessDate: 05-04-2011] Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation. Outpouching of BASILAR ARTERY at the base of the skull. The basilar artery is the most important artery in the posterior cerebral circulation.[accessedResource: MSH:D002532][accessDate: 05-04-2011] Posterior Cerebral Artery Aneurysm Posterior Cerebral Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Posterior Communicating Artery Aneurysm Posterior Communicating Artery Aneurysm[accessedResource: MSH:D002532][accessDate: 05-04-2011] Tomasz Adamusiak true tongue neoplasm Cancer of Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancer of Tongue Cancer of Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011] Cancer of the Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancer of the Tongue Cancer of the Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011] Cancer, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancer, Oral Cancer, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancer, Tongue Cancer, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011] Cancers, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancers, Oral Cancers, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] Cancers, Tongue Cancers, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011] MOUTH NEOPL[accessedResource: MSH:D009062][accessDate: 05-04-2011] MSH:D009062 MSH:D014062 Mouth Cancer[accessedResource: MSH:D009062][accessDate: 05-04-2011] Mouth Cancers[accessedResource: MSH:D009062][accessDate: 05-04-2011] Mouth Neoplasm[accessedResource: MSH:D009062][accessDate: 05-04-2011] Mouth Neoplasms[accessedResource: MSH:D009062][accessDate: 05-04-2011] NEOPL MOUTH[accessedResource: MSH:D009062][accessDate: 05-04-2011] NEOPL ORAL NEOPL ORAL[accessedResource: MSH:D009062][accessDate: 05-04-2011] NEOPL TONGUE NEOPL TONGUE[accessedResource: MSH:D014062][accessDate: 05-04-2011] Neoplasm, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasm, Oral Neoplasm, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasm, Tongue Neoplasm, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011] Neoplasms, Mouth[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasms, Oral Neoplasms, Oral[accessedResource: MSH:D009062][accessDate: 05-04-2011] Neoplasms, Tongue Neoplasms, Tongue[accessedResource: MSH:D014062][accessDate: 05-04-2011] ORAL NEOPL ORAL NEOPL[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Cancer Oral Cancer[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Cancers Oral Cancers[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Neoplasm Oral Neoplasm[accessedResource: MSH:D009062][accessDate: 05-04-2011] Oral Neoplasms Oral Neoplasms[accessedResource: MSH:D009062][accessDate: 05-04-2011] TONGUE NEOPL TONGUE NEOPL[accessedResource: MSH:D014062][accessDate: 05-04-2011] Tomasz Adamusiak Tongue Cancer Tongue Cancer[accessedResource: MSH:D014062][accessDate: 05-04-2011] Tongue Cancers Tongue Cancers[accessedResource: MSH:D014062][accessDate: 05-04-2011] Tongue Neoplasms Tongue Neoplasms[accessedResource: MSH:D014062][accessDate: 05-04-2011] Tumors or cancer of the MOUTH. Tumors or cancer of the MOUTH.[accessedResource: MSH:D009062][accessDate: 05-04-2011] Tumors or cancer of the TONGUE. Tumors or cancer of the TONGUE.[accessedResource: MSH:D014062][accessDate: 05-04-2011] colitis Colitides Colitides[accessedResource: MSH:D003092][accessDate: 05-04-2011] Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER. Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER.[accessedResource: MSH:D003092][accessDate: 05-04-2011] MSH:D003092 Tomasz Adamusiak parotid neoplasm Cancer of Parotid Cancer of Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011] Cancer of the Parotid Cancer of the Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011] Cancer, Parotid Cancer, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011] Cancers, Parotid Cancers, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011] MSH:D010307 NEOPL PAROTID NEOPL PAROTID[accessedResource: MSH:D010307][accessDate: 05-04-2011] Neoplasm, Parotid Neoplasm, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011] Neoplasms, Parotid Neoplasms, Parotid[accessedResource: MSH:D010307][accessDate: 05-04-2011] PAROTID NEOPL PAROTID NEOPL[accessedResource: MSH:D010307][accessDate: 05-04-2011] Parotid Cancer Parotid Cancer[accessedResource: MSH:D010307][accessDate: 05-04-2011] Parotid Cancers Parotid Cancers[accessedResource: MSH:D010307][accessDate: 05-04-2011] Parotid Neoplasms Parotid Neoplasms[accessedResource: MSH:D010307][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the PAROTID GLAND. Tumors or cancer of the PAROTID GLAND.[accessedResource: MSH:D010307][accessDate: 05-04-2011] flatfoot A condition in which one or more of the arches of the foot have flattened out. A condition in which one or more of the arches of the foot have flattened out.[accessedResource: MSH:D005413][accessDate: 05-04-2011] Feet, Flat Feet, Flat[accessedResource: MSH:D005413][accessDate: 05-04-2011] Flat Feet[accessedResource: MSH:D005413][accessDate: 05-04-2011] Flat Foot Flat Foot[accessedResource: MSH:D005413][accessDate: 05-04-2011] Flatfeet Flatfeet[accessedResource: MSH:D005413][accessDate: 05-04-2011] Foot, Flat Foot, Flat[accessedResource: MSH:D005413][accessDate: 05-04-2011] MSH:D005413 Pes Planus Pes Planus[accessedResource: MSH:D005413][accessDate: 05-04-2011] Tomasz Adamusiak flat feet peripheral vascular disease Angiopathies, Peripheral Angiopathies, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011] Angiopathy, Peripheral Angiopathy, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011] DIS PERIPHERAL VASCULAR DIS PERIPHERAL VASCULAR[accessedResource: MSH:D016491][accessDate: 05-04-2011] Disease, Peripheral Vascular Disease, Peripheral Vascular[accessedResource: MSH:D016491][accessDate: 05-04-2011] Diseases, Peripheral Vascular Diseases, Peripheral Vascular[accessedResource: MSH:D016491][accessDate: 05-04-2011] MSH:D016491 PERIPHERAL VASCULAR DIS PERIPHERAL VASCULAR DIS[accessedResource: MSH:D016491][accessDate: 05-04-2011] Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART. Pathological processes involving any one of the BLOOD VESSELS in the vasculature outside the HEART.[accessedResource: MSH:D016491][accessDate: 05-04-2011] Peripheral Angiopathies Peripheral Angiopathies[accessedResource: MSH:D016491][accessDate: 05-04-2011] Peripheral Angiopathy Peripheral Angiopathy[accessedResource: MSH:D016491][accessDate: 05-04-2011] Peripheral Vascular Diseases Peripheral Vascular Diseases[accessedResource: MSH:D016491][accessDate: 05-04-2011] Tomasz Adamusiak VASCULAR DIS PERIPHERAL VASCULAR DIS PERIPHERAL[accessedResource: MSH:D016491][accessDate: 05-04-2011] Vascular Disease, Peripheral Vascular Disease, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011] Vascular Diseases, Peripheral Vascular Diseases, Peripheral[accessedResource: MSH:D016491][accessDate: 05-04-2011] intermittent vascular claudication A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE. A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE.[accessedResource: MSH:D007383][accessDate: 05-04-2011] Claudication, Intermittent Claudication, Intermittent[accessedResource: MSH:D007383][accessDate: 05-04-2011] Intermittent Claudication Intermittent Claudication[accessedResource: MSH:D007383][accessDate: 05-04-2011] MSH:D007383 Tomasz Adamusiak sleep apnea Apnea Syndrome, Sleep Apnea Syndrome, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011] Apnea Syndromes, Sleep Apnea Syndromes, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011] Apnea, Sleep Apnea, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011] Apneas, Sleep Apneas, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011] Breathing, Sleep-Disordered Breathing, Sleep-Disordered[accessedResource: MSH:D012891][accessDate: 05-04-2011] Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types. Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.[accessedResource: MSH:D012891][accessDate: 05-04-2011] Hypersomnia with Periodic Respiration Hypersomnia with Periodic Respiration[accessedResource: MSH:D012891][accessDate: 05-04-2011] Hypopnea, Sleep Hypopnea, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011] Hypopneas, Sleep Hypopneas, Sleep[accessedResource: MSH:D012891][accessDate: 05-04-2011] MSH:D012891 Mixed Central and Obstructive Sleep Apnea Mixed Central and Obstructive Sleep Apnea[accessedResource: MSH:D012891][accessDate: 05-04-2011] Mixed Sleep Apnea Mixed Sleep Apnea[accessedResource: MSH:D012891][accessDate: 05-04-2011] Mixed Sleep Apneas Mixed Sleep Apneas[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Apnea Syndrome Sleep Apnea Syndrome[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Apnea Syndromes Sleep Apnea Syndromes[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Apnea, Mixed Sleep Apnea, Mixed Central and Obstructive Sleep Apnea, Mixed Central and Obstructive[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Apnea, Mixed[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Apneas Sleep Apneas, Mixed Sleep Apneas, Mixed[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Apneas[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Disordered Breathing Sleep Disordered Breathing[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Hypopnea Sleep Hypopnea[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep Hypopneas Sleep Hypopneas[accessedResource: MSH:D012891][accessDate: 05-04-2011] Sleep-Disordered Breathing Sleep-Disordered Breathing[accessedResource: MSH:D012891][accessDate: 05-04-2011] Tomasz Adamusiak urethritis Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both. Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both.[accessedResource: MSH:D014526][accessDate: 05-04-2011] MSH:D014526 Tomasz Adamusiak Urethritides Urethritides[accessedResource: MSH:D014526][accessDate: 05-04-2011] obsolete_aortic valve Aortic Valves Aortic Valves[accessedResource: MSH:D001021][accessDate: 05-04-2011] MSH:D001021 The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle. The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle.[accessedResource: MSH:D001021][accessDate: 05-04-2011] Tomasz Adamusiak Valve, Aortic Valve, Aortic[accessedResource: MSH:D001021][accessDate: 05-04-2011] Valves, Aortic Valves, Aortic[accessedResource: MSH:D001021][accessDate: 05-04-2011] 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002137 label: aortic valve appendiceal neoplasm APPENDICEAL NEOPL APPENDICEAL NEOPL[accessedResource: MSH:D001063][accessDate: 05-04-2011] Appendiceal Cancer Appendiceal Cancer[accessedResource: MSH:D001063][accessDate: 05-04-2011] Appendiceal Neoplasms Appendiceal Neoplasms[accessedResource: MSH:D001063][accessDate: 05-04-2011] Appendix Cancer Appendix Cancer[accessedResource: MSH:D001063][accessDate: 05-04-2011] Cancer of Appendix Cancer of Appendix[accessedResource: MSH:D001063][accessDate: 05-04-2011] Cancer of the Appendix Cancer of the Appendix[accessedResource: MSH:D001063][accessDate: 05-04-2011] Cancer, Appendiceal Cancer, Appendiceal[accessedResource: MSH:D001063][accessDate: 05-04-2011] Cancer, Appendix Cancer, Appendix[accessedResource: MSH:D001063][accessDate: 05-04-2011] MSH:D001063 NEOPL APPENDICEAL NEOPL APPENDICEAL[accessedResource: MSH:D001063][accessDate: 05-04-2011] Neoplasm, Appendiceal Neoplasm, Appendiceal[accessedResource: MSH:D001063][accessDate: 05-04-2011] Neoplasms, Appendiceal Neoplasms, Appendiceal[accessedResource: MSH:D001063][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the APPENDIX. Tumors or cancer of the APPENDIX.[accessedResource: MSH:D001063][accessDate: 05-04-2011] hysterectomy Excision of the uterus. Excision of the uterus.[accessedResource: MSH:D007044][accessDate: 05-04-2011] Hysterectomies Hysterectomies[accessedResource: MSH:D007044][accessDate: 05-04-2011] MSH:D007044 Tomasz Adamusiak osteoporosis AGE RELAT OSTEOPOROSIS AGE RELAT OSTEOPOROSIS[accessedResource: MSH:D010024][accessDate: 05-04-2011] Age Related Osteoporosis Age Related Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011] Age-Related Bone Loss Age-Related Bone Loss[accessedResource: MSH:D010024][accessDate: 05-04-2011] Age-Related Bone Losses Age-Related Bone Losses[accessedResource: MSH:D010024][accessDate: 05-04-2011] Age-Related Osteoporoses Age-Related Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011] Age-Related Osteoporosis Age-Related Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011] BONE LOSS AGE RELAT BONE LOSS AGE RELAT[accessedResource: MSH:D010024][accessDate: 05-04-2011] Bone Loss, Age Related Bone Loss, Age Related[accessedResource: MSH:D010024][accessDate: 05-04-2011] Bone Loss, Age-Related Bone Loss, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011] Bone Losses, Age-Related Bone Losses, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011] MSH:D010024 OMIM:166710 OSTEOPOROSIS AGE RELAT OSTEOPOROSIS AGE RELAT[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporoses Osteoporoses, Age-Related Osteoporoses, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporoses, Senile Osteoporoses, Senile[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporosis, Age Related Osteoporosis, Age Related[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporosis, Age-Related Osteoporosis, Age-Related[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporosis, Post Traumatic Osteoporosis, Post Traumatic[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporosis, Post-Traumatic Osteoporosis, Post-Traumatic[accessedResource: MSH:D010024][accessDate: 05-04-2011] Osteoporosis, Senile Osteoporosis, Senile[accessedResource: MSH:D010024][accessDate: 05-04-2011] Post-Traumatic Osteoporoses Post-Traumatic Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011] Post-Traumatic Osteoporosis Post-Traumatic Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011] Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis. Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.[accessedResource: MSH:D010024][accessDate: 05-04-2011] Senile Osteoporoses Senile Osteoporoses[accessedResource: MSH:D010024][accessDate: 05-04-2011] Senile Osteoporosis Senile Osteoporosis[accessedResource: MSH:D010024][accessDate: 05-04-2011] Tomasz Adamusiak true brain ischemia Brain Ischemias Brain Ischemias[accessedResource: MSH:D002545][accessDate: 05-04-2011] Cerebral Ischemia Cerebral Ischemia[accessedResource: MSH:D002545][accessDate: 05-04-2011] Cerebral Ischemias Cerebral Ischemias[accessedResource: MSH:D002545][accessDate: 05-04-2011] ENCEPH ISCHEMIC ENCEPH ISCHEMIC[accessedResource: MSH:D002545][accessDate: 05-04-2011] Encephalopathy, Ischemic Encephalopathy, Ischemic[accessedResource: MSH:D002545][accessDate: 05-04-2011] ISCHEMIC ENCEPH ISCHEMIC ENCEPH[accessedResource: MSH:D002545][accessDate: 05-04-2011] Ischemia, Brain Ischemia, Brain[accessedResource: MSH:D002545][accessDate: 05-04-2011] Ischemia, Cerebral Ischemia, Cerebral[accessedResource: MSH:D002545][accessDate: 05-04-2011] Ischemias, Cerebral Ischemias, Cerebral[accessedResource: MSH:D002545][accessDate: 05-04-2011] Ischemic Encephalopathies Ischemic Encephalopathies[accessedResource: MSH:D002545][accessDate: 05-04-2011] Ischemic Encephalopathy Ischemic Encephalopathy[accessedResource: MSH:D002545][accessDate: 05-04-2011] Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION. Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION.[accessedResource: MSH:D002545][accessDate: 05-04-2011] MSH:D002545 Tomasz Adamusiak chronic kidney disease Chronic Kidney Failure[accessedResource: MSH:D007676][accessDate: 05-04-2011] Chronic Kidney Insufficiencies Chronic Kidney Insufficiencies[accessedResource: MSH:D051436][accessDate: 05-04-2011] Chronic Kidney Insufficiency Chronic Kidney Insufficiency[accessedResource: MSH:D051436][accessDate: 05-04-2011] Chronic Renal Failure Chronic Renal Failure[accessedResource: MSH:D007676][accessDate: 05-04-2011] Chronic Renal Insufficiencies Chronic Renal Insufficiencies[accessedResource: MSH:D051436][accessDate: 05-04-2011] Chronic Renal Insufficiency[accessedResource: MSH:D051436][accessDate: 05-04-2011] Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002) Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)[accessedResource: MSH:D051436][accessDate: 05-04-2011] Disease, End-Stage Kidney Disease, End-Stage Kidney[accessedResource: MSH:D007676][accessDate: 05-04-2011] Disease, End-Stage Renal Disease, End-Stage Renal[accessedResource: MSH:D007676][accessDate: 05-04-2011] END STAGE KIDNEY DIS END STAGE KIDNEY DIS[accessedResource: MSH:D007676][accessDate: 05-04-2011] END STAGE RENAL DIS END STAGE RENAL DIS[accessedResource: MSH:D007676][accessDate: 05-04-2011] ESRD ESRD[accessedResource: MSH:D007676][accessDate: 05-04-2011] End Stage Kidney Disease End Stage Kidney Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011] End Stage Renal Disease End Stage Renal Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011] End-Stage Kidney Disease End-Stage Kidney Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011] End-Stage Renal Disease End-Stage Renal Disease[accessedResource: MSH:D007676][accessDate: 05-04-2011] End-Stage Renal Failure End-Stage Renal Failure[accessedResource: MSH:D007676][accessDate: 05-04-2011] Kidney Disease, End-Stage Kidney Disease, End-Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011] Kidney Failure, Chronic Kidney Failure, Chronic[accessedResource: MSH:D007676][accessDate: 05-04-2011] Kidney Insufficiencies, Chronic Kidney Insufficiencies, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011] Kidney Insufficiency, Chronic Kidney Insufficiency, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011] MSH:D007676 MSH:D051436 RENAL DIS END STAGE RENAL DIS END STAGE[accessedResource: MSH:D007676][accessDate: 05-04-2011] Renal Disease, End Stage Renal Disease, End Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011] Renal Disease, End-Stage Renal Disease, End-Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011] Renal Failure, Chronic Renal Failure, Chronic[accessedResource: MSH:D007676][accessDate: 05-04-2011] Renal Failure, End Stage Renal Failure, End Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011] Renal Failure, End-Stage Renal Failure, End-Stage[accessedResource: MSH:D007676][accessDate: 05-04-2011] Renal Insufficiencies, Chronic Renal Insufficiencies, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011] Renal Insufficiency, Chronic Renal Insufficiency, Chronic[accessedResource: MSH:D051436][accessDate: 05-04-2011] The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION. The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.[accessedResource: MSH:D007676][accessDate: 05-04-2011] Tomasz Adamusiak chronic kidney failure chronic renal insufficiency true multiple sclerosis An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903) An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)[accessedResource: MSH:D009103][accessDate: 05-04-2011] Disseminated Sclerosis Disseminated Sclerosis[accessedResource: MSH:D009103][accessDate: 05-04-2011] MS MS (Multiple Sclerosis) MS (Multiple Sclerosis)[accessedResource: MSH:D009103][accessDate: 05-04-2011] MSH:D009103 MS[accessedResource: MSH:D009103][accessDate: 05-04-2011] MULTIPLE SCLEROSIS ACUTE FULMINATING MULTIPLE SCLEROSIS ACUTE FULMINATING[accessedResource: MSH:D009103][accessDate: 05-04-2011] Multiple Sclerosis, Acute Fulminating Multiple Sclerosis, Acute Fulminating[accessedResource: MSH:D009103][accessDate: 05-04-2011] OMIM:126200 Sclerosis, Disseminated Sclerosis, Disseminated[accessedResource: MSH:D009103][accessDate: 05-04-2011] Sclerosis, Multiple Sclerosis, Multiple[accessedResource: MSH:D009103][accessDate: 05-04-2011] Tomasz Adamusiak true obsolete_metacarpal bone Bones, Metacarpal Bones, Metacarpal[accessedResource: MSH:D050279][accessDate: 05-04-2011] MSH:D050279 Metacarpal Bones Metacarpal Bones[accessedResource: MSH:D050279][accessDate: 05-04-2011] Metacarpals Metacarpals[accessedResource: MSH:D050279][accessDate: 05-04-2011] The five cylindrical bones of the METACARPUS, articulating with the CARPAL BONES proximally and the PHALANGES OF FINGERS distally. The five cylindrical bones of the METACARPUS, articulating with the CARPAL BONES proximally and the PHALANGES OF FINGERS distally.[accessedResource: MSH:D050279][accessDate: 05-04-2011] Tomasz Adamusiak 2.38 true Use http://purl.obolibrary.org/obo/UBERON_0002374 label: metacarpal bone thrombophlebitis Dolens, Phlegmasia Alba Dolens, Phlegmasia Alba[accessedResource: MSH:D013924][accessDate: 05-04-2011] Inflammation of a vein associated with a blood clot (THROMBUS). Inflammation of a vein associated with a blood clot (THROMBUS).[accessedResource: MSH:D013924][accessDate: 05-04-2011] Inflammation that is characterized by swollen, pale, and painful limb. It is usually caused by DEEP VEIN THROMBOSIS in a FEMORAL VEIN, following PARTURITION or an illness. This condition is also called milk leg or white leg. Inflammation that is characterized by swollen, pale, and painful limb. It is usually caused by DEEP VEIN THROMBOSIS in a FEMORAL VEIN, following PARTURITION or an illness. This condition is also called milk leg or white leg.[accessedResource: MSH:D013924][accessDate: 05-04-2011] MSH:D013924 Phlegmasia Alba Dolens Phlegmasia Alba Dolens[accessedResource: MSH:D013924][accessDate: 05-04-2011] Thrombophlebitides Thrombophlebitides[accessedResource: MSH:D013924][accessDate: 05-04-2011] Tomasz Adamusiak attention deficit hyperactivity disorder A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV) A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)[accessedResource: MSH:D001289][accessDate: 05-04-2011] ADDH ADDH[accessedResource: MSH:D001289][accessDate: 05-04-2011] ADHD ADHD[accessedResource: MSH:D001289][accessDate: 05-04-2011] ATTENTION DEFICIT DIS ATTENTION DEFICIT DIS WITH HYPERACTIVITY ATTENTION DEFICIT DIS WITH HYPERACTIVITY[accessedResource: MSH:D001289][accessDate: 05-04-2011] ATTENTION DEFICIT DIS[accessedResource: MSH:D001289][accessDate: 05-04-2011] ATTENTION DEFICIT HYPERACTIVITY DIS ATTENTION DEFICIT HYPERACTIVITY DIS[accessedResource: MSH:D001289][accessDate: 05-04-2011] Attention Deficit Disorder Attention Deficit Disorder with Hyperactivity Attention Deficit Disorder with Hyperactivity[accessedResource: MSH:D001289][accessDate: 05-04-2011] Attention Deficit Disorder[accessedResource: MSH:D001289][accessDate: 05-04-2011] Attention Deficit Disorders Attention Deficit Disorders with Hyperactivity Attention Deficit Disorders with Hyperactivity[accessedResource: MSH:D001289][accessDate: 05-04-2011] Attention Deficit Disorders[accessedResource: MSH:D001289][accessDate: 05-04-2011] Attention Deficit Hyperactivity Disorders Attention Deficit Hyperactivity Disorders[accessedResource: MSH:D001289][accessDate: 05-04-2011] Brain Dysfunction, Minimal Brain Dysfunction, Minimal[accessedResource: MSH:D001289][accessDate: 05-04-2011] Deficit Disorder, Attention Deficit Disorder, Attention[accessedResource: MSH:D001289][accessDate: 05-04-2011] Deficit Disorders, Attention Deficit Disorders, Attention[accessedResource: MSH:D001289][accessDate: 05-04-2011] Disorder, Attention Deficit Disorder, Attention Deficit[accessedResource: MSH:D001289][accessDate: 05-04-2011] Disorders, Attention Deficit Disorders, Attention Deficit[accessedResource: MSH:D001289][accessDate: 05-04-2011] Dysfunction, Minimal Brain Dysfunction, Minimal Brain[accessedResource: MSH:D001289][accessDate: 05-04-2011] Hyperkinetic Syndrome Hyperkinetic Syndrome[accessedResource: MSH:D001289][accessDate: 05-04-2011] MSH:D001289 Minimal Brain Dysfunction Minimal Brain Dysfunction[accessedResource: MSH:D001289][accessDate: 05-04-2011] OMIM:143465 Syndromes, Hyperkinetic Syndromes, Hyperkinetic[accessedResource: MSH:D001289][accessDate: 05-04-2011] Tomasz Adamusiak true functional laterality Ambidexterity Ambidexterity[accessedResource: MSH:D007839][accessDate: 05-04-2011] Behavioral Laterality Behavioral Laterality[accessedResource: MSH:D007839][accessDate: 05-04-2011] Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot. Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.[accessedResource: MSH:D007839][accessDate: 05-04-2011] Handedness Handedness[accessedResource: MSH:D007839][accessDate: 05-04-2011] Laterality of Motor Control Laterality of Motor Control[accessedResource: MSH:D007839][accessDate: 05-04-2011] Laterality, Behavioral Laterality, Behavioral[accessedResource: MSH:D007839][accessDate: 05-04-2011] Laterality, Functional Laterality, Functional[accessedResource: MSH:D007839][accessDate: 05-04-2011] MSH:D007839 Mirror Writing Mirror Writing[accessedResource: MSH:D007839][accessDate: 05-04-2011] Mirror Writings Mirror Writings[accessedResource: MSH:D007839][accessDate: 05-04-2011] Motor Control Laterality Motor Control Laterality[accessedResource: MSH:D007839][accessDate: 05-04-2011] OMIM:139900 Tomasz Adamusiak Writing, Mirror Writing, Mirror[accessedResource: MSH:D007839][accessDate: 05-04-2011] Writings, Mirror Writings, Mirror[accessedResource: MSH:D007839][accessDate: 05-04-2011] true drug dependence Abuse, Drug Abuse, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011] Abuse, Substance Abuse, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011] Abuses, Substance Abuses, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011] Addiction, Drug Addiction, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011] Addiction, Substance Addiction, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011] DRUG USE DIS DRUG USE DIS[accessedResource: MSH:D019966][accessDate: 05-04-2011] Dependence, Drug Dependence, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011] Dependence, Substance Dependence, Substance[accessedResource: MSH:D019966][accessDate: 05-04-2011] Disorder, Drug Use Disorder, Drug Use[accessedResource: MSH:D019966][accessDate: 05-04-2011] Disorder, Substance Use Disorder, Substance Use[accessedResource: MSH:D019966][accessDate: 05-04-2011] Disorders related to substance abuse, the side effects of a medication, or toxin exposure. Disorders related to substance abuse, the side effects of a medication, or toxin exposure.[accessedResource: MSH:D019966][accessDate: 05-04-2011] Drug Abuse Drug Abuse[accessedResource: MSH:D019966][accessDate: 05-04-2011] Drug Addiction Drug Addiction[accessedResource: MSH:D019966][accessDate: 05-04-2011] Drug Habituation Drug Habituation[accessedResource: MSH:D019966][accessDate: 05-04-2011] Drug Usage Drug Usage[accessedResource: MSH:D019966][accessDate: 05-04-2011] Drug Use Disorder Drug Use Disorder[accessedResource: MSH:D019966][accessDate: 05-04-2011] Drug Use Disorders Drug Use Disorders[accessedResource: MSH:D019966][accessDate: 05-04-2011] Habituation, Drug Habituation, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011] MSH:D019966 ORGANIC MENTAL DIS SUBSTANCE INDUCED ORGANIC MENTAL DIS SUBSTANCE INDUCED[accessedResource: MSH:D019966][accessDate: 05-04-2011] Organic Mental Disorders, Substance Induced Organic Mental Disorders, Substance Induced[accessedResource: MSH:D019966][accessDate: 05-04-2011] Organic Mental Disorders, Substance-Induced Organic Mental Disorders, Substance-Induced[accessedResource: MSH:D019966][accessDate: 05-04-2011] SUBSTANCE RELATED DIS SUBSTANCE RELATED DIS[accessedResource: MSH:D019966][accessDate: 05-04-2011] SUBSTANCE USE DIS SUBSTANCE USE DIS[accessedResource: MSH:D019966][accessDate: 05-04-2011] Substance Abuse Substance Abuse[accessedResource: MSH:D019966][accessDate: 05-04-2011] Substance Abuses Substance Abuses[accessedResource: MSH:D019966][accessDate: 05-04-2011] Substance Addiction Substance Addiction[accessedResource: MSH:D019966][accessDate: 05-04-2011] Substance Dependence Substance Dependence[accessedResource: MSH:D019966][accessDate: 05-04-2011] Substance Use Disorder Substance Use Disorder[accessedResource: MSH:D019966][accessDate: 05-04-2011] Substance Use Disorders Substance Use Disorders[accessedResource: MSH:D019966][accessDate: 05-04-2011] Substance-Related Disorders Substance-Related Disorders[accessedResource: MSH:D019966][accessDate: 05-04-2011] Tomasz Adamusiak Usage, Drug Usage, Drug[accessedResource: MSH:D019966][accessDate: 05-04-2011] addiction true biliary tract neoplasm BILIARY TRACT NEOPL BILIARY TRACT NEOPL[accessedResource: MSH:D001661][accessDate: 05-04-2011] Biliary Tract Cancer Biliary Tract Cancer[accessedResource: MSH:D001661][accessDate: 05-04-2011] Biliary Tract Cancers Biliary Tract Cancers[accessedResource: MSH:D001661][accessDate: 05-04-2011] Biliary Tract Neoplasms Biliary Tract Neoplasms[accessedResource: MSH:D001661][accessDate: 05-04-2011] Cancer of Biliary Tract Cancer of Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011] Cancer of the Biliary Tract Cancer of the Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011] Cancer, Biliary Tract Cancer, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011] Cancers, Biliary Tract Cancers, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011] MSH:D001661 NEOPL BILIARY TRACT NEOPL BILIARY TRACT[accessedResource: MSH:D001661][accessDate: 05-04-2011] Neoplasm, Biliary Tract Neoplasm, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011] Neoplasms, Biliary Tract Neoplasms, Biliary Tract[accessedResource: MSH:D001661][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER. Tumors or cancer in the BILIARY TRACT including the BILE DUCTS and the GALLBLADDER.[accessedResource: MSH:D001661][accessDate: 05-04-2011] pulmonary function measurement FUNCTION TEST PULM FUNCTION TEST PULM[accessedResource: MSH:D012129][accessDate: 05-04-2011] FUNCTION TESTS PULM FUNCTION TESTS PULM[accessedResource: MSH:D012129][accessDate: 05-04-2011] Function Test, Lung Function Test, Lung[accessedResource: MSH:D012129][accessDate: 05-04-2011] Function Test, Pulmonary Function Test, Pulmonary[accessedResource: MSH:D012129][accessDate: 05-04-2011] Function Test, Respiratory Function Test, Respiratory[accessedResource: MSH:D012129][accessDate: 05-04-2011] Function Tests, Lung Function Tests, Lung[accessedResource: MSH:D012129][accessDate: 05-04-2011] Function Tests, Pulmonary Function Tests, Pulmonary[accessedResource: MSH:D012129][accessDate: 05-04-2011] Function Tests, Respiratory Function Tests, Respiratory[accessedResource: MSH:D012129][accessDate: 05-04-2011] Lung Function Test Lung Function Test[accessedResource: MSH:D012129][accessDate: 05-04-2011] Lung Function Tests Lung Function Tests[accessedResource: MSH:D012129][accessDate: 05-04-2011] MSH:D012129 Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc. Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.[accessedResource: MSH:D012129][accessDate: 05-04-2011] PULM FUNCTION TEST PULM FUNCTION TESTS PULM FUNCTION TESTS[accessedResource: MSH:D012129][accessDate: 05-04-2011] PULM FUNCTION TEST[accessedResource: MSH:D012129][accessDate: 05-04-2011] Pulmonary Function Tests Pulmonary Function Tests[accessedResource: MSH:D012129][accessDate: 05-04-2011] Respiratory Function Test Respiratory Function Test[accessedResource: MSH:D012129][accessDate: 05-04-2011] Respiratory Function Tests Respiratory Function Tests[accessedResource: MSH:D012129][accessDate: 05-04-2011] TEST PULM FUNCTION TEST PULM FUNCTION[accessedResource: MSH:D012129][accessDate: 05-04-2011] TESTS PULM FUNCTION TESTS PULM FUNCTION[accessedResource: MSH:D012129][accessDate: 05-04-2011] Test, Lung Function Test, Lung Function[accessedResource: MSH:D012129][accessDate: 05-04-2011] Test, Pulmonary Function Test, Pulmonary Function[accessedResource: MSH:D012129][accessDate: 05-04-2011] Test, Respiratory Function Test, Respiratory Function[accessedResource: MSH:D012129][accessDate: 05-04-2011] Tests, Lung Function Tests, Lung Function[accessedResource: MSH:D012129][accessDate: 05-04-2011] Tests, Pulmonary Function Tests, Pulmonary Function[accessedResource: MSH:D012129][accessDate: 05-04-2011] Tests, Respiratory Function Tests, Respiratory Function[accessedResource: MSH:D012129][accessDate: 05-04-2011] Tomasz Adamusiak true pulmonary function test ovarian neoplasm Cancer of Ovary MSH:D010051 NEOPL OVARIAN NEOPL OVARIAN[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasm, Ovarian Neoplasm, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasm, Ovary Neoplasm, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasms located in the ovary that can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS. Neoplasms, Ovarian Neoplasms, Ovarian[accessedResource: MSH:D010051][accessDate: 05-04-2011] Neoplasms, Ovary Neoplasms, Ovary[accessedResource: MSH:D010051][accessDate: 05-04-2011] OVARIAN NEOPL OVARIAN NEOPL[accessedResource: MSH:D010051][accessDate: 05-04-2011] OVARY NEOPL OVARY NEOPL[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovarian Neoplasms Ovarian Neoplasms[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovary Neoplasm Ovary Neoplasm[accessedResource: MSH:D010051][accessDate: 05-04-2011] Ovary Neoplasms Ovary Neoplasms[accessedResource: MSH:D010051][accessDate: 05-04-2011] Tomasz Adamusiak acne A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors. A chronic disorder of the pilosebaceous apparatus associated with an increase in sebum secretion. It is characterized by open comedones (blackheads), closed comedones (whiteheads), and pustular nodules. The cause is unknown, but heredity and age are predisposing factors.[accessedResource: MSH:D000152][accessDate: 05-04-2011] Acne Vulgaris Acne Vulgaris[accessedResource: MSH:D000152][accessDate: 05-04-2011] MSH:D000152 Tomasz Adamusiak epistaxis Bleeding from the nose. Bleeding from the nose.[accessedResource: MSH:D004844][accessDate: 05-04-2011] Bleeding, Nasal Bleeding, Nasal[accessedResource: MSH:D004844][accessDate: 05-04-2011] Bleedings, Nasal Bleedings, Nasal[accessedResource: MSH:D004844][accessDate: 05-04-2011] MSH:D004844 Nasal Bleeding Nasal Bleeding[accessedResource: MSH:D004844][accessDate: 05-04-2011] Nasal Bleedings Nasal Bleedings[accessedResource: MSH:D004844][accessDate: 05-04-2011] Nose Bleed Nose Bleed[accessedResource: MSH:D004844][accessDate: 05-04-2011] Nose Bleeds Nose Bleeds[accessedResource: MSH:D004844][accessDate: 05-04-2011] Nosebleed Nosebleed[accessedResource: MSH:D004844][accessDate: 05-04-2011] Tomasz Adamusiak left ventricular hypertrophy Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality. Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality.[accessedResource: MSH:D017379][accessDate: 05-04-2011] Hypertrophies, Left Ventricular Hypertrophies, Left Ventricular[accessedResource: MSH:D017379][accessDate: 05-04-2011] Hypertrophy, Left Ventricular Hypertrophy, Left Ventricular[accessedResource: MSH:D017379][accessDate: 05-04-2011] Left Ventricular Hypertrophies Left Ventricular Hypertrophies[accessedResource: MSH:D017379][accessDate: 05-04-2011] MSH:D017379 Tomasz Adamusiak Ventricular Hypertrophies, Left Ventricular Hypertrophies, Left[accessedResource: MSH:D017379][accessDate: 05-04-2011] Ventricular Hypertrophy, Left Ventricular Hypertrophy, Left[accessedResource: MSH:D017379][accessDate: 05-04-2011] stomach neoplasm Cancer of Stomach Cancer of Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011] Cancer of the Stomach Cancer of the Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011] Cancer, Gastric Cancer, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011] Cancer, Stomach Cancer, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011] Cancers, Gastric Cancers, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011] Cancers, Stomach Cancers, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011] GASTRIC NEOPL GASTRIC NEOPL[accessedResource: MSH:D013274][accessDate: 05-04-2011] Gastric Cancer Gastric Cancer[accessedResource: MSH:D013274][accessDate: 05-04-2011] Gastric Cancers Gastric Cancers[accessedResource: MSH:D013274][accessDate: 05-04-2011] Gastric Neoplasm Gastric Neoplasm[accessedResource: MSH:D013274][accessDate: 05-04-2011] Gastric Neoplasms Gastric Neoplasms[accessedResource: MSH:D013274][accessDate: 05-04-2011] MSH:D013274 NEOPL GASTRIC NEOPL GASTRIC[accessedResource: MSH:D013274][accessDate: 05-04-2011] NEOPL STOMACH NEOPL STOMACH[accessedResource: MSH:D013274][accessDate: 05-04-2011] Neoplasm, Gastric Neoplasm, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011] Neoplasm, Stomach Neoplasm, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011] Neoplasms, Gastric Neoplasms, Gastric[accessedResource: MSH:D013274][accessDate: 05-04-2011] Neoplasms, Stomach Neoplasms, Stomach[accessedResource: MSH:D013274][accessDate: 05-04-2011] STOMACH NEOPL STOMACH NEOPL[accessedResource: MSH:D013274][accessDate: 05-04-2011] Stomach Cancer Stomach Cancer[accessedResource: MSH:D013274][accessDate: 05-04-2011] Stomach Cancers Stomach Cancers[accessedResource: MSH:D013274][accessDate: 05-04-2011] Stomach Neoplasms Stomach Neoplasms[accessedResource: MSH:D013274][accessDate: 05-04-2011] Tomasz Adamusiak Tumors or cancer of the STOMACH. Tumors or cancer of the STOMACH.[accessedResource: MSH:D013274][accessDate: 05-04-2011] true ankylosing spondylitis A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions. A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.[accessedResource: MSH:D013167][accessDate: 05-04-2011] Ankylosing Spondylarthritides Ankylosing Spondylarthritides[accessedResource: MSH:D013167][accessDate: 05-04-2011] Ankylosing Spondylarthritis Ankylosing Spondylarthritis[accessedResource: MSH:D013167][accessDate: 05-04-2011] Ankylosing Spondyloarthritides Ankylosing Spondyloarthritides[accessedResource: MSH:D013167][accessDate: 05-04-2011] Ankylosing Spondyloarthritis Ankylosing Spondyloarthritis[accessedResource: MSH:D013167][accessDate: 05-04-2011] BECHTEREW DIS BECHTEREW DIS[accessedResource: MSH:D013167][accessDate: 05-04-2011] BECHTEREWS DIS BECHTEREWS DIS[accessedResource: MSH:D013167][accessDate: 05-04-2011] Bechterew Disease Bechterew Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011] Bechterew's Disease Bechterew's Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011] Bechterews Disease Bechterews Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011] MARIE STRUEMPELL DIS MARIE STRUEMPELL DIS[accessedResource: MSH:D013167][accessDate: 05-04-2011] MSH:D013167 Marie Struempell Disease Marie Struempell Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011] Marie-Struempell Disease Marie-Struempell Disease[accessedResource: MSH:D013167][accessDate: 05-04-2011] Rheumatoid Spondylitis Rheumatoid Spondylitis[accessedResource: MSH:D013167][accessDate: 05-04-2011] Spondylarthritides, Ankylosing Spondylarthritides, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011] Spondylarthritis Ankylopoietica Spondylarthritis Ankylopoietica[accessedResource: MSH:D013167][accessDate: 05-04-2011] Spondylarthritis, Ankylosing Spondylarthritis, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011] Spondylitis, Ankylosing Spondylitis, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011] Spondylitis, Rheumatoid Spondylitis, Rheumatoid[accessedResource: MSH:D013167][accessDate: 05-04-2011] Spondyloarthritides, Ankylosing Spondyloarthritides, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011] Spondyloarthritis, Ankylosing Spondyloarthritis, Ankylosing[accessedResource: MSH:D013167][accessDate: 05-04-2011] Tomasz Adamusiak true contracture Contractures Contractures[accessedResource: MSH:D003286][accessDate: 05-04-2011] MSH:D003286 Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint. Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.[accessedResource: MSH:D003286][accessDate: 05-04-2011] Tomasz Adamusiak ciliopathy CILIARY MOTILITY DIS CILIARY MOTILITY DIS[accessedResource: MSH:D002925][accessDate: 05-04-2011] Cilia Syndrome, Immotile Cilia Syndrome, Immotile[accessedResource: MSH:D002925][accessDate: 05-04-2011] Cilia Syndromes, Immotile Cilia Syndromes, Immotile[accessedResource: MSH:D002925][accessDate: 05-04-2011] Ciliary Dyskinesia Ciliary Dyskinesia[accessedResource: MSH:D002925][accessDate: 05-04-2011] Ciliary Dyskinesias Ciliary Dyskinesias[accessedResource: MSH:D002925][accessDate: 05-04-2011] Ciliary Motility Disorder Ciliary Motility Disorder[accessedResource: MSH:D002925][accessDate: 05-04-2011] Ciliary Motility Disorders Ciliary Motility Disorders[accessedResource: MSH:D002925][accessDate: 05-04-2011] Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms. Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.[accessedResource: MSH:D002925][accessDate: 05-04-2011] Disorder, Ciliary Motility Disorder, Ciliary Motility[accessedResource: MSH:D002925][accessDate: 05-04-2011] Disorders, Ciliary Motility Disorders, Ciliary Motility[accessedResource: MSH:D002925][accessDate: 05-04-2011] Dyskinesia, Ciliary Dyskinesia, Ciliary[accessedResource: MSH:D002925][accessDate: 05-04-2011] Dyskinesias, Ciliary Dyskinesias, Ciliary[accessedResource: MSH:D002925][accessDate: 05-04-2011] Immotile Cilia Syndrome Immotile Cilia Syndrome[accessedResource: MSH:D002925][accessDate: 05-04-2011] Immotile Cilia Syndromes Immotile Cilia Syndromes[accessedResource: MSH:D002925][accessDate: 05-04-2011] MSH:D002925 OMIM:244400 Syndrome, Immotile Cilia Syndrome, Immotile Cilia[accessedResource: MSH:D002925][accessDate: 05-04-2011] Syndromes, Immotile Cilia Syndromes, Immotile Cilia[accessedResource: MSH:D002925][accessDate: 05-04-2011] Tomasz Adamusiak dysuria MSH:D053159 Painful URINATION. It is often associated with infections of the lower URINARY TRACT. Painful URINATION. It is often associated with infections of the lower URINARY TRACT.[accessedResource: MSH:D053159][accessDate: 05-04-2011] Tomasz Adamusiak spinal fracture Broken bones in the vertebral column. Broken bones in the vertebral column.[accessedResource: MSH:D016103][accessDate: 05-04-2011] Fracture, Spinal Fracture, Spinal[accessedResource: MSH:D016103][accessDate: 05-04-2011] Fractures, Spinal Fractures, Spinal[accessedResource: MSH:D016103][accessDate: 05-04-2011] MSH:D016103 Spinal Fractures Spinal Fractures[accessedResource: MSH:D016103][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_Wiskott-Aldrich syndrome A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common. A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.[accessedResource: MSH:D014923][accessDate: 05-04-2011] Aldrich Syndrome Aldrich Syndrome[accessedResource: MSH:D014923][accessDate: 05-04-2011] MSH:D014923 OMIM:277970 Syndrome, Aldrich Syndrome, Aldrich[accessedResource: MSH:D014923][accessDate: 05-04-2011] Syndrome, Wiskott-Aldrich Syndrome, Wiskott-Aldrich[accessedResource: MSH:D014923][accessDate: 05-04-2011] Tomasz Adamusiak Wiskott Aldrich Syndrome Wiskott Aldrich Syndrome[accessedResource: MSH:D014923][accessDate: 05-04-2011] true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_144' instead. New Label : Wiskott-Aldrich syndrome venous thrombosis MSH:D020246 Phlebothromboses Phlebothromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011] Phlebothrombosis Phlebothrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011] The formation or presence of a blood clot (THROMBUS) within a vein. The formation or presence of a blood clot (THROMBUS) within a vein.[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thromboses, Venous Thromboses, Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thrombosis, Venous Thrombosis, Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011] Tomasz Adamusiak Venous Thromboses Venous Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011] true heart valve prosthesis A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material. A device that substitutes for a heart valve. It may be composed of biological material (BIOPROSTHESIS) and/or synthetic material.[accessedResource: MSH:D006350][accessDate: 05-04-2011] Cardiac Valve Prostheses Cardiac Valve Prostheses[accessedResource: MSH:D006350][accessDate: 05-04-2011] Cardiac Valve Prosthesis Cardiac Valve Prosthesis[accessedResource: MSH:D006350][accessDate: 05-04-2011] Heart Valve Prostheses Heart Valve Prostheses[accessedResource: MSH:D006350][accessDate: 05-04-2011] Heart Valve Prosthesis Implantation Heart Valve Prosthesis Implantation[accessedResource: MSH:D019918][accessDate: 05-04-2011] Implantation, Heart Valve Prosthesis Implantation, Heart Valve Prosthesis[accessedResource: MSH:D019918][accessDate: 05-04-2011] MSH:D006350 MSH:D019918 Prostheses, Cardiac Valve Prostheses, Cardiac Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011] Prostheses, Heart Valve Prostheses, Heart Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011] Prosthesis, Cardiac Valve Prosthesis, Cardiac Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011] Prosthesis, Heart Valve Prosthesis, Heart Valve[accessedResource: MSH:D006350][accessDate: 05-04-2011] Surgical insertion of synthetic material to repair injured or diseased heart valves. Surgical insertion of synthetic material to repair injured or diseased heart valves.[accessedResource: MSH:D019918][accessDate: 05-04-2011] Tomasz Adamusiak Valve Prostheses, Cardiac Valve Prostheses, Cardiac[accessedResource: MSH:D006350][accessDate: 05-04-2011] Valve Prostheses, Heart Valve Prostheses, Heart[accessedResource: MSH:D006350][accessDate: 05-04-2011] Valve Prosthesis, Cardiac Valve Prosthesis, Cardiac[accessedResource: MSH:D006350][accessDate: 05-04-2011] Valve Prosthesis, Heart Valve Prosthesis, Heart[accessedResource: MSH:D006350][accessDate: 05-04-2011] deep vein thrombosis Deep Vein Thromboses Deep Vein Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011] Deep Venous Thromboses Deep Venous Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011] Deep Venous Thrombosis Deep Venous Thrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011] Deep-Vein Thromboses Deep-Vein Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011] Deep-Vein Thrombosis Deep-Vein Thrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011] Deep-Venous Thromboses Deep-Venous Thromboses[accessedResource: MSH:D020246][accessDate: 05-04-2011] Deep-Venous Thrombosis Deep-Venous Thrombosis[accessedResource: MSH:D020246][accessDate: 05-04-2011] MSH:D020246 NCIt:C49343 The formation or presence of a blood clot (THROMBUS) within a deep vein in the lower extremity Thromboses, Deep Vein Thromboses, Deep Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thromboses, Deep Venous Thromboses, Deep Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thromboses, Deep-Vein Thromboses, Deep-Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thromboses, Deep-Venous Thromboses, Deep-Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thrombosis, Deep Vein Thrombosis, Deep Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thrombosis, Deep Venous Thrombosis, Deep Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thrombosis, Deep-Vein Thrombosis, Deep-Vein[accessedResource: MSH:D020246][accessDate: 05-04-2011] Thrombosis, Deep-Venous Thrombosis, Deep-Venous[accessedResource: MSH:D020246][accessDate: 05-04-2011] Tomasz Adamusiak Vein Thromboses, Deep Vein Thromboses, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011] Vein Thrombosis, Deep Vein Thrombosis, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011] Venous Thromboses, Deep Venous Thromboses, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011] Venous Thrombosis, Deep Venous Thrombosis, Deep[accessedResource: MSH:D020246][accessDate: 05-04-2011] Dani Welter refractive error Ametropia Ametropia[accessedResource: MSH:D012030][accessDate: 05-04-2011] Ametropias Ametropias[accessedResource: MSH:D012030][accessDate: 05-04-2011] Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus. Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus.[accessedResource: MSH:D012030][accessDate: 05-04-2011] Disorder, Refractive Disorder, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011] Disorders, Refractive Disorders, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011] Error, Refractive Error, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011] Errors, Refractive Errors, Refractive[accessedResource: MSH:D012030][accessDate: 05-04-2011] MSH:D012030 REFRACTIVE DIS REFRACTIVE DIS[accessedResource: MSH:D012030][accessDate: 05-04-2011] REFRACTIVE ERR REFRACTIVE ERR[accessedResource: MSH:D012030][accessDate: 05-04-2011] Refractive Disorder Refractive Disorder[accessedResource: MSH:D012030][accessDate: 05-04-2011] Refractive Disorders Refractive Disorders[accessedResource: MSH:D012030][accessDate: 05-04-2011] Refractive Errors Refractive Errors[accessedResource: MSH:D012030][accessDate: 05-04-2011] Tomasz Adamusiak true heart conduction system An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart. An impulse-conducting system composed of modified cardiac muscle, having the power of spontaneous rhythmicity and conduction more highly developed than the rest of the heart.[accessedResource: MSH:D006329][accessDate: 05-04-2011] Conduction System, Heart Conduction System, Heart[accessedResource: MSH:D006329][accessDate: 05-04-2011] Conduction Systems, Heart Conduction Systems, Heart[accessedResource: MSH:D006329][accessDate: 05-04-2011] Heart Conduction Systems Heart Conduction Systems[accessedResource: MSH:D006329][accessDate: 05-04-2011] MSH:D006329 System, Heart Conduction System, Heart Conduction[accessedResource: MSH:D006329][accessDate: 05-04-2011] Systems, Heart Conduction Systems, Heart Conduction[accessedResource: MSH:D006329][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_von Willebrand disease Angiohemophilia Angiohemophilia[accessedResource: MSH:D014842][accessDate: 05-04-2011] Angiohemophilias Angiohemophilias[accessedResource: MSH:D014842][accessDate: 05-04-2011] Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion. Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion.[accessedResource: MSH:D014842][accessDate: 05-04-2011] Hemophilia, Vascular Hemophilia, Vascular[accessedResource: MSH:D014842][accessDate: 05-04-2011] MSH:D014842 Tomasz Adamusiak VON WILLEBRAND DIS VON WILLEBRAND DIS[accessedResource: MSH:D014842][accessDate: 05-04-2011] VON WILLEBRANDS DIS VON WILLEBRANDS DIS[accessedResource: MSH:D014842][accessDate: 05-04-2011] Vascular Hemophilia Vascular Hemophilia[accessedResource: MSH:D014842][accessDate: 05-04-2011] Vascular Hemophilias Vascular Hemophilias[accessedResource: MSH:D014842][accessDate: 05-04-2011] von Willebrand Disease, Recessive Form von Willebrand Disease, Recessive Form[accessedResource: MSH:D014842][accessDate: 05-04-2011] von Willebrand Diseases von Willebrand Diseases[accessedResource: MSH:D014842][accessDate: 05-04-2011] von Willebrand's Disease von Willebrand's Disease[accessedResource: MSH:D014842][accessDate: 05-04-2011] von Willebrand's Diseases von Willebrand's Diseases[accessedResource: MSH:D014842][accessDate: 05-04-2011] von Willebrands Disease von Willebrands Disease[accessedResource: MSH:D014842][accessDate: 05-04-2011] von Willebrands Diseases von Willebrands Diseases[accessedResource: MSH:D014842][accessDate: 05-04-2011] 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_3497' instead. New Label : Von Willebrand disease atrial flutter Atrial Flutters Atrial Flutters[accessedResource: MSH:D001282][accessDate: 05-04-2011] Auricular Flutter Auricular Flutter[accessedResource: MSH:D001282][accessDate: 05-04-2011] Auricular Flutters Auricular Flutters[accessedResource: MSH:D001282][accessDate: 05-04-2011] Flutter, Atrial Flutter, Atrial[accessedResource: MSH:D001282][accessDate: 05-04-2011] Flutter, Auricular Flutter, Auricular[accessedResource: MSH:D001282][accessDate: 05-04-2011] Flutters, Atrial Flutters, Atrial[accessedResource: MSH:D001282][accessDate: 05-04-2011] Flutters, Auricular Flutters, Auricular[accessedResource: MSH:D001282][accessDate: 05-04-2011] MSH:D001282 Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES). Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES).[accessedResource: MSH:D001282][accessDate: 05-04-2011] Tomasz Adamusiak ankle brachial index ABPI An alternative to the ankle-brachial index. An alternative to the ankle-brachial index.[accessedResource: MSH:D055109][accessDate: 05-04-2011] Ankle Brachial Indices Ankle Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011] Ankle Brachial Pressure Index (ABPI) Ankle-Brachial Index Ankle-Brachial Index[accessedResource: MSH:D055109][accessDate: 05-04-2011] Ankle-Brachial Indices Ankle-Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011] Brachial Index, Ankle Brachial Index, Ankle[accessedResource: MSH:D055109][accessDate: 05-04-2011] Brachial Index, Toe Brachial Index, Toe[accessedResource: MSH:D055109][accessDate: 05-04-2011] Brachial Indices, Ankle Brachial Indices, Ankle[accessedResource: MSH:D055109][accessDate: 05-04-2011] Brachial Indices, Toe Brachial Indices, Toe[accessedResource: MSH:D055109][accessDate: 05-04-2011] Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE. Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE.[accessedResource: MSH:D055109][accessDate: 05-04-2011] Index, Ankle Brachial Index, Ankle Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] Index, Ankle-Brachial Index, Ankle-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] Index, Toe Brachial Index, Toe Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] Index, Toe-Brachial Index, Toe-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] Indices, Ankle Brachial Indices, Ankle Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] Indices, Ankle-Brachial Indices, Ankle-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] Indices, Toe Brachial Indices, Toe Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] Indices, Toe-Brachial Indices, Toe-Brachial[accessedResource: MSH:D055109][accessDate: 05-04-2011] MSH:D055109 Toe Brachial Index Toe Brachial Index[accessedResource: MSH:D055109][accessDate: 05-04-2011] Toe Brachial Indices Toe Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011] Toe-Brachial Index Toe-Brachial Index[accessedResource: MSH:D055109][accessDate: 05-04-2011] Toe-Brachial Indices Toe-Brachial Indices[accessedResource: MSH:D055109][accessDate: 05-04-2011] Tomasz Adamusiak ankle brachial pressure index true angina pectoris Angor Pectoris Angor Pectoris[accessedResource: MSH:D000787][accessDate: 05-04-2011] MSH:D000787 Stenocardia Stenocardia[accessedResource: MSH:D000787][accessDate: 05-04-2011] Stenocardias Stenocardias[accessedResource: MSH:D000787][accessDate: 05-04-2011] The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION. The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION.[accessedResource: MSH:D000787][accessDate: 05-04-2011] Tomasz Adamusiak atherosclerosis A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.[accessedResource: MSH:D050197][accessDate: 05-04-2011] Atherogenesis Atherogenesis[accessedResource: MSH:D050197][accessDate: 05-04-2011] Atheroscleroses Atheroscleroses[accessedResource: MSH:D050197][accessDate: 05-04-2011] MSH:D050197 Tomasz Adamusiak true obsolete_congenital abnormality ABNORM CONGEN ABNORM CONGEN[accessedResource: MSH:D000013][accessDate: 05-04-2011] Abnormalities, Congenital Abnormalities, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011] Abnormality, Congenital Abnormality, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011] Birth Defect[accessedResource: MSH:D000013][accessDate: 05-04-2011] Birth Defects Birth Defects[accessedResource: MSH:D000013][accessDate: 05-04-2011] CONGEN ABNORM CONGEN ABNORM[accessedResource: MSH:D000013][accessDate: 05-04-2011] CONGEN DEFECTS CONGEN DEFECTS[accessedResource: MSH:D000013][accessDate: 05-04-2011] Congenital Abnormalities Congenital Abnormalities[accessedResource: MSH:D000013][accessDate: 05-04-2011] Congenital Defect Congenital Defect[accessedResource: MSH:D000013][accessDate: 05-04-2011] Congenital Defects Congenital Defects[accessedResource: MSH:D000013][accessDate: 05-04-2011] DEFECTS CONGEN DEFECTS CONGEN[accessedResource: MSH:D000013][accessDate: 05-04-2011] Defect, Birth Defect, Birth[accessedResource: MSH:D000013][accessDate: 05-04-2011] Defect, Congenital Defect, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011] Defects, Birth Defects, Birth[accessedResource: MSH:D000013][accessDate: 05-04-2011] Defects, Congenital Defects, Congenital[accessedResource: MSH:D000013][accessDate: 05-04-2011] Deformities Deformities[accessedResource: MSH:D000013][accessDate: 05-04-2011] Deformity Deformity[accessedResource: MSH:D000013][accessDate: 05-04-2011] MSH:D000013 Malformations of organs or body parts during development in utero. Malformations of organs or body parts during development in utero.[accessedResource: MSH:D000013][accessDate: 05-04-2011] Tomasz Adamusiak birth defect The class was a mixed bag of disease which have now been moved to more appropriate parent classes. No direct substitute. 2.32.2 true obsolete_cerebral arteriovenous malformation AVM (Arteriovenous Malformation) Intracranial AVM (Arteriovenous Malformation) Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformation, Cerebral Arteriovenous Malformation, Cerebral[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformation, Intracranial Arteriovenous Malformation, Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformations, Cerebral Arteriovenous Malformations, Cerebral[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformations, Intracranial Arteriovenous Malformations, Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011] CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS[accessedResource: MSH:D002538][accessDate: 05-04-2011] Cerebral Arteriovenous Malformations Cerebral Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011] Congenital Intracranial Arteriovenous Malformations Congenital Intracranial Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011] Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect. Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.[accessedResource: MSH:D002538][accessDate: 05-04-2011] INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN[accessedResource: MSH:D002538][accessDate: 05-04-2011] INTRACRANIAL AVM INTRACRANIAL AVM[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformation Intracranial Arteriovenous Malformation, Ruptured Intracranial Arteriovenous Malformation, Ruptured[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformation[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformations Intracranial Arteriovenous Malformations, Congenital Intracranial Arteriovenous Malformations, Congenital[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011] MSH:D002538 Malformation, Cerebral Arteriovenous Malformation, Cerebral Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] Malformation, Intracranial Arteriovenous Malformation, Intracranial Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] Malformations, Cerebral Arteriovenous Malformations, Cerebral Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] Malformations, Intracranial Arteriovenous Malformations, Intracranial Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] OMIM:108010 Ruptured Intracranial Arteriovenous Malformation Ruptured Intracranial Arteriovenous Malformation[accessedResource: MSH:D002538][accessDate: 05-04-2011] Tomasz Adamusiak duplicate of class http://www.orphanet.org/rdfns#pat_id_2264 true 2.33 premature birth Birth, Premature Birth, Premature[accessedResource: MSH:D047928][accessDate: 05-04-2011] Birth, Preterm Birth, Preterm[accessedResource: MSH:D047928][accessDate: 05-04-2011] Births, Premature Births, Premature[accessedResource: MSH:D047928][accessDate: 05-04-2011] Births, Preterm Births, Preterm[accessedResource: MSH:D047928][accessDate: 05-04-2011] CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION). CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION).[accessedResource: MSH:D047928][accessDate: 05-04-2011] MSH:D047928 Premature Births Premature Births[accessedResource: MSH:D047928][accessDate: 05-04-2011] Preterm Birth Preterm Birth[accessedResource: MSH:D047928][accessDate: 05-04-2011] Preterm Births Preterm Births[accessedResource: MSH:D047928][accessDate: 05-04-2011] Tomasz Adamusiak obstructive sleep apnea A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395) A disorder characterized by recurrent apneas during sleep despite persistent respiratory efforts. It is due to upper airway obstruction. The respiratory pauses may induce HYPERCAPNIA or HYPOXIA. Cardiac arrhythmias and elevation of systemic and pulmonary arterial pressures may occur. Frequent partial arousals occur throughout sleep, resulting in relative SLEEP DEPRIVATION and daytime tiredness. Associated conditions include OBESITY; ACROMEGALY; MYXEDEMA; micrognathia; MYOTONIC DYSTROPHY; adenotonsilar dystrophy; and NEUROMUSCULAR DISEASES. (From Adams et al., Principles of Neurology, 6th ed, p395)[accessedResource: MSH:D020181][accessDate: 05-04-2011] Apnea, Obstructive Sleep Apnea, Obstructive Sleep[accessedResource: MSH:D020181][accessDate: 05-04-2011] Apneas, Obstructive Sleep Apneas, Obstructive Sleep[accessedResource: MSH:D020181][accessDate: 05-04-2011] MSH:D020181 OMIM:107650 Obstructive Sleep Apnea Syndrome Obstructive Sleep Apnea Syndrome[accessedResource: MSH:D020181][accessDate: 05-04-2011] Obstructive Sleep Apneas Obstructive Sleep Apneas[accessedResource: MSH:D020181][accessDate: 05-04-2011] Sleep Apnea Syndrome, Obstructive Sleep Apnea Syndrome, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011] Sleep Apnea, Obstructive Sleep Apnea, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011] Sleep Apneas, Obstructive Sleep Apneas, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011] Syndrome, Obstructive Sleep Apnea Syndrome, Obstructive Sleep Apnea[accessedResource: MSH:D020181][accessDate: 05-04-2011] Syndrome, Sleep Apnea, Obstructive Syndrome, Sleep Apnea, Obstructive[accessedResource: MSH:D020181][accessDate: 05-04-2011] Syndrome, Upper Airway Resistance, Sleep Apnea Syndrome, Upper Airway Resistance, Sleep Apnea[accessedResource: MSH:D020181][accessDate: 05-04-2011] Tomasz Adamusiak Upper Airway Resistance Sleep Apnea Syndrome Upper Airway Resistance Sleep Apnea Syndrome[accessedResource: MSH:D020181][accessDate: 05-04-2011] risk factor An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent. An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.[accessedResource: MSH:D012307][accessDate: 05-04-2011] Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury. Any aspect of an individual's life, behavior, an environmental exposure, or an inborn or inherited characteristic that increases the likelihood of a disease, condition or injury.[accessedResource: NCIt:C17103][accessDate: 05-04-2011] Factor, Risk Factor, Risk[accessedResource: MSH:D012307][accessDate: 05-04-2011] Factors, Risk Factors, Risk[accessedResource: MSH:D012307][accessDate: 05-04-2011] MSH:D012307 NCIt:C17103 Risk Factors Risk Factors[accessedResource: MSH:D012307][accessDate: 05-04-2011] Tomasz Adamusiak cleft palate Cleft Palates Cleft Palates[accessedResource: MSH:D002972][accessDate: 05-04-2011] Congenital fissure of the soft and/or hard palate, due to faulty fusion. Congenital fissure of the soft and/or hard palate, due to faulty fusion.[accessedResource: MSH:D002972][accessDate: 05-04-2011] MSH:D002972 OMIM:119570 Palate, Cleft Palate, Cleft[accessedResource: MSH:D002972][accessDate: 05-04-2011] Palates, Cleft Palates, Cleft[accessedResource: MSH:D002972][accessDate: 05-04-2011] Tomasz Adamusiak OMIM:119540 pouchitis Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE). Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE).[accessedResource: MSH:D019449][accessDate: 05-04-2011] Ileitis, Pouch Ileitis, Pouch[accessedResource: MSH:D019449][accessDate: 05-04-2011] MSH:D019449 Pouch Ileitis Pouch Ileitis[accessedResource: MSH:D019449][accessDate: 05-04-2011] Tomasz Adamusiak menopause Change of Life, Female Change of Life, Female[accessedResource: MSH:D008593][accessDate: 05-04-2011] MSH:D008593 The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age. The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age.[accessedResource: MSH:D008593][accessDate: 05-04-2011] Tomasz Adamusiak true bone density Bone Densities Bone Densities[accessedResource: MSH:D015519][accessDate: 05-04-2011] Bone Mineral Content Bone Mineral Content[accessedResource: MSH:D015519][accessDate: 05-04-2011] Bone Mineral Contents Bone Mineral Contents[accessedResource: MSH:D015519][accessDate: 05-04-2011] Bone Mineral Densities Bone Mineral Densities[accessedResource: MSH:D015519][accessDate: 05-04-2011] Bone Mineral Density Bone Mineral Density[accessedResource: MSH:D015519][accessDate: 05-04-2011] Density, Bone Density, Bone Mineral Density, Bone Mineral[accessedResource: MSH:D015519][accessDate: 05-04-2011] Density, Bone[accessedResource: MSH:D015519][accessDate: 05-04-2011] MSH:D015519 The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS. The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.[accessedResource: MSH:D015519][accessDate: 05-04-2011] Tomasz Adamusiak true BMD hair color Color of hair or fur. Color of hair or fur.[accessedResource: MSH:D006200][accessDate: 05-04-2011] Color, Hair Color, Hair[accessedResource: MSH:D006200][accessDate: 05-04-2011] Colors, Hair Colors, Hair[accessedResource: MSH:D006200][accessDate: 05-04-2011] Hair Colors Hair Colors[accessedResource: MSH:D006200][accessDate: 05-04-2011] MSH:D006200 Tomasz Adamusiak true cognition Intellectual or mental process whereby an organism becomes aware of or obtains knowledge. Intellectual or mental process whereby an organism becomes aware of or obtains knowledge.[accessedResource: MSH:D003071][accessDate: 05-04-2011] MSH:D003071 Tomasz Adamusiak true neuropsychological test Aphasia Test Aphasia Test[accessedResource: MSH:D009483][accessDate: 05-04-2011] Aphasia Tests Aphasia Tests[accessedResource: MSH:D009483][accessDate: 05-04-2011] MSH:D009483 Memory for Designs Test Memory for Designs Test[accessedResource: MSH:D009483][accessDate: 05-04-2011] NEUROPSYCHOL TEST NEUROPSYCHOL TESTS NEUROPSYCHOL TESTS[accessedResource: MSH:D009483][accessDate: 05-04-2011] NEUROPSYCHOL TEST[accessedResource: MSH:D009483][accessDate: 05-04-2011] Neuropsychologic Test Neuropsychologic Test[accessedResource: MSH:D009483][accessDate: 05-04-2011] Neuropsychologic Tests Neuropsychologic Tests[accessedResource: MSH:D009483][accessDate: 05-04-2011] Neuropsychological Tests Neuropsychological Tests[accessedResource: MSH:D009483][accessDate: 05-04-2011] TEST NEUROPSYCHOL TEST NEUROPSYCHOL[accessedResource: MSH:D009483][accessDate: 05-04-2011] TESTS NEUROPSYCHOL TESTS NEUROPSYCHOL[accessedResource: MSH:D009483][accessDate: 05-04-2011] Test, Aphasia Test, Aphasia[accessedResource: MSH:D009483][accessDate: 05-04-2011] Test, Neuropsychologic Test, Neuropsychologic[accessedResource: MSH:D009483][accessDate: 05-04-2011] Test, Neuropsychological Test, Neuropsychological[accessedResource: MSH:D009483][accessDate: 05-04-2011] Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury. Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.[accessedResource: MSH:D009483][accessDate: 05-04-2011] Tests, Aphasia Tests, Aphasia[accessedResource: MSH:D009483][accessDate: 05-04-2011] Tests, Neuropsychologic Tests, Neuropsychologic[accessedResource: MSH:D009483][accessDate: 05-04-2011] Tests, Neuropsychological Tests, Neuropsychological[accessedResource: MSH:D009483][accessDate: 05-04-2011] Tomasz Adamusiak cognitive performance cognitive performance test cognitive test performance true myopia A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness. A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.[accessedResource: MSH:D009216][accessDate: 05-04-2011] MSH:D009216 Myopias Myopias[accessedResource: MSH:D009216][accessDate: 05-04-2011] Nearsightedness Nearsightedness[accessedResource: MSH:D009216][accessDate: 05-04-2011] Nearsightednesses Nearsightednesses[accessedResource: MSH:D009216][accessDate: 05-04-2011] Tomasz Adamusiak true necrotizing enterocolitis ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT. ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT.[accessedResource: MSH:D020345][accessDate: 05-04-2011] Enterocolitis, Necrotizing Enterocolitis, Necrotizing[accessedResource: MSH:D020345][accessDate: 05-04-2011] MSH:D020345 Tomasz Adamusiak relapsing-remitting multiple sclerosis Acute Relapsing Multiple Sclerosis Acute Relapsing Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011] MS RELAPSING REMITTING MS RELAPSING REMITTING[accessedResource: MSH:D020529][accessDate: 05-04-2011] MSH:D020529 Multiple Sclerosis, Acute Relapsing Multiple Sclerosis, Acute Relapsing[accessedResource: MSH:D020529][accessDate: 05-04-2011] Multiple Sclerosis, Relapsing Remitting Multiple Sclerosis, Relapsing Remitting[accessedResource: MSH:D020529][accessDate: 05-04-2011] Multiple Sclerosis, Relapsing-Remitting Multiple Sclerosis, Relapsing-Remitting[accessedResource: MSH:D020529][accessDate: 05-04-2011] Multiple Sclerosis, Remitting-Relapsing Multiple Sclerosis, Remitting-Relapsing[accessedResource: MSH:D020529][accessDate: 05-04-2011] Relapsing Remitting Multiple Sclerosis Relapsing Remitting Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011] Remitting Relapsing Multiple Sclerosis Remitting Relapsing Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011] Remitting-Relapsing Multiple Sclerosis Remitting-Relapsing Multiple Sclerosis[accessedResource: MSH:D020529][accessDate: 05-04-2011] The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914)[accessedResource: MSH:D020529][accessDate: 05-04-2011] Tomasz Adamusiak menarche MSH:D008572 The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION. The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION.[accessedResource: MSH:D008572][accessDate: 05-04-2011] Tomasz Adamusiak true bone fracture Bone Fractures Bone Fractures[accessedResource: MSH:D050723][accessDate: 05-04-2011] Bone, Broken Bone, Broken[accessedResource: MSH:D050723][accessDate: 05-04-2011] Bones, Broken Bones, Broken[accessedResource: MSH:D050723][accessDate: 05-04-2011] Breaks in bones. Breaks in bones.[accessedResource: MSH:D050723][accessDate: 05-04-2011] Broken Bone Broken Bone[accessedResource: MSH:D050723][accessDate: 05-04-2011] Broken Bones Broken Bones[accessedResource: MSH:D050723][accessDate: 05-04-2011] Fracture, Bone Fracture, Bone[accessedResource: MSH:D050723][accessDate: 05-04-2011] Fractures, Bone Fractures, Bone[accessedResource: MSH:D050723][accessDate: 05-04-2011] MSH:D050723 Tomasz Adamusiak bacterial vaginosis BACT VAGINITIDES BACT VAGINITIDES[accessedResource: MSH:D016585][accessDate: 05-04-2011] BACT VAGINITIS BACT VAGINITIS[accessedResource: MSH:D016585][accessDate: 05-04-2011] BACT VAGINOSES BACT VAGINOSES[accessedResource: MSH:D016585][accessDate: 05-04-2011] BACT VAGINOSIS BACT VAGINOSIS[accessedResource: MSH:D016585][accessDate: 05-04-2011] Bacterial Vaginitides Bacterial Vaginitides[accessedResource: MSH:D016585][accessDate: 05-04-2011] Bacterial Vaginitis Bacterial Vaginitis[accessedResource: MSH:D016585][accessDate: 05-04-2011] Bacterial Vaginoses Bacterial Vaginoses[accessedResource: MSH:D016585][accessDate: 05-04-2011] MSH:D016585 Nonspecific Vaginitis Nonspecific Vaginitis[accessedResource: MSH:D016585][accessDate: 05-04-2011] Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli. Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli.[accessedResource: MSH:D016585][accessDate: 05-04-2011] Tomasz Adamusiak VAGINITIDES BACT VAGINITIDES BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011] VAGINITIS BACT VAGINITIS BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011] VAGINOSES BACT VAGINOSES BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011] VAGINOSIS BACT VAGINOSIS BACT[accessedResource: MSH:D016585][accessDate: 05-04-2011] Vaginitides, Bacterial Vaginitides, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011] Vaginitis, Bacterial Vaginitis, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011] Vaginitis, Nonspecific Vaginitis, Nonspecific[accessedResource: MSH:D016585][accessDate: 05-04-2011] Vaginoses, Bacterial Vaginoses, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011] Vaginosis, Bacterial Vaginosis, Bacterial[accessedResource: MSH:D016585][accessDate: 05-04-2011] obsolete_mitral valve Bicuspid Valve Bicuspid Valve[accessedResource: MSH:D008943][accessDate: 05-04-2011] Bicuspid Valves Bicuspid Valves[accessedResource: MSH:D008943][accessDate: 05-04-2011] MSH:D008943 Mitral Valves Mitral Valves[accessedResource: MSH:D008943][accessDate: 05-04-2011] The valve between the left atrium and left ventricle of the heart. The valve between the left atrium and left ventricle of the heart.[accessedResource: MSH:D008943][accessDate: 05-04-2011] Tomasz Adamusiak Valve, Bicuspid Valve, Bicuspid[accessedResource: MSH:D008943][accessDate: 05-04-2011] Valve, Mitral Valve, Mitral[accessedResource: MSH:D008943][accessDate: 05-04-2011] Valves, Bicuspid Valves, Bicuspid[accessedResource: MSH:D008943][accessDate: 05-04-2011] Valves, Mitral Valves, Mitral[accessedResource: MSH:D008943][accessDate: 05-04-2011] true Use http://purl.obolibrary.org/obo/UBERON_0002135 label: mitral valve 2.38 fatty liver Inflammation of the liver related to lipid accumulation in fatty liver. Inflammation of the liver related to lipid accumulation in fatty liver.[accessedResource: MSH:D005234][accessDate: 05-04-2011] Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS. Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS.[accessedResource: MSH:D005234][accessDate: 05-04-2011] Liver Steatoses Liver Steatoses[accessedResource: MSH:D005234][accessDate: 05-04-2011] Liver Steatosis Liver Steatosis[accessedResource: MSH:D005234][accessDate: 05-04-2011] Liver, Fatty Liver, Fatty[accessedResource: MSH:D005234][accessDate: 05-04-2011] MSH:D005234 OMIM:228100 Steatohepatitides Steatohepatitides[accessedResource: MSH:D005234][accessDate: 05-04-2011] Steatohepatitis Steatohepatitis[accessedResource: MSH:D005234][accessDate: 05-04-2011] Steatoses, Liver Steatoses, Liver[accessedResource: MSH:D005234][accessDate: 05-04-2011] Steatosis of Liver Steatosis of Liver[accessedResource: MSH:D005234][accessDate: 05-04-2011] Steatosis, Liver Steatosis, Liver[accessedResource: MSH:D005234][accessDate: 05-04-2011] Tomasz Adamusiak Visceral Steatosis Visceral Steatosis[accessedResource: MSH:D005234][accessDate: 05-04-2011] mental health Health, Mental Health, Mental[accessedResource: MSH:D008603][accessDate: 05-04-2011] Hygiene, Mental Hygiene, Mental[accessedResource: MSH:D008603][accessDate: 05-04-2011] MSH:D008603 Mental Hygiene Mental Hygiene[accessedResource: MSH:D008603][accessDate: 05-04-2011] The state wherein the person is well adjusted. The state wherein the person is well adjusted.[accessedResource: MSH:D008603][accessDate: 05-04-2011] Tomasz Adamusiak obsolete_physiological process MSH:D055705 Tomasz Adamusiak true 2.25 James Malone GO:0008150 Replaced by an import from GO, biological process in GO is an exact synonym for physiological process The activities of living organisms that support life in single- or multi-cellular organisms from their origin through the progression of life. Adapted from MESH (excluded functions from this definition which is about processes only) true http://purl.obolibrary.org/obo/GO_0008150 aphthous ulcer A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742) A recurrent disease of the oral mucosa of unknown etiology. It is characterized by small white ulcerative lesions, single or multiple, round or oval. Two to eight crops of lesions occur per year, lasting for 7 to 14 days and then heal without scarring. (From Jablonski's Dictionary of Dentistry, 1992, p742)[accessedResource: MSH:D013281][accessDate: 05-04-2011] Aphthae Aphthae[accessedResource: MSH:D013281][accessDate: 05-04-2011] Aphthous Stomatitides Aphthous Stomatitides[accessedResource: MSH:D013281][accessDate: 05-04-2011] Aphthous Stomatitis Aphthous Stomatitis[accessedResource: MSH:D013281][accessDate: 05-04-2011] Aphthous Ulcers Aphthous Ulcers[accessedResource: MSH:D013281][accessDate: 05-04-2011] Canker Sore Canker Sore[accessedResource: MSH:D013281][accessDate: 05-04-2011] Canker Sores Canker Sores[accessedResource: MSH:D013281][accessDate: 05-04-2011] MSH:D013281 Periadenitis Mucosa Necrotica Recurrens Periadenitis Mucosa Necrotica Recurrens[accessedResource: MSH:D013281][accessDate: 05-04-2011] Sore, Canker Sore, Canker[accessedResource: MSH:D013281][accessDate: 05-04-2011] Sores, Canker Sores, Canker[accessedResource: MSH:D013281][accessDate: 05-04-2011] Stomatitides, Aphthous Stomatitides, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011] Stomatitis, Aphthous Stomatitis, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011] Tomasz Adamusiak Ulcer, Aphthous Ulcer, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011] Ulcers, Aphthous Ulcers, Aphthous[accessedResource: MSH:D013281][accessDate: 05-04-2011] aphtous stomatitis energy intake Caloric Intake Caloric Intake[accessedResource: MSH:D002149][accessDate: 05-04-2011] MSH:D002149 Tomasz Adamusiak Total number of calories taken in daily whether ingested or by parenteral routes. Total number of calories taken in daily whether ingested or by parenteral routes.[accessedResource: MSH:D002149][accessDate: 05-04-2011] physical activity Activities, Locomotor Activities, Locomotor[accessedResource: MSH:D009043][accessDate: 05-04-2011] Activities, Motor Activities, Motor[accessedResource: MSH:D009043][accessDate: 05-04-2011] Activities, Physical Activities, Physical[accessedResource: MSH:D009043][accessDate: 05-04-2011] Activity, Locomotor Activity, Locomotor[accessedResource: MSH:D009043][accessDate: 05-04-2011] Activity, Motor Activity, Motor[accessedResource: MSH:D009043][accessDate: 05-04-2011] Activity, Physical Activity, Physical[accessedResource: MSH:D009043][accessDate: 05-04-2011] Locomotor Activities Locomotor Activities[accessedResource: MSH:D009043][accessDate: 05-04-2011] Locomotor Activity Locomotor Activity[accessedResource: MSH:D009043][accessDate: 05-04-2011] MSH:D009043 Motor Activities Motor Activities[accessedResource: MSH:D009043][accessDate: 05-04-2011] Motor Activity Motor Activity[accessedResource: MSH:D009043][accessDate: 05-04-2011] Physical Activities Physical Activities[accessedResource: MSH:D009043][accessDate: 05-04-2011] The physical activity of a human or an animal as a behavioral phenomenon. The physical activity of a human or an animal as a behavioral phenomenon.[accessedResource: MSH:D009043][accessDate: 05-04-2011] Tomasz Adamusiak sex hormone-binding globulin A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications. A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications.[accessedResource: MSH:D012738][accessDate: 05-04-2011] Binding Globulin, Testosterone-Estradiol Binding Globulin, Testosterone-Estradiol[accessedResource: MSH:D012738][accessDate: 05-04-2011] Globulin, Sex Hormone-Binding Globulin, Sex Hormone-Binding[accessedResource: MSH:D012738][accessDate: 05-04-2011] Globulin, Testosterone-Estradiol Binding Globulin, Testosterone-Estradiol Binding[accessedResource: MSH:D012738][accessDate: 05-04-2011] Hormone-Binding Globulin, Sex Hormone-Binding Globulin, Sex[accessedResource: MSH:D012738][accessDate: 05-04-2011] MSH:D012738 SHBG SHBG[accessedResource: MSH:D012738][accessDate: 05-04-2011] Sex Hormone Binding Globulin Sex Hormone Binding Globulin[accessedResource: MSH:D012738][accessDate: 05-04-2011] Sex Steroid Binding Protein Sex Steroid Binding Protein[accessedResource: MSH:D012738][accessDate: 05-04-2011] Sex Steroid-Binding Protein Sex Steroid-Binding Protein[accessedResource: MSH:D012738][accessDate: 05-04-2011] Steroid-Binding Protein, Sex Steroid-Binding Protein, Sex[accessedResource: MSH:D012738][accessDate: 05-04-2011] Testosterone Estradiol Binding Globulin Testosterone Estradiol Binding Globulin[accessedResource: MSH:D012738][accessDate: 05-04-2011] Testosterone-Estradiol Binding Globulin Testosterone-Estradiol Binding Globulin[accessedResource: MSH:D012738][accessDate: 05-04-2011] Tomasz Adamusiak true http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin heterologous transplantation HETEROL TRANSPL HETEROL TRANSPL[accessedResource: MSH:D014183][accessDate: 05-04-2011] Heterograft Heterograft[accessedResource: MSH:D014183][accessDate: 05-04-2011] Heterografts Heterografts[accessedResource: MSH:D014183][accessDate: 05-04-2011] Heterologous Transplantations Heterologous Transplantations[accessedResource: MSH:D014183][accessDate: 05-04-2011] MSH:D014183 TRANSPL HETEROL TRANSPL HETEROL[accessedResource: MSH:D014183][accessDate: 05-04-2011] Tomasz Adamusiak Transplantation between animals of different species. Transplantation between animals of different species.[accessedResource: MSH:D014183][accessDate: 05-04-2011] Transplantation, Heterologous Transplantation, Heterologous[accessedResource: MSH:D014183][accessDate: 05-04-2011] Transplantations, Heterologous Transplantations, Heterologous[accessedResource: MSH:D014183][accessDate: 05-04-2011] XENOTRANSPL XENOTRANSPL[accessedResource: MSH:D014183][accessDate: 05-04-2011] Xenograft Xenograft[accessedResource: MSH:D014183][accessDate: 05-04-2011] Xenografts Xenografts[accessedResource: MSH:D014183][accessDate: 05-04-2011] Xenotransplantation Xenotransplantation[accessedResource: MSH:D014183][accessDate: 05-04-2011] Xenotransplantations Xenotransplantations[accessedResource: MSH:D014183][accessDate: 05-04-2011] humerus fracture Fracture, Humeral Fracture, Humeral[accessedResource: MSH:D006810][accessDate: 05-04-2011] Fractures, Humeral Fractures, Humeral[accessedResource: MSH:D006810][accessDate: 05-04-2011] Humeral Fracture Humeral Fracture[accessedResource: MSH:D006810][accessDate: 05-04-2011] Humeral Fractures Humeral Fractures[accessedResource: MSH:D006810][accessDate: 05-04-2011] MSH:D006810 Tomasz Adamusiak tibia fracture Fracture, Tibial Fracture, Tibial[accessedResource: MSH:D013978][accessDate: 05-04-2011] Fractures, Tibial Fractures, Tibial[accessedResource: MSH:D013978][accessDate: 05-04-2011] MSH:D013978 Tibial Fracture Tibial Fracture[accessedResource: MSH:D013978][accessDate: 05-04-2011] Tibial Fractures Tibial Fractures[accessedResource: MSH:D013978][accessDate: 05-04-2011] Tomasz Adamusiak menorrhagia Excessive uterine bleeding during MENSTRUATION. Excessive uterine bleeding during MENSTRUATION.[accessedResource: MSH:D008595][accessDate: 05-04-2011] Hypermenorrhea Hypermenorrhea[accessedResource: MSH:D008595][accessDate: 05-04-2011] MSH:D008595 Tomasz Adamusiak Fuchs' endothelial dystrophy Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain. Disorder caused by loss of endothelium of the central cornea. It is characterized by hyaline endothelial outgrowths on Descemet's membrane, epithelial blisters, reduced vision, and pain.[accessedResource: MSH:D005642][accessDate: 05-04-2011] Dystrophy, Fuch's Endothelial Dystrophy, Fuch's Endothelial[accessedResource: MSH:D005642][accessDate: 05-04-2011] Dystrophy, Fuchs' Endothelial Dystrophy, Fuchs' Endothelial[accessedResource: MSH:D005642][accessDate: 05-04-2011] Endothelial Dystrophy, Fuch's Endothelial Dystrophy, Fuch's[accessedResource: MSH:D005642][accessDate: 05-04-2011] Endothelial Dystrophy, Fuchs' Endothelial Dystrophy, Fuchs'[accessedResource: MSH:D005642][accessDate: 05-04-2011] Fuch Endothelial Dystrophy Fuch Endothelial Dystrophy[accessedResource: MSH:D005642][accessDate: 05-04-2011] Fuch's Endothelial Dystrophy Fuch's Endothelial Dystrophy[accessedResource: MSH:D005642][accessDate: 05-04-2011] Fuchs Endothelial Dystrophy Fuchs Endothelial Dystrophy[accessedResource: MSH:D005642][accessDate: 05-04-2011] Fuchs' corneal dystrophy Fuchs's corneal dystrophy MSH:D005642 Tomasz Adamusiak true personality Behavior-response patterns that characterize the individual. Behavior-response patterns that characterize the individual.[accessedResource: MSH:D010551][accessDate: 05-04-2011] MSH:D010551 Personalities Personalities[accessedResource: MSH:D010551][accessDate: 05-04-2011] Tomasz Adamusiak true gastroesophageal reflux disease Esophageal Reflux Esophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011] GASTROESOPHAGEAL REFLUX DIS GASTROESOPHAGEAL REFLUX DIS[accessedResource: MSH:D005764][accessDate: 05-04-2011] GERD GERD[accessedResource: MSH:D005764][accessDate: 05-04-2011] Gastro Esophageal Reflux Gastro Esophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011] Gastro oesophageal Reflux Gastro oesophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011] Gastro-Esophageal Reflux Gastro-Esophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011] Gastro-oesophageal Reflux Gastro-oesophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011] Gastroesophageal Reflux Gastroesophageal Reflux[accessedResource: MSH:D005764][accessDate: 05-04-2011] MSH:D005764 OMIM:109350 Reflux, Gastro-Esophageal Reflux, Gastro-Esophageal[accessedResource: MSH:D005764][accessDate: 05-04-2011] Reflux, Gastro-oesophageal Reflux, Gastro-oesophageal[accessedResource: MSH:D005764][accessDate: 05-04-2011] Reflux, Gastroesophageal Reflux, Gastroesophageal[accessedResource: MSH:D005764][accessDate: 05-04-2011] Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER. Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.[accessedResource: MSH:D005764][accessDate: 05-04-2011] Tomasz Adamusiak eye color Color of the iris. Color of the iris.[accessedResource: MSH:D005127][accessDate: 05-04-2011] Color, Eye Color, Eye[accessedResource: MSH:D005127][accessDate: 05-04-2011] Colors, Eye Colors, Eye[accessedResource: MSH:D005127][accessDate: 05-04-2011] Eye Colors Eye Colors[accessedResource: MSH:D005127][accessDate: 05-04-2011] MSH:D005127 Tomasz Adamusiak iris color true ulna fracture Fracture, Ulna Fracture, Ulna[accessedResource: MSH:D014458][accessDate: 05-04-2011] Fractures of the larger bone of the forearm. Fractures of the larger bone of the forearm.[accessedResource: MSH:D014458][accessDate: 05-04-2011] Fractures, Ulna Fractures, Ulna[accessedResource: MSH:D014458][accessDate: 05-04-2011] MSH:D014458 Tomasz Adamusiak Ulna Fractures Ulna Fractures[accessedResource: MSH:D014458][accessDate: 05-04-2011] percutaneous transluminal coronary angioplasty Angioplasties, Coronary Balloon Angioplasties, Coronary Balloon[accessedResource: MSH:D015906][accessDate: 05-04-2011] Angioplasty, Balloon, Coronary Angioplasty, Balloon, Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011] Angioplasty, Coronary Balloon Angioplasty, Coronary Balloon[accessedResource: MSH:D015906][accessDate: 05-04-2011] Angioplasty, Transluminal, Percutaneous Coronary Angioplasty, Transluminal, Percutaneous Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011] Balloon Angioplasties, Coronary Balloon Angioplasties, Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011] Balloon Angioplasty, Coronary Balloon Angioplasty, Coronary[accessedResource: MSH:D015906][accessDate: 05-04-2011] Balloon Dilation, Coronary Artery Balloon Dilation, Coronary Artery[accessedResource: MSH:D015906][accessDate: 05-04-2011] Coronary Angioplasty, Transluminal Balloon Coronary Angioplasty, Transluminal Balloon[accessedResource: MSH:D015906][accessDate: 05-04-2011] Coronary Balloon Angioplasties Coronary Balloon Angioplasties[accessedResource: MSH:D015906][accessDate: 05-04-2011] Coronary Balloon Angioplasty Coronary Balloon Angioplasty[accessedResource: MSH:D015906][accessDate: 05-04-2011] Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply. Dilation of an occluded coronary artery (or arteries) by means of a balloon catheter to restore myocardial blood supply.[accessedResource: MSH:D015906][accessDate: 05-04-2011] MSH:D015906 Tomasz Adamusiak Transluminal Coronary Balloon Dilation Transluminal Coronary Balloon Dilation[accessedResource: MSH:D015906][accessDate: 05-04-2011] fever of unknown origin Fever in which the etiology cannot be ascertained. Fever in which the etiology cannot be ascertained.[accessedResource: MSH:D005335][accessDate: 05-04-2011] MSH:D005335 Tomasz Adamusiak Unknown Origin Fever Unknown Origin Fever[accessedResource: MSH:D005335][accessDate: 05-04-2011] Unknown Origin Fevers Unknown Origin Fevers[accessedResource: MSH:D005335][accessDate: 05-04-2011] circumcision Circumcision, Male Circumcision, Male[accessedResource: MSH:D002944][accessDate: 05-04-2011] Circumcisions, Male Circumcisions, Male[accessedResource: MSH:D002944][accessDate: 05-04-2011] Excision of the prepuce of the penis (FORESKIN) or part of it. Excision of the prepuce of the penis (FORESKIN) or part of it.[accessedResource: MSH:D002944][accessDate: 05-04-2011] MSH:D002944 Male Circumcision[accessedResource: MSH:D002944][accessDate: 05-04-2011] Male Circumcisions Male Circumcisions[accessedResource: MSH:D002944][accessDate: 05-04-2011] Tomasz Adamusiak male circumcision obsolete_Treacher-Collins syndrome A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed) A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)[accessedResource: MSH:D008342][accessDate: 05-04-2011] Collins Syndrome, Treacher Collins Syndrome, Treacher[accessedResource: MSH:D008342][accessDate: 05-04-2011] Dysostoses, Mandibulofacial Dysostoses, Mandibulofacial[accessedResource: MSH:D008342][accessDate: 05-04-2011] Dysostosis, Mandibulofacial Dysostosis, Mandibulofacial[accessedResource: MSH:D008342][accessDate: 05-04-2011] MSH:D008342 Mandibulofacial Dysostoses Mandibulofacial Dysostoses[accessedResource: MSH:D008342][accessDate: 05-04-2011] Mandibulofacial Dysostosis Mandibulofacial Dysostosis[accessedResource: MSH:D008342][accessDate: 05-04-2011] OMIM:154500 Syndrome, Treacher Collins Syndrome, Treacher Collins[accessedResource: MSH:D008342][accessDate: 05-04-2011] Tomasz Adamusiak Treacher Collins Syndrome Treacher Collins Syndrome[accessedResource: MSH:D008342][accessDate: 05-04-2011] use 'http://www.orphanet.org/rdfns#pat_id_293' instead. New Label : Treacher-Collins syndrome true 2.32 bacterial sexually transmitted disease BACT SEX TRANSM DIS BACT SEX TRANSM DIS[accessedResource: MSH:D015231][accessDate: 05-04-2011] BACT VENEREAL DIS BACT VENEREAL DIS[accessedResource: MSH:D015231][accessDate: 05-04-2011] Bacterial Sexually Transmitted Diseases Bacterial Sexually Transmitted Diseases[accessedResource: MSH:D015231][accessDate: 05-04-2011] Bacterial Venereal Disease Bacterial Venereal Disease[accessedResource: MSH:D015231][accessDate: 05-04-2011] Bacterial Venereal Diseases Bacterial Venereal Diseases[accessedResource: MSH:D015231][accessDate: 05-04-2011] Bacterial diseases transmitted or propagated by sexual conduct. Bacterial diseases transmitted or propagated by sexual conduct.[accessedResource: MSH:D015231][accessDate: 05-04-2011] Disease, Bacterial Venereal Disease, Bacterial Venereal[accessedResource: MSH:D015231][accessDate: 05-04-2011] Diseases, Bacterial Venereal Diseases, Bacterial Venereal[accessedResource: MSH:D015231][accessDate: 05-04-2011] MSH:D015231 SEX TRANSM DIS BACT SEX TRANSM DIS BACT[accessedResource: MSH:D015231][accessDate: 05-04-2011] Sexually Transmitted Disease, Bacterial Sexually Transmitted Disease, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011] Sexually Transmitted Diseases, Bacterial Sexually Transmitted Diseases, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011] Tomasz Adamusiak VENEREAL DIS BACT VENEREAL DIS BACT[accessedResource: MSH:D015231][accessDate: 05-04-2011] Venereal Disease, Bacterial Venereal Disease, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011] Venereal Diseases, Bacterial Venereal Diseases, Bacterial[accessedResource: MSH:D015231][accessDate: 05-04-2011] seasonal allergic rhinitis Allergic Rhinitides, Seasonal Allergic Rhinitides, Seasonal[accessedResource: MSH:D006255][accessDate: 05-04-2011] Allergic Rhinitis, Seasonal Allergic Rhinitis, Seasonal[accessedResource: MSH:D006255][accessDate: 05-04-2011] Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS. Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS.[accessedResource: MSH:D006255][accessDate: 05-04-2011] Allergies, Pollen Allergies, Pollen[accessedResource: MSH:D006255][accessDate: 05-04-2011] Allergy, Pollen Allergy, Pollen[accessedResource: MSH:D006255][accessDate: 05-04-2011] Fever, Hay Fever, Hay[accessedResource: MSH:D006255][accessDate: 05-04-2011] Hay Fever Hay Fever[accessedResource: MSH:D006255][accessDate: 05-04-2011] Hayfever Hayfever[accessedResource: MSH:D006255][accessDate: 05-04-2011] MSH:D006255 Pollen Allergies Pollen Allergies[accessedResource: MSH:D006255][accessDate: 05-04-2011] Pollen Allergy Pollen Allergy[accessedResource: MSH:D006255][accessDate: 05-04-2011] Pollinoses Pollinoses[accessedResource: MSH:D006255][accessDate: 05-04-2011] Pollinosis Pollinosis[accessedResource: MSH:D006255][accessDate: 05-04-2011] Rhinitides, Seasonal Allergic Rhinitides, Seasonal Allergic[accessedResource: MSH:D006255][accessDate: 05-04-2011] Rhinitis, Allergic, Seasonal Rhinitis, Allergic, Seasonal[accessedResource: MSH:D006255][accessDate: 05-04-2011] Rhinitis, Seasonal Allergic Rhinitis, Seasonal Allergic[accessedResource: MSH:D006255][accessDate: 05-04-2011] Seasonal Allergic Rhinitides Seasonal Allergic Rhinitides[accessedResource: MSH:D006255][accessDate: 05-04-2011] Tomasz Adamusiak radius fracture Fracture, Radius Fracture, Radius[accessedResource: MSH:D011885][accessDate: 05-04-2011] Fractures, Radius Fractures, Radius[accessedResource: MSH:D011885][accessDate: 05-04-2011] MSH:D011885 Radius Fractures Radius Fractures[accessedResource: MSH:D011885][accessDate: 05-04-2011] Tomasz Adamusiak sunburn An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight. An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight.[accessedResource: MSH:D013471][accessDate: 05-04-2011] MSH:D013471 Sunburns Sunburns[accessedResource: MSH:D013471][accessDate: 05-04-2011] Tomasz Adamusiak true cleft lip Cleft Lips Cleft Lips[accessedResource: MSH:D002971][accessDate: 05-04-2011] Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.[accessedResource: MSH:D002971][accessDate: 05-04-2011] Harelip Harelip[accessedResource: MSH:D002971][accessDate: 05-04-2011] Harelips Harelips[accessedResource: MSH:D002971][accessDate: 05-04-2011] Lip, Cleft Lip, Cleft[accessedResource: MSH:D002971][accessDate: 05-04-2011] Lips, Cleft Lips, Cleft[accessedResource: MSH:D002971][accessDate: 05-04-2011] MSH:D002971 Tomasz Adamusiak true computed tomography Tomasz Adamusiak A computed tomography scan (CT scan) is the output of an imaging technology which produces a 3D iimage of the subject. CT scan computed tomography scan hormone replacement therapy HORMONE REPLACE THER HORMONE REPLACE THER[accessedResource: MSH:D020249][accessDate: 05-04-2011] Hormone Replacement Therapies Hormone Replacement Therapies[accessedResource: MSH:D020249][accessDate: 05-04-2011] Hormone Replacement Therapy Hormone Replacement Therapy[accessedResource: MSH:D020249][accessDate: 05-04-2011] MSH:D020249 REPLACE THER HORMONE REPLACE THER HORMONE[accessedResource: MSH:D020249][accessDate: 05-04-2011] Replacement Therapies, Hormone Replacement Therapies, Hormone[accessedResource: MSH:D020249][accessDate: 05-04-2011] Replacement Therapy, Hormone Replacement Therapy, Hormone[accessedResource: MSH:D020249][accessDate: 05-04-2011] THER HORMONE REPLACE THER HORMONE REPLACE[accessedResource: MSH:D020249][accessDate: 05-04-2011] Therapeutic use of hormones to alleviate the effects of hormone deficiency. Therapeutic use of hormones to alleviate the effects of hormone deficiency.[accessedResource: MSH:D020249][accessDate: 05-04-2011] Therapies, Hormone Replacement Therapies, Hormone Replacement[accessedResource: MSH:D020249][accessDate: 05-04-2011] Therapy, Hormone Replacement Therapy, Hormone Replacement[accessedResource: MSH:D020249][accessDate: 05-04-2011] Tomasz Adamusiak pulsed doppler echocardiography DOPPLER ECHOCARDIOGR PULSED DOPPLER ECHOCARDIOGR PULSED[accessedResource: MSH:D018619][accessDate: 05-04-2011] DOPPLER PULSED ECHOCARDIOGR DOPPLER PULSED ECHOCARDIOGR[accessedResource: MSH:D018619][accessDate: 05-04-2011] Doppler Echocardiography, Pulsed Doppler Echocardiography, Pulsed[accessedResource: MSH:D018619][accessDate: 05-04-2011] Doppler Pulsed Echocardiography Doppler Pulsed Echocardiography[accessedResource: MSH:D018619][accessDate: 05-04-2011] ECHOCARDIOGR DOPPLER PULSED ECHOCARDIOGR DOPPLER PULSED[accessedResource: MSH:D018619][accessDate: 05-04-2011] ECHOCARDIOGR PULSED DOPPLER ECHOCARDIOGR PULSED DOPPLER[accessedResource: MSH:D018619][accessDate: 05-04-2011] Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return. Echocardiography applying the Doppler effect, with velocity detection combined with range discrimination. Short bursts of ultrasound are transmitted at regular intervals and the echoes are demodulated as they return.[accessedResource: MSH:D018619][accessDate: 05-04-2011] Echocardiography, Doppler Pulsed Echocardiography, Doppler Pulsed[accessedResource: MSH:D018619][accessDate: 05-04-2011] Echocardiography, Doppler, Pulsed Echocardiography, Doppler, Pulsed[accessedResource: MSH:D018619][accessDate: 05-04-2011] Echocardiography, Pulsed Doppler Echocardiography, Pulsed Doppler[accessedResource: MSH:D018619][accessDate: 05-04-2011] MSH:D018619 PULSED DOPPLER ECHOCARDIOGR PULSED DOPPLER ECHOCARDIOGR[accessedResource: MSH:D018619][accessDate: 05-04-2011] PULSED ECHOCARDIOGR DOPPLER PULSED ECHOCARDIOGR DOPPLER[accessedResource: MSH:D018619][accessDate: 05-04-2011] Pulsed Echocardiography, Doppler Pulsed Echocardiography, Doppler[accessedResource: MSH:D018619][accessDate: 05-04-2011] Tomasz Adamusiak freckles Chloasma Chloasma[accessedResource: MSH:D008548][accessDate: 05-04-2011] Chloasmas Chloasmas[accessedResource: MSH:D008548][accessDate: 05-04-2011] Disorders of increased melanin pigmentation that develop without preceding inflammatory disease. Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.[accessedResource: MSH:D008548][accessDate: 05-04-2011] Freckle Freckle[accessedResource: MSH:D008548][accessDate: 05-04-2011] MSH:D008548 Melanism Melanism[accessedResource: MSH:D008548][accessDate: 05-04-2011] Melanoses Melanoses[accessedResource: MSH:D008548][accessDate: 05-04-2011] Melanosis Melanosis[accessedResource: MSH:D008548][accessDate: 05-04-2011] Melasma Melasma[accessedResource: MSH:D008548][accessDate: 05-04-2011] Melasmas Melasmas[accessedResource: MSH:D008548][accessDate: 05-04-2011] Tomasz Adamusiak freckling true hip fracture Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES). Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES).[accessedResource: MSH:D006620][accessDate: 05-04-2011] Fractures, Hip Fractures, Hip[accessedResource: MSH:D006620][accessDate: 05-04-2011] Fractures, Intertrochanteric Fractures, Intertrochanteric[accessedResource: MSH:D006620][accessDate: 05-04-2011] Fractures, Subtrochanteric Fractures, Subtrochanteric[accessedResource: MSH:D006620][accessDate: 05-04-2011] Fractures, Trochanteric Fractures, Trochanteric[accessedResource: MSH:D006620][accessDate: 05-04-2011] Hip Fractures Hip Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011] Intertrochanteric Fractures Intertrochanteric Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011] MSH:D006620 Subtrochanteric Fractures Subtrochanteric Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011] Tomasz Adamusiak Trochanteric Fractures Trochanteric Fractures[accessedResource: MSH:D006620][accessDate: 05-04-2011] femur fracture very low birth weight infant An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age. An infant whose weight at birth is less than 1500 grams (3.3 lbs), regardless of gestational age.[accessedResource: MSH:D019102][accessDate: 05-04-2011] INFANT VLBW INFANT VLBW[accessedResource: MSH:D019102][accessDate: 05-04-2011] Infant, Very Low Birth Weight Infant, Very Low Birth Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011] Infant, Very-Low-Birth-Weight Infant, Very-Low-Birth-Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011] Infants, Very-Low-Birth-Weight Infants, Very-Low-Birth-Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011] MSH:D019102 Tomasz Adamusiak VLBW INFANT VLBW INFANT[accessedResource: MSH:D019102][accessDate: 05-04-2011] Very Low Birth Weight Very Low Birth Weight Infant Very Low Birth Weight Infant[accessedResource: MSH:D019102][accessDate: 05-04-2011] Very Low Birth Weight[accessedResource: MSH:D019102][accessDate: 05-04-2011] Very-Low-Birth-Weight Infant Very-Low-Birth-Weight Infant[accessedResource: MSH:D019102][accessDate: 05-04-2011] Very-Low-Birth-Weight Infants Very-Low-Birth-Weight Infants[accessedResource: MSH:D019102][accessDate: 05-04-2011] eye disease MSH:D005128 Tomasz Adamusiak vascular sarcoma A sarcoma arising from vascular tissue including arteries, veins, venous sinuses, arterioles and capillaries. angiosarcoma A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma. Hemangiosarcoma http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Angiosarcoma treatment protocol A protocol in which the aim is to treat a sample, collection of samples, organism or group of organisms for some experimental analysis of outcome. James Malone mouse erythroleukemia cell MEL cell line Mouse Erythroleukemia cell line ESHyb A mouse embryonic stem cell hybrid cell line Mikkelsen et al. (2007). Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448, 553-560 Mus musculus strain type A designator of mouse strain information indicating the genetic homo or heterogenetity e.g. inbred strain Helen Parkinson closed colony random bred strain A mouse strain type whereby the strain is propagated by random mating within the stock. No genes are introduced from outside the stock from generation to generation. CCO Helen Parkinson http://www.findmice.org/glossary.jsp coisogenic strain A coisogentic strain is a strain that differs from its progenitor inbred strain at only one locus. A coisogenic strain arises when a mutation occurs in an inbred strain. COI Helen Parkinson http://www.findmice.org/glossary.jsp congenic strain A congenic strain is an inbred strain that contains a small genetic region (ideally a single gene) from another strain, but which is otherwise identical to the original inbred strain. Congenic strains are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific locus from the donor strain. For example, CBACa.C3-KitW-x/J is an inbred strain of CBA/Ca background onto which the KitW-x allele from C3H/HeJ has been placed. CON Helen Parkinson http://www.findmice.org/glossary.jsp consomic strain An inbred strain that contains a single entire chromosome from another strain. Consomic (or Chromosome Substitution Strains) are derived by backcrossing to a parental inbred strain for at least ten generations while selecting for retention of a specific whole chromosome from the donor strain. For example, C57BL/6J-Chr 4A/NaJ is a consomic strain in which the Chromosome 4 from the A/J strain has been placed on a C57BL/6J background. CSS Helen Parkinson http://www.findmice.org/glossary.jsp inbred Mus musculus strain An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation. http://www.findmice.org/glossary.jsp mutant strain An inbred strain carrying one or more phenotypic mutations. For example, the mutant strain C3H/H3eSn-bc3J/J carries the bouncy 3 Jackson phenotypic mutation. Helen Parkinson MSR http://www.findmice.org/glossary.jsp recombinant congenic strain Helen Parkinson RCS Strains formed by crossing two inbred strains, followed by a few backcrosses to one of the parental strains, with subsequent inbreeding without selection. recombinant inbred strain An Inbred strain created by crossing two different inbred strains, followed by brother x sister matings for at least 20 generations. A panel of recombinant inbred strains derived from a cross between the same original parental strains can be used to establish linkage between any marker that is polymorphic between the parental strains and other polymorphic markers that have been typed in each strain in the panel. Helen Parkinson RI http://www.findmice.org/glossary.jsp segregating inbred strain An inbred strain that is kept in forced heterozygosity for one or more loci. For example, the SM/J strain segregates for an agouti allele and animals are either Aw/a (white bellied agouti) or a/a (black) in color. Helen Parkinson SEG http://www.findmice.org/glossary.jsp wild-derived inbred strain Helen Parkinson Strains formed by brother x sister matings or other inbreeding schemes from mice originally caught in the wild. WDS http://www.findmice.org/glossary.jsp major histocompatibility congenic strain A congenic strain in which the donor allele transferred to the host strain background is a major histocompatibility gene. Helen Parkinson MAH mating type F MO_717 Tomasz Adamusiak balanced reciprocal translocation A reciprocal translocation in which no genetic material is gained or lost in the resulting fusion chromosomes Helen Parkinson deletion A genetic modification in which some nucleic acid is deleted from the genome of an individual DEL Helen Parkinson http://www.findmice.org/glossary.jsp duplication A genetic modification in which part of the genome is duplicated DP Helen Parkinson http://www.findmice.org/glossary.jsp insertion Helen Parkinson Helen Parkinson INS http://www.findmice.org/glossary.jsp inversion A genetic modification in which some portion of the genome is removed and inserted at 180 degrees to the original orientation. Helen Parkinson INV http://www.findmice.org/glossary.jsp spontaneous mutation Helen Parkinson SM http://www.findmice.org/glossary.jsp A genetic modification which has arisn by a spontaneous mutation in an individual targeted mutation A genetic modification in which a targeted mutation has been introduced into the genome of an individual Helen Parkinson TM http://www.findmice.org/glossary.jsp transgenic A genetic modification in which a transgene has been inserted into an individual TG http://www.findmice.org/glossary.jsp transposition A genetic modification introduced into an individual as the result of transposase activity Helen Parkinson TP http://www.findmice.org/glossary.jsp reciprocal translocation A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired in such a way that the resulting chromosomes each contain material from the other chromosome (a reciprocal translocation). Helen Parkinson Roberstonian translocation A particular type of translocation in which the breakpoints in the two chromosomes occur at or near the centromere, followed by centric fusion such that the long arms now form a metacentric chromosome with a single centromere. Any small fragments generated in the exchange are usually lost. See also Helen Parkinson RB http://www.findmice.org/glossary.jsp translocation A type of chromosome rearrangement in which two nonhomologous chromosomes are each broken and then repaired Helen Parkinson TL http://www.findmice.org/glossary.jsp AA86 C. elegans Daf-d, weak heterochronic phenotypes in seam, somatic gonad, intestine. Class III allele. Helen Parkinson https://dbw6.msi.umn.edu/cgcdb/strain.php?id=5448 AA87 C. elegans Daf-c, gonadal Mig, weak heterochronic phenotypes in intestine and seam. Class VI allele. Helen Parkinson https://dbw6.msi.umn.edu/cgcdb/strain.php?id=5449 AA89 C. elegans daf-c. Gonald Mig. Weak heterochronic phenotypes in intestine. Class VI allele. Helen Parkinson https://dbw6.msi.umn.edu/cgcdb/strain.php?id=5451 N2 C. elegans wild isolate var Bristol. Generation time is about 3 days. Brood size is about 350. Also CGC reference 257. Isolated from mushroom compost near Bristol, England by L.N. Staniland. Cultured by W.L. Nicholas, identified to genus by Gunther Osche and species by Victor Nigon; subsequently cultured by C.E. Dougherty. Given to Sydney Brenner ca. 1966. Subcultured by Don Riddle in 1973. Caenorhabditis elegans wild isolate. DR subclone of CB original (Tc1 pattern I). Helen Parkinson https://dbw6.msi.umn.edu/cgcdb/strain.php?id=10570 HW09 Ballard JW. Comparative genomics of mitochondrial DNA in Drosophila simulans. J Mol Evol. 2000 Jul;51(1):64-75. PubMed PMID: 10903373 doi:10.1007/s002390010067 Drosophila simulans isofemale line; siI haplotype; originally collected from Honolulu, Hawaii in 1998 Helen Parkinson gene trap A genetic modification induced by insertion of a nucleic acid construct containing a reporter gene sequence downstream of a splice acceptor site that is capable of integrating into random chromosomal locations Integration of the gene trap into an intron allows the expression of a new mRNA containing one or more upstream exons followed by the reporter gene. The reporter gene is therefore expressed in the same cells and developmental stages as the gene into which the gene trap has inserted. Ballard JW. Comparative genomics of mitochondrial DNA in Drosophila simulans. J Mol Evol. 2000 Jul;51(1):64-75. PubMed PMID: 10903373 doi:10.1007/s002390010067 GT Helen Parkinson NC48 Ballard JW. Comparative genomics of mitochondrial DNA in Drosophila simulans. J Mol Evol. 2000 Jul;51(1):64-75. PubMed PMID: 10903373 doi:10.1007/s002390010067 Crosophila simulans isofemale line; siI haplotype; originally collected from Noumea, New Caledonia in 1991 Helen Parkinson MD106 Drosophila simulans isofemale line, siII haplotype; originally collected from Ansirabe, Madagascar in 1998 Helen Parkinson http://www.findmice.org/glossary.jsp experiment accession discretized differential expression mating type F minus MO_682 Tomasz Adamusiak mating type h plus MO_855 Tomasz Adamusiak MEF cell line James Malone Mouse embryonic fibroblast cell line mouse embryonic stem cell Mikkelsen et al. (2007). Genome-wide maps of chromatin state in pluripotent and lineage-committed cells. Nature 448, 553-560 mouse embryonic stem cell mouse neural progenitor cell Mouse NPC mouse embryonic fibroblast cell James Malone MEF cell Mouse embryonic fibroblast cell NPC James Malone Mouse Neural Progenitor cell line Mouse Neural Progenitor cell line AB1 James Malone Strain of C. elegans described with phenotypes such as; increased social feeding, foraging behavior variant, carbon dioxide response variant, bordering http://www.wormbase.org/db/gene/strain?name=AB1;class=Strain AB2 James Malone Strain of C. elegans http://www.wormbase.org/db/gene/strain?name=AB2;class=Strain CB30 James Malone Strain of C. elegans described as small, recessive, abnormal bursae, males abnormal with M-MATING-NO SUCCESS. http://www.wormbase.org/db/gene/strain?name=CB30;class=Strain CB88 James Malone Strain of C. elegans http://www.wormbase.org/db/gene/strain?name=CB88;class=Strain CB128 C. elegans strain described as "Small Dpy" James Malone http://www.wormbase.org/db/gene/strain?name=CB128;class=Strain CB184 James Malone Strain of C. elegans described as "Semi-dominant Dpy. Mapping marker standard. M-MATING++ 1-10%WT." http://www.wormbase.org/db/gene/strain?name=CB184;class=Strain CB185 C. elegans strain described with phenotypes "Long. Abnormal bursae. Epistatic to Small. Recessive. M-MATING-NO SUCCESS." James Malone http://www.wormbase.org/db/gene/strain?name=CB185;class=Strain CB491 James Malone Strain of C. elegans described with phenotypes "Small. Recessive. Males abnormal-abnormal spicules. M-MATING-NO SUCCESS." http://www.wormbase.org/db/gene/strain?name=CB491;class=Strain CB678 James Malone Strain of C. elegans described as "Long. Mapping marker standard. M-MATING++++ >30%WT." http://www.wormbase.org/db/gene/strain?name=CB678;class=Strain CB4555 C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant. James Malone http://www.wormbase.org/db/gene/strain?name=CB4555;class=Strain CB4853 C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, carbon dioxide response variant, bordering. James Malone http://www.wormbase.org/db/gene/strain?name=CB4853;class=Strain CB4854 C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering. James Malone http://www.wormbase.org/db/gene/strain?name=CB4854;class=Strain CB4855 C. elegans strain with phenotypes; social feeding increased, foraging behavior variant, bordering. James Malone http://www.wormbase.org/db/gene/strain?name=CB4855;class=Strain CB4856 C. elegans strain with phenotypes; social feeding increased, cryophilic, pathogen susceptibility increased (Esp), biofilm absent head (Bah), carbon dioxide response variant, pathogen load variant James Malone http://www.wormbase.org/db/gene/strain?name=CB4856;class=Strain CB4857 C. elegans strain described with phenotypes; solitary feeding increased, foraging behavior variant, bordering. James Malone http://www.wormbase.org/db/gene/strain?name=CB4857;class=Strain CB4932 C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering James Malone http://www.wormbase.org/db/gene/strain?name=CB4932;class=Strain MT3847 C. elegans strain described as "long". James Malone http://www.wormbase.org/db/gene/strain?name=MT3847;class=Strain RC301 C. elegans strain described with phenotypes; social feeding increased, foraging behavior variant, bordering. James Malone http://www.wormbase.org/db/gene/strain?name=RC301;class=Strain TR389 C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant. http://www.wormbase.org/db/gene/strain?name=TR389;class=Strain TR403 C. elegans strain with phenotypes; solitary feeding increased, foraging behavior variant. James Malone http://www.wormbase.org/db/gene/strain?name=TR403;class=Strain NL2099 C. elegans strian. Additional remarks include "Homozygous rrf-3 deletion allele. Increased sensitivity to RNAi when compared to WT animals. Deletion sequence (deletion in lower case letters, flanking undeleted sequence in capital letters): TGCACATATTctacagaatt ------- --------tacccgattaAATGGACAATT (from Plasterk Lab 11/05)." James Malone http://www.wormbase.org/db/gene/strain?name=NL2099;class=Strain AF16 James Malone Strain of C. briggsae described with phenotypes; biofilm absent head (Bah), carbon dioxide response variant, mate finding defective http://www.wormbase.org/db/gene/strain?name=AF16;class=Strain VT847 James Malone Strain of C. briggsae defined as having biofilm absent head (Bah). http://www.wormbase.org/db/gene/strain?name=VT847;class=Strain HK104 James Malone Strain of C. briggsae http://www.wormbase.org/db/gene/strain?name=HK104;class=Strain EM464 James Malone Strain of C. remanei described as having biofilm absent head (Bah). http://www.wormbase.org/db/gene/strain?name=EM464;class=Strain SB146 James Malone Strain of R. remanei http://www.wormbase.org/db/gene/strain?name=SB146;class=Strain DF5033 James Malone Strain of O dolichura, collected by a Belgian expedition to the Galapagos archipelago. http://www.wormbase.org/db/gene/strain?name=DF5033;class=Strain DF5018 James Malone Strain of O. dolichuroides, Isolated by W. Sudhaus in April 1978 from decaying matter in a hole in a tree in Malindi, Kenya. http://www.wormbase.org/db/gene/strain?name=DF5018;class=Strain EM435 James Malone Strain of O. myriophila, isolated by D. Fitch in June 1990 from soil in Scott Emmons' compost heap in the Fort Greene section of Brooklyn, NY. A second strain, DF5038, was isolated from the same location one year later from the head and ventral segments of a male pill bug (Armadillidium vulgare). Hermaphroditic. Males are easily isolated by heat shocking L4 or early adult hermaphrodites at 30C for 6-12 hrs. Grows well at 6-25C on OP50. Dauer larvae accumulate under starved or overcrowded conditions. Freezes easily using C. elegans protocols with 90% viability. Previously called Rhabditis sp. See also WBPaper00003418. http://www.wormbase.org/db/gene/strain?name=EM435;class=Strain CEW1 James Malone Strain of O. tipulae, isolated in 1991 by Carlos E. Winter in soil samples taken at the University of Sao Paulo in Brazil. Hermaphrodite strain. Adults are 1.5mm. The life cycle is a little longer than C. elegans at 22C. Each lays about 300 eggs in the three days following the moult from L4 to adult. Eggs are laid just after being fertilized resulting sometimes in plates with many eggs (much more than C. elegans). See Comp. Biochem. Physiol 103B: 189, 1992. See Nematology 2(1): 89-98, 2000. Can be grown and maintained on NGM. L1s easily frozen and stored in liquid nitrogen. http://www.wormbase.org/db/gene/strain?name=CEW1;class=Strain AA120 Strain of C. elegans. http://www.wormbase.org/db/gene/strain?name=AA120;class=Strain CB66 James Malone Strain of C. elegans, remarked as a "twitcher". http://www.wormbase.org/db/gene/strain?query=CB66;class=Strain CB120 James Malone Strain of C. elegans, remarked as uncoordinated and may contain a weak daf-2 mutation (sa875). http://www.wormbase.org/db/gene/strain?query=%20CB120;class=Strain CB155 James Malone http://www.wormbase.org/db/gene/strain?name=CB155;class=Strain CB189 Strain of C. elegans, remarked as Coiler Unc, severe, recessive. http://www.wormbase.org/db/gene/strain?query=CB189;class=Strain CB205 James Malone Strain of C. elegans, remarked as growth slow, Unc and small, revertible. http://www.wormbase.org/db/gene/strain?query=CB205;class=Strain CB306 James Malone Strain of C. elegans Levamisole resistant, recessive, Kinky Unc. http://www.wormbase.org/db/gene/strain?query=CB306;class=Strain CB1370 James Malone Strain of C. elegans, remarked as temperature sensitive dauer constitutive, maintan at 15C, 100% dauers at 25C. 15% dauer formation at 20C. Long-lived. http://www.wormbase.org/db/gene/strain?name=CB1370;class=Strain DR20 C. elegans strain remarked as defective dauer formation. Hermaphrodites accumulate oocytes. Males mate poorly. James Malone http://www.wormbase.org/db/gene/strain?query=DR20;class=Strain DR26 James Malone Strain of C. elegans, described as Dauer defective-leaky. Somewhat small. Suppresses daf-2. http://www.wormbase.org/db/gene/strain?name=DR26;class=Strain DR40 C. elegans, described as temperature sensitive dauer constitutive. 100% dauers at 25C. Dauer recovery poor at 15C. Maternal effect. Egg retainer. James Malone http://www.wormbase.org/db/gene/strain?query=DR40;class=Strain DR47 C. elegans strain, described as temperature sensitive, leaky at 25C. Dauers recover poorly at 15C. Dauers escape plates. Recessive. Chemotaxis defective (Na+) James Malone http://www.wormbase.org/db/gene/strain?query=DR47;class=Strain DR1564 C. elegans strain, described as temperature-sensitive dauer-consitutive, long-lived, intrinsically thermotolerant. Adults slightly shorter than adults of other daf-2 alleles. Up to 6% of L1s arrest at 25.5C. Makes nearly 100% dauers at 25C, 0% dauers at 15C. Good recovery of dauers at 15C. James Malone http://www.wormbase.org/db/gene/strain?query=DR1564;class=Strain DR1567 James Malone Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt). http://www.wormbase.org/db/gene/strain?query=DR1567;class=Strain DR1572 Strain of C. elegans, described as Class 1 allele of daf-2. Temperature sensitive Daf-c. Adults are long-lived (Age) and exhibit extrinsic thermotolerance (Itt). http://www.wormbase.org/db/gene/strain?name=DR1572;class=Strain GR1307 C. elegans strain, described as deficiency completely eliminates daf-16 coding region. Makes partial dauers on pheromone. James Malone http://www.wormbase.org/db/gene/strain?name=GR1307;class=Strain JT709 C. elegans strain described as Daf-c at 27C. Weakly Egl and Clumpy. James Malone http://www.wormbase.org/db/gene/strain?name=JT709;class=Strain SS149 C. elegans strain. Remarks include: the embryos from homozygous mutant mothers display defects in the unequal cell divisions of P2 and P3, defects in partitioning of germ granules during these divisions, and defects in formation of the germ-line precursor cell P4. The embryos that lack P4 develop into sterile adults. These defects are incompletely expressed and sensitive to temperature. Homozygous mothers produce about 10% sterile progeny at 16C and 70% sterile progeny at 25C. The temperature sensitive period is early in embryogenesis, from fertilization to about the 28-cell stage. James Malone http://www.wormbase.org/db/gene/strain?name=SS149;class=Strain MQ887 C. elegans strain, described as having slow development and behavior. James Malone http://www.wormbase.org/db/gene/strain?name=MQ887;class=Strain TK22 C. elegans strain, described as Methylviologen (paraquat) sensitive, oxygen sensitive and having a short life span. James Malone http://www.wormbase.org/db/gene/strain?name=TK22;class=Strain VC199 C. elegans strain, described as Superficially wild type. This strain was provided by the C. elegans Reverse Genetics Core Facility at UBC, which is part of the International C. elegans Gene Knockout Consortium James Malone http://www.wormbase.org/db/gene/strain?query=VC199;class=Strain CB4858 James Malone Strain of C. elegans. http://www.wormbase.org/db/gene/strain?name=CB4858;class=Strain scanned image An image prodcued as the result of a scan, such as a medical scanner or array scanner. James Malone data file A file stored for use on a computer containing data. James Malone computer data file electronic data file processed array data file A data file containing array data which has been processed in some way using a data transformation. derived array data file MAGE-TAB array data matrix file An array data file which has been transformed into a matrix format as defined by MAGE-TAB specification. James Malone array data file A data file which contains data produced as the result of running an array. James Malone derived MAGE-TAB array data matrix file AMAGE-TAB array data matrix file which has been transformed using some data processing/transformation method. james Malone interleukin An interleukin is a multifunctional cytokine produced by leukocytes for regulating immune responses. James Malone validation type Dani Welter Type of factor that can be used in the Atlas database seq_library_strategy Dani Welter Sequencing library strategy permitted in Atlas true seq file type Dani Welter Sequencing file type permitted in Atlas true seq_library_source Dani Welter Sequencing library source permitted in Atlas true seq_library_selection Dani Welter Sequencing library selection permitted in Atlas true seq instrument model Dani Welter Sequencing instrument model included in Atlas true Atlas Quality Control type Dani Welter Quality control type permitted in Atlas true Atlas experiment type Dani Welter Experiment type permitted in Atlas true obsolete_factor type Dani Welter Factor type permitted in Atlas true 2.29 query class, this will be replaced by dynamic query in software that uses it validation flag Dani Welter Flag to mark any term permitted in Atlas true seq file type flag Dani Welter Flag for Atlas sequencing file types true seq library strategy flag Dani Welter Flag for Atlas sequencing library strategies true seq library source flag Dani Welter Flag for Atlas sequencing library sources true seq library selection flag Dani Welter Flag for Atlas sequencing library selections true seq instrument model flag Dani Welter Flag for Atlas sequencing instrument models true QC type flag Dani Welter Flag for Atlas quality control types true Atlas experiment type flag Dani Welter Flag for Atlas experiment types true factor type flag Dani Welter Flag for Atlas factor types true AE experiment type flag Dani Welter Flag for ArrayExpres experiment types true ArrayExpress experiment type Dani Welter Experiment type permitted specifically in ArrayExpress true obsolete_achondroplasia OMIM:100800 use 'http://www.orphanet.org/rdfns#pat_id_148' instead. New Label : Achondroplasia true 2.32 http://purl.org/obo/owl/DOID#DOID_4480 obsolete_neurofibromatosis type II true neurofibromatosis type 2 use 'http://www.orphanet.org/rdfns#pat_id_182' instead. New Label : Neurofibromatosis type 2 2.32 OMIM:101000 MSH:DO16518 acrocephalosyndactylia A synostosis that results in craniosynostosis and syndactyly. OMIM:101600 MSH:D000168 OMIM:101200 OMIM:101400 Darier's disease OMIM:101900 MSH:D007644 Keratosis follicularis DOID:2734 growth hormone-secreting pituitary adenoma OMIM:102200 MSH:D049912 DOID:6255 Adie syndrome OMIM:103100 tonic pupil MSH:D015845 DOID:11549 hyperthyroxinemia MSH:D006981 OMIM:103600 DOID:2855 nephritis, hereditary MSH:104200 MSH:D009394 familial amyloid neuropathy The familial amyloid neuropathies are a rare group of autosomal dominant neuropathies of autonomic and peripheral nerves. OMIM:105210 MSH:D028227 Diamond-Blackfan anemia OMIM:105650 Diamond–Blackfan anemia (DBA), is a congenital erythroid aplasia that usually presents in infancy and results in low red blood cell counts (anemia). MSH:D029503 obsolete_Angelman syndrome true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_90' instead. New Label : Angelman syndrome MSH:D054179 OMIM:106100 obsolete_aniridia true OMIM:106210 MSH:D015783 use 'http://www.orphanet.org/rdfns#pat_id_6018' instead. New Label : Aniridia 2.32 angioedemas, hereditary tumor size James Malone The physical size of a tumor. size of tumor obsolete_Machado-Joseph disease duplicate of class http://www.orphanet.org/rdfns#pat_id_13774 true OMIM:109150 DOID:1440 Spinocerebellar ataxia type 3 (SCA3) Machado–Joseph disease (MJD) is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities web:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease MSH:D017827 Azorean disease 2.33 obsolete_basal cell nevus syndrome true OMIM:109400 NLM MedlinePlus MSH:D001478 use 'http://www.orphanet.org/rdfns#pat_id_207' instead. New Label : Gorlin syndrome 2.32 Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a higher risk of skin cancers. obsolete_epidermolytic hyperkeratosis OMIM:113800 bullous ichthyosiform erythroderma A rare skin disease which involves the clumping of keratin filaments and initally presents as a fragile layer of skin which blisters on touch ofen followed by scaling of the skin. use 'http://www.orphanet.org/rdfns#pat_id_2079' instead. New Label : Epidermolytic ichthyosis MSH:D0017488 true 2.32 bullous congenital ichthyosiform erythroderma bundle branch block OMIM:113900 James Malone bundle-branch block derived from wikipedia http://en.wikipedia.org/wiki/Bundle_branch_block MSH:D0002037 A bundle branch block refers to a defect of the heart's electrical conduction system in which the bundle branch may cease to conduct electrical impulses appropriately. This results in altered pathways for ventricular depolarization. Since the electrical impulse can no longer use the preferred pathway across the bundle branch, it may move instead through muscle fibers in a way that both slows the electrical movement and changes the directional propagation of the impulses. As a result, there is a loss of ventricular synchrony, ventricular depolarization is prolonged, and there may be a corresponding drop in cardiac output. When heart failure is present, a specialized pacemaker may be used to resynchronize the ventricles obsolete_Caffey disease 2.32 DOID:4257 use 'http://www.orphanet.org/rdfns#pat_id_431' instead. New Label : Caffey disease A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has_symptom soft-tissue swelling, has_symptom bone lesions, and has_symptom irritability. true congenital cortical hyperostosis James Malone OMIM:114000 MSH:D006958 obsolete_campomelic dysplasia DOID:0050463 acampomelic campomelic dysplasia true OMIM:114290 2.32 MSH:D055036 use 'http://www.orphanet.org/rdfns#pat_id_933' instead. New Label : Campomelic dysplasia An osteochondrodysplasia that is caused by a mutation in chromosome 17 which results in bowing in the tibia or femur. obsolete_perineum Subdivision of trunk proper, which is demarcated from the pelvis by the inferior surface of the pelvic diaphragm and from the lower limbs by the perineofemoral lines; together with the thorax, and abdomen, it constitutes the trunk proper. Perineum includes the anal and urinary genital region. 2.38 Use http://purl.obolibrary.org/obo/UBERON_0002356 label: perineum FMA:9579 true colorectal neoplasm James Malone OMIM:114500 MSH:D015179 uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix. carpal tunnel syndrome OMIM:115430 Carpal Tunnel Syndrome (CTS) is an entrapment idiopathic median neuropathy, causing paresthesia, pain, and other symptoms in the distribution of the median nerve due to its compression at the wrist in the carpal tunnel. DOID:12169 MSH:D002349 web: http://en.wikipedia.org/wiki/Carpal_tunnel_syndrome acatalasia MSH:D020642 Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase. The disorder is relatively benign, although it causes an increased incidence of periodontal infections, and can under rare circumstances lead to gangrene. DOID:2582 OMIM:115500 web:http://en.wikipedia.org/wiki/Acatalasia myopathy DOID:423 A muscular disease in which the muscle fibers do not function resulting in muscular weakness. MSH:D009135 obsolete_central core myopathy duplicate of class http://www.orphanet.org/rdfns#pat_id_65 true DOID:3529 Central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder) which presents commonly with hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation. James Malone MSH:D020512 central core disease derived from wikipedia http://en.wikipedia.org/wiki/Central_core_disease 2.33 OMIM:117000 obsolete_Sotos syndrome true OMIM:601451 OMIM:117550 2.32 A genetic disorder that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. DOID:14748 use 'http://www.orphanet.org/rdfns#pat_id_588' instead. New Label : Sotos syndrome MSH:D058495 obsolete_Charcot-Marie-Tooth disease 2.32 OMIM:118220 OMIM:118200 use 'http://www.orphanet.org/rdfns#pat_id_637' instead. New Label : Charcot-Marie-Tooth disease DOID:10595 MSH:D015417 true MSH:D002607 neuropathy DOID:870 A nervous system disease that is located in the nervous system. obsolete_cherubism 2.32 MSH:D002636 use 'http://www.orphanet.org/rdfns#pat_id_996' instead. New Label : Cherubism true DOID:1856 OMIM:118400 obsolete_Alagille syndrome OMIM:610205 OMIM:118450 2.32 DOID:9245 use 'http://www.orphanet.org/rdfns#pat_id_253' instead. New Label : Alagille syndrome MSH:D016738 true Alagille-Watson syndrome chorea DOID:12859 Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. MSH:D002819 choreia OMIM:118700 obsolete_cleidocranial dysplasia use 'http://www.orphanet.org/rdfns#pat_id_443' instead. New Label : Cleidocranial dysplasia 2.32 MSH:D002973 An osteochondrodysplasia that is caused by mutations in the RUNX2 gene which results in underveloped or absent clavicle along with delayed closing of fontanels in the skull. DOID:13994 true OMIM:119600 Sequence Read Format (SRF) Sequence Read file forma is a generic format for DNA sequence data capable of storing data generated by any DNA sequencing technology. srf FASTQ format FASTQ format is a text-based format for storing both a biological sequence (usually nucleotide sequence) and its corresponding quality scores. Standard Flowgram Format (SFF) Standard flowgram format (SFF) is a binary file format used to encode results of pyrosequencing from the 454 Life Sciences platform for high-throughput sequencing. BAM format BAM is the compressed binary version of the Sequence Alignment/Map (SAM) format random RNA-Seq across whole transcriptome RNA-SEQ (Random sequencing of whole transcriptome) Random RNA-Seq SOLiD native csfasta format whole chromosome random sequencing Whoel chromosome random sequencing WCS (Random sequencing of a whole chromosome or other replicon isolated from a genome) finishing sequencing assay FINISHING (Sequencing intended to finish (close) gaps in existing coverage) A sequencing assay which has been used to finish the sequence of an organism or sample, i.e. to finish (close) gaps in existing coverage James Malone Finishing sequencing assay CTS (Concatenated Tag Sequencing) CTS (Concatenated Tag Sequencing) SOLiD native qual format Illumina native qseq format Illumina native scarf format Illumina native fastq format RAPD random PCR random amplification of polymorphic DNA RAPD is a type of PCR reaction in which the segments of DNA are amplified at random using randomly generated primers. James Malone hypomethylated partial restriction digest HMPR methyl filtration James Malone MF Methyl-filtration is a cloning strategy that enriches for the coding regions of the genome nucleic acid sequencing protocol Anna Farne A protocol describing the processes performed and equipment used to determine the order of nucleotide bases in a nucleic acid sample cot filtration for single or low copy genomic DNA CF-S (Cot-filtered single/low-copy genomic DNA) James Malone A type of cot filtration in which single/low copy sequences and the repetitive sequences of a genome to be studied independently of each other. cot filtration for moderately repetitive genomic DNA CF-M (Cot-filtered moderately repetitive genomic DNA) A type of cot filtration in which moderately repetitive sequences and highly repetitive sequences of a genome can be separated to be studied independently of each other. cot filtration for highly repetitive genomic DNA CF-H (Cot-filtered highly repetitive genomic DNA) cot filtration for theoretical single copy genomic DNA CF-T (Cot-filtered theoretical single-copy genomic DNA) Methylation Spanning Linker Library (MSLL) processing MSLL (Methylation Spanning Linker Library) James Malone Yuan et al (2002) Methylation-Spanning Linker Libraries Link Gene-Rich Regions and Identify Epigenetic Boundaries in Zea mays. Genome Res. 2002. 12: 1345-1349 Methylation-spanning linker library (MSLL) processing uses clones which span large methylated DNA blocks and thereby link unmethylated genic regions. ChIP James Malone Chromatin Immunoprecipitation Chromatin Immunoprecipitation (ChIP) is an experimental process used to investigate the interaction between proteins and DNA in the cell via the immunoprecipitation of transcriptionally active chromatin from mammalian cells. Micrococcal Nuclease digestion MNase (Micrococcal Nuclease (MNase) digestion) MNAse Micrococcal Nuclease digestion is the process of using an endo-exonuclease in order to digest single-stranded and double-stranded nucleic acids and RNA. James Malone reduced representation preparation Modified from SRA James Malone An experimental process for producing a reduced target genome often generated by restriction fragment size selection, containing a manageable number of loci to facilitate re-sampling. restriction digest James Malone A restriction digest is an experimental process used to prepare DNA for analysis or other processing by the use of restriction enzymes to cleave DNA at desired sites for extraction. DNA selection through 5-methylcytidine antibody James Malone An experimental process for selecting DNA which uses 5-methylcytidine antibody. cap analysis gene expression CAGE http://www.pnas.org/content/100/26/15776 Cap analysis gene expression (CAGE) is an experimental process which allows high-throughput identification of sequence tags corresponding to 5′ ends of mRNA at the cap sites and the identification of the transcriptional starting point (TSP). James Malone CAGE (cap analysis gene expression) Rapid Amplification of cDNA Ends Rapid Amplification of cDNA Ends (RACE) is an experimental process used to obtain the full length sequence of an RNA transcript found within a cell. RACE produces a cDNA copy of the RNA through reverse transcription which is amplified and sequenced. James Malone RACE size fractionation Size fractionation is a process of selecting targets based on their size. James Malone size fractionation (Physical selection of size appropriate targets) nucleic acid library construction protocol A protocol describing the processes performed and equipment used to prepare nucleic acid sequencing library. Natalja Kurbatova enrichment of methylated DNA http://www.millipore.com/catalogue/item/17-10035&cid=BIOS-A-EPIG-10013-1102-RC Enrichment by methyl-CpG binding domain MBD2 protein methyl-CpG binding domain Natalja Kurbatova The isolation and enrichment of methylated DNA by using methyl CpG binding proteins, MBD2b protein in particular. Methylation of cytosines located 5' to guanosine is known to have a profound effect on the expression of many eukaryotic genes. In normal cells methylation occurs predominantly in CG-poor regions, while CG-rich areas, called CpG-islands remain unmethylated. The exceptions are the extensive methylation of CpG islands associated with transcriptional inactivation of regulatory regions of imprinted genes and genes on the inactive X-chromosome of females. Aberrant methylation of normally unmethylated CpG islands has been documented as a relatively frequent event in immortalized and transformed cells and has been associated with transcriptional inactivation of defined tumor suppressor genes in human cancers. To evalute the methylation status of either a specific locus or an entire genome, the isolation and enrichment of methylated DNA can be a useful first step. A high-affinity GST-MBD protein pre-bound to a magnetic bead is used to enable this enrichement (Fraga M.F., et al. (2003). Nuc. Acids Res, 31, 1765–1774). Deoxyribonuclease digestion DNAse Natalja Kurbatova DNAse (Deoxyribonuclease (MNase) digestion) Deoxyribonuclease digestion is the process of using an exodeoxyribonuclease or an endodeoxyribonuclease in order to digest single-stranded and double-stranded DNA. cDNA library construction http://dwb.unl.edu/Teacher/NSF/C08/C08Links/www.dur.ac.uk/~dbl0www/Staff/Croy/cDNAfigs.htm cDNA cDNA library is created from a mature mRNAs from eukaryotic cells with the use of an enzyme known as reverse transcriptase. complementary DNA Natalja Kurbatova hybrid selection of targets hybrid selection http://www.genomics.agilent.com/generica.aspx?pagetype=science&subpagetype=review&pageid=25&reviewid=46 Natalja Kurbatova The method of preparation of sequencing templates that are enriched for targeted regions of the genome by hybridization in array or solution. DNA shearing DNA shearing is an experimental process used to prepare DNA for analysis or other processing by the use of mechanical instruments to randomly cleave DNA. DNA is sheared to the desired fragment range. For instance, physical shearing can be done by probe sonication and nebulization. http://www.epigentek.com/catalog/episonic-multi-functional-bioprocessor-1000-p-1872.html?currency=gb&height=180&width=500&border=1&modal=true&random=1322838086494 Natalja Kurbatova RANDOM Random selection by shearing open-angle glaucoma Dani Welter Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris. MSH:D005902 glaucoma (primary open-angle) glaucoma, open-angle true androgenetic alopecia Dani Welter MSH:D000505 alopecia, androgenetic alopecia, male pattern male pattern baldness male-pattern baldness true alopecia areata A microscopically inflammatory, usually reversible, patchy hair loss occurring in sharply defined areas and usually involving the beard or scalp. (Dorland, 27th ed). Dani Welter MSH:D000506 true basal cell carcinoma A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471). Dani Welter MSH:D002280 carcinoma, basal cell true IGA glomerulonephritis A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease. Berger Disease Berger's Disease Dani Welter Glomerulonephritis, IGA IGA Nephropathy Immunoglobulin A Nephropathy MSH:D005922 Nephropathy, IGA true LDL cholesterol High-density lipoprotein cholesterol LDL lipoproteins Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol. MSH:D008077 MSH:D008078 High-density lipoproteins Dani Welter lipoproteins, LDL cholesterol, LDL true viral human hepatitis infection Dani Welter INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission ( HEPATITIS A; HEPATITIS E) or blood transfusion ( HEPATITIS B; HEPATITIS C; and HEPATITIS D). MSH:D006525 hepatitis, viral, human hepatitis B infection Dani Welter INFLAMMATION of the LIVER in humans caused by a member of the ORTHOHEPADNAVIRUS genus, HEPATITIS B VIRUS. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. MSH:D006509 hepatitis B, chronic true viral hepatitis B skin neoplasm Dani Welter MSH:D012878 Tumors or cancer of the SKIN. cancer of the skin skin cancer skin neoplasms dysplastic nevus Clinically atypical nevi (usually exceeding 5 mm in diameter and having variable pigmentation and ill defined borders) with an increased risk for development of non-familial cutaneous malignant melanoma. Biopsies show melanocytic dysplasia. Nevi are clinically and histologically identical to the precursor lesions for melanoma in the B-K mole syndrome. (Stedman, 25th ed) Dani Welter MSH:D004416 dysplastic nevi dysplastic nevus syndrome nevus syndrome, dysplastic true Illumina Genome Analyzer A DNA sequencer developed by Illumina. Illumina Genome Analyzer II A DNA sequencer developed by Illumina. Illumina Genome Analyzer IIx A DNA sequencer developed by Illumina. Illumina HiSeq 2000 Illumina HiSeq 1000 Illumina MiSeq 454 GS 20 sequencer The 454 GS 20 is a GS20 high-throughput sequencing machine developed by 454 Life Sciences. pathological myopia Dani Welter Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS. MSH:D047728 degenerative myopia myopia (pathological) myopia, pathological progressive myopia true Vitiligo A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. Dani Welter MSH:D014820 true obsolete_Hypospadias A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA. Dani Welter MSH:D007021 true Use familial hypospadias instead http://www.orphanet.org/rdfns#pat_id_3299 2.32.2 true gallstones Biliary Calculi Dani Welter Gall Stone Gall Stones MSH:D042882 Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin. true Hypertriglyceridemia A condition of elevated levels of TRIGLYCERIDES in the blood. Dani Welter MSH:D015228 true Keloid A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues. Dani Welter MSH:D007627 true Otosclerosis Dani Welter Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs. MSH:D010040 otospongiosis true Abdominal Aortic Aneurysm An abnormal balloon- or sac-like dilatation in the wall of the ABDOMINAL AORTA which gives rise to the visceral, the parietal, and the terminal (iliac) branches below the aortic hiatus at the diaphragm. Aortic Aneurysm, Abdominal Dani Welter MSH:D017544 true anorexia nervosa An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994). Dani Welter MSH:D000856 true conduct disorder A repetitive and persistent pattern of behavior in which the basic rights of others or major age-appropriate societal norms or rules are violated. These behaviors include aggressive conduct that causes or threatens physical harm to other people or animals, nonaggressive conduct that causes property loss or damage, deceitfulness or theft, and serious violations of rules. The onset is before age 18. (From DSM-IV, 1994). Dani Welter MSH:D019955 conduct dis true obsolete_Biliary atresia Atresia, Biliary Biliary Atresia, Extrahepatic Dani Welter Familial Extrahepatic Biliary Atresia Idiopathic Extrahepatic Biliary Atresia MSH:D001656 Progressive destruction or the absence of all or part of the extrahepatic BILE DUCTS, resulting in the complete obstruction of BILE flow. Usually, biliary atresia is found in infants and accounts for one third of the neonatal cholestatic JAUNDICE. true 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_8781' instead. New Label : Biliary atresia marijuana dependence Cannabis Abuse Cannabis Dependence Cannabis-Related Disorder Dani Welter Hashish Abuse MSH:D002189 Marihuana Abuse Marijuana Dependence The excessive use of marijuana with associated psychological symptoms and impairment in social or occupational functioning. true marijuana abuse cannabis use CD8-Positive T-Lymphocytes A critical subpopulation of regulatory T-lymphocytes involved in MHC Class I-restricted interactions. They include both cytotoxic T-lymphocytes ( T-LYMPHOCYTES, CYTOTOXIC) and CD8+ suppressor T-lymphocytes. CD8-Positive Lymphocytes Dani Welter MSH:D018414 Suppressor T-Cells, CD8-Positive Suppressor T-Lymphocytes, CD8-Positive T8 Lymphocytes T8 cells true Chronic Hepatitis C infection Dani Welter Hepatitis C, Chronic INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS. MSH:D019698 chronic hepatitis C chronic hepatitis C infection chronic hepatitis C with hepatic coma chronic type C viral hepatitis chronic viral hepatitis C true obsolete_External ear Dani Welter MSH:D004431 The outer part of the hearing system of the body. It includes the shell-like EAR AURICLE which collects sound, and the EXTERNAL EAR CANAL, the TYMPANIC MEMBRANE, and the EXTERNAL EAR CARTILAGES. earlobe earlobes outer ear true ear, external Use http://purl.obolibrary.org/obo/UBERON_0001691 label: external ear 2.38 true Astigmatism Dani Welter MSH:D001251 Unequal curvature of the refractive surfaces of the eye. Thus a point source of light cannot be brought to a point focus on the retina but is spread over a more or less diffuse area. This results from the radius of curvature in one plane being longer or shorter than the radius at right angles to it. (Dorland, 27th ed). true obsolete_Keratoconus A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary factors may play a role. The -conus refers to the cone shape of the corneal protrusion. (From Dorland, 27th ed). Dani Welter MSH:D007640 true true use 'http://www.orphanet.org/rdfns#pat_id_17093' instead. New Label : Keratoconus 2.32 Coronary Restenosis Dani Welter MSH:D023903 Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction. true Coronary Vasospasm Coronary Artery Vasospasm Coronary spasm Dani Welter MSH:D003329 Spasm of the large- or medium-sized coronary arteries. true Creutzfeldt Jacob Disease A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)). CJD Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Familial Creutzfeldt-Jakob Syndrome Dani Welter Familial Creutzfeldt-Jakob Disease MSH:D007562 Spongiform Encephalopathy, Subacute true Dengue Hemorrhagic Fever A virulent form of dengue characterized by THROMBOCYTOPENIA and an increase in vascular permeability (grades I and II) and distinguished by a positive pain test (e.g., TOURNIQUET PAIN TEST). When accompanied by SHOCK (grades III and IV), it is called dengue shock syndrome. Dani Welter Dengue Shock Syndrome Hemorrhagic Dengue Hemorrhagic Fever, Dengue MSH:D019595 Philippine Hemorrhagic Fever Singapore Hemorrhagic Fever Thai Hemorrhagic Fever true drug-induced liver injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment. Dani Welter Drug-Induced Liver Disease Hepatitis, Drug-Induced Hepatitis, Toxic Liver Injury, Drug-Induced MSH:D056486 Toxic Hepatitis true Dupuytren Contracture A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50. Dani Welter Dupuytren's Contracture Dupuytren's Disease MSH:D004387 true endometrial neoplasm Dani Welter MSH:D016889 Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells. cancer of endometrium cancer of the endometrium endometrial cancer endometrial carcinoma endometrial neoplasms endometrium cancer true obsolete_brachial artery Dani Welter MSH:D001916 The continuation of the axillary artery; it branches into the radial and ulnar arteries. true true 2.38 Use: http://purl.obolibrary.org/obo/UBERON_0001398 label: brachial artery eosinophilic esophagitis Chronic ESOPHAGITIS characterized by esophageal mucosal EOSINOPHILIA. It is diagnosed when an increase in EOSINOPHILS are present over the entire esophagus. The reflux symptoms fail to respond to PROTON PUMP INHIBITORS treatment, unlike in GASTROESOPHAGEAL REFLUX DISEASE. The symptoms are associated with IgE-mediated hypersensitivity to food or inhalant allergens. Dani Welter MSH:D057765 chronic esophagitis, eosinophilic true leukopenia Dani Welter MSH:D007970 decrease in no. of leukocytes leukocytopenia true erectile dysfunction Dani Welter MSH:D007172 The inability in the male to have a PENILE ERECTION due to psychological or organ dysfunction. impotence male impotence male sexual impotence true exfoliation syndrome Dani Welter Glaucoma Capsulare MSH:D017889 The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380) exfoliation glaucoma exfoliative syndrome pseudo-exfoliation syndrome pseudoexfoliation syndrome true focal segmental glomerulosclerosis A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE. Dani Welter MSH:D005923 glomerulonephritis, focal sclerosing glomerulosclerosis glomerulosclerosis, focal glomerulosclerosis, focal segmental true Graves disease A common form of hyperthyroidism with a diffuse hyperplastic GOITER. It is an autoimmune disorder that produces antibodies against the THYROID STIMULATING HORMONE RECEPTOR. These autoantibodies activate the TSH receptor, thereby stimulating the THYROID GLAND and hypersecretion of THYROID HORMONES. These autoantibodies can also affect the eyes ( GRAVES OPHTHALMOPATHY) and the skin (Graves dermopathy). Basedow disease Basedow's disease Dani Welter Graves' disease MSH:D006111 exophthalmic goiter true hearing loss A general term for the complete or partial loss of the ability to hear from one or both ears. Dani Welter MSH:D034381 hearing impairment true chronic hepatitis B infection Dani Welter INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. MSH:D019694 hepatitis B, chronic true heroin dependence Dani Welter MSH:D006556 Strong dependence, both physiological and emotional, upon heroin. heroin abuse heroin addiction true obsolete_Hirschsprung disease Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON. Dani Welter Hirschsprung's disease MSH:D006627 colonic aganglionosis congenital megacolon true true 2.32 use 'http://www.orphanet.org/rdfns#pat_id_647' instead. New Label : Hirschsprung disease obsessive-compulsive disorder An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension. Dani Welter MSH:D009771 OCD true carcinoid tumor A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182). Dani Welter MSH:D002276 argentaffinoma carcinoid ileal carcinoid ileal carcinoids true interstitial lung disease A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features. Dani Welter MSH:D017563 lung disease, interstitial lung diseases, interstitial true obsolete_iris Dani Welter MSH:D007498 The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium. true Use http://purl.obolibrary.org/obo/UBERON_0001769 2.38 true mucocutaneous lymph node syndrome An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities. Dani Welter Kawasaki disease Kawasaki syndrome MSH:D009080 true mood disorder Dani Welter MSH:D019964 Those disorders that have a disturbance in mood as their predominant feature. affective disorders major mood disorders mood disorders true male infertility Dani Welter MSH:D007248 The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. infertility, male male sterility sterility, male true meningococcal infection Dani Welter Infections with bacteria of the species NEISSERIA MENINGITIDIS. MSH:D008589 infections, meningococcal meningococcal disease meningococcal infections true obsolete_Moyamoya disease A noninflammatory, progressive occlusion of the intracranial CAROTID ARTERIES and the formation of netlike collateral arteries arising from the CIRCLE OF WILLIS. Cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. It is characterized by endothelial HYPERPLASIA and FIBROSIS with thickening of arterial walls. This disease primarily affects children but can also occur in adults. Dani Welter MSH:D009072 Moya-Moya disease Moyamoya syndrome cerebrovascular Moyamoya disease progressive intracranial occlusive arteropathy (Moyamoya) true use 'http://www.orphanet.org/rdfns#pat_id_2373' instead. New Label : Moyamoya disease true 2.32 myeloproliferative disorder Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE. Dani Welter MSH:D009196 myeloproliferative disorders myeloproliferative neoplasms true nasopharyngeal neoplasm Dani Welter MSH:D009303 Tumors or cancer of the NASOPHARYNX. nasopharyngeal cancer nasopharyngeal carcinoma nasopharyngeal neoplasms true nephrolithiasis Dani Welter Formation of stones in the KIDNEY. MSH:D053040 true membranous glomerulonephritis A type of glomerulonephritis that is characterized by the accumulation of immune deposits ( COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane. Dani Welter Heymann nephritis MSH:D015433 glomerulonephritis, membranous idiopathic membranous nephropathy membranous glomerulonephropathy nephropathy (idiopathic membranous) true nephrotic syndrome MSH:D009404 nephrotic syndrome (acquired) true A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction. Dani Welter neuromyelitis optica A syndrome characterized by acute OPTIC NEURITIS in combination with acute MYELITIS, TRANSVERSE. Demyelinating and/or necrotizing lesions form in one or both optic nerves and in the spinal cord. The onset of optic neuritis and myelitis may be simultaneous or separated by several months. (J Neurol Neurosurg Psychiatry 1996 Apr;60(4):382-387). Dani Welter MSH:D009471 true Devic's syndrome Devic syndrome Devic disease Devic's disease neurotic disorder Dani Welter Disorders in which the symptoms are distressing to the individual and recognized by him or her as being unacceptable. Social relationships may be greatly affected but usually remain within acceptable limits. The disturbance is relatively enduring or recurrent without treatment. MSH:D009497 neuroses neurotic disorders neuroticism true optic nerve Dani Welter MSH:D009900 The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system. second cranial nerve true osteonecrosis Dani Welter Death of a bone or part of a bone, either atraumatic or posttraumatic. MSH:D010020 aseptic necrosis of bone avascular necrosis of bone bone disease Dani Welter Diseases of BONES. MSH:D001847 osteitis deformans A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry. Dani Welter MSH:D010001 Paget disease (bone) Paget's disease (bone) true panic disorder A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait. Dani Welter MSH:D016584 panic attack panic attacks true partial epilepsy Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317). Dani Welter MSH:D004828 epilepsies, partial partial epilepsies true vascular disease Dani Welter MSH:D014652 Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. true vascular diseases peripheral arterial disease Dani Welter Lack of perfusion in the EXTREMITIES resulting from atherosclerosis. It is characterized by INTERMITTENT CLAUDICATION, and an ANKLE BRACHIAL INDEX of 0.9 or less. MSH:D058729 peripheral arterial diseases peripheral artery disease true primary ovarian insufficiency Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. Dani Welter MSH:D016649 premature ovarian failure resistant ovary syndrome true biliary liver cirrhosis Dani Welter FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow ( CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts ( BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes. MSH:D008105 biliary cirrhosis primary biliary cirrhosis true sclerosing cholangitis Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS. Dani Welter MSH:D015209 cholangitis, sclerosing primary sclerosing cholangitis true cardiac arrhythmia Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction. Dani Welter MSH:D001145 arrhythmia arrhythmias, cardiac arrythmia cardiac arrhythmias true restless legs syndrome A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep. Complying with an irresistible urge to move the affected limbs brings temporary relief. Sleep may become disrupted, resulting in excessive daytime hypersomnolence. This condition may be associated with UREMIA; DIABETES MELLITUS; and rheumatoid arthritis. Restless Legs Syndrome differs from NOCTURNAL MYOCLONUS SYNDROME in that in the latter condition the individual does not report adverse sensory stimuli and it is primarily a sleep-associated movement disorder. (Adams et al., Principles of Neurology, 6th ed, p387; Schweiz Rundsch Med Prax 1997 Apr 30;86(18):732-736). Dani Welter Ekbom syndrome Ekbom's syndrome MSH:D012148 restless legs true retinal vein Central retinal vein and its tributaries. It runs a short course within the optic nerve and then leaves and empties into the superior ophthalmic vein or cavernous sinus. Dani Welter MSH:D012169 central retinal vein true anemia A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. Dani Welter MSH:D000740 true iron deficiency scoliosis An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) Dani Welter MSH:D012600 true gout Dani Welter Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. MSH:D006073 true obsolete_sick sinus syndrome A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation ( CARDIAC SINUS ARREST) and impulse conduction ( SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects. Dani Welter MSH:D012804 true use 'http://www.orphanet.org/rdfns#pat_id_17628' instead. New Label : Sick sinus syndrome true 2.32 Stevens-Johnson syndrome A variant of bullous erythema multiforme. It ranges from mild skin and mucous membrane lesions to a severe, sometimes fatal systemic disorder. Ocular symptoms include ulcerative conjunctivitis, keratitis, iritis, uveitis, and sometimes blindness. The cause of the disease is unknown. Dani Welter MSH:D013262 true brain infarction ANTERIOR CEREBRAL CIRC INFARCT ANTERIOR CIRC BRAIN INFARCT ANTERIOR CIRC INFARCT BRAIN Anterior Cerebral Circulation Infarction Anterior Circulation Brain Infarction Anterior Circulation Infarction, Brain BRAIN INFARCT BRAIN INFARCT ANTERIOR CIRC BRAIN INFARCT POSTERIOR CIRC BRAIN INFARCT VENOUS Brain Infarction Brain Infarction, Anterior Circulation Brain Infarction, Posterior Circulation Brain Infarction, Venous Brain Infarctions Brain Infarctions, Venous Brain Venous Infarction Brain Venous Infarctions Dani Welter INFARCT ANTERIOR CEREBRAL CIRC INFARCT ANTERIOR CIRC BRAIN INFARCT BRAIN ANTERIOR CIRC INFARCT BRAIN POSTERIOR CIRC INFARCT LACUNAR INFARCT POSTERIOR CIRC BRAIN Infarction, Anterior Cerebral Circulation Infarction, Anterior Circulation, Brain Infarction, Brain Infarction, Brain Venous Infarction, Brain, Anterior Circulation Infarction, Brain, Posterior Circulation Infarction, Lacunar Infarction, Posterior Circulation, Brain Infarction, Venous Brain Infarctions, Brain Infarctions, Brain Venous Infarctions, Lacunar Infarctions, Venous Brain Lacunar Infarction Lacunar Infarctions MSH:D020520 POSTERIOR CIRC BRAIN INFARCT POSTERIOR CIRC INFARCT BRAIN Posterior Circulation Brain Infarction Posterior Circulation Infarction, Brain Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis. VENOUS INFARCT BRAIN Venous Brain Infarction Venous Brain Infarctions Venous Infarction, Brain Venous Infarctions, Brain true sudden cardiac arrest Dani Welter MSH:D016757 Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005) death, sudden, cardiac sudden cardiac death true Change to current cardiac arrthymia parent requested and confirmed as a correct use of is-a by James Ware, cardiac expert. suntan An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors. Dani Welter MSH:D055107 true movement disorder Dani Welter MSH:D009069 Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions. movement disorders tardive dyskinesia true testicular neoplasm Dani Welter MSH:D013736 Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms. testicular cancer testicular germ cell cancer testicular germ cell tumor testicular neoplasms true thoracic aortic aneurysm An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm. Dani Welter MSH:D017545 aortic aneurysm, thoracic true goiter Dani Welter Enlargement of the THYROID GLAND that may increase from about 20 grams to hundreds of grams in human adults. Goiter is observed in individuals with normal thyroid function (euthyroidism), thyroid deficiency ( HYPOTHYROIDISM), or hormone overproduction ( HYPERTHYROIDISM). Goiter may be congenital or acquired, sporadic or endemic ( GOITER, ENDEMIC). MSH:D006042 true upper aerodigestive tract neoplasm Dani Welter MSH:D006258 Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651) cancer of head and neck head and neck neoplasms true upper aerodigestive tract cancers albuminuria Dani Welter MSH:D000419 The presence of albumin in the urine, an indicator of KIDNEY DISEASES. true urinary albumin excretion venous thromboembolism Dani Welter MSH:D054556 Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream. true ventricular fibrillation A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness ( SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST. Dani Welter MSH:D014693 true colonic neoplasm Dani Welter MSH:D003110 Tumors or cancer of the COLON. colon cancer colon neoplasm colonic cancer colonic neoplasms true lymphoid leukemia Dani Welter Leukemia associated with HYPERPLASIA of the lymphoid tissues and increased numbers of circulating malignant LYMPHOCYTES and lymphoblasts. Lymphoblastic Lymphoma Lymphoblastic leukaemia Lymphoma, Lymphoblastic Lymphomas, Lymphoblastic MSH:D007945 leukemia, lymphoid lymphocytic leukemia true sneezing Dani Welter MSH:D012912 The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT. true braces Dani Welter MSH:D001915 Orthopedic appliances used to support, align, or hold parts of the body in correct position. (Dorland, 28th ed). true vaccination Dani Welter MSH:D014611 Vaccination is: a process' that involves in adding vaccine into a host (e.g., human, mouse) in vivo with the intend to invoke a protective immune response. active immunization true obo:VO_0000002 recombination Dani Welter MSH:D011995 Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses. genetic recombination recombination, genetic true atrial function, left Dani Welter MSH:D016279 The hemodynamic and electrophysiological action of the LEFT ATRIUM. left atrial function true ventricular function, left Dani Welter MSH:D016277 The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance. left ventricular function true thyroid function Dani Welter NCIt:C2242456 Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body. true clinical laboratory measurement A clinical laboratory measurement is a measurement of some entity e.g. erythrocyte count which is used in the process of clinical diagnosis in human patients Dani Welter true clinical laboratory techniques cardiovascular measurement A cardiovascular measurement is a measurement of some part of the cardiovascular system and is typically used in the process of disease diagnosis in human patients. Dani Welter MSH:D003935 true cardiovascular diagnostic technique life expectancy Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live. Dani Welter MSH:D008017 true longevity Dani Welter MSH:D008136 The length of time of an organism's life. length of life true Combine with age, or move? blood viscosity Dani Welter MSH:D001809 The internal resistance of the BLOOD to shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such as SICKLE CELL ANEMIA andPOLYCYTHEMIA. true anthropometry Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body. Dani Welter MSH:D000886 anthropometric traits true vital signs Dani Welter MSH:D055986 The signs of life that may be monitored or measured, namely pulse rate, respiratory rate, body temperature, and blood pressure. true blood sedimentation Dani Welter MSH:D001799 Measurement of rate of settling of erythrocytes in anticoagulated blood. erythrocyte sedimentation erythrocyte sedimentation rate true erythrocyte count Dani Welter MSH:D004906 The number of red blood cells per unit volume in a sample of venous blood. erythrocyte number true red blood cell count RBC erythrocyte indices Dani Welter ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC). MSH:D004909 erythrocyte index erythrocyte indexes erythrocyte size determination red cell index red cell indices true glucose tolerance test A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg). Dani Welter MSH:D005951 true leukocyte count Dani Welter MSH:D007958 The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells. true white blood cell count white cell count WBC platelet count Dani Welter MSH:D010976 The number of PLATELETS per unit volume in a sample of venous BLOOD. blood platelet number true partial thromboplastin time Cephalin-Kaolin coagulation time Dani Welter MSH:D010314 The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy. activated partial thromboplastin time true heart function measurement Dani Welter cardiac function tests true A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis heart function tests vital capacity Dani Welter MSH:D014797 The volume of air that is exhaled by a maximal expiration following a maximal inspiration. true maximal midexpiratory flow rate Dani Welter MSH:D008450 Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%. true forced expiratory volume Dani Welter FEVt MSH:D005541 Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity. timed vital capacity true drinking behavior Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety. Dani Welter MSH:D004327 true exploratory behavior Dani Welter MSH:D005106 The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity. curosity novelty-seeking behavior true extraversion A state in which attention is largely directed outward from the self. Dani Welter MSH:D005120 extraversion (psychology) extroversion true smoking behavior Dani Welter Inhaling and exhaling the smoke of tobacco or something similar to tobacco. MSH:D012907 smoking true smoking cessation Dani Welter Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke. MSH:D016540 true suicidal ideation A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm. Dani Welter MSH:D059020 true suicide, attempted Dani Welter MSH:D013406 The unsuccessful attempt to kill oneself. attempted suicide true mental process Conceptual functions or thinking in all its forms. Dani Welter MSH:D008606 human information processing mental processes true body weights and measures Dani Welter MSH:D001837 Measurements of the height, weight, length, area, etc., of the human and animal body or its parts. body measures true blood pressure Dani Welter MSH:D001794 PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS. diastolic blood pressure diastolic pressure systolic blood pressure systolic pressure true heart rate Dani Welter MSH:D006339 The number of times the HEART VENTRICLES contract per unit of time, usually per minute. cardiac chronotropy pulse rate true electrocardiography Dani Welter EKG MSH:D004562 Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY. electrocardiogram true exercise test Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate. Dani Welter MSH:D005080 stress test true alcohol drinking Behaviors associated with the ingesting of alcoholic beverages, including social drinking. Dani Welter MSH:D000428 alcohol consumption true coffee consumption Behaviors associated with the ingesting of coffee Dani Welter caffeine consumption true obsolete_tooth eruption Dani Welter MSH:D014078 The emergence of a tooth from within its follicle in the ALVEOLAR PROCESS of the MAXILLA or MANDIBLE into the ORAL CAVITY. (Boucher's Clinical Dental Terminology, 4th ed) permanent tooth development teething true Now imported from GO true episodic memory Dani Welter MSH:D061212 Type of declarative memory, consisting of personal memory in contrast to general knowledge. autobiographical memory prospective memory true intuition Dani Welter Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994) MSH:D019545 true memory, short-term Dani Welter MSH:D008570 Remembrance of information for a few seconds to hours. immediate recall memory (short-term) true working memory speech perception Dani Welter MSH:D013067 The process whereby an utterance is decoded into a representation in terms of linguistic units (sequences of phonetic segments which combine to form lexical and grammatical morphemes). speech discrimination true intelligence Dani Welter MSH:D007360 The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions. cognitive ability general cognitive ability true body weight Dani Welter MSH:D001835 The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. true weight body height Dani Welter MSH:D001827 The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. height true body mass index An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention) BMI Dani Welter MSH:D015992 Quetelet's Index true body fat distribution Dani Welter Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks. MSH:D050218 body fat patterning true waist circumference Dani Welter MSH:D055105 The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation. true waist-hip ratio Dani Welter MSH:D049629 The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered "at risk" for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004) true birth weight Dani Welter MSH:D001724 The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. true corneal topography Dani Welter MSH:D019781 The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty. true videokeratography neuroimaging measurement Dani Welter MSH:D059906 Non-invasive methods of visualizing and measuring the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities e.g. CT scan brain imaging true addictive behaviour Dani Welter MSH:D016739 The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency. addictive behavior behavior, addictive true hematocrit Dani Welter MSH:D006400 The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value. packed erythrocyte volume packed red-cell volume true Ht reasoning Dani Welter NCIt:C86584 Thinking that is coherent and logical. true resting heart rate Dani Welter SNOMEDCT:444981005 true mortality Dani Welter true Is the quantification of the number of deaths is a population. mortality rate circadian rhythm Dani Welter MSH:D002940 The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding. diurnal rhythm true twenty-four hour rhythm obsolete_sensation Dani Welter MSH:D012677 The process in which specialized SENSORY RECEPTOR CELLS transduce peripheral stimuli (physical or chemical) into NERVE IMPULSES which are then transmitted to the various sensory centers in the CENTRAL NERVOUS SYSTEM. true replaced by GO import, sensory perception obsolete_taste Dani Welter MSH:D013649 The ability to detect chemicals through gustatory receptors in the mouth, including those on the TONGUE; the PALATE; the PHARYNX; and the EPIGLOTTIS. taste sense true replaced by sensory perception of taste, imported from GO true electroencephalogram measurement Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain. Dani Welter MSH:D058256 brain oscillations brainwaves true electroencephalogram traits brain waves event-related brain oscillation Dani Welter PERSON: Dani Welter The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus true event-related brain oscillations telomere A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs. Dani Welter MSH:D016615 telomeres true psychomotor performance Dani Welter MSH:D011597 The coordination of a sensory or ideational (cognitive) process and a motor activity. perceptual motor performance sensory motor performance true information processing speed Dani Welter processing speed true neurobehavioral manifestations Dani Welter MSH:D019954 Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. cognitive manifestations cognitive symptoms neurobehavioral signs and symptoms true personality trait Dani Welter NCIt:C17713 The characteristics in behavior that a certain person has. personality dimension personality dimensions true social desirability A personality trait rendering the individual acceptable in social or interpersonal relations. It is related to social acceptance, social approval, popularity, social status, leadership qualities, or any quality making him a socially desirable companion. Dani Welter MSH:D012928 social worth true induces sterile inflammation Number of molecules obsolete_microgram per milliliter true Duplicated microgram per square centimeter gram per kilogram per day milligram per square meter milligram per deciliter microgram per day milli-International Unit per milliliter mole per liter nanogram per liter nanogram per microliter weight percent by volume picogram per milliliter total particulate matter per liter inch picomole per 10^6 cells UCH-1 Human chordoma cell line James Malone mouse postnatal Theiler stage 27 James Malone Theiler stage 27 is a newborn mouse. Theiler stage 1 Theiler stage 2 Theiler stage 3 Theiler stage 4 Theiler stage 5 Theiler stage 6 Theiler stage 7 Theiler stage 8 Theiler stage 9 Theiler stage 10 Theiler stage 12 Theiler stage 13 Theiler stage 14 Theiler stage 15 Theiler stage 16 Theiler stage 18 Theiler stage 19 Theiler stage 20 Theiler stage 23 Theiler stage 25 microliter per liter ul/l Jon Ison joule per square meter J/m^[2] Jon Ison ionic salt An electrically neutral ionic compound composed of cations (positively charged ions) and anions (negative ions) resulting from the neutralization reaction of an acid and a base. Jon Ison acid amide unit of flow rate James Malone A unit which measures substance that passes through or onto a given area per unit of time. milligram per day Milligram per 24 Hours A unit of mass flow rate equivalent to the rate at which one thousandth of a gram of matter crosses a given surface or is delivered to a given object or space over a period of time equal to twenty four hours. Milligram per twenty four hours is also a dose administration rate unit equal to the rate at which one thousandth of a gram of a product is administered per unit of time equal to twenty four hours. mg per day http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Milligram_per_24_Hours genome A genome is the full genetic content of an organism, contained in either DNA or RNA (such as for viruses). James Malone whole genome transcriptome whole transcriptome http://en.wikipedia.org/wiki/Transcriptome The transcriptome is the set of all RNA molecules, including mRNA, rRNA, tRNA, and other non-coding RNA produced in one or a population of cells. exome whole exome The exome is the part of the genome formed by the complete content of exons, coding portions of genes in the genome that are expressed. James Malone exon An exon is a nucleic acid sequence that is represented in the mature form of an RNA molecule either after portions of a precursor RNA (introns) have been removed by cis-splicing or when two or more precursor RNA molecules have been ligated by trans-splicing. exonic region family relationship initial time point James Malone The first time point measured at the start of some process. initial timepoint karyotype James Malone http://en.wikipedia.org/wiki/Karyotype A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. joule per square centimeter J/cm^[2] James Malone FAIRE-seq James Malone Giresi, PG; Kim, J, McDaniell, RM, Iyer, VR, Lieb, JD (2007 Jun). FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin.. Genome research 17 (6): 877–85. doi:10.1101/gr.5533506. FAIRE-Seq (Formaldehyde-Assisted Isolation of Regulatory Elements) is an assay used for determining the sequences of DNA regions associated with regulatory activity. This is enabled by the isolation of nucleosome-depleted DNA from total genomic dna to access actively transcribed dna. inbred Property of an organism which indicates that the organism's parents were genetically related (potentially for several generations). Inbreeding results in closer homozygosity. James Malone outbred Propety of an organism which indicates that the organism's parents are not closely related (e.g. family members). 454 GS sequencer The 454 GS is a GS high-throughput sequencing machine developed by 454 Life Sciences. 454 GS FLX sequencer 454 GS FLX Titanium sequencer The 454 GS FLX Titanium sequencer is a GS high-throughput sequencing machine developed by 454 Life Sciences. 454 GS Junior sequencer The 454 GS Junior is a GS high-throughput sequencing machine developed by 454 Life Sciences. AB SOLiD System AB SOLiD 5500xl AB SOLiD PI System AB SOLiD 4 System AB SOLiD System 3.0 AB SOLiD 5500 AB SOLiD 4hq System AB SOLiD System 2.0 material supplier An organization which has supplied material to another individual or organization, such as to be used in a biomedical investigation. biosource provider James Malone environmental history James Malone Information concerning the envinonrment a material entity has been exposed to, such as an organism from a lake. cohort A cohort is a collection of material entities grouped together based on some common property of interest, such as age or disease stage. Functional Genomics group @ EBI biological macromolecule Anatomical structure which has as its parts one or more ordered aggregates of nucleotide, amino acid fatty acid or sugar molecules bonded to one another. peer review quality control role The role of a material which has been reviewed under peer review for quality control purposes. James Malone Arabidopsis Growth Stage 6.10 Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510. 10% of flowers to be produced have opened Arabidopsis Growth Stage 6.30 30% of flowers to be produced have opened Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510. Arabidopsis Growth Stage 6.50 50% of flowers to be produced have opened Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510. Arabidopsis Growth Stage 8.00 Boyes DC et al, (2001) Growth Stage–Based Phenotypic Analysis of Arabidopsis: A Model for High Throughput Functional Genomics in Plants. The Plant Cell 13, 1499-1510. Arabidopsis Growth Stage 6.50 Arabidopsis Growth Stage 9.70 Senescence complete; ready for seed harvest. cot filtration Cot filtration is an experimental process that uses DNA renaturation kinetics (i.e. Cot analysis) to separate repetitive DNA sequences that dominate many eukaryotic genomes from low-copy sequences which are more gene rich. James Malone Peterson DG (2005) Reduced representation strategies and their application to plant genomes. In: The Handbook of Plant Genome Mapping: Genetic and Physical Mapping. Edited by: Meksem K, Kahl G. WILEY-VCH Verlag pp. 307-335. reduce cholesterol levels carcinogen role Any chemical, biological or physical agents that increase the risk of neoplasms in humans or animals. Carcinogens include natural or synthesized compounds, certain viruses, and various sources of radiation. A carcinogen may directly alter the genetic material of cells (genotoxic), thereby initiating or promoting the process of malignant transformation; it also may induce cancers by mechanisms that do not involve a direct alteration of cellular genetic material (non-genotoxic). (NCI04) Dani Welter NCIt:C347 carcinogenic agent C-reactive protein measurement true Helen Parkinson C-reactive protein level C-reactive protein (CRP) measurement is a measurement of the level of C-reactive protein in the blood. Levels are known to rise in response to inflammation, CRP is therefore used as a clinical measure of inflammation. The measurement is used in the process of clinical diagnosis as high levels of CRP are associated with cardiovascular disease, diabetes and hypertension and in some cancers. MSH:D002097 ferritin measurement Helen Parkinson A ferritin measurement a is measurement of ferritin level in serum as an indicator of iron metabolism ferritin level true soluble transferrin receptor measurement Helen Parkinson soluble transferrin receptor level sTfR level true A soluble transferrin receptor measurement (sTfR) is a measure of the level of the Soluble transferrin receptor protein in blood as a measure of iron metabolism. iron biomarker measurement iron biomarker level Helen Parkinson true iron status biomarkers An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism PR interval A PR interval is an electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle Helen Parkinson true angiotensin converting enzyme activity measurement angiotensin converting ezyme activity level ACE activity measurement true Angiotensin-converting enzyme activity Helen Parkinson An angiotensin converting enzyme (ACE) activity measurement measures the ACE activity in the blood. ACE mediates extracellular volume by participation in the renin-angiotensin system and is a therefore target for ACE inhibitors which aim to reduce blood pressure ACE activity level brain measurement fasting blood glucose measurement Helen Parkinson fasting glucose-related traits true fasting blood glucose level fasting plasma glucose An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating. fasting blood insulin measurement fasting blood insulin level A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted fasting blood insulin fasting insulin-related traits true insulin measurement true insulin level An insulin measurement is a measure of insulin typically performed in the diagnosis of patients Helen Parkinson glucose measurement glucose level true Is any quantification of glucose. Helen Parkinson HOMA-B homeostasis model assessment B cell function The HOMA-IR measurement employs the homeostatic model assessment (HOMA) to quantify beta-cell function. true Helen Parkinson insulin sensitivity measurement An insulin sensitivity measurement is a measurement of insulin metabolism measured using the HOMA model. Helen Parkinson true insulin sensitivity test C57BL/6 C57Black C57Bl, C57Black/6 C57Black6 CB57 B6 C57BL6 C57/B6 C57 Black/6 C57 C57B/6 Helen Parkinson C57Bl\6 C57BL/6 is a mouse strain as described in Jackson Laboratory strain index C57/BL6 radiation induced mutation http://www.findmice.org/glossary.jsp#radiation_induced A mutation induced by irradiation usually gamma-ray or X-ray. HOMA-IR The HOMA-IR measurement employs the homeostatic model assessment (HOMA) to quantify insulin resistance. Helen Parkinson true homeostasis model assessment insulin resistance adiponectin measurement adiponectin levels Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Adiponectin levels have been shown to beinversely correlated with with the risk of type 2 diabetes, coronary artery disease, stroke, and several metabolic traits. Helen Parkinson true hematological measurement Helen Parkinson A measurement quantifying some blood cell, or component. true serum hepcidin measurement A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism. serum hepcidin hepcidin levels Helen Parkinson true telomere length Helen Parkinson true A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging. monocyte early outgrowth colony forming unit early outgrowth endothelial progenitor cell colony forming units true A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology. http://www.stemcell.com/~/media/Technical%20Resources/3/29012_CFUHill_3_0_1.ashx monocyte early outgrowth colony forming units D dimer measurement Helen Parkinson true A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis. http://en.wikipedia.org/wiki/D-dimer D-dimer levels fibrin D-dimer levels plasma D-dimer levels spine bone size Helen Parkinson true Spine bone size is a measurement of the dimensions of the spine. hemoglobin measurement Hemoglobin measurement is a measure of the quanity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia. haemoglobin levels Hb hemoglobin levels hemoglobin count Helen Parkinson true HPV seropositivity HPV seropositivity is the result of a measurement of circulating human papilloma virus specific antibodies used in the diagnosis of HPV infection. true Helen Parkinson femoral neck bone geometry true Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture. Helen Parkinson bone measurement bone geometry Helen Parkinson Bone geometry is the measure of the dimensions of some bone bone quantitative ultrasound measurement Helen Parkinson true bone quantitative ultrasound A bone quantitative ultrasound measurement is the output of a an ultrasound process in which bones are assayed using ultrasound and information about bone density, cortical thickness, elasticity and microarchitecture may be returned. muscle mass measurement A muscle mass measurement is the quantification of the mass of a muscle e.g. skeletal muscle for an individual. true muscle mass Helen Parkinson bone fracture related measurement fracture-related traits A fracture related measurement is a measure of some bone or muscular entity which collectively are used to determine the risk of bone fracture e.g. bone density, muscle mass etc. Helen Parkinson true arterial stiffness measurement Helen Parkinson An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality arterial stiffness true serum creatinine measurement creatinine levels serum creatinine levels Helen Parkinson true A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function. soluble P-selectin measurement sP-selectin The measurement of the soluble component of the P-selectin adhesion molecule. Soluble P-selection is associated with adverse cardiovascular events. Alternative terms include: CD62 antigen-like family member P Granule membrane protein 140 GMP-140 Leukocyte-endothelial cell adhesion molecule 3 LECAM3 Platelet activation dependent granule-external membrane protein PADGEM Helen Parkinson soluble P-selectin level ICAM-1 measurement soluble ICAM1 measurement sICAM-1 A soluble ICAM-1 measurement is the quantification of the ICAM-1 protein. ICAM-1 levels are associated with adverse cardiovascular events. Helen Parkinson soluble intercellular adhesion molecule-1 adhesion factor http://purl.obolibrary.org/obo/IDO_0000557 A biological macromolecule that has an adhesion disposition. adhesion molecule adhesion molecule measurement soluble adhesion molecule measurement A soluble adhesion molecule measurement is a quantification of the soluble compoment (as opposed to membrane bound) a molecule known to participate in the process of adhesion, levels of which may be implicated in cardiovascular adverse events. true obsolete_hemoglobin E disease use 'http://www.orphanet.org/rdfns#pat_id_3654' instead. New Label : Hemoglobin E disease Beta thalassemia/hemoglobin E disease HbE disease http://en.wikipedia.org/wiki/Hemoglobin_E 2.32 NCI2004_11_17:C35287 Hemoglobin E disease is an autosomal recessive genetic disorder caused by a single point mutation in the hemoglobin molecule. true Helen Parkinson NCI:C35287 http://www.orphanet.org/rdfns#pat_id_3654 obsolete_bitter taste sensitivity Dani Welter replaced by sensory perception of bitter taste imported from Go true Any measurable or observable characteristic related to the ability to perceive a particular flavor or suggestion of something bitter by the chemoreceptors of the gustatory system. Helen Parkinson http://purl.bioontology.org/ontology/VT/VT_0004210 bitter taste sensitivity trait true mean corpuscular volume A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample. MCV true Helen Parkinson mean cell volume mean corpuscular hemoglobin mean corpuscular haemoglobin MCH The MCH is the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count true mean corpuscular hemoglobin concentration MCHC Helen Parkinson true mean corpuscular haemoglobin concentration The mean corpuscular gemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell lipid measurement Helen Parkinson A measure of circulating lipid true triglyceride measurement true Helen Parkinson A triglyceride measurement is a quantification of triglycerides in some body fluid, used as a biomarker for cardiovascular disease. triglyceride levels urate measurement Helen Parkinson true A urate measurement is the quantification of some urate in body fluid urate levels serum gamma-glutamyl transferase measurement true Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse. GGT measurement Gamma glutamyl transpeptidase levels Helen Parkinson Gamma gluatamyl transferase levels gamma glutamyl transferase measurement alkaline phosphatase measurement Alkaline phosphatase measurement is a quantification of alkaline phosphatase in blood. AP is a marker for bone and liver disease. true Helen Parkinson AP creatine kinase measurement true Helen Parkinson A creatine kinase measurement is a quantification of creatine kinase in blood. Creatine kinase is a marker for tissue damage and is assayed in blood tests as a marker of myocardial infarction (heart attack), rhabdomyolysis (severe muscle breakdown), muscular dystrophy, the autoimmune myositides and in acute renal failure. serum albumin measurement An albumin measurement is a quantification of albumin in blood. Serum albumin, the main protein of plasma, has a good binding capacity for water, Ca2+, Na+, K+, fatty acids, hormones, bilirubin and drugs. Its main function is the regulation of the colloidal osmotic pressure of blood. Major zinc transporter in plasma, typically binds about 80% of all plasma zinc. http://en.wikipedia.org/wiki/Serum_albumin Helen Parkinson http://www.uniprot.org/uniprot/P02768 true blood albumin total blood protein measurement true serum total protein TBP A total blood protein measurement is a quantification of protein in a blood sample. It is used as a marker for disease and nutrition. It is performed in the liquid portion of blood and typically measures albumin and globulin. neonatal systemic lupus erthematosus neonatal lupus true Helen Parkinson neonatal lupus syndrome C536397 obsolete_bronchopulmonary dysplasia 2.32 true use 'http://www.orphanet.org/rdfns#pat_id_10960' instead. New Label : Bronchopulmonary dysplasia D001997 chronic fatigue syndrome D015673 A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9) true Helen Parkinson A1C measurement true An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months. Helen Parkinson HbA1c levels glycosylated Haemoglobin A level glycosylated Hemoglobin A level glycated hemoglobin levels planned process A processual entity that realizes a plan which is the concretization of a plan specification. OBI_0000011 amygdala reactivity measurement Is the quantification of amygdala response to stimulus using MRI. Helen Parkinson true http://www.ncbi.nlm.nih.gov/pubmed/22856363 genomic measurement Is a quantification of some aspect of the genome, e.g. copy number variation at some locus. Helen Parkinson true glycoprotein measurement Is the quantification of some glycoprotein. Helen Parkinson antibody measurement Is the quantification of some antibody Helen Parkinson population measurement Is the quantification of some measureable quality of a population e.g. birth rate. Helen Parkinson African NCIT:C42331 Denotes a person with African ancestral origins who self identifies, or is identified, as African. The concept does not refer to those of other ancestry, for example, European and South Asian. In practice, the term mainly refers to people originated from forty-eight sub-Saharan Africa nations; and excudes individuals from North Africa countries, e.g. such as Algeria, Morocco, Egypt, Tunisia with Arab and Berber ethnicity. Helen Parkinson cryptorchidism http://en.wikipedia.org/wiki/Cryptorchidism Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle. Helen Parkinson undescended testis undescended testes Sigma 1278b Sigma1278b Helen Parkinson http://wiki.yeastgenome.org/index.php/Commonly_used_strains sigma 1278b sigma1278b Σ1278b A Saccharomyces cerevisiae commercially available strain used in pseudohyphal growth studies. Granek and Magwene, PLoS Genet. 2010 Jan 22;6(1):e1000823, established that certain lineages of the Sigma1278B background contain a nonsense mutation in RIM15, a G-to-T transversion at position 1216 that converts a Gly codon to an opal stop codon. This rim15 mutation interacts epistatically with mutations in certain other genes to affect colony morphology. pericardial fat C0225971 true Pericardial fat is an adipose tissue. Helen Parkinson serum IgG measurement IgG level A serum immunoglobulin G measurement is the measurement of the IgG antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum true immunoglobulin G level body weight gain Helen Parkinson true The process of increasing the mass of an organism over time. anti-psychotic drug related weight gain The process of increasing body mass during treatment with an antipsychotic drug. http://ajp.psychiatryonline.org/article.aspx?articleid=173781 true Helen Parkinson serum non-albumin protein measurement The measurement of the non-albumin portion of blood protein (globulin) in serum Helen Parkinson brain serotonin transporter measurement 5-HTT brain serotonin transporter levels true Helen Parkinson A serotonir transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET. bilirubin measurement A bilirubin measurement is a quantification of bilirubin typically measured in serum. Helen Parkinson true bilirubin levels butyrylcholinesterase measurement true Helen Parkinson butyrylcholinesterase levels http://en.wikipedia.org/wiki/Butyrylcholinesterase A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans. C4BP measurement Helen Parkinson C4b binding protein levels A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion) http://en.wikipedia.org/wiki/C4b-binding_protein C4b-binding protein measurement C4b-binding protein levels true chemerin measurement RAR-responsive protein TIG2 measurement chemerin levels A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880) Retinoic acid receptor responder protein 2 measurement Tazarotene-induced gene 2 protein measurement total cholesterol measurement cholesterol, total true A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL. Helen Parkinson total cholesterol levels e-selectin measurement CD62 antigen-like family member E measurement An e-selectin measurement is the quantification of e-selectin typically measured in serum. E-selectin is a cell adhesion molecule expressed only on endothelial cells activated by cytokines. Like other selectins, it plays an important part in inflammation. In humans. It is also used as a cancer biomarker. Helen Parkinson eukocyte-endothelial cell adhesion molecule 2 measurement endothelial-leukocyte adhesion molecule 1measurement E-selectin levels soluble e-selectin levels http://en.wikipedia.org/wiki/E-selectin fetal hemoglobin measurement A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease. fetal haemoglobin measurement true Helen Parkinson fetal hemoglobin levels HbF levels infant head circumference The infant head circumference is the measurement of the diameter of the head and is a routine measure made during human development as a broad indicator of child development. It ca.n be used as a proxy for brain development homocysteine measurement A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment. true Helen Parkinson homocysteine levels serum IgE measurement http://en.wikipedia.org/wiki/IgE Helen Parkinson true IgE levels A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity. interleukin 18 (Homo sapiens) Interleukin-18 (IL18, also known as interferon-gamma inducing factor) is a protein which in humans is encoded by the IL18 gene.[1][2] The protein encoded by this gene is a proinflammatory cytokine. IL-18 Helen Parkinson http://en.wikipedia.org/wiki/Interleukin_18 http://www.uniprot.org/uniprot/Q14116 interleukin 18 measurement Helen Parkinson An IL-18 measurement is the quantification of IL-18, typically in blood. Interleukin-18 levels IL-18 measurement IL-18 levels liver enzyme measurement A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function. true Helen Parkinson http://en.wikipedia.org/wiki/Liver_enzyme liver enzyme levels obsolete_alanine transaminase measurement true duplicate with http://www.ebi.ac.uk/efo/EFO_0004735 serum alanine aminotransferase measurement An alanine transaminase measurement is the quantification of this liver enzyme typically measured in blood. alanine aminotransferase measurement 2.34 true Helen Parkinson mean platelet volume http://en.wikipedia.org/wiki/Mean_platelet_volume true A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood Helen Parkinson naphthyl-keratin adduct measurement A quantification of the naphthyl-keratin adduct levels. naphthyl-keratin adduct is used as a marker for exposure to the xenobiotic napthalene. naphthyl-keratin adduct levels true http://www.ncbi.nlm.nih.gov/pubmed/22391508 Helen Parkinson complete blood cell count http://en.wikipedia.org/wiki/Complete_blood_cell_count CBC A complete blood cell count quantifies specific blood components. full blood count lymphocyte count true lymphocyte counts Helen Parkinson A quantification of lymphocytes in blood. obsolete_gamma glutamyl transpeptidase measurement true the quantification of gamma glutamyl transpeptidase, typically in blood, used as a diagnotic test of liver function and disease. gamma glutamyl transferase measurement GGT measurement Helen Parkinson Gamma glutamyl transpeptidase levels brachial circumference upper arm circumference Helen Parkinson true bachial circumference (BC) is a measurement of the diameter of the upper arm and can be used as an indicator of muscle mass and fat tissue. mid arm circumference obsolete_aspirin induced asthma true Aspirin induced asthma is caused by an anomaly in the arachidonic acid cascade, which causes increased production of cysteinyl leukotrienes, a series of chemicals involved in the body's inflammatory response. When medications like NSAIDs or aspirin block the COX-1 enzyme, prostaglandin and thromboxane production is decreased, which causes the overproduction of leukotrienes and produces the severe asthma and allergy-like effects. Although the underlying cause is not fully understood, the attachment of platelets to certain leukocytes in the blood may contribute to the overproduction of leukotrienes replaced by an import from HPO - http://purl.obolibrary.org/obo/HP_0012042 http://en.wikipedia.org/wiki/Aspirin-induced_asthma childhood onset asthma true childhood-onset asthma obsolete_thyroid stimulating hormone measurement Helen Parkinson Is a quantification of thyroid-stimulating hormone (also known as TSH or thyrotropin). a hormone that stimulates the thyroid gland to produce thyroxine (T4), and then triiodothyronine (T3) which stimulates the metabolism of almost every tissue in the body.[1] It is a glycoprotein hormone synthesized and secreted by thyrotrope cells in the anterior pituitary gland, which regulates the endocrine function of the thyroid gland. A TSH test is used in the diagnosis and monitoring of thyroid conditions. true http://en.wikipedia.org/wiki/Thyroid_stimulating_hormone true gestational diabetes gestational diabetes mellitus true Gestational diabetes is a condition in which women without previously diagnosed diabetes exhibit high blood glucose levels during pregnancy (especially during third trimester). Gestational diabetes is caused when the body of a pregnant woman does not secrete enough insulin required during pregnancy, leading to increased blood sugar levels. http://en.wikipedia.org/wiki/Gestational_diabetes Helen Parkinson childhood eosinophilic esophagitis true HIV mother to child transmission Helen Parkinson The process of transmission of HIV infection from mother to child during pregnancy, birth or breastfeeding. true HIV MTCT diabetes mellitus type 2 associated cataract true Diabetic cataracts are thought to be caused by hyperglycemia associated with disturbed glucose metabolism http://www.ncbi.nlm.nih.gov/pubmed/8996641 variant Creutzfeld Jacob disease Variant Creutzfeldt-Jakob disease (vCJD) is a rare and fatal human neurodegenerative condition which is classified as a Transmissible Spongiform Encephalopathy (TSE) because of its ability to be transmitted and the characteristic spongy degeneration of the brain that it causes. vCJD was first described in the United Kingdom in March 1996 and has been linked with exposure to a TSE of cattle called Bovine Spongiform Encephalopathy (BSE), also known as Classical BSE1, which was first reported in the United Kingdom in 1986. Helen Parkinson http://www.who.int/mediacentre/factsheets/fs180/en/ true vCJD D007562 acute graft vs. host disease http://en.wikipedia.org/wiki/Graft-versus-host_disease Graft-versus-host disease (GVHD) is a common complication following an allogeneic tissue transplant. It is commonly associated with stem cell or bone marrow transplant but the term also applies to other forms of tissue graft. true genomic data James Malone Genomic data is data about the genomes of an organism. transcriptomic data Transcriptomic data is data about RNA transcribed by a cell, cells or organism. This includes mRNA, tRNA and cDNA. James Malone metagenomic data James Malone Metagenomic data is data about the genomes of a sample or samples containing mixed material such as from genetic material recovered directly from environmental samples. metatranscriptomic data James Malone Metatranscriptomic data is data about transcriptomic data from groups of organisms. synthetic DNA data James Malone Synthetic DNA data is data about DNA that has been artificially created without initial template DNA such as from naturally occuring genomic sequences in an organism. viral RNA data Viral RNA data is data about a virus which stores its genetic information in RNA. James Malone gallbladder neoplasm Gallbladder Cancer D005706 Gall Bladder Cancer gallbladder neoplasms true Helen Parkinson Neoplasms, Gallbladder Cancer of Gallbladder duodenal ulcer D004381 A peptic ulcer arising in the small intestine. Helen Parkinson true cystic fibrosis associated meconium ileum Helen Parkinson true http://en.wikipedia.org/wiki/Meconium_ileus#Meconium_ileus Cystic fibrosis associated meconium ileum is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis The presence of meconium ileus is not related to the severity of the cystic fibrosis. treatment refractory schizophrenia Helen Parkinson Schizophrenia which does not respond to commonly used treatments. http://www.ncbi.nlm.nih.gov/pubmed/11025914 acute lung injury Helen Parkinson true ALI Acute lung injury (ALI) is a diffuse heterogeneous lung injury characterized by hypoxemia, non cardiogenic pulmonary edema, low lung compliance and widespread capillary leakage. ALI is caused by any stimulus of local or systemic inflammation, principally sepsis. http://en.wikipedia.org/wiki/Acute_lung_injury low density lipoprotein cholesterol measurement true The measurement of LDL cholesterol in blood used as a risk indicator for heart disease. LDL measurement Helen Parkinson high density lipoprotein cholesterol measurement The measurement of HDL cholesterol in blood used as a risk indicator for heart disease. HDL measurement obsolete_triglyceride measurement true duplication The measurement of triglycerides in blood used as a risk indicator for heart disease. Helen Parkinson apolipoprotein A 1 measurement lipoprotein A-1 levels Is a quantification of serum lipoprotein A. Apolipoprotein A-I, encoded in humans by the APOA1 gene and is the major protein component of high density lipoprotein (HDL) in plasma. It is is implicated as a risk factor for atherosclerotic diseases such as coronary heart disease and stroke. Helen Parkinson Serum amyloid A-1 protein levels apolipoprotein B measurement Helen Parkinson The measurement of ApoB in blood. Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor, and is upregulated in response to enterovirus 71. true http://www.uniprot.org/uniprot/P04114 osteoarthritis of the knee Knee osteoarthritis is a degenerative disease of the knee joint true Helen Parkinson http://en.wikipedia.org/wiki/Knee_osteoarthritis cystatin C measurement is a quantification of serum cystatin C C (formerly gamma trace, post-gamma-globulin or neuroendocrine basic polypeptide),[1] a protein encoded by the CST3 gene, is mainly used as a biomarker of kidney function and kidney disease. Helen Parkinson true vitamin K measurement Helen Parkinson is a quantification of Vitamin K or Phylloquinone, a polycyclic aromatic ketone, based on 2-methyl-1,4-naphthoquinone, with a 3-phytyl substituent. It is a fat-soluble vitamin that is stable to air and moisture but decomposes in sunlight. It is found naturally in a wide variety of green plants, particularly leaves, since it functions as an electron acceptor during photosynthesis, forming part of the electron transport chain of Photosystem I. true factor VII measurement true Is a quantification of factor VII in serum, (formerly known as proconvertin) is one of the proteins that causes blood to clot in the coagulation cascade. It is an enzyme (EC 3.4.21.21) of the serine protease class. vitamin B12 measurement http://en.wikipedia.org/wiki/Vitamin_B12 is a quantification of Vitamin B12, vitamin B12 or vitamin B-12, is a water-solublevitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins. It is normally involved in themetabolism of every cell of the human body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis. Helen Parkinson true vitamin B12 levels vitamin B6 measurement vitamin B6 levels true is a quantification of Vitamin B6 a water soluble vitamin Helen Parkinson http://en.wikipedia.org/wiki/Vitamin_B12 sphingolipid measurement Is a quantification of sphingolipids - molecules playing a role in signal transmission. true Helen Parkinson Sphingolipid assay fibrinogen measurement Helen Parkinson true fibrinogen levels is a quantification of circulating fibrinogen (factor I) is a soluble plasma glycoprotein, synthesised by the liver, that is converted by thrombin into fibrin during blood coagulation. prostate specific antigen measurement PSA levels prostate specific antigen levels true A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer. Helen Parkinson PSA measurement progranulin measurement true A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease Helen Parkinson progranulin levels IGFBP-3 measurement true Insulin-Like Growth Factor Binding Protein 3 levels Helen Parkinson Is the quantification of IGFBP-3, a member of the insulin-like growth factor-binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. Decreased IIGFBP3 protein levels are used as a biomarker for prostate cancer progression. IGF-1 measurement Insulin-Like Growth Factor 1 levels true Helen Parkinson Is the quantification of Insulin-like growth factor 1 (IGF-1), also called somatomedin C. IGF-1 is a hormone similar in molecular structure to insulin. It plays an important role in childhood growth and continues to have anabolic effects in adults. Levels of IGF-1 are known to increase in some cancers. http://en.wikipedia.org/wiki/IGF-1 insulin like growth factor measurement n.wikipedia.org/wiki/Insulin-like_growth_factor true Helen Parkinson Is a quantification of iany of the insulin like growth factors von Willebrand factor measurement http://en.wikipedia.org/wiki/Von_Willebrand_factor Is a quantification of von Willebrand factor (vWF) is a blood glycoprotein involved in hemostasis. It is deficient or defective in von Willebrand disease and is involved in a large number of other diseases, including thrombotic thrombocytopenic purpura, Heyde's syndrome, and possibly hemolytic-uremic syndrome.[1] Increased plasma levels in a large number of cardiovascular, neoplastic, and connective tissue diseases are presumed to arise from adverse changes to the endothelium, and may contribute to an increased risk of thrombosis. vWF true von Willebrand factor levels factor VIII measurement http://en.wikipedia.org/wiki/Factor_viii Is a quantification of factor VIII in serum, Factor VIII (FVIII) is an essential blood clotting protein, also known as anti-hemophilic factor (AHF). In humans, Factor VIII is encoded by the F8 gene.[1][2] Defects in this gene results in hemophilia A. factor VIII levels true vitamin D measurement A quantification of Vitamin D levels, typically in blood. Vitamin D includes both CHOLECALCIFEROLS and ERGOCALCIFEROLS, which have the common effect of preventing or curing RICKETS in animals. It can also be viewed as a hormone since it can be formed in SKIN by action of ULTRAVIOLET RAYS upon the precursors, 7-dehydrocholesterol and ERGOSTEROL, and acts on VITAMIN D RECEPTORS to regulate CALCIUM in opposition to PARATHYROID HORMONE (MeSH) Helen Parkinson MSH:D014807 true nevus count true Helen Parkinson A nevus count is the quantification of nevi on the skin. protein C measurement Is a quantification of Protein C, also known as autoprothrombin IIA and blood coagulation factor XIV,] is a zymogenic (inactive) protein, the activated form of which plays an important role in regulating blood clotting, inflammation, cell death and maintaining the permeability of blood vessel walls in humans and other animals. http://en.wikipedia.org/wiki/Protein_c true coagulation factor XIV coagulation factor measurement A coagulation factor measurement is the quantification of any of the entities involved in the process of coagulation or regulation of coagulation. Abnormal coagulation may result in thrombosis or hemorrhage. leptin receptor measurement true is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. leptin receptor levels Helen Parkinson soluble leptin receptor levels protein S measurement is a quantification of protein S, a vitamin K-dependent plasma glycoprotein synthesized in the endothelium involved in anticoagulation and used in the diagnosis of thrombosis. true http://en.wikipedia.org/wiki/Protein_s phospholipid measurement true Helen Parkinson Is a quantification of phospholipids, typically in blood used as a biomarker in diet studies. plasma phospholipid levels haptoglobin measurement Is a quantifictaion of blood haptoglobin. This test is used as in the diagnosis of tranfusion reaction and haemolytic anaemia. Helen Parkinson true haptoglobin levels white matter integrity true White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function. Helen Parkinson cortisol secretion measurement iI a quantification of secreted cortisol, typically in the blood. Some studies report increased cortisol in depressive patients. Helen Parkinson true obsolete_coronory artery calcification duplicate class, use http://www.ebi.ac.uk/efo/EFO_0004723 instead true true Is a quantification of `Calcification` (PATO:0001447) affecting the `coronary arteries` (FMA:3800) (dtefined by the HPO) typically measured by tomography . Calcification of vasculature is is associated with myocardial infarction. Helen Parkinson TPE interval measurement http://www.ncbi.nlm.nih.gov/pubmed/22342860 Helen Parkinson Is a measurement of the T-peak to T-end (TPE) interval on an electrocardiogram, is a measure of myocardial dispersion of repolarization and is associated with an increased risk of ventricular arrhythmias. true response to vaccine Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a vaccine. A vaccine is a preparationcontaining substances with antigenic properties administered to activate the immune system, thereby inducing an immune response. true response to platinum based chemotherapy Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a platinum based chemotherapy stimulus. true response to TNF antagonist true Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a TNF antagonist. obsolete_response to methylphenidate true replaced by a GO imported term true obsolete_response to flurouracil true imported from GO true processed genotype data file A processed genotype data file is a data file which stores information about genotypeswhich has been processed by some form of analysis method, for example normalization or noise reduction. binding site identification design http://mged.sourceforge.net/ontologies/MGEDOntology.owl#binding_site_identification_design Natalja Kurbatova binding_site_identification_design A binding site identification design type investigates protein binding sites on nucleic acids. Non-exact synonym: ChIP, chromatin immunoprecipitation, chromatin IP. MO_933 biomolecular annotation design Natalja Kurbatova MO_213 Biomolecular annotation study design types are those which are designed to investigate functions, processes, locations and identity at the molecular level e.g. genotyping. cellular modification design Jon Ison A cellular modification design type is where a modification of the transcriptome, proteome (not genome) is made, for example RNAi, antibody targeting. MO_392 cellular_modification_design Natalja Kurbatova http://mged.sourceforge.net/ontologies/MGEDOntology.owl#cellular_modification_design biological variation design Natalja Kurbatova A biological variation study design type investigates differences caused by intrinsic characteristics of an organism(s) or biological system; epidemiological reasons (history of biosources); manipulation, treatment or modification of an organism(s). array specific design Methodological variation study design specific for array technology Natalja Kurbatova methodological variation design A methodological variation study design type investigates differences caused by application of protocols, hardware, software and bioassay relationships. Natalja Kurbatova beta-amyloid 1-42 measurement CSF Aβ1-42 levels true CSF AB1-42 levels Is the quantification of Beta-amyloid 1-42 in cerebrospinal fluid typically used as a biomarker for Alzheimer's Disease obsolete_response to gemcitabine true true imported from GO obsolete_response to lapatinib true imported from GO true obsolete_response to antidepressant imported from GO true true obsolete_response to diruetic true true imported from GO obsolete_response to anticonvulsant true imported from GO true obsolete_response to statin true imported from GO true obsolete_response to glucocorticoid imported from GO true true obsolete_response to interferon beta imported from GO true true obsolete_response to lithium imported from GO true true QT interval http://en.wikipedia.org/wiki/QT_interval true The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle wet macular degeneration true A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision. D057135 tumor necrosis factor-alpha measurement true Is a quantification of tumor necrosis factor-alpha, a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well. The measurement is used as a biomarker for inflammation and is typically performed on a blood sample. hip geometry Measurements of the hip. true non-compaction cardiomyopathy ncCM Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. http://purl.obolibrary.org/obo/HP_0011664 Helen Parkinson obsolete_inherited arrhythmia 2.32 true Helen Parkinson Reorganised into Orphanet hierarchy inherited cardiac arrthythmia A cardiac arrthythmia with a genetic cause. obsolete_long QT syndrome 2.32 Increased time between the start of the Q wave and the end of the T wave. Prolonged QT interval on EKG LQTS true http://purl.obolibrary.org/obo/HP_0001657 Helen Parkinson use 'http://www.orphanet.org/rdfns#pat_id_658' instead. New Label : Familial long QT syndrome obsolete_Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen Syndrome Jervell and Lange Nielsen Syndrome Deafness, Congenital, and Functional Heart Disease Surdo-Cardiac Syndrome Syndrome, Surdo-Cardiac Cardioauditory Syndrome of Jervell and Lange-Nielsen Jervell Lange Nielsen Syndrome 2.32 JLNS Surdo Cardiac Syndrome Surdo-Cardiac Syndromes true Prolonged QT Interval in EKG and Sudden Death A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2). Syndrome, Jervell-Lange Nielsen use 'http://www.orphanet.org/rdfns#pat_id_12056' instead. New Label : Jervell and Lange-Nielsen syndrome http://purl.bioontology.org/ontology/MSH/D029593 Cardioauditory Syndrome of Jervell and Lange Nielsen obsolete_short QT syndrome true Helen Parkinson http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Short_QT_Syndrome SQTS Ventricular tachyarrhythmias occurring in association with short QT syndrome 2.32 use 'http://www.orphanet.org/rdfns#pat_id_10670' instead. New Label : Familial short QT syndrome obsolete_Brugada syndrome BrS use 'http://www.orphanet.org/rdfns#pat_id_8022' instead. New Label : Brugada syndrome A condition characterized by a pattern of right bundle branch block (RBBB) and ST-segment elevation within electrocardiogram (ECG) leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in abnormal electrophysiological activity in the right ventricle and a propensity to malignant tachyarrhythmias. true 2.32 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Brugada_Syndrome Helen Parkinson obsolete_Catecholaminergic polymorphic ventricular tachycardia use 'http://www.orphanet.org/rdfns#pat_id_3525' instead. New Label : Catecholaminergic polymorphic ventricular tachycardia http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Catecholaminergic_Polymorphic_Ventricular_Tachycardia Helen Parkinson 2.32 CPVT true Ventricular Tachycardia associated with syncope and/or cardiac arrest triggered by emotion or exercise in patients whose baseline ECG is normal. (ACC) obsolete_fetal hemoglobin measurement true Helen Parkinson duplicate Is a quantification of fetal hemoglobin in blood. HbF level hemoglobin F measurement factor XI measurement Helen Parkinson Is a quantification of Factor XI, typically in blood. Factor Xi is a serine protease involved in the process of coagulation. http://en.wikipedia.org/wiki/Factor_XI true intraocular pressure measurement true Is a quantification of intraocular pressure. Increased intraocular pressure is a heritable risk factor for primary open angle glaucoma. Helen Parkinson sex hormone globulin binding measurement Helen Parkinson SHBG levels true SHBG level http://www.ncbi.nlm.nih.gov/pubmed/22675492 Is a quantification of sex hormone binding globulin. The SHBG glycoprotein binds to circulating estradiol and testosterone, low levels of SGBG may be implicated in breast cancer etiology. estradiol measurement oestrogen level oestrogen levels Is a quantification of circulating estradiol a circulating steriod sex hormone. estradiol levels insomnia true D007319 Helen Parkinson HP:0100785 Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition gambling behaviour gambling true An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money. Helen Parkinson D005715 metamphetamine dependence A drug dependence that is a psychological dependency on the regular use of metamphetamine. DOID:9975 Helen Parkinson Tomasz Adamusiak metamphetamine addiction true obsolete_response to iloperidone Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) in response to iloperidone, an atypical antipsychotic used in the treatment of schizophrenia. Imported from GO. Awaiting a GO import true true age at menarche Helen Parkinson The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual true age at menopause true The age of onset of (human) menopause, the beginning of the first menstrual cycle in an individual Helen Parkinson hypothyroidism A deficiency of thyroid hormone. true Helen Parkinson http://purl.obolibrary.org/obo/HP_0000821 infantile hypertrophic pyloric stenosis Helen Parkinson This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition. Panteli C; New insights into the pathogenesis of infantile pyloric stenosis. Pediatr Surg Int. 2009 Dec;25(12):1043-52. Epub 2009 Sep 16. [abstract] true nodular sclerosis Hodgkin lymphoma true http://www.ncbi.nlm.nih.gov/pubmed/22086417 A distinct, highly heritable Hodgkin lymphoma subtype. obsolete_orofacial cleft http://www.medilexicon.com/medicaldictionary.php?t=18132 A cleft resulting from incomplete merging or fusion of embryonic facial processes normally uniting in the formation of the face, cleft lip or cleft palate. using orphanet orofacial clefting syndrome instead 2.32.2 true pelvic organ prolapse Vaginal Vault Prolapses Prolapse, Vaginal Vault Prolapses, Urogenital Vault Prolapse, Vaginal Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Organ Prolapses, Pelvic Prolapses, Vaginal Vault true Urogenital Prolapses Prolapse, Urogenital Pelvic Organ Prolapses Vault Prolapses, Vaginal Urogenital Prolapse Prolapses, Pelvic Organ D056887 Vaginal Vault Prolapse Prolapse, Pelvic Organ Organ Prolapse, Pelvic elephantiasis true Elephantiasis is a result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the host’s immune response, and the numerous opportunistic infections and disorders that arise. podoconiosis http://en.wikipedia.org/wiki/Elephantiasis A form of elephantiasis in which no parasitic infection is detected. Helen Parkinson nonfilarial elephantiasis FEV/FEC ratio true Helen Parkinson Is the measurement of the ratio of forced expiratory volume (FEV) to forced vital capacity (FCV), used as a measure of pulmonary function. sexual dysfunction true Helen Parkinson http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Sexual_Dysfunction Disturbances in sexual desire and the psychophysiologic changes that characterize the sexual response cycle and cause marked distress and interpersonal difficulty. MRI defined brain infarct covert MRI infarct Helen Parkinson true An infarct detected by MRI and not determined to be clinically significant obsolete_thyrotoxic periodic paralysis use 'http://www.orphanet.org/rdfns#pat_id_11144' instead. New Label : Thyrotoxic periodic paralysis 2.32 http://en.wikipedia.org/wiki/Thyrotoxic_periodic_paralysis true Thyrotoxic periodic paralysis (TPP) is a condition featuring attacks of muscle weakness in the presence of hyperthyroidism (overactivity of the thyroid gland). Hypokalemia (a decreased potassium level in the blood) is usually present during attacks. The condition may be life-threatening if weakness of the breathing muscles leads to respiratory failure, or if the low potassium levels lead to cardiac arrhythmias (irregularities in the heart rate). If untreated, it is typically recurrent in nature. The condition has been linked with genetic mutations in genes that code for certain ion channels that transport electrolytes (sodium and potassium) across cell membranes. The main ones are the L-type calcium channel α1-subunit and potassium inward rectifier 2.6 it is therefore classified as a channelopathy The abnormality in the channel is thought to lead to shifts of potassium into cells, under conditions of high thyroxine (thyroid hormone) levels, usually with an additional precipitant. Treatment of the hypokalemia, followed by correction of the hyperthyroidism, leads to complete resolution of the attacks. It occurs predominantly in males of Chinese, Japanese, Vietnamese, Filipino, and Korean descent. TPP is one of several conditions that can cause periodic paralysis. true Helen Parkinson TPP vasuclar dementia Dementias, Vascular Arteriosclerotic Dementias Helen Parkinson true D015140 Vascular Dementias An imprecise term referring to dementia associated with CEREBROVASCULAR DISORDERS, including CEREBRAL INFARCTION (single or multiple), and conditions associated with chronic BRAIN ISCHEMIA. Diffuse, cortical, and subcortical subtypes have been described. (From Gerontol Geriatr 1998 Feb;31(1):36-44) pemphigus vulgaris Helen Parkinson true An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes. http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pemphigus_Vulgaris prion disease A group of genetic, infectious, or sporadic degenerative human and animal nervous system disorders associated with abnormal PRIONS. These diseases are characterized by conversion of the normal prion protein to an abnormal configuration via a post-translational process. In humans, these conditions generally feature DEMENTIA; ATAXIA; and a fatal outcome. Pathologic features include a spongiform encephalopathy without evidence of inflammation. The older literature occasionally refers to these as unconventional SLOW VIRUS DISEASES. (From Proc Natl Acad Sci USA 1998 Nov 10;95(23):13363-83) true Helen Parkinson D017096 obsolete_Gaucher disease true true Helen Parkinson Gaucher's disease is a genetic disease in which lipid accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow. Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher's disease may be treated with enzyme replacement therapy. The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease. The carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450 Gaucher's disease use 'http://www.orphanet.org/rdfns#pat_id_644' instead. New Label : Gaucher disease 2.32 coronary artery calcification Calcification of the coronary artery, used as a measure of coronary atherosclerosis, a risk factor for myocardial infarction. true Helen Parkinson carotid-femoral pulse wave velocity https://www.google.com/calendar/render?tab=mc Carotid-femoral pulse wave velocity (CFPWV) is a heritable measure of aortic stiffness that is strongly associated with increased risk for major cardiovascular disease events. Helen Parkinson measurement metabolite measurement metabolite levels The quantification of some metabolite. This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class. Helen Parkinson metabolite traits metabolite Any intermediate or product resulting from metabolism. Helen Parkinson serum amyloid A protein measurement Helen Parkinson true http://en.wikipedia.org/wiki/Amyloid_A Is the quantification of serum amyloid A protein in serum and is a family of apolipoproteins associated with high-density lipoprotein (HDL) in plasma. Different isoforms of SAA are expressed constitutively (constitutive SAAs) at different levels or in response to inflammatory stimuli (acute phase SAAs). vitamin measurement The quantification of some vitamin, typically from a body fluid such as blood. A vitamin is an organic compound required by an organism as a vital nutrient in limited amounts. An organic chemical compound (or related set of compounds) is called a vitamin when it cannot be synthesized in sufficient quantities by an organism, and must be obtained from the diet. http://en.wikipedia.org/wiki/Vitamin vitamin levels hormone measurement eye measurement true Helen Parkinson Is a quantification of some eye structure or property of an eye structure, such as corneal thickness. lipoprotein measurement Is the quantification of some lipoprotein Helen Parkinson anti-cyclic citrullinated peptide antibody measurement Is a quantification of anti-cyclic citrullinated peptide antibody, these are associated with rheumatoid arthritis. true Helen Parkinson serum alanine aminotransferase measurement alanine transaminase measurement true alanine aminotransferase measurement Helen Parkinson Is a quantification of serum alanine aminotransferase, most commonly found in liver, the test is used in ascertainment of liver function. aspartate aminotransferase measurement Is a quantification of aspartate aminotransferase, and is commonly used as a marker for liver function. Aspartate transaminase measurement http://en.wikipedia.org/wiki/Aspartate_transaminase carotenoid measurement true Is a of quantification some carotenoid, typically in blood. These are lipid based compounds derived from chloroplasts and chromoplasts of plants and some other photosynthetic organisms. Consumption of a diet rich in carotenoids is reported to have health benefits for human populations. http://en.wikipedia.org/wiki/Carotenoid tocopherol measurement Helen Parkinson Is a quantification of some tocopherol, typically in blood. Some tocopherols have Vitamin E function (note that tocotrienols also have vitamin E function). true circulating cell free DNA measurement circulating cell free DNA levels true circulating cell free DNA level http://www.ncbi.nlm.nih.gov/pubmed/21990379 Is a quantification of circulating cell free DNA measured in blood used as an indicator of cell death and as an indicator of disease, for example some tumour types release this. http://www.ncbi.nlm.nih.gov/pubmed/22511988 blood urea nitrogen measurement true Helen Parkinson Is a quantification of blood urea nitrogen used in the measure of renal function. renal system measurement facial morphology Helen Parkinson Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located. true http://purl.obolibrary.org/obo/VT_0003743 matrix metalloproteinase measurement Is a quantification of matrix metalloproteinases, Collectively, they are capable of degrading all kinds of extracellular matrix proteins, but also can process a number of bioactive molecules. They are known to be involved in the cleavage of cell surface receptors, the release of apoptotic ligands (such as the FAS ligand), and chemokine/cytokine in/activation.[3] MMPs are also thought to play a major role on cell behaviors such as cell proliferation, migration (adhesion/dispersion), differentiation, angiogenesis, apoptosis, and host defense. true Helen Parkinson http://en.wikipedia.org/wiki/Matrix_metalloproteinase NT-proBNP measurement http://en.wikipedia.org/wiki/NT-proBNP Helen Parkinson true Is a quantification of NT-proBNP (N-terminal prohormone of brain natriuretic peptide) which is associated with acute congestive heart failure. lipoprotein-associated phospholipase A(2) measurement true http://www.ncbi.nlm.nih.gov/pubmed/20442857 Helen Parkinson Is a quantification of Lipoprotein-associated phospholipase A(2). It is involved in the process of arthrosclerosis and is a cardiovascular disease biomarker. Lipoprotein-associated phospholipase A(2) levels Lipoprotein-associated phospholipase A(2) level protein measurement protein levels Is a quantification of some protein, typically obtained from an individual with the intention of using the measurement in some diagnostic process. true This is a general class for any measurement of a protein. Do not annotate to this class, request a more specific child term. Helen Parkinson thyroid stimulating hormone measurement Is a quantification of thyroid-stimulating hormone, a glycoprotein and hormone secreted from the pituitary which regulates the thryoid. http://en.wikipedia.org/wiki/Thyrotropin thyroid stimulating hormone level true thyroid stimulating hormone levels thyrotropin measurement Helen Parkinson CCL2 measurement monocyte chemoattractant protein-1 measurement chemokine CCL2 levels Is the quantification of Chemokine (C-C motif) ligand 2, involved in response to infection and inflammation. monocyte chemotactic protein-1 levels chemokine CCL2 level http://en.wikipedia.org/wiki/CCL2 true Helen Parkinson monocyte chemotactic protein-1 measurement monocyte chemotactic protein-1 level interleukin 10 measurement interleukin 10 levels Is a quantification of interleukin 10, typically in blood. Inhibits the synthesis of a number of cytokines, including IFN-gamma, IL-2, IL-3, TNF and GM-CSF produced by activated macrophages and by helper T-cells. true Helen Parkinson http://www.uniprot.org/uniprot/P22301 CCL4 measurement macrophage inflammatory protein-1b Chemokine (C-C motif) ligand 4 measurement Chemokine (C-C motif) ligand 4 levels Is the quantification of Chemokine (C-C motif) ligand 4, involved in response to infection and inflammation, chemoattractant for natural killer cells, monocytes and a variety of other immune cells. Chemokine (C-C motif) ligand 4 level true http://en.wikipedia.org/wiki/CCL4 parathyroid hormone measurement true Is the quantification of parathyroid hormone, typically in blood. The protein encoded by this gene is a hormone secreted by parathyroid cells. This hormone elevates blood Ca2+ level by dissolving the salts in bone and preventing their renal excretion. Defects in this gene are a cause of familial isolated hypoparathyroidism (FIH) (RefSeq) Helen Parkinson http://www.ncbi.nlm.nih.gov/nuccore/NM_000315.2 interleukin 12 measurement http://en.wikipedia.org/wiki/Interleukin_12 Helen Parkinson true Is a quantification of interleukin 12. Interleukin 12 (IL-12) is an interleukin that is naturally produced by dendritic cells, macrophages and human B-lymphoblastoid cells (NC-37) in response to antigenic stimulation. interleukin 1 receptor antagonist measurement Is a quantification of Interleukin 1 Receptor Antagonist (IL1-RA). Inhibits the activity of interleukin-1 by binding to receptor IL1R1 and preventing its association with the coreceptor IL1RAP for signaling. Has no interleukin-1 like activity. Binds functional interleukin-1 receptor IL1R1 with greater affinity than decoy receptor IL1R2; however, the physiological relevance of the latter association is unsure Helen Parkinson true http://www.uniprot.org/uniprot/P18510 t-tau measurement Is a quantification of total tau protein, a biomarker for Alzheimer's disease. true Helen Parkinson uric acid measurement uric acid level true Helen Parkinson uric acid levels Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease. vascular endothelial growth factor measurement Is a quantification of VEGF, a growth factor involved in angiogenesis and a biomarker for cancer. p-tau measurement true Is a quantification of phosphorylated tau protein, used as a biomarker for Alzheimer's disease. Helen Parkinson adipose tissue measurement Is a quantification of some aspect of adipose tissue, for example used in the diagnosis and research into obesity. Helen Parkinson true visceral adipose tissue measurement Helen Parkinson Is a quantification of a particular location of adipose tissue. true subcutaneous adipose tissue Helen Parkinson Is a quantification of a particular location of adipose tissue. true visceral:subcutaneous adipose tissue ratio true Is a quantification of visceral to subcutaneous adipose tissue. Helen Parkinson follicle stimulating hormone measurement Is a quantification of follicle stimulating hormone. ollicle-stimulating hormone (FSH) is a hormone found in humans and other animals. It is synthesized and secreted by gonadotrophs of the anterior pituitary gland. FSH regulates the development, growth, pubertal maturation, and reproductive processes of the body. FSH and luteinizing hormone (LH) act synergistically in reproduction. Specifically, an increase in FSH secretion by the anterior pituitary causes ovulation. FSH measurements are used as a biomarker of oocyte reserve. FSH levels true follicle stimulating hormone level follicle stimulating hormone levels FSH level http://en.wikipedia.org/wiki/Follicle-stimulating_hormone Helen Parkinson anti-Mullerian hormone measurement true anti-Mullerian hormone levels Helen Parkinson http://www.repromed.com.au/custom/files/AMH%20Information%20Sheet%20for%20Doctors%203.4.09.pdf Is a quantification of anti_Mullerian hormone, and is used as a biomarker of ovarian reserve. The AMH is produced by the granulosa cells of the early developing antral follicles. These are the immature eggs that wake up from their dormant state and develop into mature eggs. As the number of oocytes decline, the number of small antral follicles decline in number and the serum Anti-Mullerian hormone level falls. anti-Mullerian hormone level ovarian reserve http://en.wikipedia.org/wiki/Ovarian_reserve Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones. true Helen Parkinson visual cortical surface area measurement true http://www.ncbi.nlm.nih.gov/pubmed/22343285 Is a quantification of the surface area of the visual cortex, it is variable and heritable, and is correlated with visual acuity and visual perception. early onset hypertension true A form of hypertension with early onset relative to normal range for a given population. chewing tobacco behavior Mastication of tobacco, correlated with an increased risk of oral cancers. Helen Parkinson true toxic epidermal necrolysis An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure. Helen Parkinson MSH:D004816 true alcohol and nicotine codependence true Helen Parkinson A drug dependence that is the physiological result of being addicted to alcohol and nicotine. http://www.ncbi.nlm.nih.gov/pubmed/22488850 alcohol withdrawal alcohol withdrawal syndrome Helen Parkinson http://purl.obolibrary.org/obo/DOID_13843 self rated health true Helen Parkinson The process of questioning an individual, usually by means of a survey to determine general health. self reported health CHAOS measure http://www.acf.hhs.gov/programs/opre/ehs/perf_measures/reports/resources_measuring/res_meas_phih.html The CHAOS scale is a questionnaire filled out by parents that is designed to assess the level of confusion and disorganization in the child’s home environment. true CHAOS score Helen Parkinson CHAOS scale DSM-IV-based social scale A measure of non social behaviour used in behavioral studies to examine autistic like traits. true A measure of social behaviour used in behavioral studies to examine autistic like traits. Helen Parkinson DSM-IV-based non-social scale Helen Parkinson A measure of non social behaviour used in behavioral studies to examine autistic like traits. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797846/? mental or behavioral disorder measurement Helen Parkinson true A measure of an individual or population behaviour e.g. by adminsistration of a questionaire. TEMPS-A questionnaire true Helen Parkinson Temperament Evaluation of Memphis, Pisa, Paris, and San Diego Autoquestionnaire (TEMPS-A). The TEMPS-A is designed to assess lifelong, milder aspects of bipolar symptomatology and defines five temperaments: hyperthymic, dysthymic, cyclothymic, irritable, and anxious. http://www.ncbi.nlm.nih.gov/pubmed/22365631 self reported educational attainment true A measure of educational progress reported using a questionnaire based approach, often used as a proxy for cognitive performance as the two are correlated. Helen Parkinson South Texas Assessment of Neurocognition true http://www.glahngroup.org/research/neuropsychology/ Helen Parkinson The South Texas Assessment of Neurocognition (STAN) is a 90-min primarily computerized battery of standard and experimental neuropsychological tests. The STAN combines software developed for psychological experimentation (E-Prime) and database software (Microsoft ACCESS) with a user interface developed in visual basic to provide a fully automated testing environment which logs subject information, administers tests in a pre-defined order and databases subject performance at the completion of each test. Mini-International Neuropsychiatric Interview Helen Parkinson The Mini-international neuropsychiatric interview is a short structured clinical interview which enables researchers to make diagnoses of psychiatric disorders according to DSM-IV (Diagnostic and Statistical Manual of Mental Disorders) or ICD-10. The administration time of the interview is approximately 15 minutes and was designed for epidemiological studies and multicenter clinical trials. http://en.wikipedia.org/wiki/Mini-international_neuropsychiatric_interview true atrial natriuretic factor measurement http://en.wikipedia.org/wiki/Atrial_natriuretic_factor MSH:D017461 Helen Parkinson true Is a quantification of the 126-amino acid C-terminal fragment of the ANP precursor, an approximately 150-amino acid polypeptide in a number of species. It is formed by the removal of the N-terminal signal sequence ANP (1-24). This prohormone contains various active ANF sequences. ANF is is a powerful vasodilator, and a protein (polypeptide) hormone secreted by heart muscle cells.[1][2][3] It is involved in the homeostatic control of body water, sodium, potassium and fat (adipose tissue). CD40 ligand measurement Is a quantification of CD40 ligand, primarily expressed on activated CD4+ T lymphocytes. D023201 CD154 ligand measurement Helen Parkinson http://en.wikipedia.org/wiki/CD40_ligand tissue plasminogen activator measurement http://www.uniprot.org/uniprot/P00750 true Is a quantification of tissue plasminogen activator, an enzyme which converts the abundant, but inactive, zymogen plasminogen to plasmin by hydrolyzing a single Arg-Val bond in plasminogen. By controlling plasmin-mediated proteolysis, it plays an important role in tissue remodeling and degradation, in cell migration and many other physiopathological events. Play a direct role in facilitating neuronal migration. Helen Parkinson plasminogen activator inhibitor 1 measurement Is a quantification of plasminogen activator inhibitor 1 a serine protease inhibitor. This inhibitor acts as 'bait' for tissue plasminogen activator, urokinase, protein C and matriptase-3/TMPRSS7. Its rapid interaction with PLAT may function as a major control point in the regulation of fibrinolysis http://www.uniprot.org/uniprot/P05121 true Helen Parkinson skin sensitivity to sun true The response of human skin to sun exposure. Helen Parkinson obsolete_freckling true duplicate Helen Parkinson Development of pigmented spots on the skin due to accumulation of melanin resulting from exposure to sunlight HP:0001480 true obsolete_Li-Fraumeni syndrome Helen Parkinson MSH:D016158 Li-Fraumeni syndrome is a rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA. use 'http://www.orphanet.org/rdfns#pat_id_196' instead. New Label : Li-Fraumeni syndrome true 2.32 true copy number variation Helen Parkinson true http://purl.org/obo/owl/SO#SO_0001019 A quantification of a genomic variation that increases or decreases the copy number of a given region. cholelithiasis Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS). Helen Parkinson true MSH:D002769 frontal theta oscillation measurement Helen Parkinson true Is a quantification of frontal theta event related oscillations, determined by target processing in an oddball paradigm. http://www.ncbi.nlm.nih.gov/pubmed/22554406 family size Helen Parkinson Is a quantification of family size, also used as a measure of male fertility. true male fertility http://purl.obolibrary.org/obo/PATO_0000279 A fertility quality of inhering in a male by virtue of the bearer's disposition to initiate, sustain, or support reproduction. birth rate true Is a quantification of birth rate, te ratio of live births in an area to the population of that area, expressed per 1000 people in the population per year. Also used as a measure of male fertility Helen Parkinson formal thought disorder Formal thought disorder (FTD), or disorganized speech, is one of the central signs of schizophrenia http://www.ncbi.nlm.nih.gov/pubmed/22648509 true Helen Parkinson asbestos exposure measurement Is a quantification of some asbestos exposure, true http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Asbestos_Exposure Helen Parkinson short sleep http://www.ncbi.nlm.nih.gov/pubmed/22322875 Helen Parkinson Is a quantification of sleep time in humans where average sleep time was less than five hours. true L lactate dehydrogenase measurement Helen Parkinson http://en.wikipedia.org/wiki/Lactate_dehydrogenase Is a quantification of L lactate dehydrodgenase, typically measured in serum, used as a marker of tissue breakdown as LDH is abundant in red blood cells and can function as a marker for hemolysis true fructose-bisphosphate aldolase measurement http://en.wikipedia.org/wiki/Fructose-bisphosphate_aldolase Is a quantification of Fructose-Bisphosphate Aldolase,is an enzyme catalyzing a reversible reaction that splits the aldol, fructose 1,6-bisphosphate, into the triose phosphates dihydroxyacetone phosphate (DHAP) and glyceraldehyde 3-phosphate (GAP). Helen Parkinson true interleukin-6 measurement http://en.wikipedia.org/wiki/Interleukin-6 Is a quantification of interleukin-6, a pro-inflammatory and anti-inflammatory cytokine. true IL-6 level IL-6 levels Helen Parkinson IL-6 measurement interleukin-8 measurement IL-8 measurement Is a quantification of interleukin-8, is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies. IL-8 is secreted and is an important mediator of the immune reaction in the innate immune system response. IL-8 levels http://en.wikipedia.org/wiki/Interleukin_8 IL-8 level Helen Parkinson true interleukin-1 beta measurement true http://en.wikipedia.org/wiki/Interleukin-1_beta Helen Parkinson Is a quantification of interleukin-1 beta, an IL-1 cytokine family protein, secreted by macrophages and a mediator of inflammatory response. alpha globulin measurement This is a container class for the alpha globulins, which will be child terms of it. E.g. haptoglobin, see also: α1-antitrypsin Alpha 1-antichymotrypsin Orosomucoid (acid glycoprotein) Serum amyloid A Alpha 1-lipoprotein [edit]Alpha 2 globulins Haptoglobin Alpha-2u globulin α2-macroglobulin Ceruloplasmin Thyroxine-binding globulin Alpha 2-antiplasmin Protein C Alpha 2-lipoprotein Angiotensinogen true Helen Parkinson Is a quantification of any of the alpha globulin class of proteins, typically in serum. MSH:D000510 interleukin-6 receptor measurement Is a quantification of the IL-6 receptor (CD126), activation may lead to the regulation of the immune response, acute-phase reactions and hematopoiesis http://en.wikipedia.org/wiki/Interleukin-6_receptor http://www.uniprot.org/uniprot/P08887 Helen Parkinson alpha macroglobulin measurement http://en.wikipedia.org/wiki/Alpha-macroglobulin Helen Parkinson Is a quantification of alphamacroglobulins 1 and/or 2, glycoproteins with a molecular weight of approximately 620,000 to 680,000. Precipitation by electrophoresis is in the alpha region. They include alpha 1-macroglobulins and alpha 2-macroglobulins. These proteins exhibit trypsin-, chymotrypsin-, thrombin-, and plasmin-binding activity and function as hormonal transporters. Chronic kidney disease can result in the leakage of alphamacroglobulins into the blood. true transforming growth factor beta measurement true Is a quantification of any of the TF1b isoforms, TGF-beta acts as an antiproliferative factor in normal epithelial cells and at early stages of oncogenesis. http://en.wikipedia.org/wiki/Transforming_growth_factor_beta Helen Parkinson resistin measurement Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies resistin level Helen Parkinson true resistin levels sex ratio MSH:D012744 Helen Parkinson The ratio of males to females for live births perception of facial expression true The perception of facial expression Helen Parkinson http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410629/ behavior or behavioral disorder measurement true Measurements used to quantify, or assess human behaviour or disorderd behaviours. temperament and character inventory An inventory for personality traits devised by Cloninger et al. Traits scored include: Novelty Seeking (NS) Harm Avoidance (HA) Reward Dependence (RD) Persistence (PS) Self-Directedness (SD) Cooperativeness (CO) Self-Transcendence (ST) Helen Parkinson true anti-neutrophil antibody associated vasculitis Helen Parkinson MSH:DO56648 true Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls. economic and social preference Human economic and social preferences determined by application of a survey or questionnaire. true Helen Parkinson genetic variation true The genetic variation of individuals in a population. Helen Parkinson response to irinotecan Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an irinotecan stimulus. Irinotecan prevents DNA from unwinding by inhibition of topoisomerase 1. In chemical terms, it is a semisynthetic analogue of the natural alkaloid camptothecin ts main use is in colon cancer, in particular, in combination with other chemotherapy agents. This includes the regimen FOLFIRI, which consists of infusional 5-fluorouracil, leucovorin, and irinotecan. http://en.wikipedia.org/wiki/Irinotecan true Helen Parkinson caudate nucleus volume true The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders Helen Parkinson RR interval Helen Parkinson true A RR interval is an electrocardiography measurement - R wave to R wave interval (RR interval) and is the inverse of the heart rate. optic disc size measurement Helen Parkinson Is a quantification of the optic disk size. true neutrophil count Helen Parkinson true Is a quantification of neutrophils in blood. obsolete_alcohol consumption true Helen Parkinson Is a quantification of alcohol consumed by a human. duplicate true calcium measurement calcium levels Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation. true http://en.wikipedia.org/wiki/Blood_calcium#Measurement Helen Parkinson CD4:CD8 lymphocyte ratio Is the ratio of CD4 vs. CD8 lymphocytes, abormal ratios may reflect an infection such as HIV. Helen Parkinson true cortical thickness http://www.ncbi.nlm.nih.gov/pubmed/21810643 Helen Parkinson Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease. true digit length ratio Is the ratio of 2D:4D used a a marker for prenatal androgen exposure. true Helen Parkinson http://www.ncbi.nlm.nih.gov/pubmed/20303062 eosinophil count true Helen Parkinson Is a quantification of eosinphils in blood. vitamin B measurement true Helen Parkinson Is a quantification of any or all of the B vitamins hip bone size true Helen Parkinson Is a quantification of the size of a human hip bone. magnesium measurement true Helen Parkinson Is a quantification of magnesium in serum. serotonin measurement Helen Parkinson true Is the quantification of circulating serotonin (5HT), a monoamine neurotransmitter age at onset Helen Parkinson true The age at which some process, or disease started in a human individual. vitamin A measurement Is the quantification of any vitamin A compound. true Helen Parkinson abdominal aortic artery calcification Calcification of the abdominal aortic artery, used as an indicator of sub clinical athrosclerosis true Helen Parkinson common carotid intimal medial thickness Is a quantification of the common carotid intimal medial thickness. true Helen Parkinson phosphorus measurement true Is the quantification of serum phosphorus Helen Parkinson phytosterol measurement Is the quantification of phytosterol, plant derived cholesterol like compounds. true Helen Parkinson recombination rate Helen Parkinson Is the genome wide recombination rate. true renal sinus adipose tissue measurement Helen Parkinson Is the quantification of adipose tissue located in the renal sinus(es), correlated with chronic kidney disease and obesity. true thyroid volume Is a quantification of the volume of the thyroid. Helen Parkinson true autoantibody measurement http://en.wikipedia.org/wiki/Autoantibody Is a quantification of an autoantibody, an antibody produced by the immune system and directed against an individual's own protein. e.g. anti-islet autoantibodies. http://www.ncbi.nlm.nih.gov/pubmed/21829393 true Helen Parkinson vitamin E measurement Is a quantification of vitamin E. true Helen Parkinson volumetric brain MRI Is a quantification of brain volume using magnetic resonance imaging. true Helen Parkinson YKL40 measurement CHI3L1 measurement true Chitinase-3-like protein 1 measurement CHI3L1 levels Is a quantification of the secreted glycoprotein YKL-40 (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression. Chitinase-3-like protein 1 levels Helen Parkinson http://en.wikipedia.org/wiki/CHI3L1 YKL-40 levels sleep measurement Helen Parkinson true Is a quantification of some sleep parameter. inflammatory marker measurement Is a quantification of any molecule involved in the process of inflammatory response. A container class for inflammatory biomarker measurements, populated by selecting all human proteins annotated with inflammatory response, or a child term, and including measurements of these proteins in this class. Only protein-GO term associations with a curated evidence code were considered, so IEA for e.g. were excluded. Helen Parkinson cytokine measurement Helen Parkinson Is a quantification of some cytokine, secreted cell signalling molecules. true memory performance Helen Parkinson http://purl.bioontology.org/ontology/SNOMEDCT/363888004 true Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease. mathematical ability Is the mental process necessary to acquire knowledge or skill in the measurement, properties, and relationships of quantities and sets, using numbers and symbols (mathematics) Helen Parkinson true http://purl.bioontology.org/ontology/CSP/2483-1658 urinary arsenic measurement true Is the quantification of arsenic ini urine. Helen Parkinson asparaginase hypersensitivity true Helen Parkinson Is an allergy to asaparaginase. Asparaginase is an enzyme isolated from the bacterium Escherichia coli or the bacterium Erwinia carotovora with antileukemic activity obsolete_avelline corneal dystrophy Granular corneal dystrophy type II true true http://en.wikipedia.org/wiki/Granular_corneal_dystrophy_type_II Is a rare form of human corneal dystrophy. It is caused by mutations in the TGFBI gene encoding the protein keratoepithelin, and is inherited in an autosomal dominant pattern 2.32 Helen Parkinson use 'http://www.orphanet.org/rdfns#pat_id_13980' instead. New Label : Granular corneal dystrophy type II obsolete_Blepharophimosis-Ptosis-Epicanthus inversus syndrome http://purl.obolibrary.org/obo/DOID_14778 A rare genetic disorder in which the eyelids are abnormally shaped true use 'http://www.orphanet.org/rdfns#pat_id_238' instead. New Label : Blepharophimosis-epicanthus inversus-ptosis true 2.32 Helen Parkinson breast size Is a quantification of some aspect of breast size true mammary gland size Helen Parkinson early cardiac repolarization measurement Helen Parkinson http://circ.ahajournals.org/content/124/20/2185 Early repolarization pattern (ERP) is a common ECG variant, characterized by J point elevation manifested either as terminal QRS slurring (the transition from the QRS segment to the ST segment) or notching (a positive deflection inscribed on terminal QRS complex) associated with concave upward ST-segment elevation and prominent T waves in at least two contiguous leads. true intra cranial volume intracranial volume true Helen Parkinson Is a quantification of intracranial volume. maximal oxygen uptake measurement true maximal aerobic capacity peak oxygen uptake VO2 max maximal oxygen consumption Helen Parkinson maximal oxygen uptake Is the quantification of is the maximum capacity of an individual's body to transport and use oxygen during incremental exercise, and is used as an indicator of physical fitness post operative nausea and vomiting Emesis and queasiness occurring after anesthesia. Helen Parkinson MSH:D020250 true postoperative ventricular dysfunction true http://www.ncbi.nlm.nih.gov/pubmed/21980348 Helen Parkinson Postoperative ventricular dysfunction (VnD) occurs in 9-20% of coronary artery bypass graft (CABG) surgical patients and is associated with increased postoperative morbidity and mortality. anti-social behavior true Helen Parkinson http://purl.bioontology.org/ontology/RCD/X765z callous character true http://purl.bioontology.org/ontology/RCD/Xa3ZI Consistent lack of empathy Helen Parkinson Sasang constitutional medicine http://www.biomedcentral.com/1472-6882/12/85/abstract Helen Parkinson true Sasang constitutional medicine (SCM) is a unique form of traditional Korean medicine that divides human beings into four constitutional types (Tae-Yang: TY, Tae-Eum: TE, So-Yang: SY, and So-Eum: SE), which differ in inherited characteristics, such as external appearance, personality traits, susceptibility to particular diseases, drug responses, and equilibrium among internal organ functions. testicular dysgenesis syndrome Helen Parkinson http://www.ncbi.nlm.nih.gov/pubmed/22140272 true A syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis. tetralogy of fallot true A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS.) Helen Parkinson MSH:D013771 Tourette syndrome Helen Parkinson true MSH:D005879 A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a general medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79) Tourette's syndrome Yoruba James Malone The Yoruba people are one of the largest ethnic groups in West Africa. http://en.wikipedia.org/wiki/Yoruba_people YRI Northern and Western European CEU Population of northern and western European ancestry. James Malone European HapMap cell line probe design element The probe which is used in an assay such as an array for detecting sequence or gene expression levels. James Malone obsolete_hereditary genetic disorder true James Malone A hereditary genetic disorder is a genetic disorder in which an abnormality, i.e. mutation, of a gene or gene has occurred resulting in a diseased state which is directly inherited. superceded by orphanet import induced pluripotent stem cell iPS cell Induced pluripotent stem cells (iPS cells or iPSCs) are a type of pluripotent stem cell artificially derived from a non-pluripotent cell. Various methods exist to revert cells to pluripotency such as reprogramming mediated through a mature metaphase II oocyte as in somatic cell nuclear transfer. Submitted by Nancy Mah James Malone metastasis to lymph node James Malone A type of carcinoma which has spread to lymph nodes from some other primary cancer site. lymph node metastasis testosterone measurement testosterone level testosterone levels true is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone. dihydrotestosterone measurement is a quantification of dihydrotestosterone (DHT), typically in serum. Dihydrotestosterone is a steroid hormone, a small percentage of testosterone is reduced to DHT which has a greater affinity for androgen receptors. true dihydrotestosterone levels CYP3A4 activity true CYP3A4 enzyme activity is a quantification of cytochrome P450 3A4 activity. CP4503A4 is a heme-thiolate monooxygenases induced in response to drugs, pesticides and carcinogens (Uniprot definition). familial hypercholesterolemia Familial hypercholesterolemia is is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (OMIM) true serum IgA measurement IgA levels Is a quantification of immunoglobulin A, an antibody with a role in mucosal immunity. true lentiform nucleus measurement lentiform nucleus volume Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. lenticular nucleus measurement true facial neural processing true Is a quantification of the ability of humans to process different facial expressions, measured by MRI. vaspin measurement true Is a quantification of vaspin, commonly termed Serpin A12 (visceral adipose tissue-derived serine protease inhibitor) , typically in serum an adipokine which may modulate insulin activity in white adipose tissue (Uniprot). Serpin A12 measurement vaspin levels high throughput sequence alignment protocol Is a protocol which provides instructions on the alignment of sequencing reads to reference genome Natalja Kurbatova age at diagnosis The age, measured from some defined time point e.g. birth at which a subject (e.g. a human patient) is diagnosed with some disease e.g. breast cancer. Helen Parkinson http://purl.bioontology.org/ontology/SNOMEDCT/423493009 metastasis free survival Helen Parkinson metastasis free survival time The percentage of subjects in a study who have survived without cancer spread for a defined period of time. Usually reported as time since diagnosis or treatment. Can be reported for an individual or a study population. www.oncura.net/glossary.php progression free survival time before disease progression http://cancerguide.org/scurve_basic.html Helen Parkinson Progression free survival is a measurement from a defined time point e.g. diagnosis and indicates that the disease did not progress i.e. tumours did not increase in size and new incidences did not occur. PFS is usually used in analyzing results of treatment for advanced disease. GM00038 James Malone http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?Ref=GM00038&PgId=166 Apparently health human non-fetal tissue. GM00719 OMIM:208900 peripheral vein Any vein not in the chest or abdomen. James Malone obsolete_ataxia telangiectasia Louis–Bar syndrome 2.32 James Malone true use 'http://www.orphanet.org/rdfns#pat_id_104' instead. New Label : Ataxia-telangiectasia tumor stage Helen Parkinson Tumor stage as classified by the TNM system. T describes the size of the tumor and whether it has invaded nearby tissue, N describes regional lymph nodes that are involved, M describes distant metastasis (spread of cancer from one body part to another). All child terms imported from RadLex, with Radlex Xrefs. Closest classification to ArrayExpress type data. tumour stage http://en.wikipedia.org/wiki/TNM_staging_system M stage http://purl.bioontology.org/ontology/RID/RID39276 metastasis stage distant metastasis stage metastatic stage N stage lymph node stage regional lymph node stage http://purl.bioontology.org/ontology/RID/RID39278 http://purl.bioontology.org/ontology/RID/RID39275 T stage primary tumour stage primary tumor stage primary tumor staging http://purl.bioontology.org/ontology/RID/RID39274 Helen Parkinson M0 distant metastasis stage Helen Parkinson http://purl.bioontology.org/ontology/RID/RID39294 M1 distant metastasis stage Helen Parkinson http://purl.bioontology.org/ontology/RID/RID39295 MX distant metastasis stage http://purl.bioontology.org/ontology/RID/RID39294 Helen Parkinson N0 lymph node stage Helen Parkinson http://purl.bioontology.org/ontology/RID/RID39289 N1 lymph node stage http://purl.bioontology.org/ontology/RID/RID39293 Helen Parkinson N2 lymph node stage http://purl.bioontology.org/ontology/RID/RID39291 Helen Parkinson N3 lymph node stage http://purl.bioontology.org/ontology/RID/RID39292 Helen Parkinson NX lymph node stage http://purl.bioontology.org/ontology/RID/RID39290 Helen Parkinson T0 stage Helen Parkinson http://purl.bioontology.org/ontology/RID/RID39278 T1 tumor stage http://purl.bioontology.org/ontology/RID/RID39280 Helen Parkinson T2 tumor stage http://purl.bioontology.org/ontology/RID/RID39281 Helen Parkinson T3 tumor stage Helen Parkinson http://purl.bioontology.org/ontology/RID/RID39282 T3a tumor stage http://purl.bioontology.org/ontology/RID/RID39284 Helen Parkinson T3b tumor stage Helen Parkinson http://purl.bioontology.org/ontology/RID/RID39285 T3c tumor stage Helen Parkinson http://purl.bioontology.org/ontology/RID/RID39286 T4 tumor stage http://purl.bioontology.org/ontology/RID/RID39283 Helen Parkinson T4a tumor stage http://purl.bioontology.org/ontology/RID/RID39287 Helen Parkinson T4b tumor stage http://purl.bioontology.org/ontology/RID/RID39288 Helen Parkinson Tis http://purl.bioontology.org/ontology/RID/RID39279 Helen Parkinson Carcinoma in situ (CIS; abnormal cells are present but have not spread to neighboring tissue; although not cancer, CIS may become cancer and is sometimes called preinvasive cancer) TX http://purl.bioontology.org/ontology/RID/RID39277 A stage in which the tumor cannot be evaluated Helen Parkinson clinical temporal measurement A temporal measurement related to disease progression Helen Parkinson clinical event date of birth The point in time at which an individual was born. Helen Parkinson alive at endpoint A clinical temporal measurement indicating that the subject is alive at the end of the clinical investigation. Helen Parkinson disease recurrence relapse The recurrence of a disease after treatment Helen Parkinson date of diagnosis Helen Parkinson The point at which a clinical diagnosis is made. melanoma staging Helen Parkinson Staging information for melanoma. Breslow thickness Breslow's thickness The measurement in millimeters of the vertical thickness of primary cutaneous melanoma. Breslow thickness is measured from the granular layer of the epidermis, or the ulcer base (if ulcerated), to the deepest tumor cells. It is used in staging of melanoma. (NCI) http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Breslow_Thickness Clark level A morphologic finding indicating the cutaneous melanoma depth of invasion into the dermis and subcutaneous tissue. OR A system for describing how deep melanoma has spread into the skin. Levels I-V describe the layers of skin involved.NCI-GLOSS http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level Helen Parkinson Clark level I Clark level I melanoma A morphologic finding indicating that the cutaneous melanoma is confined to the epidermis and does not invade the dermis. http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_I Helen Parkinson Clark level II Clark level II melanoma http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_II Helen Parkinson A morphologic finding indicating that the cutaneous melanoma has invaded part of the papillary dermis but the malignant cellular infiltrate has not reached the papillary-reticular dermis interface. Clark level III A morphologic finding indicating that the cutaneous melanoma has invaded the entire thickness of the papillary dermis but the malignant cellular infiltrate does not extend into the reticular dermis. Clark level 1 melanoma Helen Parkinson http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_III Clark level IV A morphologic finding indicating that the cutaneous melanoma has invaded the reticular dermis Helen Parkinson http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_IV Clark level V Helen Parkinson http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Clark_Level_V A morphologic finding indicating that the cutaneous melanoma has invaded the subcutaneous tissue. Clark level V melanoma gene knock in http://purl.obolibrary.org/obo/OBI_0001149 a genetic transformation that involves the insertion of a protein coding cDNA sequence at a particular locus in an organism's chromosome. Typically, this is done in mice since the technology for this process is more refined, and because mouse embryonic stem cells are easily manipulated. The difference between knock-in technology and transgenic technology is that a knock-in involves a gene inserted into a specific locus, and is a "targeted" insertion. total RNA Modified from original OBI term to include more than just organelle RNA. A RNA extract that is the output of an extraction process in which total RNA from either whole cells or from specific cellular compartment(s)/organelle(s) are isolated from a specimenA RNA extract that is the output of an extraction process in which total celluar and organelle RNA molecules are isolated from a specimen. http://purl.obolibrary.org/obo/OBI_0000895 total RNA extract Alexa Fluor 647 Alexa Fluor 555 somatic genotype Helen Parkinson The total sum of the genetic information of an organism's somatic cells germline genotype The total sum of the genetic information of an organism's germline Helen Parkinson comprehensive strength index Compressive strength index (CSI) is a predictive measure for hip fracture risk that integrates multiple parameters including hip BMD, femur neck area, and weight. http://www.sciencedirect.com/science/article/pii/S8756328212011635 Helen Parkinson true appendicular lean mass true Helen Parkinson Appendicular lean mass is a measurement of skeletal strength of lower limbs and is used as a predictive measure of hip fracture. http://www.sciencedirect.com/science/article/pii/S8756328212011635 peridontal microbiome Helen Parkinson The peridontal microbiome is a collection of collectivity of microorganisms isolated from human gum. true microbiome Helen Parkinson A collection or collectivity of microorganisms. complement C3 measurement Helen Parkinson Complement C3 measurement is a quantification of the C3 glycoprotein typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes. complement C3 levels true complement C4 measurement Complement C4 measurement is a quantification of the C4 glycoprotein, typically in serum, that is central in both the classical and the alternative pathway of complement activation . Complement activation, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes. true complement C4 levels Helen Parkinson platelet reactivity measurement true Helen Parkinson A platelet reactivity measurement is the quantification of platelet reactivity e.g. by measuring platelet induced agglutination. High levels of platelet reactivity are reported to be associated with cardiovascular events. embryonal carcinoma Embryonal carcinoma is a germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum). NCI Theasurus:C3752 James Malone embryonal carcinoma cell James Malone A cell which bears embryonal carcinoma. embryoid body Embryoid bodies (EBs) are three-dimensional aggregates of pluripotent stem cells. J1 J1 is an embryonic cell line. Myasthenia gravis MSH:D009157 A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459) true Otitis media NCI:C34885 An acute or chronic inflammatory process affecting the middle ear. James Malone middle ear inflammation inner ear inflammation true serum IgM measurement Is a quantification of immunoglobulin M, an antibody produced by B cells. IgM levels James Malone true lumbar disc degeneration true lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine. degenerative disc disorder degenerative disc disease James Malone lean body mass James Malone true SNOMED:248362003 The weight of all organs and tissue in an individual less the weight of the individual's body fat. type 1 diabetes nephropathy James Malone true Ruggenenti P and Remuzzi G (2000) Nephropathy of type 1 and type 2 diabetes: diverse pathophysiology, same treatment? Nephrology Dialysis Transplantation Volume 15, Issue 12Pp. 1900-1902. Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy. type 2 diabetes nephropathy James Malone true Ruggenenti P and Remuzzi G (2000) Nephropathy of type 1 and type 2 diabetes: diverse pathophysiology, same treatment? Nephrology Dialysis Transplantation Volume 15, Issue 12Pp. 1900-1902. Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking. carbohydrate measurement The quantification of some carbohydrate, typically obtained from an individual with the intention of using the measurement in some diagnostic process. true Dani Welter N-glycan measurement true N-glycan level Dani Welter The quantification of N-glycans in a plasma sample. leptin measurement phenylalanine measurement true The quantification of some phenylalanine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. Dani Welter lysine measurement Dani Welter true The quantification of some lysine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. 454 Sequencing 454 sequencing is a DNA sequencing using 454 technology from Roche, which allows sequencing of a single strand of DNA by synthesizing the complementary strand along it, one base pair at a time, and detecting which base was actually added at each step. The template DNA is immobilized, and solutions of A, C, G, and T nucleotides are added and removed after the reaction, sequentially. Light is produced only when the nucleotide solution complements the first unpaired base of the template. The sequence of solutions which produce chemiluminescent signals allows the determination of the sequence of the template. ssDNA template is hybridized to a sequencing primer and incubated with the enzymes DNA polymerase, ATP sulfurylase, luciferase and apyrase, and with the substrates adenosine 5-prime phosphosulfate (APS) and luciferin. http://purl.obolibrary.org/obo/OBI_0000730 pyrosequencing non polyA RNA Helen Parkinson A RNA extract that is the output of an extraction process in which RNA molecules without poly A tail at its 3’ end are purified. non poly adenylated RNA long non poly RNA Helen Parkinson A fractionylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16) Meijer et al, http://genomebiology.com/2011/12/2/R16 poly(A)+ RNA long poly A RNA Helen Parkinson poly(A)- RNA Meijer et al, http://genomebiology.com/2011/12/2/R16 A fraction of poly-adenylated RNA separated on the basis of length of the RNA molecule and adenylation state, typically 'long' refers to a transcript of 200nt plus in length (Meijer et al, http://genomebiology.com/2011/12/2/R16) collection latitude The latitude at which a sample was obtained. For example a sea water sample. Helen Parkinson collection longitude The longitude at which a sample was obtained. For example a sea water sample. Helen Parkinson adipose tissue derived mesenchymal stem cell A adult mesenchymal stem cell derived from adipose tisssue hMSC-AT human mesenchymal stem cell from adipose tissue Helen Parkinson placental pericyte A pericyte derived from the placenta. human pericytes from placenta Helen Parkinson hPC-PL anti-Bcl11a Natalja Kurbatova Bcl11a Anti-Bcl11a Antibody is used as B-cell lymphoma/leukemia 11A antibody Species: Human, Vertebrates Gene: BCL11A ENSG00000119866 http://www.bethyl.com/product/A300-380A/Bcl11a_Antibody?referrer=Bcl11a anti-H3K27-3Me H3K27-3Me Natalja Kurbatova Anti-trimethyl-Histone H3 (Lys27) Antibody Species: Human, Mouse Gene: HIST3H3 ENSG00000168148 http://www.millipore.com/catalogue/item/07-449 anti-H3k4-3Me H3k4-3Me Natalja Kurbatova Anti-trimethyl-Histone H3 (Lys4) Antibody Species: Human, Vertebrates Gene: HIST3H3 ENSG00000168148 http://www.millipore.com/catalogue/item/07-473 anti-IgG Anti-IgG Antibody. Immunoglobulin G antibodies are available in different forms on the market. General features: activate mammalian complements, bind to protein A or protein G. IgG Natalja Kurbatova input DNA Natalja Kurbatova Label for the immunoprecipitate when control assays are used for ChIP-seq experiments. Means that non-ChIP genomic DNA has been used to identify and adjust for sequencing biases. http://www.biomedcentral.com/1741-7007/8/56 IP-seq Natalja Kurbatova IP-seq is an assay in which immunoprecipitation with high throughput sequencing is used to identify the DNA/RNA-associated proteins or protein complexes. As an immunoprecipitation it can be ChIP, RIP or another immunoprecipitation process. RIP RNA-IP RNA immunoprecipitation Natalja Kurbatova http://en.wikipedia.org/wiki/Immunoprecipitation RNA Immunoprecipitation (RIP) is an experimental process used to investigate the interaction between proteins and RNA in the cell via the immunoprecipitation with an antibody that targets the protein of interest. By isolating the protein, the RNA will also be isolated as it is bound to the protein. The purified RNA-protein complexes can be separated by performing an RNA extraction and the identity of the RNA can be determined by cDNA sequencing or RT-PCR. anti-CTCF http://www.millipore.com/catalogue/item/07-729 Anti-CTCF antibody Species: Human, Mouse, Rat, Primate, Canine (depends on vendor) Gene: CTCF ENSG00000102974 Natalja Kurbatova hippocampal volume Dani Welter Measurement of the volume of the hippocampus true platelet measurement A measurement quantifying some platelet Dani Welter true aortic root size Dani Welter The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction true hair morphology Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals. Dani Welter http://purl.obolibrary.org/obo/VT_0000367 true hippocampal atrophy Atrophy of the hippocampus as a result of some external stress or disease Dani Welter true obsolete_response to temozolomide Replaced by a GO import Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a temozolomide stimulus. temozolomide is a an alkyalting/methylating agent used in the treatment of glioblastoma multiforme and melanoma. http://en.wikipedia.org/wiki/Temozolomide Helen Parkinson true cardiac troponin T measurement Is a quatification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction. cardiac troponin T level cardiac troponin T levels hs-cTnT levels true Leishmaniasis true Helen Parkinson Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly (subfamily Phlebotominae). http://en.wikipedia.org/wiki/Leishmaniasis visceral Leishmaniasis Helen Parkinson true Is a parasitic infection caused by protozoan parasites of the Leishmania genus. The parasites migrate to internal organs causing a severe form of the disease. cutaneous Leishmaniasis Is a parasitic infection of the skin caused by the Leishmania protozoan parasite Helen Parkinson true erythrocyte measurement Is a quantification of some aspect of erythrocyte function, quanity, or composition. true red blood cell measurement Helen Parkinson 454 GS 20 standard manufacturer's protocol The standard protocol supplied by the manufacturer of the 454 GS 20 sequencer for nucleic acid sequencing protocol. nervous system measurement internal carotid intimal medial thickness Dani Welter true Is a quantification of the internal carotid intimal medial thickness. QRS complex A QRS complex is a combination of the three electrocardiographical measurements of the Q, R and S waves in the heart's electrical cycle. Dani Welter true QRS duration Dani Welter QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle true age at death Dani Welter The age at which death occurs. true myoglobin measurement Dani Welter The determination of the amount of myoglobin present in a sample, usually blood true tyrosine measurement Dani Welter The quantification of some tyrosine, typically obtained from an individual with the intention of using the measurement in some diagnostic process. true acylcarnitine measurement Dani Welter The quantification of some acylcarnitine, typically obtained from the blood of an individual with the intention of using the measurement in some diagnostic process. true instrument part instrument component James Malone Any component which is used as part of an instrument. The part may be considered an instrument in it's own right (such as a thermometer which is part of a kiln) - instrument parts are not disjoint from instruments. substrate James Malone A substrate is the surface on which material, such as an organism, is grown or attached. glass substrate A subtrate made of glass. nylon substrate A substrate made on a nylon membrane. nitrocellulose substrate A substrate made of nitrocellulose. silicon substrate Substrate made of silicon. collection of material James Malone A grouping of some materials, including whole organisms or samples. Does not necessitate that the grouping is related in some way, so can include any arbitrary collection of materials. block A block or batch is an experimental unit arrangement into a group which is similar to one another. Typically, a blocking factor is a source of variability that is not of primary interest to the experimenter. An example of a blocking factor might be the sex of a patient; by blocking on sex, this source of variability is controlled for, thus leading to greater accuracy. batch James Malone array surface coating James Malone The surface used to coat the array substrate. MO_198 aminosilane substrate coating MO_747 An array substrate coating formed using aminosilane. James Malone polylysine substrate coating James Malone An array substrate coating formed using polylysine. MO_569 array reporter array oligo A reporter (sometimes 'probe' or 'oligo') is material such as single stranded DNA or an antibody, usually at a particular location on an array, onto which target material of interest is hybridized and quantified. Eleanor Williams array probe James Malone in situ oligo MO_514 A type of reporter which is created using in situ methods. in situ oligo probe spotted antibody reporter Type of array reporter which is formed from antibodies being spotted directly on to the array surface. MO_483 spotted colony reporter Type of array reporter formed from colonies (such as bacteria) are spotted directly on to the array surface. MO_618 spotted double stranded DNA reporter An array reporter formed from directly spotting double stranded DNA on to the array surface. MO_499 spotted protein reporter Type of array reporter which is formed from proteins being spotted directly on to the array surface. MO_996 spotted single stranded DNA PCR amplicon reporter MO_921 An array reporter created by directly spotting a single stranded DNA PCR product on to the array surface. spotted single stranded oligo reporter An array reporter created by directly spotting single stranded oligonucleotides on to the array surface. MO_579 CC16 measurement Clara cell secretory protein Dani Welter quantification of the pneumoprotein CC16 true surfactant protein D measurement Dani Welter SP-D measurement quantification of the pneumoprotein surfactant protein D true Illumina Genome Analyzer standard manufacturer's protocol The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer sequencer for nucleic acid sequencing protocol. Illumina Genome Analyzer II standard manufacturer's protocol The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer II sequencer for nucleic acid sequencing protocol. Illumina Genome Analyzer IIx standard manufacturer's protocol The standard protocol supplied by the manufacturer of the Illumina Genome Analyzer IIx sequencer for nucleic acid sequencing protocol. Illumina HiSeq 1000 standard manufacturer's protocol The standard protocol supplied by the manufacturer of the Illumina HiSeq 1000 sequencer for nucleic acid sequencing protocol. Illumina HiSeq 2000 standard manufacturer's protocol The standard protocol supplied by the manufacturer of the Illumina HiSeq 2000 sequencer for nucleic acid sequencing protocol. Illumina MiSeq standard manufacturer's protocol The standard protocol supplied by the manufacturer of the Illumina MiSeq sequencer for nucleic acid sequencing protocol. testicular carcinoma Dani Welter testicular cancer true whole-brain volume Dani Welter quantification of the total volume of the brain true basophil count Dani Welter quantification of basophils in the blood true monocyte count Dani Welter quantification of monocytes in the blood true entorhinal cortical volume Dani Welter quantification of the volume of the entorhinal cortex true hip circumference Dani Welter circumferential measurement of the largest part of the hip true P wave duration Dani Welter measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria. true PR segment Dani Welter measurement of the interval from the offset of the P wave to the onset of the QRS wave complex true abdomenal wall http://purl.obolibrary.org/obo/UBERON_0003697 wall of abdomen paries abdominalis wall of abdomen proper The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). bronchiole http://purl.obolibrary.org/obo/UBERON_0002186 the first airway branch that no longer contains cartilage; it is a branch of the bronchus[GO]. lobular bronchiole cortical collecting duct The cortical collecting duct is the portion of the collecting duct that resides in the renal cortex http://purl.obolibrary.org/obo/UBERON_0004203 stele http://purl.obolibrary.org/obo/PO_0025197 A cardinal organ part that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue. flag leaf http://purl.obolibrary.org/obo/PO_0020103 The last mature leaf before the inflorescence in a cereal crop plant. anther A collective plant organ structure (PO:0025007) that is the pollen-bearing part of a stamen (PO:0009029) http://purl.obolibrary.org/obo/PO_0009066 filament A stalk that is part of a stamen http://purl.obolibrary.org/obo/PO_0009067 antennal disc Posterior portion of the eye-antennal disc. It gives rise to the adult antennal segments and the maxillary palp, as well as contributing to the head capsule. http://purl.obolibrary.org/obo/FBbt_00001767 eye disc Anterior, bulbous portion of the eye-antennal disc that gives rise to the eye as well as contributing to the head capsule (Cohen, 1993). http://purl.obolibrary.org/obo/FBbt_00001768 lipid or lipoprotein measurement Dani Welter quantification of some lipid or lipoprotein true body composition measurement Dani Welter measurement of the percentages of fat, bone and muscle in human bodies true collective leaf structure Dani Welter PO:0025022 leaf whorl rosette arm span Dani Welter Distance between the tips of the longest fingers with the arms maximally outstretched laterally. true energy expenditure Dani Welter fatty acid measurement Dani Welter NCI:C80157 The determination of the amount of fatty acids present in a sample. true folic acid measurement A measurement of the folic acid in a biological sample Dani Welter NCI:C74676 folate measurement true vitamin B9 measurement gestational age Dani Welter MSH:D005865 The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. true head circumference A circumferential measurement of the head at the widest point, which is traditionally above the eyebrow Dani Welter NCI:C81255 true metabolic rate measurement Dani Welter a quantification of metabolic rate urinary metabolite measurement Dani Welter quantification of some metabolite in urine CCL5 measurement Dani Welter Is the quantification of Chemokine (C-C motif) ligand 5, involved in response to infection and inflammation, RANTES Regulated on Activation, Normal T cell Expressed and Secreted true IGFBP-1 measurement Dani Welter true antioxidant measurement Dani Welter quantification of some antioxidant in a biological sample true freeze dried specimen Dani Welter a specimen which is the output of some freeze drying process applied with the aim of perserving the specimen RNAlater specimen Dani Welter a specimen which has been treated with RNAlater, with the aim of preserving specimen RNA prior to extraction arylesterase enzyme measurement Dani Welter paraoxonase enzyme measurement quantification of the activity of enzymes from the arylesterase family true cancer biomarker measurement Dani Welter cancer biomarkers, such as cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein, are used as indicators for cancer screening and as predictors for therapeutic responses and prognoses in cancer patient true albumin:globulin ratio measurement Dani Welter quantification of the ratio of the protein albumin to globulin in the blood serum true hepatitis C induced liver cirrhosis Dani Welter liver injury resulting from hepatitis C infection true thyroxine measurement Dani Welter FT4 levels quantification of the thyroid hormone thyroxine (T4) in the blood, usually as an indicator of thyroid function true HVA measurement Dani Welter quantification of homovanillic acid in cerebrospinal fluid true 5-HIAA measurement Dani Welter quantification of 5-hydroxyindoleacetic acid in cerebrospinal fluid true MHPG measurement Dani Welter quantification of 3-methoxy-4-hydroxyphenylglycol in cerebrospinal fluid true amino acid measurement Dani Welter quantification of some amino acid in a biological assay true strain James Malone A population of organisms that is geneticaly different from others of the same species and possessing a set of defined characteristics. cultivar A cultivated plant variety selected and given a name because it has desirable characteristics that distinguish it from otherwise similar plants of the same species. conduction system disorder conduction system disease requested by James Ware A conduction system disorder, or disease is a form of heat disease in which the electrical conduction system of the heart is disrupted, for example branch block acquired long QT syndrome http://ceaccp.oxfordjournals.org/content/8/2/67.full Helen Parkinson, James Ware requested by James Ware A form of long QT syndrome in which malfunction of the cardiac ion channels is caused by drugs or metabolic abnormalities. Common genetic variation may influence susceptibility to acquired long QT syndrome. serum ceruloplasmin measurement Dani Welter Quantification of some ceruloplasmin in the blood serum ceruloplasmin levels true autoimmune disease Helen Parkinson http://purl.obolibrary.org/obo/OBI_1110054 Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease. Columbia ecotype The Col or Columbia ecotype is an Arabidopsis thaliana ecotype, selected, by Redei, as it was a particularly fertile and vigorous plant that responded well to changes in photoperiod. The ecotype was selected from within a (nonirradiated) population of seeds named Landsberg he received from Laibach. Columbia is the ecotype sequenced in the Arabidopsis Genome Initiative. James Malone http://arabidopsis.info/CollectionInfo?id=94 Col Col ecotype Col-0 Col-0 is an Arabidopsis ecotype and a direct descendant of Col-1 donated via AIS. Columbia-0 http://arabidopsis.info/CollectionInfo?id=94 James Malone Col-1 Col-1 is an Arabidopsis ecotype and the original AIS donation of Columbia (isolate 5-13) from George Redei. Columbia-1 http://arabidopsis.info/CollectionInfo?id=94 James Malone Col-2 Col-2 is an Arabidopsis ecotype and is a line that has been single seed selected from Col-1 and propagated through 5 generations of single seed descent by Shauna Somerville. James Malone Columbia-2 http://arabidopsis.info/CollectionInfo?id=94 Col-3 http://arabidopsis.info/CollectionInfo?id=94 James Malone Col-3 is an Arabidopsis ecotype and a line that Elliot Meyerowitz used for the RFLP mapping data and has shown polymorphisms in the hands of Chris Somerville to Col-2. It is also one of the female parents used by Jim Beynon, Eric Holub and Ian Crute for the generation of their RI population (the other being glabrous Col-5). Columbia-3 Col-4 http://arabidopsis.info/CollectionInfo?id=94 James Malone Col-4 is an Arabidopsis ecotype and is the line used as the parental for the recombinant inbred population of Caroline Dean. Columbia-4 Col-5 http://arabidopsis.info/CollectionInfo?id=94 Col-5 is an Arabidopsis ecotype and the glabrous (gl1-1) Columbia line used by Jim Beynon, Eric Holub and Ian Crute as one of the female parents (the other being Col-3) for the generation of their RI population. James Malone Columbia-5 Landsberg ecotype Landsberg erecta ecotype is an Arabidopsis thaliana ecotype. It was originally selected by Rédei from within a Landsberg population on which he had performed some X-ray mutagenesis experiments. James Malone Ler Landsberg erecta http://arabidopsis.info/CollectionInfo?id=94 Ler-1 Ler-1 is an Arabidopsis ecotype. Wassilewskija ecotype Wassilewskija is an Arabidopsis ecotype. Ws-1 Wassilewskija-1 Ws-1 is an Arabidopsis ecotype. Ws-2 Ws-2 is an Arabidopsis ecotype. Wassilewskija-2 Ws-3 Ws-3 is an Arabidopsis ecotype. Wassilewskija-3 Umkirch ecotype Umkirch is an Arabidopsis ecotype. Uk-1 Umkirch-1 Uk-1 is an Arabidopsis ecotype. Uk-2 Umkirch-2 Uk-2 is an Arabidopsis ecotype Uk-3 Uk-3 is an Arabidopsis ecotype. Umkirch-3 Calver ecotype Calver is an Arabidopsis ecotype. Cal-0 Cal-0 is an Arabidopsis ecotype. Calver-0 Blanes ecotype Blanes is an Arabidopsis ecotype. Bla-1 Blanes-1 Bla-1 is an Arabidopsis ecotype. wild type genotype Burren ecotype Burren is an Arabidopsis ecotype. Bur-0 Burren-0 Bur-0 is an Arabidopsis ecotype. Bologna ecotype Bologna is an Arabidopsis ecotype. Bl-0 Bl-0 is an Arabidopsis ecotype. Bologna-0 Bl-1 Bl-1 is an Arabidopsis ecotype. Bologna-1 Bayreuth ecotype Bayreuth is an Arabidopsis ecotype. Bay-0 Bayreuth-0 Bay-0 is an Arabidopsis ecotype. Coimbra ecotype Co Coimbra is an Arabidopsis ecotype. Co-1 Coimbra-1 Co-1 is an Arabidopsis ecotype. San Eleno ecotype San Eleno is an Arabidopsis ecotype. Se-0 San Eleno-0 Se-0 is an Arabidopsis ecotype CD1 mus strain http://www.criver.com/en-US/ProdServ/ByType/ResModOver/ResMod/Pages/CD-1Mouse.aspx CD-1 mus The original group of Swiss mice that served as progenitors of this stock consisted of two male and seven female albino mice derived from a non-inbred stock in the laboratory of Dr. de Coulon, Centre Anticancereux Romand, Lausanne, Switzerland. C57BL An inbred strain of mouse created in 1921 by C. C. Little at the Bussey Institute for Research in Applied Biology. N'Dama http://en.wikipedia.org/wiki/N'Dama Boenca N'Dama are a breed of cattle from West Africa, of the Bos taurus-type. Other names for them include Boenca or Boyenca (Guinea-Bissau), Fouta Jallon, Fouta Longhorn, Fouta Malinke, Futa, Malinke, Mandingo (Liberia), N'Dama Petite (Senegal). Originating in the Guinea highlands they are also found in southern Senegal, Guinea-Bissau, Gambia, Mali, Côte d'Ivoire, Liberia, Nigeria and Sierra Leone. They are trypanotolerant, allowing them to be kept in tsetse fly infested areas. They also show superior resistance to ticks and the diseases they carry and to Haemonchus contortus stomach worms. James Malone Boran cattle http://en.wikipedia.org/wiki/Boran_cattle Boran cattle are a popular Zebu beef breed in eastern Africa. DBA/2J Inbred Strain TJL Mating System: Sibling x Sibling (Female x Male) Species: laboratory mouse H2 Haplotype: d Generation: F219p (14-DEC-06) Appearance: dilute brown Related Genotype: a/a Tyrp1b/Tyrp1b Myo5ad/Myo5ad Important Note This strain is homozygous for Cdh23ahl, the age related hearing loss 1 mutation, which on this background results in progressive hearing loss that is already severe by 3 months of age. Strain Description DBA/2J is a widely used inbred strain that is valuable in a wide number of research areas including cardiovascular biology, neurobiology, and sensorineural research. James Malone Beck, J.A., et al., Genealogies of mouse inbred strains (2000), Nature, Jan2000, v24, p23 terminal ileum The terminal ileum is the most distal part of the small intestine. It connects to the cecum, the pouch between the small and the large intestine, via the ileocecal valve. uterus fundus James Malone The fundus of the uterus is the top portion, opposite from the cervix. Fundal height, measured from the top of the pubic bone, is routinely measured in pregnancy to determine growth rates. C-peptide measurement Dani Welter true CCL11 measurement Dani Welter true respiratory quotient Dani Welter true urinary nitrogen measurement Dani Welter true waist height ratio Dani Welter true red blood cell distribution width Dani Welter RDW measure of the variation of red blood cell (RBC) volume true serum IgG glycosylation measurement Dani Welter quantification of N-linked IgG glycans in a serum sample true amyloid-beta measurement Ab measurement Dani Welter cortical Ab measurement quantification of the amyloid-beta, either in a sample of cerebro-spinal fluid or via PET scan, used as a biomarker for Alzheimer's disease true response to cholinesterase inhibitor Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cholinesterase inhbitor stimulus. Dani Welter true vasoactive peptide measurement Dani Welter quantification of some peptide with a vasodilating or vasoconstricting effect in a blood sample, usually as an indicator of cardiovascular disease true beta-2 microglobulin measurement Dani Welter quantification of the MHC component beta-2 microglobulin, typically in a blood sample true transplant outcome measurement Dani Welter renal transplant outcome measurement Dani Welter quantification of the outcome of a kidney transplant true antiphospholipid antibody measurement Dani Welter Quantification of antiphospholipid antibodies in a biological sample, usually a blood sample. Antiphospholipid antibodies include anticardiolipin antibodies (ACL), lupus anticoagulant (LAC), and anti- β 2 glycoprotein I antibodies (anti- β 2GPI).They can be an indicator of antiphospholipid syndrome true height growth measurement Dani Welter growth is measured as the difference in body height between two time points true response to hydrochlorothiazide Dani Welter response to HCTZ response to thiazide true eating disorder A group of disorders characterized by physiological and psychological disturbances in appetite or food intake. Dani Welter MSH:D001068 true bulimia nervosa An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING. Dani Welter MSH:D052018 bulimia true response to dabigatran etexilate Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with dabigatran etexilate, an anticoagulant from the class of direct thrombin inhibitors. Dabigatran is used to prevent strokes in patients with atrial fibrillations due to causes other than heart valve disease, and at least one additional risk factor for stroke,and to prevent the formation of blood clots in the veins in adults who have had an operation to replace a hip or knee. Dani Welter true oligoclonal band measurement Dani Welter detection or quantification of bands of immunoglobulins in blood serum or cerebrospinal fluid, usually as an indicator of central nervous system disorders such as multiple sclerosis, Lyme disease, systemic lupus erythematosus or neurosarcoidosis true congenital heart disease CHD Dani Welter any form of heart disease that is present at birth, including defects to the structure and function of the heart and great vessels true glomerular filtration rate Dani Welter GFR measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test true brain connectivity measurement Dani Welter quantification of the pattern of links between distinct units within a nervous system through neuroimaging techniques such a MRI true aspirin hydrolysis measurement Dani Welter quantification of the rate of hydrolysis of aspirin in blood as an indicator of the therapeutic effectiveness of aspirin true atmosphere unit The standard atmosphere is an international reference pressure defined as 101325 Pa and formerly used as a unit of pressure. central corneal thickness true A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma. Helen Parkinson neuroblastoma cell line A cell line which is a model for neuroblastoma. breast adenocarcinoma cell line A cell line which is a model for breast adenocarcinoma. hepatoma cell line A cell line used as model for hepatocellular carcinoma. cervical adenocarcinoma cell line A cell line used as a model for cervical adenocarcinoma. cervical carcinoma cell line A cell line which is used as a model for cervical carcinoma. TraDIS sequencing http://www.sanger.ac.uk/about/press/2009/091016.html Tra-DIS or Transposon Directed Insertion Site Sequencing is a sequencing technology developed at the Sanger Institute. The technique involves insertingtransposons into the genome to generate large numbers of mutants. pulmonary neuroendocrine tumor cholangiocarcinoma avian influenza acute stress reaction mixed disorder as reaction to stress Q fever human african trypanosomiasis sleeping sickness swine influenza GRO-seq Genomic run-on sequencing Amy Tang GRO-seq or Genomic run-on sequencing or sometimes Global run-on sequencing is a sequencing assay based on traditional nuclear run-on assays, but instead of looking at a few loci at a time, this is a high-throughput method that allows for the calculation of transcription rates of all genes across the genome. Please note that the starting materials for sequencing are RNAs, not genomic DNA because nascent transcripts are studied. Global run-on sequencing plant population James Malone A plant population is a grouping of plants consisting of individuals which share a particular characteristic such as inhabiting a particular region or area or ability to interbreed. reading Dani Welter reading is the complex cognitive process of decoding symbols in order to construct or derive meaning true word reading anxiety Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus. Dani Welter NCI:C26696 true ECC-1 ECC-1 cell BTO_0005365 An established epithelial cell line derived from an adenocarcinoma of human endometrial lining. endometrium adenocarcinoma CH12.LX The CH12.LX B cell line derived from the murine CH12 B cell lymphoma. BTO_0002493 CH12.LX cell PFSK-1 PFSK-1 cell [PMID: 1316433] [CLO:0008425] Neuroectodermal cell line derived from a cerebral brain tumor. primitive neuroectodermal tumor Primitive neuroectodermal tumours (PNET) are cancerous tumours that usually develop in the brain or spinal cord in children or young adults. malignant primitive neuroectodermal tumor NT2/D1 NT2/D1 cell NTERA-2 cl.D1 cell The NTERA-2 cl.D1 cell line is a pluripotent human testicular embryonal carcinoma cell line derived by cloning the NTERA-2 cell line. Derived from metastatic site: lung [BTO:0000946] U-87 MG A human epithelial cell derived from subject with grade IV glioblastoma; astrocytoma. U87-MG cell U-87-MG cell U-87MG cell U-87 cell U87 cell U-87 MG cell U87MG cell breed Afghan Hound A breed is a specific group of domestic animals or plants having homogeneous appearance, homogeneous behavior, and other characteristics that distinguish it from other animals or plants of the same species and that were arrived at through selective breeding. animal breed aortic valve calcification Dani Welter calcification of the aortic valve true rhegmatogenous retinal detachment A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. Dani Welter true employment status Dani Welter quantification of an individual's occupation, both in terms of employment vs unemployment and in terms of nature of employment, eg self-employment true methamphetamine-induced psychosis Dani Welter abnormal mental state resulting from an abuse of methamphetamine true myeloperoxidase measurement Dani Welter quantification of the enzyme myeloperoxidase in the blood, for example as an indicator of coronary artery disease true gastric bypass Dani Welter any of a group of similar operations that first divides the stomach into a small upper pouch and a much larger lower "remnant" pouch and then re-arranges the small intestine to connect to bot true body weight loss Dani Welter the process of decreasing the mass of an organsim over time true hypersomnia Dani Welter a large group of disorders characterized by excessive daytime sleepiness true anti-Heliobacter pylori serum IgG measurement Dani Welter measurement of the IgG antibody isotype produced by plasma cells in response to a Heliobacter pylori infection true occupation-related stress disorder SNOMEDCT:10586006 true hypotension Blood pressure that is abnormally low. NCIt:C3128 low blood pressure orthostatic hypotension NCIt:C84970 Sudden fall of the blood pressure of at least 20/10 mm Hg when a person stands up. postural hypotension postprandial hypotension Dani Welter drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines neurally mediated hypotension Dani Welter Neurally mediated hypotension is a sudden drop in blood pressure while an individual stands up. It occurs when there is an abnormal reflex interaction between the heart and the brain, both of which usually are structurally normal response to anthracycline-based chemotherapy Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an anthracycline-based chemotherapy stimulus. true response to antimicrotubule agent Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antimicrotubule agent stimulus. true mitral annular calcification Dani Welter MAC degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease true TOV-112D http://www.lgcstandards-atcc.org/products/all/CRL-11731.aspx?geo_country=gb#characteristics TOV-112D is a human epithelial cell line initiated in October of 1992 from a patient with early onset ovarian cancer. The patient was of French-Canadian descent with an unknown family history of ovarian cancer. TOV112D Ect1 The ectocervical Ect1/E6E7 (ATCC CRL-2614) and endocervical End1/E6E7 (ATCC CRL-2615) cell lines were established in 1996 from normal epithelial tissue taken from a premenopausal woman undergoing hysterectomy for endometriosis. http://www.lgcstandards-atcc.org/products/all/CRL-2614.aspx?geo_country=gb#characteristics MOLT-3 MOLT-3 is a male human malignant T-lymphoblastic cell line. MOLT3 serum selenium measurement Dani Welter quantification of selenium in blood true serum copper measurement Dani Welter quantification of copper in blood true serum zinc measurement Dani Welter quantification of zinc in blood true congenital heart malformation Dani Welter any structural anomly of the heart that is present from birth true sleep duration Dani Welter duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab true sleep quality Dani Welter self-reported quality of sleeping true sleep depth Dani Welter self-reported assessment of how difficult an individual is to wake true sleep time Dani Welter measurement of the time at which sleep begins true dihydroxy docosatrienoic acid measurement Dani Welter the quantification of dihydroxy docosatrienoic acid, a metabolite significantly associated with increased risk of heart failure true hydroxy-leucine measurement Dani Welter X-11787 measurement the quantification of hydroxy-leucine, a metabolite significantly associated with increased risk of heart failure true cardiovascular disease biomarker measurement Dani Welter cardiovascular disease biomarkers, such as ST2 cardiac biomarker and C-reactive protein, are used as indicators for cardiovascular disease and as predictors for therapeutic responses true temporomandibular joint disorder A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. true sleep latency Dani Welter amount of time, usually recorded in minutes, between going to bed and falling asleep true HS-5 HS-5 cell Established from human bone marrow stromal cells transformed by HPV-16 E6/E7. HS-27A HS-27A cell Established from human bone marrow stromal cells transformed by HPV-16 E6/E7. L-1210 Mouse lymphocytic leukemia established from the methylcholanthrene-induced tumor in a DBA strain mouse (subline 212, 8-month-old female) in 1949; the cells were propagated by heterotransplantation into DBA/2 mice; an in-vitro suspension culture was first reported in 1966; cells are used for cytotoxicity studies.[BTO:0000702] L-1210 cell L1210 L1210 cell A20 A-20 Murine B-lymphoma cell line. PMID: 14738152 [BTO:0001930] A20 cell BALB/cAnN Albino inbred mus musculus strain. reticulum cell sarcoma A malignant tumor in the reticulum connective tissue. non-small cell lung adenocarcinoma Type of epithelial lung cancer arising from glandular origin. mural granulosa cell Drashtti Vasant The mural granulosa cells form during antral folliculogenesis, process in which a single antral cavity is formed, separating two functionally distinct granulosa cell populations. The mural granulosa cells line the wall of the follicle and are critical for steroidogenesis and ovulation. Brown Norway Drashtti Vasant RGD:60985 Dark agouti RGD:1357345 Drashtti Vasant lymphoblastoid cell line B-lymphoblast B cell lymphoblast chronic myelogenous leukemia cell line obsolete class An obsolete class is any class which is no longer required in the ontology but is maintained within the ontology file so that an audit trail exists for legacy reasons. Obsolete class and its children is disjoint with the main body of the ontology. http://www.ebi.ac.uk/efo/EFO_0000745 true disposition A disposition is an entity that essentially causes a specific process or transformation in an entity in which it inheres, under specific circumstances and in conjunction with the laws of nature. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease. A realizable entity [snap:RealizableEntity] that essentially causes a specific process or transformation in the object [snap:Object] in which it inheres, under specific circumstances and in conjunction with the laws of nature. A general formula for dispositions is: X (object [snap:Object] has the disposition D to (transform, initiate a process) R under conditions C. For example, the disposition of vegetables to decay when not refrigerated, the disposition of blood to coagulate, the disposition of a patient with a weakened immune system to contract disease. James Malone disease property http://www.ebi.ac.uk/efo/EFO_0001438 true function A function is an entity which is an essentially end-directed activity of a material entity in virtue of that entity being a specific kind of entity in the kind or kinds of contexts that it is made for. For example, A realizable entity [snap:RealizableEntity] the manifestation of which is an essentially end-directed activity of a continuant [snap:Continuant] entity in virtue of that continuant [snap:Continuant] entity being a specific kind of entity in the kind or kinds of contexts that it is made for. BFO:function James Malone http://www.ebi.ac.uk/efo/EFO_0001441 true material entity A heart, a human, a fly, a microarray. A material entity is an entity that exists in full during the length of time of its existence, persists through this time while maintaining its identity and has no temporal parts. For example a heart, a human, a fly, a microarray. An independent continuant [snap:IndependentContinuant] that is spatially extended whose identity is independent of that of other entities and can be maintained through time. Note: Material entity [snap:MaterialEntity] subsumes object [snap:Object], fiat object part [snap:FiatObjectPart], and object aggregate [snap:ObjectAggregate], which assume a three level theory of granularity, which is inadequate for some domains, such as biology. James Malone http://www.ebi.ac.uk/efo/EFO_0001434 sample factor true material type quality A quality is an entity that describes some aspect which is intrinsic to that particular object and is dependent on or more material entities in which it inheres in or is borne by. Example the color of a tomato, the ambient temperature of air, the circumference of a waist, the shape of a nose, the mass of a piece of gold, the weight of a chimpanzee A specifically dependent continuant [snap:SpecificallyDependentContinuant] that is exhibited if it inheres in an entity or entities at all (a categorical property). James Malone http://www.ebi.ac.uk/efo/EFO_0001436 true role A realizable entity [snap:RealizableEntity] the manifestation of which brings about some result or end that is not essential to a continuant [snap:Continuant] in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant [snap:Continuant] in some kinds of natural, social or institutional contexts. A role is an entity which is borne in a material entity in some kinds of natural, social or institutional contexts, but which is not essential to the fundamental definition of that material entity (i.e. the material entity exists with or without the role). For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease. For example, the role of a person as a surgeon, the role of an artificial heart in pumping blood, the role of a chemical compound in an experiment, the role of a drug in the treatment of a disease. James Malone http://www.ebi.ac.uk/efo/EFO_0001440 true site A site is an entity which consists of a characteristic spatial shape in relation to some arrangement of other material entities. An independent continuant [snap:IndependentContinuant] consisting of a characteristic spatial shape in relation to some arrangement of other continuant [snap:Continuant] entities and of the medium which is enclosed in whole or in part by this characteristic spatial shape. Site [snap:Site] entities are entities that can be occupied by other continuant [snap:Continuant] entities. James Malone http://www.ebi.ac.uk/efo/EFO_0001437 true material property A continuant [snap:Continuant] that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same. An experimental factor which is a property or characteristic of some other entity. For example, the mouse has the colour white. James Malone SpecificallyDependentContinuant http://www.ebi.ac.uk/efo/EFO_0001443 sample characteristic true process A process is an entity that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity during the time it occurs. An occurrent [span:Occurrent] that exists in time by occurring or happening, has temporal parts and always involves and depends on some entity. James Malone http://www.ebi.ac.uk/efo/EFO_0001433 true Congenital bilateral absence of vas deferens Congenital bilateral aplasia of vas deferens Gene [OrphaNum:119382 ; Name:Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) ; Symbol:CFTR ; xref: ENSEMBL:ENSG00000001626 ; xref: REACTOME:P13569 ; xref: GENATLAS:CFTR ; xref: HGNC:1884 ; xref: OMIM:602421 ; xref: UNIPROTKB/SWISSPROT:P13569] OMIM:277180 ICD10:Q55.4 prevalence- 1-5 / 10 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 1000 Congenital bilateral aplasia of vas deferens Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 EXACT Congenital bilateral aplasia of vas deferens CADASIL syndrome Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Hereditary multi-infarct dementia Gene [OrphaNum:123860 ; Name:Notch homolog 3 (Drosophila) ; Symbol:NOTCH3 ; xref: GENATLAS:NOTCH3 ; xref: HGNC:7883 ; xref: OMIM:600276 ; xref: UNIPROTKB/SWISSPROT:Q9UM47 ; xref: ENSEMBL:ENSG00000074181 ; xref: REACTOME:Q9UM47] Orphanet ID- 1001 ICD10:F01.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy OMIM:125310 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 ICD10:I67.8 Hereditary multi-infarct dementia EXACT Hereditary multi-infarct dementia EXACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Axenfeld-Rieger anomaly - hydrocephaly - skeletal abnormalities Orphanet ID- 1003 OMIM:109120 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1220 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Berardinelli-Seip congenital lipodystrophy BSCL Beradinelli-Seip syndrome Brunzell syndrome GCL Generalized congenital lipodystrophy Lipoatrophic diabetes prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Generalized congenital lipodystrophy Gene [OrphaNum:171064 ; Name:Caveolin 1, caveolae protein, 22kDa ; Symbol:CAV1 ; xref: GENATLAS:CAV1 ; xref: HGNC:1527 ; xref: OMIM:601047 ; xref: UNIPROTKB/SWISSPROT:Q03135 ; xref: ENSEMBL:ENSG00000105974 ; xref: REACTOME:Q03135] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 Gene [OrphaNum:119085 ; Name:Bernardinelli-Seip congenital lipodystrophy 2 (seipin) ; Symbol:BSCL2 ; xref: GENATLAS:BSCL2 ; xref: HGNC:15832 ; xref: OMIM:606158 ; xref: UNIPROTKB/SWISSPROT:Q96G97 ; xref: ENSEMBL:ENSG00000168000] Beradinelli-Seip syndrome Lipoatrophic diabetes OMIM:269700 Gene [OrphaNum:119525 ; Name:1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) ; Symbol:AGPAT2 ; xref: ENSEMBL:ENSG00000169692 ; xref: REACTOME:O15120 ; xref: GENATLAS:AGPAT2 ; xref: HGNC:325 ; xref: OMIM:603100 ; xref: UNIPROTKB/SWISSPROT:O15120] OMIM:612526 BSCL Brunzell syndrome OMIM:608594 Orphanet ID- 1007 ICD10:E88.1 GCL EXACT Brunzell syndrome EXACT Beradinelli-Seip syndrome EXACT Lipoatrophic diabetes EXACT Generalized congenital lipodystrophy EXACT GCL EXACT BSCL Bazex-Dupre-Christol syndrome BDCS Follicular atrophoderma and basal cell carcinomas OMIM:301845 Follicular atrophoderma and basal cell carcinomas BDCS prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Orphanet ID- 1009 ICD10:L98.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 EXACT Follicular atrophoderma and basal cell carcinomas EXACT BDCS Juvenile absence epilepsy JAE prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 OMIM:607631 ICD10:G40.3 Orphanet ID- 101 JAE EXACT JAE Familial abdominal aortic aneurysm ICD10:I71.4 Gene [OrphaNum:120713 ; Name:Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ; Symbol:COL3A1 ; xref: GENATLAS:COL3A1 ; xref: HGNC:2201 ; xref: OMIM:120180 ; xref: UNIPROTKB/SWISSPROT:P02461 ; xref: ENSEMBL:ENSG00000168542 ; xref: REACTOME:P02461] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86 OMIM:611891 OMIM:100070 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:609782 Orphanet ID- 1010 OMIM:614375 46,XX gonadal dysgenesis 46,XX complete gonadal dysgenesis 46,XX ovarian dysgenesis 46,XX pure gonadal dysgenesis FSH-RO Follicular stimulating hormone-resistant ovaries Hypergonadotropic ovarian dysgenesis XX female gonadal dysgenesis XX-GD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 Orphanet ID- 1011 FSH-RO 46,XX complete gonadal dysgenesis Follicular stimulating hormone-resistant ovaries 46,XX ovarian dysgenesis prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive; OMIM:300510 Gene [OrphaNum:285341 ; Name:PSMC3 Interacting Protein ; Symbol:PSMC3IP ; xref: ENSEMBL:ENSG00000131470 ; xref: OMIM:608665 ; xref: UNIPROTKB/SWISSPROT:Q9P2W1 ; xref: GENATLAS:PSMC3IP ; xref: HGNC:17928 ; xref: REACTOME:Q9P2W1] XX-GD OMIM:233300 OMIM:614324 Gene [OrphaNum:158386 ; Name:Bone morphogenetic protein 15 ; Symbol:BMP15 ; xref: GENATLAS:BMP15 ; xref: HGNC:1068 ; xref: OMIM:300247 ; xref: UNIPROTKB/SWISSPROT:O95972 ; xref: ENSEMBL:ENSG00000130385] Gene [OrphaNum:168312 ; Name:Nuclear receptor subfamily 5, group A, member 1 ; Symbol:NR5A1 ; xref: GENATLAS:NR5A1 ; xref: HGNC:7983 ; xref: OMIM:184757 ; xref: UNIPROTKB/SWISSPROT:Q13285 ; xref: IUPHAR:632 ; xref: REACTOME:Q13285 ; xref: ENSEMBL:ENSG00000136931] 46,XX pure gonadal dysgenesis Gene [OrphaNum:121943 ; Name:Follicle stimulating hormone receptor ; Symbol:FSHR ; xref: GENATLAS:FSHR ; xref: HGNC:3969 ; xref: OMIM:136435 ; xref: UNIPROTKB/SWISSPROT:P23945 ; xref: IUPHAR:253 ; xref: REACTOME:P23945 ; xref: ENSEMBL:ENSG00000170820] ICD10:Q99.1 Hypergonadotropic ovarian dysgenesis XX female gonadal dysgenesis EXACT XX-GD EXACT 46,XX pure gonadal dysgenesis EXACT XX female gonadal dysgenesis EXACT 46,XX complete gonadal dysgenesis EXACT Hypergonadotropic ovarian dysgenesis EXACT 46,XX ovarian dysgenesis EXACT Follicular stimulating hormone-resistant ovaries EXACT FSH-RO ICF syndrome Immunodeficiency - centromeric instability - facial anomalies OMIM:242860 Orphanet ID- 1018 OMIM:614069 Immunodeficiency - centromeric instability - facial anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 Gene [OrphaNum:268103 ; Name:zinc finger and BTB domain containing 24 ; Symbol:ZBTB24 ; xref: ENSEMBL:ENSG00000112365 ; xref: HGNC:21143 ; xref: OMIM:614064 ; xref: GENATLAS:ZBTB24 ; xref: UNIPROTKB/SWISSPROT:O43167] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D84.8 Gene [OrphaNum:121150 ; Name:DNA (cytosine-5-)-methyltransferase 3 beta ; Symbol:DNMT3B ; xref: UNIPROTKB/SWISSPROT:Q9UBC3 ; xref: GENATLAS:DNMT3B ; xref: HGNC:2979 ; xref: OMIM:602900 ; xref: ENSEMBL:ENSG00000088305] EXACT Immunodeficiency - centromeric instability - facial anomalies Juvenile myoclonic epilepsy Gene [OrphaNum:168319 ; Name:Jerky homolog (mouse) ; Symbol:JRK ; xref: ENSEMBL:ENSG00000234616 ; xref: GENATLAS:JRK ; xref: HGNC:6199 ; xref: OMIM:603210 ; xref: UNIPROTKB/SWISSPROT:O75564] OMIM:607682 OMIM:607628 Orphanet ID- 102 OMIM:611136 OMIM:254770 OMIM:611364 OMIM:604827 Gene [OrphaNum:121991 ; Name:Gamma-aminobutyric acid (GABA) A receptor, delta ; Symbol:GABRD ; xref: GENATLAS:GABRD ; xref: HGNC:4084 ; xref: OMIM:137163 ; xref: UNIPROTKB/SWISSPROT:O14764 ; xref: IUPHAR:416 ; xref: ENSEMBL:ENSG00000187730] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 OMIM:608816 Gene [OrphaNum:121303 ; Name:EF-hand domain (C-terminal) containing 1 ; Symbol:EFHC1 ; xref: GENATLAS:EFHC1 ; xref: HGNC:16406 ; xref: OMIM:608815 ; xref: UNIPROTKB/SWISSPROT:Q5JVL4 ; xref: ENSEMBL:ENSG00000096093] Gene [OrphaNum:121989 ; Name:Gamma-aminobutyric acid (GABA) A receptor, alpha 1 ; Symbol:GABRA1 ; xref: GENATLAS:GABRA1 ; xref: HGNC:4075 ; xref: OMIM:137160 ; xref: UNIPROTKB/SWISSPROT:P14867 ; xref: IUPHAR:404 ; xref: ENSEMBL:ENSG00000022355 ; xref: REACTOME:P14867] ICD10:G40.3 OMIM:614280 Gene [OrphaNum:119168 ; Name:Calcium channel, voltage-dependent, beta 4 subunit ; Symbol:CACNB4 ; xref: ENSEMBL:ENSG00000182389 ; xref: REACTOME:O00305 ; xref: GENATLAS:CACNB4 ; xref: HGNC:1404 ; xref: OMIM:601949 ; xref: UNIPROTKB/SWISSPROT:O00305] prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:226047 ; Name:Chloride channel 2 ; Symbol:CLCN2 ; xref: GENATLAS:CLCN2 ; xref: HGNC:2020 ; xref: OMIM:600570 ; xref: UNIPROTKB/SWISSPROT:P51788 ; xref: ENSEMBL:ENSG00000114859] Gene [OrphaNum:122817 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 3 ; Symbol:KCNQ3 ; xref: GENATLAS:KCNQ3 ; xref: HGNC:6297 ; xref: OMIM:602232 ; xref: UNIPROTKB/SWISSPROT:O43525 ; xref: IUPHAR:562 ; xref: ENSEMBL:ENSG00000184156 ; xref: REACTOME:O43525] OMIM:613060 Joubert syndrome CPD IV Cerebelloparenchymal disorder IV Classic Joubert syndrome Joubert syndrome type A Joubert-Boltshauser syndrome Pure Joubert syndrome Gene [OrphaNum:268061 ; Name:kinesin family member 7 ; Symbol:KIF7 ; xref: HGNC:30497 ; xref: OMIM:611254 ; xref: GENATLAS:KIF7 ; xref: UNIPROTKB/SWISSPROT:Q2M1P5 ; xref: ENSEMBL:ENSG00000166813] Cerebelloparenchymal disorder IV Gene [OrphaNum:292992 ; Name:Centrosomal protein 41kDa ; Symbol:CEP41 ; xref: HGNC:12370 ; xref: OMIM:610523 ; xref: GENATLAS:CEP41 ; xref: UNIPROTKB/SWISSPROT:Q9BYV8] Orphanet ID- 1022 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 OMIM:612291 OMIM:610688 Classic Joubert syndrome ICD10:Q04.3 OMIM:213300 CPD IV Gene [OrphaNum:120140 ; Name:Transmembrane protein 67 ; Symbol:TMEM67 ; xref: GENATLAS:TMEM67 ; xref: HGNC:28396 ; xref: OMIM:609884 ; xref: UNIPROTKB/SWISSPROT:Q5HYA8 ; xref: ENSEMBL:ENSG00000164953] OMIM:614615 Pure Joubert syndrome Joubert-Boltshauser syndrome OMIM:614173 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:286631 ; Name:Transmembrane protein 237 ; Symbol:TMEM237 ; xref: GENATLAS:TMEM237 ; xref: UNIPROTKB/SWISSPROT:Q96Q45 ; xref: HGNC:14432 ; xref: OMIM:614423 ; xref: ENSEMBL:ENSG00000155755] Gene [OrphaNum:274226 ; Name:tectonic family member 1 ; Symbol:TCTN1 ; xref: ENSEMBL:ENSG00000204852 ; xref: HGNC:26113 ; xref: OMIM:609863 ; xref: UNIPROTKB/SWISSPROT:Q2MV58] OMIM:614424 Gene [OrphaNum:179401 ; Name:ADP-ribosylation factor-like 13B ; Symbol:ARL13B ; xref: UNIPROTKB/SWISSPROT:Q3SXY8 ; xref: GENATLAS:ARL13B ; xref: HGNC:25419 ; xref: OMIM:608922 ; xref: ENSEMBL:ENSG00000169379] Joubert syndrome type A OMIM:614464 Gene [OrphaNum:208347 ; Name:Inositol polyphosphate-5-phosphatase, 72 kDa ; Symbol:INPP5E ; xref: ENSEMBL:ENSG00000148384 ; xref: GENATLAS:INPP5E ; xref: HGNC:21474 ; xref: UNIPROTKB/SWISSPROT:Q9NRR6 ; xref: OMIM:613037] Gene [OrphaNum:299619 ; Name:Chromosome 5 open reading frame 42 ; Symbol:C5ORF42 ; xref: HGNC:25801 ; xref: OMIM:614571 ; xref: GENATLAS:C5orf42 ; xref: UNIPROTKB/SWISSPROT:Q9H799] EXACT CPD IV EXACT Joubert-Boltshauser syndrome EXACT Joubert syndrome type A EXACT Cerebelloparenchymal disorder IV EXACT Classic Joubert syndrome EXACT Pure Joubert syndrome Holt-Oram syndrome Atriodigital dysplasia type 1 Heart-hand syndrome type 1 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:119968 ; Name:T-box 5 ; Symbol:TBX5 ; xref: GENATLAS:TBX5 ; xref: HGNC:11604 ; xref: OMIM:601620 ; xref: UNIPROTKB/SWISSPROT:Q99593 ; xref: REACTOME:Q99593 ; xref: ENSEMBL:ENSG00000089225] ICD10:Q87.2 Atriodigital dysplasia type 1 OMIM:142900 Orphanet ID- 1023 Heart-hand syndrome type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 EXACT Heart-hand syndrome type 1 EXACT Atriodigital dysplasia type 1 Congenital isolated hyperinsulinism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 Orphanet ID- 1025 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Meningioma true Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2495 ICD10:D32.9 Orphanet ID- 1030 OMIM:606190 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; TRAPS syndrome Autosomal dominant periodic fever Familial hibernian fever TNF receptor 1 associated periodic syndrome Tumor necrosis factor receptor 1 associated periodic syndrome TNF receptor 1 associated periodic syndrome Familial hibernian fever Gene [OrphaNum:120173 ; Name:Tumor necrosis factor receptor superfamily, member 1A ; Symbol:TNFRSF1A ; xref: GENATLAS:TNFRSF1A ; xref: HGNC:11916 ; xref: OMIM:191190 ; xref: UNIPROTKB/SWISSPROT:P19438 ; xref: REACTOME:P19438 ; xref: ENSEMBL:ENSG00000067182] Tumor necrosis factor receptor 1 associated periodic syndrome ICD10:R50 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 Autosomal dominant periodic fever prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10303 OMIM:142680 EXACT Tumor necrosis factor receptor 1 associated periodic syndrome EXACT TNF receptor 1 associated periodic syndrome EXACT Familial hibernian fever EXACT Autosomal dominant periodic fever Lymphedema - distichiasis prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q10.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 ICD10:Q82.0 Gene [OrphaNum:121891 ; Name:Forkhead box C2 (MFH-1, mesenchyme forkhead 1) ; Symbol:FOXC2 ; xref: GENATLAS:FOXC2 ; xref: HGNC:3801 ; xref: OMIM:602402 ; xref: UNIPROTKB/SWISSPROT:Q99958 ; xref: ENSEMBL:ENSG00000176692] Orphanet ID- 10305 OMIM:153400 Metaphyseal chondrodysplasia, Jansen type Orphanet ID- 10306 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 ICD10:Q78.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:118140 ; Name:Parathyroid hormone 1 receptor ; Symbol:PTH1R ; xref: OMIM:168468 ; xref: UNIPROTKB/SWISSPROT:Q03431 ; xref: HGNC:9608 ; xref: GENATLAS:PTH1R ; xref: ENSEMBL:ENSG00000160801 ; xref: IUPHAR:331 ; xref: REACTOME:Q03431] OMIM:156400 Dravet syndrome SMEI Severe myoclonic epilepsy of infancy ICD10:G40.4 Gene [OrphaNum:118489 ; Name:Sodium channel, voltage-gated, type I, alpha subunit ; Symbol:SCN1A ; xref: GENATLAS:SCN1A ; xref: HGNC:10585 ; xref: OMIM:182389 ; xref: UNIPROTKB/SWISSPROT:P35498 ; xref: IUPHAR:578 ; xref: ENSEMBL:ENSG00000144285 ; xref: REACTOME:P35498] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Unknown; Orphanet ID- 10307 OMIM:607208 SMEI Gene [OrphaNum:118525 ; Name:Sodium channel, voltage-gated, type IX, alpha subunit ; Symbol:SCN9A ; xref: GENATLAS:SCN9A ; xref: HGNC:10597 ; xref: OMIM:603415 ; xref: UNIPROTKB/SWISSPROT:Q15858 ; xref: ENSEMBL:ENSG00000169432 ; xref: IUPHAR:584 ; xref: REACTOME:Q15858] Gene [OrphaNum:118498 ; Name:Sodium channel, voltage-gated, type I, beta ; Symbol:SCN1B ; xref: GENATLAS:SCN1B ; xref: HGNC:10586 ; xref: OMIM:600235 ; xref: UNIPROTKB/SWISSPROT:Q07699 ; xref: ENSEMBL:ENSG00000105711 ; xref: REACTOME:Q07699] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 Gene [OrphaNum:121993 ; Name:Gamma-aminobutyric acid (GABA) A receptor, gamma 2 ; Symbol:GABRG2 ; xref: GENATLAS:GABRG2 ; xref: HGNC:4087 ; xref: OMIM:137164 ; xref: UNIPROTKB/SWISSPROT:P18507 ; xref: REACTOME:P18507 ; xref: IUPHAR:414 ; xref: ENSEMBL:ENSG00000113327] Severe myoclonic epilepsy of infancy EXACT Severe myoclonic epilepsy of infancy EXACT SMEI Lethal multiple pterygium syndrome Orphanet ID- 10308 Gene [OrphaNum:119428 ; Name:Cholinergic receptor, nicotinic, gamma ; Symbol:CHRNG ; xref: GENATLAS:CHRNG ; xref: HGNC:1967 ; xref: OMIM:100730 ; xref: UNIPROTKB/SWISSPROT:P07510 ; xref: REACTOME:P07510 ; xref: IUPHAR:475 ; xref: ENSEMBL:ENSG00000196811] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 Gene [OrphaNum:118222 ; Name:Receptor-associated protein of the synapse ; Symbol:RAPSN ; xref: GENATLAS:RAPSN ; xref: HGNC:9863 ; xref: OMIM:601592 ; xref: UNIPROTKB/SWISSPROT:Q13702 ; xref: ENSEMBL:ENSG00000165917] Gene [OrphaNum:119411 ; Name:Cholinergic receptor, nicotinic, alpha 1 (muscle) ; Symbol:CHRNA1 ; xref: GENATLAS:CHRNA1 ; xref: HGNC:1955 ; xref: OMIM:100690 ; xref: UNIPROTKB/SWISSPROT:P02708 ; xref: IUPHAR:462 ; xref: REACTOME:P02708 ; xref: ENSEMBL:ENSG00000138435] OMIM:253290 Gene [OrphaNum:119422 ; Name:Cholinergic receptor, nicotinic, delta ; Symbol:CHRND ; xref: GENATLAS:CHRND ; xref: HGNC:1965 ; xref: OMIM:100720 ; xref: UNIPROTKB/SWISSPROT:Q07001 ; xref: IUPHAR:476 ; xref: ENSEMBL:ENSG00000135902 ; xref: REACTOME:Q07001] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Familial or sporadic hemiplegic migraine OMIM:141500 Orphanet ID- 1031 Gene [OrphaNum:118489 ; Name:Sodium channel, voltage-gated, type I, alpha subunit ; Symbol:SCN1A ; xref: GENATLAS:SCN1A ; xref: HGNC:10585 ; xref: OMIM:182389 ; xref: UNIPROTKB/SWISSPROT:P35498 ; xref: IUPHAR:578 ; xref: ENSEMBL:ENSG00000144285 ; xref: REACTOME:P35498] prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:G43.1 Gene [OrphaNum:119129 ; Name:Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ; Symbol:CACNA1A ; xref: GENATLAS:CACNA1A ; xref: HGNC:1388 ; xref: OMIM:601011 ; xref: UNIPROTKB/SWISSPROT:O00555 ; xref: IUPHAR:532 ; xref: ENSEMBL:ENSG00000141837 ; xref: REACTOME:O00555] Gene [OrphaNum:121497 ; Name:ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide ; Symbol:ATP1A2 ; xref: GENATLAS:ATP1A2 ; xref: HGNC:800 ; xref: OMIM:182340 ; xref: UNIPROTKB/SWISSPROT:P50993 ; xref: REACTOME:P50993 ; xref: ENSEMBL:ENSG00000018625] OMIM:609634 OMIM:607516 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 OMIM:602481 Autosomal agammaglobulinemia Agammaglobulinemia, non-Bruton type Gene [OrphaNum:122591 ; Name:Immunoglobulin heavy constant mu ; Symbol:IGHM ; xref: GENATLAS:IGHM ; xref: HGNC:5541 ; xref: OMIM:147020 ; xref: UNIPROTKB/SWISSPROT:P01871 ; xref: REACTOME:P01871 ; xref: ENSEMBL:ENSG00000211899] OMIM:601495 Orphanet ID- 10310 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:612692 Gene [OrphaNum:123129 ; Name:Leucine rich repeat containing 8 family, member A ; Symbol:LRRC8A ; xref: GENATLAS:LRRC8A ; xref: HGNC:19027 ; xref: OMIM:608360 ; xref: UNIPROTKB/SWISSPROT:Q8IWT6 ; xref: ENSEMBL:ENSG00000136802] OMIM:613506 Gene [OrphaNum:122598 ; Name:Immunoglobulin lambda-like polypeptide 1 ; Symbol:IGLL1 ; xref: GENATLAS:IGLL1 ; xref: HGNC:5870 ; xref: OMIM:146770 ; xref: UNIPROTKB/SWISSPROT:P15814 ; xref: ENSEMBL:ENSG00000128322] Gene [OrphaNum:236971 ; Name:B-cell linker ; Symbol:BLNK ; xref: ENSEMBL:ENSG00000095585 ; xref: REACTOME:Q8WV28 ; xref: GENATLAS:BLNK ; xref: HGNC:14211 ; xref: UNIPROTKB/SWISSPROT:Q8WV28 ; xref: OMIM:604515] OMIM:613500 OMIM:613502 OMIM:613501 Gene [OrphaNum:236967 ; Name:CD79b molecule, immunoglobulin-associated beta ; Symbol:CD79B ; xref: ENSEMBL:ENSG00000007312 ; xref: REACTOME:P40259 ; xref: HGNC:1699 ; xref: GENATLAS:CD79B ; xref: UNIPROTKB/SWISSPROT:P40259 ; xref: OMIM:147245] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33110 Agammaglobulinemia, non-Bruton type Gene [OrphaNum:221180 ; Name:CD79a molecule, immunoglobulin-associated alpha ; Symbol:CD79A ; xref: ENSEMBL:ENSG00000105369 ; xref: REACTOME:P11912 ; xref: GENATLAS:CD79A ; xref: HGNC:1698 ; xref: OMIM:112205 ; xref: UNIPROTKB/SWISSPROT:P11912] EXACT Agammaglobulinemia, non-Bruton type Reticular dysgenesis Congenital aleukocytosis De Vaal disease Generalized hematopoietic hypoplasia Severe combined immunodeficiency with leukopenia OMIM:267500 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:173523 ; Name:Adenylate kinase 2 ; Symbol:AK2 ; xref: GENATLAS:AK2 ; xref: HGNC:362 ; xref: OMIM:103020 ; xref: UNIPROTKB/SWISSPROT:Q8TCY3 ; xref: REACTOME:Q8TCY3 ; xref: ENSEMBL:ENSG00000004455] Congenital aleukocytosis Severe combined immunodeficiency with leukopenia Generalized hematopoietic hypoplasia De Vaal disease Orphanet ID- 10318 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33355 EXACT De Vaal disease EXACT Congenital aleukocytosis EXACT Severe combined immunodeficiency with leukopenia EXACT Generalized hematopoietic hypoplasia Trichothiodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 Orphanet ID- 10319 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; ICD10:L67.8 LEOPARD syndrome Cardiomyopathic lentiginosis Familial multiple lentigines syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:118143 ; Name:Protein tyrosine phosphatase, non-receptor type 11 ; Symbol:PTPN11 ; xref: GENATLAS:PTPN11 ; xref: HGNC:9644 ; xref: OMIM:176876 ; xref: UNIPROTKB/SWISSPROT:Q06124 ; xref: ENSEMBL:ENSG00000179295 ; xref: REACTOME:Q06124] OMIM:611554 Gene [OrphaNum:119066 ; Name:V-raf murine sarcoma viral oncogene homolog B1 ; Symbol:BRAF ; xref: GENATLAS:BRAF ; xref: HGNC:1097 ; xref: OMIM:164757 ; xref: UNIPROTKB/SWISSPROT:P15056 ; xref: REACTOME:P15056 ; xref: ENSEMBL:ENSG00000157764] Orphanet ID- 1032 ICD10:Q87.8 Gene [OrphaNum:138722 ; Name:v-raf-1 murine leukemia viral oncogene homolog 1 ; Symbol:RAF1 ; xref: GENATLAS:RAF1 ; xref: HGNC:9829 ; xref: OMIM:164760 ; xref: UNIPROTKB/SWISSPROT:P04049 ; xref: ENSEMBL:ENSG00000132155 ; xref: REACTOME:P04049] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 OMIM:151100 Cardiomyopathic lentiginosis Familial multiple lentigines syndrome OMIM:613707 EXACT Familial multiple lentigines syndrome EXACT Cardiomyopathic lentiginosis Neuroectodermal melanolysosomal disease Elejalde disease Gene [OrphaNum:123645 ; Name:Myosin VA (heavy chain 12, myoxin) ; Symbol:MYO5A ; xref: GENATLAS:MYO5A ; xref: HGNC:7602 ; xref: OMIM:160777 ; xref: UNIPROTKB/SWISSPROT:Q9Y4I1 ; xref: ENSEMBL:ENSG00000197535 ; xref: REACTOME:Q9Y4I1] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; OMIM:256710 Elejalde disease Orphanet ID- 10323 EXACT Elejalde disease Familial Parkinson's disease dementia Idiopathic parkinsonism plus dementia OMIM:260540 ICD10:G20 Idiopathic parkinsonism plus dementia Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33540 ICD10:F02.3 Orphanet ID- 10325 OMIM:125320 prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; EXACT Idiopathic parkinsonism plus dementia 5-oxoprolinase deficiency Oxoprolinuria due to oxoprolinase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 OMIM:260005 Oxoprolinuria due to oxoprolinase deficiency Orphanet ID- 10327 ICD10:E72.8 Gene [OrphaNum:297456 ; Name:5-oxoprolinase (ATP-hydrolysing) ; Symbol:OPLAH ; xref: OMIM:614243 ; xref: GENATLAS:OPLAH ; xref: HGNC:8149] EXACT Oxoprolinuria due to oxoprolinase deficiency Gamma-glutamyl transpeptidase deficiency Glutathionuria ICD10:E72.8 Gene [OrphaNum:122086 ; Name:Gamma-glutamyltransferase 1 ; Symbol:GGT1 ; xref: GENATLAS:GGT1 ; xref: HGNC:4250 ; xref: OMIM:231950 ; xref: UNIPROTKB/SWISSPROT:P19440 ; xref: ENSEMBL:ENSG00000100031 ; xref: REACTOME:P19440] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 Glutathionuria OMIM:231950 Orphanet ID- 10328 EXACT Glutathionuria Gamma-glutamylcysteine synthetase deficiency Glutamate-cysteine ligase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:122057 ; Name:Glutamate-cysteine ligase, catalytic subunit ; Symbol:GCLC ; xref: GENATLAS:GCLC ; xref: HGNC:4311 ; xref: OMIM:606857 ; xref: UNIPROTKB/SWISSPROT:P48506 ; xref: REACTOME:P48506 ; xref: ENSEMBL:ENSG00000001084] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 Orphanet ID- 10329 ICD10:D55.1 OMIM:230450 Glutamate-cysteine ligase deficiency EXACT Glutamate-cysteine ligase deficiency Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Autosomal dominant nephronophthisis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149 OMIM:609886 ICD10:Q61.5 OMIM:174000 Gene [OrphaNum:120412 ; Name:Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) ; Symbol:UMOD ; xref: GENATLAS:UMOD ; xref: HGNC:12559 ; xref: OMIM:191845 ; xref: UNIPROTKB/SWISSPROT:P07911 ; xref: ENSEMBL:ENSG00000169344] Orphanet ID- 10332 Autosomal dominant nephronophthisis OMIM:603860 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Autosomal dominant nephronophthisis Naxos disease Keratosis palmoplantaris with arrythmogenic cardiomyopathy Gene [OrphaNum:122744 ; Name:Junction plakoglobin ; Symbol:JUP ; xref: GENATLAS:JUP ; xref: HGNC:6207 ; xref: OMIM:173325 ; xref: UNIPROTKB/SWISSPROT:P14923 ; xref: ENSEMBL:ENSG00000173801 ; xref: REACTOME:P14923] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 OMIM:601214 Orphanet ID- 10333 Keratosis palmoplantaris with arrythmogenic cardiomyopathy ICD10:Q87.8 EXACT Keratosis palmoplantaris with arrythmogenic cardiomyopathy Autosomal recessive limb-girdle muscular dystrophy type 2G LGMD2G Limb girdle muscular dystrophy due to telethonin deficiency OMIM:601954 Limb girdle muscular dystrophy due to telethonin deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; LGMD2G Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 ICD10:G71.0 Gene [OrphaNum:119971 ; Name:Titin-cap (telethonin) ; Symbol:TCAP ; xref: GENATLAS:TCAP ; xref: HGNC:11610 ; xref: OMIM:604488 ; xref: UNIPROTKB/SWISSPROT:O15273 ; xref: REACTOME:O15273 ; xref: ENSEMBL:ENSG00000173991] Orphanet ID- 10336 EXACT Limb girdle muscular dystrophy due to telethonin deficiency EXACT LGMD2G Autosomal recessive limb-girdle muscular dystrophy type 2I LGMD2I Limb girdle muscular dystrophy due to FKRP deficiency ICD10:G71.0 LGMD2I Limb girdle muscular dystrophy due to FKRP deficiency Gene [OrphaNum:121835 ; Name:Fukutin related protein ; Symbol:FKRP ; xref: GENATLAS:FKRP ; xref: HGNC:17997 ; xref: OMIM:606596 ; xref: UNIPROTKB/SWISSPROT:Q9H9S5 ; xref: ENSEMBL:ENSG00000181027] OMIM:607155 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 Orphanet ID- 10337 EXACT LGMD2I EXACT Limb girdle muscular dystrophy due to FKRP deficiency Autosomal dominant limb-girdle muscular dystrophy type 1D LGMD1D LGMD1D Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516 Gene [OrphaNum:296684 ; Name:DnaJ (Hsp40) homolog, subfamily B, member 6 ; Symbol:DNAJB6 ; xref: HGNC:14888 ; xref: OMIM:611332 ; xref: GENATLAS:DNAJB6 ; xref: UNIPROTKB/SWISSPROT:O75190] OMIM:603511 ICD10:G71.0 Orphanet ID- 10338 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; EXACT LGMD1D Autosomal dominant limb-girdle muscular dystrophy type 1E LGMD1E prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 10339 ICD10:G71.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34517 LGMD1E Gene [OrphaNum:121053 ; Name:Desmin ; Symbol:DES ; xref: GENATLAS:DES ; xref: HGNC:2770 ; xref: OMIM:125660 ; xref: UNIPROTKB/SWISSPROT:P17661 ; xref: REACTOME:P17661 ; xref: ENSEMBL:ENSG00000175084] EXACT LGMD1E Congenital muscular dystrophy with integrin deficiency Orphanet ID- 10342 ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 OMIM:613204 Gene [OrphaNum:166720 ; Name:Integrin, alpha 7 ; Symbol:ITGA7 ; xref: GENATLAS:ITGA7 ; xref: HGNC:6143 ; xref: OMIM:600536 ; xref: UNIPROTKB/SWISSPROT:Q13683 ; xref: ENSEMBL:ENSG00000135424 ; xref: REACTOME:Q13683] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Distal myopathy with early respiratory muscle involvement prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:G71.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34521 OMIM:607569 Orphanet ID- 10343 Familial primary hypomagnesemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34526 Orphanet ID- 10344 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypomagnesemia with normocalciuria HOMG4 Renal hypomagnesemia type 4 Gene [OrphaNum:201089 ; Name:Epidermal growth factor (beta-urogastrone) ; Symbol:EGF ; xref: ENSEMBL:ENSG00000138798 ; xref: HGNC:3229 ; xref: OMIM:131530 ; xref: UNIPROTKB/SWISSPROT:P01133 ; xref: GENATLAS:EGF ; xref: REACTOME:P01133] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34527 Orphanet ID- 10345 Gene [OrphaNum:120625 ; Name:Claudin 16 ; Symbol:CLDN16 ; xref: GENATLAS:CLDN16 ; xref: HGNC:2037 ; xref: OMIM:603959 ; xref: UNIPROTKB/SWISSPROT:Q9Y5I7 ; xref: ENSEMBL:ENSG00000113946 ; xref: REACTOME:Q9Y5I7] Renal hypomagnesemia type 4 OMIM:611718 ICD10:E83.4 HOMG4 EXACT HOMG4 EXACT Renal hypomagnesemia type 4 Isolated dominant hypomagnesemia HOMG2 Hypomagnesemia with hypocalciuria Renal hypomagnesemia type 2 Orphanet ID- 10346 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; HOMG2 ICD10:E83.4 Renal hypomagnesemia type 2 OMIM:154020 Hypomagnesemia with hypocalciuria Gene [OrphaNum:121972 ; Name:FXYD domain containing ion transport regulator 2 ; Symbol:FXYD2 ; xref: GENATLAS:FXYD2 ; xref: HGNC:4026 ; xref: OMIM:601814 ; xref: UNIPROTKB/SWISSPROT:P54710 ; xref: ENSEMBL:ENSG00000137731 ; xref: REACTOME:P54710] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 EXACT Hypomagnesemia with hypocalciuria EXACT HOMG2 EXACT Renal hypomagnesemia type 2 Corneal dystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10347 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34533 Glycogen storage disease due to LAMP-2 deficiency Danon disease GSD due to LAMP-2 deficiency Glycogenosis due to LAMP-2 deficiency Lysosomal glycogen storage disease with normal acid maltase activity prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive; OMIM:300257 Glycogenosis due to LAMP-2 deficiency GSD due to LAMP-2 deficiency Danon disease Orphanet ID- 10348 Lysosomal glycogen storage disease with normal acid maltase activity Gene [OrphaNum:122989 ; Name:Lysosomal-associated membrane protein 2 ; Symbol:LAMP2 ; xref: GENATLAS:LAMP2 ; xref: HGNC:6501 ; xref: OMIM:309060 ; xref: UNIPROTKB/SWISSPROT:P13473 ; xref: REACTOME:P13473 ; xref: ENSEMBL:ENSG00000005893] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 ICD10:E74.0 EXACT Glycogenosis due to LAMP-2 deficiency EXACT Danon disease EXACT GSD due to LAMP-2 deficiency EXACT Lysosomal glycogen storage disease with normal acid maltase activity Immunodeficiency by defective expression of HLA class 1 Bare lymphocyte syndrome type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34592 OMIM:604571 Gene [OrphaNum:123371 ; Name:TAP binding protein (tapasin) ; Symbol:TAPBP ; xref: GENATLAS:TAPBP ; xref: HGNC:11566 ; xref: OMIM:601962 ; xref: UNIPROTKB/SWISSPROT:O15533 ; xref: ENSEMBL:ENSG00000231925 ; xref: REACTOME:O15533] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10349 Gene [OrphaNum:123369 ; Name:Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) ; Symbol:TAP1 ; xref: GENATLAS:TAP1 ; xref: HGNC:43 ; xref: OMIM:170260 ; xref: UNIPROTKB/SWISSPROT:Q03518 ; xref: REACTOME:Q03518 ; xref: ENSEMBL:ENSG00000168394] Gene [OrphaNum:119922 ; Name:Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ; Symbol:TAP2 ; xref: GENATLAS:TAP2 ; xref: HGNC:44 ; xref: OMIM:170261 ; xref: UNIPROTKB/SWISSPROT:Q03519 ; xref: ENSEMBL:ENSG00000204267 ; xref: REACTOME:Q03519] Bare lymphocyte syndrome type 1 EXACT Bare lymphocyte syndrome type 1 Infantile neuroaxonal dystrophy INAD INAD1 PLA2G6-associated neurodegeneration PLAN Seitelberger disease OMIM:256600 INAD Seitelberger disease Gene [OrphaNum:117873 ; Name:Phospholipase A2, group VI (cytosolic, calcium-independent) ; Symbol:PLA2G6 ; xref: GENATLAS:PLA2G6 ; xref: HGNC:9039 ; xref: OMIM:603604 ; xref: UNIPROTKB/SWISSPROT:O60733 ; xref: ENSEMBL:ENSG00000184381] Orphanet ID- 10365 ICD10:G23.0 Gene [OrphaNum:178127 ; Name:Fatty acid 2-hydroxylase ; Symbol:FA2H ; xref: GENATLAS:FA2H ; xref: HGNC:21197 ; xref: OMIM:611026 ; xref: UNIPROTKB/SWISSPROT:Q7L5A8 ; xref: ENSEMBL:ENSG00000103089] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; INAD1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 PLAN OMIM:610217 PLA2G6-associated neurodegeneration EXACT Seitelberger disease EXACT PLA2G6-associated neurodegeneration EXACT PLAN EXACT INAD EXACT INAD1 Severe combined immunodeficiency T- B+ due to JAK3 deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122729 ; Name:Janus kinase 3 (a protein tyrosine kinase, leukocyte) ; Symbol:JAK3 ; xref: GENATLAS:JAK3 ; xref: HGNC:6193 ; xref: OMIM:600173 ; xref: UNIPROTKB/SWISSPROT:P52333 ; xref: ENSEMBL:ENSG00000105639 ; xref: REACTOME:P52333] Orphanet ID- 10366 ICD10:D81.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35078 OMIM:600802 Isolated scaphocephaly Isolated dolichocephaly Nonsyndromic sagittal synostosis nonsyndromic sagittal craniosynostosis true Orphanet ID- 10367 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:123100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 Nonsyndromic sagittal synostosis Isolated dolichocephaly ICD10:Q75.0 Gene [OrphaNum:120345 ; Name:Twist homolog 1 (Drosophila) ; Symbol:TWIST1 ; xref: ENSEMBL:ENSG00000122691 ; xref: GENATLAS:TWIST1 ; xref: HGNC:12428 ; xref: OMIM:601622 ; xref: UNIPROTKB/SWISSPROT:Q15672] EXACT Isolated dolichocephaly EXACT Nonsyndromic sagittal synostosis Isolated plagiocephaly Nonsyndromic unicoronal synostosis Synostotic plagiocephaly Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] Nonsyndromic unicoronal synostosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35098 Synostotic plagiocephaly ICD10:Q67.3 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:281555 ; Name:Ephrin-A4 ; Symbol:EFNA4 ; xref: ENSEMBL:ENSG00000243364 ; xref: UNIPROTKB/SWISSPROT:P52798 ; xref: HGNC:3224 ; xref: OMIM:601380 ; xref: GENATLAS:EFNA4] Orphanet ID- 10368 EXACT Nonsyndromic unicoronal synostosis EXACT Synostotic plagiocephaly Isolated brachycephaly Nonsyndromic bicoronal synostosis Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 ICD10:Q75.0 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 10369 Nonsyndromic bicoronal synostosis Gene [OrphaNum:120345 ; Name:Twist homolog 1 (Drosophila) ; Symbol:TWIST1 ; xref: ENSEMBL:ENSG00000122691 ; xref: GENATLAS:TWIST1 ; xref: HGNC:12428 ; xref: OMIM:601622 ; xref: UNIPROTKB/SWISSPROT:Q15672] EXACT Nonsyndromic bicoronal synostosis Desmosterolosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 Orphanet ID- 10370 OMIM:602398 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:121062 ; Name:24-dehydrocholesterol reductase ; Symbol:DHCR24 ; xref: GENATLAS:DHCR24 ; xref: HGNC:2859 ; xref: OMIM:606418 ; xref: UNIPROTKB/SWISSPROT:Q15392 ; xref: ENSEMBL:ENSG00000116133 ; xref: REACTOME:Q15392] ICD10:Q87.8 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Orphanet ID- 10371 ICD10:D55.3 Gene [OrphaNum:123953 ; Name:5'-nucleotidase, cytosolic III ; Symbol:NT5C3 ; xref: GENATLAS:NT5C3 ; xref: HGNC:17820 ; xref: OMIM:606224 ; xref: UNIPROTKB/SWISSPROT:Q9H0P0 ; xref: ENSEMBL:ENSG00000122643 ; xref: REACTOME:Q9H0P0] OMIM:266120 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 Acid phosphatase deficiency Gene [OrphaNum:117741 ; Name:Acid phosphatase 2, lysosomal ; Symbol:ACP2 ; xref: GENATLAS:ACP2 ; xref: HGNC:123 ; xref: OMIM:171650 ; xref: UNIPROTKB/SWISSPROT:P11117 ; xref: ENSEMBL:ENSG00000134575] OMIM:200950 ICD10:E83.3 Orphanet ID- 10372 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital sucrase-isomaltase deficiency CSID Congenital sucrase-isomaltose malabsorption Congenital sucrose intolerance Disaccharide intolerance prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10373 OMIM:222900 Congenital sucrose intolerance CSID ICD10:E74.3 Gene [OrphaNum:118716 ; Name:Sucrase-isomaltase (alpha-glucosidase) ; Symbol:SI ; xref: GENATLAS:SI ; xref: HGNC:10856 ; xref: OMIM:609845 ; xref: UNIPROTKB/SWISSPROT:P14410 ; xref: ENSEMBL:ENSG00000090402 ; xref: REACTOME:P14410] Disaccharide intolerance Congenital sucrase-isomaltose malabsorption Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 EXACT CSID EXACT Disaccharide intolerance EXACT Congenital sucrose intolerance EXACT Congenital sucrase-isomaltose malabsorption Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency 17b-hydroxysteroid dehydrogenase deficiency type 10 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency HSD deficiency MHBD deficiency SCHAD deficiency SCHAD deficiency OMIM:300438 ICD10:E71.3 HSD deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; 17b-hydroxysteroid dehydrogenase deficiency type 10 Orphanet ID- 10374 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35123 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency Gene [OrphaNum:122504 ; Name:Hydroxysteroid (17-beta) dehydrogenase 10 ; Symbol:HSD17B10 ; xref: GENATLAS:HSD17B10 ; xref: HGNC:4800 ; xref: OMIM:300256 ; xref: UNIPROTKB/SWISSPROT:Q99714 ; xref: REACTOME:Q99714 ; xref: ENSEMBL:ENSG00000072506] OMIM:300256 MHBD deficiency EXACT HSD deficiency EXACT 17b-hydroxysteroid dehydrogenase deficiency type 10 EXACT 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency EXACT SCHAD deficiency EXACT MHBD deficiency EXACT 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency Epidermal nevus syndrome Epidermal hamartoma syndrome Orphanet ID- 10375 ICD10:Q85.8 Epidermal hamartoma syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; EXACT Epidermal hamartoma syndrome X-linked dominant chondrodysplasia punctata CDPX2 Chondrodystrophia calcificans congenita Conradi-Hünermann-Happle syndrome Chondrodystrophia calcificans congenita prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked dominant; ICD10:Q77.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 Gene [OrphaNum:121250 ; Name:Emopamil binding protein (sterol isomerase) ; Symbol:EBP ; xref: GENATLAS:EBP ; xref: HGNC:3133 ; xref: OMIM:300205 ; xref: UNIPROTKB/SWISSPROT:Q15125 ; xref: ENSEMBL:ENSG00000147155 ; xref: REACTOME:Q15125] Orphanet ID- 10376 CDPX2 Conradi-Hünermann-Happle syndrome OMIM:302960 EXACT Conradi-Hünermann-Happle syndrome EXACT Chondrodystrophia calcificans congenita EXACT CDPX2 Nanophthalmia OMIM:600165 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 Orphanet ID- 10378 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; ICD10:Q11.2 Gene [OrphaNum:123212 ; Name:Membrane frizzled-related protein ; Symbol:MFRP ; xref: GENATLAS:MFRP ; xref: HGNC:18121 ; xref: OMIM:606227 ; xref: UNIPROTKB/SWISSPROT:Q9BY79 ; xref: ENSEMBL:ENSG00000259159] OMIM:611897 OMIM:609549 Coenzyme Q 10 deficiency CoQ10 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 OMIM:608158 CoQ10 deficiency OMIM:607426 Orphanet ID- 10380 OMIM:614652 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT CoQ10 deficiency ALDH18A1-related DeBarsy syndrome Delta-1-pyrroline 5-carboxylate synthetase deficiency Neurocutaneous syndrome, Bicknell type P5CS deficiency Delta-1-pyrroline 5-carboxylate synthetase deficiency P5CS deficiency OMIM:219150 Neurocutaneous syndrome, Bicknell type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Gene [OrphaNum:119578 ; Name:Aldehyde dehydrogenase 18 family, member A1 ; Symbol:ALDH18A1 ; xref: GENATLAS:ALDH18A1 ; xref: HGNC:9722 ; xref: OMIM:138250 ; xref: UNIPROTKB/SWISSPROT:P54886 ; xref: ENSEMBL:ENSG00000059573 ; xref: REACTOME:P54886] Orphanet ID- 10381 ICD10:E72.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 EXACT P5CS deficiency EXACT Delta-1-pyrroline 5-carboxylate synthetase deficiency EXACT Neurocutaneous syndrome, Bicknell type Madelung deformity Madelung disease Orphanet ID- 10384 OMIM:127300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35688 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Madelung disease ICD10:Q74.0 EXACT Madelung disease Primary lateral sclerosis Adult-onset PLS Adult-onset primary lateral sclerosis Lateral Scleroses, Primary Lateral Sclerosis, Primary PLS Primary Lateral Scleroses Primary Lateral Sclerosis Sclerosis, Primary Lateral OMIM:611637 ICD10:G12.2 PLS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; Adult-onset PLS Orphanet ID- 10385 Adult-onset primary lateral sclerosis EXACT PLS EXACT Adult-onset PLS EXACT Adult-onset primary lateral sclerosis Combined oxidative phosphorylation defect prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696 Orphanet ID- 10386 Mitochondrial DNA depletion syndrome mtDNA depletion syndrome ICD10:E88.8 Orphanet ID- 10388 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; mtDNA depletion syndrome EXACT mtDNA depletion syndrome Duane syndrome DRS Duane retraction syndrome prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:604356 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 ICD10:H50.8 Orphanet ID- 1039 Gene [OrphaNum:120780 ; Name:Carboxypeptidase A6 ; Symbol:CPA6 ; xref: GENATLAS:CPA6 ; xref: HGNC:17245 ; xref: OMIM:609562 ; xref: UNIPROTKB/SWISSPROT:Q8N4T0 ; xref: ENSEMBL:ENSG00000165078] Duane retraction syndrome OMIM:126800 DRS Gene [OrphaNum:182553 ; Name:Chimerin (chimaerin) 1 ; Symbol:CHN1 ; xref: REACTOME:P15882 ; xref: ENSEMBL:ENSG00000128656 ; xref: GENATLAS:CHN1 ; xref: HGNC:1943 ; xref: OMIM:118423 ; xref: UNIPROTKB/SWISSPROT:P15882] EXACT Duane retraction syndrome EXACT DRS 3-hydroxy 3-methylglutaryl-CoA synthase deficiency HMG-CoA synthase deficiency HMG-CoA synthase deficiency OMIM:605911 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 Gene [OrphaNum:122453 ; Name:3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial) ; Symbol:HMGCS2 ; xref: GENATLAS:HMGCS2 ; xref: HGNC:5008 ; xref: OMIM:600234 ; xref: UNIPROTKB/SWISSPROT:P54868 ; xref: ENSEMBL:ENSG00000134240 ; xref: REACTOME:P54868] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10391 ICD10:E71.3 EXACT HMG-CoA synthase deficiency Arginine:glycine amidinotransferase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 Orphanet ID- 10393 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122037 ; Name:Glycine amidinotransferase (L-arginine:glycine amidinotransferase) ; Symbol:GATM ; xref: GENATLAS:GATM ; xref: HGNC:4175 ; xref: OMIM:602360 ; xref: UNIPROTKB/SWISSPROT:P50440 ; xref: ENSEMBL:ENSG00000171766 ; xref: REACTOME:P50440] ICD10:E72.8 OMIM:612718 Neurometabolic disorder due to serine deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10394 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 Glutaric acidemia type 3 Glutaric aciduria type 3 Glutaryl-CoA oxidase deficiency prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:E72.3 Orphanet ID- 10395 Gene [OrphaNum:169960 ; Name:Chromosome 7 open reading frame 10 ; Symbol:C7ORF10 ; xref: OMIM:609187 ; xref: UNIPROTKB/SWISSPROT:Q9HAC7 ; xref: GENATLAS:DERP13 ; xref: HGNC:16001 ; xref: ENSEMBL:ENSG00000175600] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 Glutaryl-CoA oxidase deficiency OMIM:231690 Glutaric aciduria type 3 EXACT Glutaryl-CoA oxidase deficiency EXACT Glutaric aciduria type 3 Aromatic L-aminoacid decarboxylase deficiency AADC deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 Orphanet ID- 10397 ICD10:G24.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121047 ; Name:Dopa decarboxylase (aromatic L-amino acid decarboxylase) ; Symbol:DDC ; xref: GENATLAS:DDC ; xref: HGNC:2719 ; xref: OMIM:107930 ; xref: UNIPROTKB/SWISSPROT:P20711 ; xref: ENSEMBL:ENSG00000132437 ; xref: REACTOME:P20711] OMIM:608643 AADC deficiency EXACT AADC deficiency Glucose-galactose malabsorption SGLT1 deficiency Gene [OrphaNum:119693 ; Name:Solute carrier family 5 (sodium/glucose cotransporter), member 1 ; Symbol:SLC5A1 ; xref: GENATLAS:SLC5A1 ; xref: HGNC:11036 ; xref: OMIM:182380 ; xref: UNIPROTKB/SWISSPROT:P13866 ; xref: REACTOME:P13866 ; xref: ENSEMBL:ENSG00000100170] ICD10:E74.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 OMIM:606824 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10398 SGLT1 deficiency EXACT SGLT1 deficiency Morning glory syndrome Ectasic coloboma Volubilis syndrome Volubilis syndrome Ectasic coloboma Orphanet ID- 10399 ICD10:Q14.2 Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 OMIM:120430 EXACT Volubilis syndrome EXACT Ectasic coloboma Ataxia-telangiectasia Louis-Bar syndrome OMIM:208900 OMIM:208910 Louis-Bar syndrome ICD10:G11.3 Orphanet ID- 104 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Autosomal recessive; Gene [OrphaNum:121474 ; Name:Ataxia telangiectasia mutated ; Symbol:ATM ; xref: GENATLAS:ATM ; xref: HGNC:795 ; xref: OMIM:607585 ; xref: UNIPROTKB/SWISSPROT:Q13315 ; xref: ENSEMBL:ENSG00000149311 ; xref: REACTOME:Q13315] EXACT Louis-Bar syndrome Grasbeck-Imerslund disease Familial megaloblastic anemia Selective cobalamin malabsorption with proteinuria prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:138568 ; Name:Amnionless homolog (mouse) ; Symbol:AMN ; xref: GENATLAS:AMN ; xref: HGNC:14604 ; xref: OMIM:605799 ; xref: UNIPROTKB/SWISSPROT:Q9BXJ7 ; xref: ENSEMBL:ENSG00000166126 ; xref: REACTOME:Q9BXJ7] ICD10:D51.1 Gene [OrphaNum:120903 ; Name:Cubilin (intrinsic factor-cobalamin receptor) ; Symbol:CUBN ; xref: GENATLAS:CUBN ; xref: HGNC:2548 ; xref: OMIM:602997 ; xref: UNIPROTKB/SWISSPROT:O60494 ; xref: REACTOME:O60494 ; xref: ENSEMBL:ENSG00000107611] OMIM:261100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 Gene [OrphaNum:159526 ; Name:Dihydrofolate reductase ; Symbol:DHFR ; xref: GENATLAS:DHFR ; xref: HGNC:2861 ; xref: OMIM:126060 ; xref: UNIPROTKB/SWISSPROT:P00374 ; xref: ENSEMBL:ENSG00000228716 ; xref: REACTOME:P00374] Orphanet ID- 10402 Selective cobalamin malabsorption with proteinuria Familial megaloblastic anemia EXACT Familial megaloblastic anemia EXACT Selective cobalamin malabsorption with proteinuria Hyperinsulinism-hyperammonemia syndrome HI/HA syndrome ICD10:E72.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10403 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 HI/HA syndrome Gene [OrphaNum:122188 ; Name:Glutamate dehydrogenase 1 ; Symbol:GLUD1 ; xref: GENATLAS:GLUD1 ; xref: HGNC:4335 ; xref: OMIM:138130 ; xref: UNIPROTKB/SWISSPROT:P00367 ; xref: ENSEMBL:ENSG00000148672 ; xref: REACTOME:P00367] OMIM:606762 EXACT HI/HA syndrome Combined deficiency of factor V and factor VIII F5F8D FV and FVIII combined deficiency Familial multiple coagulation factor deficiency Familial multiple coagulation factor deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; F5F8D Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 OMIM:613625 Orphanet ID- 10405 Gene [OrphaNum:123170 ; Name:Multiple coagulation factor deficiency 2 ; Symbol:MCFD2 ; xref: GENATLAS:MCFD2 ; xref: HGNC:18451 ; xref: OMIM:607788 ; xref: UNIPROTKB/SWISSPROT:Q8NI22 ; xref: ENSEMBL:ENSG00000180398 ; xref: REACTOME:Q8NI22] Gene [OrphaNum:123076 ; Name:Lectin, mannose-binding, 1 ; Symbol:LMAN1 ; xref: GENATLAS:LMAN1 ; xref: HGNC:6631 ; xref: OMIM:601567 ; xref: UNIPROTKB/SWISSPROT:P49257 ; xref: REACTOME:P49257 ; xref: ENSEMBL:ENSG00000074695] FV and FVIII combined deficiency ICD10:D68.8 OMIM:227310 OMIM:227300 EXACT Familial multiple coagulation factor deficiency EXACT FV and FVIII combined deficiency EXACT F5F8D Polymicrogyria prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant; Orphanet ID- 10406 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 ICD10:Q04.3 Intestinal lymphangiectasia Orphanet ID- 10407 OMIM:152800 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36204 P2Y12 deficiency ADP platelet receptor P2Y12 deficiency Gene [OrphaNum:124046 ; Name:Purinergic receptor P2Y, G-protein coupled, 12 ; Symbol:P2RY12 ; xref: GENATLAS:P2RY12 ; xref: HGNC:18124 ; xref: OMIM:600515 ; xref: UNIPROTKB/SWISSPROT:Q9H244 ; xref: IUPHAR:328 ; xref: ENSEMBL:ENSG00000169313 ; xref: REACTOME:Q9H244] Orphanet ID- 10417 ICD10:D69.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355 ADP platelet receptor P2Y12 deficiency OMIM:609821 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT ADP platelet receptor P2Y12 deficiency Distal monosomy 1q Distal deletion 1q Monosomy 1qter Telomeric deletion 1q Monosomy 1qter ICD10:Q93.5 Telomeric deletion 1q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 Orphanet ID- 10418 Distal deletion 1q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:612337 EXACT Distal deletion 1q EXACT Telomeric deletion 1q EXACT Monosomy 1qter Autosomal recessive spondylocostal dysostosis Jarcho-Levin syndrome OMIM:613686 Jarcho-Levin syndrome Gene [OrphaNum:159744 ; Name:LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase ; Symbol:LFNG ; xref: GENATLAS:LFNG ; xref: HGNC:6560 ; xref: OMIM:602576 ; xref: UNIPROTKB/SWISSPROT:Q8NES3 ; xref: REACTOME:Q8NES3 ; xref: ENSEMBL:ENSG00000106003] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 OMIM:277300 OMIM:608681 Gene [OrphaNum:139173 ; Name:Mesoderm posterior 2 homolog ; Symbol:MESP2 ; xref: GENATLAS:MESP2 ; xref: HGNC:29659 ; xref: OMIM:605195 ; xref: UNIPROTKB/SWISSPROT:Q0VG99 ; xref: ENSEMBL:ENSG00000188095] Gene [OrphaNum:121110 ; Name:Delta-like 3 (Drosophila) ; Symbol:DLL3 ; xref: GENATLAS:DLL3 ; xref: HGNC:2909 ; xref: OMIM:602768 ; xref: UNIPROTKB/SWISSPROT:Q9NYJ7 ; xref: ENSEMBL:ENSG00000090932] OMIM:609813 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:165577 ; Name:Hairy and enhancer of split 7 (Drosophila) ; Symbol:HES7 ; xref: GENATLAS:HES7 ; xref: HGNC:15977 ; xref: OMIM:608059 ; xref: UNIPROTKB/SWISSPROT:Q9BYE0 ; xref: ENSEMBL:ENSG00000179111] Orphanet ID- 1042 ICD10:Q76.8 EXACT Jarcho-Levin syndrome Familial cerebral vascular accident Orphanet ID- 10420 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36382 Familial vascular leukoencephalopathy Brain small vessel disease with hemorrhage Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy ICD10:I67.3 Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 Brain small vessel disease with hemorrhage prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120716 ; Name:Collagen, type IV, alpha 1 ; Symbol:COL4A1 ; xref: GENATLAS:COL4A1 ; xref: HGNC:2202 ; xref: OMIM:120130 ; xref: UNIPROTKB/SWISSPROT:P02462 ; xref: ENSEMBL:ENSG00000187498 ; xref: REACTOME:P02462] Orphanet ID- 10421 OMIM:607595 EXACT Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy EXACT Brain small vessel disease with hemorrhage Hereditary sensory and autonomic neuropathy type 1 HSAN 1 Gene [OrphaNum:270026 ; Name:DNA (cytosine-5-)-methyltransferase 1 ; Symbol:DNMT1 ; xref: ENSEMBL:ENSG00000130816 ; xref: HGNC:2976 ; xref: OMIM:126375 ; xref: GENATLAS:DNMT1 ; xref: UNIPROTKB/SWISSPROT:P26358] OMIM:162400 Gene [OrphaNum:119821 ; Name:Atlastin GTPase 1 ; Symbol:ATL1 ; xref: GENATLAS:SPG3A ; xref: HGNC:11231 ; xref: OMIM:606439 ; xref: UNIPROTKB/SWISSPROT:Q8WXF7 ; xref: ENSEMBL:ENSG00000198513] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 OMIM:614116 OMIM:613640 Orphanet ID- 10423 OMIM:613708 Gene [OrphaNum:119854 ; Name:Serine palmitoyltransferase, long chain base subunit 1 ; Symbol:SPTLC1 ; xref: GENATLAS:SPTLC1 ; xref: HGNC:11277 ; xref: OMIM:605712 ; xref: UNIPROTKB/SWISSPROT:O15269 ; xref: REACTOME:O15269 ; xref: ENSEMBL:ENSG00000090054] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; HSAN 1 Gene [OrphaNum:244400 ; Name:Serine palmitoyltransferase, long chain base subunit 2 ; Symbol:SPTLC2 ; xref: GENATLAS:SPTLC2 ; xref: HGNC:11278 ; xref: OMIM:605713 ; xref: UNIPROTKB/SWISSPROT:O15270 ; xref: ENSEMBL:ENSG00000100596 ; xref: REACTOME:O15270] ICD10:G60.8 EXACT HSAN 1 Generalized epilepsy with febrile seizures-plus context GEFS+ Gene [OrphaNum:118498 ; Name:Sodium channel, voltage-gated, type I, beta ; Symbol:SCN1B ; xref: GENATLAS:SCN1B ; xref: HGNC:10586 ; xref: OMIM:600235 ; xref: UNIPROTKB/SWISSPROT:Q07699 ; xref: ENSEMBL:ENSG00000105711 ; xref: REACTOME:Q07699] Orphanet ID- 10424 OMIM:604403 OMIM:613060 OMIM:604233 Gene [OrphaNum:121993 ; Name:Gamma-aminobutyric acid (GABA) A receptor, gamma 2 ; Symbol:GABRG2 ; xref: GENATLAS:GABRG2 ; xref: HGNC:4087 ; xref: OMIM:137164 ; xref: UNIPROTKB/SWISSPROT:P18507 ; xref: REACTOME:P18507 ; xref: IUPHAR:414 ; xref: ENSEMBL:ENSG00000113327] Gene [OrphaNum:118489 ; Name:Sodium channel, voltage-gated, type I, alpha subunit ; Symbol:SCN1A ; xref: GENATLAS:SCN1A ; xref: HGNC:10585 ; xref: OMIM:182389 ; xref: UNIPROTKB/SWISSPROT:P35498 ; xref: IUPHAR:578 ; xref: ENSEMBL:ENSG00000144285 ; xref: REACTOME:P35498] ICD10:G40.3 OMIM:613863 OMIM:613828 GEFS+ OMIM:609800 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:611277 OMIM:612279 Gene [OrphaNum:118500 ; Name:Sodium channel, voltage-gated, type II, alpha subunit ; Symbol:SCN2A ; xref: GENATLAS:SCN2A ; xref: HGNC:10588 ; xref: OMIM:182390 ; xref: UNIPROTKB/SWISSPROT:Q99250 ; xref: REACTOME:Q99250 ; xref: ENSEMBL:ENSG00000136531 ; xref: IUPHAR:579] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 Gene [OrphaNum:118525 ; Name:Sodium channel, voltage-gated, type IX, alpha subunit ; Symbol:SCN9A ; xref: GENATLAS:SCN9A ; xref: HGNC:10597 ; xref: OMIM:603415 ; xref: UNIPROTKB/SWISSPROT:Q15858 ; xref: ENSEMBL:ENSG00000169432 ; xref: IUPHAR:584 ; xref: REACTOME:Q15858] Gene [OrphaNum:121991 ; Name:Gamma-aminobutyric acid (GABA) A receptor, delta ; Symbol:GABRD ; xref: GENATLAS:GABRD ; xref: HGNC:4084 ; xref: OMIM:137163 ; xref: UNIPROTKB/SWISSPROT:O14764 ; xref: IUPHAR:416 ; xref: ENSEMBL:ENSG00000187730] EXACT GEFS+ Leri-Weill dyschondrosteosis Léri-Weill syndrome OMIM:127300 Gene [OrphaNum:118707 ; Name:Short stature homeobox ; Symbol:SHOX ; xref: GENATLAS:SHOX ; xref: HGNC:10853 ; xref: OMIM:312865 ; xref: UNIPROTKB/SWISSPROT:O15266 ; xref: ENSEMBL:ENSG00000185960] ICD10:Q77.8 Léri-Weill syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 1043 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 EXACT Léri-Weill syndrome Myoclonic dystonia Alcohol-responsive dystonia DYT11 Myoclonus-dystonia syndrome Alcohol-responsive dystonia Gene [OrphaNum:121177 ; Name:Dopamine receptor D2 ; Symbol:DRD2 ; xref: GENATLAS:DRD2 ; xref: HGNC:3023 ; xref: OMIM:126450 ; xref: UNIPROTKB/SWISSPROT:P14416 ; xref: IUPHAR:215 ; xref: ENSEMBL:ENSG00000149295 ; xref: REACTOME:P14416] OMIM:159900 DYT11 ICD10:G24.1 ICD10:G25.3 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:118663 ; Name:Sarcoglycan, epsilon ; Symbol:SGCE ; xref: GENATLAS:SGCE ; xref: HGNC:10808 ; xref: OMIM:604149 ; xref: UNIPROTKB/SWISSPROT:O43556 ; xref: ENSEMBL:ENSG00000127990] Gene [OrphaNum:120201 ; Name:Torsin family 1, member A (torsin A) ; Symbol:TOR1A ; xref: GENATLAS:TOR1A ; xref: HGNC:3098 ; xref: OMIM:605204 ; xref: UNIPROTKB/SWISSPROT:O14656 ; xref: ENSEMBL:ENSG00000136827] Orphanet ID- 10437 Myoclonus-dystonia syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 EXACT Alcohol-responsive dystonia EXACT Myoclonus-dystonia syndrome EXACT DYT11 46,XY complete gonadal dysgenesis 46,XY CGD 46,XY pure gonadal dysgenesis Swyer syndrome 46,XY CGD Gene [OrphaNum:260583 ; Name:mitogen-activated protein kinase kinase kinase 1 ; Symbol:MAP3K1 ; xref: ENSEMBL:ENSG00000095015 ; xref: REACTOME:Q13233 ; xref: OMIM:600982 ; xref: HGNC:6848 ; xref: GENATLAS:MAP3K1 ; xref: UNIPROTKB/SWISSPROT:Q13233] OMIM:613080 OMIM:154230 Gene [OrphaNum:121069 ; Name:Desert hedgehog homolog (Drosophila) ; Symbol:DHH ; xref: GENATLAS:DHH ; xref: HGNC:2865 ; xref: OMIM:605423 ; xref: UNIPROTKB/SWISSPROT:O43323 ; xref: REACTOME:O43323 ; xref: ENSEMBL:ENSG00000139549] ICD10:Q97.3 OMIM:233420 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 Gene [OrphaNum:119865 ; Name:Sex determining region Y ; Symbol:SRY ; xref: GENATLAS:SRY ; xref: HGNC:11311 ; xref: OMIM:480000 ; xref: UNIPROTKB/SWISSPROT:Q05066 ; xref: ENSEMBL:ENSG00000184895] OMIM:300018 OMIM:613762 OMIM:612965 Gene [OrphaNum:123902 ; Name:Nuclear receptor subfamily 0, group B, member 1 ; Symbol:NR0B1 ; xref: GENATLAS:NR0B1 ; xref: HGNC:7960 ; xref: OMIM:300473 ; xref: UNIPROTKB/SWISSPROT:P51843 ; xref: IUPHAR:635 ; xref: ENSEMBL:ENSG00000169297 ; xref: REACTOME:P51843] Gene [OrphaNum:168365 ; Name:Doublesex and mab-3 related transcription factor 2 ; Symbol:DMRT2 ; xref: GENATLAS:DMRT2 ; xref: HGNC:2935 ; xref: OMIM:604935 ; xref: UNIPROTKB/SWISSPROT:Q9Y5R5 ; xref: ENSEMBL:ENSG00000173253] 46,XY pure gonadal dysgenesis OMIM:400044 Gene [OrphaNum:240686 ; Name:Chromobox homolog 2 ; Symbol:CBX2 ; xref: UNIPROTKB/SWISSPROT:Q14781 ; xref: GENATLAS:CBX2 ; xref: ENSEMBL:ENSG00000173894 ; xref: HGNC:1552 ; xref: OMIM:602770] Gene [OrphaNum:168362 ; Name:Doublesex and mab-3 related transcription factor 1 ; Symbol:DMRT1 ; xref: GENATLAS:DMRT1 ; xref: HGNC:2934 ; xref: OMIM:602424 ; xref: UNIPROTKB/SWISSPROT:Q9Y5R6 ; xref: ENSEMBL:ENSG00000137090] Gene [OrphaNum:168312 ; Name:Nuclear receptor subfamily 5, group A, member 1 ; Symbol:NR5A1 ; xref: GENATLAS:NR5A1 ; xref: HGNC:7983 ; xref: OMIM:184757 ; xref: UNIPROTKB/SWISSPROT:Q13285 ; xref: IUPHAR:632 ; xref: REACTOME:Q13285 ; xref: ENSEMBL:ENSG00000136931] Swyer syndrome Orphanet ID- 1044 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; EXACT 46,XY pure gonadal dysgenesis EXACT Swyer syndrome EXACT 46,XY CGD X-linked immune dysregulation - polyendocrinopathy - enteropathy Autoimmune enteropathy type 1 IPEX Orphanet ID- 10440 Gene [OrphaNum:121913 ; Name:Forkhead box P3 ; Symbol:FOXP3 ; xref: GENATLAS:FOXP3 ; xref: HGNC:6106 ; xref: OMIM:300292 ; xref: UNIPROTKB/SWISSPROT:Q9BZS1 ; xref: ENSEMBL:ENSG00000049768] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- X-linked recessive; ICD10:D84.8 IPEX ICD10:K52.8 Autoimmune enteropathy type 1 ICD10:E31.8 OMIM:304790 EXACT IPEX EXACT Autoimmune enteropathy type 1 Cardiodysrythmic potassium-sensitive periodic paralysis Andersen cardiodysrythmic periodic paralysis Andersen syndrome Andersen-Tawil syndrome LQT7 QT long syndrome type 7 Orphanet ID- 10442 Andersen-Tawil syndrome ICD10:G72.3 Andersen syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:170390 QT long syndrome type 7 Gene [OrphaNum:122791 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 2 ; Symbol:KCNJ2 ; xref: GENATLAS:KCNJ2 ; xref: HGNC:6263 ; xref: OMIM:600681 ; xref: UNIPROTKB/SWISSPROT:P63252 ; xref: IUPHAR:430 ; xref: ENSEMBL:ENSG00000123700 ; xref: REACTOME:P63252] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 LQT7 Andersen cardiodysrythmic periodic paralysis EXACT Andersen syndrome EXACT Andersen-Tawil syndrome EXACT Andersen cardiodysrythmic periodic paralysis EXACT QT long syndrome type 7 EXACT LQT7 Episodic ataxia type 1 Episodic ataxia with myokymia ICD10:G11.8 Gene [OrphaNum:122756 ; Name:Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) ; Symbol:KCNA1 ; xref: GENATLAS:KCNA1 ; xref: HGNC:6218 ; xref: OMIM:176260 ; xref: UNIPROTKB/SWISSPROT:Q09470 ; xref: IUPHAR:538 ; xref: ENSEMBL:ENSG00000111262 ; xref: REACTOME:Q09470] OMIM:160120 Episodic ataxia with myokymia Orphanet ID- 10444 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Episodic ataxia with myokymia Gitelman syndrome Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria OMIM:263800 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1045 Gene [OrphaNum:119467 ; Name:Chloride channel Kb ; Symbol:CLCNKB ; xref: GENATLAS:CLCNKB ; xref: HGNC:2027 ; xref: OMIM:602023 ; xref: UNIPROTKB/SWISSPROT:P51801 ; xref: ENSEMBL:ENSG00000184908] Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria Gene [OrphaNum:118740 ; Name:Solute carrier family 12 (sodium/chloride transporters), member 3 ; Symbol:SLC12A3 ; xref: GENATLAS:SLC12A3 ; xref: HGNC:10912 ; xref: OMIM:600968 ; xref: UNIPROTKB/SWISSPROT:P55017 ; xref: ENSEMBL:ENSG00000070915 ; xref: REACTOME:P55017] ICD10:N15.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358 EXACT Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria Dihydropyrimidinuria Dihydropyrimidinase deficiency Gene [OrphaNum:121174 ; Name:Dihydropyrimidinase ; Symbol:DPYS ; xref: GENATLAS:DPYS ; xref: HGNC:3013 ; xref: UNIPROTKB/SWISSPROT:Q14117 ; xref: OMIM:613326 ; xref: ENSEMBL:ENSG00000147647 ; xref: REACTOME:Q14117] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 ICD10:E79.8 Dihydropyrimidinase deficiency Orphanet ID- 10451 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:222748 EXACT Dihydropyrimidinase deficiency Omenn syndrome Severe combined immunodeficiency with hypereosinophilia Gene [OrphaNum:118218 ; Name:Recombination activating gene 2 ; Symbol:RAG2 ; xref: GENATLAS:RAG2 ; xref: HGNC:9832 ; xref: OMIM:179616 ; xref: UNIPROTKB/SWISSPROT:P55895 ; xref: ENSEMBL:ENSG00000175097] Orphanet ID- 10452 Severe combined immunodeficiency with hypereosinophilia OMIM:603554 Gene [OrphaNum:123058 ; Name:Ligase IV, DNA, ATP-dependent ; Symbol:LIG4 ; xref: GENATLAS:LIG4 ; xref: HGNC:6601 ; xref: OMIM:601837 ; xref: UNIPROTKB/SWISSPROT:P49917 ; xref: REACTOME:P49917 ; xref: ENSEMBL:ENSG00000174405] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=39041 Gene [OrphaNum:118215 ; Name:Recombination activating gene 1 ; Symbol:RAG1 ; xref: GENATLAS:RAG1 ; xref: HGNC:9831 ; xref: OMIM:179615 ; xref: UNIPROTKB/SWISSPROT:P15918 ; xref: ENSEMBL:ENSG00000166349] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:121027 ; Name:DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) ; Symbol:DCLRE1C ; xref: GENATLAS:DCLRE1C ; xref: HGNC:17642 ; xref: OMIM:605988 ; xref: UNIPROTKB/SWISSPROT:Q96SD1 ; xref: ENSEMBL:ENSG00000152457] EXACT Severe combined immunodeficiency with hypereosinophilia Fraser syndrome Cryptophthalmos-syndactyly syndrome Gene [OrphaNum:121927 ; Name:FRAS1 related extracellular matrix protein 2 ; Symbol:FREM2 ; xref: GENATLAS:FREM2 ; xref: HGNC:25396 ; xref: OMIM:608945 ; xref: UNIPROTKB/SWISSPROT:Q5SZK8 ; xref: ENSEMBL:ENSG00000150893] Gene [OrphaNum:303028 ; Name:Glutamate receptor interacting protein 1 ; Symbol:GRIP1 ; xref: HGNC:18708 ; xref: OMIM:604597 ; xref: GENATLAS:GRIP1 ; xref: UNIPROTKB/SWISSPROT:Q9Y3R0] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1046 ICD10:Q87.0 Cryptophthalmos-syndactyly syndrome Gene [OrphaNum:121922 ; Name:Fraser syndrome 1 ; Symbol:FRAS1 ; xref: GENATLAS:FRAS1 ; xref: HGNC:19185 ; xref: OMIM:607830 ; xref: UNIPROTKB/SWISSPROT:Q86XX4 ; xref: ENSEMBL:ENSG00000138759] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 OMIM:219000 EXACT Cryptophthalmos-syndactyly syndrome Bietti crystalline dystrophy BCD Bietti crystalline corneoretinal dystrophy Bietti crystalline retinopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:210370 Gene [OrphaNum:121002 ; Name:Cytochrome P450, family 4, subfamily V, polypeptide 2 ; Symbol:CYP4V2 ; xref: GENATLAS:CYP4V2 ; xref: HGNC:23198 ; xref: OMIM:608614 ; xref: UNIPROTKB/SWISSPROT:Q6ZWL3 ; xref: ENSEMBL:ENSG00000145476] Bietti crystalline corneoretinal dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 BCD Bietti crystalline retinopathy Orphanet ID- 10464 EXACT BCD EXACT Bietti crystalline corneoretinal dystrophy EXACT Bietti crystalline retinopathy Iminoglycinuria Gene [OrphaNum:119703 ; Name:Solute carrier family 6 (neutral amino acid transporter), member 19 ; Symbol:SLC6A19 ; xref: GENATLAS:SLC6A19 ; xref: HGNC:27960 ; xref: OMIM:608893 ; xref: UNIPROTKB/SWISSPROT:Q695T7 ; xref: ENSEMBL:ENSG00000174358 ; xref: REACTOME:Q695T7] prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:173500 ; Name:Solute carrier family 36 (proton/amino acid symporter), member 2 ; Symbol:SLC36A2 ; xref: GENATLAS:SLC36A2 ; xref: HGNC:18762 ; xref: OMIM:608331 ; xref: UNIPROTKB/SWISSPROT:Q495M3 ; xref: ENSEMBL:ENSG00000186335 ; xref: REACTOME:Q495M3] ICD10:E72.0 OMIM:242600 Orphanet ID- 10466 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 Gene [OrphaNum:173509 ; Name:Solute carrier family 6, member 18 ; Symbol:SLC6A18 ; xref: GENATLAS:SLC6A18 ; xref: HGNC:26441 ; xref: OMIM:610300 ; xref: UNIPROTKB/SWISSPROT:Q96N87 ; xref: ENSEMBL:ENSG00000164363 ; xref: REACTOME:Q96N87] Gene [OrphaNum:173505 ; Name:Solute carrier family 6 (proline IMINO transporter), member 20 ; Symbol:SLC6A20 ; xref: UNIPROTKB/SWISSPROT:Q9NP91 ; xref: GENATLAS:SLC6A20 ; xref: HGNC:30927 ; xref: OMIM:605616 ; xref: ENSEMBL:ENSG00000163817 ; xref: REACTOME:Q9NP91] Rare hemorrhagic disorder due to a constitutional coagulation factors defect Orphanet ID- 10473 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68334 Chromosomal anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68335 Orphanet ID- 10474 Rare genetic tumor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68336 Orphanet ID- 10475 Rare genetic skin disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68346 Orphanet ID- 10485 Leukodystrophy Orphanet ID- 10495 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68356 Familial adenomatous polyposis Colorectal adenomatous polyposis FAP Familial polyposis coli FAP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Familial polyposis coli Gene [OrphaNum:123585 ; Name:MutY homolog (E. coli) ; Symbol:MUTYH ; xref: ENSEMBL:ENSG00000132781 ; xref: GENATLAS:MUTYH ; xref: HGNC:7527 ; xref: OMIM:604933 ; xref: UNIPROTKB/SWISSPROT:Q9UIF7 ; xref: REACTOME:Q9UIF7] Colorectal adenomatous polyposis Orphanet ID- 105 ICD10:D12.6 EXACT Familial polyposis coli EXACT FAP EXACT Colorectal adenomatous polyposis Rare dystonia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68363 Orphanet ID- 10502 Hemoglobinopathy Orphanet ID- 10503 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68364 Lysosomal disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366 Orphanet ID- 10506 Inborn errors of metabolism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367 Orphanet ID- 10507 Peroxisomal disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68373 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10513 Congenital limb malformation Orphanet ID- 10518 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68378 Mitochondrial disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10520 Rare constitutional medullar aplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383 Orphanet ID- 10523 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Neurometabolic disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68385 Orphanet ID- 10525 Neurofibromatosis Orphanet ID- 10528 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68388 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare parkinsonian syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68402 Orphanet ID- 10542 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 48,XXYY syndrome 48,XXYY ICD10:Q98.8 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 48,XXYY Orphanet ID- 1056 EXACT 48,XXYY Marshall's syndrome with periodic fever PFAPA syndrome Periodic fever, aphtous stomatitis, pharyngitis, adenopathy syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42642 Orphanet ID- 10573 Periodic fever, aphtous stomatitis, pharyngitis, adenopathy syndrome ICD10:R50.8 PFAPA syndrome EXACT Periodic fever, aphtous stomatitis, pharyngitis, adenopathy syndrome EXACT PFAPA syndrome Tietz syndrome Hypopigmentation-deafness syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 Gene [OrphaNum:123243 ; Name:Microphthalmia-associated transcription factor ; Symbol:MITF ; xref: GENATLAS:MITF ; xref: HGNC:7105 ; xref: OMIM:156845 ; xref: UNIPROTKB/SWISSPROT:O75030 ; xref: ENSEMBL:ENSG00000187098] OMIM:103500 Hypopigmentation-deafness syndrome Orphanet ID- 10575 EXACT Hypopigmentation-deafness syndrome Severe congenital neutropenia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42738 Orphanet ID- 10576 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; PHACE syndrome Pascual-Castroviejo syndrome type 2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 OMIM:606519 Orphanet ID- 10577 Pascual-Castroviejo syndrome type 2 EXACT Pascual-Castroviejo syndrome type 2 Aconitase deficiency Hereditary myopathy with lactic acidosis Myopathy with exercise intolerance, Swedish type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:168093 ; Name:Iron-sulfur cluster scaffold homolog (E. coli) ; Symbol:ISCU ; xref: GENATLAS:ISCU ; xref: HGNC:29882 ; xref: OMIM:611911 ; xref: UNIPROTKB/SWISSPROT:Q9H1K1 ; xref: ENSEMBL:ENSG00000136003] Orphanet ID- 10579 Myopathy with exercise intolerance, Swedish type OMIM:255125 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 Hereditary myopathy with lactic acidosis EXACT Hereditary myopathy with lactic acidosis EXACT Myopathy with exercise intolerance, Swedish type Isolated anorectal malformation OMIM:301800 OMIM:107100 ICD10:Q42.3 Orphanet ID- 1058 ICD10:Q42.2 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; OMIM:207500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557 Gastrointestinal stromal tumor GIST Gene [OrphaNum:118558 ; Name:Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa ; Symbol:SDHC ; xref: GENATLAS:SDHC ; xref: HGNC:10682 ; xref: OMIM:602413 ; xref: UNIPROTKB/SWISSPROT:Q99643 ; xref: ENSEMBL:ENSG00000143252 ; xref: REACTOME:Q99643] OMIM:606764 Gene [OrphaNum:124154 ; Name:Platelet-derived growth factor receptor, alpha polypeptide ; Symbol:PDGFRA ; xref: GENATLAS:PDGFRA ; xref: HGNC:8803 ; xref: OMIM:173490 ; xref: UNIPROTKB/SWISSPROT:P16234 ; xref: ENSEMBL:ENSG00000134853 ; xref: REACTOME:P16234] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; ICD10:C26.9 Gene [OrphaNum:122862 ; Name:V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog ; Symbol:KIT ; xref: GENATLAS:KIT ; xref: HGNC:6342 ; xref: OMIM:164920 ; xref: UNIPROTKB/SWISSPROT:P10721 ; xref: REACTOME:P10721 ; xref: ENSEMBL:ENSG00000157404] GIST Orphanet ID- 10584 EXACT GIST Congenital fibrosis of extraocular muscles FEOM Gene [OrphaNum:122847 ; Name:Kinesin family member 21A ; Symbol:KIF21A ; xref: OMIM:608283 ; xref: UNIPROTKB/SWISSPROT:Q7Z4S6 ; xref: GENATLAS:KIF21A ; xref: HGNC:19349 ; xref: ENSEMBL:ENSG00000139116] Gene [OrphaNum:226013 ; Name:Tubulin, beta 3 ; Symbol:TUBB3 ; xref: GENATLAS:TUBB3 ; xref: HGNC:20772 ; xref: OMIM:602661 ; xref: UNIPROTKB/SWISSPROT:Q13509 ; xref: ENSEMBL:ENSG00000198211 ; xref: REACTOME:Q13509] OMIM:609428 ICD10:H49.8 OMIM:600638 Gene [OrphaNum:117799 ; Name:Paired-like homeobox 2a ; Symbol:PHOX2A ; xref: GENATLAS:PHOX2A ; xref: HGNC:691 ; xref: OMIM:602753 ; xref: UNIPROTKB/SWISSPROT:O14813 ; xref: ENSEMBL:ENSG00000165462] FEOM OMIM:609384 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 Orphanet ID- 10586 OMIM:135700 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:609612 OMIM:602078 EXACT FEOM Miyoshi myopathy Orphanet ID- 10589 Gene [OrphaNum:121246 ; Name:Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) ; Symbol:DYSF ; xref: GENATLAS:DYSF ; xref: HGNC:3097 ; xref: OMIM:603009 ; xref: UNIPROTKB/SWISSPROT:O75923 ; xref: ENSEMBL:ENSG00000135636] prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; OMIM:613319 Gene [OrphaNum:120137 ; Name:Anoctamin 5 ; Symbol:ANO5 ; xref: HGNC:27337 ; xref: OMIM:608662 ; xref: GENATLAS:ANO5 ; xref: UNIPROTKB/SWISSPROT:Q75V66 ; xref: ENSEMBL:ENSG00000171714] OMIM:613318 ICD10:G71.0 OMIM:254130 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 Barth syndrome 3-methylglutaconic aciduria type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathy-neutropenia MGA2 X-linked cardioskeletal myopathy and neutropenia X-linked cardioskeletal myopathy and neutropenia 3-methylglutaconic aciduria type 2 Gene [OrphaNum:119930 ; Name:Tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ; Symbol:TAZ ; xref: GENATLAS:TAZ ; xref: HGNC:11577 ; xref: OMIM:300394 ; xref: UNIPROTKB/SWISSPROT:Q16635 ; xref: ENSEMBL:ENSG00000102125 ; xref: REACTOME:Q16635] ICD10:E71.1 BTHS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- X-linked recessive; Cardioskeletal myopathy with neutropenia and abnormal mitochondria Orphanet ID- 1059 OMIM:302060 Cardioskeletal myopathy-neutropenia MGA2 EXACT 3-methylglutaconic aciduria type 2 EXACT BTHS EXACT MGA2 EXACT Cardioskeletal myopathy with neutropenia and abnormal mitochondria EXACT Cardioskeletal myopathy-neutropenia EXACT X-linked cardioskeletal myopathy and neutropenia Lathosterolosis Sterol C5-desaturase deficiency Orphanet ID- 10592 OMIM:607330 Gene [OrphaNum:118487 ; Name:Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like ; Symbol:SC5DL ; xref: GENATLAS:SC5DL ; xref: HGNC:10547 ; xref: OMIM:602286 ; xref: UNIPROTKB/SWISSPROT:O75845 ; xref: REACTOME:O75845 ; xref: ENSEMBL:ENSG00000109929] Sterol C5-desaturase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 ICD10:Q87.8 EXACT Sterol C5-desaturase deficiency Paroxysmal extreme pain disorder Familial rectal pain Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 Familial rectal pain OMIM:167400 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:118525 ; Name:Sodium channel, voltage-gated, type IX, alpha subunit ; Symbol:SCN9A ; xref: GENATLAS:SCN9A ; xref: HGNC:10597 ; xref: OMIM:603415 ; xref: UNIPROTKB/SWISSPROT:Q15858 ; xref: ENSEMBL:ENSG00000169432 ; xref: IUPHAR:584 ; xref: REACTOME:Q15858] Orphanet ID- 10594 EXACT Familial rectal pain Hereditary persistence of fetal hemoglobin - beta-thalassemia HPFH - beta-thalassemia OMIM:142470 OMIM:141749 Orphanet ID- 10601 Gene [OrphaNum:139145 ; Name:B-cell CLL/lymphoma 11A (zinc finger protein) ; Symbol:BCL11A ; xref: GENATLAS:BCL11A ; xref: HGNC:13221 ; xref: OMIM:606557 ; xref: UNIPROTKB/SWISSPROT:Q9H165 ; xref: ENSEMBL:ENSG00000119866] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 ICD10:D56.4 Gene [OrphaNum:233184 ; Name:Hemoglobin, gamma A ; Symbol:HBG1 ; xref: ENSEMBL:ENSG00000213934 ; xref: REACTOME:P69891 ; xref: HGNC:4831 ; xref: GENATLAS:HBG1 ; xref: UNIPROTKB/SWISSPROT:P69891 ; xref: OMIM:142200] OMIM:305435 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Gene [OrphaNum:233186 ; Name:Hemoglobin, gamma G ; Symbol:HBG2 ; xref: ENSEMBL:ENSG00000196565 ; xref: REACTOME:P69892 ; xref: HGNC:4832 ; xref: GENATLAS:HBG2 ; xref: UNIPROTKB/SWISSPROT:P69892 ; xref: OMIM:142250] OMIM:142335 HPFH - beta-thalassemia Gene [OrphaNum:240663 ; Name:Kruppel-like factor 1 (erythroid) ; Symbol:KLF1 ; xref: GENATLAS:KLF1 ; xref: HGNC:6345 ; xref: OMIM:600599 ; xref: UNIPROTKB/SWISSPROT:Q13351 ; xref: ENSEMBL:ENSG00000105610] OMIM:613566 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; EXACT HPFH - beta-thalassemia Char syndrome Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Orphanet ID- 10602 Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120029 ; Name:Transcription factor AP-2 beta (activating enhancer binding protein 2 beta) ; Symbol:TFAP2B ; xref: GENATLAS:TFAP2B ; xref: HGNC:11743 ; xref: UNIPROTKB/SWISSPROT:Q92481 ; xref: OMIM:601601 ; xref: ENSEMBL:ENSG00000008196] OMIM:169100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 EXACT Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Primordial short stature - microdontia - opalescent and rootless teeth Orphanet ID- 10603 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46658 OMIM:210720 Cerebral arteriovenous fistula Cerebral arteriovenous shunt Orphanet ID- 10604 Cerebral arteriovenous shunt prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; ICD10:Q28.2 OMIM:108010 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 EXACT Cerebral arteriovenous shunt Familial papillary renal cell carcinoma Gene [OrphaNum:123201 ; Name:Met proto-oncogene (hepatocyte growth factor receptor) ; Symbol:MET ; xref: ENSEMBL:ENSG00000105976 ; xref: REACTOME:P08581 ; xref: GENATLAS:MET ; xref: HGNC:7029 ; xref: OMIM:164860 ; xref: UNIPROTKB/SWISSPROT:P08581] Gene [OrphaNum:120036 ; Name:Transcription factor binding to IGHM enhancer 3 ; Symbol:TFE3 ; xref: GENATLAS:TFE3 ; xref: HGNC:11752 ; xref: OMIM:314310 ; xref: UNIPROTKB/SWISSPROT:P19532 ; xref: ENSEMBL:ENSG00000068323] prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:605074 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044 OMIM:300854 Orphanet ID- 10607 Gene [OrphaNum:117989 ; Name:Papillary renal cell carcinoma (translocation-associated) ; Symbol:PRCC ; xref: GENATLAS:PRCC ; xref: HGNC:9343 ; xref: OMIM:179755 ; xref: UNIPROTKB/SWISSPROT:Q92733 ; xref: ENSEMBL:ENSG00000143294] Familial cold urticaria FCAS FCAS1 FCU Familial cold autoinflammatory syndrome Gene [OrphaNum:123821 ; Name:NLR family, pyrin domain containing 3 ; Symbol:NLRP3 ; xref: GENATLAS:NLRP3 ; xref: HGNC:16400 ; xref: OMIM:606416 ; xref: UNIPROTKB/SWISSPROT:Q96P20 ; xref: ENSEMBL:ENSG00000162711 ; xref: REACTOME:Q96P20] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 FCAS prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:120100 Familial cold autoinflammatory syndrome FCU Orphanet ID- 10608 ICD10:L50.2 FCAS1 EXACT FCAS1 EXACT Familial cold autoinflammatory syndrome EXACT FCAS EXACT FCU Familial pure proximal renal tubular acidosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10610 OMIM:179830 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159 C syndrome Opitz trigonocephaly syndrome Trigonocephaly C syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Trigonocephaly C syndrome Opitz trigonocephaly syndrome OMIM:211750 Gene [OrphaNum:138499 ; Name:CD96 molecule ; Symbol:CD96 ; xref: GENATLAS:CD96 ; xref: HGNC:16892 ; xref: OMIM:606037 ; xref: UNIPROTKB/SWISSPROT:P40200 ; xref: ENSEMBL:ENSG00000153283 ; xref: REACTOME:P40200] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 ICD10:Q87.8 Orphanet ID- 1062 EXACT Opitz trigonocephaly syndrome EXACT Trigonocephaly C syndrome Congenital cataracts - facial dysmorphism - neuropathy CCFDN prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10625 Gene [OrphaNum:120873 ; Name:CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 ; Symbol:CTDP1 ; xref: GENATLAS:CTDP1 ; xref: HGNC:2498 ; xref: OMIM:604927 ; xref: UNIPROTKB/SWISSPROT:Q9Y5B0 ; xref: ENSEMBL:ENSG00000060069 ; xref: REACTOME:Q9Y5B0] CCFDN OMIM:604168 ICD10:Q13.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 ICD10:G60.8 EXACT CCFDN Lissencephaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 Orphanet ID- 10627 Monosomy 22q13 22q13 deletion Phelan-McDermid syndrome Phelan-McDermid syndrome OMIM:606232 Gene [OrphaNum:118697 ; Name:SH3 and multiple ankyrin repeat domains 3 ; Symbol:SHANK3 ; xref: GENATLAS:SHANK3 ; xref: HGNC:14294 ; xref: OMIM:606230 ; xref: UNIPROTKB/SWISSPROT:Q9BYB0 ; xref: ENSEMBL:ENSG00000251322] 22q13 deletion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 10630 ICD10:Q93.5 EXACT Phelan-McDermid syndrome EXACT 22q13 deletion Aceruloplasminemia Hereditary ceruloplasmin deficiency Orphanet ID- 10633 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 OMIM:604290 Gene [OrphaNum:120778 ; Name:Ceruloplasmin (ferroxidase) ; Symbol:CP ; xref: GENATLAS:CP ; xref: HGNC:2295 ; xref: OMIM:117700 ; xref: UNIPROTKB/SWISSPROT:P00450 ; xref: ENSEMBL:ENSG00000047457 ; xref: REACTOME:P00450] Hereditary ceruloplasmin deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal recessive; ICD10:G23.0 EXACT Hereditary ceruloplasmin deficiency Dentinogenesis imperfecta prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; OMIM:125500 Orphanet ID- 10638 OMIM:125490 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042 ICD10:K00.5 Achromatopsia Gene [OrphaNum:120678 ; Name:Cyclic nucleotide gated channel beta 3 ; Symbol:CNGB3 ; xref: GENATLAS:CNGB3 ; xref: HGNC:2153 ; xref: OMIM:605080 ; xref: UNIPROTKB/SWISSPROT:Q9NQW8 ; xref: ENSEMBL:ENSG00000170289 ; xref: IUPHAR:399] Gene [OrphaNum:118381 ; Name:Retinitis pigmentosa GTPase regulator ; Symbol:RPGR ; xref: GENATLAS:RPGR ; xref: HGNC:10295 ; xref: OMIM:312610 ; xref: UNIPROTKB/SWISSPROT:Q92834 ; xref: ENSEMBL:ENSG00000156313] OMIM:216900 OMIM:304020 Gene [OrphaNum:120671 ; Name:Cyclic nucleotide gated channel alpha 3 ; Symbol:CNGA3 ; xref: ENSEMBL:ENSG00000144191 ; xref: GENATLAS:CNGA3 ; xref: HGNC:2150 ; xref: OMIM:600053 ; xref: UNIPROTKB/SWISSPROT:Q16281 ; xref: IUPHAR:396] Orphanet ID- 10639 OMIM:613856 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:262300 ICD10:H53.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 Gene [OrphaNum:208333 ; Name:Phosphodiesterase 6C, cGMP-specific, cone, alpha prime ; Symbol:PDE6C ; xref: ENSEMBL:ENSG00000095464 ; xref: GENATLAS:PDE6C ; xref: HGNC:8787 ; xref: OMIM:600827 ; xref: UNIPROTKB/SWISSPROT:P51160] Gene [OrphaNum:122204 ; Name:Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 ; Symbol:GNAT2 ; xref: GENATLAS:GNAT2 ; xref: HGNC:4394 ; xref: OMIM:139340 ; xref: UNIPROTKB/SWISSPROT:P19087 ; xref: REACTOME:P19087 ; xref: ENSEMBL:ENSG00000134183] OMIM:613093 Thiamine-responsive megaloblastic anemia syndrome Rogers syndrome TRMA Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness ICD10:D53.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 Orphanet ID- 10643 Gene [OrphaNum:118762 ; Name:Solute carrier family 19 (thiamine transporter), member 2 ; Symbol:SLC19A2 ; xref: GENATLAS:SLC19A2 ; xref: HGNC:10938 ; xref: OMIM:603941 ; xref: UNIPROTKB/SWISSPROT:O60779 ; xref: ENSEMBL:ENSG00000117479 ; xref: REACTOME:O60779] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Rogers syndrome Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness TRMA OMIM:249270 EXACT Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness EXACT TRMA EXACT Rogers syndrome Talo-patello-scaphoid osteolysis Singh-Williams-McAlister syndrome OMIM:609655 Orphanet ID- 10648 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809 Singh-Williams-McAlister syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Singh-Williams-McAlister syndrome Microlissencephaly - micromelia Basel-Vanagaite-Sirota syndrome ICD10:Q04.3 Basel-Vanagaite-Sirota syndrome Orphanet ID- 10649 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; EXACT Basel-Vanagaite-Sirota syndrome Lipodystrophy - intellectual deficit - deafness Rajab-Spranger syndrome ICD10:Q87.1 Orphanet ID- 10650 OMIM:608154 Rajab-Spranger syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 EXACT Rajab-Spranger syndrome Zellweger-like syndrome without peroxisomal anomalies Ahn-Lerman-Sagie syndrome Ahn-Lerman-Sagie syndrome Orphanet ID- 10651 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Gene [OrphaNum:159556 ; Name:Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase ; Symbol:EHHADH ; xref: GENATLAS:EHHADH ; xref: HGNC:3247 ; xref: OMIM:607037 ; xref: UNIPROTKB/SWISSPROT:Q08426 ; xref: ENSEMBL:ENSG00000113790] EXACT Ahn-Lerman-Sagie syndrome Craniolenticulosutural dysplasia Boyadjiev-Jabs syndrome Gene [OrphaNum:118565 ; Name:Sec23 homolog A (S. cerevisiae) ; Symbol:SEC23A ; xref: GENATLAS:SEC23A ; xref: HGNC:10701 ; xref: OMIM:610511 ; xref: UNIPROTKB/SWISSPROT:Q15436 ; xref: ENSEMBL:ENSG00000100934 ; xref: REACTOME:Q15436] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 OMIM:607812 ICD10:Q75.8 Boyadjiev-Jabs syndrome Orphanet ID- 10653 EXACT Boyadjiev-Jabs syndrome Branchiogenic deafness syndrome Megarbane-Loiselet syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 Megarbane-Loiselet syndrome OMIM:609166 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10654 EXACT Megarbane-Loiselet syndrome Spondylometaphyseal dysplasia with combined immunodeficiency Roifman-Melamed syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50816 ICD10:Q77.8 OMIM:607944 Roifman-Melamed syndrome Orphanet ID- 10655 EXACT Roifman-Melamed syndrome Keratosis palmoplantaris striata OMIM:148700 OMIM:612908 OMIM:607654 Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 Orphanet ID- 10662 Gene [OrphaNum:122887 ; Name:Keratin 1 ; Symbol:KRT1 ; xref: GENATLAS:KRT1 ; xref: HGNC:6412 ; xref: OMIM:139350 ; xref: UNIPROTKB/SWISSPROT:P04264 ; xref: ENSEMBL:ENSG00000167768] Gene [OrphaNum:121189 ; Name:Desmoglein 1 ; Symbol:DSG1 ; xref: GENATLAS:DSG1 ; xref: HGNC:3048 ; xref: OMIM:125670 ; xref: UNIPROTKB/SWISSPROT:Q02413 ; xref: REACTOME:Q02413 ; xref: ENSEMBL:ENSG00000134760] Keratolytic winter erythema OMIM:148370 Orphanet ID- 10663 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 Schopf-Schulz-Passarge syndrome Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis Gene [OrphaNum:123345 ; Name:Wingless-type MMTV integration site family, member 10A ; Symbol:WNT10A ; xref: GENATLAS:WNT10A ; xref: HGNC:13829 ; xref: OMIM:606268 ; xref: UNIPROTKB/SWISSPROT:Q9GZT5 ; xref: REACTOME:Q9GZT5 ; xref: ENSEMBL:ENSG00000135925] OMIM:224750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 10664 Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis EXACT Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis Chondrodysplasia, Blomstrand type BLC Blomstrand's lethal chondrodysplasia Gene [OrphaNum:118140 ; Name:Parathyroid hormone 1 receptor ; Symbol:PTH1R ; xref: OMIM:168468 ; xref: UNIPROTKB/SWISSPROT:Q03431 ; xref: HGNC:9608 ; xref: GENATLAS:PTH1R ; xref: ENSEMBL:ENSG00000160801 ; xref: IUPHAR:331 ; xref: REACTOME:Q03431] Blomstrand's lethal chondrodysplasia ICD10:Q78.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; BLC OMIM:215045 Orphanet ID- 10665 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 EXACT Blomstrand's lethal chondrodysplasia EXACT BLC Familial short QT syndrome SQTS prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; SQTS Orphanet ID- 10670 Gene [OrphaNum:122791 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 2 ; Symbol:KCNJ2 ; xref: GENATLAS:KCNJ2 ; xref: HGNC:6263 ; xref: OMIM:600681 ; xref: UNIPROTKB/SWISSPROT:P63252 ; xref: IUPHAR:430 ; xref: ENSEMBL:ENSG00000123700 ; xref: REACTOME:P63252] Gene [OrphaNum:122777 ; Name:Potassium voltage-gated channel, subfamily H (eag-related), member 2 ; Symbol:KCNH2 ; xref: GENATLAS:KCNH2 ; xref: HGNC:6251 ; xref: OMIM:152427 ; xref: UNIPROTKB/SWISSPROT:Q12809 ; xref: ENSEMBL:ENSG00000055118 ; xref: IUPHAR:572 ; xref: REACTOME:Q12809] OMIM:609622 OMIM:609621 OMIM:609620 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 Gene [OrphaNum:300208 ; Name:Calcium channel, voltage-dependent, alpha 2/delta subunit 1 ; Symbol:CACNA2D1 ; xref: HGNC:1399 ; xref: OMIM:114204 ; xref: GENATLAS:CACNA2D1 ; xref: UNIPROTKB/SWISSPROT:P54289] Gene [OrphaNum:122800 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 1 ; Symbol:KCNQ1 ; xref: GENATLAS:KCNQ1 ; xref: HGNC:6294 ; xref: OMIM:607542 ; xref: UNIPROTKB/SWISSPROT:P51787 ; xref: REACTOME:P51787 ; xref: IUPHAR:560 ; xref: ENSEMBL:ENSG00000053918] EXACT SQTS Torsade-de-pointes syndrome with short coupling interval prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:613600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084 Orphanet ID- 10671 Ethylmalonic encephalopathy Gene [OrphaNum:121629 ; Name:Ethylmalonic encephalopathy 1 ; Symbol:ETHE1 ; xref: GENATLAS:ETHE1 ; xref: HGNC:23287 ; xref: OMIM:608451 ; xref: UNIPROTKB/SWISSPROT:O95571 ; xref: REACTOME:O95571 ; xref: ENSEMBL:ENSG00000105755] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Orphanet ID- 10672 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 OMIM:602473 Formiminoglutamic aciduria FTCD deficiency Formiminotransferase cyclodeaminase deficiency Glutamate formiminotransferase deficiency Formiminotransferase cyclodeaminase deficiency FTCD deficiency ICD10:E70.8 Gene [OrphaNum:121951 ; Name:Formiminotransferase cyclodeaminase ; Symbol:FTCD ; xref: GENATLAS:FTCD ; xref: HGNC:3974 ; xref: OMIM:606806 ; xref: UNIPROTKB/SWISSPROT:O95954 ; xref: ENSEMBL:ENSG00000160282 ; xref: REACTOME:O95954] OMIM:229100 Glutamate formiminotransferase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 Orphanet ID- 10673 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Glutamate formiminotransferase deficiency EXACT Formiminotransferase cyclodeaminase deficiency EXACT FTCD deficiency Lissencephaly type 2 Orphanet ID- 10674 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 Generalized arterial calcification of infancy Idiopathic infantile arterial calcification Idiopathic obliterative arteriopathy Infantile arteriosclerosis Occlusive infantile arteriopathy Orphanet ID- 10675 Infantile arteriosclerosis OMIM:208000 Idiopathic infantile arterial calcification Gene [OrphaNum:121553 ; Name:Ectonucleotide pyrophosphatase/phosphodiesterase 1 ; Symbol:ENPP1 ; xref: GENATLAS:ENPP1 ; xref: HGNC:3356 ; xref: OMIM:173335 ; xref: UNIPROTKB/SWISSPROT:P22413 ; xref: ENSEMBL:ENSG00000197594 ; xref: REACTOME:P22413] OMIM:614473 Idiopathic obliterative arteriopathy Gene [OrphaNum:117658 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ; Symbol:ABCC6 ; xref: GENATLAS:ABCC6 ; xref: HGNC:57 ; xref: OMIM:603234 ; xref: UNIPROTKB/SWISSPROT:O95255 ; xref: REACTOME:O95255 ; xref: ENSEMBL:ENSG00000091262] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51608 Occlusive infantile arteriopathy EXACT Infantile arteriosclerosis EXACT Idiopathic obliterative arteriopathy EXACT Idiopathic infantile arterial calcification EXACT Occlusive infantile arteriopathy WHIM syndrome Warts-hypogammaglobulinemia-infections-myelokathexis prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10676 Warts-hypogammaglobulinemia-infections-myelokathexis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 OMIM:193670 Gene [OrphaNum:120914 ; Name:Chemokine (C-X-C motif) receptor 4 ; Symbol:CXCR4 ; xref: GENATLAS:CXCR4 ; xref: HGNC:2561 ; xref: OMIM:162643 ; xref: UNIPROTKB/SWISSPROT:P61073 ; xref: IUPHAR:71 ; xref: ENSEMBL:ENSG00000121966 ; xref: REACTOME:P61073] ICD10:D81.8 EXACT Warts-hypogammaglobulinemia-infections-myelokathexis Potocki-Shaffer syndrome 11p11.2 deletion Proximal 11p deletion syndrome Gene [OrphaNum:121648 ; Name:Exostoses (multiple) 2 ; Symbol:EXT2 ; xref: GENATLAS:EXT2 ; xref: HGNC:3513 ; xref: OMIM:608210 ; xref: UNIPROTKB/SWISSPROT:Q93063 ; xref: ENSEMBL:ENSG00000151348] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 10684 Proximal 11p deletion syndrome OMIM:601224 11p11.2 deletion Gene [OrphaNum:119647 ; Name:Aristaless-like homeobox 4 ; Symbol:ALX4 ; xref: GENATLAS:ALX4 ; xref: HGNC:450 ; xref: OMIM:605420 ; xref: UNIPROTKB/SWISSPROT:Q9H161 ; xref: ENSEMBL:ENSG00000052850] EXACT Proximal 11p deletion syndrome EXACT 11p11.2 deletion Braddock syndrome Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047 OMIM:608406 Orphanet ID- 10685 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency EXACT Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency Craniosynostosis - intracranial calcifications Longman-Tolmie syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054 Orphanet ID- 10687 Longman-Tolmie syndrome OMIM:608432 EXACT Longman-Tolmie syndrome Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia Graham-Cox syndrome OMIM:300472 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 Gene [OrphaNum:122584 ; Name:Immunoglobulin (CD79A) binding protein 1 ; Symbol:IGBP1 ; xref: GENATLAS:IGBP1 ; xref: HGNC:5461 ; xref: OMIM:300139 ; xref: UNIPROTKB/SWISSPROT:P78318 ; xref: ENSEMBL:ENSG00000089289] Orphanet ID- 10688 Graham-Cox syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; EXACT Graham-Cox syndrome Ulnar/fibula ray defect - brachydactyly Morava-Mehes syndrome Morava-Mehes syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 Orphanet ID- 10689 OMIM:608571 EXACT Morava-Mehes syndrome Premature chromosome condensation with microcephaly and intellectual deficit Gene [OrphaNum:123183 ; Name:Microcephaly, primary autosomal recessive 1 ; Symbol:MCPH1 ; xref: GENATLAS:MCPH1 ; xref: HGNC:6954 ; xref: OMIM:607117 ; xref: UNIPROTKB/SWISSPROT:Q8NEM0 ; xref: ENSEMBL:ENSG00000147316] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52183 Orphanet ID- 10690 OMIM:251200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mohr-Tranebjaerg syndrome DDON syndrome Deafness - dystonia - optic neuronopathy syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 DDON syndrome Deafness - dystonia - optic neuronopathy syndrome Gene [OrphaNum:120107 ; Name:Translocase of inner mitochondrial membrane 8 homolog A (yeast) ; Symbol:TIMM8A ; xref: GENATLAS:TIMM8A ; xref: HGNC:11817 ; xref: OMIM:300356 ; xref: UNIPROTKB/SWISSPROT:O60220 ; xref: REACTOME:O60220 ; xref: ENSEMBL:ENSG00000126953] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 10691 OMIM:304700 EXACT DDON syndrome EXACT Deafness - dystonia - optic neuronopathy syndrome Retinitis punctata albescens Gene [OrphaNum:118315 ; Name:Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) ; Symbol:RHO ; xref: GENATLAS:RHO ; xref: HGNC:10012 ; xref: OMIM:180380 ; xref: UNIPROTKB/SWISSPROT:P08100 ; xref: REACTOME:P08100 ; xref: ENSEMBL:ENSG00000163914] prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 Gene [OrphaNum:118253 ; Name:Retinol dehydrogenase 5 (11-cis/9-cis) ; Symbol:RDH5 ; xref: GENATLAS:RDH5 ; xref: HGNC:9940 ; xref: OMIM:601617 ; xref: UNIPROTKB/SWISSPROT:Q92781 ; xref: ENSEMBL:ENSG00000135437] OMIM:136880 Orphanet ID- 10695 Gene [OrphaNum:118326 ; Name:Retinaldehyde binding protein 1 ; Symbol:RLBP1 ; xref: GENATLAS:RLBP1 ; xref: HGNC:10024 ; xref: OMIM:180090 ; xref: UNIPROTKB/SWISSPROT:P12271 ; xref: ENSEMBL:ENSG00000140522] Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619] Congenital muscular dystrophy type 1C OMIM:606612 ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52428 Orphanet ID- 10696 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:121835 ; Name:Fukutin related protein ; Symbol:FKRP ; xref: GENATLAS:FKRP ; xref: HGNC:17997 ; xref: OMIM:606596 ; xref: UNIPROTKB/SWISSPROT:Q9H9S5 ; xref: ENSEMBL:ENSG00000181027] Branchio-otic syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:120502 ICD10:Q87.0 OMIM:608389 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 Orphanet ID- 10697 Gene [OrphaNum:121651 ; Name:Eyes absent homolog 1 (Drosophila) ; Symbol:EYA1 ; xref: GENATLAS:EYA1 ; xref: HGNC:3519 ; xref: OMIM:601653 ; xref: UNIPROTKB/SWISSPROT:Q99502 ; xref: ENSEMBL:ENSG00000104313] OMIM:602588 Gene [OrphaNum:118723 ; Name:SIX homeobox 1 ; Symbol:SIX1 ; xref: GENATLAS:SIX1 ; xref: HGNC:10887 ; xref: OMIM:601205 ; xref: UNIPROTKB/SWISSPROT:Q15475 ; xref: ENSEMBL:ENSG00000126778] Inclusion body myopathy with Paget disease of bone and frontotemporal dementia IBMPFD Limb-girdle muscular dystrophy with Paget disease of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome VCP disease VCP myopathy Valosin-containing protein disease Valosin-containing-protein myopathy Pagetoid amyotrophic lateral sclerosis ICD10:G71.8 VCP disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 Valosin-containing-protein myopathy Valosin-containing protein disease IBMPFD Pagetoid neuroskeletal syndrome Limb-girdle muscular dystrophy with Paget disease of bone Orphanet ID- 10698 OMIM:167320 Gene [OrphaNum:120461 ; Name:Valosin-containing protein ; Symbol:VCP ; xref: GENATLAS:VCP ; xref: HGNC:12666 ; xref: OMIM:601023 ; xref: UNIPROTKB/SWISSPROT:P55072 ; xref: ENSEMBL:ENSG00000165280] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; VCP myopathy EXACT VCP disease EXACT Valosin-containing-protein myopathy EXACT Pagetoid neuroskeletal syndrome EXACT Valosin-containing protein disease EXACT IBMPFD EXACT Pagetoid amyotrophic lateral sclerosis EXACT Limb-girdle muscular dystrophy with Paget disease of bone EXACT VCP myopathy X-linked creatine transporter deficiency X-linked intellectual deficit - seizures - short stature - midface hypoplasia Gene [OrphaNum:119705 ; Name:Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 ; Symbol:SLC6A8 ; xref: GENATLAS:SLC6A8 ; xref: HGNC:11055 ; xref: OMIM:300036 ; xref: UNIPROTKB/SWISSPROT:P48029 ; xref: REACTOME:P48029 ; xref: ENSEMBL:ENSG00000130821] Orphanet ID- 10699 OMIM:300352 ICD10:E72.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 X-linked intellectual deficit - seizures - short stature - midface hypoplasia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT X-linked intellectual deficit - seizures - short stature - midface hypoplasia Heart defects - limb shortening Orphanet ID- 1070 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 ICD10:Q87.2 OMIM:212135 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Pseudo-Von Willebrand disease Pseudo-Von Willebrand disease type 2B Von Willebrand disease, platelet type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Von Willebrand disease, platelet type Pseudo-Von Willebrand disease type 2B OMIM:177820 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 ICD10:D69.8 Orphanet ID- 10700 Gene [OrphaNum:122237 ; Name:Glycoprotein Ib (platelet), alpha polypeptide ; Symbol:GP1BA ; xref: GENATLAS:GP1BA ; xref: HGNC:4439 ; xref: OMIM:606672 ; xref: UNIPROTKB/SWISSPROT:P07359 ; xref: ENSEMBL:ENSG00000185245 ; xref: REACTOME:P07359] EXACT Von Willebrand disease, platelet type EXACT Pseudo-Von Willebrand disease type 2B Isolated follicle stimulating hormone deficiency Isolated FSH deficiency Isolated FSH deficiency OMIM:229070 Gene [OrphaNum:121941 ; Name:Follicle stimulating hormone, beta polypeptide ; Symbol:FSHB ; xref: GENATLAS:FSHB ; xref: HGNC:3964 ; xref: OMIM:136530 ; xref: UNIPROTKB/SWISSPROT:P01225 ; xref: ENSEMBL:ENSG00000131808 ; xref: REACTOME:P01225] ICD10:E23.6 Orphanet ID- 10706 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Isolated FSH deficiency Carey-Fineman-Ziter syndrome Myopathy - Moebius - Robin syndrome OMIM:254940 Myopathy - Moebius - Robin syndrome Orphanet ID- 1071 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Myopathy - Moebius - Robin syndrome Caroli disease ICD10:Q44.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 Orphanet ID- 10715 OMIM:600643 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Muenke syndrome Orphanet ID- 10716 Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] OMIM:602849 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 Familial cutaneous collagenoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10718 OMIM:115250 Brody myopathy Orphanet ID- 10719 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 Gene [OrphaNum:118840 ; Name:ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 ; Symbol:ATP2A1 ; xref: GENATLAS:ATP2A1 ; xref: HGNC:811 ; xref: OMIM:108730 ; xref: UNIPROTKB/SWISSPROT:O14983 ; xref: ENSEMBL:ENSG00000196296 ; xref: REACTOME:O14983] OMIM:601003 ICD10:G71.8 X-linked dystonia-parkinsonism DYT3 Lubag Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 DYT3 Lubag ICD10:G24.1 Orphanet ID- 10720 OMIM:314250 Gene [OrphaNum:139199 ; Name:TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa ; Symbol:TAF1 ; xref: GENATLAS:TAF1 ; xref: HGNC:11535 ; xref: OMIM:313650 ; xref: UNIPROTKB/SWISSPROT:P21675 ; xref: ENSEMBL:ENSG00000147133 ; xref: REACTOME:P21675] prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Lubag EXACT DYT3 Hereditary geniospasm Familial trembling of the chin Hereditary chin myoclonus Hereditary chin-trembling Hereditary chin myoclonus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372 OMIM:190100 Familial trembling of the chin ICD10:G25.3 Hereditary chin-trembling prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10721 EXACT Hereditary chin myoclonus EXACT Hereditary chin-trembling EXACT Familial trembling of the chin Goldmann-Favre syndrome Enhanced S-cone syndrome Retinoschisis with early nyctalopia Gene [OrphaNum:123912 ; Name:Nuclear receptor subfamily 2, group E, member 3 ; Symbol:NR2E3 ; xref: REACTOME:Q9Y5X4 ; xref: GENATLAS:NR2E3 ; xref: HGNC:7974 ; xref: OMIM:604485 ; xref: UNIPROTKB/SWISSPROT:Q9Y5X4 ; xref: IUPHAR:616 ; xref: ENSEMBL:ENSG00000031544] OMIM:268100 Orphanet ID- 10723 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 Enhanced S-cone syndrome Retinoschisis with early nyctalopia prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; EXACT Retinoschisis with early nyctalopia EXACT Enhanced S-cone syndrome Episodic choreoathetosis/spasticity DYT9 Orphanet ID- 10724 OMIM:601042 ICD10:G24.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; DYT9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 Gene [OrphaNum:158410 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 1 ; Symbol:SLC2A1 ; xref: UNIPROTKB/SWISSPROT:P11166 ; xref: REACTOME:P11166 ; xref: GENATLAS:SLC2A1 ; xref: HGNC:11005 ; xref: OMIM:138140 ; xref: ENSEMBL:ENSG00000117394] EXACT DYT9 Progressive familial intrahepatic cholestasis PFIC Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 ICD10:K83.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1073 PFIC EXACT PFIC Congenital chloride diarrhea Gene [OrphaNum:118817 ; Name:Solute carrier family 26, member 3 ; Symbol:SLC26A3 ; xref: GENATLAS:SLC26A3 ; xref: HGNC:3018 ; xref: OMIM:126650 ; xref: UNIPROTKB/SWISSPROT:P40879 ; xref: ENSEMBL:ENSG00000091138 ; xref: REACTOME:P40879] OMIM:214700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 Orphanet ID- 10734 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital lactase deficiency Orphanet ID- 10735 Gene [OrphaNum:123008 ; Name:Lactase ; Symbol:LCT ; xref: GENATLAS:LCT ; xref: HGNC:6530 ; xref: OMIM:603202 ; xref: UNIPROTKB/SWISSPROT:P09848 ; xref: ENSEMBL:ENSG00000115850 ; xref: REACTOME:P09848] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 OMIM:223000 ICD10:E73.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital cornea plana Orphanet ID- 10736 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 Gene [OrphaNum:122825 ; Name:Keratocan ; Symbol:KERA ; xref: GENATLAS:KERA ; xref: HGNC:6309 ; xref: OMIM:603288 ; xref: UNIPROTKB/SWISSPROT:O60938 ; xref: ENSEMBL:ENSG00000139330] OMIM:121400 OMIM:217300 ICD10:Q13.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; GRACILE syndrome Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death Gene [OrphaNum:119021 ; Name:BCS1-like ; Symbol:BCS1L ; xref: GENATLAS:BCS1L ; xref: HGNC:1020 ; xref: OMIM:603647 ; xref: UNIPROTKB/SWISSPROT:Q9Y276 ; xref: ENSEMBL:ENSG00000074582 ; xref: REACTOME:Q9Y276] Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death Orphanet ID- 10737 OMIM:603358 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 EXACT Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death Lethal arthrogryposis - anterior horn cell disease LAAHD Vuopala disease Gene [OrphaNum:160257 ; Name:GLE1 RNA export mediator homolog ; Symbol:GLE1 ; xref: ENSEMBL:ENSG00000119392 ; xref: GENATLAS:GLE1 ; xref: HGNC:4315 ; xref: OMIM:603371 ; xref: UNIPROTKB/SWISSPROT:Q53GS7] Vuopala disease LAAHD OMIM:611890 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10738 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696 EXACT Vuopala disease EXACT LAAHD Gnathodiaphyseal dysplasia GDD prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; GDD Orphanet ID- 10739 Gene [OrphaNum:120137 ; Name:Anoctamin 5 ; Symbol:ANO5 ; xref: HGNC:27337 ; xref: OMIM:608662 ; xref: GENATLAS:ANO5 ; xref: UNIPROTKB/SWISSPROT:Q75V66 ; xref: ENSEMBL:ENSG00000171714] OMIM:608662 OMIM:166260 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 EXACT GDD Hyaline body myopathy ICD10:G71.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123621 ; Name:Myosin, heavy chain 7, cardiac muscle, beta ; Symbol:MYH7 ; xref: ENSEMBL:ENSG00000092054 ; xref: GENATLAS:MYH7 ; xref: HGNC:7577 ; xref: OMIM:160760 ; xref: UNIPROTKB/SWISSPROT:P12883] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698 OMIM:255160 OMIM:608358 Orphanet ID- 10740 Tumoral calcinosis Gene [OrphaNum:121800 ; Name:Fibroblast growth factor 23 ; Symbol:FGF23 ; xref: GENATLAS:FGF23 ; xref: HGNC:3680 ; xref: OMIM:605380 ; xref: UNIPROTKB/SWISSPROT:Q9GZV9 ; xref: REACTOME:Q9GZV9 ; xref: ENSEMBL:ENSG00000118972] Gene [OrphaNum:118460 ; Name:Sterile alpha motif domain containing 9 ; Symbol:SAMD9 ; xref: GENATLAS:SAMD9 ; xref: HGNC:1348 ; xref: OMIM:610456 ; xref: UNIPROTKB/SWISSPROT:Q5K651 ; xref: ENSEMBL:ENSG00000205413] OMIM:211900 Orphanet ID- 10741 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 Gene [OrphaNum:179419 ; Name:Klotho ; Symbol:KL ; xref: GENATLAS:KL ; xref: HGNC:6344 ; xref: OMIM:604824 ; xref: UNIPROTKB/SWISSPROT:Q9UEF7 ; xref: REACTOME:Q9UEF7 ; xref: ENSEMBL:ENSG00000133116] ICD10:M11.2 Gene [OrphaNum:122006 ; Name:UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) ; Symbol:GALNT3 ; xref: GENATLAS:GALNT3 ; xref: HGNC:4125 ; xref: OMIM:601756 ; xref: UNIPROTKB/SWISSPROT:Q14435 ; xref: REACTOME:Q14435 ; xref: ENSEMBL:ENSG00000115339] OMIM:610455 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Wyburn-Mason syndrome Bonnet-Dechaume-Blanc syndrome CAMS 2 Cerebrofacial arteriovenous metameric syndrome type 2 Cerebrofacial arteriovenous metameric syndrome type 2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Bonnet-Dechaume-Blanc syndrome ICD10:Q27.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719 Orphanet ID- 10742 CAMS 2 EXACT CAMS 2 EXACT Bonnet-Dechaume-Blanc syndrome EXACT Cerebrofacial arteriovenous metameric syndrome type 2 Cobb syndrome Cutaneomeningospinal angiomatosis SAMS 1-31 Spinal arteriovenous metameric syndrome Spinal arteriovenous metameric syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; SAMS 1-31 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 Orphanet ID- 10743 ICD10:Q27.3 Cutaneomeningospinal angiomatosis EXACT Spinal arteriovenous metameric syndrome EXACT Cutaneomeningospinal angiomatosis EXACT SAMS 1-31 Distal hereditary motor neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10744 ICD10:G12.2 Posterior cortical atrophy Benson's syndrome PCA prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown; PCA Benson's syndrome Orphanet ID- 10748 ICD10:G31.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 EXACT Benson's syndrome EXACT PCA Ring chromosome 1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437 Orphanet ID- 1075 ICD10:Q93.2 Left ventricular noncompaction Left ventricular hypertrabeculation Spongy myocardium ICD10:I42.8 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive; OMIM:613424 OMIM:613426 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 Spongy myocardium Left ventricular hypertrabeculation Gene [OrphaNum:119930 ; Name:Tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ; Symbol:TAZ ; xref: GENATLAS:TAZ ; xref: HGNC:11577 ; xref: OMIM:300394 ; xref: UNIPROTKB/SWISSPROT:Q16635 ; xref: ENSEMBL:ENSG00000102125 ; xref: REACTOME:Q16635] Gene [OrphaNum:123621 ; Name:Myosin, heavy chain 7, cardiac muscle, beta ; Symbol:MYH7 ; xref: ENSEMBL:ENSG00000092054 ; xref: GENATLAS:MYH7 ; xref: HGNC:7577 ; xref: OMIM:160760 ; xref: UNIPROTKB/SWISSPROT:P12883] Gene [OrphaNum:121219 ; Name:Dystrobrevin, alpha ; Symbol:DTNA ; xref: GENATLAS:DTNA ; xref: HGNC:3057 ; xref: OMIM:601239 ; xref: UNIPROTKB/SWISSPROT:Q9Y4J8 ; xref: ENSEMBL:ENSG00000134769] Gene [OrphaNum:120220 ; Name:Tropomyosin 1 (alpha) ; Symbol:TPM1 ; xref: GENATLAS:TPM1 ; xref: HGNC:12010 ; xref: OMIM:191010 ; xref: UNIPROTKB/SWISSPROT:P09493 ; xref: REACTOME:P09493 ; xref: ENSEMBL:ENSG00000140416] Gene [OrphaNum:117753 ; Name:Actin, alpha, cardiac muscle 1 ; Symbol:ACTC1 ; xref: GENATLAS:ACTC1 ; xref: HGNC:143 ; xref: OMIM:102540 ; xref: UNIPROTKB/SWISSPROT:P68032 ; xref: ENSEMBL:ENSG00000159251 ; xref: REACTOME:P68032] Gene [OrphaNum:123010 ; Name:LIM domain binding 3 ; Symbol:LDB3 ; xref: GENATLAS:LDB3 ; xref: HGNC:15710 ; xref: OMIM:605906 ; xref: UNIPROTKB/SWISSPROT:O75112 ; xref: ENSEMBL:ENSG00000122367] Gene [OrphaNum:123595 ; Name:Myosin binding protein C, cardiac ; Symbol:MYBPC3 ; xref: GENATLAS:MYBPC3 ; xref: HGNC:7551 ; xref: OMIM:600958 ; xref: UNIPROTKB/SWISSPROT:Q14896 ; xref: ENSEMBL:ENSG00000134571 ; xref: REACTOME:Q14896] OMIM:609470 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] OMIM:601494 Orphanet ID- 10750 OMIM:604169 Gene [OrphaNum:120190 ; Name:Troponin T type 2 (cardiac) ; Symbol:TNNT2 ; xref: GENATLAS:TNNT2 ; xref: HGNC:11949 ; xref: OMIM:191045 ; xref: UNIPROTKB/SWISSPROT:P45379 ; xref: ENSEMBL:ENSG00000118194 ; xref: REACTOME:P45379] EXACT Spongy myocardium EXACT Left ventricular hypertrabeculation Membranoproliferative glomerulonephritis Mesangiocapillary glomerulonephritis prevalence- 1-5 / 10 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:305800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370 Orphanet ID- 10755 Gene [OrphaNum:119363 ; Name:Complement factor H ; Symbol:CFH ; xref: GENATLAS:CFH ; xref: HGNC:4883 ; xref: OMIM:134370 ; xref: UNIPROTKB/SWISSPROT:P08603 ; xref: REACTOME:P08603 ; xref: ENSEMBL:ENSG00000000971] Mesangiocapillary glomerulonephritis EXACT Mesangiocapillary glomerulonephritis Craniopharyngioma prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; ICD10:D44.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 Orphanet ID- 10756 Autosomal dominant limb-girdle muscular dystrophy type 1F LGMD1F prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:G71.0 LGMD1F Orphanet ID- 10758 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 OMIM:608423 EXACT LGMD1F Autosomal dominant limb-girdle muscular dystrophy type 1G LGMD1G prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; LGMD1G Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 Orphanet ID- 10759 ICD10:G71.0 OMIM:609115 EXACT LGMD1G Ring chromosome 10 ICD10:Q93.2 Orphanet ID- 1076 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 Hypotrichosis simplex Hereditary hypotrichosis simplex OMIM:605389 Gene [OrphaNum:229796 ; Name:Adenomatosis polyposis coli down-regulated 1 ; Symbol:APCDD1 ; xref: ENSEMBL:ENSG00000154856 ; xref: HGNC:15718 ; xref: GENATLAS:APCDD1 ; xref: UNIPROTKB/SWISSPROT:Q8J025 ; xref: OMIM:607479] Gene [OrphaNum:159333 ; Name:Lipase, member H ; Symbol:LIPH ; xref: GENATLAS:LIPH ; xref: HGNC:18483 ; xref: OMIM:607365 ; xref: UNIPROTKB/SWISSPROT:Q8WWY8 ; xref: ENSEMBL:ENSG00000163898] Hereditary hypotrichosis simplex OMIM:614238 OMIM:614237 OMIM:607903 Gene [OrphaNum:285488 ; Name:Ribosomal protein L21 ; Symbol:RPL21 ; xref: ENSEMBL:ENSG00000122026 ; xref: REACTOME:P46778 ; xref: GENATLAS:RPL21 ; xref: HGNC:10313 ; xref: UNIPROTKB/SWISSPROT:P46778 ; xref: OMIM:603636] Gene [OrphaNum:159421 ; Name:Desmoglein 4 ; Symbol:DSG4 ; xref: GENATLAS:DSG4 ; xref: HGNC:21307 ; xref: OMIM:607892 ; xref: UNIPROTKB/SWISSPROT:Q86SJ6 ; xref: ENSEMBL:ENSG00000175065] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:278150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 OMIM:604379 Orphanet ID- 10760 Gene [OrphaNum:159166 ; Name:Lysophosphatidic acid receptor 6 ; Symbol:LPAR6 ; xref: GENATLAS:P2RY5 ; xref: HGNC:15520 ; xref: OMIM:609239 ; xref: UNIPROTKB/SWISSPROT:P43657 ; xref: ENSEMBL:ENSG00000139679 ; xref: REACTOME:P43657 ; xref: IUPHAR:163] EXACT Hereditary hypotrichosis simplex Adamantinoma OMIM:102660 Orphanet ID- 10763 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55881 Atelosteogenesis type II De la Chapelle dysplasia Neonatal osseous dysplasia type 1 De la Chapelle dysplasia OMIM:256050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Neonatal osseous dysplasia type 1 Orphanet ID- 10766 Gene [OrphaNum:118813 ; Name:Solute carrier family 26 (sulfate transporter), member 2 ; Symbol:SLC26A2 ; xref: GENATLAS:SLC26A2 ; xref: HGNC:10994 ; xref: OMIM:606718 ; xref: UNIPROTKB/SWISSPROT:P50443 ; xref: ENSEMBL:ENSG00000155850 ; xref: REACTOME:P50443] ICD10:Q77.5 EXACT Neonatal osseous dysplasia type 1 EXACT De la Chapelle dysplasia Atelosteogenesis type III Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 Gene [OrphaNum:121860 ; Name:Filamin B, beta (actin binding protein 278) ; Symbol:FLNB ; xref: GENATLAS:FLNB ; xref: HGNC:3755 ; xref: OMIM:603381 ; xref: UNIPROTKB/SWISSPROT:O75369 ; xref: ENSEMBL:ENSG00000136068 ; xref: REACTOME:O75369] OMIM:108721 Orphanet ID- 10767 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant; ICD10:Q78.8 Progressive bulbar paralysis of childhood Fazio-Londe disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56965 OMIM:211500 ICD10:G12.1 Orphanet ID- 10769 Fazio-Londe disease prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:227053 ; Name:Solute carrier family 52, riboflavin transporter, member 3 ; Symbol:SLC52A3 ; xref: ENSEMBL:ENSG00000101276 ; xref: HGNC:16187 ; xref: GENATLAS:C20orf54 ; xref: OMIM:613350 ; xref: UNIPROTKB/SWISSPROT:Q9NQ40] EXACT Fazio-Londe disease Ring chromosome 12 ICD10:Q93.2 Orphanet ID- 1077 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Condensing osteitis of the medial clavicle prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57196 ICD10:Q74.0 Orphanet ID- 10774 Mazabraud syndrome Myxoma with fibrous dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782 Orphanet ID- 10777 ICD10:D21.9 Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] Myxoma with fibrous dysplasia ICD10:M85.0 EXACT Myxoma with fibrous dysplasia Ring chromosome 20 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444 ICD10:Q93.2 Orphanet ID- 1078 Laing distal myopathy Distal myopathy type 1 Laing early-onset distal myopathy MPD1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 Laing early-onset distal myopathy MPD1 Gene [OrphaNum:123621 ; Name:Myosin, heavy chain 7, cardiac muscle, beta ; Symbol:MYH7 ; xref: ENSEMBL:ENSG00000092054 ; xref: GENATLAS:MYH7 ; xref: HGNC:7577 ; xref: OMIM:160760 ; xref: UNIPROTKB/SWISSPROT:P12883] ICD10:G71.0 Orphanet ID- 10782 OMIM:160500 Distal myopathy type 1 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Distal myopathy type 1 EXACT Laing early-onset distal myopathy EXACT MPD1 Sorsby's fundus dystrophy OMIM:136900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 OMIM:264420 Orphanet ID- 10783 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120112 ; Name:TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory) ; Symbol:TIMP3 ; xref: GENATLAS:TIMP3 ; xref: HGNC:11822 ; xref: OMIM:188826 ; xref: UNIPROTKB/SWISSPROT:P35625 ; xref: ENSEMBL:ENSG00000100234] Ichthyosis - hypotrichosis - sclerosing cholangitis IHSC NISCH syndrome OMIM:607626 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 NISCH syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10788 Gene [OrphaNum:119470 ; Name:Claudin 1 ; Symbol:CLDN1 ; xref: GENATLAS:CLDN1 ; xref: HGNC:2032 ; xref: OMIM:603718 ; xref: UNIPROTKB/SWISSPROT:O95832 ; xref: REACTOME:O95832 ; xref: ENSEMBL:ENSG00000163347] IHSC EXACT IHSC EXACT NISCH syndrome Ring chromosome 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447 ICD10:Q93.2 Orphanet ID- 1079 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gestational trophoblastic neoplasm GTN GTN prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59305 Orphanet ID- 10790 EXACT GTN McLeod neuroacanthocytosis syndrome X-linked McLeod syndrome Orphanet ID- 10791 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 OMIM:300842 Gene [OrphaNum:120562 ; Name:X-linked Kx blood group (McLeod syndrome) ; Symbol:XK ; xref: ENSEMBL:ENSG00000047597 ; xref: GENATLAS:XK ; xref: HGNC:12811 ; xref: OMIM:314850 ; xref: UNIPROTKB/SWISSPROT:P51811] X-linked McLeod syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT X-linked McLeod syndrome Parietal foramina Catlin marks Enlarged parietal foramina Foramina parietalia permagna Hereditary cranium bifidum Gene [OrphaNum:123500 ; Name:Msh homeobox 2 ; Symbol:MSX2 ; xref: GENATLAS:MSX2 ; xref: HGNC:7392 ; xref: OMIM:123101 ; xref: UNIPROTKB/SWISSPROT:P35548 ; xref: ENSEMBL:ENSG00000120149] OMIM:168500 Catlin marks Gene [OrphaNum:119647 ; Name:Aristaless-like homeobox 4 ; Symbol:ALX4 ; xref: GENATLAS:ALX4 ; xref: HGNC:450 ; xref: OMIM:605420 ; xref: UNIPROTKB/SWISSPROT:Q9H161 ; xref: ENSEMBL:ENSG00000052850] Hereditary cranium bifidum OMIM:609566 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10796 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 Enlarged parietal foramina ICD10:Q75.8 OMIM:609597 Foramina parietalia permagna EXACT Hereditary cranium bifidum EXACT Catlin marks EXACT Foramina parietalia permagna EXACT Enlarged parietal foramina Pulmonary alveolar microlithiasis prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Orphanet ID- 10797 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025 Gene [OrphaNum:118831 ; Name:Solute carrier family 34 (sodium phosphate), member 2 ; Symbol:SLC34A2 ; xref: GENATLAS:SLC34A2 ; xref: HGNC:11020 ; xref: OMIM:604217 ; xref: UNIPROTKB/SWISSPROT:O95436 ; xref: ENSEMBL:ENSG00000157765 ; xref: REACTOME:O95436] OMIM:265100 Loeys-Dietz syndrome type 1 Aortic aneurysm syndrome due to TGFbêta receptors anomalies ICD10:I71.0 OMIM:609192 Gene [OrphaNum:120069 ; Name:Transforming growth factor, beta receptor II (70/80kDa) ; Symbol:TGFBR2 ; xref: GENATLAS:TGFBR2 ; xref: HGNC:11773 ; xref: OMIM:190182 ; xref: UNIPROTKB/SWISSPROT:P37173 ; xref: ENSEMBL:ENSG00000163513 ; xref: REACTOME:P37173] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 Aortic aneurysm syndrome due to TGFbêta receptors anomalies prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 10799 Gene [OrphaNum:120065 ; Name:Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ; Symbol:TGFBR1 ; xref: GENATLAS:TGFBR1 ; xref: HGNC:11772 ; xref: OMIM:190181 ; xref: UNIPROTKB/SWISSPROT:P36897 ; xref: REACTOME:P36897 ; xref: ENSEMBL:ENSG00000106799] OMIM:610168 EXACT Aortic aneurysm syndrome due to TGFbêta receptors anomalies Ring chromosome 6 Orphanet ID- 1080 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448 ICD10:Q93.2 Macrocephaly - capillary malformation M-CM M-CMTC Macrocephaly - cutis marmorata telangiectatica congenita Megalencephaly - cutis marmorata telangiectatica congenita M-CM prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:602501 Orphanet ID- 10805 M-CMTC Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 Megalencephaly - cutis marmorata telangiectatica congenita Macrocephaly - cutis marmorata telangiectatica congenita EXACT M-CMTC EXACT Megalencephaly - cutis marmorata telangiectatica congenita EXACT M-CM EXACT Macrocephaly - cutis marmorata telangiectatica congenita Congenital heart block Congenital atrioventricular block Orphanet ID- 10806 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041 Congenital atrioventricular block OMIM:234700 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Congenital atrioventricular block Ring chromosome 8 ICD10:Q93.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450 Orphanet ID- 1081 Iniencephaly ICD10:Q00.2 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259 Orphanet ID- 10816 Craniorachischisis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 Orphanet ID- 10817 ICD10:Q00.1 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; HERNS syndrome Hereditary endotheliopathy - retinopathy - nephropathy - stroke Gene [OrphaNum:120255 ; Name:Three prime repair exonuclease 1 ; Symbol:TREX1 ; xref: GENATLAS:TREX1 ; xref: HGNC:12269 ; xref: OMIM:606609 ; xref: UNIPROTKB/SWISSPROT:Q9NSU2 ; xref: ENSEMBL:ENSG00000213689] OMIM:192315 ICD10:I67.3 Hereditary endotheliopathy - retinopathy - nephropathy - stroke Orphanet ID- 10818 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63261 EXACT Hereditary endotheliopathy - retinopathy - nephropathy - stroke Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Antley-Bixler syndrome type 2 Antley-Bixler syndrome, POR-related Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis OMIM:201750 Gene [OrphaNum:117944 ; Name:P450 (cytochrome) oxidoreductase ; Symbol:POR ; xref: GENATLAS:POR ; xref: HGNC:9208 ; xref: OMIM:124015 ; xref: UNIPROTKB/SWISSPROT:P16435 ; xref: ENSEMBL:ENSG00000127948] Antley-Bixler syndrome type 2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis Antley-Bixler syndrome, POR-related Orphanet ID- 10819 EXACT Antley-Bixler syndrome, POR-related EXACT Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis EXACT Antley-Bixler syndrome type 2 Currarino triad Currarino syndrome OMIM:176450 ICD10:Q42 Currarino syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:600145 Gene [OrphaNum:138820 ; Name:Motor neuron and pancreas homeobox 1 ; Symbol:MNX1 ; xref: GENATLAS:MNX1 ; xref: HGNC:4979 ; xref: OMIM:142994 ; xref: UNIPROTKB/SWISSPROT:P50219 ; xref: ENSEMBL:ENSG00000130675] Orphanet ID- 1082 EXACT Currarino syndrome Distal myopathy with posterior leg and anterior hand involvement Distal ABD-filaminopathy prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:614065 Gene [OrphaNum:121867 ; Name:Filamin C, gamma (actin binding protein 280) ; Symbol:FLNC ; xref: GENATLAS:FLNC ; xref: HGNC:3756 ; xref: OMIM:102565 ; xref: UNIPROTKB/SWISSPROT:Q14315 ; xref: ENSEMBL:ENSG00000128591 ; xref: REACTOME:Q14315] Orphanet ID- 10820 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 ICD10:G71.0 Distal ABD-filaminopathy EXACT Distal ABD-filaminopathy Isolated oxycephaly Nonsyndromic oxycephaly Turricephaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63440 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Turricephaly OMIM:123100 ICD10:Q75.0 Nonsyndromic oxycephaly Orphanet ID- 10822 EXACT Nonsyndromic oxycephaly EXACT Turricephaly Angel-shaped phalango-epiphyseal dysplasia ASPED Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 ICD10:Q78.8 ASPED prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10823 OMIM:105835 EXACT ASPED Acrocapitofemoral dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 ICD10:Q78.8 OMIM:607778 Gene [OrphaNum:122605 ; Name:Indian hedgehog homolog (Drosophila) ; Symbol:IHH ; xref: ENSEMBL:ENSG00000163501 ; xref: REACTOME:Q14623 ; xref: GENATLAS:IHH ; xref: HGNC:5956 ; xref: OMIM:600726 ; xref: UNIPROTKB/SWISSPROT:Q14623] Orphanet ID- 10825 Patterned dystrophy of the retinal pigment epithelium Orphanet ID- 10826 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454 Childhood absence epilepsy Pyknolepsy OMIM:611136 Gene [OrphaNum:168319 ; Name:Jerky homolog (mouse) ; Symbol:JRK ; xref: ENSEMBL:ENSG00000234616 ; xref: GENATLAS:JRK ; xref: HGNC:6199 ; xref: OMIM:603210 ; xref: UNIPROTKB/SWISSPROT:O75564] Orphanet ID- 10832 Gene [OrphaNum:121989 ; Name:Gamma-aminobutyric acid (GABA) A receptor, alpha 1 ; Symbol:GABRA1 ; xref: GENATLAS:GABRA1 ; xref: HGNC:4075 ; xref: OMIM:137160 ; xref: UNIPROTKB/SWISSPROT:P14867 ; xref: IUPHAR:404 ; xref: ENSEMBL:ENSG00000022355 ; xref: REACTOME:P14867] Gene [OrphaNum:121993 ; Name:Gamma-aminobutyric acid (GABA) A receptor, gamma 2 ; Symbol:GABRG2 ; xref: GENATLAS:GABRG2 ; xref: HGNC:4087 ; xref: OMIM:137164 ; xref: UNIPROTKB/SWISSPROT:P18507 ; xref: REACTOME:P18507 ; xref: IUPHAR:414 ; xref: ENSEMBL:ENSG00000113327] Gene [OrphaNum:286549 ; Name:Calcium channel, voltage-dependent, T type, alpha 1H subunit ; Symbol:CACNA1H ; xref: REACTOME:O95180 ; xref: HGNC:1395 ; xref: OMIM:607904 ; xref: GENATLAS:CACNA1H ; xref: UNIPROTKB/SWISSPROT:O95180 ; xref: ENSEMBL:ENSG00000196557] OMIM:612269 Pyknolepsy OMIM:611942 OMIM:607682 OMIM:607681 OMIM:600131 Gene [OrphaNum:159621 ; Name:Gamma-aminobutyric acid (GABA) A receptor, beta 3 ; Symbol:GABRB3 ; xref: GENATLAS:GABRB3 ; xref: HGNC:4083 ; xref: OMIM:137192 ; xref: UNIPROTKB/SWISSPROT:P28472 ; xref: IUPHAR:412 ; xref: ENSEMBL:ENSG00000166206 ; xref: REACTOME:P28472] Gene [OrphaNum:158410 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 1 ; Symbol:SLC2A1 ; xref: UNIPROTKB/SWISSPROT:P11166 ; xref: REACTOME:P11166 ; xref: GENATLAS:SLC2A1 ; xref: HGNC:11005 ; xref: OMIM:138140 ; xref: ENSEMBL:ENSG00000117394] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 EXACT Pyknolepsy Autosomal recessive acrofacial dysostosis Acrofacial dysostosis, Kennedy-Teebi type Kennedy-Teebi syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Acrofacial dysostosis, Kennedy-Teebi type ICD10:Q75.4 Kennedy-Teebi syndrome Orphanet ID- 10833 EXACT Acrofacial dysostosis, Kennedy-Teebi type EXACT Kennedy-Teebi syndrome Benign idiopathic neonatal seizures Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64545 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10834 ICD10:G40.4 Tolosa-Hunt syndrome Painful ophthalmoplegia Orphanet ID- 10835 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Painful ophthalmoplegia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686 EXACT Painful ophthalmoplegia Iridocorneal endothelial syndrome ICE syndrome ICE syndrome Orphanet ID- 10841 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734 EXACT ICE syndrome Riedel thyroiditis Orphanet ID- 10848 ICD10:E06.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64744 http://www.ncbi.nlm.nih.gov/pubmed/21832114 Distal monosomy 10p Distal 10p deletion Monosomy 10pter Telomeric deletion 10p Distal 10p deletion Orphanet ID- 1085 OMIM:601362 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580 ICD10:Q93.5 Monosomy 10pter Telomeric deletion 10p EXACT Telomeric deletion 10p EXACT Distal 10p deletion EXACT Monosomy 10pter Autosomal dominant Charcot-Marie-Tooth disease type 2 Autosomal dominant axonal Charcot-Marie-Tooth disease CMT2 Hereditarymotor and sensoryneuropathy type 2 Hereditarymotor and sensoryneuropathy type 2 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal dominant axonal Charcot-Marie-Tooth disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746 CMT2 ICD10:G60.0 Orphanet ID- 10850 EXACT Hereditarymotor and sensoryneuropathy type 2 EXACT Autosomal dominant axonal Charcot-Marie-Tooth disease EXACT CMT2 X-linked Charcot-Marie-Tooth disease CMTX ICD10:G60.0 prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive; CMTX Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 Orphanet ID- 10851 EXACT CMTX Dejerine-Sottas syndrome Charcot-Marie-Tooth disease type 3 HMSN 3 Hereditary motor and sensory neuropathy type 3 Hypertrophic neuropathy of infancy Charcot-Marie-Tooth disease type 3 Gene [OrphaNum:121314 ; Name:Early growth response 2 (Krox-20 homolog, Drosophila) ; Symbol:EGR2 ; xref: GENATLAS:EGR2 ; xref: HGNC:3239 ; xref: OMIM:129010 ; xref: UNIPROTKB/SWISSPROT:P11161 ; xref: ENSEMBL:ENSG00000122877 ; xref: REACTOME:P11161] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 Gene [OrphaNum:117908 ; Name:Peripheral myelin protein 22 ; Symbol:PMP22 ; xref: GENATLAS:PMP22 ; xref: HGNC:9118 ; xref: OMIM:601097 ; xref: UNIPROTKB/SWISSPROT:Q01453 ; xref: ENSEMBL:ENSG00000109099] OMIM:145900 ICD10:G60.0 Gene [OrphaNum:123473 ; Name:Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) ; Symbol:MPZ ; xref: GENATLAS:MPZ ; xref: HGNC:7225 ; xref: OMIM:159440 ; xref: UNIPROTKB/SWISSPROT:P25189 ; xref: ENSEMBL:ENSG00000158887] Hypertrophic neuropathy of infancy Orphanet ID- 10852 HMSN 3 Hereditary motor and sensory neuropathy type 3 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; EXACT Hypertrophic neuropathy of infancy EXACT HMSN 3 EXACT Hereditary motor and sensory neuropathy type 3 EXACT Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth disease type 4 AR-CMT1 Autosomal recessive demyelinating Charcot-Marie-Tooth CMT4 Orphanet ID- 10853 AR-CMT1 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Autosomal recessive demyelinating Charcot-Marie-Tooth CMT4 ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749 EXACT CMT4 EXACT Autosomal recessive demyelinating Charcot-Marie-Tooth EXACT AR-CMT1 Hereditary motor and sensory neuropathy type 5 Charcot-Marie-Tooth disease - pyramidal features HMSN 5 ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Orphanet ID- 10855 HMSN 5 Charcot-Marie-Tooth disease - pyramidal features Gene [OrphaNum:123207 ; Name:Mitofusin 2 ; Symbol:MFN2 ; xref: GENATLAS:MFN2 ; xref: HGNC:16877 ; xref: OMIM:608507 ; xref: UNIPROTKB/SWISSPROT:O95140 ; xref: REACTOME:O95140 ; xref: ENSEMBL:ENSG00000116688] OMIM:600361 EXACT HMSN 5 EXACT Charcot-Marie-Tooth disease - pyramidal features Hereditary sensory and autonomic neuropathy type 5 Congenital insensitivity to pain and thermal analgesia HSAN 5 HSAN 5 ICD10:G60.8 Orphanet ID- 10856 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752 Gene [OrphaNum:123961 ; Name:Neurotrophic tyrosine kinase, receptor, type 1 ; Symbol:NTRK1 ; xref: GENATLAS:NTRK1 ; xref: HGNC:8031 ; xref: OMIM:191315 ; xref: UNIPROTKB/SWISSPROT:P04629 ; xref: ENSEMBL:ENSG00000198400 ; xref: REACTOME:P04629] OMIM:608654 Congenital insensitivity to pain and thermal analgesia Gene [OrphaNum:123777 ; Name:Nerve growth factor, beta polypeptide ; Symbol:NGF ; xref: GENATLAS:NGF ; xref: HGNC:7808 ; xref: OMIM:162030 ; xref: UNIPROTKB/SWISSPROT:P01138 ; xref: ENSEMBL:ENSG00000134259 ; xref: REACTOME:P01138] EXACT HSAN 5 EXACT Congenital insensitivity to pain and thermal analgesia Spinocerebellar ataxia with axonal neuropathy type 2 AOA2 Ataxia - oculomotor apraxia type 2 SCAN 2 SCAR1 AOA2 ICD10:G60.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; SCAN 2 Gene [OrphaNum:300201 ; Name:Phosphoinositide-3-kinase, regulatory subunit 5 ; Symbol:PIK3R5 ; xref: HGNC:30035 ; xref: OMIM:611317 ; xref: UNIPROTKB/SWISSPROT:Q8WYR1] SCAR1 OMIM:606002 Orphanet ID- 10857 Ataxia - oculomotor apraxia type 2 Gene [OrphaNum:118627 ; Name:Senataxin ; Symbol:SETX ; xref: GENATLAS:SETX ; xref: HGNC:445 ; xref: OMIM:608465 ; xref: UNIPROTKB/SWISSPROT:Q7Z333 ; xref: ENSEMBL:ENSG00000107290] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 EXACT SCAN 2 EXACT SCAR1 EXACT AOA2 EXACT Ataxia - oculomotor apraxia type 2 Nevus comedonicus syndrome Orphanet ID- 10858 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 ICD10:Q82.5 Becker nevus syndrome Pigmentary hairy epidermal nevus OMIM:604919 Orphanet ID- 10859 ICD10:D22.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pigmentary hairy epidermal nevus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 EXACT Pigmentary hairy epidermal nevus Non-distal monosomy 10q Non-distal 10q deletion Non-telomeric monosomy 10q Orphanet ID- 1086 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581 Non-distal 10q deletion ICD10:Q93.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Non-telomeric monosomy 10q EXACT Non-telomeric monosomy 10q EXACT Non-distal 10q deletion Woolly hair - palmoplantar keratoderma - dilated cardiomyopathy Carvajal syndrome Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy Carvajal syndrome Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 OMIM:605676 Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10864 EXACT Carvajal syndrome EXACT Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy Timothy syndrome LQT8 Long QT syndrome - syndactyly Long QT syndrome type 8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 LQT8 Orphanet ID- 10865 Long QT syndrome - syndactyly OMIM:601005 Long QT syndrome type 8 Gene [OrphaNum:119140 ; Name:Calcium channel, voltage-dependent, L type, alpha 1C subunit ; Symbol:CACNA1C ; xref: GENATLAS:CACNA1C ; xref: HGNC:1390 ; xref: OMIM:114205 ; xref: UNIPROTKB/SWISSPROT:Q13936 ; xref: ENSEMBL:ENSG00000151067 ; xref: REACTOME:Q13936 ; xref: IUPHAR:529] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Long QT syndrome - syndactyly EXACT Long QT syndrome type 8 EXACT LQT8 Biotin-responsive basal ganglia disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 OMIM:607483 Gene [OrphaNum:118766 ; Name:Solute carrier family 19, member 3 ; Symbol:SLC19A3 ; xref: GENATLAS:SLC19A3 ; xref: HGNC:16266 ; xref: OMIM:606152 ; xref: UNIPROTKB/SWISSPROT:Q9BZV2 ; xref: ENSEMBL:ENSG00000135917 ; xref: REACTOME:Q9BZV2] Orphanet ID- 10866 Lhermitte-Duclos disease Dysplastic gangliocytoma of the cerebellum LDD Orphanet ID- 10867 ICD10:Q04.8 Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] LDD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 OMIM:158350 Dysplastic gangliocytoma of the cerebellum prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown; EXACT LDD EXACT Dysplastic gangliocytoma of the cerebellum 3q29 microdeletion syndrome 3q subtelomere deletion syndrome 3qter deletion Del(3)(q29) Monosomy 3q29 Monosomy 3qter Monosomy 3q29 3q subtelomere deletion syndrome Del(3)(q29) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286 ICD10:Q93.5 Orphanet ID- 10868 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Monosomy 3qter OMIM:609425 3qter deletion EXACT Monosomy 3qter EXACT Monosomy 3q29 EXACT Del(3)(q29) EXACT 3qter deletion EXACT 3q subtelomere deletion syndrome Beta-ureidopropionase deficiency Beta-alanine synthase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 Beta-alanine synthase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:120426 ; Name:Ureidopropionase, beta ; Symbol:UPB1 ; xref: GENATLAS:UPB1 ; xref: HGNC:16297 ; xref: OMIM:606673 ; xref: UNIPROTKB/SWISSPROT:Q9UBR1 ; xref: REACTOME:Q9UBR1 ; xref: ENSEMBL:ENSG00000100024] OMIM:613161 Orphanet ID- 10869 ICD10:E79.8 EXACT Beta-alanine synthase deficiency Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis Pancreatic and cerebellar agenesis Orphanet ID- 10870 Pancreatic and cerebellar agenesis Gene [OrphaNum:118135 ; Name:Pancreas specific transcription factor, 1a ; Symbol:PTF1A ; xref: GENATLAS:PTF1A ; xref: HGNC:23734 ; xref: OMIM:607194 ; xref: UNIPROTKB/SWISSPROT:Q7RTS3 ; xref: ENSEMBL:ENSG00000168267 ; xref: REACTOME:Q7RTS3] OMIM:609069 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 EXACT Pancreatic and cerebellar agenesis Vaginal atresia Orphanet ID- 10871 ICD10:N89.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Benign recurrent intrahepatic cholestasis BRIC Summerskill-Walshe-Tygstrup syndrome BRIC ICD10:K83.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 Summerskill-Walshe-Tygstrup syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10872 EXACT Summerskill-Walshe-Tygstrup syndrome EXACT BRIC Isolated focal cortical dysplasia Cortical dysplasia, Taylor type Epilepsy due to FCD ICD10:Q04.8 Epilepsy due to FCD prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cortical dysplasia, Taylor type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 Orphanet ID- 10873 OMIM:607341 Gene [OrphaNum:120309 ; Name:Tuberous sclerosis 1 ; Symbol:TSC1 ; xref: GENATLAS:TSC1 ; xref: HGNC:12362 ; xref: OMIM:605284 ; xref: UNIPROTKB/SWISSPROT:Q92574 ; xref: ENSEMBL:ENSG00000165699 ; xref: REACTOME:Q92574] EXACT Epilepsy due to FCD EXACT Cortical dysplasia, Taylor type Arthrogryposis - severe scoliosis Distal arthrogryposis type 4 Distal arthrogryposis type IID prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Distal arthrogryposis type IID OMIM:609128 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720 Distal arthrogryposis type 4 Orphanet ID- 10875 EXACT Distal arthrogryposis type 4 EXACT Distal arthrogryposis type IID Autosomal dominant multiple pterygium syndrome Distal arthrogryposis type 8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:178110 Orphanet ID- 10876 Distal arthrogryposis type 8 EXACT Distal arthrogryposis type 8 Multiple keratoacanthoma, Ferguson-Smith type ESS1 MSSE Multiple self-healing squamous epithelioma Self-healing squamous epithelioma type 1 ICD10:D23.9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 MSSE Self-healing squamous epithelioma type 1 OMIM:132800 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:120065 ; Name:Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ; Symbol:TGFBR1 ; xref: GENATLAS:TGFBR1 ; xref: HGNC:11772 ; xref: OMIM:190181 ; xref: UNIPROTKB/SWISSPROT:P36897 ; xref: REACTOME:P36897 ; xref: ENSEMBL:ENSG00000106799] Multiple self-healing squamous epithelioma Orphanet ID- 10877 ESS1 EXACT Self-healing squamous epithelioma type 1 EXACT Multiple self-healing squamous epithelioma EXACT MSSE EXACT ESS1 Charcot-Marie-Tooth disease type 1 Autosomal dominant demyelinating Charcot-Marie-Tooth disease CMT1 Hereditary motor and sensory neuropathy type 1 ICD10:G60.0 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal dominant demyelinating Charcot-Marie-Tooth disease CMT1 Orphanet ID- 10878 Hereditary motor and sensory neuropathy type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753 EXACT Autosomal dominant demyelinating Charcot-Marie-Tooth disease EXACT Hereditary motor and sensory neuropathy type 1 EXACT CMT1 Carpenter syndrome ACPS 2 Acrocephalopolysyndactyly type 2 Acrocephalopolysyndactyly type 2 Orphanet ID- 10879 ACPS 2 Gene [OrphaNum:123373 ; Name:RAB23, member RAS oncogene family ; Symbol:RAB23 ; xref: GENATLAS:RAB23 ; xref: HGNC:14263 ; xref: OMIM:606144 ; xref: UNIPROTKB/SWISSPROT:Q9ULC3 ; xref: ENSEMBL:ENSG00000112210] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:201000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 EXACT Acrocephalopolysyndactyly type 2 EXACT ACPS 2 Goodman syndrome ACPS 4 Acrocephalopolysyndactyly type 4 OMIM:201020 Acrocephalopolysyndactyly type 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65798 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 10880 ACPS 4 EXACT Acrocephalopolysyndactyly type 4 EXACT ACPS 4 Short fifth metacarpals - insulin resistance prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10881 ICD10:E11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518 Cerebro-oculo-nasal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 OMIM:605627 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.0 Orphanet ID- 10884 Obesity due to congenital leptin deficiency ICD10:E66.8 Gene [OrphaNum:123034 ; Name:Leptin (obesity homolog, mouse) ; Symbol:LEP ; xref: GENATLAS:LEP ; xref: HGNC:6553 ; xref: OMIM:164160 ; xref: UNIPROTKB/SWISSPROT:P41159 ; xref: ENSEMBL:ENSG00000174697 ; xref: REACTOME:P41159] OMIM:164160 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 Orphanet ID- 10886 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Goldberg-Shprintzen megacolon syndrome GOSHS Megacolon - microcephaly Megacolon - microcephaly OMIM:609460 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 Orphanet ID- 10887 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; GOSHS Gene [OrphaNum:122834 ; Name:KIAA1279 ; Symbol:KIAA1279 ; xref: GENATLAS:KIAA1279 ; xref: HGNC:23419 ; xref: OMIM:609367 ; xref: UNIPROTKB/SWISSPROT:Q96EK5 ; xref: ENSEMBL:ENSG00000198954] EXACT GOSHS EXACT Megacolon - microcephaly Congenital pseudoarthrosis of clavicle Orphanet ID- 10888 OMIM:118980 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630 ICD10:Q74.0 CEDNIK syndrome Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 10889 Gene [OrphaNum:119761 ; Name:Synaptosomal-associated protein, 29kDa ; Symbol:SNAP29 ; xref: GENATLAS:SNAP29 ; xref: HGNC:11133 ; xref: OMIM:604202 ; xref: UNIPROTKB/SWISSPROT:O95721 ; xref: ENSEMBL:ENSG00000099940] OMIM:609528 Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 EXACT Cerebral dysgenesis, neuropathy, ichthyosis and palmoplantar keratoderma Sensorineural hearing loss - early greying - essential tremor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 Orphanet ID- 10891 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Dilated cardiomyopathy with ataxia 3-methylglutaconic aciduria type 5 DCMA syndrome MGA5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 Orphanet ID- 10892 OMIM:610198 MGA5 Gene [OrphaNum:168069 ; Name:DnaJ (Hsp40) homolog, subfamily C, member 19 ; Symbol:DNAJC19 ; xref: GENATLAS:DNAJC19 ; xref: HGNC:30528 ; xref: OMIM:608977 ; xref: UNIPROTKB/SWISSPROT:Q96DA6 ; xref: ENSEMBL:ENSG00000205981 ; xref: REACTOME:Q96DA6] DCMA syndrome 3-methylglutaconic aciduria type 5 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT 3-methylglutaconic aciduria type 5 EXACT DCMA syndrome EXACT MGA5 Diaphanospondylodysostosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 Orphanet ID- 10893 ICD10:Q78.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:608022 Gene [OrphaNum:244395 ; Name:BMP binding endothelial regulator ; Symbol:BMPER ; xref: GENATLAS:BMPER ; xref: HGNC:24154 ; xref: OMIM:608699 ; xref: UNIPROTKB/SWISSPROT:Q8N8U9 ; xref: ENSEMBL:ENSG00000164619] Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy type 3 OPA3, autosomal dominant Autosomal dominant optic atrophy type 3 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:124003 ; Name:Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) ; Symbol:OPA3 ; xref: HGNC:8142 ; xref: OMIM:606580 ; xref: UNIPROTKB/SWISSPROT:Q9H6K4 ; xref: GENATLAS:OPA3 ; xref: ENSEMBL:ENSG00000125741] OPA3, autosomal dominant Orphanet ID- 10897 OMIM:165300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 EXACT OPA3, autosomal dominant EXACT Autosomal dominant optic atrophy type 3 Marfan syndrome MFS ICD10:Q87.4 Orphanet ID- 109 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; MFS EXACT MFS Monosomy 13q14 Del(13)(q14) Deletion 13q14 syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Del(13)(q14) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 OMIM:613884 Orphanet ID- 1090 ICD10:Q93.5 Deletion 13q14 syndrome EXACT Deletion 13q14 syndrome EXACT Del(13)(q14) Segmental odontomaxillary dysplasia SOD ICD10:K00.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67039 SOD Orphanet ID- 10900 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; EXACT SOD Hyaluronidase deficiency Mucopolysaccharidosis type 9 Gene [OrphaNum:122556 ; Name:Hyaluronoglucosaminidase 1 ; Symbol:HYAL1 ; xref: GENATLAS:HYAL1 ; xref: HGNC:5320 ; xref: OMIM:607071 ; xref: UNIPROTKB/SWISSPROT:Q12794 ; xref: ENSEMBL:ENSG00000114378] ICD10:E76.2 Mucopolysaccharidosis type 9 Orphanet ID- 10901 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:601492 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 EXACT Mucopolysaccharidosis type 9 Late-onset retinal degeneration Autosomal dominant late-onset retinal degeneration LORD LORD prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:605670 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 Autosomal dominant late-onset retinal degeneration Orphanet ID- 10902 Gene [OrphaNum:138575 ; Name:C1q and tumor necrosis factor related protein 5 ; Symbol:C1QTNF5 ; xref: GENATLAS:C1QTNF5 ; xref: HGNC:14344 ; xref: OMIM:608752 ; xref: UNIPROTKB/SWISSPROT:Q9BXJ0 ; xref: ENSEMBL:ENSG00000223953] EXACT LORD EXACT Autosomal dominant late-onset retinal degeneration Dyserythropoietic anemia with thrombocytopenia X-linked dyserythropoietic anemia and thrombocytopenia X-linked dyserythropoietic anemia and thrombocytopenia ICD10:D69.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 OMIM:300367 Orphanet ID- 10904 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:122028 ; Name:GATA binding protein 1 (globin transcription factor 1) ; Symbol:GATA1 ; xref: GENATLAS:GATA1 ; xref: HGNC:4170 ; xref: OMIM:305371 ; xref: UNIPROTKB/SWISSPROT:P15976 ; xref: ENSEMBL:ENSG00000102145 ; xref: REACTOME:P15976] EXACT X-linked dyserythropoietic anemia and thrombocytopenia X-linked intellectual deficit with isolated growth hormone deficiency MRGH Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300123 MRGH Gene [OrphaNum:138386 ; Name:SRY (sex determining region Y)-box 3 ; Symbol:SOX3 ; xref: GENATLAS:SOX3 ; xref: HGNC:11199 ; xref: OMIM:313430 ; xref: UNIPROTKB/SWISSPROT:P41225 ; xref: ENSEMBL:ENSG00000134595] Orphanet ID- 10905 EXACT MRGH 3-methylglutaconic aciduria type 1 3-methylglutaconyl-CoA hydratase deficiency 3MG-coA hydratase deficiency MGA type 1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; 3-methylglutaconyl-CoA hydratase deficiency Gene [OrphaNum:118941 ; Name:AU RNA binding protein/enoyl-Coenzyme A hydratase ; Symbol:AUH ; xref: GENATLAS:AUH ; xref: HGNC:890 ; xref: OMIM:600529 ; xref: UNIPROTKB/SWISSPROT:Q13825 ; xref: ENSEMBL:ENSG00000148090 ; xref: REACTOME:Q13825] ICD10:E71.1 MGA type 1 OMIM:250950 Orphanet ID- 10906 3MG-coA hydratase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 EXACT MGA type 1 EXACT 3MG-coA hydratase deficiency EXACT 3-methylglutaconyl-CoA hydratase deficiency 3-methylglutaconic aciduria type 3 Autosomal recessive optic atrophy type 3 Costeff optic atrophy syndrome Costeff syndrome Infantile optic atrophy with chorea and spastic paraplegia MGA 3 Optic atrophy plus syndrome Autosomal recessive optic atrophy type 3 Orphanet ID- 10907 Optic atrophy plus syndrome Gene [OrphaNum:159467 ; Name:Zinc finger protein 90 homolog (mouse) ; Symbol:ZFP90 ; xref: GENATLAS:ZFP90 ; xref: HGNC:23329 ; xref: OMIM:609451 ; xref: UNIPROTKB/SWISSPROT:Q8TF47 ; xref: REACTOME:Q8TF47 ; xref: ENSEMBL:ENSG00000184939] prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Costeff optic atrophy syndrome ICD10:E71.1 Infantile optic atrophy with chorea and spastic paraplegia Gene [OrphaNum:124003 ; Name:Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) ; Symbol:OPA3 ; xref: HGNC:8142 ; xref: OMIM:606580 ; xref: UNIPROTKB/SWISSPROT:Q9H6K4 ; xref: GENATLAS:OPA3 ; xref: ENSEMBL:ENSG00000125741] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 MGA 3 OMIM:258501 Costeff syndrome EXACT Costeff syndrome EXACT Autosomal recessive optic atrophy type 3 EXACT Costeff optic atrophy syndrome EXACT Optic atrophy plus syndrome EXACT MGA 3 EXACT Infantile optic atrophy with chorea and spastic paraplegia 3-methylglutaconic aciduria type 4 MGA 4 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; MGA 4 Orphanet ID- 10908 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 OMIM:250951 ICD10:E71.1 EXACT MGA 4 Syndromes with brachydactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 10909 Idiopathic steroid-sensitive nephrotic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69061 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 10910 Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunisation Orphanet ID- 10911 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; Renal glucosuria Familial renal glucosuria SGLT2 deficiency ICD10:E74.8 Familial renal glucosuria SGLT2 deficiency OMIM:233100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 Orphanet ID- 10912 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119697 ; Name:Solute carrier family 5 (sodium/glucose cotransporter), member 2 ; Symbol:SLC5A2 ; xref: GENATLAS:SLC5A2 ; xref: HGNC:11037 ; xref: OMIM:182381 ; xref: UNIPROTKB/SWISSPROT:P31639 ; xref: REACTOME:P31639 ; xref: ENSEMBL:ENSG00000140675] EXACT SGLT2 deficiency EXACT Familial renal glucosuria Odonto-tricho-ungual-digito-palmar syndrome OTUDP syndrome Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 OTUDP syndrome Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type OMIM:601957 Orphanet ID- 10916 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; EXACT OTUDP syndrome EXACT Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type Ectodermal dysplasia with natal teeth, Turnpenny type OMIM:601345 Orphanet ID- 10917 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Pure hair and nail ectodermal dysplasia HNED Hair-nail ectodermal dysplasia OMIM:602032 Gene [OrphaNum:122936 ; Name:Keratin 85 ; Symbol:KRT85 ; xref: GENATLAS:KRT85 ; xref: HGNC:6462 ; xref: OMIM:602767 ; xref: UNIPROTKB/SWISSPROT:P78386 ; xref: ENSEMBL:ENSG00000135443] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 Orphanet ID- 10918 Hair-nail ectodermal dysplasia HNED prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Hair-nail ectodermal dysplasia EXACT HNED Limb-mammary syndrome LMS prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:120207 ; Name:Tumor Protein p63 ; Symbol:TP63 ; xref: OMIM:603273 ; xref: UNIPROTKB/SWISSPROT:Q9H3D4 ; xref: GENATLAS:TP63 ; xref: HGNC:15979 ; xref: ENSEMBL:ENSG00000073282] Orphanet ID- 10919 OMIM:603543 LMS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 EXACT LMS Distal monosomy 13q 13q32 deletion Deletion 13q32 Distal 13q deletion Délétion 13q32 Monosomy 13q32 Telomeric 13q deletion 13q32 deletion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric 13q deletion Distal 13q deletion OMIM:602553 Orphanet ID- 1092 Délétion 13q32 Deletion 13q32 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 Monosomy 13q32 ICD10:Q93.5 EXACT Distal 13q deletion EXACT Deletion 13q32 EXACT 13q32 deletion EXACT Telomeric 13q deletion EXACT Délétion 13q32 EXACT Monosomy 13q32 Ectodermal dysplasia - skin fragility syndrome McGrath syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69086 McGrath syndrome Orphanet ID- 10920 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; OMIM:604536 Gene [OrphaNum:117868 ; Name:Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) ; Symbol:PKP1 ; xref: GENATLAS:PKP1 ; xref: HGNC:9023 ; xref: OMIM:601975 ; xref: UNIPROTKB/SWISSPROT:Q13835 ; xref: ENSEMBL:ENSG00000081277 ; xref: REACTOME:Q13835] EXACT McGrath syndrome Naegeli-Franceschetti-Jadassohn syndrome NFJ syndrome Naegeli syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 Naegeli syndrome NFJ syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847] OMIM:161000 Orphanet ID- 10921 EXACT NFJ syndrome EXACT Naegeli syndrome Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema OL-EDA-ID Gene [OrphaNum:122614 ; Name:Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma ; Symbol:IKBKG ; xref: ENSEMBL:ENSG00000073009 ; xref: REACTOME:Q9Y6K9 ; xref: UNIPROTKB/SWISSPROT:Q9Y6K9 ; xref: GENATLAS:IKBKG ; xref: HGNC:5961 ; xref: OMIM:300248] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; OL-EDA-ID Orphanet ID- 10922 OMIM:300301 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 EXACT OL-EDA-ID Anonychia with flexural pigmentation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 OMIM:106750 Orphanet ID- 10923 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Pyogenic arthritis - pyoderma gangrenosum - acne FRA Familial recurrent arthritis PAPA syndrome OMIM:604416 FRA prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 Familial recurrent arthritis Gene [OrphaNum:118114 ; Name:Proline-serine-threonine phosphatase interacting protein 1 ; Symbol:PSTPIP1 ; xref: GENATLAS:PSTPIP1 ; xref: HGNC:9580 ; xref: OMIM:606347 ; xref: UNIPROTKB/SWISSPROT:O43586 ; xref: ENSEMBL:ENSG00000140368 ; xref: REACTOME:O43586] Orphanet ID- 10924 PAPA syndrome EXACT Familial recurrent arthritis EXACT PAPA syndrome EXACT FRA Low phospholipid associated cholelithiasis ABCB4 gene mutation-associated cholelithiasis Cholelithiasis with ABCB4 gene mutation Cholelithiasis with ABCB4 gene mutation Gene [OrphaNum:117639 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 4 ; Symbol:ABCB4 ; xref: GENATLAS:ABCB4 ; xref: HGNC:45 ; xref: OMIM:171060 ; xref: UNIPROTKB/SWISSPROT:P21439 ; xref: REACTOME:P21439 ; xref: ENSEMBL:ENSG00000005471] OMIM:600803 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; ABCB4 gene mutation-associated cholelithiasis Orphanet ID- 10932 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663 EXACT Cholelithiasis with ABCB4 gene mutation EXACT ABCB4 gene mutation-associated cholelithiasis Tyrosinemia type 3 Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia type III Orphanet ID- 10935 OMIM:276710 Gene [OrphaNum:122470 ; Name:4-hydroxyphenylpyruvate dioxygenase ; Symbol:HPD ; xref: GENATLAS:HPD ; xref: HGNC:5147 ; xref: OMIM:609695 ; xref: UNIPROTKB/SWISSPROT:P32754 ; xref: REACTOME:P32754 ; xref: ENSEMBL:ENSG00000158104] Tyrosinemia due to HPD deficiency ICD10:E70.2 Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency Tyrosinemia type III Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency EXACT Tyrosinemia due to HPD deficiency EXACT Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency EXACT Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency EXACT Tyrosinemia type III Hypotrichosis - lymphedema - telangiectasia Orphanet ID- 10936 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 OMIM:607823 Gene [OrphaNum:119788 ; Name:SRY (sex determining region Y)-box 18 ; Symbol:SOX18 ; xref: GENATLAS:SOX18 ; xref: HGNC:11194 ; xref: OMIM:601618 ; xref: UNIPROTKB/SWISSPROT:P35713 ; xref: ENSEMBL:ENSG00000203883] Bosley-Salih-Alorainy syndrome OMIM:601536 Orphanet ID- 10938 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:123364 ; Name:homeobox A1 ; Symbol:HOXA1 ; xref: GENATLAS:HOXA1 ; xref: HGNC:5099 ; xref: OMIM:142955 ; xref: UNIPROTKB/SWISSPROT:P49639 ; xref: ENSEMBL:ENSG00000105991] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 Athabaskan brainstem dysgenesis syndrome ABSD Navajo brainstem syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 10939 ABSD Navajo brainstem syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 OMIM:601536 Gene [OrphaNum:123364 ; Name:homeobox A1 ; Symbol:HOXA1 ; xref: GENATLAS:HOXA1 ; xref: HGNC:5099 ; xref: OMIM:142955 ; xref: UNIPROTKB/SWISSPROT:P49639 ; xref: ENSEMBL:ENSG00000105991] EXACT Navajo brainstem syndrome EXACT ABSD Hyperlipoproteinemia type 5 Major hyperlipidemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70470 Gene [OrphaNum:123112 ; Name:Lipoprotein lipase ; Symbol:LPL ; xref: GENATLAS:LPL ; xref: HGNC:6677 ; xref: OMIM:609708 ; xref: UNIPROTKB/SWISSPROT:P06858 ; xref: ENSEMBL:ENSG00000175445 ; xref: REACTOME:P06858] ICD10:E78.3 Gene [OrphaNum:121382 ; Name:Apolipoprotein A-V ; Symbol:APOA5 ; xref: GENATLAS:APOA5 ; xref: HGNC:17288 ; xref: OMIM:606368 ; xref: UNIPROTKB/SWISSPROT:Q6Q788 ; xref: ENSEMBL:ENSG00000110243 ; xref: REACTOME:Q6Q788] Major hyperlipidemia OMIM:144650 Gene [OrphaNum:201108 ; Name:Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ; Symbol:GPIHBP1 ; xref: GENATLAS:GPIHBP1 ; xref: HGNC:24945 ; xref: OMIM:612757 ; xref: UNIPROTKB/SWISSPROT:Q8IV16 ; xref: ENSEMBL:ENSG00000182851] Orphanet ID- 10944 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Major hyperlipidemia Saguenay-Lac-St. Jean cytochrome oxidase deficiency French-Canadian type COX deficiency French-Canadian type Cytochrome C oxidase deficiency French-Canadian type Leigh syndrome SLSJ-COX deficiency Saguenay-Lac-St. Jean type Leigh syndrome Saguenay-Lac-St. Jean type Leigh syndrome French-Canadian type Cytochrome C oxidase deficiency OMIM:220111 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; French-Canadian type COX deficiency Orphanet ID- 10945 Gene [OrphaNum:123124 ; Name:Leucine-rich PPR-motif containing ; Symbol:LRPPRC ; xref: GENATLAS:LRPPRC ; xref: HGNC:15714 ; xref: OMIM:607544 ; xref: UNIPROTKB/SWISSPROT:P42704 ; xref: ENSEMBL:ENSG00000138095] SLSJ-COX deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 ICD10:G31.8 French-Canadian type Leigh syndrome EXACT French-Canadian type Cytochrome C oxidase deficiency EXACT French-Canadian type COX deficiency EXACT Saguenay-Lac-St. Jean type Leigh syndrome EXACT SLSJ-COX deficiency EXACT French-Canadian type Leigh syndrome Leigh syndrome with cardiomyopathy Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy due to COX deficiency Leigh disease with myopathy Gene [OrphaNum:242929 ; Name:Chromosome 12 open reading frame 65 ; Symbol:C12ORF65 ; xref: ENSEMBL:ENSG00000130921 ; xref: GENATLAS:C12orf65 ; xref: HGNC:26784 ; xref: UNIPROTKB/SWISSPROT:Q9H3J6 ; xref: OMIM:613541] Gene [OrphaNum:167892 ; Name:Cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) ; Symbol:COX6B1 ; xref: GENATLAS:COX6B1 ; xref: HGNC:2280 ; xref: OMIM:124089 ; xref: UNIPROTKB/SWISSPROT:P14854 ; xref: ENSEMBL:ENSG00000126267 ; xref: REACTOME:P14854] Orphanet ID- 10947 Gene [OrphaNum:119904 ; Name:Surfeit 1 ; Symbol:SURF1 ; xref: GENATLAS:SURF1 ; xref: HGNC:11474 ; xref: OMIM:185620 ; xref: UNIPROTKB/SWISSPROT:Q15526 ; xref: ENSEMBL:ENSG00000148290] Gene [OrphaNum:120776 ; Name:COX15 homolog, cytochrome c oxidase assembly protein (yeast) ; Symbol:COX15 ; xref: GENATLAS:COX15 ; xref: HGNC:2263 ; xref: OMIM:603646 ; xref: UNIPROTKB/SWISSPROT:Q7KZN9 ; xref: ENSEMBL:ENSG00000014919] Gene [OrphaNum:267102 ; Name:cytochrome C oxidase assembly factor 5 ; Symbol:COA5 ; xref: UNIPROTKB/SWISSPROT:Q86WW8 ; xref: ENSEMBL:ENSG00000183513 ; xref: HGNC:33848 ; xref: OMIM:613920] Gene [OrphaNum:201567 ; Name:Translational activator of mitochondrially encoded cytochrome c oxidase I ; Symbol:TACO1 ; xref: ENSEMBL:ENSG00000136463 ; xref: GENATLAS:CCDC44 ; xref: HGNC:24316 ; xref: UNIPROTKB/SWISSPROT:Q9BSH4 ; xref: OMIM:612958] ICD10:G31.8 OMIM:308930 Cardiomyopathy with myopathy due to COX deficiency OMIM:256000 Gene [OrphaNum:120774 ; Name:COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) ; Symbol:COX10 ; xref: GENATLAS:COX10 ; xref: HGNC:2260 ; xref: OMIM:602125 ; xref: UNIPROTKB/SWISSPROT:Q12887 ; xref: ENSEMBL:ENSG00000006695] Leigh disease with myopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency OMIM:220110 Gene [OrphaNum:124161 ; Name:Pyruvate dehydrogenase (lipoamide) alpha 1 ; Symbol:PDHA1 ; xref: GENATLAS:PDHA1 ; xref: HGNC:8806 ; xref: OMIM:300502 ; xref: UNIPROTKB/SWISSPROT:P08559 ; xref: ENSEMBL:ENSG00000131828 ; xref: REACTOME:P08559] Gene [OrphaNum:118546 ; Name:SCO cytochrome oxidase deficient homolog 2 (yeast) ; Symbol:SCO2 ; xref: GENATLAS:SCO2 ; xref: HGNC:10604 ; xref: OMIM:604272 ; xref: UNIPROTKB/SWISSPROT:O43819 ; xref: ENSEMBL:ENSG00000130489] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70474 EXACT Cardiomyopathy with myopathy due to COX deficiency EXACT Leigh disease with myopathy EXACT Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Vernal keratoconjunctivitis Spring catarrh Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70476 Spring catarrh Orphanet ID- 10949 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; EXACT Spring catarrh Distal monosomy 17q Distal 17q deletion Monosomy 17qter Telomeric 17q deletion ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597 Orphanet ID- 1096 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Distal 17q deletion Telomeric 17q deletion Monosomy 17qter EXACT Telomeric 17q deletion EXACT Distal 17q deletion EXACT Monosomy 17qter Bronchopulmonary dysplasia BPD true ICD10:P27.1 Orphanet ID- 10960 BPD prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589 EXACT BPD Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency IRAK4 deficiency Orphanet ID- 10963 OMIM:607676 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70592 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; IRAK4 deficiency Gene [OrphaNum:122674 ; Name:Interleukin-1 receptor-associated kinase 4 ; Symbol:IRAK4 ; xref: GENATLAS:IRAK4 ; xref: HGNC:17967 ; xref: OMIM:606883 ; xref: UNIPROTKB/SWISSPROT:Q9NWZ3 ; xref: ENSEMBL:ENSG00000198001 ; xref: REACTOME:Q9NWZ3] EXACT IRAK4 deficiency Immunodeficiency due to selective anti-polysaccharide antibody deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Multigenic/multifactorial; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70593 Orphanet ID- 10964 Dopa responsive dystonia due to sepiapterin reductase deficiency OMIM:612716 Orphanet ID- 10965 ICD10:G24.1 Gene [OrphaNum:119844 ; Name:Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) ; Symbol:SPR ; xref: HGNC:11257 ; xref: OMIM:182125 ; xref: UNIPROTKB/SWISSPROT:P35270 ; xref: GENATLAS:SPR ; xref: REACTOME:P35270 ; xref: ENSEMBL:ENSG00000116096] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 Sensory ataxic neuropathy - dysarthria - ophthalmoparesis SANDO Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 OMIM:607459 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; SANDO Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521] Orphanet ID- 10966 EXACT SANDO Rare hemorrhagic disorder due to a constitutional platelet anomaly Orphanet ID- 10980 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71202 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to SCHAD deficiency Hyperinsulinism due to glutamodehydrogenase deficiency Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to glutamodehydrogenase deficiency OMIM:231530 Orphanet ID- 10987 Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to SCHAD deficiency Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency OMIM:609975 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 Gene [OrphaNum:122356 ; Name:Hydroxyacyl-Coenzyme A dehydrogenase ; Symbol:HADH ; xref: REACTOME:Q16836 ; xref: GENATLAS:HADH ; xref: HGNC:4799 ; xref: OMIM:601609 ; xref: UNIPROTKB/SWISSPROT:Q16836 ; xref: ENSEMBL:ENSG00000138796] ICD10:E71.3 Hyperinsulinism due to HADH deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency EXACT Hyperinsulinism due to HADH deficiency EXACT Hyperinsulinism due to SCHAD deficiency EXACT Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency EXACT Hyperinsulinism due to glutamodehydrogenase deficiency Retinal cavernous hemangioma ICD10:D18.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 10988 Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 10989 Auriculoocular anomalies - cleft lip prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71270 Orphanet ID- 10992 Split hand - split foot - deafness Orphanet ID- 10993 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 Gene [OrphaNum:291751 ; Name:Distal-less homeobox 5 ; Symbol:DLX5 ; xref: HGNC:2918 ; xref: OMIM:600028 ; xref: GENATLAS:DLX5 ; xref: UNIPROTKB/SWISSPROT:P56178 ; xref: ENSEMBL:ENSG00000105880] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Unknown; OMIM:220600 Renal nutcracker syndrome Left renal vein entrapment syndrome RNS Orphanet ID- 10995 Left renal vein entrapment syndrome RNS prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273 EXACT Left renal vein entrapment syndrome EXACT RNS Rh deficiency syndrome Rh-null syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 OMIM:111700 Gene [OrphaNum:118307 ; Name:Rh-associated glycoprotein ; Symbol:RHAG ; xref: GENATLAS:RHAG ; xref: HGNC:10006 ; xref: OMIM:180297 ; xref: UNIPROTKB/SWISSPROT:Q02094 ; xref: ENSEMBL:ENSG00000112077 ; xref: REACTOME:Q02094] ICD10:D58.8 OMIM:268150 prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:286217 ; Name:Rh blood group, D antigen ; Symbol:RHD ; xref: GENATLAS:RHD ; xref: HGNC:10009 ; xref: OMIM:111680 ; xref: UNIPROTKB/SWISSPROT:Q02161 ; xref: ENSEMBL:ENSG00000187010] Rh-null syndrome Orphanet ID- 10997 Gene [OrphaNum:118311 ; Name:Rh blood group, CcEe antigens ; Symbol:RHCE ; xref: GENATLAS:RHCE ; xref: HGNC:10008 ; xref: OMIM:111700 ; xref: UNIPROTKB/SWISSPROT:P18577 ; xref: ENSEMBL:ENSG00000188672] EXACT Rh-null syndrome Glucose transporter type 1 deficiency syndrome De Vivo disease Encephalopathy due to GLUT1 deficiency Glut-1 deficiency Syndrome Glut1-DS OMIM:606777 Gene [OrphaNum:158410 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 1 ; Symbol:SLC2A1 ; xref: UNIPROTKB/SWISSPROT:P11166 ; xref: REACTOME:P11166 ; xref: GENATLAS:SLC2A1 ; xref: HGNC:11005 ; xref: OMIM:138140 ; xref: ENSEMBL:ENSG00000117394] Encephalopathy due to GLUT1 deficiency ICD10:G93.4 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Glut-1 deficiency Syndrome De Vivo disease Glut1-DS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 Orphanet ID- 10999 EXACT Encephalopathy due to GLUT1 deficiency EXACT De Vivo disease EXACT Glut-1 deficiency Syndrome EXACT Glut1-DS Cystinosis Protein defect of cystin transport OMIM:219750 OMIM:219800 Orphanet ID- 11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 OMIM:219900 Protein defect of cystin transport ICD10:E72.0 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal recessive; Gene [OrphaNum:120884 ; Name:Cystinosis, nephropathic ; Symbol:CTNS ; xref: GENATLAS:CTNS ; xref: HGNC:2518 ; xref: OMIM:606272 ; xref: UNIPROTKB/SWISSPROT:O60931 ; xref: ENSEMBL:ENSG00000040531] EXACT Protein defect of cystin transport CHARGE syndrome CHARGE association Coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary problems, ear abnormalities Hall-Hittner syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 Gene [OrphaNum:118590 ; Name:Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E ; Symbol:SEMA3E ; xref: GENATLAS:SEMA3E ; xref: HGNC:10727 ; xref: OMIM:608166 ; xref: UNIPROTKB/SWISSPROT:O15041 ; xref: ENSEMBL:ENSG00000170381 ; xref: REACTOME:O15041] Coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary problems, ear abnormalities Gene [OrphaNum:119389 ; Name:Chromodomain helicase DNA binding protein 7 ; Symbol:CHD7 ; xref: GENATLAS:CHD7 ; xref: HGNC:20626 ; xref: OMIM:608892 ; xref: UNIPROTKB/SWISSPROT:Q9P2D1 ; xref: ENSEMBL:ENSG00000171316] CHARGE association Orphanet ID- 110 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal dominant; ICD10:Q87.8 OMIM:214800 Hall-Hittner syndrome EXACT Coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary problems, ear abnormalities EXACT CHARGE association EXACT Hall-Hittner syndrome Congenital brain dysgenesis due to glutamine synthetase deficiency Gene [OrphaNum:168083 ; Name:Glutamate-ammonia ligase (glutamine synthetase) ; Symbol:GLUL ; xref: GENATLAS:GLUL ; xref: HGNC:4341 ; xref: OMIM:138290 ; xref: UNIPROTKB/SWISSPROT:P15104 ; xref: ENSEMBL:ENSG00000135821 ; xref: REACTOME:P15104] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; ICD10:E72.8 Orphanet ID- 11000 OMIM:610015 Radio-ulnar synostosis - amegakaryocytic thrombocytopenia ATRUS syndrome ICD10:D69.8 ATRUS syndrome Gene [OrphaNum:123347 ; Name:homeobox A11 ; Symbol:HOXA11  ; xref: GENATLAS:HOXA11  ; xref: HGNC:5101 ; xref: OMIM:142958 ; xref: UNIPROTKB/SWISSPROT:P31270 ; xref: ENSEMBL:ENSG00000005073] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 Orphanet ID- 11011 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:605432 EXACT ATRUS syndrome Familial platelet syndrome with predisposition to acute myelogenous leukemia FPS/AML syndrome Familial platelet disorder with associated myeloid malignancy Familial platelet syndrome Gene [OrphaNum:118423 ; Name:Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene) ; Symbol:RUNX1 ; xref: GENATLAS:RUNX1 ; xref: HGNC:10471 ; xref: OMIM:151385 ; xref: UNIPROTKB/SWISSPROT:Q01196 ; xref: ENSEMBL:ENSG00000159216] OMIM:601399 Orphanet ID- 11012 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Familial platelet disorder with associated myeloid malignancy Familial platelet syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 FPS/AML syndrome ICD10:D69.4 EXACT Familial platelet syndrome EXACT FPS/AML syndrome EXACT Familial platelet disorder with associated myeloid malignancy Hereditary vascular retinopathy HVR Hereditary vascular retinopathy - Raynaud phenomenon - migraine Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71291 Gene [OrphaNum:120255 ; Name:Three prime repair exonuclease 1 ; Symbol:TREX1 ; xref: GENATLAS:TREX1 ; xref: HGNC:12269 ; xref: OMIM:606609 ; xref: UNIPROTKB/SWISSPROT:Q9NSU2 ; xref: ENSEMBL:ENSG00000213689] Orphanet ID- 11013 OMIM:192315 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Hereditary vascular retinopathy - Raynaud phenomenon - migraine HVR EXACT Hereditary vascular retinopathy - Raynaud phenomenon - migraine EXACT HVR Familial thrombocytosis Familial thrombocythemia Hereditary thrombocythemia Gene [OrphaNum:120091 ; Name:Thrombopoietin (myeloproliferative leukemia virus oncogene ligand, megakaryocyte growth and development factor) ; Symbol:THPO ; xref: GENATLAS:THPO ; xref: HGNC:11795 ; xref: OMIM:600044 ; xref: UNIPROTKB/SWISSPROT:P40225 ; xref: ENSEMBL:ENSG00000090534 ; xref: REACTOME:P40225] Gene [OrphaNum:122727 ; Name:Janus kinase 2 (a protein tyrosine kinase) ; Symbol:JAK2 ; xref: GENATLAS:JAK2 ; xref: HGNC:6192 ; xref: OMIM:147796 ; xref: UNIPROTKB/SWISSPROT:O60674 ; xref: REACTOME:O60674 ; xref: ENSEMBL:ENSG00000096968] Familial thrombocythemia OMIM:300331 Gene [OrphaNum:123465 ; Name:Myeloproliferative leukemia virus oncogene ; Symbol:MPL ; xref: GENATLAS:MPL ; xref: HGNC:7217 ; xref: OMIM:159530 ; xref: UNIPROTKB/SWISSPROT:P40238 ; xref: ENSEMBL:ENSG00000117400 ; xref: REACTOME:P40238] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 11014 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 OMIM:614521 ICD10:D75.2 OMIM:601977 Hereditary thrombocythemia OMIM:187950 EXACT Hereditary thrombocythemia EXACT Familial thrombocythemia Mixed dystonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71516 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11016 Rapid-onset dystonia-parkinsonism DYT12 Dystonia 12 Orphanet ID- 11017 Gene [OrphaNum:121501 ; Name:ATPase, Na+/K+ transporting, alpha 3 polypeptide ; Symbol:ATP1A3 ; xref: GENATLAS:ATP1A3 ; xref: HGNC:801 ; xref: OMIM:182350 ; xref: UNIPROTKB/SWISSPROT:P13637 ; xref: ENSEMBL:ENSG00000105409 ; xref: REACTOME:P13637] OMIM:128235 DYT12 Dystonia 12 ICD10:G24.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT DYT12 EXACT Dystonia 12 Benign paroxysmal torticollis of infancy Orphanet ID- 11018 Gene [OrphaNum:119129 ; Name:Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ; Symbol:CACNA1A ; xref: GENATLAS:CACNA1A ; xref: HGNC:1388 ; xref: OMIM:601011 ; xref: UNIPROTKB/SWISSPROT:O00555 ; xref: IUPHAR:532 ; xref: ENSEMBL:ENSG00000141837 ; xref: REACTOME:O00555] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Obesity due to pro-opiomelanocortin deficiency POMC deficiency ICD10:E66.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 Orphanet ID- 11020 Gene [OrphaNum:123421 ; Name:Proopiomelanocortin gene ; Symbol:POMC ; xref: GENATLAS:POMC ; xref: HGNC:9201 ; xref: OMIM:176830 ; xref: UNIPROTKB/SWISSPROT:P01189 ; xref: ENSEMBL:ENSG00000115138 ; xref: REACTOME:P01189] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:609734 POMC deficiency EXACT POMC deficiency Obesity due to prohormone convertase-I deficiency PCI deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; PCI deficiency Gene [OrphaNum:124131 ; Name:Proprotein convertase subtilisin/kexin type 1 ; Symbol:PCSK1 ; xref: GENATLAS:PCSK1 ; xref: HGNC:8743 ; xref: OMIM:162150 ; xref: UNIPROTKB/SWISSPROT:P29120 ; xref: REACTOME:P29120 ; xref: ENSEMBL:ENSG00000175426] ICD10:E66.8 Orphanet ID- 11021 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 OMIM:600955 EXACT PCI deficiency Obesity due to melanocortin-4 receptor deficiency MC4R deficiency ICD10:E66.8 MC4R deficiency Orphanet ID- 11022 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:168091 ; Name:Melanocortin 4 receptor ; Symbol:MC4R ; xref: GENATLAS:MC4R ; xref: HGNC:6932 ; xref: OMIM:155541 ; xref: UNIPROTKB/SWISSPROT:P32245 ; xref: REACTOME:P32245 ; xref: IUPHAR:285 ; xref: ENSEMBL:ENSG00000166603] OMIM:601665 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 EXACT MC4R deficiency Rare genetic neurological disease Orphanet ID- 11025 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71859 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Retinal dystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71862 Orphanet ID- 11028 Muscular channelopathy Orphanet ID- 11030 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71864 Intractable diarrhea of infancy IDI IDI Orphanet ID- 11032 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73014 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-Any age; EXACT IDI Mullerian aplasia Mullerian duct failure Mullerian duct failure Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217 Orphanet ID- 11033 Gene [OrphaNum:158588 ; Name:HNF1 homeobox B ; Symbol:HNF1B ; xref: ENSEMBL:ENSG00000108753 ; xref: REACTOME:P35680 ; xref: GENATLAS:HNF1B ; xref: HGNC:11630 ; xref: OMIM:189907 ; xref: UNIPROTKB/SWISSPROT:P35680] prevalence- 1-5 / 10 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Mullerian duct failure X-linked intellectual deficit - hypotonic face Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73220 Orphanet ID- 11034 OMIM:309580 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Global developmental delay - osteopenia - ectodermal defect ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 11035 ICD10:F91.8 Tubular renal disease - cardiomyopathy ICD10:N25.8 ICD10:I42.0 Orphanet ID- 11036 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures HANAC syndrome Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome ICD10:H35.0 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:120716 ; Name:Collagen, type IV, alpha 1 ; Symbol:COL4A1 ; xref: GENATLAS:COL4A1 ; xref: HGNC:2202 ; xref: OMIM:120130 ; xref: UNIPROTKB/SWISSPROT:P02462 ; xref: ENSEMBL:ENSG00000187498 ; xref: REACTOME:P02462] Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome OMIM:611773 Orphanet ID- 11037 HANAC syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 ICD10:R31 EXACT HANAC syndrome EXACT Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome Ossification anomalies - psychomotor development delay prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:Q79.8 Orphanet ID- 11038 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 Spinal muscular atrophy - Dandy-Walker complex - cataracts ICD10:G12.8 Orphanet ID- 11039 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay Orphanet ID- 11040 ICD10:Q89.7 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 Bleeding diathesis due to a collagen receptor defect prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271 ICD10:D69.1 Orphanet ID- 11047 Growth delay due to insulin-like growth factor I deficiency Growth delay - deafness- intellectual deficit IGF-1 deficiency Primary insulin-like growth factor deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:122587 ; Name:Insulin-like growth factor 1 (somatomedin C) ; Symbol:IGF1 ; xref: GENATLAS:IGF1 ; xref: HGNC:5464 ; xref: OMIM:147440 ; xref: UNIPROTKB/SWISSPROT:P05019 ; xref: ENSEMBL:ENSG00000017427 ; xref: REACTOME:P05019] Orphanet ID- 11048 OMIM:608747 Growth delay - deafness- intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 Primary insulin-like growth factor deficiency IGF-1 deficiency ICD10:E34.3 EXACT Growth delay - deafness- intellectual deficit EXACT Primary insulin-like growth factor deficiency EXACT IGF-1 deficiency Growth delay due to insulin-like growth factor I resistance Resistance to IGF-1 Gene [OrphaNum:138578 ; Name:Insulin-like growth factor 1 receptor ; Symbol:IGF1R ; xref: GENATLAS:IGF1R ; xref: HGNC:5465 ; xref: OMIM:147370 ; xref: UNIPROTKB/SWISSPROT:P08069 ; xref: ENSEMBL:ENSG00000140443] ICD10:E34.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 OMIM:270450 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Resistance to IGF-1 Orphanet ID- 11049 EXACT Resistance to IGF-1 Wolman disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 ICD10:E75.5 Orphanet ID- 11067 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:123063 ; Name:Lipase A, lysosomal acid, cholesterol esterase (Wolman disease) ; Symbol:LIPA ; xref: GENATLAS:LIPA ; xref: HGNC:6617 ; xref: UNIPROTKB/SWISSPROT:P38571 ; xref: OMIM:613497 ; xref: ENSEMBL:ENSG00000107798] OMIM:278000 Cholesteryl ester storage disease Cholesterol ester storage disease Orphanet ID- 11068 Gene [OrphaNum:123063 ; Name:Lipase A, lysosomal acid, cholesterol esterase (Wolman disease) ; Symbol:LIPA ; xref: GENATLAS:LIPA ; xref: HGNC:6617 ; xref: UNIPROTKB/SWISSPROT:P38571 ; xref: OMIM:613497 ; xref: ENSEMBL:ENSG00000107798] OMIM:278000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 ICD10:E75.5 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Cholesterol ester storage disease EXACT Cholesterol ester storage disease Familial isolated restrictive cardiomyopathy Familial or idiopathic restrictive cardiomyopathy ICD10:I42.5 OMIM:115210 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 11069 OMIM:609578 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 Familial or idiopathic restrictive cardiomyopathy OMIM:612422 EXACT Familial or idiopathic restrictive cardiomyopathy Osteosclerosis - ichthyosis - premature ovarian failure Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure Orphanet ID- 11070 OMIM:609993 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Unknown; EXACT Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure Retinal arteries tortuosity Retinal arteriolar tortuosity Retinal hemorrhage with vascular tortuosity prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 11071 Retinal hemorrhage with vascular tortuosity Retinal arteriolar tortuosity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326 OMIM:180000 EXACT Retinal arteriolar tortuosity EXACT Retinal hemorrhage with vascular tortuosity North Carolina macular dystrophy CAPE dystrophy CAPED Central areolar pigment epithelial dystrophy Central retinal pigment epithelial dystrophy MCDR1 NCMD North Carolina macular dystrophy, retinal 1 Progressive foveal dystrophy prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; CAPE dystrophy Central retinal pigment epithelial dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 OMIM:136550 North Carolina macular dystrophy, retinal 1 MCDR1 Progressive foveal dystrophy CAPED NCMD Central areolar pigment epithelial dystrophy Orphanet ID- 11072 EXACT CAPED EXACT Central areolar pigment epithelial dystrophy EXACT Central retinal pigment epithelial dystrophy EXACT Progressive foveal dystrophy EXACT MCDR1 EXACT North Carolina macular dystrophy, retinal 1 EXACT CAPE dystrophy EXACT NCMD Progressive bifocal chorioretinal atrophy CRAPB PBCRA Orphanet ID- 11073 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; CRAPB PBCRA OMIM:600790 EXACT PBCRA EXACT CRAPB Bradyopsia PERRS Prolonged electroretinal response supression Gene [OrphaNum:118301 ; Name:Regulator of G protein signalling 9 binding protein ; Symbol:RGS9BP ; xref: GENATLAS:RGS9BP ; xref: HGNC:30304 ; xref: OMIM:607814 ; xref: UNIPROTKB/SWISSPROT:Q6ZS82 ; xref: ENSEMBL:ENSG00000186326] OMIM:608415 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 Orphanet ID- 11074 PERRS Gene [OrphaNum:118299 ; Name:Regulator of G-protein signalling 9 ; Symbol:RGS9 ; xref: GENATLAS:RGS9 ; xref: HGNC:10004 ; xref: OMIM:604067 ; xref: UNIPROTKB/SWISSPROT:O75916 ; xref: ENSEMBL:ENSG00000108370 ; xref: REACTOME:O75916] Prolonged electroretinal response supression EXACT PERRS EXACT Prolonged electroretinal response supression Familial drusen DHRD Dominant drusen Dominant radial drusen Doyne honeycomb retinal dystrophy Malattia leventinese Gene [OrphaNum:121292 ; Name:EGF-containing fibulin-like extracellular matrix protein 1 ; Symbol:EFEMP1 ; xref: GENATLAS:EFEMP1 ; xref: HGNC:3218 ; xref: OMIM:601548 ; xref: UNIPROTKB/SWISSPROT:Q12805 ; xref: ENSEMBL:ENSG00000115380] OMIM:126700 Gene [OrphaNum:119363 ; Name:Complement factor H ; Symbol:CFH ; xref: GENATLAS:CFH ; xref: HGNC:4883 ; xref: OMIM:134370 ; xref: UNIPROTKB/SWISSPROT:P08603 ; xref: REACTOME:P08603 ; xref: ENSEMBL:ENSG00000000971] Dominant drusen Dominant radial drusen OMIM:126600 Malattia leventinese Orphanet ID- 11075 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; DHRD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376 Doyne honeycomb retinal dystrophy EXACT Doyne honeycomb retinal dystrophy EXACT Dominant drusen EXACT DHRD EXACT Dominant radial drusen EXACT Malattia leventinese Central areolar choroidal dystrophy Areolar atrophy of the macula CACD Central areolar choroidal sclerosis CACD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 OMIM:613105 Orphanet ID- 11076 Areolar atrophy of the macula OMIM:215500 Central areolar choroidal sclerosis OMIM:613144 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619] ICD10:H31.2 EXACT CACD EXACT Areolar atrophy of the macula EXACT Central areolar choroidal sclerosis Oligocone trichromacy Oligocone syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Oligocone syndrome Orphanet ID- 11077 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378 EXACT Oligocone syndrome Cystoid macular dystrophy Autosomal dominant cystoid macular edema DCMD Familial macular edema Orphanet ID- 11078 Familial macular edema Autosomal dominant cystoid macular edema prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; DCMD OMIM:153880 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381 EXACT Familial macular edema EXACT DCMD EXACT Autosomal dominant cystoid macular edema Oguchi disease Congenital stationary night blindness, Oguchi type Oguchi's disease Oguchi's syndrome Gene [OrphaNum:122286 ; Name:G protein-coupled receptor kinase 1 ; Symbol:GRK1 ; xref: GENATLAS:GRK1 ; xref: HGNC:10013 ; xref: OMIM:180381 ; xref: UNIPROTKB/SWISSPROT:Q15835 ; xref: ENSEMBL:ENSG00000185974] Gene [OrphaNum:118449 ; Name:S-antigen; retina and pineal gland (arrestin) ; Symbol:SAG ; xref: GENATLAS:SAG ; xref: HGNC:10521 ; xref: OMIM:181031 ; xref: UNIPROTKB/SWISSPROT:P10523 ; xref: ENSEMBL:ENSG00000130561] Oguchi's syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:613411 Oguchi's disease OMIM:258100 Congenital stationary night blindness, Oguchi type Orphanet ID- 11079 EXACT Oguchi's disease EXACT Oguchi's syndrome EXACT Congenital stationary night blindness, Oguchi type Brain malformation - congenital heart disease - postaxial polydactyly Goossens-Devriendt syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 Orphanet ID- 11080 Goossens-Devriendt syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Unknown; EXACT Goossens-Devriendt syndrome Immunodeficiency with natural-killer cell deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75391 Orphanet ID- 11081 Gene [OrphaNum:294681 ; Name:Minichromosome maintenance complex component 4 ; Symbol:MCM4 ; xref: OMIM:602638 ; xref: GENATLAS:MCM4 ; xref: UNIPROTKB/SWISSPROT:P33991 ; xref: HGNC:6947] OMIM:609981 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Ehlers-Danlos syndrome, periodontitis type EDS VIII Ehlers-Danlos syndrome type 8 Ehlers-Danlos syndrome type 8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EDS VIII Orphanet ID- 11082 ICD10:Q79.6 OMIM:130080 EXACT Ehlers-Danlos syndrome type 8 EXACT EDS VIII Ehlers-Danlos syndrome, progeroid type Defective biosynthesis of proteodermatan sulfate EDS, progeroid type Galactosyltransferase I deficiency PDS XGPT deficiency Xylosylprotein 4-beta-galactosyltransferase deficiency EDS, progeroid type Gene [OrphaNum:118966 ; Name:Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) ; Symbol:B4GALT7 ; xref: GENATLAS:B4GALT7 ; xref: HGNC:930 ; xref: OMIM:604327 ; xref: UNIPROTKB/SWISSPROT:Q9UBV7 ; xref: ENSEMBL:ENSG00000027847] Defective biosynthesis of proteodermatan sulfate Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 Galactosyltransferase I deficiency XGPT deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:130070 Xylosylprotein 4-beta-galactosyltransferase deficiency PDS Orphanet ID- 11083 ICD10:Q79.6 EXACT Defective biosynthesis of proteodermatan sulfate EXACT Xylosylprotein 4-beta-galactosyltransferase deficiency EXACT Galactosyltransferase I deficiency EXACT XGPT deficiency EXACT PDS EXACT EDS, progeroid type Ehlers-Danlos syndrome type 5 EDS V X-linked Ehlers-Danlos syndrome Orphanet ID- 11084 X-linked Ehlers-Danlos syndrome EDS V OMIM:305200 ICD10:Q79.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive; EXACT EDS V EXACT X-linked Ehlers-Danlos syndrome Ehlers-Danlos syndrome, fibronectinemic type EDS X Ehlers-Danlos syndrome type 10 Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality Ehlers-Danlos syndrome, fibronectin-deficient OMIM:225310 Ehlers-Danlos syndrome type 10 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 11085 ICD10:Q79.6 Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75501 Ehlers-Danlos syndrome, fibronectin-deficient EDS X EXACT Ehlers-Danlos syndrome, fibronectin-deficient EXACT EDS X EXACT Ehlers-Danlos syndrome type 10 EXACT Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality X-linked sideroblastic anemia Pyridoxine-responsive sideroblastic anemia Orphanet ID- 11087 Gene [OrphaNum:119573 ; Name:Aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) ; Symbol:ALAS2 ; xref: GENATLAS:ALAS2 ; xref: HGNC:397 ; xref: OMIM:301300 ; xref: UNIPROTKB/SWISSPROT:P22557 ; xref: ENSEMBL:ENSG00000158578 ; xref: REACTOME:P22557] OMIM:300751 ICD10:D64.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; Pyridoxine-responsive sideroblastic anemia EXACT Pyridoxine-responsive sideroblastic anemia SIBIDS syndrome Trichothiodystrophy - osteosclerosis ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75789 ICD10:Q78.2 ICD10:L67.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:Q80.8 Trichothiodystrophy - osteosclerosis Orphanet ID- 11092 EXACT Trichothiodystrophy - osteosclerosis Pollitt syndrome Trichorrhexis nodosa syndrome Trichothiodystrophy - neurocutaneous syndrome Trichothiodystrophy type C Trichothiodystrophy - neurocutaneous syndrome Orphanet ID- 11093 OMIM:275550 ICD10:L67.8 ICD10:Q87.1 Trichorrhexis nodosa syndrome Trichothiodystrophy type C Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75790 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Trichothiodystrophy - neurocutaneous syndrome EXACT Trichothiodystrophy type C EXACT Trichorrhexis nodosa syndrome Congenital muscular dystrophy, Ullrich type Scleroatonic muscular dystrophy UCMD Ullrich disease OMIM:254090 Ullrich disease prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:120736 ; Name:Collagen, type VI, alpha 3 ; Symbol:COL6A3 ; xref: GENATLAS:COL6A3 ; xref: HGNC:2213 ; xref: OMIM:120250 ; xref: UNIPROTKB/SWISSPROT:P12111 ; xref: REACTOME:P12111 ; xref: ENSEMBL:ENSG00000163359] ICD10:G71.2 Scleroatonic muscular dystrophy Orphanet ID- 11094 Gene [OrphaNum:120732 ; Name:Collagen, type VI, alpha 1 ; Symbol:COL6A1 ; xref: GENATLAS:COL6A1 ; xref: HGNC:2211 ; xref: OMIM:120220 ; xref: UNIPROTKB/SWISSPROT:P12109 ; xref: REACTOME:P12109 ; xref: ENSEMBL:ENSG00000142156] Gene [OrphaNum:120734 ; Name:Collagen, type VI, alpha 2 ; Symbol:COL6A2 ; xref: GENATLAS:COL6A2 ; xref: HGNC:2212 ; xref: OMIM:120240 ; xref: UNIPROTKB/SWISSPROT:P12110 ; xref: REACTOME:P12110 ; xref: ENSEMBL:ENSG00000142173] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 UCMD EXACT Ullrich disease EXACT UCMD EXACT Scleroatonic muscular dystrophy 6q terminal deletion ICD10:Q93.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 11095 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 MORM syndrome Intellectual deficit - truncal obesity - retinal dystrophy - micropenis Mental retardation - truncal obesity - retinal dystrophy - micropenis Mental retardation - truncal obesity - retinal dystrophy - micropenis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 Orphanet ID- 11096 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Intellectual deficit - truncal obesity - retinal dystrophy - micropenis Gene [OrphaNum:208347 ; Name:Inositol polyphosphate-5-phosphatase, 72 kDa ; Symbol:INPP5E ; xref: ENSEMBL:ENSG00000148384 ; xref: GENATLAS:INPP5E ; xref: HGNC:21474 ; xref: UNIPROTKB/SWISSPROT:Q9NRR6 ; xref: OMIM:613037] EXACT Intellectual deficit - truncal obesity - retinal dystrophy - micropenis EXACT Mental retardation - truncal obesity - retinal dystrophy - micropenis Primary lymphedema Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11097 Lymphedema tarda Orphanet ID- 11099 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77242 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lipedema prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77243 Orphanet ID- 11100 ICD10:E65 OMIM:614103 Trichorhinophalangeal syndrome type 1 and 3 ICD10:Q87.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:190351 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 Gene [OrphaNum:120307 ; Name:Trichorhinophalangeal syndrome I ; Symbol:TRPS1 ; xref: GENATLAS:TRPS1 ; xref: HGNC:12340 ; xref: OMIM:604386 ; xref: UNIPROTKB/SWISSPROT:Q9UHF7 ; xref: ENSEMBL:ENSG00000104447] OMIM:190350 Orphanet ID- 11101 Gaucher disease type 1 Noncerebral juvenile Gaucher disease ICD10:E75.2 OMIM:230800 Noncerebral juvenile Gaucher disease Orphanet ID- 11102 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 Gene [OrphaNum:122039 ; Name:'Glucosidase, beta; acid (includes glucosylceramidase)' ; Symbol:GBA ; xref: GENATLAS:GBA ; xref: HGNC:4177 ; xref: OMIM:606463 ; xref: UNIPROTKB/SWISSPROT:P04062 ; xref: ENSEMBL:ENSG00000177628 ; xref: REACTOME:P04062] prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:165923 ; Name:Scavenger receptor class B, member 2 ; Symbol:SCARB2 ; xref: GENATLAS:SCARB2 ; xref: HGNC:1665 ; xref: OMIM:602257 ; xref: UNIPROTKB/SWISSPROT:Q14108 ; xref: ENSEMBL:ENSG00000138760] EXACT Noncerebral juvenile Gaucher disease Gaucher disease type 2 Acute neuronopathic Gaucher disease Infantile cerebral Gaucher disease Infantile cerebral Gaucher disease OMIM:230900 Gene [OrphaNum:122039 ; Name:'Glucosidase, beta; acid (includes glucosylceramidase)' ; Symbol:GBA ; xref: GENATLAS:GBA ; xref: HGNC:4177 ; xref: OMIM:606463 ; xref: UNIPROTKB/SWISSPROT:P04062 ; xref: ENSEMBL:ENSG00000177628 ; xref: REACTOME:P04062] Orphanet ID- 11103 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; ICD10:E75.2 Acute neuronopathic Gaucher disease EXACT Acute neuronopathic Gaucher disease EXACT Infantile cerebral Gaucher disease Gaucher disease type 3 Cerebral juvenile and adult form of Gaucher disease Chronic neuronopathic Gaucher disease Gaucher disease, subacute neuronopathic type Orphanet ID- 11104 Cerebral juvenile and adult form of Gaucher disease OMIM:231000 Gene [OrphaNum:122039 ; Name:'Glucosidase, beta; acid (includes glucosylceramidase)' ; Symbol:GBA ; xref: GENATLAS:GBA ; xref: HGNC:4177 ; xref: OMIM:606463 ; xref: UNIPROTKB/SWISSPROT:P04062 ; xref: ENSEMBL:ENSG00000177628 ; xref: REACTOME:P04062] ICD10:E75.2 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gaucher disease, subacute neuronopathic type Chronic neuronopathic Gaucher disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 EXACT Cerebral juvenile and adult form of Gaucher disease EXACT Chronic neuronopathic Gaucher disease EXACT Gaucher disease, subacute neuronopathic type Niemann-Pick disease type A Gene [OrphaNum:119754 ; Name:Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) ; Symbol:SMPD1 ; xref: GENATLAS:SMPD1 ; xref: HGNC:11120 ; xref: OMIM:607608 ; xref: UNIPROTKB/SWISSPROT:P17405 ; xref: ENSEMBL:ENSG00000166311 ; xref: REACTOME:P17405] Orphanet ID- 11105 OMIM:257200 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 ICD10:E75.2 Niemann-Pick disease type B ICD10:E75.2 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; OMIM:607616 Gene [OrphaNum:119754 ; Name:Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) ; Symbol:SMPD1 ; xref: GENATLAS:SMPD1 ; xref: HGNC:11120 ; xref: OMIM:607608 ; xref: UNIPROTKB/SWISSPROT:P17405 ; xref: ENSEMBL:ENSG00000166311 ; xref: REACTOME:P17405] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 Orphanet ID- 11106 Odontoleukodystrophy Dentoleukoencephalopathy Leukodystrophy with oligodontia OMIM:607694 Leukodystrophy with oligodontia Dentoleukoencephalopathy Orphanet ID- 11107 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 ICD10:E75.2 Gene [OrphaNum:285106 ; Name:Polymerase (RNA) III (DNA directed) Polypeptide A, 155kDa ; Symbol:POLR3A ; xref: UNIPROTKB/SWISSPROT:O14802 ; xref: HGNC:30074 ; xref: OMIM:614258 ; xref: GENATLAS:POLR3A ; xref: REACTOME:O14802 ; xref: ENSEMBL:ENSG00000148606] ICD10:K00.0 EXACT Dentoleukoencephalopathy EXACT Leukodystrophy with oligodontia Morgagni-Stewart-Morel syndrome Hyperostosis frontalis interna OMIM:144800 Orphanet ID- 11108 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296 Hyperostosis frontalis interna EXACT Hyperostosis frontalis interna Majeed syndrome Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis Orphanet ID- 11109 Gene [OrphaNum:123109 ; Name:Lipin 2 ; Symbol:LPIN2 ; xref: GENATLAS:LPIN2 ; xref: HGNC:14450 ; xref: OMIM:605519 ; xref: UNIPROTKB/SWISSPROT:Q92539 ; xref: REACTOME:Q92539 ; xref: ENSEMBL:ENSG00000101577] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 OMIM:609628 EXACT Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis Anophthalmia/microphthalmia - esophageal atresia MCOPS3 Syndromic microphthalmia type 3 Gene [OrphaNum:119790 ; Name:SRY (sex determining region Y)-box 2 ; Symbol:SOX2 ; xref: GENATLAS:SOX2 ; xref: HGNC:11195 ; xref: OMIM:184429 ; xref: UNIPROTKB/SWISSPROT:P48431 ; xref: ENSEMBL:ENSG00000181449] MCOPS3 OMIM:206900 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Sporadic; ICD10:Q11.2 Syndromic microphthalmia type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 Orphanet ID- 11110 EXACT MCOPS3 EXACT Syndromic microphthalmia type 3 Microphthalmia - brain atrophy MCOPS10 MOBA syndrome Syndromic microphthalmia type 10 OMIM:611222 Orphanet ID- 11111 Syndromic microphthalmia type 10 ICD10:Q11.2 MOBA syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; MCOPS10 EXACT Syndromic microphthalmia type 10 EXACT MOBA syndrome EXACT MCOPS10 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 Orphanet ID- 11112 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Monosomy 9q22.3 Microdeletion 9q22.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; Microdeletion 9q22.3 Orphanet ID- 11113 ICD10:Q93.5 EXACT Microdeletion 9q22.3 Oculo-oto-facial dysplasia OMIM:610332 Orphanet ID- 11114 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77302 Common variable immunodeficiency due to an intrinsic B cell defect CVID due to an intrinsic B cell defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77303 OMIM:614700 Gene [OrphaNum:119235 ; Name:CD19 molecule ; Symbol:CD19 ; xref: GENATLAS:CD19 ; xref: HGNC:1633 ; xref: OMIM:107265 ; xref: UNIPROTKB/SWISSPROT:P15391 ; xref: ENSEMBL:ENSG00000177455 ; xref: REACTOME:P15391] Gene [OrphaNum:160142 ; Name:Complement component (3d/Epstein Barr virus) receptor 2 ; Symbol:CR2 ; xref: GENATLAS:CR2 ; xref: HGNC:2336 ; xref: OMIM:120650 ; xref: UNIPROTKB/SWISSPROT:P20023 ; xref: ENSEMBL:ENSG00000117322] prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:613496 Orphanet ID- 11115 CVID due to an intrinsic B cell defect OMIM:614699 Gene [OrphaNum:303168 ; Name:LPS-responsive vesicle trafficking, beach and anchor containing ; Symbol:LRBA ; xref: HGNC:1742 ; xref: OMIM:606453 ; xref: GENATLAS:LRBA ; xref: UNIPROTKB/SWISSPROT:P50851] Gene [OrphaNum:235199 ; Name:CD81 molecule ; Symbol:CD81 ; xref: REACTOME:P60033 ; xref: ENSEMBL:ENSG00000110651 ; xref: HGNC:1701 ; xref: GENATLAS:CD81 ; xref: OMIM:186845 ; xref: UNIPROTKB/SWISSPROT:P60033] OMIM:613493 EXACT CVID due to an intrinsic B cell defect Not NOTCH3-related small vessel disease of the brain ICD10:I67.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77304 ICD10:F01.1 Orphanet ID- 11116 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Unknown; Genetic obesity prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11118 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77828 Rare genetic odontologic disease Orphanet ID- 11120 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77830 Simpson-Golabi-Behmel syndrome type 2 Lethal variant of Simpson-Golabi-Behmel syndrome SGBS2 ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79022 OMIM:300209 Orphanet ID- 11123 Lethal variant of Simpson-Golabi-Behmel syndrome SGBS2 Gene [OrphaNum:123982 ; Name:Oral-facial-digital syndrome 1 ; Symbol:OFD1 ; xref: GENATLAS:OFD1 ; xref: HGNC:2567 ; xref: OMIM:300170 ; xref: UNIPROTKB/SWISSPROT:O75665 ; xref: REACTOME:O75665 ; xref: ENSEMBL:ENSG00000046651] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Lethal variant of Simpson-Golabi-Behmel syndrome EXACT SGBS2 Disorder of amino acid and other organic acid metabolism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11124 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062 Juvenile polyposis of infancy Infantile juvenile polyposis syndrome Infantile juvenile polyposis syndrome OMIM:612242 Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:119048 ; Name:Bone morphogenetic protein receptor, type IA ; Symbol:BMPR1A ; xref: GENATLAS:BMPR1A ; xref: HGNC:1076 ; xref: OMIM:601299 ; xref: UNIPROTKB/SWISSPROT:P36894 ; xref: REACTOME:P36894 ; xref: ENSEMBL:ENSG00000107779] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 Orphanet ID- 11125 EXACT Infantile juvenile polyposis syndrome Familial partial lipodystrophy associated with PPARG mutations FPLD3 Familial partial lipodystrophy type 3 ICD10:E88.1 Gene [OrphaNum:117964 ; Name:Peroxisome proliferator-activated receptor gamma ; Symbol:PPARG ; xref: GENATLAS:PPARG ; xref: HGNC:9236 ; xref: OMIM:601487 ; xref: UNIPROTKB/SWISSPROT:P37231 ; xref: IUPHAR:595 ; xref: ENSEMBL:ENSG00000132170 ; xref: REACTOME:P37231] prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Familial partial lipodystrophy type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 OMIM:604367 FPLD3 Orphanet ID- 11127 EXACT Familial partial lipodystrophy type 3 EXACT FPLD3 Familial partial lipodystrophy, Köbberling type FPLD1 Familial partial lipodystrophy type 1 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Familial partial lipodystrophy type 1 OMIM:608600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 FPLD1 ICD10:E88.1 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Orphanet ID- 11128 EXACT FPLD1 EXACT Familial partial lipodystrophy type 1 Familial partial lipodystrophy due to AKT2 mutations prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 Orphanet ID- 11129 Gene [OrphaNum:201112 ; Name:V-akt murine thymoma viral oncogene homolog 2 ; Symbol:AKT2 ; xref: REACTOME:P31751 ; xref: ENSEMBL:ENSG00000105221 ; xref: GENATLAS:AKT2 ; xref: HGNC:392 ; xref: OMIM:164731 ; xref: UNIPROTKB/SWISSPROT:P31751] ICD10:E88.1 Acquired generalized lipodystrophy Acquired lipoatrophic diabetes Lawrence syndrome Lawrence-Seip syndrome Lawrence syndrome Lawrence-Seip syndrome Acquired lipoatrophic diabetes Orphanet ID- 11130 ICD10:E88.1 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79086 EXACT Lawrence-Seip syndrome EXACT Lawrence syndrome EXACT Acquired lipoatrophic diabetes Partial acquired lipodystrophy Barraquer-Simons syndrome Progressive cephalothoracic lipodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79087 OMIM:608709 Progressive cephalothoracic lipodystrophy ICD10:E88.1 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:221339 ; Name:Lamin B2 ; Symbol:LMNB2 ; xref: ENSEMBL:ENSG00000176619 ; xref: GENATLAS:LMNB2 ; xref: HGNC:6638 ; xref: OMIM:150341 ; xref: UNIPROTKB/SWISSPROT:Q03252] Orphanet ID- 11131 Barraquer-Simons syndrome EXACT Progressive cephalothoracic lipodystrophy EXACT Barraquer-Simons syndrome Localized lipodystrophy Orphanet ID- 11132 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79088 Lipodystrophy in Human Immunodeficiency Virus-infected patients Lipodystrophy-HIV related Lipodystrophy-HIV related ICD10:B23.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79089 prevalence- 1 / 1000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 11133 EXACT Lipodystrophy-HIV related Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia IBM3 Inclusion body myopathy type 3 Orphanet ID- 11134 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091 ICD10:G71.8 OMIM:605637 Inclusion body myopathy type 3 IBM3 Gene [OrphaNum:123615 ; Name:Myosin, heavy chain 2, skeletal muscle, adult ; Symbol:MYH2 ; xref: GENATLAS:MYH2 ; xref: HGNC:7572 ; xref: OMIM:160740 ; xref: UNIPROTKB/SWISSPROT:Q9UKX2 ; xref: ENSEMBL:ENSG00000125414] EXACT Inclusion body myopathy type 3 EXACT IBM3 Foix-Alajouanine syndrome Angiodysgenetic necrotizing myelopathy Spinal arteriovenous malformation Subacute angiohypertrophic myelomalacia Subacute ascending necrotizing myelitis Subacute necrotizing myelitis Subacute angiohypertrophic myelomalacia Subacute necrotizing myelitis Angiodysgenetic necrotizing myelopathy ICD10:G37.4 Orphanet ID- 11135 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Spinal arteriovenous malformation Subacute ascending necrotizing myelitis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093 EXACT Subacute angiohypertrophic myelomalacia EXACT Angiodysgenetic necrotizing myelopathy EXACT Subacute necrotizing myelitis EXACT Spinal arteriovenous malformation EXACT Subacute ascending necrotizing myelitis Grange syndrome Grange occlusive arterial syndrome Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 OMIM:602531 Orphanet ID- 11136 Grange occlusive arterial syndrome Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Grange occlusive arterial syndrome EXACT Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly Congenital bile acid synthesis defect type 4 2-methylacyl-CoA racemase deficiency AMACR deficiency Alpha-methyl-acyl-CoA racemase deficiency Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy OMIM:214950 2-methylacyl-CoA racemase deficiency Gene [OrphaNum:159633 ; Name:Alpha-methylacyl-CoA racemase ; Symbol:AMACR ; xref: GENATLAS:AMACR ; xref: HGNC:451 ; xref: OMIM:604489 ; xref: UNIPROTKB/SWISSPROT:Q9UHK6 ; xref: REACTOME:Q9UHK6 ; xref: ENSEMBL:ENSG00000242110] prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Alpha-methyl-acyl-CoA racemase deficiency Orphanet ID- 11137 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 OMIM:614307 AMACR deficiency Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy ICD10:K76.8 EXACT Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy EXACT AMACR deficiency EXACT Alpha-methyl-acyl-CoA racemase deficiency EXACT 2-methylacyl-CoA racemase deficiency Pyridoxal phosphate-responsive seizures PNPO deficiency PNPO-related neonatal epileptic encephalopathy Pyridoxa-phosphate dependent seizures Pyridoxamine 5'-phosphate oxidase deficiency Pyridoxamine 5´-oxidase deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Pyridoxa-phosphate dependent seizures Orphanet ID- 11138 ICD10:G40.8 Pyridoxamine 5´-oxidase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 OMIM:610090 Gene [OrphaNum:160333 ; Name:Pyridoxamine 5'-phosphate oxidase ; Symbol:PNPO ; xref: GENATLAS:PNPO ; xref: HGNC:30260 ; xref: OMIM:603287 ; xref: UNIPROTKB/SWISSPROT:Q9NVS9 ; xref: ENSEMBL:ENSG00000108439 ; xref: REACTOME:Q9NVS9] Pyridoxamine 5'-phosphate oxidase deficiency PNPO deficiency PNPO-related neonatal epileptic encephalopathy EXACT Pyridoxamine 5´-oxidase deficiency EXACT PNPO deficiency EXACT Pyridoxamine 5'-phosphate oxidase deficiency EXACT Pyridoxa-phosphate dependent seizures EXACT PNPO-related neonatal epileptic encephalopathy Folinic acid-responsive seizures Orphanet ID- 11139 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Distal monosomy 3p Distal 3p deletion Monosomy 3pter Telomeric monosomy 3p Telomeric monosomy 3p Gene [OrphaNum:120811 ; Name:Cereblon ; Symbol:CRBN ; xref: GENATLAS:CRBN ; xref: HGNC:30185 ; xref: OMIM:609262 ; xref: UNIPROTKB/SWISSPROT:Q96SW2 ; xref: ENSEMBL:ENSG00000113851] Gene [OrphaNum:166392 ; Name:Contactin 4 ; Symbol:CNTN4 ; xref: GENATLAS:CNTN4 ; xref: HGNC:2174 ; xref: OMIM:607280 ; xref: UNIPROTKB/SWISSPROT:Q8IWV2 ; xref: ENSEMBL:ENSG00000144619] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:613792 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 Distal 3p deletion Monosomy 3pter Orphanet ID- 1114 Gene [OrphaNum:166396 ; Name:Cell adhesion molecule with homology to L1CAM (close homolog of L1) ; Symbol:CHL1 ; xref: GENATLAS:CHL1 ; xref: HGNC:1939 ; xref: OMIM:607416 ; xref: UNIPROTKB/SWISSPROT:O00533 ; xref: REACTOME:O00533 ; xref: ENSEMBL:ENSG00000134121] EXACT Telomeric monosomy 3p EXACT Monosomy 3pter EXACT Distal 3p deletion Atrophoderma vermiculata Folliculitis ulerythematosa reticulate prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; OMIM:209700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 Folliculitis ulerythematosa reticulate Orphanet ID- 11142 EXACT Folliculitis ulerythematosa reticulate Hyperprolinemia type II Delta1-pyrroline-5-carboxylate dehydrogenase deficiency Orphanet ID- 11143 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 OMIM:239510 ICD10:E72.5 Delta1-pyrroline-5-carboxylate dehydrogenase deficiency prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119588 ; Name:Aldehyde dehydrogenase 4 family, member A1 ; Symbol:ALDH4A1 ; xref: GENATLAS:ALDH4A1 ; xref: HGNC:406 ; xref: OMIM:606811 ; xref: UNIPROTKB/SWISSPROT:P30038 ; xref: REACTOME:P30038 ; xref: ENSEMBL:ENSG00000159423] EXACT Delta1-pyrroline-5-carboxylate dehydrogenase deficiency Thyrotoxic periodic paralysis Thyrotoxic hypokalemic periodic paralysis true Orphanet ID- 11144 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79102 Gene [OrphaNum:119157 ; Name:Calcium channel, voltage-dependent, L type, alpha 1S subunit ; Symbol:CACNA1S ; xref: OMIM:114208 ; xref: UNIPROTKB/SWISSPROT:Q13698 ; xref: GENATLAS:CACNA1S ; xref: HGNC:1397 ; xref: REACTOME:Q13698 ; xref: IUPHAR:528 ; xref: ENSEMBL:ENSG00000081248] OMIM:188580 Thyrotoxic hypokalemic periodic paralysis OMIM:613239 Gene [OrphaNum:199890 ; Name:Gamma-aminobutyric acid (GABA) A receptor, alpha 3 ; Symbol:GABRA3 ; xref: ENSEMBL:ENSG00000011677 ; xref: IUPHAR:406 ; xref: REACTOME:P34903 ; xref: GENATLAS:GABRA3 ; xref: HGNC:4077 ; xref: OMIM:305660 ; xref: UNIPROTKB/SWISSPROT:P34903] ICD10:G72.3 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic; EXACT Thyrotoxic hypokalemic periodic paralysis Eiken syndrome Orphanet ID- 11148 OMIM:600002 Gene [OrphaNum:118140 ; Name:Parathyroid hormone 1 receptor ; Symbol:PTH1R ; xref: OMIM:168468 ; xref: UNIPROTKB/SWISSPROT:Q03431 ; xref: HGNC:9608 ; xref: GENATLAS:PTH1R ; xref: ENSEMBL:ENSG00000160801 ; xref: IUPHAR:331 ; xref: REACTOME:Q03431] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Developmental malformations - deafness - dystonia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; OMIM:607371 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 Gene [OrphaNum:159893 ; Name:Actin, beta ; Symbol:ACTB ; xref: GENATLAS:ACTB ; xref: HGNC:132 ; xref: OMIM:102630 ; xref: UNIPROTKB/SWISSPROT:P60709 ; xref: REACTOME:P60709 ; xref: ENSEMBL:ENSG00000075624] Orphanet ID- 11149 3q13 microdeletion syndrome Del(3)(q13) Monosomy 3q13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621 Orphanet ID- 1115 ICD10:Q93.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Del(3)(q13) Monosomy 3q13 EXACT Del(3)(q13) EXACT Monosomy 3q13 Mandibulofacial dysostosis-microcephaly syndrome Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 Orphanet ID- 11150 Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; OMIM:610536 Gene [OrphaNum:292410 ; Name:Elongation factor Tu GTP binding domain containing 2 ; Symbol:EFTUD2 ; xref: HGNC:30858 ; xref: OMIM:603892 ; xref: GENATLAS:EFTUD2 ; xref: UNIPROTKB/SWISSPROT:Q15029] EXACT Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys Orphanet ID- 11151 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Gene [OrphaNum:165848 ; Name:GLIS family zinc finger 3 ; Symbol:GLIS3 ; xref: UNIPROTKB/SWISSPROT:Q8NEA6 ; xref: GENATLAS:GLIS3 ; xref: HGNC:28510 ; xref: OMIM:610192 ; xref: ENSEMBL:ENSG00000107249] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118 OMIM:610199 Hepatic veno-occlusive disease - immunodeficiency VODI syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:K76.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 Orphanet ID- 11152 Gene [OrphaNum:119797 ; Name:SP110 nuclear body protein ; Symbol:SP110 ; xref: GENATLAS:SP110 ; xref: HGNC:5401 ; xref: OMIM:604457 ; xref: UNIPROTKB/SWISSPROT:Q9HB58 ; xref: ENSEMBL:ENSG00000135899] OMIM:235550 VODI syndrome EXACT VODI syndrome Trichodysplasia - amelogenesis imperfecta prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11156 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 Sparse hair - short stature - skin anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79132 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 11158 Focal facial dermal dysplasia Bitemporal aplasia cutis congenital Brauer syndrome FFDD type I Hereditary symmetrical aplastic nevi of temples prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Bitemporal aplasia cutis congenital Orphanet ID- 11159 FFDD type I Hereditary symmetrical aplastic nevi of temples Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133 OMIM:136500 Brauer syndrome EXACT Bitemporal aplasia cutis congenital EXACT Brauer syndrome EXACT FFDD type I EXACT Hereditary symmetrical aplastic nevi of temples DEND syndrome Developmental delay - epilepsy - neonatal diabetes Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654] Developmental delay - epilepsy - neonatal diabetes prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 OMIM:606176 Orphanet ID- 11160 EXACT Developmental delay - epilepsy - neonatal diabetes Episodic ataxia type 3 OMIM:606554 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135 ICD10:G11.8 Orphanet ID- 11161 Episodic ataxia type 4 PATX Periodic vestibulocerebellar ataxia Orphanet ID- 11162 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; PATX ICD10:G11.8 Periodic vestibulocerebellar ataxia OMIM:606552 EXACT Periodic vestibulocerebellar ataxia EXACT PATX Generalized epilepsy - paroxysmal dyskinesia GEPD prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 11163 Gene [OrphaNum:122795 ; Name:Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 ; Symbol:KCNMA1 ; xref: GENATLAS:KCNMA1 ; xref: HGNC:6284 ; xref: OMIM:600150 ; xref: UNIPROTKB/SWISSPROT:Q12791 ; xref: IUPHAR:380 ; xref: ENSEMBL:ENSG00000156113 ; xref: REACTOME:Q12791] OMIM:609446 GEPD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 EXACT GEPD Hereditary painful callosities Keratosis palmoplantaris nummularis Orphanet ID- 11167 prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Keratosis palmoplantaris nummularis OMIM:114140 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141 ICD10:Q82.8 EXACT Keratosis palmoplantaris nummularis Familial Dupuytren contracture Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79142 Orphanet ID- 11168 OMIM:126900 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital anonychia Anonychia prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Anonychia Orphanet ID- 11169 OMIM:206800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143 Gene [OrphaNum:118419 ; Name:R-spondin family, member 4 ; Symbol:RSPO4 ; xref: GENATLAS:RSPO4 ; xref: HGNC:16175 ; xref: OMIM:610573 ; xref: UNIPROTKB/SWISSPROT:Q2I0M5 ; xref: ENSEMBL:ENSG00000101282] OMIM:107000 ICD10:Q84.3 EXACT Anonychia Congenital onychodysplasia COIF COIF syndrome Congenital onychodysplasia of the index fingers Iso-Kikuchi syndrome Orphanet ID- 11170 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79144 COIF syndrome COIF Iso-Kikuchi syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital onychodysplasia of the index fingers OMIM:219070 EXACT COIF syndrome EXACT Congenital onychodysplasia of the index fingers EXACT Iso-Kikuchi syndrome EXACT COIF Dowling-Degos disease Reticular pigment anomaly of flexures Orphanet ID- 11171 Gene [OrphaNum:122913 ; Name:Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ; Symbol:KRT5 ; xref: GENATLAS:KRT5 ; xref: HGNC:6442 ; xref: OMIM:148040 ; xref: UNIPROTKB/SWISSPROT:P13647 ; xref: ENSEMBL:ENSG00000186081 ; xref: REACTOME:P13647] prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:179850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 Reticular pigment anomaly of flexures EXACT Reticular pigment anomaly of flexures Familial progressive hyperpigmentation Melanosis diffusa congenita Melanosis universalis hereditaria Universal melanosis Melanosis diffusa congenita Orphanet ID- 11172 Melanosis universalis hereditaria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 OMIM:155800 Gene [OrphaNum:201509 ; Name:KIT ligand ; Symbol:KITLG ; xref: ENSEMBL:ENSG00000049130 ; xref: REACTOME:P21583 ; xref: GENATLAS:KITLG ; xref: HGNC:6343 ; xref: OMIM:184745 ; xref: UNIPROTKB/SWISSPROT:P21583] Universal melanosis OMIM:614233 OMIM:145250 EXACT Melanosis diffusa congenita EXACT Melanosis universalis hereditaria EXACT Universal melanosis Familial reactive perforating collagenosis Orphanet ID- 11173 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147 OMIM:216700 Dermochondrocorneal dystrophy Francois syndrome OMIM:221800 Orphanet ID- 11175 Francois syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; EXACT Francois syndrome Linear and whorled nevoid hypermelanosis Orphanet ID- 11176 OMIM:614323 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Acrokeratosis verruciformis of Hopf prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 Gene [OrphaNum:118844 ; Name:ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ; Symbol:ATP2A2 ; xref: GENATLAS:ATP2A2 ; xref: HGNC:812 ; xref: OMIM:108740 ; xref: UNIPROTKB/SWISSPROT:P16615 ; xref: ENSEMBL:ENSG00000174437 ; xref: REACTOME:P16615] Orphanet ID- 11177 OMIM:101900 Disseminated superficial actinic porokeratosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:159203 ; Name:Squamous cell carcinoma antigen recognized by T cells 3 ; Symbol:SART3 ; xref: GENATLAS:SART3 ; xref: HGNC:16860 ; xref: OMIM:611684 ; xref: UNIPROTKB/SWISSPROT:Q15020 ; xref: ENSEMBL:ENSG00000075856] Orphanet ID- 11178 OMIM:612293 OMIM:612353 OMIM:175900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 OMIM:607728 Autosomal dominant nail dysplasia Onychodystrophy totalis Twenty-nail dystrophy Onychodystrophy totalis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Twenty-nail dystrophy OMIM:161050 Orphanet ID- 11179 EXACT Onychodystrophy totalis EXACT Twenty-nail dystrophy 2-aminoadipic aciduria alpha-aminoadipic aciduria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E72.3 alpha-aminoadipic aciduria Orphanet ID- 11180 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 OMIM:204750 EXACT alpha-aminoadipic aciduria Encephalopathy due to hydroxykynureninuria Kynureninase deficiency Xanthurenic aciduria Xanthurenic aciduria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 ICD10:E70.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Kynureninase deficiency Orphanet ID- 11181 Gene [OrphaNum:168099 ; Name:Kynureninase (L-kynurenine hydrolase) ; Symbol:KYNU ; xref: GENATLAS:KYNU ; xref: HGNC:6469 ; xref: OMIM:605197 ; xref: UNIPROTKB/SWISSPROT:Q16719 ; xref: ENSEMBL:ENSG00000115919 ; xref: REACTOME:Q16719] OMIM:236800 EXACT Kynureninase deficiency EXACT Xanthurenic aciduria Seizures - intellectual deficit due to hydroxylysinuria Orphanet ID- 11182 ICD10:E72.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:236900 2-methylbutyryl-CoA dehydrogenase deficiency 2-methylbutyric aciduria Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency SBCAD deficiency Short/branched-chain acyl-coA dehydrogenase deficiency OMIM:610006 Orphanet ID- 11183 2-methylbutyric aciduria Gene [OrphaNum:117709 ; Name:Acyl-Coenzyme A dehydrogenase, short/branched chain ; Symbol:ACADSB ; xref: GENATLAS:ACADSB ; xref: HGNC:91 ; xref: OMIM:600301 ; xref: UNIPROTKB/SWISSPROT:P45954 ; xref: ENSEMBL:ENSG00000196177 ; xref: REACTOME:P45954] Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency SBCAD deficiency Short/branched-chain acyl-coA dehydrogenase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:E71.1 EXACT 2-methylbutyric aciduria EXACT Short/branched-chain acyl-coA dehydrogenase deficiency EXACT SBCAD deficiency EXACT Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency Cerebral organic aciduria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158 Orphanet ID- 11184 Isobutyryl-CoA dehydrogenase deficiency Isobutyric aciduria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 OMIM:611283 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 11185 Gene [OrphaNum:123336 ; Name:acyl-Coenzyme A dehydrogenase family, member 8 ; Symbol:ACAD8 ; xref: GENATLAS:ACAD8 ; xref: HGNC:87 ; xref: OMIM:604773 ; xref: UNIPROTKB/SWISSPROT:Q9UKU7 ; xref: ENSEMBL:ENSG00000151498 ; xref: REACTOME:Q9UKU7] ICD10:E71.1 Isobutyric aciduria EXACT Isobutyric aciduria Carbohydrate metabolism disorder Orphanet ID- 11187 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161 Classical organic aciduria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11189 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163 Amino acid transport disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11192 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166 Disorder of urea cycle metabolism and inherited hyperammonemia Orphanet ID- 11193 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Anomaly of bile acid synthesis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11194 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168 Biogenic amine metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11195 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169 Biotin metabolism disorder Orphanet ID- 11196 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79170 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cobalamin metabolism disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171 Orphanet ID- 11197 Creatine biosynthesis disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11198 Disorder of methionine cycle and sulfur amino acid metabolism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11199 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173 Metachromatic leukodystrophy Arylsulfatase A deficiency MLD OMIM:249900 Arylsulfatase A deficiency Orphanet ID- 112 OMIM:156310 MLD Gene [OrphaNum:121427 ; Name:Arylsulfatase A ; Symbol:ARSA ; xref: GENATLAS:ARSA ; xref: HGNC:713 ; xref: OMIM:607574 ; xref: UNIPROTKB/SWISSPROT:P15289 ; xref: ENSEMBL:ENSG00000100299 ; xref: REACTOME:P15289] Gene [OrphaNum:118095 ; Name:Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) ; Symbol:PSAP ; xref: GENATLAS:PSAP ; xref: HGNC:9498 ; xref: OMIM:176801 ; xref: UNIPROTKB/SWISSPROT:P07602 ; xref: REACTOME:P07602 ; xref: ENSEMBL:ENSG00000197746] ICD10:E75.2 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 OMIM:250100 EXACT MLD EXACT Arylsulfatase A deficiency Fatty acid oxidation or ketogenesis disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11200 GABA metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11201 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175 Galactose or fructose metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79176 Orphanet ID- 11202 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gluconeogenesis disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11203 Glucose transport disorder Orphanet ID- 11204 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Glycerol metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11205 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179 Disorder of histidine metabolism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11207 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181 Intracellular cobalamin metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79182 Orphanet ID- 11208 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ketolysis disorder Orphanet ID- 11209 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Distal monosomy 5q Distal 5q deletion Monosomy 5qter Telomeric 5q deletion Telomeric 5q deletion Monosomy 5qter Distal 5q deletion prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627 ICD10:Q93.5 Orphanet ID- 1121 EXACT Distal 5q deletion EXACT Monosomy 5qter EXACT Telomeric 5q deletion Lysine or tryptophan metabolism disorder Orphanet ID- 11210 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79184 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ornithine or proline metabolism disorder Orphanet ID- 11211 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pentose metabolism disorder Orphanet ID- 11212 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Peptide metabolism disorder Orphanet ID- 11213 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187 Peroxisomal beta-oxidation disorder Orphanet ID- 11214 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188 Peroxisome biogenesis disorder Orphanet ID- 11215 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 Phenylalanin or tyrosine metabolism disorder Orphanet ID- 11216 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190 Purine metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11217 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191 Pyridoxine metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192 Orphanet ID- 11218 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pyrimidine metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193 Orphanet ID- 11219 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Serine or glycine metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194 Orphanet ID- 11220 Sterol biosynthesis disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195 Orphanet ID- 11221 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Disorder of the gamma-glutamyl cycle prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196 Orphanet ID- 11222 Disorder of branched-chain amino acid metabolism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11223 Metal transport or utilisation disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79198 Orphanet ID- 11224 Energy metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11226 Glycogen storage disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11227 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201 Lipid storage disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204 Orphanet ID- 11230 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lysosomal transport defect Orphanet ID- 11233 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Miscellanous metabolic disease with mostly hepatic presentation Orphanet ID- 11234 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79208 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Metabolic disease associated with a progressive neurological disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11235 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79209 Mixed hyperlipidemia A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1. A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1.[accessedResource: MSH:D006950][accessDate: 05-04-2011] Combined Hyperlipidemia, Familial Combined Hyperlipidemia, Familial[accessedResource: MSH:D006950][accessDate: 05-04-2011] Combined Hyperlipidemias, Familial Combined Hyperlipidemias, Familial[accessedResource: MSH:D006950][accessDate: 05-04-2011] DOID:13809 FCHL - Familial combined hyperlipidaemia FCHL - Familial combined hyperlipidaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] FCHL - Familial combined hyperlipidemia FCHL - Familial combined hyperlipidemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial Combined Hyperlipidemias Familial Combined Hyperlipidemias[accessedResource: MSH:D006950][accessDate: 05-04-2011] Familial combined hyperlipidaemia Familial combined hyperlipidaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial hyperlipoproteinaemia type IIb Familial hyperlipoproteinaemia type IIb[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial hyperlipoproteinemia type IIb Familial hyperlipoproteinemia type IIb[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Familial multiple lipoprotein-type hyperlipidaemia Familial multiple lipoprotein-type hyperlipidaemia[accessedResource: SNOMEDCT:299465007][accessDate: 05-04-2011] Familial multiple lipoprotein-type hyperlipidemia Familial multiple lipoprotein-type hyperlipidemia[accessedResource: SNOMEDCT:299465007][accessDate: 05-04-2011] Fredrickson type IIb hyperlipoproteinaemia Fredrickson type IIb hyperlipoproteinaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Fredrickson type IIb hyperlipoproteinemia Fredrickson type IIb hyperlipoproteinemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] GeneRIF:11979403 GeneRIF:12006395 GeneRIF:12370850 GeneRIF:12401883 GeneRIF:12468272 GeneRIF:12738753 GeneRIF:14680975 GeneRIF:14991056 GeneRIF:15136067 GeneRIF:15959806 GeneRIF:15976322 GeneRIF:16076849 Hyperapobetalipoproteinaemia Hyperapobetalipoproteinaemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Hyperapobetalipoproteinemia Hyperapobetalipoproteinemia[accessedResource: SNOMEDCT:238040008][accessDate: 05-04-2011] Hyperlipidemia, Familial Combined Hyperlipidemia, Familial Combined[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemia, Multiple Lipoprotein Type Hyperlipidemia, Multiple Lipoprotein Type[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemia, Multiple Lipoprotein-Type Hyperlipidemia, Multiple Lipoprotein-Type[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemias, Familial Combined Hyperlipidemias, Familial Combined[accessedResource: MSH:D006950][accessDate: 05-04-2011] Hyperlipidemias, Multiple Lipoprotein-Type Hyperlipidemias, Multiple Lipoprotein-Type[accessedResource: MSH:D006950][accessDate: 05-04-2011] ICD9:272.2 James Malone Lipoprotein-Type Hyperlipidemia, Multiple Lipoprotein-Type Hyperlipidemia, Multiple[accessedResource: MSH:D006950][accessDate: 05-04-2011] Lipoprotein-Type Hyperlipidemias, Multiple Lipoprotein-Type Hyperlipidemias, Multiple[accessedResource: MSH:D006950][accessDate: 05-04-2011] MSH:D006950 Mixed hyperlipidaemia Mixed hyperlipidemia (disorder) Mixed hyperlipidemia[accessedResource: ICD9:272.2][accessDate: 05-04-2011] Multiple Lipoprotein-Type Hyperlipidemia Multiple Lipoprotein-Type Hyperlipidemia[accessedResource: MSH:D006950][accessDate: 05-04-2011] Multiple Lipoprotein-Type Hyperlipidemias Multiple Lipoprotein-Type Hyperlipidemias[accessedResource: MSH:D006950][accessDate: 05-04-2011] Multiple-type hyperlipidaemia Multiple-type hyperlipidaemia[accessedResource: SNOMEDCT:267434003][accessDate: 05-04-2011] Multiple-type hyperlipidemia Multiple-type hyperlipidemia[accessedResource: SNOMEDCT:267434003][accessDate: 05-04-2011] OMIM:144250 SNOMEDCT:238040008 SNOMEDCT:267434003 SNOMEDCT:299465007 familial combined hyperlipidemia (disorder) familial combined hyperlipidemia (disorder) [Ambiguous] familial combined hyperlipidemia (disorder) [Ambiguous][accessedResource: DOID:13809][accessDate: 05-04-2011] familial combined hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011] familial multiple lipoprotein-type hyperlipidemia (disorder) familial multiple lipoprotein-type hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011] hyperbetalipoproteinemia with prebetalipoproteinemia hyperbetalipoproteinemia with prebetalipoproteinemia[accessedResource: DOID:13809][accessDate: 05-04-2011] mixed hyperlipidaemia[accessedResource: DOID:13809][accessDate: 05-04-2011] mixed hyperlipidemia (disorder)[accessedResource: DOID:13809][accessDate: 05-04-2011] type IIb hyperlipoproteinemia type IIb hyperlipoproteinemia[accessedResource: DOID:13809][accessDate: 05-04-2011] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79211 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11237 Mucolipidosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11238 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212 Mucopolysaccharidosis Orphanet ID- 11239 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 Metabolic neurotransmission anomaly Orphanet ID- 11240 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214 Oligosaccharidosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11241 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215 Other metabolic disease with skin involvement Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79217 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11243 Metabolic disease involving other neurotransmitter deficiency Orphanet ID- 11245 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 Unclassified peroxisomal enzyme defect prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11246 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79220 Unclassified lysosomal disease Orphanet ID- 11247 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79221 Protein glycosylation disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79223 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11249 Purine or pyrimidine metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224 Orphanet ID- 11250 Sphingolipidosis Orphanet ID- 11251 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225 Sterol metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11252 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226 Hemochromatosis type 2 Juvenile hemochromatosis ICD10:E83.1 Orphanet ID- 11256 Gene [OrphaNum:122364 ; Name:Hepcidin antimicrobial peptide ; Symbol:HAMP ; xref: GENATLAS:HAMP ; xref: HGNC:15598 ; xref: OMIM:606464 ; xref: UNIPROTKB/SWISSPROT:P81172 ; xref: ENSEMBL:ENSG00000105697] Gene [OrphaNum:123414 ; Name:Hemochromatosis type 2 (juvenile) gene ; Symbol:HFE2 ; xref: OMIM:608374 ; xref: UNIPROTKB/SWISSPROT:Q6ZVN8 ; xref: GENATLAS:HFE2 ; xref: HGNC:4887 ; xref: REACTOME:Q6ZVN8 ; xref: ENSEMBL:ENSG00000168509] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; Juvenile hemochromatosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 OMIM:602390 OMIM:613313 EXACT Juvenile hemochromatosis Kelley-Seegmiller syndrome HPRT deficiency, grade I HPRT partial deficiency HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency, grade I Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency Gene [OrphaNum:122476 ; Name:Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) ; Symbol:HPRT1 ; xref: REACTOME:P00492 ; xref: HGNC:5157 ; xref: OMIM:308000 ; xref: UNIPROTKB/SWISSPROT:P00492 ; xref: GENATLAS:HPRT1 ; xref: ENSEMBL:ENSG00000165704] Hypoxanthine guanine phosphoribosyltransferase partial deficiency ICD10:E79.8 Orphanet ID- 11259 HPRT partial deficiency prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- X-linked recessive; HPRT-related gout OMIM:300323 HPRT-related hyperuricemia HPRT1 partial deficiency HPRT deficiency, grade I Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 Hypoxanthine-guanine phosphoribosyltransferase deficiency, grade I EXACT HPRT1 partial deficiency EXACT HPRT deficiency, grade I EXACT HPRT partial deficiency EXACT Hypoxanthine-guanine phosphoribosyltransferase deficiency, grade I EXACT HPRT-related gout EXACT HPRT-related hyperuricemia EXACT Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency EXACT Hypoxanthine guanine phosphoribosyltransferase partial deficiency Crigler-Najjar syndrome type 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin-UGT deficiency type 1 Hereditary unconjugated hyperbilirubinemia type 1 UGT deficiency type 1 Orphanet ID- 11260 Bilirubin-UGT deficiency type 1 Gene [OrphaNum:120380 ; Name:UDP glucuronosyltransferase 1 family, polypeptide A1 ; Symbol:UGT1A1 ; xref: REACTOME:P22309 ; xref: GENATLAS:UGT1A1 ; xref: HGNC:12530 ; xref: OMIM:191740 ; xref: UNIPROTKB/SWISSPROT:P22309 ; xref: ENSEMBL:ENSG00000241635] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Hereditary unconjugated hyperbilirubinemia type 1 UGT deficiency type 1 ICD10:E80.5 OMIM:218800 EXACT Bilirubin-UGT deficiency type 1 EXACT Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 EXACT UGT deficiency type 1 EXACT Hereditary unconjugated hyperbilirubinemia type 1 Crigler-Najjar syndrome type 2 Arias syndrome Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-UGT deficiency type 2 Hereditary unconjugated hyperbilirubinemia type 2 UGT deficiency type 2 ICD10:E80.5 Gene [OrphaNum:120380 ; Name:UDP glucuronosyltransferase 1 family, polypeptide A1 ; Symbol:UGT1A1 ; xref: REACTOME:P22309 ; xref: GENATLAS:UGT1A1 ; xref: HGNC:12530 ; xref: OMIM:191740 ; xref: UNIPROTKB/SWISSPROT:P22309 ; xref: ENSEMBL:ENSG00000241635] Arias syndrome Orphanet ID- 11261 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; UGT deficiency type 2 Bilirubin-UGT deficiency type 2 Hereditary unconjugated hyperbilirubinemia type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 OMIM:606785 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 EXACT Bilirubin-UGT deficiency type 2 EXACT Hereditary unconjugated hyperbilirubinemia type 2 EXACT UGT deficiency type 2 EXACT Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 EXACT Arias syndrome Galactokinase deficiency GALK deficiency GALK-D Galactokinase deficiency galactosemia Galactosemia type 2 Galactosemia type 2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 11263 ICD10:E74.2 Gene [OrphaNum:121999 ; Name:Galactokinase 1 ; Symbol:GALK1 ; xref: GENATLAS:GALK1 ; xref: HGNC:4118 ; xref: OMIM:604313 ; xref: UNIPROTKB/SWISSPROT:P51570 ; xref: ENSEMBL:ENSG00000108479 ; xref: REACTOME:P51570] GALK-D GALK deficiency OMIM:230200 Galactokinase deficiency galactosemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 EXACT GALK-D EXACT Galactosemia type 2 EXACT GALK deficiency EXACT Galactokinase deficiency galactosemia Galactose epimerase deficiency Epimerase deficiency galactosemia GALE deficiency GALE-D Galactosemia type 3 UDP-galactose-4-epimerase deficiency Galactosemia type 3 GALE-D Epimerase deficiency galactosemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; UDP-galactose-4-epimerase deficiency OMIM:230350 Orphanet ID- 11264 GALE deficiency ICD10:E74.2 Gene [OrphaNum:121997 ; Name:UDP-galactose-4-epimerase ; Symbol:GALE ; xref: GENATLAS:GALE ; xref: HGNC:4116 ; xref: OMIM:606953 ; xref: UNIPROTKB/SWISSPROT:Q14376 ; xref: ENSEMBL:ENSG00000117308 ; xref: REACTOME:Q14376] EXACT Epimerase deficiency galactosemia EXACT GALE deficiency EXACT Galactosemia type 3 EXACT GALE-D EXACT UDP-galactose-4-epimerase deficiency Classic galactosemia GALT deficiency Galactose-1-phosphate uridyltransferase deficiency Galactosemia type 1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 Galactose-1-phosphate uridyltransferase deficiency OMIM:230400 ICD10:E74.2 Galactosemia type 1 GALT deficiency Gene [OrphaNum:122009 ; Name:Galactose-1-phosphate uridylyltransferase ; Symbol:GALT ; xref: OMIM:606999 ; xref: UNIPROTKB/SWISSPROT:P07902 ; xref: GENATLAS:GALT ; xref: HGNC:4135 ; xref: REACTOME:P07902 ; xref: ENSEMBL:ENSG00000213930] Orphanet ID- 11265 EXACT Galactose-1-phosphate uridyltransferase deficiency EXACT Galactosemia type 1 EXACT GALT deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency GSD due to liver and muscle phosphorylase kinase deficiency GSD type 9B GSD type IXb Glycogen storage disease type 9B Glycogen storage disease type IXb Glycogenosis due to liver and muscle phosphorylase kinase deficiency Glycogenosis type 9B Glycogenosis type IXb Glycogen storage disease type 9B ICD10:E74.0 GSD due to liver and muscle phosphorylase kinase deficiency Gene [OrphaNum:117797 ; Name:Phosphorylase kinase, beta ; Symbol:PHKB ; xref: GENATLAS:PHKB ; xref: HGNC:8927 ; xref: OMIM:172490 ; xref: UNIPROTKB/SWISSPROT:Q93100 ; xref: ENSEMBL:ENSG00000102893 ; xref: REACTOME:Q93100] Glycogenosis type IXb OMIM:261750 Orphanet ID- 11266 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Glycogenosis due to liver and muscle phosphorylase kinase deficiency GSD type IXb Glycogenosis type 9B GSD type 9B Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 Glycogen storage disease type IXb EXACT GSD type 9B EXACT Glycogenosis type 9B EXACT GSD due to liver and muscle phosphorylase kinase deficiency EXACT GSD type IXb EXACT Glycogenosis due to liver and muscle phosphorylase kinase deficiency EXACT Glycogen storage disease type IXb EXACT Glycogenosis type IXb EXACT Glycogen storage disease type 9B Biotinidase deficiency BTD deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 Juvenile-onset multiple carboxylase deficiency OMIM:253260 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Late-onset multiple carboxylase deficiency ICD10:E53.8 Orphanet ID- 11267 BTD deficiency Gene [OrphaNum:119092 ; Name:Biotinidase ; Symbol:BTD ; xref: GENATLAS:BTD ; xref: HGNC:1122 ; xref: OMIM:609019 ; xref: UNIPROTKB/SWISSPROT:P43251 ; xref: ENSEMBL:ENSG00000169814] EXACT Late-onset multiple carboxylase deficiency EXACT Juvenile-onset multiple carboxylase deficiency EXACT BTD deficiency Holocarboxylase synthetase deficiency Early-onset multiple carboxylase deficiency Neonatal multiple carboxylase deficiency OMIM:253270 Neonatal multiple carboxylase deficiency ICD10:E53.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Gene [OrphaNum:122430 ; Name:Holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) ; Symbol:HLCS ; xref: UNIPROTKB/SWISSPROT:P50747 ; xref: GENATLAS:HLCS ; xref: HGNC:4976 ; xref: OMIM:609018 ; xref: ENSEMBL:ENSG00000159267] Orphanet ID- 11268 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 Early-onset multiple carboxylase deficiency EXACT Early-onset multiple carboxylase deficiency EXACT Neonatal multiple carboxylase deficiency Pyruvate dehydrogenase E1-alpha deficiency Pyruvate decarboxylase deficiency Pyruvate dehydrogenase complex E1 component subunit alpha deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 Gene [OrphaNum:124161 ; Name:Pyruvate dehydrogenase (lipoamide) alpha 1 ; Symbol:PDHA1 ; xref: GENATLAS:PDHA1 ; xref: HGNC:8806 ; xref: OMIM:300502 ; xref: UNIPROTKB/SWISSPROT:P08559 ; xref: ENSEMBL:ENSG00000131828 ; xref: REACTOME:P08559] ICD10:E74.4 OMIM:312170 Pyruvate decarboxylase deficiency Orphanet ID- 11269 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- X-linked dominant; Pyruvate dehydrogenase complex E1 component subunit alpha deficiency EXACT Pyruvate decarboxylase deficiency EXACT Pyruvate dehydrogenase complex E1 component subunit alpha deficiency Pyruvate dehydrogenase E2 deficiency Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex component E2 deficiency Gene [OrphaNum:121098 ; Name:Dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) ; Symbol:DLAT ; xref: GENATLAS:DLAT ; xref: HGNC:2896 ; xref: OMIM:608770 ; xref: UNIPROTKB/SWISSPROT:P10515 ; xref: ENSEMBL:ENSG00000150768 ; xref: REACTOME:P10515] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex component E2 deficiency OMIM:245348 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 Orphanet ID- 11270 ICD10:E74.4 EXACT Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency EXACT Pyruvate dehydrogenase complex component E2 deficiency EXACT Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase phosphatase deficiency PDH phosphatase deficiency OMIM:608782 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 ICD10:E74.4 Gene [OrphaNum:158072 ; Name:Pyruvate dehyrogenase phosphatase catalytic subunit 1 ; Symbol:PDP1 ; xref: GENATLAS:PDP1 ; xref: HGNC:9279 ; xref: UNIPROTKB/SWISSPROT:Q9P0J1 ; xref: OMIM:605993 ; xref: ENSEMBL:ENSG00000164951 ; xref: REACTOME:Q9P0J1] Orphanet ID- 11272 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; PDH phosphatase deficiency EXACT PDH phosphatase deficiency Mild phenylketonuria Mild PKU Variant PKU Variant phenylketonuria mPKU mPKU Mild PKU Variant PKU Variant phenylketonuria Gene [OrphaNum:124068 ; Name:Phenylalanine hydroxylase ; Symbol:PAH ; xref: GENATLAS:PAH ; xref: HGNC:8582 ; xref: OMIM:612349 ; xref: UNIPROTKB/SWISSPROT:P00439 ; xref: REACTOME:P00439 ; xref: ENSEMBL:ENSG00000171759] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11279 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253 ICD10:E70.1 EXACT Variant phenylketonuria EXACT Mild PKU EXACT Variant PKU EXACT mPKU Classical phenylketonuria Classic PKU Classic phenylketonuria Classical PKU Classic phenylketonuria Gene [OrphaNum:124068 ; Name:Phenylalanine hydroxylase ; Symbol:PAH ; xref: GENATLAS:PAH ; xref: HGNC:8582 ; xref: OMIM:612349 ; xref: UNIPROTKB/SWISSPROT:P00439 ; xref: REACTOME:P00439 ; xref: ENSEMBL:ENSG00000171759] Orphanet ID- 11280 ICD10:E70.0 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Classic PKU Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254 Classical PKU EXACT Classical PKU EXACT Classic phenylketonuria EXACT Classic PKU GM1 gangliosidosis type 1 Infantile GM1 gangliosidosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122156 ; Name:Galactosidase, beta 1 ; Symbol:GLB1 ; xref: GENATLAS:GLB1 ; xref: HGNC:4298 ; xref: UNIPROTKB/SWISSPROT:P16278 ; xref: OMIM:611458 ; xref: REACTOME:P16278 ; xref: ENSEMBL:ENSG00000170266] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 OMIM:230500 Orphanet ID- 11281 ICD10:E75.1 Infantile GM1 gangliosidosis EXACT Infantile GM1 gangliosidosis GM1 gangliosidosis type 2 Juvenile GM1 gangliosidosis Late-infantile GM1 gangliosidosis OMIM:230600 ICD10:E75.1 Gene [OrphaNum:122156 ; Name:Galactosidase, beta 1 ; Symbol:GLB1 ; xref: GENATLAS:GLB1 ; xref: HGNC:4298 ; xref: UNIPROTKB/SWISSPROT:P16278 ; xref: OMIM:611458 ; xref: REACTOME:P16278 ; xref: ENSEMBL:ENSG00000170266] Late-infantile GM1 gangliosidosis Orphanet ID- 11282 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Juvenile GM1 gangliosidosis EXACT Juvenile GM1 gangliosidosis EXACT Late-infantile GM1 gangliosidosis GM1 gangliosidosis type 3 Adult-onset GM1 gangliosidosis Gene [OrphaNum:122156 ; Name:Galactosidase, beta 1 ; Symbol:GLB1 ; xref: GENATLAS:GLB1 ; xref: HGNC:4298 ; xref: UNIPROTKB/SWISSPROT:P16278 ; xref: OMIM:611458 ; xref: REACTOME:P16278 ; xref: ENSEMBL:ENSG00000170266] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 Adult-onset GM1 gangliosidosis ICD10:E75.1 Orphanet ID- 11283 OMIM:230650 EXACT Adult-onset GM1 gangliosidosis Glycogenosis due to glucose-6-phosphatase deficiency type a G6P deficiency type a GSD due to G6P deficiency type a GSD type 1a GSDIa Glycogen storage disease due to G6P deficiency type a Glycogen storage disease type 1a Ia glycogenosis Type Ia glycogenosis Orphanet ID- 11284 Type Ia glycogenosis Glycogen storage disease due to G6P deficiency type a OMIM:232200 Ia glycogenosis GSD due to G6P deficiency type a ICD10:E74.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 Gene [OrphaNum:121980 ; Name:Glucose-6-phosphatase, catalytic subunit ; Symbol:G6PC ; xref: GENATLAS:G6PC ; xref: HGNC:4056 ; xref: OMIM:613742 ; xref: UNIPROTKB/SWISSPROT:P35575 ; xref: ENSEMBL:ENSG00000131482 ; xref: REACTOME:P35575] GSD type 1a prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Glycogen storage disease type 1a GSDIa G6P deficiency type a EXACT G6P deficiency type a EXACT Type Ia glycogenosis EXACT Ia glycogenosis EXACT Glycogen storage disease type 1a EXACT Glycogen storage disease due to G6P deficiency type a EXACT GSD due to G6P deficiency type a EXACT GSDIa EXACT GSD type 1a Glycogenosis due to glucose-6-phosphatase deficiency type b G6P deficiency type b G6P translocase deficiency G6PT deficiency GSD due to G6P deficiency type b GSD due to G6PT deficiency GSD type 1 non a GSD type 1b GSDIb Glycogen storage disease due to G6P deficiency type b Glycogen storage disease type 1b Ib glycogenosis Type Ib glycogenosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:232220 OMIM:232240 G6P deficiency type b Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 G6PT deficiency Gene [OrphaNum:119474 ; Name:Solute carrier family 37 (glucose-6-phosphate transporter), member 4 ; Symbol:SLC37A4 ; xref: ENSEMBL:ENSG00000137700 ; xref: REACTOME:O43826 ; xref: GENATLAS:SLC37A4 ; xref: HGNC:4061 ; xref: OMIM:602671 ; xref: UNIPROTKB/SWISSPROT:O43826] ICD10:E74.0 Glycogen storage disease due to G6P deficiency type b Orphanet ID- 11285 Glycogen storage disease type 1b GSD type 1 non a Ib glycogenosis Type Ib glycogenosis GSD due to G6P deficiency type b GSDIb GSD due to G6PT deficiency GSD type 1b G6P translocase deficiency EXACT Glycogen storage disease due to G6P deficiency type b EXACT Type Ib glycogenosis EXACT G6P deficiency type b EXACT GSD type 1b EXACT G6PT deficiency EXACT G6P translocase deficiency EXACT GSD due to G6PT deficiency EXACT Ib glycogenosis EXACT GSD due to G6P deficiency type b EXACT Glycogen storage disease type 1b EXACT GSD type 1 non a EXACT GSDIb Adult neuronal ceroid lipofuscinosis Adult NCL Kufs disease OMIM:256730 Kufs disease ICD10:E75.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79262 OMIM:162350 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:610127 Orphanet ID- 11288 Adult NCL OMIM:204300 EXACT Kufs disease EXACT Adult NCL Infantile neuronal ceroid lipofuscinosis Hagberg-Santavuori disease Infantile NCL Santavuori disease Santavuori-Haltia disease OMIM:256730 Orphanet ID- 11289 ICD10:E75.4 Infantile NCL Santavuori-Haltia disease Hagberg-Santavuori disease prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79263 OMIM:214200 Santavuori disease EXACT Infantile NCL EXACT Santavuori disease EXACT Hagberg-Santavuori disease EXACT Santavuori-Haltia disease Juvenile neuronal ceroid lipofuscinosis Batten disease Juvenile NCL Spielmeyer-Vogt disease Orphanet ID- 11290 ICD10:E75.4 Juvenile NCL Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79264 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; Spielmeyer-Vogt disease Batten disease EXACT Batten disease EXACT Spielmeyer-Vogt disease EXACT Juvenile NCL Sanfilippo syndrome type A Heparan sulfamidase deficiency Mucopolysaccharidosis type 3A ICD10:E76.2 Gene [OrphaNum:118674 ; Name:N-sulfoglucosamine sulfohydrolase (sulfamidase) ; Symbol:SGSH ; xref: GENATLAS:SGSH ; xref: HGNC:10818 ; xref: OMIM:605270 ; xref: UNIPROTKB/SWISSPROT:P51688 ; xref: ENSEMBL:ENSG00000181523] Mucopolysaccharidosis type 3A Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 Heparan sulfamidase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:252900 Orphanet ID- 11295 EXACT Mucopolysaccharidosis type 3A EXACT Heparan sulfamidase deficiency Sanfilippo syndrome type B Mucopolysaccharidosis type 3B N-acetyl-alpha-glucosaminidase deficiency Orphanet ID- 11296 ICD10:E76.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:252920 Gene [OrphaNum:123672 ; Name:N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) ; Symbol:NAGLU ; xref: UNIPROTKB/SWISSPROT:P54802 ; xref: GENATLAS:NAGLU ; xref: HGNC:7632 ; xref: OMIM:609701 ; xref: ENSEMBL:ENSG00000108784] N-acetyl-alpha-glucosaminidase deficiency Mucopolysaccharidosis type 3B EXACT Mucopolysaccharidosis type 3B EXACT N-acetyl-alpha-glucosaminidase deficiency Sanfilippo syndrome type C HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency Mucopolysaccharidosis type 3C Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 Heparan-alpha-glucosaminide N-acetyltransferase deficiency OMIM:252930 HGSNAT deficiency Orphanet ID- 11297 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Mucopolysaccharidosis type 3C ICD10:E76.2 Gene [OrphaNum:122412 ; Name:Heparan-alpha-glucosaminide N-acetyltransferase ; Symbol:HGSNAT ; xref: GENATLAS:HGSNAT ; xref: HGNC:26527 ; xref: OMIM:610453 ; xref: UNIPROTKB/SWISSPROT:Q68CP4 ; xref: ENSEMBL:ENSG00000165102] EXACT HGSNAT deficiency EXACT Heparan-alpha-glucosaminide N-acetyltransferase deficiency EXACT Mucopolysaccharidosis type 3C Sanfilippo syndrome type D GNS deficiency Glucosamine N-acetyl-6-sulfatase deficiency Mucopolysaccharidosis type 3D OMIM:252940 Glucosamine N-acetyl-6-sulfatase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E76.2 Orphanet ID- 11298 Gene [OrphaNum:122230 ; Name:Glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) ; Symbol:GNS ; xref: GENATLAS:GNS ; xref: HGNC:4422 ; xref: OMIM:607664 ; xref: UNIPROTKB/SWISSPROT:P15586 ; xref: REACTOME:P15586 ; xref: ENSEMBL:ENSG00000135677] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 Mucopolysaccharidosis type 3D GNS deficiency EXACT GNS deficiency EXACT Glucosamine N-acetyl-6-sulfatase deficiency EXACT Mucopolysaccharidosis type 3D Hereditary coproporphyria ICD10:E80.2 OMIM:121300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 11299 Gene [OrphaNum:120783 ; Name:Coproporphyrinogen oxidase ; Symbol:CPOX ; xref: GENATLAS:CPOX ; xref: HGNC:2321 ; xref: UNIPROTKB/SWISSPROT:P36551 ; xref: OMIM:612732 ; xref: ENSEMBL:ENSG00000080819 ; xref: REACTOME:P36551] Acute intermittent porphyria prevalence- 1-5 / 10 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:176000 ICD10:E80.2 Gene [OrphaNum:122438 ; Name:Hydroxymethylbilane synthase ; Symbol:HMBS ; xref: GENATLAS:HMBS ; xref: HGNC:4982 ; xref: OMIM:609806 ; xref: UNIPROTKB/SWISSPROT:P08397 ; xref: ENSEMBL:ENSG00000256269 ; xref: REACTOME:P08397] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 Orphanet ID- 11302 Congenital erythropoietic porphyria CEP Günther disease ICD10:E80.0 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal recessive; Günther disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 CEP Gene [OrphaNum:120431 ; Name:Uroporphyrinogen III synthase (congenital erythropoietic porphyria) ; Symbol:UROS ; xref: GENATLAS:UROS ; xref: HGNC:12592 ; xref: OMIM:606938 ; xref: UNIPROTKB/SWISSPROT:P10746 ; xref: ENSEMBL:ENSG00000188690 ; xref: REACTOME:P10746] OMIM:263700 Orphanet ID- 11303 Gene [OrphaNum:122028 ; Name:GATA binding protein 1 (globin transcription factor 1) ; Symbol:GATA1 ; xref: GENATLAS:GATA1 ; xref: HGNC:4170 ; xref: OMIM:305371 ; xref: UNIPROTKB/SWISSPROT:P15976 ; xref: ENSEMBL:ENSG00000102145 ; xref: REACTOME:P15976] EXACT Günther disease EXACT CEP Erythropoietic protoporphyria EPP XLDPP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 ICD10:E80.0 EPP Gene [OrphaNum:119573 ; Name:Aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) ; Symbol:ALAS2 ; xref: GENATLAS:ALAS2 ; xref: HGNC:397 ; xref: OMIM:301300 ; xref: UNIPROTKB/SWISSPROT:P22557 ; xref: ENSEMBL:ENSG00000158578 ; xref: REACTOME:P22557] Orphanet ID- 11304 OMIM:177000 Gene [OrphaNum:121784 ; Name:Ferrochelatase (protoporphyria) ; Symbol:FECH ; xref: GENATLAS:FECH ; xref: HGNC:3647 ; xref: OMIM:612386 ; xref: UNIPROTKB/SWISSPROT:P22830 ; xref: REACTOME:P22830 ; xref: ENSEMBL:ENSG00000066926] prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; OMIM:300752 XLDPP EXACT XLDPP EXACT EPP Alpha-N-acetylgalactosaminidase deficiency type 1 NAGA type 1 Schindler disease type 1 Schindler disease type 1 NAGA type 1 Orphanet ID- 11305 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 ICD10:E77.1 EXACT Schindler disease type 1 EXACT NAGA type 1 Alpha-N-acetylgalactosaminidase deficiency type 2 Adult-onset Alpha-N-acetylgalactosaminidase deficiency Kanzaki disease NAGA type 2 Schindler disease type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E77.1 Adult-onset Alpha-N-acetylgalactosaminidase deficiency Kanzaki disease Schindler disease type 2 Orphanet ID- 11306 NAGA type 2 EXACT NAGA type 2 EXACT Kanzaki disease EXACT Schindler disease type 2 EXACT Adult-onset Alpha-N-acetylgalactosaminidase deficiency Alpha-N-acetylgalactosaminidase deficiency type 3 NAGA type 3 Schindler disease type 3 Orphanet ID- 11307 NAGA type 3 Schindler disease type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 ICD10:E77.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT NAGA type 3 EXACT Schindler disease type 3 Methylmalonic acidemia with homocystinuria, type cblC Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Methylmalonic aciduria with homocystinuria, type cblC OMIM:277400 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC ICD10:E72.1 Gene [OrphaNum:123433 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria ; Symbol:MMACHC ; xref: GENATLAS:MMACHC ; xref: HGNC:24525 ; xref: OMIM:609831 ; xref: UNIPROTKB/SWISSPROT:Q9Y4U1 ; xref: ENSEMBL:ENSG00000132763] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 Orphanet ID- 11308 Methylmalonic aciduria with homocystinuria, type cblC EXACT Methylmalonic aciduria with homocystinuria, type cblC EXACT Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Methylmalonic acidemia with homocystinuria, type cblD Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD Methylmalonic aciduria with homocystinuria, type cblD OMIM:277410 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Methylmalonic aciduria with homocystinuria, type cblD ICD10:E72.1 Orphanet ID- 11309 Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD Gene [OrphaNum:171059 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria ; Symbol:MMADHC ; xref: GENATLAS:MMADHC ; xref: HGNC:25221 ; xref: OMIM:611935 ; xref: UNIPROTKB/SWISSPROT:Q9H3L0 ; xref: ENSEMBL:ENSG00000168288] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 EXACT Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD EXACT Methylmalonic aciduria with homocystinuria, type cblD Methylmalonic acidemia with homocystinuria, type cblF Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF Lysosomal membrane cobalamin transporter deficiency Methylmalonic aciduria with homocystinuria, type cblF Lysosomal membrane cobalamin transporter deficiency Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF Gene [OrphaNum:173562 ; Name:LMBR1 domain containing 1 ; Symbol:LMBRD1 ; xref: GENATLAS:LMBRD1 ; xref: HGNC:23038 ; xref: OMIM:612625 ; xref: UNIPROTKB/SWISSPROT:Q9NUN5 ; xref: ENSEMBL:ENSG00000168216] Orphanet ID- 11310 OMIM:277380 ICD10:E72.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Methylmalonic aciduria with homocystinuria, type cblF EXACT Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF EXACT Methylmalonic aciduria with homocystinuria, type cblF EXACT Lysosomal membrane cobalamin transporter deficiency Fish-eye disease FED Partial LCAT deficiency Gene [OrphaNum:123006 ; Name:Lecithin-cholesterol acyltransferase ; Symbol:LCAT ; xref: GENATLAS:LCAT ; xref: HGNC:6522 ; xref: OMIM:606967 ; xref: UNIPROTKB/SWISSPROT:P04180 ; xref: REACTOME:P04180 ; xref: ENSEMBL:ENSG00000213398] Orphanet ID- 11318 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 FED Partial LCAT deficiency ICD10:E78.6 OMIM:136120 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; EXACT FED EXACT Partial LCAT deficiency Familial LCAT deficiency Complete LCAT deficiency FLD Norum disease ICD10:E78.6 Complete LCAT deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; Norum disease Orphanet ID- 11319 FLD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 Gene [OrphaNum:123006 ; Name:Lecithin-cholesterol acyltransferase ; Symbol:LCAT ; xref: GENATLAS:LCAT ; xref: HGNC:6522 ; xref: OMIM:606967 ; xref: UNIPROTKB/SWISSPROT:P04180 ; xref: REACTOME:P04180 ; xref: ENSEMBL:ENSG00000213398] OMIM:245900 EXACT Norum disease EXACT Complete LCAT deficiency EXACT FLD Microdeletion Xp22.3 ICD10:Q93.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643 OMIM:308200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1132 Chylomicron retention - Marinesco-Sjögren syndrome CMRD-MSS prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79297 CMRD-MSS Orphanet ID- 11323 EXACT CMRD-MSS Diazoxide-resistant focal hyperinsulinism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11324 Hyperinsulinism due to glucokinase deficiency Hyperinsulinemic hypoglycemia due to glucokinase deficiency ICD10:E16.1 Gene [OrphaNum:122053 ; Name:Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) ; Symbol:GCK ; xref: GENATLAS:GCK ; xref: HGNC:4195 ; xref: OMIM:138079 ; xref: UNIPROTKB/SWISSPROT:P35557 ; xref: ENSEMBL:ENSG00000106633 ; xref: REACTOME:P35557] OMIM:602485 Orphanet ID- 11325 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 Hyperinsulinemic hypoglycemia due to glucokinase deficiency EXACT Hyperinsulinemic hypoglycemia due to glucokinase deficiency Congenital bile acid synthesis defect type 1 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency OMIM:607765 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 11327 Gene [OrphaNum:122517 ; Name:Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 ; Symbol:HSD3B7 ; xref: ENSEMBL:ENSG00000099377 ; xref: GENATLAS:HSD3B7 ; xref: HGNC:18324 ; xref: OMIM:607764 ; xref: UNIPROTKB/SWISSPROT:Q9H2F3 ; xref: REACTOME:Q9H2F3] ICD10:K76.8 EXACT 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency Congenital bile acid synthesis defect type 3 Oxysterol 7-alpha-hydroxylase deficiency Gene [OrphaNum:121005 ; Name:Cytochrome P450, family 7, subfamily B, polypeptide 1 ; Symbol:CYP7B1 ; xref: GENATLAS:CYP7B1 ; xref: HGNC:2652 ; xref: OMIM:603711 ; xref: UNIPROTKB/SWISSPROT:O75881 ; xref: REACTOME:O75881 ; xref: ENSEMBL:ENSG00000172817] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:K76.8 Orphanet ID- 11328 OMIM:613812 Oxysterol 7-alpha-hydroxylase deficiency EXACT Oxysterol 7-alpha-hydroxylase deficiency Congenital bile acid synthesis defect type 2 Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency ICD10:K76.8 Gene [OrphaNum:139142 ; Name:Aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) ; Symbol:AKR1D1 ; xref: GENATLAS:AKR1D1 ; xref: HGNC:388 ; xref: OMIM:604741 ; xref: UNIPROTKB/SWISSPROT:P51857 ; xref: ENSEMBL:ENSG00000122787 ; xref: REACTOME:P51857] OMIM:235555 Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency Orphanet ID- 11329 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 EXACT Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency Progressive familial intrahepatic cholestasis type 2 BSEP deficiency PFIC2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 ICD10:K83.1 Orphanet ID- 11330 OMIM:601847 Gene [OrphaNum:117631 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 11 ; Symbol:ABCB11 ; xref: GENATLAS:ABCB11 ; xref: HGNC:42 ; xref: OMIM:603201 ; xref: UNIPROTKB/SWISSPROT:O95342 ; xref: REACTOME:O95342 ; xref: ENSEMBL:ENSG00000073734] BSEP deficiency prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; PFIC2 EXACT BSEP deficiency EXACT PFIC2 Progressive familial intrahepatic cholestasis type 3 PFIC3 OMIM:602347 ICD10:K83.1 Gene [OrphaNum:117639 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 4 ; Symbol:ABCB4 ; xref: GENATLAS:ABCB4 ; xref: HGNC:45 ; xref: OMIM:171060 ; xref: UNIPROTKB/SWISSPROT:P21439 ; xref: REACTOME:P21439 ; xref: ENSEMBL:ENSG00000005471] Orphanet ID- 11331 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 PFIC3 EXACT PFIC3 Progressive familial intrahepatic cholestasis type 1 Byler disease FIC1 deficiency PFIC1 OMIM:211600 ICD10:K83.1 Byler disease prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; FIC1 deficiency Orphanet ID- 11332 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 Gene [OrphaNum:118885 ; Name:ATPase, Class I, type 8B, member 1 ; Symbol:ATP8B1 ; xref: GENATLAS:ATP8B1 ; xref: HGNC:3706 ; xref: OMIM:602397 ; xref: UNIPROTKB/SWISSPROT:O43520 ; xref: ENSEMBL:ENSG00000081923 ; xref: REACTOME:O43520] PFIC1 EXACT FIC1 deficiency EXACT Byler disease EXACT PFIC1 Vitamin B12-responsive methylmalonic acidemia type cblA Vitamin B12-responsive methylmalonic aciduria type cblA Vitamin B12-responsive methylmalonic aciduria type cblA prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 Orphanet ID- 11336 ICD10:E71.1 OMIM:251100 Gene [OrphaNum:123294 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblA type ; Symbol:MMAA ; xref: GENATLAS:MMAA ; xref: HGNC:18871 ; xref: OMIM:607481 ; xref: UNIPROTKB/SWISSPROT:Q8IVH4 ; xref: ENSEMBL:ENSG00000151611] EXACT Vitamin B12-responsive methylmalonic aciduria type cblA Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-responsive methylmalonic aciduria type cblB prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E71.1 Vitamin B12-responsive methylmalonic aciduria type cblB OMIM:251110 Gene [OrphaNum:123296 ; Name:Methylmalonic aciduria (cobalamin deficiency) cblB type ; Symbol:MMAB ; xref: GENATLAS:MMAB ; xref: HGNC:19331 ; xref: OMIM:607568 ; xref: UNIPROTKB/SWISSPROT:Q96EY8 ; xref: ENSEMBL:ENSG00000139428] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 Orphanet ID- 11337 EXACT Vitamin B12-responsive methylmalonic aciduria type cblB Partial deficiency of methylmalonyl-CoA mutase Vitamin B12 unresponsive methylmalonic acidemia type mut- Vitamin B12 unresponsive methylmalonic aciduria type mut- OMIM:251000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 Vitamin B12 unresponsive methylmalonic acidemia type mut- prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123583 ; Name:Methylmalonyl Coenzyme A mutase ; Symbol:MUT ; xref: GENATLAS:MUT ; xref: HGNC:7526 ; xref: OMIM:609058 ; xref: UNIPROTKB/SWISSPROT:P22033 ; xref: REACTOME:P22033 ; xref: ENSEMBL:ENSG00000146085] Vitamin B12 unresponsive methylmalonic aciduria type mut- Orphanet ID- 11338 ICD10:E71.1 EXACT Vitamin B12 unresponsive methylmalonic acidemia type mut- EXACT Vitamin B12 unresponsive methylmalonic aciduria type mut- L-2-hydroxyglutaric aciduria L-2-HGA L-2-hydroxyglutaric acidemia Gene [OrphaNum:122957 ; Name:L-2-hydroxyglutarate dehydrogenase ; Symbol:L2HGDH ; xref: GENATLAS:L2HGDH ; xref: HGNC:20499 ; xref: OMIM:609584 ; xref: UNIPROTKB/SWISSPROT:Q9H9P8 ; xref: ENSEMBL:ENSG00000087299 ; xref: REACTOME:Q9H9P8] OMIM:236792 L-2-hydroxyglutaric acidemia Orphanet ID- 11340 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; L-2-HGA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 EXACT L-2-hydroxyglutaric acidemia EXACT L-2-HGA D-2-hydroxyglutaric aciduria D-2-HGA D-2-hydroxyglutaric acidemia OMIM:613657 D-2-hydroxyglutaric acidemia D-2-HGA Gene [OrphaNum:247145 ; Name:Isocitrate dehydrogenase 2 (NADP+), mitochondrial ; Symbol:IDH2 ; xref: GENATLAS:IDH2 ; xref: ENSEMBL:ENSG00000182054 ; xref: REACTOME:P48735 ; xref: HGNC:5383 ; xref: OMIM:147650 ; xref: UNIPROTKB/SWISSPROT:P48735] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 Gene [OrphaNum:121007 ; Name:D-2-hydroxyglutarate dehydrogenase ; Symbol:D2HGDH ; xref: GENATLAS:D2HGDH ; xref: HGNC:28358 ; xref: OMIM:609186 ; xref: UNIPROTKB/SWISSPROT:Q8N465 ; xref: ENSEMBL:ENSG00000180902 ; xref: REACTOME:Q8N465] OMIM:600721 Orphanet ID- 11341 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT D-2-hydroxyglutaric acidemia EXACT D-2-HGA Phosphoenolpyruvate carboxykinase 1 deficiency PEPCK1 deficiency PEPCK1 deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11342 ICD10:E74.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79316 EXACT PEPCK1 deficiency Phosphoenolpyruvate carboxykinase 2 deficiency PEPCK2 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79317 PEPCK2 deficiency ICD10:E74.4 Orphanet ID- 11343 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT PEPCK2 deficiency CDG syndrome type Ia CDG1A Carbohydrate deficient glycoprotein syndrome type Ia Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type Ia OMIM:212065 Orphanet ID- 11344 Gene [OrphaNum:117903 ; Name:Phosphomannomutase 2 ; Symbol:PMM2 ; xref: GENATLAS:PMM2 ; xref: HGNC:9115 ; xref: OMIM:601785 ; xref: UNIPROTKB/SWISSPROT:O15305 ; xref: ENSEMBL:ENSG00000140650 ; xref: REACTOME:O15305] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital disorder of glycosylation type Ia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 Congenital disorder of glycosylation type 1a Carbohydrate deficient glycoprotein syndrome type Ia ICD10:E77.8 CDG1A EXACT CDG1A EXACT Congenital disorder of glycosylation type 1a EXACT Carbohydrate deficient glycoprotein syndrome type Ia EXACT Congenital disorder of glycosylation type Ia CDG syndrome type Ib CDG1B Carbohydrate deficient glycoprotein syndrome type Ib Congenital disorder of glycosylation type 1b Congenital disorder of glycosylation type Ib CDG1B Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 ICD10:E77.8 OMIM:602579 Congenital disorder of glycosylation type Ib Orphanet ID- 11345 Congenital disorder of glycosylation type 1b prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123463 ; Name:Mannose phosphate isomerase ; Symbol:MPI ; xref: GENATLAS:MPI ; xref: HGNC:7216 ; xref: OMIM:154550 ; xref: UNIPROTKB/SWISSPROT:P34949 ; xref: REACTOME:P34949 ; xref: ENSEMBL:ENSG00000178802] Carbohydrate deficient glycoprotein syndrome type Ib EXACT Congenital disorder of glycosylation type 1b EXACT Congenital disorder of glycosylation type Ib EXACT CDG1B EXACT Carbohydrate deficient glycoprotein syndrome type Ib CDG syndrome type Ic CDG1C Carbohydrate deficient glycoprotein syndrome type Ic Congenital disorder of glycosylation type 1c Congenital disorder of glycosylation type Ic prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:603147 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 Congenital disorder of glycosylation type 1c Carbohydrate deficient glycoprotein syndrome type Ic Orphanet ID- 11346 CDG1C Gene [OrphaNum:119624 ; Name:Asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) ; Symbol:ALG6 ; xref: GENATLAS:ALG6 ; xref: HGNC:23157 ; xref: OMIM:604566 ; xref: UNIPROTKB/SWISSPROT:Q9Y672 ; xref: ENSEMBL:ENSG00000088035 ; xref: REACTOME:Q9Y672] ICD10:E77.8 Congenital disorder of glycosylation type Ic EXACT Congenital disorder of glycosylation type 1c EXACT Congenital disorder of glycosylation type Ic EXACT CDG1C EXACT Carbohydrate deficient glycoprotein syndrome type Ic CDG syndrome type Id CDG1D Carbohydrate deficient glycoprotein syndrome type Id Congenital disorder of glycosylation type 1d Congenital disorder of glycosylation type Id Orphanet ID- 11347 Carbohydrate deficient glycoprotein syndrome type Id prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; CDG1D OMIM:601110 Congenital disorder of glycosylation type Id Congenital disorder of glycosylation type 1d ICD10:E77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 Gene [OrphaNum:119618 ; Name:Asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) ; Symbol:ALG3 ; xref: GENATLAS:ALG3 ; xref: HGNC:23056 ; xref: OMIM:608750 ; xref: UNIPROTKB/SWISSPROT:Q92685 ; xref: REACTOME:Q92685 ; xref: ENSEMBL:ENSG00000214160] EXACT Congenital disorder of glycosylation type Id EXACT Congenital disorder of glycosylation type 1d EXACT CDG1D EXACT Carbohydrate deficient glycoprotein syndrome type Id CDG syndrome type Ie CDG1E Carbohydrate deficient glycoprotein syndrome type Ie Congenital disorder of glycosylation type 1e Congenital disorder of glycosylation type Ie OMIM:608799 Congenital disorder of glycosylation type 1e Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Carbohydrate deficient glycoprotein syndrome type Ie ICD10:E77.8 CDG1E Congenital disorder of glycosylation type Ie Gene [OrphaNum:121167 ; Name:Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit ; Symbol:DPM1 ; xref: GENATLAS:DPM1 ; xref: HGNC:3005 ; xref: OMIM:603503 ; xref: UNIPROTKB/SWISSPROT:O60762 ; xref: ENSEMBL:ENSG00000000419 ; xref: REACTOME:O60762] Orphanet ID- 11348 EXACT Carbohydrate deficient glycoprotein syndrome type Ie EXACT Congenital disorder of glycosylation type 1e EXACT CDG1E EXACT Congenital disorder of glycosylation type Ie CDG syndrome type If CDG1F Carbohydrate deficient glycoprotein syndrome type If Congenital disorder of glycosylation type 1f Congenital disorder of glycosylation type If Gene [OrphaNum:123458 ; Name:Mannose-P-dolichol utilization defect 1 ; Symbol:MPDU1 ; xref: GENATLAS:MPDU1 ; xref: HGNC:7207 ; xref: OMIM:604041 ; xref: UNIPROTKB/SWISSPROT:O75352 ; xref: ENSEMBL:ENSG00000129255] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 ICD10:E77.8 Congenital disorder of glycosylation type 1f Orphanet ID- 11349 Carbohydrate deficient glycoprotein syndrome type If CDG1F prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital disorder of glycosylation type If OMIM:609180 EXACT CDG1F EXACT Carbohydrate deficient glycoprotein syndrome type If EXACT Congenital disorder of glycosylation type 1f EXACT Congenital disorder of glycosylation type If CDG syndrome type Ig CDG1G Carbohydrate deficient glycoprotein syndrome Ig Congenital disorder of glycosylation 1g Congenital disorder of glycosylation Ig ICD10:E77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 CDG1G Gene [OrphaNum:119610 ; Name:Asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase) ; Symbol:ALG12 ; xref: GENATLAS:ALG12 ; xref: HGNC:19358 ; xref: OMIM:607144 ; xref: UNIPROTKB/SWISSPROT:Q9BV10 ; xref: ENSEMBL:ENSG00000182858 ; xref: REACTOME:Q9BV10] Congenital disorder of glycosylation Ig OMIM:607143 Orphanet ID- 11350 Congenital disorder of glycosylation 1g Carbohydrate deficient glycoprotein syndrome Ig prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Congenital disorder of glycosylation Ig EXACT CDG1G EXACT Congenital disorder of glycosylation 1g EXACT Carbohydrate deficient glycoprotein syndrome Ig CDG syndrome type Ih CDG1H Carbohydrate deficient glycoprotein syndrome Ih Congenital disorder of glycosylation 1h Congenital disorder of glycosylation Ih Congenital disorder of glycosylation 1h Congenital disorder of glycosylation Ih Carbohydrate deficient glycoprotein syndrome Ih Gene [OrphaNum:119626 ; Name:Asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) ; Symbol:ALG8 ; xref: GENATLAS:ALG8 ; xref: HGNC:23161 ; xref: OMIM:608103 ; xref: UNIPROTKB/SWISSPROT:Q9BVK2 ; xref: ENSEMBL:ENSG00000159063 ; xref: REACTOME:Q9BVK2] CDG1H OMIM:608104 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:E77.8 Orphanet ID- 11351 EXACT Carbohydrate deficient glycoprotein syndrome Ih EXACT CDG1H EXACT Congenital disorder of glycosylation Ih EXACT Congenital disorder of glycosylation 1h CDG syndrome type Ii CDG1I Carbohydrate deficient glycoprotein syndrome Ii Congenital disorder of glycosylation 1i Congenital disorder of glycosylation Ii Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 Gene [OrphaNum:119613 ; Name:Asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) ; Symbol:ALG2 ; xref: GENATLAS:ALG2 ; xref: HGNC:23159 ; xref: OMIM:607905 ; xref: UNIPROTKB/SWISSPROT:Q9H553 ; xref: ENSEMBL:ENSG00000119523 ; xref: REACTOME:Q9H553] ICD10:E77.8 Congenital disorder of glycosylation 1i prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Congenital disorder of glycosylation Ii Orphanet ID- 11352 OMIM:607906 CDG1I Carbohydrate deficient glycoprotein syndrome Ii EXACT CDG1I EXACT Carbohydrate deficient glycoprotein syndrome Ii EXACT Congenital disorder of glycosylation Ii EXACT Congenital disorder of glycosylation 1i CDG syndrome type Ik CDG1K Carbohydrate deficient glycoprotein syndrome type Ik Congenital disorder of glycosylation type 1k Congenital disorder of glycosylation type Ik Orphanet ID- 11353 OMIM:608540 Congenital disorder of glycosylation type 1k Gene [OrphaNum:119603 ; Name:Asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase) ; Symbol:ALG1 ; xref: OMIM:605907 ; xref: UNIPROTKB/SWISSPROT:Q9BT22 ; xref: GENATLAS:ALG1 ; xref: HGNC:18294 ; xref: REACTOME:Q9BT22 ; xref: ENSEMBL:ENSG00000033011] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 CDG1K Carbohydrate deficient glycoprotein syndrome type Ik Congenital disorder of glycosylation type Ik EXACT Congenital disorder of glycosylation type Ik EXACT Carbohydrate deficient glycoprotein syndrome type Ik EXACT Congenital disorder of glycosylation type 1k EXACT CDG1K CDG syndrome type IL CDG1L Carbohydrate deficient glycoprotein syndrome type IL Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation type IL Orphanet ID- 11354 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 Gene [OrphaNum:119629 ; Name:Asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase) ; Symbol:ALG9 ; xref: GENATLAS:ALG9 ; xref: HGNC:15672 ; xref: OMIM:606941 ; xref: UNIPROTKB/SWISSPROT:Q9H6U8 ; xref: ENSEMBL:ENSG00000086848 ; xref: REACTOME:Q9H6U8] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:E77.8 OMIM:608776 Carbohydrate deficient glycoprotein syndrome type IL CDG1L Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation type IL EXACT Congenital disorder of glycosylation type IL EXACT Congenital disorder of glycosylation type 1L EXACT CDG1L EXACT Carbohydrate deficient glycoprotein syndrome type IL CDG syndrome type IIa CDG2A Carbohydrate deficient glycoprotein syndrome type IIa Congenital disorder of glycosylation type 2a Congenital disorder of glycosylation type IIa prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Congenital disorder of glycosylation type 2a OMIM:212066 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 Orphanet ID- 11355 Congenital disorder of glycosylation type IIa Carbohydrate deficient glycoprotein syndrome type IIa CDG2A ICD10:E77.8 Gene [OrphaNum:123216 ; Name:Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase ; Symbol:MGAT2 ; xref: UNIPROTKB/SWISSPROT:Q10469 ; xref: GENATLAS:MGAT2 ; xref: HGNC:7045 ; xref: OMIM:602616 ; xref: REACTOME:Q10469 ; xref: ENSEMBL:ENSG00000168282] EXACT CDG2A EXACT Congenital disorder of glycosylation type IIa EXACT Congenital disorder of glycosylation type 2a EXACT Carbohydrate deficient glycoprotein syndrome type IIa CDG syndrome type IIb CDG2B Carbohydrate deficient glycoprotein syndrome type IIb Congenital disorder of glycosylation type 2b Congenital disorder of glycosylation type IIb Congenital disorder of glycosylation type 2b prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 CDG2B OMIM:606056 Carbohydrate deficient glycoprotein syndrome type IIb Orphanet ID- 11356 Gene [OrphaNum:183883 ; Name:Mannosyl-oligosaccharide glucosidase ; Symbol:MOGS ; xref: REACTOME:Q13724 ; xref: ENSEMBL:ENSG00000115275 ; xref: GENATLAS:GCS1 ; xref: HGNC:24862 ; xref: OMIM:601336 ; xref: UNIPROTKB/SWISSPROT:Q13724] Congenital disorder of glycosylation type IIb ICD10:E77.8 EXACT Carbohydrate deficient glycoprotein syndrome type IIb EXACT CDG2B EXACT Congenital disorder of glycosylation type IIb EXACT Congenital disorder of glycosylation type 2b CDG syndrome type IId CDG2D Carbohydrate deficient glycoprotein syndrome type IId Congenital disorder of glycosylation type 2d Congenital disorder of glycosylation type IId Gene [OrphaNum:118962 ; Name:UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 ; Symbol:B4GALT1 ; xref: HGNC:924 ; xref: OMIM:137060 ; xref: UNIPROTKB/SWISSPROT:P15291 ; xref: GENATLAS:B4GALT1 ; xref: REACTOME:P15291 ; xref: ENSEMBL:ENSG00000086062] Congenital disorder of glycosylation type IId CDG2D OMIM:607091 Carbohydrate deficient glycoprotein syndrome type IId Congenital disorder of glycosylation type 2d ICD10:E77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 Orphanet ID- 11358 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Congenital disorder of glycosylation type 2d EXACT Congenital disorder of glycosylation type IId EXACT Carbohydrate deficient glycoprotein syndrome type IId EXACT CDG2D CDG syndrome type IIe CDG2E Carbohydrate deficient glycoprotein syndrome type IIe Congenital disorder of glycosylation type 2e Congenital disorder of glycosylation type IIe Orphanet ID- 11359 Congenital disorder of glycosylation type IIe ICD10:E77.8 CDG2E Gene [OrphaNum:120686 ; Name:Component of oligomeric golgi complex 7 ; Symbol:COG7 ; xref: GENATLAS:COG7 ; xref: HGNC:18622 ; xref: OMIM:606978 ; xref: UNIPROTKB/SWISSPROT:P83436 ; xref: ENSEMBL:ENSG00000168434] Congenital disorder of glycosylation type 2e Carbohydrate deficient glycoprotein syndrome type IIe OMIM:608779 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 EXACT Congenital disorder of glycosylation type 2e EXACT Congenital disorder of glycosylation type IIe EXACT CDG2E EXACT Carbohydrate deficient glycoprotein syndrome type IIe Chondrodysplasia punctata, Sheffield type ICD10:Q77.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79344 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:118650 Orphanet ID- 11370 Brachytelephalangic chondrodysplasia punctata Orphanet ID- 11371 OMIM:602497 OMIM:302950 ICD10:Q77.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:121431 ; Name:Arylsulfatase E (chondrodysplasia punctata 1) ; Symbol:ARSE ; xref: OMIM:300180 ; xref: UNIPROTKB/SWISSPROT:P51690 ; xref: GENATLAS:ARSE ; xref: HGNC:719 ; xref: ENSEMBL:ENSG00000157399] Chondrodysplasia punctata, tibial-metacarpal type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q77.3 Orphanet ID- 11372 OMIM:118651 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346 Chondrodysplasia punctata, Toriello type Toriello-Higgins-Miller syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Toriello-Higgins-Miller syndrome OMIM:215105 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347 Orphanet ID- 11373 ICD10:Q77.3 EXACT Toriello-Higgins-Miller syndrome 3-Phosphoserine phosphatase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 ICD10:E72.8 Gene [OrphaNum:118111 ; Name:Phosphoserine phosphatase ; Symbol:PSPH ; xref: GENATLAS:PSPH ; xref: HGNC:9577 ; xref: OMIM:172480 ; xref: UNIPROTKB/SWISSPROT:P78330 ; xref: ENSEMBL:ENSG00000146733 ; xref: REACTOME:P78330] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11376 OMIM:614023 3-Phosphoglycerate dehydrogenase deficiency Gene [OrphaNum:117785 ; Name:Phosphoglycerate dehydrogenase ; Symbol:PHGDH ; xref: GENATLAS:PHGDH ; xref: HGNC:8923 ; xref: OMIM:606879 ; xref: UNIPROTKB/SWISSPROT:O43175 ; xref: ENSEMBL:ENSG00000092621 ; xref: REACTOME:O43175] ICD10:E72.8 Orphanet ID- 11377 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601815 Familial palmoplantar keratoderma Orphanet ID- 11383 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79357 Genetic unclassified epidermal disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79360 Orphanet ID- 11386 Inherited epidermolysis bullosa prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361 Orphanet ID- 11387 Alopecia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79364 Orphanet ID- 11390 Hypertrichosis Orphanet ID- 11391 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79365 Isolated hair shaft abnormality Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79366 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11392 Syndromic hair shaft abnormality Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79367 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11393 Isolated nail anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79369 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11395 Syndromic nail anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79370 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11396 Ectodermal dysplasia syndrome Orphanet ID- 11399 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lymphedema prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79383 Orphanet ID- 11409 Unclassified genetic skin disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79385 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11411 Metabolic disease with skin involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79387 Orphanet ID- 11413 Mucopolysaccharidosis with skin involvement Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79388 Orphanet ID- 11414 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Premature aging prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79389 Orphanet ID- 11415 Congenital nonbullous ichthyosiform erythroderma CIE Erythrodermic ichthyoses Non bullous congenital ichthyosiform erythroderma OMIM:612281 ICD10:Q80.2 Gene [OrphaNum:120076 ; Name:Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) ; Symbol:TGM1 ; xref: GENATLAS:TGM1 ; xref: HGNC:11777 ; xref: OMIM:190195 ; xref: UNIPROTKB/SWISSPROT:P22735 ; xref: ENSEMBL:ENSG00000092295] Gene [OrphaNum:223546 ; Name:NIPA-like domain containing 4 ; Symbol:NIPAL4 ; xref: HGNC:28018 ; xref: OMIM:609383 ; xref: UNIPROTKB/SWISSPROT:Q0D2K0 ; xref: ENSEMBL:ENSG00000172548 ; xref: GENATLAS:ICHTHYIN] CIE Gene [OrphaNum:117620 ; Name:ATP-binding cassette, sub-family A (ABC1), member 12 ; Symbol:ABCA12 ; xref: GENATLAS:ABCA12 ; xref: HGNC:14637 ; xref: OMIM:607800 ; xref: UNIPROTKB/SWISSPROT:Q86UK0 ; xref: REACTOME:Q86UK0 ; xref: ENSEMBL:ENSG00000144452] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 Orphanet ID- 11420 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:242100 Gene [OrphaNum:119635 ; Name:Arachidonate 12-lipoxygenase, 12R type ; Symbol:ALOX12B ; xref: GENATLAS:ALOX12B ; xref: HGNC:430 ; xref: OMIM:603741 ; xref: UNIPROTKB/SWISSPROT:O75342 ; xref: ENSEMBL:ENSG00000179477] Gene [OrphaNum:119637 ; Name:Arachidonate lipoxygenase 3 ; Symbol:ALOXE3 ; xref: HGNC:13743 ; xref: OMIM:607206 ; xref: UNIPROTKB/SWISSPROT:Q9BYJ1 ; xref: GENATLAS:ALOXE3 ; xref: ENSEMBL:ENSG00000179148] Non bullous congenital ichthyosiform erythroderma Erythrodermic ichthyoses EXACT CIE EXACT Erythrodermic ichthyoses EXACT Non bullous congenital ichthyosiform erythroderma Loricrin keratoderma Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase Keratoderma hereditarium mutilans with ichthyosis Vohwinkel syndrome - ichthyosis OMIM:604117 Orphanet ID- 11421 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 Keratoderma hereditarium mutilans with ichthyosis Gene [OrphaNum:123105 ; Name:Loricrin ; Symbol:LOR ; xref: GENATLAS:LOR ; xref: HGNC:6663 ; xref: OMIM:152445 ; xref: UNIPROTKB/SWISSPROT:P23490 ; xref: ENSEMBL:ENSG00000203782] Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Vohwinkel syndrome - ichthyosis EXACT Keratoderma hereditarium mutilans with ichthyosis EXACT Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase EXACT Vohwinkel syndrome - ichthyosis Epidermolysis bullosa simplex, Dowling-Meara type Epidermolysis bullosa simplex, herpetiformis Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847] ICD10:Q81.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal dominant; Orphanet ID- 11422 Gene [OrphaNum:122913 ; Name:Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ; Symbol:KRT5 ; xref: GENATLAS:KRT5 ; xref: HGNC:6442 ; xref: OMIM:148040 ; xref: UNIPROTKB/SWISSPROT:P13647 ; xref: ENSEMBL:ENSG00000186081 ; xref: REACTOME:P13647] OMIM:131760 Epidermolysis bullosa simplex, herpetiformis EXACT Epidermolysis bullosa simplex, herpetiformis Epidermolysis bullosa simplex with mottled pigmentation prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q81.0 Gene [OrphaNum:122913 ; Name:Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ; Symbol:KRT5 ; xref: GENATLAS:KRT5 ; xref: HGNC:6442 ; xref: OMIM:148040 ; xref: UNIPROTKB/SWISSPROT:P13647 ; xref: ENSEMBL:ENSG00000186081 ; xref: REACTOME:P13647] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397 Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847] Orphanet ID- 11423 OMIM:131960 Epidermolysis bullosa simplex, Köbner type Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, generalized non-Dowling-Meara Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399 Gene [OrphaNum:122913 ; Name:Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ; Symbol:KRT5 ; xref: GENATLAS:KRT5 ; xref: HGNC:6442 ; xref: OMIM:148040 ; xref: UNIPROTKB/SWISSPROT:P13647 ; xref: ENSEMBL:ENSG00000186081 ; xref: REACTOME:P13647] Orphanet ID- 11425 Epidermolysis bullosa simplex, generalized non-Dowling-Meara Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; ICD10:Q81.0 OMIM:131900 Epidermolysis bullosa simplex, Koebner type EXACT Epidermolysis bullosa simplex, generalized non-Dowling-Meara EXACT Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex, localized Epidermolysis bullosa simplex of palms and soles Orphanet ID- 11426 ICD10:Q81.0 Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400 Epidermolysis bullosa simplex, localized Gene [OrphaNum:122913 ; Name:Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ; Symbol:KRT5 ; xref: GENATLAS:KRT5 ; xref: HGNC:6442 ; xref: OMIM:148040 ; xref: UNIPROTKB/SWISSPROT:P13647 ; xref: ENSEMBL:ENSG00000186081 ; xref: REACTOME:P13647] OMIM:131800 EXACT Epidermolysis bullosa simplex, localized EXACT Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex, Ogna type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 ICD10:Q81.0 Gene [OrphaNum:117877 ; Name:Plectin ; Symbol:PLEC ; xref: HGNC:9069 ; xref: GENATLAS:PLEC ; xref: OMIM:601282 ; xref: UNIPROTKB/SWISSPROT:Q15149 ; xref: REACTOME:Q15149 ; xref: ENSEMBL:ENSG00000178209] Orphanet ID- 11427 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:131950 Generalized junctional epidermolysis bullosa, non-Herlitz type GABEB Generalized atrophic benign epidermolysis bullosa OMIM:226650 Generalized atrophic benign epidermolysis bullosa ICD10:Q81.8 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122708 ; Name:Integrin, beta 4 ; Symbol:ITGB4 ; xref: GENATLAS:ITGB4 ; xref: HGNC:6158 ; xref: OMIM:147557 ; xref: UNIPROTKB/SWISSPROT:P16144 ; xref: REACTOME:P16144 ; xref: ENSEMBL:ENSG00000132470] GABEB Gene [OrphaNum:122980 ; Name:Laminin, gamma 2 ; Symbol:LAMC2 ; xref: GENATLAS:LAMC2 ; xref: HGNC:6493 ; xref: OMIM:150292 ; xref: UNIPROTKB/SWISSPROT:Q13753 ; xref: REACTOME:Q13753 ; xref: ENSEMBL:ENSG00000058085] Gene [OrphaNum:122974 ; Name:Laminin, beta 3 ; Symbol:LAMB3 ; xref: GENATLAS:LAMB3 ; xref: HGNC:6490 ; xref: OMIM:150310 ; xref: UNIPROTKB/SWISSPROT:Q13751 ; xref: ENSEMBL:ENSG00000196878 ; xref: REACTOME:Q13751] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 Gene [OrphaNum:122964 ; Name:Laminin, alpha 3 ; Symbol:LAMA3 ; xref: GENATLAS:LAMA3 ; xref: HGNC:6483 ; xref: OMIM:600805 ; xref: UNIPROTKB/SWISSPROT:Q16787 ; xref: REACTOME:Q16787 ; xref: ENSEMBL:ENSG00000053747] Orphanet ID- 11428 Gene [OrphaNum:120698 ; Name:Collagen, type XVII, alpha 1 ; Symbol:COL17A1 ; xref: GENATLAS:COL17A1 ; xref: HGNC:2194 ; xref: OMIM:113811 ; xref: UNIPROTKB/SWISSPROT:Q9UMD9 ; xref: ENSEMBL:ENSG00000065618 ; xref: REACTOME:Q9UMD9] EXACT GABEB EXACT Generalized atrophic benign epidermolysis bullosa Junctional epidermolysis bullosa - pyloric atresia Gene [OrphaNum:122708 ; Name:Integrin, beta 4 ; Symbol:ITGB4 ; xref: GENATLAS:ITGB4 ; xref: HGNC:6158 ; xref: OMIM:147557 ; xref: UNIPROTKB/SWISSPROT:P16144 ; xref: REACTOME:P16144 ; xref: ENSEMBL:ENSG00000132470] ICD10:Q40.0 Orphanet ID- 11429 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122695 ; Name:Integrin, alpha 6 ; Symbol:ITGA6 ; xref: GENATLAS:ITGA6 ; xref: HGNC:6142 ; xref: OMIM:147556 ; xref: UNIPROTKB/SWISSPROT:P23229 ; xref: ENSEMBL:ENSG00000091409 ; xref: REACTOME:P23229] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 OMIM:226730 ICD10:Q81.8 Junctional epidermolysis bullosa, Herlitz type Junctional epidermolysis bullosa generalisata gravis OMIM:226700 ICD10:Q82.1 Gene [OrphaNum:122974 ; Name:Laminin, beta 3 ; Symbol:LAMB3 ; xref: GENATLAS:LAMB3 ; xref: HGNC:6490 ; xref: OMIM:150310 ; xref: UNIPROTKB/SWISSPROT:Q13751 ; xref: ENSEMBL:ENSG00000196878 ; xref: REACTOME:Q13751] Junctional epidermolysis bullosa generalisata gravis Orphanet ID- 11430 Gene [OrphaNum:122964 ; Name:Laminin, alpha 3 ; Symbol:LAMA3 ; xref: GENATLAS:LAMA3 ; xref: HGNC:6483 ; xref: OMIM:600805 ; xref: UNIPROTKB/SWISSPROT:Q16787 ; xref: REACTOME:Q16787 ; xref: ENSEMBL:ENSG00000053747] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 Gene [OrphaNum:122980 ; Name:Laminin, gamma 2 ; Symbol:LAMC2 ; xref: GENATLAS:LAMC2 ; xref: HGNC:6493 ; xref: OMIM:150292 ; xref: UNIPROTKB/SWISSPROT:Q13753 ; xref: REACTOME:Q13753 ; xref: ENSEMBL:ENSG00000058085] EXACT Junctional epidermolysis bullosa generalisata gravis Junctional epidermolysis bullosa inversa ICD10:Q81.8 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405 Orphanet ID- 11431 Late-onset junctional epidermolysis bullosa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 ICD10:Q81.8 Orphanet ID- 11432 prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type DDEB, Cockayne-Touraine type Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] OMIM:131750 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 11433 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79407 DDEB, Cockayne-Touraine type ICD10:Q81.2 EXACT DDEB, Cockayne-Touraine type Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis RDEB generalisata gravis RDEB, Hallopeau-Siemens type OMIM:226600 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; RDEB, Hallopeau-Siemens type Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] RDEB generalisata gravis Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis ICD10:Q81.2 Orphanet ID- 11434 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 EXACT RDEB generalisata gravis EXACT RDEB, Hallopeau-Siemens type EXACT Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis Dystrophic epidermolysis bullosa inversa ICD10:Q81.2 OMIM:226600 Orphanet ID- 11435 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] OMIM:132000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 Pretibial dystrophic epidermolysis bullosa ICD10:Q81.2 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] Orphanet ID- 11436 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:131850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 Transient bullous dermolysis of the newborn Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 Orphanet ID- 11437 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:131705 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] ICD10:Q81.2 Woolly hair nevus Wooly hair nevus Wooly hair nevus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q84.1 Orphanet ID- 11440 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414 EXACT Wooly hair nevus Familial segmental neurofibromatosis ICD10:Q85.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79428 Orphanet ID- 11454 Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial spinal neurofibromatosis Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712] Orphanet ID- 11455 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q85.0 OMIM:162210 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79429 Hermansky-Pudlak syndrome HPS ICD10:E70.3 HPS Orphanet ID- 11456 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; EXACT HPS Oculocutaneous albinism type 1A OCA-1A Tyrosinase-negative oculocutaneous albinism Gene [OrphaNum:120353 ; Name:Tyrosinase (oculocutaneous albinism IA) ; Symbol:TYR ; xref: ENSEMBL:ENSG00000077498 ; xref: GENATLAS:TYR ; xref: HGNC:12442 ; xref: OMIM:606933 ; xref: UNIPROTKB/SWISSPROT:P14679] ICD10:E70.3 Orphanet ID- 11457 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 OMIM:203100 OCA-1A Tyrosinase-negative oculocutaneous albinism EXACT OCA-1A EXACT Tyrosinase-negative oculocutaneous albinism Oculocutaneous albinism type 2 OCA-2 Tyrosinase-positive oculocutaneous albinism Orphanet ID- 11458 Tyrosinase-positive oculocutaneous albinism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 OMIM:203200 OCA-2 Gene [OrphaNum:139778 ; Name:Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) ; Symbol:MC1R ; xref: UNIPROTKB/SWISSPROT:Q01726 ; xref: GENATLAS:MC1R ; xref: HGNC:6929 ; xref: OMIM:155555 ; xref: REACTOME:Q01726 ; xref: IUPHAR:282 ; xref: ENSEMBL:ENSG00000258839] Gene [OrphaNum:123974 ; Name:Oculocutaneous albinism II (pink-eye dilution homolog, mouse) ; Symbol:OCA2 ; xref: GENATLAS:OCA2 ; xref: HGNC:8101 ; xref: OMIM:611409 ; xref: UNIPROTKB/SWISSPROT:Q04671 ; xref: ENSEMBL:ENSG00000104044] ICD10:E70.3 EXACT Tyrosinase-positive oculocutaneous albinism EXACT OCA-2 Oculocutaneous albinism type 3 OCA-3 Red oculocutaneous albinism Rufous oculocutaneous albinism Xanthous oculocutaneous albinism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OCA-3 Rufous oculocutaneous albinism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 Red oculocutaneous albinism Orphanet ID- 11459 ICD10:E70.3 OMIM:203290 Gene [OrphaNum:120361 ; Name:Tyrosinase-related protein 1 ; Symbol:TYRP1 ; xref: GENATLAS:TYRP1 ; xref: HGNC:12450 ; xref: OMIM:115501 ; xref: UNIPROTKB/SWISSPROT:P17643 ; xref: ENSEMBL:ENSG00000107165] Xanthous oculocutaneous albinism EXACT OCA-3 EXACT Rufous oculocutaneous albinism EXACT Xanthous oculocutaneous albinism EXACT Red oculocutaneous albinism Oculocutaneous albinism type 1B OCA-1B Oculocutaneous albinism type Amish Platinum oculocutaneous albinism Temperature-sensitive oculocutaneous albinism Yellow oculocutaneous albinism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Oculocutaneous albinism type Amish OCA-1B Temperature-sensitive oculocutaneous albinism Yellow oculocutaneous albinism Gene [OrphaNum:120353 ; Name:Tyrosinase (oculocutaneous albinism IA) ; Symbol:TYR ; xref: ENSEMBL:ENSG00000077498 ; xref: GENATLAS:TYR ; xref: HGNC:12442 ; xref: OMIM:606933 ; xref: UNIPROTKB/SWISSPROT:P14679] Orphanet ID- 11460 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 Platinum oculocutaneous albinism OMIM:606952 ICD10:E70.3 EXACT Platinum oculocutaneous albinism EXACT Temperature-sensitive oculocutaneous albinism EXACT Oculocutaneous albinism type Amish EXACT OCA-1B EXACT Yellow oculocutaneous albinism Oculocutaneous albinism type 4 OCA-4 Orphanet ID- 11461 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 Gene [OrphaNum:119665 ; Name:Solute carrier family 45, member 2 ; Symbol:SLC45A2 ; xref: GENATLAS:SLC45A2 ; xref: HGNC:16472 ; xref: OMIM:606202 ; xref: UNIPROTKB/SWISSPROT:Q9UMX9 ; xref: ENSEMBL:ENSG00000164175] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OCA-4 ICD10:E70.3 OMIM:606574 EXACT OCA-4 Hirschsprung disease with pigmentary anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79438 Orphanet ID- 11464 Pseudohypoparathyroidism type 1A AHO - PHP Ia Albright hereditary osteodystrophy - PHP Ia Orphanet ID- 11469 AHO - PHP Ia OMIM:103580 Albright hereditary osteodystrophy - PHP Ia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E20.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] EXACT AHO - PHP Ia EXACT Albright hereditary osteodystrophy - PHP Ia Pseudohypoparathyroidism type 1C ICD10:E20.1 Orphanet ID- 11470 OMIM:612462 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pseudopseudohypoparathyroidism AHO - PPHP Albright hereditary osteodystrophy - PPHP prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Albright hereditary osteodystrophy - PPHP OMIM:612463 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 AHO - PPHP ICD10:E20.1 Orphanet ID- 11471 Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] EXACT Albright hereditary osteodystrophy - PPHP EXACT AHO - PPHP Multiple pterygium syndrome, Aslan type Orphanet ID- 11472 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79446 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Multiple pterygium syndrome, X-linked prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:312150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447 Orphanet ID- 11473 Escobar syndrome Multiple pterygium Non-lethal multiple pterygium syndrome Universal pterygium Universal pterygium Gene [OrphaNum:119428 ; Name:Cholinergic receptor, nicotinic, gamma ; Symbol:CHRNG ; xref: GENATLAS:CHRNG ; xref: HGNC:1967 ; xref: OMIM:100730 ; xref: UNIPROTKB/SWISSPROT:P07510 ; xref: REACTOME:P07510 ; xref: IUPHAR:475 ; xref: ENSEMBL:ENSG00000196811] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:265000 Orphanet ID- 11475 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79449 Non-lethal multiple pterygium syndrome Multiple pterygium EXACT Universal pterygium EXACT Multiple pterygium EXACT Non-lethal multiple pterygium syndrome Non hereditary congenital primary lymphedema Milroy-like disease Milroy-like disease ICD10:Q82.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79450 Orphanet ID- 11476 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Milroy-like disease Milroy disease Hereditary lymphedema type I Hereditary lymphedema type I OMIM:153100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 Gene [OrphaNum:121872 ; Name:Fms-related tyrosine kinase 4 ; Symbol:FLT4 ; xref: GENATLAS:FLT4 ; xref: HGNC:3767 ; xref: OMIM:136352 ; xref: UNIPROTKB/SWISSPROT:P35916 ; xref: ENSEMBL:ENSG00000037280 ; xref: REACTOME:P35916] OMIM:613480 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:247440 ICD10:Q82.0 Orphanet ID- 11478 OMIM:611944 Gene [OrphaNum:122110 ; Name:Gap junction protein, gamma 2, 47kDa ; Symbol:GJC2 ; xref: GENATLAS:GJC2 ; xref: HGNC:17494 ; xref: OMIM:608803 ; xref: UNIPROTKB/SWISSPROT:Q5T442 ; xref: REACTOME:Q5T442 ; xref: ENSEMBL:ENSG00000198835] EXACT Hereditary lymphedema type I Congenital hypotrichosis milia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11484 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79458 Follicular atrophoderma-basal cell carcinoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11485 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79459 Non-distal trisomy 10q Non-distal duplication 10q Non-telomeric trisomy 10q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Non-telomeric trisomy 10q Non-distal duplication 10q ICD10:Q92.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 Orphanet ID- 1149 EXACT Non-distal duplication 10q EXACT Non-telomeric trisomy 10q Porphyria variegata Protoporphyrinogen oxidase deficiency Variegate porphyria Variegate porphyria OMIM:176200 ICD10:E80.2 Orphanet ID- 11499 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Gene [OrphaNum:117969 ; Name:Protoporphyrinogen oxidase ; Symbol:PPOX ; xref: GENATLAS:PPOX ; xref: HGNC:9280 ; xref: OMIM:600923 ; xref: UNIPROTKB/SWISSPROT:P50336 ; xref: REACTOME:P50336 ; xref: ENSEMBL:ENSG00000143224] Protoporphyrinogen oxidase deficiency Gene [OrphaNum:123411 ; Name:Hemochromatosis gene ; Symbol:HFE ; xref: OMIM:613609 ; xref: GENATLAS:HFE ; xref: HGNC:4886 ; xref: UNIPROTKB/SWISSPROT:Q30201 ; xref: ENSEMBL:ENSG00000010704] EXACT Protoporphyrinogen oxidase deficiency EXACT Variegate porphyria Non-distal trisomy 12p Non-distal duplication 12p Non-telomeric trisomy 12p ICD10:Q92.3 Non-distal duplication 12p Orphanet ID- 1150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699 Non-telomeric trisomy 12p prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; EXACT Non-telomeric trisomy 12p EXACT Non-distal duplication 12p Atypical Werner syndrome Atypical progeroid syndrome Atypical progeroid syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E34.8 Orphanet ID- 11500 EXACT Atypical progeroid syndrome Griscelli disease type 1 hypopigmentation - neurologic impairment hypopigmentation - neurologic impairment Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 OMIM:214450 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11502 Gene [OrphaNum:123645 ; Name:Myosin VA (heavy chain 12, myoxin) ; Symbol:MYO5A ; xref: GENATLAS:MYO5A ; xref: HGNC:7602 ; xref: OMIM:160777 ; xref: UNIPROTKB/SWISSPROT:Q9Y4I1 ; xref: ENSEMBL:ENSG00000197535 ; xref: REACTOME:Q9Y4I1] EXACT hypopigmentation - neurologic impairment Griscelli disease type 2 Hypopigmentation - immunodeficiency with or without neurologic impairment Gene [OrphaNum:118188 ; Name:RAB27A, member RAS oncogene family ; Symbol:RAB27A ; xref: GENATLAS:RAB27A ; xref: HGNC:9766 ; xref: OMIM:603868 ; xref: UNIPROTKB/SWISSPROT:P51159 ; xref: REACTOME:P51159 ; xref: ENSEMBL:ENSG00000069974] OMIM:607624 Orphanet ID- 11503 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Hypopigmentation - immunodeficiency with or without neurologic impairment Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 EXACT Hypopigmentation - immunodeficiency with or without neurologic impairment Griscelli disease type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 Gene [OrphaNum:123645 ; Name:Myosin VA (heavy chain 12, myoxin) ; Symbol:MYO5A ; xref: GENATLAS:MYO5A ; xref: HGNC:7602 ; xref: OMIM:160777 ; xref: UNIPROTKB/SWISSPROT:Q9Y4I1 ; xref: ENSEMBL:ENSG00000197535 ; xref: REACTOME:Q9Y4I1] Gene [OrphaNum:123279 ; Name:Melanophilin ; Symbol:MLPH ; xref: GENATLAS:MLPH ; xref: HGNC:29643 ; xref: OMIM:606526 ; xref: UNIPROTKB/SWISSPROT:Q9BV36 ; xref: ENSEMBL:ENSG00000115648] Orphanet ID- 11504 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609227 Cutis verticis gyrata - thyroid aplasia - intellectual deficit Akesson syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79482 Orphanet ID- 11508 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Akesson syndrome EXACT Akesson syndrome Phakomatosis cesioflammea Phakomatosis pigmentovascularis type 2 Phakomatosis pigmentovascularis type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 Orphanet ID- 11509 ICD10:Q85.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Phakomatosis pigmentovascularis type 2 Phakomatosis cesiomarmorata Phakomatosis pigmentovascularis type 5 Phakomatosis pigmentovascularis type 5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q85.8 Orphanet ID- 11510 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 EXACT Phakomatosis pigmentovascularis type 5 Phakomatosis spilorosea Phakomatosis pigmentovascularis type 3 Orphanet ID- 11511 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485 Phakomatosis pigmentovascularis type 3 ICD10:Q85.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Phakomatosis pigmentovascularis type 3 Pili multibifurcati Orphanet ID- 11517 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79491 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pili gemini Pili multigemini prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492 Orphanet ID- 11518 Pili multigemini EXACT Pili multigemini Brooke-Spiegler syndrome OMIM:132700 OMIM:601606 OMIM:605041 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11519 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493 X-linked congenital generalized hypertrichosis Congenital generalized hypertrichosis, Macias-Flores type Macias Flores-Garcia Cruz-Rivera syndrome Congenital generalized hypertrichosis, Macias-Flores type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:138386 ; Name:SRY (sex determining region Y)-box 3 ; Symbol:SOX3 ; xref: GENATLAS:SOX3 ; xref: HGNC:11199 ; xref: OMIM:313430 ; xref: UNIPROTKB/SWISSPROT:P41225 ; xref: ENSEMBL:ENSG00000134595] Macias Flores-Garcia Cruz-Rivera syndrome Orphanet ID- 11521 EXACT Congenital generalized hypertrichosis, Macias-Flores type EXACT Macias Flores-Garcia Cruz-Rivera syndrome Deafness - onychodystrophy, autosomal dominant DDOD syndrome DDOD syndrome Orphanet ID- 11525 ICD10:Q87.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:124480 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 EXACT DDOD syndrome Deafness - onychodystrophy, autosomal recessive DOOR syndrome Deafness - onycho-osteodystrophy - intellectual deficit Deafness - onychodystrophy - osteodystrophy - intellectual deficit prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:220500 ICD10:Q87.8 Deafness - onychodystrophy - osteodystrophy - intellectual deficit Deafness - onycho-osteodystrophy - intellectual deficit DOOR syndrome Orphanet ID- 11526 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 EXACT DOOR syndrome EXACT Deafness - onychodystrophy - osteodystrophy - intellectual deficit EXACT Deafness - onycho-osteodystrophy - intellectual deficit Palmoplantar punctate keratoderma type 1 Buschke-Fischer-Brauer syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 Buschke-Fischer-Brauer syndrome Orphanet ID- 11527 OMIM:114140 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Buschke-Fischer-Brauer syndrome Palmoplantar punctate keratoderma type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11528 Ichthyosis Curth-Macklin Ichthyosis hystrix, Curth-Macklin type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503 Gene [OrphaNum:122887 ; Name:Keratin 1 ; Symbol:KRT1 ; xref: GENATLAS:KRT1 ; xref: HGNC:6412 ; xref: OMIM:139350 ; xref: UNIPROTKB/SWISSPROT:P04264 ; xref: ENSEMBL:ENSG00000167768] OMIM:146590 Orphanet ID- 11529 ICD10:Q80.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ichthyosis hystrix, Curth-Macklin type EXACT Ichthyosis hystrix, Curth-Macklin type Non-distal trisomy 13q Non-distal duplication 13q Non-telomeric trisomy 13q Orphanet ID- 1153 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702 Non-telomeric trisomy 13q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.3 Non-distal duplication 13q EXACT Non-distal duplication 13q EXACT Non-telomeric trisomy 13q Ichthyosis hystrix gravior Ichthyosis, Lambert type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79504 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ichthyosis, Lambert type ICD10:Q80.0 OMIM:146600 Orphanet ID- 11530 EXACT Ichthyosis, Lambert type Cholesterol-ester transfer protein deficiency CEPT deficiency Familial hyperalphalipoproteinemia ICD10:E78.4 Gene [OrphaNum:119357 ; Name:Cholesteryl ester transfer protein, plasma ; Symbol:CETP ; xref: GENATLAS:CETP ; xref: HGNC:1869 ; xref: OMIM:118470 ; xref: UNIPROTKB/SWISSPROT:P11597 ; xref: REACTOME:P11597 ; xref: ENSEMBL:ENSG00000087237] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:143470 Orphanet ID- 11532 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79506 Gene [OrphaNum:160053 ; Name:Apolipoprotein C-III ; Symbol:APOC3 ; xref: GENATLAS:APOC3 ; xref: OMIM:107720 ; xref: HGNC:610 ; xref: UNIPROTKB/SWISSPROT:P02656 ; xref: REACTOME:P02656 ; xref: ENSEMBL:ENSG00000110245] Familial hyperalphalipoproteinemia OMIM:614028 CEPT deficiency EXACT Familial hyperalphalipoproteinemia EXACT CEPT deficiency Hypotonia - failure to thrive - microcephaly LTC4 synthase deficiency Leukotriene C4 synthase deficiency OMIM:614037 Gene [OrphaNum:123313 ; Name:Leukotriene C4 synthase ; Symbol:LTC4S ; xref: ENSEMBL:ENSG00000213316 ; xref: GENATLAS:LTC4S ; xref: HGNC:6719 ; xref: OMIM:246530 ; xref: UNIPROTKB/SWISSPROT:Q16873 ; xref: REACTOME:Q16873] Leukotriene C4 synthase deficiency LTC4 synthase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507 Orphanet ID- 11533 EXACT LTC4 synthase deficiency EXACT Leukotriene C4 synthase deficiency Mosaic trisomy 14 Orphanet ID- 1154 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703 Autosomal recessive hyperinsulinism due to SUR1 deficiency Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:117665 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ; Symbol:ABCC8 ; xref: GENATLAS:ABCC8 ; xref: HGNC:59 ; xref: OMIM:600509 ; xref: UNIPROTKB/SWISSPROT:Q09428 ; xref: ENSEMBL:ENSG00000006071 ; xref: REACTOME:Q09428] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 Orphanet ID- 11541 ICD10:E16.1 OMIM:256450 Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency EXACT Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency ICD10:E16.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654] Orphanet ID- 11542 OMIM:601820 EXACT Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Mild hyperphenylalaninemia Mild HPA Non-PKU HPA mHPA Non-PKU HPA prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 Mild HPA mHPA ICD10:E70.1 Orphanet ID- 11543 Gene [OrphaNum:124068 ; Name:Phenylalanine hydroxylase ; Symbol:PAH ; xref: GENATLAS:PAH ; xref: HGNC:8582 ; xref: OMIM:612349 ; xref: UNIPROTKB/SWISSPROT:P00439 ; xref: REACTOME:P00439 ; xref: ENSEMBL:ENSG00000171759] EXACT Mild HPA EXACT Non-PKU HPA EXACT mHPA Gardner syndrome Gene [OrphaNum:123393 ; Name:Adenomatosis polyposis coli gene ; Symbol:APC ; xref: GENATLAS:APC ; xref: HGNC:583 ; xref: UNIPROTKB/SWISSPROT:P25054 ; xref: OMIM:611731 ; xref: REACTOME:P25054 ; xref: ENSEMBL:ENSG00000134982] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:175100 Orphanet ID- 11544 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79665 Ehlers-Danlos syndrome with periventricular heterotopia EDS with periventricular heterotopia OMIM:300537 Orphanet ID- 11546 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82004 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked dominant; Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] EDS with periventricular heterotopia ICD10:Q79.6 EXACT EDS with periventricular heterotopia Distal trisomy 14q Distal duplication 14q Telomeric duplication 14q Trisomy 14qter Trisomy 14qter Orphanet ID- 1156 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 ICD10:Q92.3 Distal duplication 14q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 14q EXACT Trisomy 14qter EXACT Distal duplication 14q EXACT Telomeric duplication 14q Proximal spinal muscular atrophy type 1 Infantile spinal muscular atrophy SMA-I SMA1 Werdnig-Hoffmann disease Gene [OrphaNum:133452 ; Name:Survival of motor neuron 1, telomeric ; Symbol:SMN1 ; xref: GENATLAS:SMN1 ; xref: HGNC:11117 ; xref: OMIM:600354 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: REACTOME:Q16637 ; xref: ENSEMBL:ENSG00000172062] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330 Infantile spinal muscular atrophy SMA-I Gene [OrphaNum:119750 ; Name:Survival of motor neuron 2, centromeric ; Symbol:SMN2 ; xref: GENATLAS:SMN2 ; xref: HGNC:11118 ; xref: OMIM:601627 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: ENSEMBL:ENSG00000205571 ; xref: REACTOME:Q16637] SMA1 Orphanet ID- 11563 Werdnig-Hoffmann disease Gene [OrphaNum:123680 ; Name:NLR family, apoptosis inhibitory protein ; Symbol:NAIP ; xref: GENATLAS:NAIP ; xref: HGNC:7634 ; xref: OMIM:600355 ; xref: UNIPROTKB/SWISSPROT:Q13075 ; xref: ENSEMBL:ENSG00000249437] OMIM:253300 ICD10:G12.0 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Werdnig-Hoffmann disease EXACT Infantile spinal muscular atrophy EXACT SMA-I EXACT SMA1 Proximal spinal muscular atrophy type 2 Chronic infantile spinal muscular atrophy Chronic spinal muscular atrophy Intermediate spinal muscular atrophy SMA-II SMA2 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418 Orphanet ID- 11565 SMA-II Gene [OrphaNum:123680 ; Name:NLR family, apoptosis inhibitory protein ; Symbol:NAIP ; xref: GENATLAS:NAIP ; xref: HGNC:7634 ; xref: OMIM:600355 ; xref: UNIPROTKB/SWISSPROT:Q13075 ; xref: ENSEMBL:ENSG00000249437] Gene [OrphaNum:133452 ; Name:Survival of motor neuron 1, telomeric ; Symbol:SMN1 ; xref: GENATLAS:SMN1 ; xref: HGNC:11117 ; xref: OMIM:600354 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: REACTOME:Q16637 ; xref: ENSEMBL:ENSG00000172062] Intermediate spinal muscular atrophy Chronic infantile spinal muscular atrophy OMIM:253550 Chronic spinal muscular atrophy ICD10:G12.1 SMA2 Gene [OrphaNum:119750 ; Name:Survival of motor neuron 2, centromeric ; Symbol:SMN2 ; xref: GENATLAS:SMN2 ; xref: HGNC:11118 ; xref: OMIM:601627 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: ENSEMBL:ENSG00000205571 ; xref: REACTOME:Q16637] EXACT Chronic infantile spinal muscular atrophy EXACT SMA-II EXACT SMA2 EXACT Intermediate spinal muscular atrophy EXACT Chronic spinal muscular atrophy Proximal spinal muscular atrophy type 3 Juvenile spinal muscular atrophy Kugelberg-Welander disease SMA-III SMA3 Type 3 SMA Kugelberg-Welander disease Orphanet ID- 11566 Type 3 SMA OMIM:253400 Gene [OrphaNum:123680 ; Name:NLR family, apoptosis inhibitory protein ; Symbol:NAIP ; xref: GENATLAS:NAIP ; xref: HGNC:7634 ; xref: OMIM:600355 ; xref: UNIPROTKB/SWISSPROT:Q13075 ; xref: ENSEMBL:ENSG00000249437] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Juvenile spinal muscular atrophy SMA-III Gene [OrphaNum:119750 ; Name:Survival of motor neuron 2, centromeric ; Symbol:SMN2 ; xref: GENATLAS:SMN2 ; xref: HGNC:11118 ; xref: OMIM:601627 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: ENSEMBL:ENSG00000205571 ; xref: REACTOME:Q16637] ICD10:G12.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419 Gene [OrphaNum:133452 ; Name:Survival of motor neuron 1, telomeric ; Symbol:SMN1 ; xref: GENATLAS:SMN1 ; xref: HGNC:11117 ; xref: OMIM:600354 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: REACTOME:Q16637 ; xref: ENSEMBL:ENSG00000172062] SMA3 EXACT Juvenile spinal muscular atrophy EXACT Kugelberg-Welander disease EXACT SMA3 EXACT Type 3 SMA EXACT SMA-III Proximal spinal muscular atrophy type 4 SMA-IV SMA4 Spinal muscular atrophy, adult form Orphanet ID- 11567 SMA-IV Gene [OrphaNum:133452 ; Name:Survival of motor neuron 1, telomeric ; Symbol:SMN1 ; xref: GENATLAS:SMN1 ; xref: HGNC:11117 ; xref: OMIM:600354 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: REACTOME:Q16637 ; xref: ENSEMBL:ENSG00000172062] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420 SMA4 ICD10:G12.1 OMIM:271150 Gene [OrphaNum:119750 ; Name:Survival of motor neuron 2, centromeric ; Symbol:SMN2 ; xref: GENATLAS:SMN2 ; xref: HGNC:11118 ; xref: OMIM:601627 ; xref: UNIPROTKB/SWISSPROT:Q16637 ; xref: ENSEMBL:ENSG00000205571 ; xref: REACTOME:Q16637] Spinal muscular atrophy, adult form prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; EXACT SMA4 EXACT Spinal muscular atrophy, adult form EXACT SMA-IV Inappropriate antidiuretic hormone secretion syndrome SIADH Orphanet ID- 11568 OMIM:300539 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83449 SIADH Gene [OrphaNum:118947 ; Name:Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ; Symbol:AVPR2 ; xref: GENATLAS:AVPR2 ; xref: HGNC:897 ; xref: OMIM:300538 ; xref: UNIPROTKB/SWISSPROT:P30518 ; xref: ENSEMBL:ENSG00000126895 ; xref: IUPHAR:368 ; xref: REACTOME:P30518] ICD10:E22.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; EXACT SIADH Regional odontodysplasia Ghost teeth Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83450 Ghost teeth prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Unknown; ICD10:K00.4 Orphanet ID- 11569 EXACT Ghost teeth Florid cemento-osseous dysplasia Florid osseous dysplasia Focal cemento-osseous dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83451 ICD10:D16.4 OMIM:137575 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Orphanet ID- 11570 Florid osseous dysplasia Focal cemento-osseous dysplasia EXACT Focal cemento-osseous dysplasia EXACT Florid osseous dysplasia Glomuvenous malformation Glomangiomatosis Hereditary multiple glomangiomas Multiple glomus tumors VMGLOM Venous malformations with glomus cells Orphanet ID- 11573 Glomangiomatosis Gene [OrphaNum:122172 ; Name:Glomulin, FKBP associated protein ; Symbol:GLMN ; xref: GENATLAS:GLMN ; xref: HGNC:14373 ; xref: OMIM:601749 ; xref: UNIPROTKB/SWISSPROT:Q92990 ; xref: ENSEMBL:ENSG00000174842] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Venous malformations with glomus cells Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 VMGLOM OMIM:138000 ICD10:Q27.8 Multiple glomus tumors Hereditary multiple glomangiomas EXACT Hereditary multiple glomangiomas EXACT Venous malformations with glomus cells EXACT Multiple glomus tumors EXACT Glomangiomatosis EXACT VMGLOM Congenital primary aphakia OMIM:610256 Gene [OrphaNum:121900 ; Name:Forkhead box E3 ; Symbol:FOXE3 ; xref: GENATLAS:FOXE3 ; xref: HGNC:3808 ; xref: OMIM:601094 ; xref: UNIPROTKB/SWISSPROT:Q13461 ; xref: ENSEMBL:ENSG00000186790] prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:Q12.3 Orphanet ID- 11574 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 Microtia OMIM:128800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 OMIM:607842 OMIM:600674 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; Gene [OrphaNum:292088 ; Name:Teashirt zinc finger homeobox 1 ; Symbol:TSHZ1 ; xref: HGNC:10669 ; xref: OMIM:614427 ; xref: GENATLAS:TSHZ1 ; xref: UNIPROTKB/SWISSPROT:Q6ZSZ6 ; xref: ENSEMBL:ENSG00000179981] ICD10:Q17.2 Orphanet ID- 11575 Immunodeficiency due to absence of thymus Nezelof syndrome Thymic aplasia ICD10:D81.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83471 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Nezelof syndrome Thymic aplasia OMIM:242700 Orphanet ID- 11580 EXACT Thymic aplasia EXACT Nezelof syndrome CAMOS syndrome Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities SCAR5 Gene [OrphaNum:244368 ; Name:Zinc finger protein 592 ; Symbol:ZNF592 ; xref: GENATLAS:ZNF592 ; xref: HGNC:28986 ; xref: UNIPROTKB/SWISSPROT:Q92610 ; xref: OMIM:613624 ; xref: ENSEMBL:ENSG00000166716] ICD10:G11.1 Orphanet ID- 11581 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; SCAR5 OMIM:606937 Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 EXACT SCAR5 EXACT Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:610483 Orphanet ID- 11595 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 Macrostomia - preauricular tags - external ophthalmoplegia ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619 Orphanet ID- 11597 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Enteric anendocrinosis Enteric anendocrinosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; OMIM:610370 Gene [OrphaNum:123767 ; Name:Neurogenin 3 ; Symbol:NEUROG3 ; xref: GENATLAS:NEUROG3 ; xref: HGNC:13806 ; xref: OMIM:604882 ; xref: UNIPROTKB/SWISSPROT:Q9Y4Z2 ; xref: ENSEMBL:ENSG00000122859 ; xref: REACTOME:Q9Y4Z2] Orphanet ID- 11598 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 ICD10:K90.8 EXACT Enteric anendocrinosis PELVIS syndrome Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus Urorectal septum malformation sequence Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus Orphanet ID- 11599 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Urorectal septum malformation sequence Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 ICD10:Q87.8 EXACT Urorectal septum malformation sequence EXACT Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus Down syndrome Trisomy 21 Trisomy 21 OMIM:190685 Orphanet ID- 116 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; ICD10:Q90 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 OMIM:605296 EXACT Trisomy 21 17p11.2 microduplication syndrome Potocki-Lupski syndrome Trisomy 17p11.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Potocki-Lupski syndrome Orphanet ID- 1160 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 Trisomy 17p11.2 Gene [OrphaNum:118220 ; Name:Retinoic acid induced 1 ; Symbol:RAI1 ; xref: GENATLAS:RAI1 ; xref: HGNC:9834 ; xref: OMIM:607642 ; xref: UNIPROTKB/SWISSPROT:Q7Z5J4 ; xref: ENSEMBL:ENSG00000108557] OMIM:610883 ICD10:Q92.3 EXACT Trisomy 17p11.2 EXACT Potocki-Lupski syndrome Leukoencephalopathy - metaphyseal chondrodysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 OMIM:300660 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked recessive; ICD10:I67.3 Orphanet ID- 11600 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Gene [OrphaNum:117818 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class M ; Symbol:PIGM ; xref: GENATLAS:PIGM ; xref: HGNC:18858 ; xref: OMIM:610273 ; xref: UNIPROTKB/SWISSPROT:Q9H3S5 ; xref: REACTOME:Q9H3S5 ; xref: ENSEMBL:ENSG00000143315] OMIM:610293 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:E88.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 Orphanet ID- 11601 Microcytic anemia with liver iron overload Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Gene [OrphaNum:118732 ; Name:Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 ; Symbol:SLC11A2 ; xref: GENATLAS:SLC11A2 ; xref: HGNC:10908 ; xref: OMIM:600523 ; xref: UNIPROTKB/SWISSPROT:P49281 ; xref: REACTOME:P49281 ; xref: ENSEMBL:ENSG00000110911] Orphanet ID- 11602 ICD10:D50.8 OMIM:206100 X-linked recessive intellectual deficit - macrocephaly - ciliary dysfunction ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83648 Orphanet ID- 11603 Syndromic diarrhea Phenotypic diarrhea Syndromatic diarrhea Tricho-hepato-enteric syndrome Gene [OrphaNum:299641 ; Name:Superkiller viralicidic activity 2-like (S. cerevisiae) ; Symbol:SKIV2L ; xref: HGNC:10898 ; xref: OMIM:600478 ; xref: GENATLAS:SKIV2L ; xref: UNIPROTKB/SWISSPROT:Q15477] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Phenotypic diarrhea Tricho-hepato-enteric syndrome Orphanet ID- 11605 Gene [OrphaNum:238544 ; Name:Tetratricopeptide repeat domain 37 ; Symbol:TTC37 ; xref: ENSEMBL:ENSG00000198677 ; xref: HGNC:23639 ; xref: UNIPROTKB/SWISSPROT:Q6PGP7 ; xref: OMIM:614589 ; xref: GENATLAS:TTC37] Syndromatic diarrhea Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 OMIM:222470 OMIM:614602 EXACT Syndromatic diarrhea EXACT Phenotypic diarrhea EXACT Tricho-hepato-enteric syndrome Idiopathic malabsorption due to bile acid synthesis defects Idiopathic bile acid malabsorption ICD10:K90.8 Idiopathic bile acid malabsorption OMIM:607765 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84065 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11606 EXACT Idiopathic bile acid malabsorption Senior-Boichis syndrome Boichis disease Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081 Orphanet ID- 11612 OMIM:613550 Boichis disease Gene [OrphaNum:117853 ; Name:Polycystic kidney and hepatic disease 1 (autosomal recessive) ; Symbol:PKHD1 ; xref: GENATLAS:PKHD1 ; xref: HGNC:9016 ; xref: OMIM:606702 ; xref: UNIPROTKB/SWISSPROT:Q8TCZ9 ; xref: ENSEMBL:ENSG00000170927 ; xref: REACTOME:Q8TCZ9] Gene [OrphaNum:120140 ; Name:Transmembrane protein 67 ; Symbol:TMEM67 ; xref: GENATLAS:TMEM67 ; xref: HGNC:28396 ; xref: OMIM:609884 ; xref: UNIPROTKB/SWISSPROT:Q5HYA8 ; xref: ENSEMBL:ENSG00000164953] Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; OMIM:263200 EXACT Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit EXACT Boichis disease Hinman's syndrome HAS HS Hinman syndrome Hinman-Allen syndrome Non-neurogenic neurogenic bladder Occult neuropathic bladder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84085 Hinman syndrome Occult neuropathic bladder Non-neurogenic neurogenic bladder Hinman-Allen syndrome prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; ICD10:N31.9 HAS Orphanet ID- 11613 HS EXACT Hinman syndrome EXACT Non-neurogenic neurogenic bladder EXACT HS EXACT Hinman-Allen syndrome EXACT HAS EXACT Occult neuropathic bladder Fibronectin glomerulopathy GFND Glomerulopathy with fibronectin deposits prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; GFND OMIM:137950 OMIM:601894 Gene [OrphaNum:159592 ; Name:Fibronectin 1 ; Symbol:FN1 ; xref: GENATLAS:FN1 ; xref: HGNC:3778 ; xref: OMIM:135600 ; xref: UNIPROTKB/SWISSPROT:P02751 ; xref: ENSEMBL:ENSG00000115414 ; xref: REACTOME:P02751] Orphanet ID- 11615 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090 ICD10:N07.6 Glomerulopathy with fibronectin deposits EXACT Glomerulopathy with fibronectin deposits EXACT GFND Hereditary thermosensitive neuropathy OMIM:602107 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11616 ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093 Unknown leukodystrophy ICD10:E75.2 Orphanet ID- 11617 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84096 Desmin-related myopathy with Mallory body-like inclusions Early-onset desmin-related myopathy Gene [OrphaNum:118596 ; Name:Selenoprotein N, 1 ; Symbol:SEPN1 ; xref: GENATLAS:SEPN1 ; xref: HGNC:15999 ; xref: OMIM:606210 ; xref: UNIPROTKB/SWISSPROT:Q9NZV5 ; xref: ENSEMBL:ENSG00000162430] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Early-onset desmin-related myopathy OMIM:602771 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 ICD10:G71.8 Orphanet ID- 11618 EXACT Early-onset desmin-related myopathy Isaac's syndrome Acquired neuromyotonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84142 Orphanet ID- 11619 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Acquired neuromyotonia ICD10:G71.1 EXACT Acquired neuromyotonia Sporadic idiopathic steroid-resistant nephrotic syndrome Sporadic idiopathic nephrosis ICD10:N04.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84271 Orphanet ID- 11620 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Sporadic idiopathic nephrosis EXACT Sporadic idiopathic nephrosis Familial encephalopathy with neuroserpin inclusion bodies FENIB ICD10:G31.8 Orphanet ID- 11622 FENIB prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110 Gene [OrphaNum:118623 ; Name:Serpin peptidase inhibitor, clade I (neuroserpin), member 1 ; Symbol:SERPINI1 ; xref: GENATLAS:SERPINI1 ; xref: HGNC:8943 ; xref: OMIM:602445 ; xref: UNIPROTKB/SWISSPROT:Q99574 ; xref: ENSEMBL:ENSG00000163536] OMIM:604218 EXACT FENIB Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Orphanet ID- 11623 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; ICD10:Q82.8 OMIM:610644 Gene [OrphaNum:118415 ; Name:R-spondin homolog (Xenopus laevis) ; Symbol:RSPO1 ; xref: GENATLAS:RSPO1 ; xref: HGNC:21679 ; xref: OMIM:609595 ; xref: UNIPROTKB/SWISSPROT:Q2MKA7 ; xref: ENSEMBL:ENSG00000169218] Bothnia retinal dystrophy Västerbotten dystrophy ICD10:H35.5 Orphanet ID- 11624 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:118326 ; Name:Retinaldehyde binding protein 1 ; Symbol:RLBP1 ; xref: GENATLAS:RLBP1 ; xref: HGNC:10024 ; xref: OMIM:180090 ; xref: UNIPROTKB/SWISSPROT:P12271 ; xref: ENSEMBL:ENSG00000140522] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 Västerbotten dystrophy OMIM:607475 EXACT Västerbotten dystrophy Cystic leukoencephalopathy without megalencephaly CLWM CLWM Gene [OrphaNum:201560 ; Name:Ribonuclease T2 ; Symbol:RNASET2 ; xref: ENSEMBL:ENSG00000026297 ; xref: GENATLAS:RNASET2 ; xref: HGNC:21686 ; xref: UNIPROTKB/SWISSPROT:O00584 ; xref: OMIM:612944] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.2 OMIM:612951 Orphanet ID- 11625 EXACT CLWM Scapuloperoneal amyotrophy Kaeser syndrome Neurogenic scapuloperoneal syndrome Stark-Kaeser syndrome Gene [OrphaNum:140044 ; Name:Four and a half LIM domains 1 ; Symbol:FHL1 ; xref: UNIPROTKB/SWISSPROT:Q13642 ; xref: GENATLAS:FHL1 ; xref: HGNC:3702 ; xref: OMIM:300163 ; xref: ENSEMBL:ENSG00000022267] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant; Stark-Kaeser syndrome Neurogenic scapuloperoneal syndrome OMIM:181405 ICD10:G12.1 Orphanet ID- 11628 OMIM:181400 Gene [OrphaNum:121053 ; Name:Desmin ; Symbol:DES ; xref: GENATLAS:DES ; xref: HGNC:2770 ; xref: OMIM:125660 ; xref: UNIPROTKB/SWISSPROT:P17661 ; xref: REACTOME:P17661 ; xref: ENSEMBL:ENSG00000175084] OMIM:300695 Gene [OrphaNum:123621 ; Name:Myosin, heavy chain 7, cardiac muscle, beta ; Symbol:MYH7 ; xref: ENSEMBL:ENSG00000092054 ; xref: GENATLAS:MYH7 ; xref: HGNC:7577 ; xref: OMIM:160760 ; xref: UNIPROTKB/SWISSPROT:P12883] Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] Kaeser syndrome OMIM:181430 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 EXACT Kaeser syndrome EXACT Neurogenic scapuloperoneal syndrome EXACT Stark-Kaeser syndrome Facial onset sensory and motor neuronopathy FOSMN syndrome Orphanet ID- 11629 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Unknown; FOSMN syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162 ICD10:G60.0 EXACT FOSMN syndrome Hypomyelination - congenital cataract Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 ICD10:G37.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:121688 ; Name:Family with sequence similarity 126, member A ; Symbol:FAM126A ; xref: GENATLAS:FAM126A ; xref: HGNC:24587 ; xref: OMIM:610531 ; xref: UNIPROTKB/SWISSPROT:Q9BYI3 ; xref: ENSEMBL:ENSG00000122591] OMIM:610532 Orphanet ID- 11630 Camptodactyly - tall stature - scoliosis - hearing loss CATSHL syndrome Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] ICD10:Q87.2 Orphanet ID- 11631 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 CATSHL syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:610474 EXACT CATSHL syndrome Severe achondroplasia - developmental delay - acanthosis nigricans Cirrhosis associated with cardiac dysfunction SADDAN SADDAN Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] Cirrhosis associated with cardiac dysfunction Orphanet ID- 11632 ICD10:Q77.4 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:187600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 EXACT Cirrhosis associated with cardiac dysfunction EXACT SADDAN Platyspondylic dysplasia, Torrance type PLSD-T Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] ICD10:Q77.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; PLSD-T OMIM:151210 Orphanet ID- 11633 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type EXACT Platyspondylic lethal skeletal dysplasia, Torrance type EXACT PLSD-T EXACT Platyspondylic dysplasia, Torrance-Luton type Spondylometaphyseal dysplasia - cone-rod dystrophy SMD-CRD ICD10:H35.5 SMD-CRD Orphanet ID- 11634 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 OMIM:608940 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:Q77.8 EXACT SMD-CRD Craniofacial conodysplasia Orphanet ID- 11635 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:Q75.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168 Familial digital arthropathy-brachydactyly Orphanet ID- 11636 OMIM:606835 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] ICD10:M06.8 Mesomelic dysplasia, Savarirayan type Mesomelic dysplasia with absent fibulas and triangular tibias Triangular tibia - fibular aplasia prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; OMIM:605274 ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170 Mesomelic dysplasia with absent fibulas and triangular tibias Triangular tibia - fibular aplasia Orphanet ID- 11637 EXACT Mesomelic dysplasia with absent fibulas and triangular tibias EXACT Triangular tibia - fibular aplasia Microcephalic osteodysplastic dysplasia, Saul-Wilson type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 11639 ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 IMAGe syndrome Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies Orphanet ID- 11640 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:614732 ICD10:Q87.1 EXACT Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies Pseudodiastrophic dysplasia Orphanet ID- 11641 OMIM:264180 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174 Astley-Kendall dysplasia Orphanet ID- 11642 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; ICD10:Q77.3 Infantile osteopetrosis with neuroaxonal dysplasia ICD10:Q78.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 OMIM:600329 Orphanet ID- 11644 Diaphyseal medullary stenosis - bone malignancy Bone dysplasia - medullary fibrosarcoma Diaphyseal medullary stenosis - malignant fibrous histiocytoma Hardcastle syndrome Gene [OrphaNum:299625 ; Name:Methylthioadenosine phosphorylase ; Symbol:MTAP ; xref: HGNC:7413 ; xref: OMIM:156540 ; xref: GENATLAS:MTAP ; xref: UNIPROTKB/SWISSPROT:Q13126] Diaphyseal medullary stenosis - malignant fibrous histiocytoma Bone dysplasia - medullary fibrosarcoma Hardcastle syndrome ICD10:C41.9 Orphanet ID- 11645 ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 OMIM:112250 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Diaphyseal medullary stenosis - malignant fibrous histiocytoma EXACT Bone dysplasia - medullary fibrosarcoma EXACT Hardcastle syndrome Craniometadiaphyseal dysplasia, wormian bone type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184 ICD10:Q77.8 Orphanet ID- 11646 Endosteal sclerosis - cerebellar hypoplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 OMIM:213002 ICD10:G11.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 11647 Metaphyseal dysplasia, Braun-Tinschert type prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:605946 Orphanet ID- 11648 ICD10:Q78.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188 Singleton-Merten dysplasia Singleton-Merten syndrome Singleton-Merten syndrome ICD10:I71.2 OMIM:182250 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 Orphanet ID- 11649 EXACT Singleton-Merten syndrome Calvarial doughnut lesions - bone fragility Familial doughnut lesions of skull OMIM:126550 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192 ICD10:M85.0 Familial doughnut lesions of skull prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 11650 EXACT Familial doughnut lesions of skull Idiopathic juvenile osteoporosis IJO Juvenile osteoporosis prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 IJO OMIM:259750 ICD10:M81.8 Juvenile osteoporosis Orphanet ID- 11651 EXACT IJO EXACT Juvenile osteoporosis Spondylo-ocular syndrome OMIM:605822 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.0 Orphanet ID- 11652 Familial expansile osteolysis Hereditary expansile polyostotic osteolytic dysplasia McCabe's disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195 Gene [OrphaNum:120160 ; Name:Tumor necrosis factor receptor superfamily, member 11a, NFKB activator ; Symbol:TNFRSF11A ; xref: GENATLAS:TNFRSF11A ; xref: HGNC:11908 ; xref: OMIM:603499 ; xref: UNIPROTKB/SWISSPROT:Q9Y6Q6 ; xref: ENSEMBL:ENSG00000141655] McCabe's disease ICD10:M89.8 Orphanet ID- 11653 Hereditary expansile polyostotic osteolytic dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:174810 EXACT Hereditary expansile polyostotic osteolytic dysplasia EXACT McCabe's disease Nodulosis-arthropathy-osteolysis syndrome Multicentric osteolysis - nodulosis - arthropathy NAO syndrome NAO syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11654 Multicentric osteolysis - nodulosis - arthropathy Gene [OrphaNum:123439 ; Name:Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) ; Symbol:MMP2 ; xref: GENATLAS:MMP2 ; xref: HGNC:7166 ; xref: OMIM:120360 ; xref: UNIPROTKB/SWISSPROT:P08253 ; xref: ENSEMBL:ENSG00000087245 ; xref: REACTOME:P08253] ICD10:M89.8 OMIM:259600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85196 EXACT Multicentric osteolysis - nodulosis - arthropathy EXACT NAO syndrome Genochondromatosis prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 11655 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197 OMIM:137360 Dysspondyloenchondromatosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198 Orphanet ID- 11656 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Sporadic; Craniosynostosis - anal anomalies - porokeratosis CAP syndrome CDAGS syndrome CDAGS syndrome OMIM:603116 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 CAP syndrome Orphanet ID- 11657 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT CDAGS syndrome EXACT CAP syndrome Ischio-vertebral syndrome Ischio-spinal dysostosis Ischio-vertebral dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Ischio-vertebral dysplasia Ischio-spinal dysostosis Orphanet ID- 11658 EXACT Ischio-vertebral dysplasia EXACT Ischio-spinal dysostosis Genitopatellar syndrome Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit Gene [OrphaNum:285156 ; Name:K(lysine) Acetyltransferase 6B ; Symbol:KAT6B ; xref: HGNC:17582 ; xref: OMIM:605880 ; xref: UNIPROTKB/SWISSPROT:Q8WYB5 ; xref: ENSEMBL:ENSG00000156650 ; xref: GENATLAS:KAT6B] Orphanet ID- 11659 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:606170 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 EXACT Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit Keutel syndrome Pulmonic stenosis - brachytelephalangism - calcification of cartilages OMIM:245150 Pulmonic stenosis - brachytelephalangism - calcification of cartilages Orphanet ID- 11660 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 Gene [OrphaNum:123219 ; Name:Matrix Gla protein ; Symbol:MGP ; xref: GENATLAS:MGP ; xref: HGNC:7060 ; xref: OMIM:154870 ; xref: UNIPROTKB/SWISSPROT:P08493 ; xref: ENSEMBL:ENSG00000111341] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Pulmonic stenosis - brachytelephalangism - calcification of cartilages Acro-pectoral syndrome ACRP syndrome Syndactyly - preaxial polydactyly - sternal deformity prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203 Syndactyly - preaxial polydactyly - sternal deformity Orphanet ID- 11661 OMIM:605967 ACRP syndrome EXACT Syndactyly - preaxial polydactyly - sternal deformity EXACT ACRP syndrome Fetal Gaucher disease Perinatal lethal Gaucher disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 Orphanet ID- 11662 ICD10:E75.2 OMIM:608013 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Gene [OrphaNum:122039 ; Name:'Glucosidase, beta; acid (includes glucosylceramidase)' ; Symbol:GBA ; xref: GENATLAS:GBA ; xref: HGNC:4177 ; xref: OMIM:606463 ; xref: UNIPROTKB/SWISSPROT:P04062 ; xref: ENSEMBL:ENSG00000177628 ; xref: REACTOME:P04062] Perinatal lethal Gaucher disease EXACT Perinatal lethal Gaucher disease Intellectual deficit, X-linked, Abidi type Orphanet ID- 11663 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273 OMIM:300262 Syndromic X-linked intellectual deficit 7 MRXS7 X-linked intellectual deficit, Ahmad type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- X-linked recessive; X-linked intellectual deficit, Ahmad type OMIM:300218 MRXS7 Orphanet ID- 11664 EXACT MRXS7 EXACT X-linked intellectual deficit, Ahmad type Microphthalmia - ankyloblepharon - intellectual deficit MCOPS4 Syndromic microphthalmia type 4 OMIM:301590 MCOPS4 ICD10:Q11.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 Syndromic microphthalmia type 4 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11665 EXACT MCOPS4 EXACT Syndromic microphthalmia type 4 Intellectual deficit, X-linked, Armfield type Armfield syndrome OMIM:300261 Armfield syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11666 EXACT Armfield syndrome Intellectual deficit, X-linked, Cantagrel type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277 OMIM:300524 Orphanet ID- 11667 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:122838 ; Name:KIAA2022 ; Symbol:KIAA2022 ; xref: GENATLAS:KIAA2022 ; xref: HGNC:29433 ; xref: OMIM:300524 ; xref: UNIPROTKB/SWISSPROT:Q5QGS0 ; xref: ENSEMBL:ENSG00000050030] X-linked intellectual deficit, South African type Christianson syndrome X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; OMIM:300243 Gene [OrphaNum:158415 ; Name:Solute carrier family 9 (sodium/hydrogen exchanger), member 6 ; Symbol:SLC9A6 ; xref: GENATLAS:SLC9A6 ; xref: HGNC:11079 ; xref: OMIM:300231 ; xref: UNIPROTKB/SWISSPROT:Q92581 ; xref: ENSEMBL:ENSG00000198689 ; xref: REACTOME:Q92581] X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy Orphanet ID- 11668 Christianson syndrome EXACT X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy EXACT Christianson syndrome Syndromic X-linked intellectual deficit due to JARID1C mutation OMIM:300534 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:122732 ; Name:Lysine (K)-specific demethylase 5C ; Symbol:KDM5C ; xref: OMIM:314690 ; xref: UNIPROTKB/SWISSPROT:P41229 ; xref: GENATLAS:JARID1C ; xref: HGNC:11114 ; xref: ENSEMBL:ENSG00000126012] Orphanet ID- 11669 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 Intellectual deficit, X-linked - cubitus valgus - dysmorphism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11670 OMIM:300471 MEHMO syndrome X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity OMIM:300148 X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 Orphanet ID- 11672 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive; EXACT X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity Intellectual deficit, X-linked, Miles-Carpenter type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283 Orphanet ID- 11673 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:309605 BRESEK syndrome BRESHECK syndrome OMIM:308205 BRESHECK syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 Orphanet ID- 11674 Gene [OrphaNum:189135 ; Name:Membrane-bound transcription factor peptidase, site 2 ; Symbol:MBTPS2 ; xref: GENATLAS:MBTPS2 ; xref: HGNC:15455 ; xref: ENSEMBL:ENSG00000012174 ; xref: OMIM:300294 ; xref: UNIPROTKB/SWISSPROT:O43462 ; xref: REACTOME:O43462] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; EXACT BRESHECK syndrome Intellectual deficit, X-linked, Schimke type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:312840 Orphanet ID- 11675 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285 Intellectual deficit, X-linked, Shashi type Syndromic X-linked intellectual deficit type 11 Orphanet ID- 11676 OMIM:300238 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 Syndromic X-linked intellectual deficit type 11 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Syndromic X-linked intellectual deficit type 11 Intellectual deficit, X-linked, Siderius type OMIM:300263 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11677 Gene [OrphaNum:138583 ; Name:PHD finger protein 8 ; Symbol:PHF8 ; xref: GENATLAS:PHF8 ; xref: HGNC:20672 ; xref: OMIM:300560 ; xref: UNIPROTKB/SWISSPROT:Q9UPP1 ; xref: ENSEMBL:ENSG00000172943] Intellectual deficit, X-linked, Stocco Dos Santos type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11678 OMIM:300434 Gene [OrphaNum:118713 ; Name:Shroom family member 4 ; Symbol:SHROOM4 ; xref: GENATLAS:SHROOM4 ; xref: HGNC:29215 ; xref: OMIM:300579 ; xref: UNIPROTKB/SWISSPROT:Q9ULL8 ; xref: ENSEMBL:ENSG00000158352] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 Intellectual deficit, X-linked, Vitale type Orphanet ID- 11679 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85289 OMIM:300360 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive; Intellectual deficit, X-linked, Wilson type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11680 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290 OMIM:309545 Intellectual deficit, X-linked, Wittwer type Wittwer syndrome Wittwer syndrome OMIM:300421 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85291 Orphanet ID- 11681 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Wittwer syndrome X-linked spinocerebellar ataxia type 4 X-linked ataxia-dementia syndrome Orphanet ID- 11682 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:301840 X-linked ataxia-dementia syndrome ICD10:G11.1 EXACT X-linked ataxia-dementia syndrome Cabezas syndrome X-linked intellectual deficit, Cabezas type OMIM:300354 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293 X-linked intellectual deficit, Cabezas type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:120908 ; Name:Cullin 4B ; Symbol:CUL4B ; xref: GENATLAS:CUL4B ; xref: HGNC:2555 ; xref: OMIM:300304 ; xref: UNIPROTKB/SWISSPROT:Q13620 ; xref: ENSEMBL:ENSG00000158290] Orphanet ID- 11683 EXACT X-linked intellectual deficit, Cabezas type X-linked epilepsy - learning disabilities - behavior disorders Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300491 Orphanet ID- 11684 Gene [OrphaNum:119906 ; Name:Synapsin I ; Symbol:SYN1 ; xref: GENATLAS:SYN1 ; xref: HGNC:11494 ; xref: OMIM:313440 ; xref: UNIPROTKB/SWISSPROT:P17600 ; xref: REACTOME:P17600 ; xref: ENSEMBL:ENSG00000008056] Intellectual deficit, X-linked - choreoathetosis - abnormal behavior Syndromic X-linked intellectual deficit type 10 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 Orphanet ID- 11685 Syndromic X-linked intellectual deficit type 10 OMIM:300220 Gene [OrphaNum:122504 ; Name:Hydroxysteroid (17-beta) dehydrogenase 10 ; Symbol:HSD17B10 ; xref: GENATLAS:HSD17B10 ; xref: HGNC:4800 ; xref: OMIM:300256 ; xref: UNIPROTKB/SWISSPROT:Q99714 ; xref: REACTOME:Q99714 ; xref: ENSEMBL:ENSG00000072506] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Syndromic X-linked intellectual deficit type 10 X-linked spinocerebellar ataxia type 3 X-linked ataxia-deafness syndrome X-linked ataxia-deafness syndrome ICD10:G11.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 OMIM:301790 Orphanet ID- 11686 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT X-linked ataxia-deafness syndrome Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317 Orphanet ID- 11687 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked recessive; Intellectual deficit, X-linked - precocious puberty - obesity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85318 Orphanet ID- 11688 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism Orphanet ID- 11689 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Intellectual deficit, X-linked - macrocephaly - macro-orchidism Johnson syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320 Orphanet ID- 11690 Johnson syndrome EXACT Johnson syndrome Deafness - intellectual deficit, Martin-Probst type Martin-Probst syndrome X-linked deafness - intellectual deficit syndrome OMIM:300519 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 Gene [OrphaNum:303717 ; Name:RAB40A, member RAS oncogene family-like ; Symbol:RAB40AL ; xref: HGNC:25410 ; xref: OMIM:300405 ; xref: GENATLAS:RAB40AL ; xref: UNIPROTKB/SWISSPROT:P0C0E4] Martin-Probst syndrome Orphanet ID- 11691 X-linked deafness - intellectual deficit syndrome EXACT Martin-Probst syndrome EXACT X-linked deafness - intellectual deficit syndrome Intellectual deficit, X-linked, Pai type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322 Orphanet ID- 11692 Intellectual deficit, X-linked, Seemanova type Orphanet ID- 11693 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323 Intellectual deficit, X-linked, Shrimpton type MRXS9 OMIM:300709 Orphanet ID- 11694 MRXS9 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324 EXACT MRXS9 Intellectual deficit, X-linked, Stevenson type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 Orphanet ID- 11695 X-linked intellectual deficit, Stoll type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11696 Intellectual deficit, X-linked - acromegaly - hyperactivity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327 Orphanet ID- 11697 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Intellectual deficit, X-linked, Turner type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85328 OMIM:300706 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant; Gene [OrphaNum:209314 ; Name:HECT, UBA and WWE domain containing 1 ; Symbol:HUWE1 ; xref: REACTOME:Q7Z6Z7 ; xref: ENSEMBL:ENSG00000086758 ; xref: GENATLAS:HUWE1 ; xref: HGNC:30892 ; xref: OMIM:300697 ; xref: UNIPROTKB/SWISSPROT:Q7Z6Z7] Orphanet ID- 11698 Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior Orphanet ID- 11699 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 Lafora disease Progressive myoclonic epilepsy type 2 ICD10:G40.3 Gene [OrphaNum:121577 ; Name:Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) ; Symbol:EPM2A ; xref: GENATLAS:EPM2A ; xref: HGNC:3413 ; xref: OMIM:607566 ; xref: UNIPROTKB/SWISSPROT:O95278 ; xref: ENSEMBL:ENSG00000112425] OMIM:254780 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 Gene [OrphaNum:123779 ; Name:NHL repeat containing 1 ; Symbol:NHLRC1 ; xref: GENATLAS:NHLRC1 ; xref: HGNC:21576 ; xref: OMIM:608072 ; xref: UNIPROTKB/SWISSPROT:Q6VVB1 ; xref: ENSEMBL:ENSG00000187566] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Progressive myoclonic epilepsy type 2 Orphanet ID- 117 EXACT Progressive myoclonic epilepsy type 2 Intellectual deficit, X-linked - corpus callosum agenesis - spastic quadriparesis Orphanet ID- 11700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85330 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85331 Orphanet ID- 11701 Intellectual deficit, X-linked - retinitis pigmentosa Aldred syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 OMIM:300578 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Aldred syndrome Orphanet ID- 11702 EXACT Aldred syndrome X-linked neurodegenerative syndrome, Bertini type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334 Orphanet ID- 11704 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Fried syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; OMIM:300630 Orphanet ID- 11705 Gene [OrphaNum:137988 ; Name:adaptor-related protein complex 1, sigma 2 subunit ; Symbol:AP1S2 ; xref: GENATLAS:AP1S2 ; xref: HGNC:560 ; xref: OMIM:300629 ; xref: UNIPROTKB/SWISSPROT:P56377 ; xref: REACTOME:P56377 ; xref: ENSEMBL:ENSG00000182287] X-linked neurodegenerative syndrome, Hamel type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11706 Intellectual deficit, X-linked, Zorick type Orphanet ID- 11707 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85337 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; X-linked intellectual deficit - ataxia - apraxia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338 Orphanet ID- 11708 Short stature - pituitary and cerebellar defects - small sella turcica Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442 Gene [OrphaNum:138383 ; Name:LIM homeobox 4 ; Symbol:LHX4 ; xref: HGNC:21734 ; xref: OMIM:602146 ; xref: UNIPROTKB/SWISSPROT:Q969G2 ; xref: GENATLAS:LHX4 ; xref: ENSEMBL:ENSG00000121454] Orphanet ID- 11716 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:262700 Primary amyloidosis AL Amyloidosis Immunoglobulinic amyloidosis Primary systemic amyloidosis ICD10:E85.4 OMIM:254500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85443 AL Amyloidosis Immunoglobulinic amyloidosis Orphanet ID- 11717 Gene [OrphaNum:122589 ; Name:Immunoglobulin heavy constant gamma 1 (G1m marker) ; Symbol:IGHG1 ; xref: GENATLAS:IGHG1 ; xref: HGNC:5525 ; xref: OMIM:147100 ; xref: UNIPROTKB/SWISSPROT:P01857 ; xref: REACTOME:P01857 ; xref: ENSEMBL:ENSG00000211896] Primary systemic amyloidosis Gene [OrphaNum:121380 ; Name:Apolipoprotein A-I ; Symbol:APOA1 ; xref: GENATLAS:APOA1 ; xref: HGNC:600 ; xref: OMIM:107680 ; xref: UNIPROTKB/SWISSPROT:P02647 ; xref: ENSEMBL:ENSG00000118137 ; xref: REACTOME:P02647] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT AL Amyloidosis EXACT Primary systemic amyloidosis EXACT Immunoglobulinic amyloidosis Familial amyloid polyneuropathy TTR amyloid neuropathy Transthyretin amyloid neuropathy Transthyretin amyloid polyneuropathy Transthyretin amyloid polyneuropathy prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Orphanet ID- 11720 Transthyretin amyloid neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 TTR amyloid neuropathy Gene [OrphaNum:120337 ; Name:Transthyretin (prealbumin, amyloidosis type I) ; Symbol:TTR ; xref: HGNC:12405 ; xref: OMIM:176300 ; xref: UNIPROTKB/SWISSPROT:P02766 ; xref: GENATLAS:TTR ; xref: REACTOME:P02766 ; xref: ENSEMBL:ENSG00000118271] ICD10:E85.1 OMIM:105210 EXACT TTR amyloid neuropathy EXACT Transthyretin amyloid neuropathy EXACT Transthyretin amyloid polyneuropathy Familial amyloidosis, Finnish type Familial amyloid polyneuropathy type 4 Gelsolin amyloidosis Hereditary amyloidosis, Finnish type Hereditary amyloidosis, Finnish type Gene [OrphaNum:122296 ; Name:Gelsolin (amyloidosis, Finnish type) ; Symbol:GSN ; xref: GENATLAS:GSN ; xref: HGNC:4620 ; xref: OMIM:137350 ; xref: UNIPROTKB/SWISSPROT:P06396 ; xref: ENSEMBL:ENSG00000148180 ; xref: REACTOME:P06396] Gelsolin amyloidosis OMIM:105120 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448 Orphanet ID- 11721 Familial amyloid polyneuropathy type 4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Gelsolin amyloidosis EXACT Familial amyloid polyneuropathy type 4 EXACT Hereditary amyloidosis, Finnish type Familial renal amyloidosis Amyloidosis, Ostertag type Familial amyloid nephropathy Hereditary amyloid nephropathy Hereditary renal amyloidosis Hereditary renal amyloidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450 OMIM:105200 Orphanet ID- 11722 Amyloidosis, Ostertag type prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Familial amyloid nephropathy Hereditary amyloid nephropathy EXACT Familial amyloid nephropathy EXACT Hereditary renal amyloidosis EXACT Hereditary amyloid nephropathy EXACT Amyloidosis, Ostertag type Transthyretin-related familial amyloid cardiomyopathy ATTR cardiomyopathy TTR-related amyloid cardiomyopathy TTR-related cardiac amyloidosis Transthyretin amyloid cardiopathy Transthyretin amyloid cardiopathy Orphanet ID- 11723 TTR-related cardiac amyloidosis OMIM:105210 Gene [OrphaNum:120337 ; Name:Transthyretin (prealbumin, amyloidosis type I) ; Symbol:TTR ; xref: HGNC:12405 ; xref: OMIM:176300 ; xref: UNIPROTKB/SWISSPROT:P02766 ; xref: GENATLAS:TTR ; xref: REACTOME:P02766 ; xref: ENSEMBL:ENSG00000118271] ATTR cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; TTR-related amyloid cardiomyopathy EXACT ATTR cardiomyopathy EXACT Transthyretin amyloid cardiopathy EXACT TTR-related amyloid cardiomyopathy EXACT TTR-related cardiac amyloidosis X-linked reticulate pigmentary disorder with systemic manifestations Familial cutaneous amyloidosis PDR Partington disease X-linked cutaneous amyloidosis XLPDR prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 Orphanet ID- 11724 OMIM:301220 X-linked cutaneous amyloidosis Familial cutaneous amyloidosis PDR Partington disease XLPDR EXACT Familial cutaneous amyloidosis EXACT XLPDR EXACT X-linked cutaneous amyloidosis EXACT Partington disease EXACT PDR Hereditary cerebral hemorrhage with amyloidosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11725 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458 CDG syndrome type Ij CDG1J Carbohydrate deficient glycoprotein syndrome type Ij Congenital disorder of glycosylation type 2j Congenital disorder of glycosylation type Ij Congenital disorder of glycosylation type Ij Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 ICD10:E77.8 Gene [OrphaNum:121158 ; Name:Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ; Symbol:DPAGT1 ; xref: GENATLAS:DPAGT1 ; xref: HGNC:2995 ; xref: OMIM:191350 ; xref: UNIPROTKB/SWISSPROT:Q9H3H5 ; xref: ENSEMBL:ENSG00000172269 ; xref: REACTOME:Q9H3H5] Orphanet ID- 11726 CDG1J Carbohydrate deficient glycoprotein syndrome type Ij prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital disorder of glycosylation type 2j OMIM:608093 EXACT CDG1J EXACT Carbohydrate deficient glycoprotein syndrome type Ij EXACT Congenital disorder of glycosylation type 2j EXACT Congenital disorder of glycosylation type Ij X-linked severe congenital neutropenia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 11727 Gene [OrphaNum:120490 ; Name:Wiskott-Aldrich syndrome (eczema-thrombocytopenia) ; Symbol:WAS ; xref: GENATLAS:WAS ; xref: HGNC:12731 ; xref: OMIM:300392 ; xref: UNIPROTKB/SWISSPROT:P42768 ; xref: ENSEMBL:ENSG00000015285 ; xref: REACTOME:P42768] OMIM:300299 ICD10:D70 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86788 Patella aplasia/hypoplasia PTLAH OMIM:168860 PTLAH ICD10:Q74.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789 Orphanet ID- 11728 EXACT PTLAH Autosomal recessive limb-girdle muscular dystrophy type 2K LGMD2K Limb-girdle muscular dystrophy - intellectual deficit prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G71.0 OMIM:609308 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 LGMD2K Gene [OrphaNum:117939 ; Name:Protein-O-mannosyltransferase 1 ; Symbol:POMT1 ; xref: GENATLAS:POMT1 ; xref: HGNC:9202 ; xref: OMIM:607423 ; xref: UNIPROTKB/SWISSPROT:Q9Y6A1 ; xref: ENSEMBL:ENSG00000130714] Limb-girdle muscular dystrophy - intellectual deficit Orphanet ID- 11732 EXACT LGMD2K EXACT Limb-girdle muscular dystrophy - intellectual deficit Helicoid peripapillary chorioretinal degeneration Atrophia areata SCRA Sveinsson chorioretinal atrophy Sveinsson chorioretinal atrophy OMIM:108985 Atrophia areata Orphanet ID- 11733 Gene [OrphaNum:120010 ; Name:TEA domain family member 1 (SV40 transcriptional enhancer factor) ; Symbol:TEAD1 ; xref: GENATLAS:TEAD1 ; xref: HGNC:11714 ; xref: OMIM:189967 ; xref: UNIPROTKB/SWISSPROT:P28347 ; xref: ENSEMBL:ENSG00000187079 ; xref: REACTOME:P28347] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813 ICD10:H35.4 SCRA prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; EXACT SCRA EXACT Atrophia areata EXACT Sveinsson chorioretinal atrophy Benign adult familial myoclonic epilepsy ADCME Autosomal dominant cortical myoclonus and epilepsy BAFME FAME FCMTE Familial adult myoclonic epilepsy Familial cortical myoclonic tremor and epilepsy Autosomal dominant cortical myoclonus and epilepsy Familial cortical myoclonic tremor and epilepsy FAME Familial adult myoclonic epilepsy BAFME prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; OMIM:613608 Orphanet ID- 11734 ADCME OMIM:607876 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 OMIM:601068 FCMTE EXACT FCMTE EXACT FAME EXACT Autosomal dominant cortical myoclonus and epilepsy EXACT BAFME EXACT Familial adult myoclonic epilepsy EXACT Familial cortical myoclonic tremor and epilepsy EXACT ADCME Aplasia of lacrimal and salivary glands ALSG Congenital absence of lacrimal puncta and salivary glands Gene [OrphaNum:121794 ; Name:Fibroblast growth factor 10 ; Symbol:FGF10 ; xref: GENATLAS:FGF10 ; xref: HGNC:3666 ; xref: OMIM:602115 ; xref: UNIPROTKB/SWISSPROT:O15520 ; xref: REACTOME:O15520 ; xref: ENSEMBL:ENSG00000070193] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11735 ALSG ICD10:Q38.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815 Congenital absence of lacrimal puncta and salivary glands ICD10:Q10.4 OMIM:180920 EXACT ALSG EXACT Congenital absence of lacrimal puncta and salivary glands Congenital analbuminemia ICD10:R77.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816 OMIM:103600 Orphanet ID- 11736 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:119576 ; Name:Albumin ; Symbol:ALB ; xref: GENATLAS:ALB ; xref: HGNC:399 ; xref: OMIM:103600 ; xref: UNIPROTKB/SWISSPROT:P02768 ; xref: REACTOME:P02768 ; xref: ENSEMBL:ENSG00000163631] Hemolytic anemia due to adenylate kinase deficiency Orphanet ID- 11737 OMIM:612631 Gene [OrphaNum:119567 ; Name:Adenylate kinase 1 ; Symbol:AK1 ; xref: GENATLAS:AK1 ; xref: HGNC:361 ; xref: OMIM:103000 ; xref: UNIPROTKB/SWISSPROT:P00568 ; xref: REACTOME:P00568 ; xref: ENSEMBL:ENSG00000106992] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:D55.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817 Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis AMME complex AMME syndrome ATS-MR AMME complex Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 ATS-MR Gene [OrphaNum:119662 ; Name:Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 ; Symbol:AMMECR1 ; xref: GENATLAS:AMMECR1 ; xref: HGNC:467 ; xref: OMIM:300195 ; xref: UNIPROTKB/SWISSPROT:Q9Y4X0 ; xref: ENSEMBL:ENSG00000101935] OMIM:300194 AMME syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:Q87.8 Gene [OrphaNum:117743 ; Name:Acyl-CoA synthetase long-chain family member 4 ; Symbol:ACSL4 ; xref: GENATLAS:ACSL4 ; xref: HGNC:3571 ; xref: OMIM:300157 ; xref: UNIPROTKB/SWISSPROT:O60488 ; xref: ENSEMBL:ENSG00000068366 ; xref: REACTOME:O60488] Orphanet ID- 11738 Gene [OrphaNum:122768 ; Name:KCNE1-like ; Symbol:KCNE1L ; xref: GENATLAS:KCNE1L ; xref: HGNC:6241 ; xref: OMIM:300328 ; xref: UNIPROTKB/SWISSPROT:Q9UJ90 ; xref: ENSEMBL:ENSG00000176076] EXACT ATS-MR EXACT AMME syndrome EXACT AMME complex Atrichia with papular lesions Papular atrichia OMIM:209500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819 Orphanet ID- 11739 Papular atrichia ICD10:L72.8 Gene [OrphaNum:122495 ; Name:Hairless homolog (mouse) ; Symbol:HR ; xref: GENATLAS:HR ; xref: HGNC:5172 ; xref: OMIM:602302 ; xref: UNIPROTKB/SWISSPROT:O43593 ; xref: ENSEMBL:ENSG00000168453] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Papular atrichia Trisomy 4p Duplication 4p Short arm of chromosome 4 trisomy ICD10:Q92.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738 Short arm of chromosome 4 trisomy Orphanet ID- 1174 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Duplication 4p EXACT Short arm of chromosome 4 trisomy EXACT Duplication 4p Familial avascular necrosis of femoral head Familial osteonecrosis of the femoral head prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] OMIM:608805 Familial osteonecrosis of the femoral head ICD10:M87.8 Orphanet ID- 11740 EXACT Familial osteonecrosis of the femoral head Lissencephaly type 3 - familial fetal akinesia sequence Orphanet ID- 11741 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 ICD10:Q04.3 Lissencephaly type 3 - metacarpal bone dysplasia OMIM:601160 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q04.3 Orphanet ID- 11742 Lissencephaly with cerebellar hypoplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 Orphanet ID- 11743 Trisomy 5p Duplication 5p Short arm of chromosome 5 trisomy Orphanet ID- 1178 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 Short arm of chromosome 5 trisomy Duplication 5p prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q92.3 EXACT Duplication 5p EXACT Short arm of chromosome 5 trisomy Hypothalamic hamartomas with gelastic seizures ICD10:G40.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906 Orphanet ID- 11782 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hemiconvulsion-Hemiplegia-Epilepsy syndrome HHE syndrome Orphanet ID- 11783 ICD10:G40.4 HHE syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 EXACT HHE syndrome Myoclonic epilepsy of infancy Benign myoclonic epilepsy of infancy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909 Gene [OrphaNum:239943 ; Name:TBC1 domain family, member 24 ; Symbol:TBC1D24 ; xref: GENATLAS:TBC1D24 ; xref: HGNC:29203 ; xref: OMIM:613577 ; xref: UNIPROTKB/SWISSPROT:Q9ULP9 ; xref: ENSEMBL:ENSG00000162065] Benign myoclonic epilepsy of infancy prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11784 ICD10:G40.3 OMIM:605021 EXACT Benign myoclonic epilepsy of infancy Epilepsy with myoclonic absences Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 Orphanet ID- 11785 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G40.4 Myoclonic epilepsy in non-progressive encephalopathies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G40.4 Orphanet ID- 11786 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913 Lymphedema - cerebral arteriovenous anomaly ICD10:Q28.2 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q82.0 Orphanet ID- 11787 OMIM:152900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914 Lymphedema - atrial septal defects - facial changes Irons-Bianchi syndrome ICD10:Q82.0 ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Irons-Bianchi syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 OMIM:601927 Orphanet ID- 11788 ICD10:Q21.1 EXACT Irons-Bianchi syndrome Lymphedema - cleft palate prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11790 ICD10:Q35.9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86917 ICD10:Q82.0 Diffuse palmoplantar keratoderma - acrocyanosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918 Orphanet ID- 11791 ICD10:Q82.8 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Keratosis palmaris et plantaris - clinodactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q82.8 Orphanet ID- 11792 OMIM:148520 Dermatopathia pigmentosa reticularis Orphanet ID- 11793 Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847] OMIM:125595 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 ICD10:Q82.4 Rolled and spiral hairs - palmoplantar keratoderma prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q82.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86921 Orphanet ID- 11794 Palmoplantar keratoderma - amyotrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86922 Orphanet ID- 11795 ICD10:G12.8 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Keratoderma palmoplantar, Norrbotten recessive type Keratoderma palmoplantar, Norrbotten recessive type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86923 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:244850 Orphanet ID- 11796 ICD10:Q82.8 EXACT Keratoderma palmoplantar, Norrbotten recessive type Huntington disease Huntington chorea OMIM:143100 ICD10:G10 Orphanet ID- 118 Huntington chorea prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 Gene [OrphaNum:122387 ; Name:Huntingtin (Huntington disease) ; Symbol:HTT ; xref: GENATLAS:HTT ; xref: HGNC:4851 ; xref: OMIM:613004 ; xref: UNIPROTKB/SWISSPROT:P42858 ; xref: ENSEMBL:ENSG00000197386] EXACT Huntington chorea Mal de Meleda Keratosis palmoplantaris transgrediens of Siemens Meleda disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Keratosis palmoplantaris transgrediens of Siemens Orphanet ID- 11800 OMIM:248300 ICD10:Q82.8 Gene [OrphaNum:119720 ; Name:Secreted LY6/PLAUR domain containing 1 ; Symbol:SLURP1 ; xref: GENATLAS:SLURP1 ; xref: HGNC:18746 ; xref: OMIM:606119 ; xref: UNIPROTKB/SWISSPROT:P55000 ; xref: ENSEMBL:ENSG00000126233] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503 Meleda disease EXACT Keratosis palmoplantaris transgrediens of Siemens EXACT Meleda disease Sialidosis type 2 Infantile dysmorphic sialidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 Infantile dysmorphic sialidosis OMIM:256550 ICD10:E77.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 11801 OMIM:256150 EXACT Infantile dysmorphic sialidosis Nonsyndromic genetic deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11802 Autosomal recessive nonsyndromic intellectual deficit NS-ARID OMIM:608443 Gene [OrphaNum:120811 ; Name:Cereblon ; Symbol:CRBN ; xref: GENATLAS:CRBN ; xref: HGNC:30185 ; xref: OMIM:609262 ; xref: UNIPROTKB/SWISSPROT:Q96SW2 ; xref: ENSEMBL:ENSG00000113851] OMIM:614339 Gene [OrphaNum:159945 ; Name:Tumor suppressor candidate 3 ; Symbol:TUSC3 ; xref: GENATLAS:TUSC3 ; xref: HGNC:30242 ; xref: OMIM:601385 ; xref: UNIPROTKB/SWISSPROT:Q13454 ; xref: ENSEMBL:ENSG00000104723 ; xref: REACTOME:Q13454] Gene [OrphaNum:205590 ; Name:Glutamate receptor, ionotropic, kainate 2 ; Symbol:GRIK2 ; xref: GENATLAS:GRIK2 ; xref: ENSEMBL:ENSG00000164418 ; xref: IUPHAR:451 ; xref: REACTOME:Q13002 ; xref: HGNC:4580 ; xref: OMIM:138244 ; xref: UNIPROTKB/SWISSPROT:Q13002] OMIM:614020 OMIM:614333 OMIM:614499 OMIM:611107 NS-ARID OMIM:614202 OMIM:607417 OMIM:614207 Gene [OrphaNum:279764 ; Name:Mediator complex subunit 23 ; Symbol:MED23 ; xref: ENSEMBL:ENSG00000112282 ; xref: REACTOME:Q9ULK4 ; xref: HGNC:2372 ; xref: OMIM:605042 ; xref: UNIPROTKB/SWISSPROT:Q9ULK4 ; xref: GENATLAS:MED23] OMIM:614249 OMIM:611092 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 OMIM:614347 OMIM:611093 OMIM:611090 Gene [OrphaNum:279756 ; Name:Mannosidase, alpha, class 1B, member 1 ; Symbol:MAN1B1 ; xref: REACTOME:Q9UKM7 ; xref: ENSEMBL:ENSG00000177239 ; xref: HGNC:6823 ; xref: OMIM:604346 ; xref: UNIPROTKB/SWISSPROT:Q9UKM7 ; xref: GENATLAS:MAN1B1] OMIM:611091 OMIM:614344 OMIM:611096 OMIM:611097 OMIM:614343 OMIM:614346 OMIM:611094 OMIM:614345 Gene [OrphaNum:285223 ; Name:ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 ; Symbol:ST3GAL3 ; xref: ENSEMBL:ENSG00000126091 ; xref: REACTOME:Q11203 ; xref: GENATLAS:ST3GAL3 ; xref: HGNC:10866 ; xref: OMIM:606494 ; xref: UNIPROTKB/SWISSPROT:Q11203] OMIM:611095 OMIM:614340 OMIM:614208 OMIM:614342 OMIM:614341 Gene [OrphaNum:285400 ; Name:Zinc finger protein 26 ; Symbol:ZNF26 ; xref: GENATLAS:ZNF26 ; xref: OMIM:194537 ; xref: HGNC:13053 ; xref: UNIPROTKB/SWISSPROT:P17031 ; xref: ENSEMBL:ENSG00000198393 ; xref: REACTOME:P17031] Gene [OrphaNum:119202 ; Name:Coiled-coil and C2 domain containing 1A ; Symbol:CC2D1A ; xref: GENATLAS:CC2D1A ; xref: HGNC:30237 ; xref: OMIM:610055 ; xref: UNIPROTKB/SWISSPROT:Q6P1N0 ; xref: ENSEMBL:ENSG00000132024] Gene [OrphaNum:218049 ; Name:Trafficking protein particle complex 9 ; Symbol:TRAPPC9 ; xref: ENSEMBL:ENSG00000167632 ; xref: GENATLAS:TRAPPC9 ; xref: HGNC:30832 ; xref: OMIM:611966 ; xref: UNIPROTKB/SWISSPROT:Q96Q05] OMIM:249500 Gene [OrphaNum:118083 ; Name:Protease, serine, 12 (neurotrypsin, motopsin) ; Symbol:PRSS12 ; xref: GENATLAS:PRSS12 ; xref: HGNC:9477 ; xref: OMIM:606709 ; xref: UNIPROTKB/SWISSPROT:P56730 ; xref: ENSEMBL:ENSG00000164099] Gene [OrphaNum:270389 ; Name:KIAA1033 ; Symbol:KIAA1033 ; xref: ENSEMBL:ENSG00000136051 ; xref: UNIPROTKB/SWISSPROT:Q2M389 ; xref: HGNC:29174 ; xref: GENATLAS:KIAA1033] OMIM:614329 Orphanet ID- 11804 Gene [OrphaNum:285406 ; Name:Zinc finger CCCH-type containing 14 ; Symbol:ZC3H14 ; xref: UNIPROTKB/SWISSPROT:Q6PJT7 ; xref: GENATLAS:ZC3H14 ; xref: HGNC:20509 ; xref: OMIM:613279 ; xref: ENSEMBL:ENSG00000100722] Gene [OrphaNum:265497 ; Name:trans-2,3-enoyl-CoA reductase ; Symbol:TECR ; xref: OMIM:610057 ; xref: ENSEMBL:ENSG00000099797 ; xref: REACTOME:Q9NZ01 ; xref: HGNC:4551 ; xref: GENATLAS:GPSN2 ; xref: UNIPROTKB/SWISSPROT:Q9NZ01] Gene [OrphaNum:302903 ; Name:NOP2/Sun RNA methyltransferase family, member 2 ; Symbol:NSUN2 ; xref: HGNC:25994 ; xref: OMIM:610916 ; xref: GENATLAS:NSUN2 ; xref: UNIPROTKB/SWISSPROT:Q08J23] Gene [OrphaNum:303823 ; Name:CASP2 and RIPK1 domain containing adaptor with death domain ; Symbol:CRADD ; xref: HGNC:2340 ; xref: OMIM:603454 ; xref: GENATLAS:CRADD ; xref: UNIPROTKB/SWISSPROT:P78560] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:613192 EXACT NS-ARID Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency Gene [OrphaNum:119546 ; Name:S-adenosylhomocysteine hydrolase ; Symbol:AHCY ; xref: GENATLAS:AHCY ; xref: HGNC:343 ; xref: OMIM:180960 ; xref: UNIPROTKB/SWISSPROT:P23526 ; xref: ENSEMBL:ENSG00000101444 ; xref: REACTOME:P23526] ICD10:E72.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 OMIM:613752 Orphanet ID- 11805 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency EXACT Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency Familial acute necrotizing encephalopathy ADANE Recurrent acute necrotizing encephalopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 Recurrent acute necrotizing encephalopathy Gene [OrphaNum:173526 ; Name:RAN binding protein 2 ; Symbol:RANBP2 ; xref: GENATLAS:RANBP2 ; xref: HGNC:9848 ; xref: OMIM:601181 ; xref: UNIPROTKB/SWISSPROT:P49792 ; xref: ENSEMBL:ENSG00000153201 ; xref: REACTOME:P49792] OMIM:608033 Orphanet ID- 11806 ADANE prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT ADANE EXACT Recurrent acute necrotizing encephalopathy Ichthyosis prematurity syndrome Congenital ichthyosis type 4 IPS prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; IPS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 Gene [OrphaNum:208329 ; Name:Solute carrier family 27 (fatty acid transporter), member 4 ; Symbol:SLC27A4 ; xref: ENSEMBL:ENSG00000167114 ; xref: REACTOME:Q6P1M0 ; xref: GENATLAS:SLC27A4 ; xref: HGNC:10998 ; xref: OMIM:604194 ; xref: UNIPROTKB/SWISSPROT:Q6P1M0] Orphanet ID- 11808 OMIM:608649 Congenital ichthyosis type 4 EXACT IPS EXACT Congenital ichthyosis type 4 Posterior column ataxia - retinitis pigmentosa Autosomal recessive posterior column ataxia and retinitis pigmentosa PCARP OMIM:609033 Orphanet ID- 11809 ICD10:G11.1 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:246647 ; Name:Feline leukemia virus subgroup C cellular receptor 1 ; Symbol:FLVCR1 ; xref: ENSEMBL:ENSG00000162769 ; xref: REACTOME:Q9Y5Y0 ; xref: GENATLAS:FLVCR1 ; xref: HGNC:24682 ; xref: OMIM:609144 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y0] Autosomal recessive posterior column ataxia and retinitis pigmentosa PCARP ICD10:H35.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 EXACT Autosomal recessive posterior column ataxia and retinitis pigmentosa EXACT PCARP Distal trisomy 6p Distal duplication 6p Telomeric duplication 6p Trisomy 6pter Orphanet ID- 1181 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Distal duplication 6p Trisomy 6pter ICD10:Q92.3 Telomeric duplication 6p Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745 EXACT Distal duplication 6p EXACT Trisomy 6pter EXACT Telomeric duplication 6p Tritanopia Blue colour blindness Congenital tritanopia Tritan colour blindness ICD10:H53.5 Orphanet ID- 11810 Tritan colour blindness Blue colour blindness OMIM:190900 Congenital tritanopia Gene [OrphaNum:124018 ; Name:Opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) ; Symbol:OPN1SW ; xref: GENATLAS:OPN1SW ; xref: HGNC:1012 ; xref: UNIPROTKB/SWISSPROT:P03999 ; xref: OMIM:613522 ; xref: ENSEMBL:ENSG00000128617 ; xref: REACTOME:P03999] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Tritan colour blindness EXACT Congenital tritanopia EXACT Blue colour blindness Terminal osseous dysplasia - pigmentary defects Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 OMIM:300244 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked dominant; Orphanet ID- 11811 Familial ocular anterior segment mesenchymal dysgenesis OMIM:107250 Orphanet ID- 11812 Gene [OrphaNum:121900 ; Name:Forkhead box E3 ; Symbol:FOXE3 ; xref: GENATLAS:FOXE3 ; xref: HGNC:3808 ; xref: OMIM:601094 ; xref: UNIPROTKB/SWISSPROT:Q13461 ; xref: ENSEMBL:ENSG00000186790] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:117844 ; Name:Paired-like homeodomain 3 ; Symbol:PITX3 ; xref: OMIM:602669 ; xref: UNIPROTKB/SWISSPROT:O75364 ; xref: GENATLAS:PITX3 ; xref: HGNC:9006 ; xref: ENSEMBL:ENSG00000107859] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 Myopathy due to calsequestrin and SERCA1 protein overload Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 Orphanet ID- 11814 ICD10:G71.8 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Unknown; Aortic dilatation - joint hypermobility - arterial tortuosity Orphanet ID- 11815 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88636 Gene [OrphaNum:120069 ; Name:Transforming growth factor, beta receptor II (70/80kDa) ; Symbol:TGFBR2 ; xref: GENATLAS:TGFBR2 ; xref: HGNC:11773 ; xref: OMIM:190182 ; xref: UNIPROTKB/SWISSPROT:P37173 ; xref: ENSEMBL:ENSG00000163513 ; xref: REACTOME:P37173] Hypomyelination - hypogonadotropic hypogonadism - hypodontia 4H syndrome ICD10:E75.2 ICD10:K00.0 ICD10:E23.0 OMIM:614381 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 Orphanet ID- 11816 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; 4H syndrome OMIM:607694 Gene [OrphaNum:285118 ; Name:Polymerase (RNA) III (DNA directed) Polypeptide B ; Symbol:POLR3B ; xref: UNIPROTKB/SWISSPROT:Q9NW08 ; xref: GENATLAS:POLR3B ; xref: OMIM:614366 ; xref: HGNC:30348 ; xref: REACTOME:Q9NW08 ; xref: ENSEMBL:ENSG00000013503] Gene [OrphaNum:285106 ; Name:Polymerase (RNA) III (DNA directed) Polypeptide A, 155kDa ; Symbol:POLR3A ; xref: UNIPROTKB/SWISSPROT:O14802 ; xref: HGNC:30074 ; xref: OMIM:614258 ; xref: GENATLAS:POLR3A ; xref: REACTOME:O14802 ; xref: ENSEMBL:ENSG00000148606] EXACT 4H syndrome Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Methacrylic aciduria Gene [OrphaNum:159703 ; Name:3-hydroxyisobutyryl-Coenzyme A hydrolase gene ; Symbol:HIBCH ; xref: GENATLAS:HIBCH ; xref: HGNC:4908 ; xref: OMIM:610690 ; xref: UNIPROTKB/SWISSPROT:Q6NVY1 ; xref: ENSEMBL:ENSG00000198130 ; xref: REACTOME:Q6NVY1] Orphanet ID- 11817 ICD10:E71.1 Methacrylic aciduria OMIM:250620 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 EXACT Methacrylic aciduria Channelopathy-associated congenital insensitivity to pain Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 OMIM:243000 OMIM:147530 Orphanet ID- 11818 Gene [OrphaNum:118525 ; Name:Sodium channel, voltage-gated, type IX, alpha subunit ; Symbol:SCN9A ; xref: GENATLAS:SCN9A ; xref: HGNC:10597 ; xref: OMIM:603415 ; xref: UNIPROTKB/SWISSPROT:Q15858 ; xref: ENSEMBL:ENSG00000169432 ; xref: IUPHAR:584 ; xref: REACTOME:Q15858] OMIM:147430 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:G60.8 Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 11819 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643 Autosomal recessive ataxia, Beauce type ARCA1 Autosomal recessive cerebellar ataxia type 1 SCAR8 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:159219 ; Name:Spectrin repeat containing, nuclear envelope 1 ; Symbol:SYNE1 ; xref: ENSEMBL:ENSG00000131018 ; xref: REACTOME:Q8NF91 ; xref: GENATLAS:SYNE1 ; xref: HGNC:17089 ; xref: OMIM:608441 ; xref: UNIPROTKB/SWISSPROT:Q8NF91] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 SCAR8 Autosomal recessive cerebellar ataxia type 1 OMIM:610743 ICD10:G11.2 ARCA1 Orphanet ID- 11820 EXACT ARCA1 EXACT Autosomal recessive cerebellar ataxia type 1 EXACT SCAR8 Autosomal dominant progressive nephropathy with hypertension Orphanet ID- 11821 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:161900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659 Pseudohyperaldosteronism type 2 Early-onset hypertension with exacerbation in pregnancy Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Gene [OrphaNum:123920 ; Name:Nuclear receptor subfamily 3, group C, member 2 ; Symbol:NR3C2 ; xref: GENATLAS:NR3C2 ; xref: HGNC:7979 ; xref: OMIM:600983 ; xref: UNIPROTKB/SWISSPROT:P08235 ; xref: IUPHAR:626 ; xref: ENSEMBL:ENSG00000151623 ; xref: REACTOME:P08235] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Orphanet ID- 11822 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660 OMIM:605115 Early-onset hypertension with exacerbation in pregnancy EXACT Hypertension due to gain-of-function mutations in the mineralocorticoid receptor EXACT Early-onset hypertension with exacerbation in pregnancy Amelogenesis imperfecta prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant; Inheritance- X-linked recessive; Orphanet ID- 11823 ICD10:K00.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661 X-linked Alport syndrome Orphanet ID- 11849 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120722 ; Name:Collagen, type IV, alpha 5 (Alport syndrome) ; Symbol:COL4A5 ; xref: GENATLAS:COL4A5 ; xref: HGNC:2207 ; xref: OMIM:303630 ; xref: UNIPROTKB/SWISSPROT:P29400 ; xref: ENSEMBL:ENSG00000188153 ; xref: REACTOME:P29400] OMIM:301050 Autosomal dominant Alport syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 OMIM:104200 Gene [OrphaNum:120718 ; Name:Collagen, type IV, alpha 3 (Goodpasture antigen) ; Symbol:COL4A3 ; xref: GENATLAS:COL4A3 ; xref: HGNC:2204 ; xref: OMIM:120070 ; xref: UNIPROTKB/SWISSPROT:Q01955 ; xref: REACTOME:Q01955 ; xref: ENSEMBL:ENSG00000169031] Orphanet ID- 11850 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive Alport syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120718 ; Name:Collagen, type IV, alpha 3 (Goodpasture antigen) ; Symbol:COL4A3 ; xref: GENATLAS:COL4A3 ; xref: HGNC:2204 ; xref: OMIM:120070 ; xref: UNIPROTKB/SWISSPROT:Q01955 ; xref: REACTOME:Q01955 ; xref: ENSEMBL:ENSG00000169031] OMIM:203780 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 Gene [OrphaNum:120720 ; Name:Collagen, type IV, alpha 4 ; Symbol:COL4A4 ; xref: GENATLAS:COL4A4 ; xref: HGNC:2206 ; xref: OMIM:120131 ; xref: UNIPROTKB/SWISSPROT:P53420 ; xref: REACTOME:P53420 ; xref: ENSEMBL:ENSG00000081052] Orphanet ID- 11851 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120315 ; Name:Tuberous sclerosis 2 ; Symbol:TSC2 ; xref: GENATLAS:TSC2 ; xref: HGNC:12363 ; xref: OMIM:191092 ; xref: UNIPROTKB/SWISSPROT:P49815 ; xref: ENSEMBL:ENSG00000103197 ; xref: REACTOME:P49815] Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Orphanet ID- 11856 OMIM:600273 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 Gene [OrphaNum:117846 ; Name:Polycystic kidney disease 1 (autosomal dominant) ; Symbol:PKD1 ; xref: GENATLAS:PKD1 ; xref: HGNC:9008 ; xref: OMIM:601313 ; xref: UNIPROTKB/SWISSPROT:P98161 ; xref: ENSEMBL:ENSG00000008710] EXACT Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Trisomy 8q Duplication 8q prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Duplication 8q Orphanet ID- 1186 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752 ICD10:Q92.2 EXACT Duplication 8q Renal tubular acidosis type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88937 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11869 Pseudohypoaldosteronism type 2A PHA2A Orphanet ID- 11870 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938 PHA2A prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:145260 EXACT PHA2A Pseudohypoaldosteronism type 2B PHA2B OMIM:614491 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 PHA2B Gene [OrphaNum:120534 ; Name:WNK lysine deficient protein kinase 4 ; Symbol:WNK4 ; xref: GENATLAS:WNK4 ; xref: HGNC:14544 ; xref: OMIM:601844 ; xref: UNIPROTKB/SWISSPROT:Q96J92 ; xref: ENSEMBL:ENSG00000126562] Orphanet ID- 11871 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT PHA2B Pseudohypoaldosteronism type 2C PHA2C Orphanet ID- 11872 PHA2C prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120531 ; Name:WNK lysine deficient protein kinase 1 ; Symbol:WNK1 ; xref: GENATLAS:WNK1 ; xref: HGNC:14540 ; xref: OMIM:605232 ; xref: UNIPROTKB/SWISSPROT:Q9H4A3 ; xref: ENSEMBL:ENSG00000060237] OMIM:614492 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 EXACT PHA2C Autosomal dominant medullary cystic kidney disease without hyperuricemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11881 Autosomal dominant medullary cystic kidney disease with hyperuricemia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 Orphanet ID- 11882 Esophageal malformation Orphanet ID- 11886 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88993 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic lymphedema Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89832 Orphanet ID- 11897 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Palmoplantar keratoderma with tonotubular keratin Orphanet ID- 11898 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89833 Keratosis palmoplantaris papulosa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89834 Orphanet ID- 11899 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Trisomy Xq28 Distal duplication Xq Telomeric duplication Xq Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 Gene [OrphaNum:123186 ; Name:Methyl CpG binding protein 2 (Rett syndrome) ; Symbol:MECP2 ; xref: GENATLAS:MECP2 ; xref: HGNC:6990 ; xref: OMIM:300005 ; xref: UNIPROTKB/SWISSPROT:P51608 ; xref: ENSEMBL:ENSG00000169057] OMIM:300260 Orphanet ID- 1190 OMIM:300815 Telomeric duplication Xq Distal duplication Xq prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; EXACT Telomeric duplication Xq EXACT Distal duplication Xq Porokeratosis punctata palmaris et plantaris prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89835 Autosomal recessive epidermolysis bullosa simplex Gene [OrphaNum:293042 ; Name:Dystonin ; Symbol:DST ; xref: HGNC:1090 ; xref: OMIM:113810 ; xref: GENATLAS:DST ; xref: UNIPROTKB/SWISSPROT:Q03001] ICD10:Q81.0 Gene [OrphaNum:122897 ; Name:Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) ; Symbol:KRT14 ; xref: GENATLAS:KRT14 ; xref: HGNC:6416 ; xref: OMIM:148066 ; xref: UNIPROTKB/SWISSPROT:P02533 ; xref: REACTOME:P02533 ; xref: ENSEMBL:ENSG00000186847] OMIM:601001 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 Orphanet ID- 11903 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Epidermolysis bullosa simplex superficialis ICD10:Q81.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89839 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] Orphanet ID- 11904 OMIM:607600 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Junctional epidermolysis bullosa, non-Herlitz type Junctional epidermolysis bullosa generalisata mitis prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Junctional epidermolysis bullosa generalisata mitis ICD10:Q81.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89840 OMIM:226650 Orphanet ID- 11905 EXACT Junctional epidermolysis bullosa generalisata mitis Centripetal dystrophic epidermolysis bullosa Centripetalis dystrophic epidermolysis bullosa Orphanet ID- 11906 Centripetalis dystrophic epidermolysis bullosa prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q81.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89841 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] EXACT Centripetalis dystrophic epidermolysis bullosa Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis RDEB generalisata mitis RDEB, non-Hallopeau-Siemens type Orphanet ID- 11907 Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis RDEB generalisata mitis prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] ICD10:Q81.2 RDEB, non-Hallopeau-Siemens type EXACT RDEB generalisata mitis EXACT Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis EXACT RDEB, non-Hallopeau-Siemens type Pruriginous dystrophic epidermolysis bullosa OMIM:604129 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:Q81.2 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 Orphanet ID- 11908 Lissencephaly syndrome, Norman-Roberts type Microlissencephaly type A Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 ICD10:Q04.3 Orphanet ID- 11909 OMIM:257320 Microlissencephaly type A prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:118272 ; Name:Reelin ; Symbol:RELN ; xref: HGNC:9957 ; xref: OMIM:600514 ; xref: UNIPROTKB/SWISSPROT:P78509 ; xref: GENATLAS:RELN ; xref: ENSEMBL:ENSG00000189056] EXACT Microlissencephaly type A Idiopathic hydrops fetalis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11910 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89845 X-linked hypophosphatemia X-linked hypophosphatemic rickets XLH Gene [OrphaNum:124239 ; Name:Phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) ; Symbol:PHEX ; xref: ENSEMBL:ENSG00000102174 ; xref: UNIPROTKB/SWISSPROT:P78562 ; xref: GENATLAS:PHEX ; xref: HGNC:8918 ; xref: OMIM:300550] X-linked hypophosphatemic rickets Orphanet ID- 11911 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked dominant; OMIM:307800 ICD10:E83.3 XLH EXACT X-linked hypophosphatemic rickets EXACT XLH Autosomal dominant hypophosphatemic rickets ADHR Autosomal dominant hypophosphatemia Orphanet ID- 11912 ADHR ICD10:E83.3 Gene [OrphaNum:121800 ; Name:Fibroblast growth factor 23 ; Symbol:FGF23 ; xref: GENATLAS:FGF23 ; xref: HGNC:3680 ; xref: OMIM:605380 ; xref: UNIPROTKB/SWISSPROT:Q9GZV9 ; xref: REACTOME:Q9GZV9 ; xref: ENSEMBL:ENSG00000118972] OMIM:193100 Autosomal dominant hypophosphatemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT ADHR EXACT Autosomal dominant hypophosphatemia Infantile Bartter syndrome with deafness Bartter syndrome type 4 Bartter syndrome type 4 Orphanet ID- 11913 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:159370 ; Name:Chloride channel Ka ; Symbol:CLCNKA ; xref: GENATLAS:CLCNKA ; xref: HGNC:2026 ; xref: OMIM:602024 ; xref: UNIPROTKB/SWISSPROT:P51800 ; xref: ENSEMBL:ENSG00000186510] OMIM:602522 Gene [OrphaNum:119089 ; Name:Bartter syndrome, infantile, with sensorineural deafness (Barttin) ; Symbol:BSND ; xref: GENATLAS:BSND ; xref: HGNC:16512 ; xref: OMIM:606412 ; xref: UNIPROTKB/SWISSPROT:Q8WZ55 ; xref: ENSEMBL:ENSG00000162399] Gene [OrphaNum:119467 ; Name:Chloride channel Kb ; Symbol:CLCNKB ; xref: GENATLAS:CLCNKB ; xref: HGNC:2027 ; xref: OMIM:602023 ; xref: UNIPROTKB/SWISSPROT:P51801 ; xref: ENSEMBL:ENSG00000184908] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 OMIM:613090 EXACT Bartter syndrome type 4 Hyperkalemic renal tubular acidosis Renal tubular acidosis type 4 Orphanet ID- 11914 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89939 Renal tubular acidosis type 4 EXACT Renal tubular acidosis type 4 X-linked cone dysfunction syndrome with myopia Bornholm eye disease Orphanet ID- 11919 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:310460 Bornholm eye disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 OMIM:300843 EXACT Bornholm eye disease Primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome with short stature Orphanet ID- 11925 Primary immunodeficiency syndrome with short stature Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90023 OMIM:610798 Gene [OrphaNum:165856 ; Name:Roadblock domain containing 3 ; Symbol:ROBLD3 ; xref: GENATLAS:MAPBPIP ; xref: HGNC:29796 ; xref: OMIM:610389 ; xref: UNIPROTKB/SWISSPROT:Q5VY97 ; xref: ENSEMBL:ENSG00000116586] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Primary immunodeficiency syndrome with short stature Deafness with labyrinthine aplasia, microtia, and microdontia LAMM syndrome Microdontia - type I microtia - deafness Gene [OrphaNum:159580 ; Name:Fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) ; Symbol:FGF3 ; xref: GENATLAS:FGF3 ; xref: HGNC:3681 ; xref: OMIM:164950 ; xref: UNIPROTKB/SWISSPROT:P11487 ; xref: REACTOME:P11487 ; xref: ENSEMBL:ENSG00000186895] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; LAMM syndrome OMIM:610706 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 Microdontia - type I microtia - deafness Orphanet ID- 11926 EXACT Microdontia - type I microtia - deafness EXACT LAMM syndrome Syndactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025 Orphanet ID- 11927 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Primary erythermalgia ICD10:I73.8 Gene [OrphaNum:118525 ; Name:Sodium channel, voltage-gated, type IX, alpha subunit ; Symbol:SCN9A ; xref: GENATLAS:SCN9A ; xref: HGNC:10597 ; xref: OMIM:603415 ; xref: UNIPROTKB/SWISSPROT:Q15858 ; xref: ENSEMBL:ENSG00000169432 ; xref: IUPHAR:584 ; xref: REACTOME:Q15858] Orphanet ID- 11928 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 OMIM:133020 Hemolytic anemia due to glutathione reductase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:138300 Gene [OrphaNum:122298 ; Name:Glutathione reductase ; Symbol:GSR ; xref: GENATLAS:GSR ; xref: HGNC:4623 ; xref: OMIM:138300 ; xref: UNIPROTKB/SWISSPROT:P00390 ; xref: ENSEMBL:ENSG00000104687 ; xref: REACTOME:P00390] ICD10:D55.1 Orphanet ID- 11929 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 Oculogastrointestinal muscular dystrophy Visceral myopathy - familial external ophthalmoplegia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; OMIM:277320 Orphanet ID- 1193 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 ICD10:G71.0 Visceral myopathy - familial external ophthalmoplegia EXACT Visceral myopathy - familial external ophthalmoplegia Nonspherocytic hemolytic anemia due to hexokinase deficiency Gene [OrphaNum:122420 ; Name:Hexokinase 1 ; Symbol:HK1 ; xref: GENATLAS:HK1 ; xref: HGNC:4922 ; xref: OMIM:142600 ; xref: UNIPROTKB/SWISSPROT:P19367 ; xref: ENSEMBL:ENSG00000156515 ; xref: REACTOME:P19367] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 OMIM:235700 Orphanet ID- 11930 ICD10:D55.2 Hemoglobin D disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Orphanet ID- 11936 ICD10:D58.2 Gaisbock syndrome Stress erythrocytosis Stress polycythemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90041 Stress erythrocytosis ICD10:D75.1 Stress polycythemia prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Orphanet ID- 11937 EXACT Stress polycythemia EXACT Stress erythrocytosis Primary familial polycythemia Congenital erythrocytosis due to erythropoietin receptor mutation Congenital polycythemia due to erythropoietin receptor mutation Familial erythrocytosis PFCP Primary congenital erythrocytosis Primary familial and congenital polycythemia prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; PFCP Congenital polycythemia due to erythropoietin receptor mutation Orphanet ID- 11938 OMIM:133100 Primary familial and congenital polycythemia Congenital erythrocytosis due to erythropoietin receptor mutation Gene [OrphaNum:121581 ; Name:Erythropoietin receptor ; Symbol:EPOR ; xref: GENATLAS:EPOR ; xref: HGNC:3416 ; xref: OMIM:133171 ; xref: UNIPROTKB/SWISSPROT:P19235 ; xref: ENSEMBL:ENSG00000187266] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 ICD10:D75.0 Familial erythrocytosis Primary congenital erythrocytosis EXACT Primary congenital erythrocytosis EXACT Primary familial and congenital polycythemia EXACT PFCP EXACT Familial erythrocytosis EXACT Congenital erythrocytosis due to erythropoietin receptor mutation EXACT Congenital polycythemia due to erythropoietin receptor mutation Familial pseudohyperkalemia OMIM:185020 Orphanet ID- 11939 OMIM:609153 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 OMIM:177720 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D58.8 Muscular dystrophy - white matter spongiosis Orphanet ID- 1194 ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1877 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary folate malabsorption Congenital folate malabsorption Gene [OrphaNum:139193 ; Name:Solute carrier family 46 (folate transporter), member 1 ; Symbol:SLC46A1 ; xref: GENATLAS:SLC46A1 ; xref: HGNC:30521 ; xref: OMIM:611672 ; xref: UNIPROTKB/SWISSPROT:Q96NT5 ; xref: REACTOME:Q96NT5 ; xref: ENSEMBL:ENSG00000076351] Orphanet ID- 11940 ICD10:D52.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital folate malabsorption OMIM:229050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 EXACT Congenital folate malabsorption Autosomal recessive limb-girdle muscular dystrophy type 2H LGMD2H Limb-girdle muscular dystrophy due to TRIM32 deficiency Orphanet ID- 1195 ICD10:G71.0 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:254110 Gene [OrphaNum:120273 ; Name:Tripartite motif-containing 32 ; Symbol:TRIM32 ; xref: GENATLAS:TRIM32 ; xref: HGNC:16380 ; xref: OMIM:602290 ; xref: UNIPROTKB/SWISSPROT:Q13049 ; xref: ENSEMBL:ENSG00000119401 ; xref: REACTOME:Q13049] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 Limb-girdle muscular dystrophy due to TRIM32 deficiency LGMD2H EXACT Limb-girdle muscular dystrophy due to TRIM32 deficiency EXACT LGMD2H Acute liver failure Acute hepatic failure Orphanet ID- 11953 prevalence- 1-5 / 10 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062 ICD10:K72.0 Acute hepatic failure EXACT Acute hepatic failure Charcot-Marie-Tooth disease - deafness - intellectual deficit Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 ICD10:G60.0 Orphanet ID- 11973 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:214370 Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers EXACT Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers Autosomal dominant intermediate Charcot-Marie-Tooth disease DI-CMT prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 11977 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114 ICD10:G60.0 DI-CMT EXACT DI-CMT Hereditary motor and sensory neuropathy, Okinawa type HMSNP Hereditary motor and sensory neuropathy, proximal type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:604484 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 HMSNP Orphanet ID- 11978 ICD10:G60.0 Hereditary motor and sensory neuropathy, proximal type EXACT HMSNP EXACT Hereditary motor and sensory neuropathy, proximal type Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type Gene [OrphaNum:123207 ; Name:Mitofusin 2 ; Symbol:MFN2 ; xref: GENATLAS:MFN2 ; xref: HGNC:16877 ; xref: OMIM:608507 ; xref: UNIPROTKB/SWISSPROT:O95140 ; xref: REACTOME:O95140 ; xref: ENSEMBL:ENSG00000116688] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 ICD10:G60.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11979 Amelo-cerebro-hypohidrotic syndrome Epilepsy - dementia - amelogenesis imperfecta Kohlschutter-Tonz syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:226750 Gene [OrphaNum:299622 ; Name:Rogdi homolog (Drosophila) ; Symbol:ROGDI ; xref: HGNC:29478 ; xref: OMIM:614574 ; xref: GENATLAS:ROGDI ; xref: UNIPROTKB/SWISSPROT:Q9GZN7] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 Kohlschutter-Tonz syndrome Epilepsy - dementia - amelogenesis imperfecta Orphanet ID- 1198 ICD10:G40.8 EXACT Kohlschutter-Tonz syndrome EXACT Epilepsy - dementia - amelogenesis imperfecta Axonal Charcot-Marie-Tooth disease with acrodystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11980 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119 ICD10:G60.0 Hereditary motor and sensory neuropathy type 6 CMT6 Charcot-Marie-Tooth type 6 Peripheral neuropathy and optic atrophy Charcot-Marie-Tooth type 6 OMIM:601152 Peripheral neuropathy and optic atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 ICD10:G60.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 11981 CMT6 Gene [OrphaNum:123207 ; Name:Mitofusin 2 ; Symbol:MFN2 ; xref: GENATLAS:MFN2 ; xref: HGNC:16877 ; xref: OMIM:608507 ; xref: UNIPROTKB/SWISSPROT:O95140 ; xref: REACTOME:O95140 ; xref: ENSEMBL:ENSG00000116688] EXACT Charcot-Marie-Tooth type 6 EXACT Peripheral neuropathy and optic atrophy EXACT CMT6 Mandibuloacral dysplasia with type A lipodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 Orphanet ID- 11984 OMIM:248370 ICD10:Q87.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Mandibuloacral dysplasia with type B lipodystrophy OMIM:608612 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 Orphanet ID- 11985 ICD10:Q87.5 Gene [OrphaNum:120620 ; Name:Zinc metallopeptidase (STE24 homolog, S. cerevisiae) ; Symbol:ZMPSTE24 ; xref: GENATLAS:ZMPSTE24 ; xref: HGNC:12877 ; xref: OMIM:606480 ; xref: UNIPROTKB/SWISSPROT:O75844 ; xref: ENSEMBL:ENSG00000084073] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Centrifugal lipodystrophy Orphanet ID- 11986 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90156 Drug-induced localized lipodystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90157 Orphanet ID- 11987 Idiopathic localized lipodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90158 Orphanet ID- 11988 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Panniculitis and localized lipodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90159 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11989 Epilepsy - microcephaly - skeletal dysplasia Battaglia-Neri syndrome Orphanet ID- 1199 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948 OMIM:601352 Battaglia-Neri syndrome EXACT Battaglia-Neri syndrome Pressure-induced localized lipoatrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90160 Orphanet ID- 11990 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Non hereditary late-onset primary lymphedema Meige-like disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90185 ICD10:I89.0 Meige-like disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 11992 EXACT Meige-like disease Meige disease Hereditary lymphedema type II Meige lymphedema Hereditary lymphedema type II Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 ICD10:I89.0 Orphanet ID- 11993 OMIM:153200 Meige lymphedema prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Meige lymphedema EXACT Hereditary lymphedema type II Farber lipogranulomatosis Ceramidase deficiency OMIM:228000 Ceramidase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 Gene [OrphaNum:121449 ; Name:N-acylsphingosine amidohydrolase (acid ceramidase) 1 ; Symbol:ASAH1 ; xref: REACTOME:Q13510 ; xref: GENATLAS:ASAH1 ; xref: HGNC:735 ; xref: UNIPROTKB/SWISSPROT:Q13510 ; xref: OMIM:613468 ; xref: ENSEMBL:ENSG00000104763] Orphanet ID- 12 ICD10:E75.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; EXACT Ceramidase deficiency Fragile X syndrome FRAXA syndrome FXS FraX syndrome Martin-Bell syndrome ICD10:Q99.2 OMIM:300624 FraX syndrome Gene [OrphaNum:121878 ; Name:Fragile X mental retardation 1 ; Symbol:FMR1 ; xref: GENATLAS:FMR1 ; xref: HGNC:3775 ; xref: OMIM:309550 ; xref: UNIPROTKB/SWISSPROT:Q06787 ; xref: ENSEMBL:ENSG00000102081] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 Orphanet ID- 120 FRAXA syndrome Martin-Bell syndrome Gene [OrphaNum:159590 ; Name:Fragile X mental retardation associated 3 ; Symbol:FMR3 ; xref: GENATLAS:FMR3 ; xref: HGNC:3777] FXS prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked dominant; EXACT Martin-Bell syndrome EXACT FXS EXACT FraX syndrome EXACT FRAXA syndrome Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; OMIM:200170 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301 Orphanet ID- 12003 Parkes Weber syndrome Gene [OrphaNum:118231 ; Name:RAS p21 protein activator (GTPase activating protein) 1 ; Symbol:RASA1 ; xref: GENATLAS:RASA1 ; xref: HGNC:9871 ; xref: OMIM:139150 ; xref: UNIPROTKB/SWISSPROT:P20936 ; xref: ENSEMBL:ENSG00000145715 ; xref: REACTOME:P20936] ICD10:Q87.2 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 12004 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 OMIM:608355 Klippel-Trenaunay syndrome Gene [OrphaNum:119516 ; Name:Angiogenic factor with G patch and FHA domains 1 ; Symbol:AGGF1 ; xref: GENATLAS:AGGF1 ; xref: HGNC:24684 ; xref: OMIM:608464 ; xref: UNIPROTKB/SWISSPROT:Q8N302 ; xref: ENSEMBL:ENSG00000164252] Orphanet ID- 12005 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; ICD10:Q87.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 OMIM:149000 Ehlers-Danlos syndrome type 1 EDS I EDS I Gene [OrphaNum:120730 ; Name:Collagen, type V, alpha 2 ; Symbol:COL5A2 ; xref: GENATLAS:COL5A2 ; xref: HGNC:2210 ; xref: OMIM:120190 ; xref: UNIPROTKB/SWISSPROT:P05997 ; xref: REACTOME:P05997 ; xref: ENSEMBL:ENSG00000204262] Gene [OrphaNum:120728 ; Name:Collagen, type V, alpha 1 ; Symbol:COL5A1 ; xref: GENATLAS:COL5A1 ; xref: HGNC:2209 ; xref: OMIM:120215 ; xref: UNIPROTKB/SWISSPROT:P20908 ; xref: ENSEMBL:ENSG00000130635 ; xref: REACTOME:P20908] Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12006 OMIM:130000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90309 ICD10:Q79.6 EXACT EDS I Ehlers-Danlos syndrome type 2 EDS II EDS II Gene [OrphaNum:120730 ; Name:Collagen, type V, alpha 2 ; Symbol:COL5A2 ; xref: GENATLAS:COL5A2 ; xref: HGNC:2210 ; xref: OMIM:120190 ; xref: UNIPROTKB/SWISSPROT:P05997 ; xref: REACTOME:P05997 ; xref: ENSEMBL:ENSG00000204262] ICD10:Q79.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90318 Orphanet ID- 12007 OMIM:130010 Gene [OrphaNum:120728 ; Name:Collagen, type V, alpha 1 ; Symbol:COL5A1 ; xref: GENATLAS:COL5A1 ; xref: HGNC:2209 ; xref: OMIM:120215 ; xref: UNIPROTKB/SWISSPROT:P20908 ; xref: ENSEMBL:ENSG00000130635 ; xref: REACTOME:P20908] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT EDS II Cockayne syndrome type 1 OMIM:216411 OMIM:216400 OMIM:133540 Orphanet ID- 12008 Gene [OrphaNum:121599 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 6 ; Symbol:ERCC6 ; xref: GENATLAS:ERCC6 ; xref: HGNC:3438 ; xref: OMIM:609413 ; xref: UNIPROTKB/SWISSPROT:Q03468 ; xref: REACTOME:Q03468 ; xref: ENSEMBL:ENSG00000225830] ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121604 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 8 ; Symbol:ERCC8 ; xref: GENATLAS:ERCC8 ; xref: HGNC:3439 ; xref: OMIM:609412 ; xref: UNIPROTKB/SWISSPROT:Q13216 ; xref: REACTOME:Q13216 ; xref: ENSEMBL:ENSG00000049167] Cockayne syndrome type 2 OMIM:216411 Orphanet ID- 12009 OMIM:216400 ICD10:Q87.8 Gene [OrphaNum:121604 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 8 ; Symbol:ERCC8 ; xref: GENATLAS:ERCC8 ; xref: HGNC:3439 ; xref: OMIM:609412 ; xref: UNIPROTKB/SWISSPROT:Q13216 ; xref: REACTOME:Q13216 ; xref: ENSEMBL:ENSG00000049167] Gene [OrphaNum:121599 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 6 ; Symbol:ERCC6 ; xref: GENATLAS:ERCC6 ; xref: HGNC:3438 ; xref: OMIM:609413 ; xref: UNIPROTKB/SWISSPROT:Q03468 ; xref: REACTOME:Q03468 ; xref: ENSEMBL:ENSG00000225830] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 OMIM:133540 Cockayne syndrome type 3 OMIM:216411 OMIM:216400 Orphanet ID- 12010 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 Gene [OrphaNum:121599 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 6 ; Symbol:ERCC6 ; xref: GENATLAS:ERCC6 ; xref: HGNC:3438 ; xref: OMIM:609413 ; xref: UNIPROTKB/SWISSPROT:Q03468 ; xref: REACTOME:Q03468 ; xref: ENSEMBL:ENSG00000225830] OMIM:133540 ICD10:Q87.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121604 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 8 ; Symbol:ERCC8 ; xref: GENATLAS:ERCC8 ; xref: HGNC:3439 ; xref: OMIM:609412 ; xref: UNIPROTKB/SWISSPROT:Q13216 ; xref: REACTOME:Q13216 ; xref: ENSEMBL:ENSG00000049167] Congenital generalized hypertrichosis, Ambras type Orphanet ID- 12014 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90336 Margarita island ectodermal dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90338 Orphanet ID- 12016 Rosselli-Gulienetti syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90339 Orphanet ID- 12017 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Blau syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:186580 Gene [OrphaNum:123845 ; Name:Nucleotide-binding oligomerization domain containing 2 ; Symbol:NOD2 ; xref: ENSEMBL:ENSG00000167207 ; xref: REACTOME:Q9HC29 ; xref: GENATLAS:NOD2 ; xref: HGNC:5331 ; xref: OMIM:605956 ; xref: UNIPROTKB/SWISSPROT:Q9HC29] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 Orphanet ID- 12018 Early-onset sarcoidosis OMIM:609464 Gene [OrphaNum:123845 ; Name:Nucleotide-binding oligomerization domain containing 2 ; Symbol:NOD2 ; xref: ENSEMBL:ENSG00000167207 ; xref: REACTOME:Q9HC29 ; xref: GENATLAS:NOD2 ; xref: HGNC:5331 ; xref: OMIM:605956 ; xref: UNIPROTKB/SWISSPROT:Q9HC29] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90341 Orphanet ID- 12019 Xeroderma pigmentosum variant XPV OMIM:278750 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 12020 Gene [OrphaNum:117931 ; Name:Polymerase (DNA directed), eta ; Symbol:POLH ; xref: GENATLAS:POLH ; xref: HGNC:9181 ; xref: OMIM:603968 ; xref: UNIPROTKB/SWISSPROT:Q9Y253 ; xref: ENSEMBL:ENSG00000170734 ; xref: REACTOME:Q9Y253] ICD10:Q82.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 XPV EXACT XPV Unclassified metaphyseal chondrodysplasia Orphanet ID- 12022 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90345 Autosomal dominant cutis laxa ADCL OMIM:123700 Orphanet ID- 12024 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:614434 Gene [OrphaNum:121746 ; Name:Fibulin 5 ; Symbol:FBLN5 ; xref: GENATLAS:FBLN5 ; xref: HGNC:3602 ; xref: OMIM:604580 ; xref: UNIPROTKB/SWISSPROT:Q9UBX5 ; xref: ENSEMBL:ENSG00000140092] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 ADCL Gene [OrphaNum:121517 ; Name:Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) ; Symbol:ELN ; xref: GENATLAS:ELN ; xref: HGNC:3327 ; xref: OMIM:130160 ; xref: UNIPROTKB/SWISSPROT:P15502 ; xref: ENSEMBL:ENSG00000049540] EXACT ADCL Autosomal recessive cutis laxa type 1 ARCL1 Autosomal recessive cutis laxa with severe systemic involvement Autosomal recessive cutis laxa, pulmonary emphysema type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Gene [OrphaNum:121299 ; Name:EGF-containing fibulin-like extracellular matrix protein 2 ; Symbol:EFEMP2 ; xref: GENATLAS:EFEMP2 ; xref: HGNC:3219 ; xref: OMIM:604633 ; xref: UNIPROTKB/SWISSPROT:O95967 ; xref: ENSEMBL:ENSG00000172638] Autosomal recessive cutis laxa with severe systemic involvement Orphanet ID- 12025 Autosomal recessive cutis laxa, pulmonary emphysema type OMIM:219100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 Gene [OrphaNum:121746 ; Name:Fibulin 5 ; Symbol:FBLN5 ; xref: GENATLAS:FBLN5 ; xref: HGNC:3602 ; xref: OMIM:604580 ; xref: UNIPROTKB/SWISSPROT:Q9UBX5 ; xref: ENSEMBL:ENSG00000140092] ARCL1 OMIM:614437 EXACT ARCL1 EXACT Autosomal recessive cutis laxa, pulmonary emphysema type EXACT Autosomal recessive cutis laxa with severe systemic involvement Autosomal recessive cutis laxa type 2 ARCL2 Autosomal recessive cutis laxa, Debré type Cutis laxa with joint laxity and developmental delay Autosomal recessive cutis laxa, Debré type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:219200 Gene [OrphaNum:201595 ; Name:Pyrroline-5-carboxylate reductase 1 ; Symbol:PYCR1 ; xref: ENSEMBL:ENSG00000183010 ; xref: GENATLAS:PYCR1 ; xref: HGNC:9721 ; xref: OMIM:179035 ; xref: UNIPROTKB/SWISSPROT:P32322 ; xref: REACTOME:P32322] Orphanet ID- 12026 OMIM:612940 ARCL2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 Cutis laxa with joint laxity and developmental delay Gene [OrphaNum:159322 ; Name:ATPase, H+ transporting, lysosomal V0 subunit a2 ; Symbol:ATP6V0A2 ; xref: GENATLAS:ATP6V0A2 ; xref: HGNC:18481 ; xref: OMIM:611716 ; xref: UNIPROTKB/SWISSPROT:Q9Y487 ; xref: ENSEMBL:ENSG00000185344 ; xref: REACTOME:Q9Y487] EXACT ARCL2 EXACT Cutis laxa with joint laxity and developmental delay EXACT Autosomal recessive cutis laxa, Debré type Brittle cornea syndrome Gene [OrphaNum:270336 ; Name:PR domain containing 5 ; Symbol:PRDM5 ; xref: ENSEMBL:ENSG00000138738 ; xref: OMIM:614161 ; xref: UNIPROTKB/SWISSPROT:Q9NQX1 ; xref: HGNC:9349 ; xref: GENATLAS:PRDM5] OMIM:229200 ICD10:Q79.6 Orphanet ID- 12028 Gene [OrphaNum:159463 ; Name:Zinc finger protein 469 ; Symbol:ZNF469 ; xref: GENATLAS:ZNF469 ; xref: HGNC:23216 ; xref: OMIM:612078 ; xref: UNIPROTKB/SWISSPROT:Q96JG9 ; xref: ENSEMBL:ENSG00000225614] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:614170 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 Congenital intestinal lymphangiectasia Orphanet ID- 12029 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90360 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Primary intestinal lymphangiectasia Waldmann disease prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Waldmann disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362 Orphanet ID- 12030 EXACT Waldmann disease Secondary intestinal lymphangiectasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90363 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12031 Hypotrichosis simplex of the scalp Hereditary hypotrichosis simplex of the scalp OMIM:146520 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12032 Gene [OrphaNum:119324 ; Name:Corneodesmosin ; Symbol:CDSN ; xref: GENATLAS:CDSN ; xref: HGNC:1802 ; xref: OMIM:602593 ; xref: UNIPROTKB/SWISSPROT:Q15517 ; xref: ENSEMBL:ENSG00000137197] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368 Hereditary hypotrichosis simplex of the scalp Gene [OrphaNum:229791 ; Name:Keratin 74 ; Symbol:KRT74 ; xref: ENSEMBL:ENSG00000170484 ; xref: GENATLAS:KRT74 ; xref: HGNC:28929 ; xref: OMIM:608248 ; xref: UNIPROTKB/SWISSPROT:Q7RTS7] OMIM:613981 EXACT Hereditary hypotrichosis simplex of the scalp Anonychia - onychodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390 OMIM:614149 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12034 ICD10:Q84.3 Disseminated superficial actinic porokeratosis type 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12035 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90391 Disseminated superficial actinic porokeratosis type 2 Orphanet ID- 12036 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90392 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X-linked nonsyndromic sensorineural deafness type DFN X-linked isolated neurosensory deafness type DFN X-linked isolated neurosensory hearing loss type DFN X-linked isolated sensorineural deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked nonsyndromic neurosensory deafness type DFN X-linked nonsyndromic neurosensory hearing loss type DFN X-linked nonsyndromic sensorineural hearing loss type DFN X-linked nonsyndromic sensorineural hearing loss type DFN X-linked isolated neurosensory hearing loss type DFN OMIM:304500 Gene [OrphaNum:118076 ; Name:Phosphoribosyl pyrophosphate synthetase 1 ; Symbol:PRPS1 ; xref: GENATLAS:PRPS1 ; xref: HGNC:9462 ; xref: OMIM:311850 ; xref: UNIPROTKB/SWISSPROT:P60891 ; xref: ENSEMBL:ENSG00000147224 ; xref: REACTOME:P60891] Orphanet ID- 12045 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625 Gene [OrphaNum:268803 ; Name:small muscle protein, X-linked ; Symbol:SMPX ; xref: HGNC:11122 ; xref: OMIM:300226 ; xref: GENATLAS:SMPX ; xref: UNIPROTKB/SWISSPROT:Q9UHP9 ; xref: ENSEMBL:ENSG00000091482] X-linked isolated sensorineural deafness type DFN OMIM:300066 OMIM:304590 OMIM:300030 X-linked nonsyndromic neurosensory deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked isolated neurosensory deafness type DFN X-linked nonsyndromic neurosensory hearing loss type DFN EXACT X-linked isolated sensorineural deafness type DFN EXACT X-linked isolated sensorineural hearing loss type DFN EXACT X-linked isolated neurosensory hearing loss type DFN EXACT X-linked isolated neurosensory deafness type DFN EXACT X-linked nonsyndromic neurosensory deafness type DFN EXACT X-linked nonsyndromic neurosensory hearing loss type DFN EXACT X-linked nonsyndromic sensorineural hearing loss type DFN Autosomal dominant nonsyndromic sensorineural deafness type DFNA Autosomal dominant isolated neurosensory deafness type DFNA Autosomal dominant isolated neurosensory hearing loss type DFNA Autosomal dominant isolated sensorineural deafness type DFNA Autosomal dominant isolated sensorineural hearing loss type DFNA Autosomal dominant nonsyndromic neurosensory deafness type DFNA Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA OMIM:600101 Gene [OrphaNum:120015 ; Name:Tectorin alpha ; Symbol:TECTA ; xref: GENATLAS:TECTA ; xref: HGNC:11720 ; xref: OMIM:602574 ; xref: UNIPROTKB/SWISSPROT:O75443 ; xref: ENSEMBL:ENSG00000109927] OMIM:600652 OMIM:607683 OMIM:607197 Autosomal dominant isolated neurosensory hearing loss type DFNA Gene [OrphaNum:122135 ; Name:Gap junction protein, beta 3, 31kDa ; Symbol:GJB3 ; xref: GENATLAS:GJB3 ; xref: HGNC:4285 ; xref: OMIM:603324 ; xref: UNIPROTKB/SWISSPROT:O75712 ; xref: REACTOME:O75712 ; xref: ENSEMBL:ENSG00000188910] OMIM:605583 Gene [OrphaNum:117957 ; Name:POU class 4 homeobox 3 ; Symbol:POU4F3 ; xref: GENATLAS:POU4F3 ; xref: HGNC:9220 ; xref: OMIM:602460 ; xref: UNIPROTKB/SWISSPROT:Q15319 ; xref: ENSEMBL:ENSG00000091010] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:608394 OMIM:607453 OMIM:600965 OMIM:606705 OMIM:608641 OMIM:614152 OMIM:614614 OMIM:608645 OMIM:607841 OMIM:606012 Gene [OrphaNum:118723 ; Name:SIX homeobox 1 ; Symbol:SIX1 ; xref: GENATLAS:SIX1 ; xref: HGNC:10887 ; xref: OMIM:601205 ; xref: UNIPROTKB/SWISSPROT:Q15475 ; xref: ENSEMBL:ENSG00000126778] Gene [OrphaNum:120514 ; Name:Wolfram syndrome 1 (wolframin) ; Symbol:WFS1 ; xref: ENSEMBL:ENSG00000109501 ; xref: REACTOME:O76024 ; xref: GENATLAS:WFS1 ; xref: HGNC:12762 ; xref: OMIM:606201 ; xref: UNIPROTKB/SWISSPROT:O76024] Gene [OrphaNum:304486 ; Name:Diaphanous homolog 3 (Drosophila) ; Symbol:DIAPH3 ; xref: HGNC:15480 ; xref: OMIM:614567 ; xref: GENATLAS:DIAPH3 ; xref: UNIPROTKB/SWISSPROT:Q9NSV4] OMIM:606451 OMIM:600994 OMIM:608224 OMIM:124900 Autosomal dominant isolated sensorineural deafness type DFNA OMIM:609965 OMIM:612431 Gene [OrphaNum:123628 ; Name:Myosin, heavy chain 9, non-muscle ; Symbol:MYH9 ; xref: GENATLAS:MYH9 ; xref: HGNC:7579 ; xref: OMIM:160775 ; xref: UNIPROTKB/SWISSPROT:P35579 ; xref: REACTOME:P35579 ; xref: ENSEMBL:ENSG00000100345] Gene [OrphaNum:169896 ; Name:Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 ; Symbol:SLC17A8 ; xref: GENATLAS:SLC17A8 ; xref: HGNC:20151 ; xref: OMIM:607557 ; xref: UNIPROTKB/SWISSPROT:Q8NDX2 ; xref: ENSEMBL:ENSG00000179520 ; xref: REACTOME:Q8NDX2] Gene [OrphaNum:120693 ; Name:Collagen, type XI, alpha 2 ; Symbol:COL11A2 ; xref: GENATLAS:COL11A2 ; xref: HGNC:2187 ; xref: OMIM:120290 ; xref: UNIPROTKB/SWISSPROT:P13942 ; xref: ENSEMBL:ENSG00000204248] OMIM:601868 OMIM:603964 OMIM:614211 OMIM:601412 Gene [OrphaNum:242924 ; Name:Tight junction protein 2 (zona occludens 2) ; Symbol:TJP2 ; xref: ENSEMBL:ENSG00000119139 ; xref: REACTOME:Q9UDY2 ; xref: GENATLAS:TJP2 ; xref: HGNC:11828 ; xref: UNIPROTKB/SWISSPROT:Q9UDY2 ; xref: OMIM:607709] Gene [OrphaNum:166815 ; Name:Actin, gamma 1 ; Symbol:ACTG1 ; xref: GENATLAS:ACTG1 ; xref: HGNC:144 ; xref: OMIM:102560 ; xref: UNIPROTKB/SWISSPROT:P63261 ; xref: REACTOME:P63261 ; xref: ENSEMBL:ENSG00000184009] OMIM:613558 OMIM:613074 Orphanet ID- 12046 OMIM:606346 Gene [OrphaNum:121056 ; Name:Deafness, autosomal dominant 5 ; Symbol:DFNA5 ; xref: GENATLAS:DFNA5 ; xref: HGNC:2810 ; xref: OMIM:608798 ; xref: UNIPROTKB/SWISSPROT:O60443 ; xref: ENSEMBL:ENSG00000105928] Gene [OrphaNum:123653 ; Name:Myosin VIIA ; Symbol:MYO7A ; xref: GENATLAS:MYO7A ; xref: HGNC:7606 ; xref: OMIM:276903 ; xref: UNIPROTKB/SWISSPROT:Q13402 ; xref: ENSEMBL:ENSG00000137474] OMIM:601369 Gene [OrphaNum:159507 ; Name:Grainyhead-like 2 (Drosophila) ; Symbol:GRHL2 ; xref: GENATLAS:GRHL2 ; xref: HGNC:2799 ; xref: OMIM:608576 ; xref: UNIPROTKB/SWISSPROT:Q6ISB3 ; xref: ENSEMBL:ENSG00000083307] Autosomal dominant isolated sensorineural hearing loss type DFNA Gene [OrphaNum:121073 ; Name:Diaphanous homolog 1 (Drosophila) ; Symbol:DIAPH1 ; xref: OMIM:602121 ; xref: UNIPROTKB/SWISSPROT:O60610 ; xref: GENATLAS:DIAPH1 ; xref: HGNC:2876 ; xref: ENSEMBL:ENSG00000131504] OMIM:609129 Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA Autosomal dominant isolated neurosensory deafness type DFNA OMIM:604717 Gene [OrphaNum:122129 ; Name:Gap junction protein, beta 2, 26kDa ; Symbol:GJB2 ; xref: GENATLAS:GJB2 ; xref: HGNC:4284 ; xref: OMIM:121011 ; xref: UNIPROTKB/SWISSPROT:P29033 ; xref: ENSEMBL:ENSG00000165474 ; xref: REACTOME:P29033] Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA Autosomal dominant nonsyndromic neurosensory deafness type DFNA Gene [OrphaNum:120130 ; Name:Transmembrane channel-like 1 ; Symbol:TMC1 ; xref: GENATLAS:TMC1 ; xref: HGNC:16513 ; xref: OMIM:606706 ; xref: UNIPROTKB/SWISSPROT:Q8TDI8 ; xref: ENSEMBL:ENSG00000165091] OMIM:603622 OMIM:608372 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635 OMIM:601543 OMIM:601544 Gene [OrphaNum:159308 ; Name:Coiled-coil domain containing 50 ; Symbol:CCDC50 ; xref: GENATLAS:CCDC50 ; xref: HGNC:18111 ; xref: OMIM:611051 ; xref: UNIPROTKB/SWISSPROT:Q8IVM0 ; xref: ENSEMBL:ENSG00000152492] Gene [OrphaNum:166803 ; Name:Myosin IA ; Symbol:MYO1A ; xref: ENSEMBL:ENSG00000166866 ; xref: GENATLAS:MYO1A ; xref: HGNC:7595 ; xref: OMIM:601478 ; xref: UNIPROTKB/SWISSPROT:Q9UBC5] Gene [OrphaNum:270442 ; Name:diablo, IAP-binding mitochondrial protein ; Symbol:DIABLO ; xref: ENSEMBL:ENSG00000184047 ; xref: REACTOME:Q9NR28 ; xref: HGNC:21528 ; xref: OMIM:605219 ; xref: GENATLAS:DIABLO ; xref: UNIPROTKB/SWISSPROT:Q9NR28] Gene [OrphaNum:120681 ; Name:Coagulation factor C homolog, cochlin (Limulus polyphemus) ; Symbol:COCH ; xref: GENATLAS:COCH ; xref: HGNC:2180 ; xref: OMIM:603196 ; xref: UNIPROTKB/SWISSPROT:O43405 ; xref: ENSEMBL:ENSG00000100473] OMIM:612643 OMIM:612644 Gene [OrphaNum:123610 ; Name:Myosin, heavy chain 14 ; Symbol:MYH14 ; xref: GENATLAS:MYH14 ; xref: HGNC:23212 ; xref: OMIM:608568 ; xref: UNIPROTKB/SWISSPROT:Q7Z406 ; xref: ENSEMBL:ENSG00000105357 ; xref: REACTOME:Q7Z406] OMIM:612642 Gene [OrphaNum:166809 ; Name:Crystallin, mu ; Symbol:CRYM ; xref: GENATLAS:CRYM ; xref: HGNC:2418 ; xref: OMIM:123740 ; xref: UNIPROTKB/SWISSPROT:Q14894 ; xref: ENSEMBL:ENSG00000103316] OMIM:606282 OMIM:605192 Gene [OrphaNum:123648 ; Name:Myosin VI ; Symbol:MYO6 ; xref: GENATLAS:MYO6 ; xref: HGNC:7605 ; xref: OMIM:600970 ; xref: UNIPROTKB/SWISSPROT:Q9UM54 ; xref: REACTOME:Q9UM54 ; xref: ENSEMBL:ENSG00000196586] OMIM:607017 OMIM:601317 OMIM:601316 Gene [OrphaNum:265505 ; Name:carcinoembryonic antigen-related cell adhesion molecule 16 ; Symbol:CEACAM16 ; xref: ENSEMBL:ENSG00000213892 ; xref: HGNC:31948 ; xref: UNIPROTKB/SWISSPROT:Q2WEN9 ; xref: GENATLAS:CEACAM16 ; xref: OMIM:614591] OMIM:608652 Gene [OrphaNum:122142 ; Name:Gap junction protein, beta 6 ; Symbol:GJB6 ; xref: GENATLAS:GJB6 ; xref: HGNC:4288 ; xref: OMIM:604418 ; xref: UNIPROTKB/SWISSPROT:O95452 ; xref: ENSEMBL:ENSG00000121742 ; xref: REACTOME:O95452] Gene [OrphaNum:189333 ; Name:MicroRNA 96 ; Symbol:MIR96 ; xref: ENSEMBL:ENSG00000199158 ; xref: HGNC:31648 ; xref: OMIM:611606] Gene [OrphaNum:121654 ; Name:Eyes absent homolog 4 (Drosophila) ; Symbol:EYA4 ; xref: GENATLAS:EYA4 ; xref: HGNC:3522 ; xref: OMIM:603550 ; xref: UNIPROTKB/SWISSPROT:O95677 ; xref: ENSEMBL:ENSG00000112319] Gene [OrphaNum:122821 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 4 ; Symbol:KCNQ4 ; xref: GENATLAS:KCNQ4 ; xref: HGNC:6298 ; xref: OMIM:603537 ; xref: UNIPROTKB/SWISSPROT:P56696 ; xref: ENSEMBL:ENSG00000117013 ; xref: IUPHAR:563 ; xref: REACTOME:P56696] OMIM:602459 EXACT Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA EXACT Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA EXACT Autosomal dominant nonsyndromic neurosensory deafness type DFNA EXACT Autosomal dominant isolated neurosensory hearing loss type DFNA EXACT Autosomal dominant isolated sensorineural deafness type DFNA EXACT Autosomal dominant isolated neurosensory deafness type DFNA EXACT Autosomal dominant isolated sensorineural hearing loss type DFNA Autosomal recessive nonsyndromic sensorineural deafness type DFNB Autosomal recessive isolated neurosensory deafness type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive nonsyndromic neurosensory deafness type DFNB Gene [OrphaNum:225329 ; Name:Glutaredoxin, cysteine rich 1 ; Symbol:GRXCR1 ; xref: ENSEMBL:ENSG00000215203 ; xref: GENATLAS:GRXCR1 ; xref: HGNC:31673 ; xref: UNIPROTKB/SWISSPROT:A8MXD5 ; xref: OMIM:613283] OMIM:603629 Gene [OrphaNum:227071 ; Name:Taperin ; Symbol:TPRN ; xref: GENATLAS:TPRN ; xref: HGNC:26894 ; xref: OMIM:613354 ; xref: UNIPROTKB/SWISSPROT:Q4KMQ1 ; xref: ENSEMBL:ENSG00000176058] Gene [OrphaNum:139217 ; Name:Deafness, autosomal recessive 31 ; Symbol:DFNB31 ; xref: GENATLAS:DFNB31 ; xref: HGNC:16361 ; xref: OMIM:607928 ; xref: UNIPROTKB/SWISSPROT:Q9P202 ; xref: ENSEMBL:ENSG00000095397] OMIM:605608 Gene [OrphaNum:123648 ; Name:Myosin VI ; Symbol:MYO6 ; xref: GENATLAS:MYO6 ; xref: HGNC:7605 ; xref: OMIM:600970 ; xref: UNIPROTKB/SWISSPROT:Q9UM54 ; xref: REACTOME:Q9UM54 ; xref: ENSEMBL:ENSG00000196586] OMIM:613865 Gene [OrphaNum:270208 ; Name:GIPC PDZ domain containing family, member 3 ; Symbol:GIPC3 ; xref: ENSEMBL:ENSG00000179855 ; xref: HGNC:18183 ; xref: GENATLAS:GIPC3 ; xref: OMIM:608792 ; xref: UNIPROTKB/SWISSPROT:Q8TF64] Gene [OrphaNum:120145 ; Name:Transmembrane inner ear ; Symbol:TMIE ; xref: GENATLAS:TMIE ; xref: HGNC:30800 ; xref: OMIM:607237 ; xref: UNIPROTKB/SWISSPROT:Q8NEW7 ; xref: ENSEMBL:ENSG00000181585] Gene [OrphaNum:169402 ; Name:Leucine rich transmembrane and 0-methyltransferase domain containing ; Symbol:LRTOMT ; xref: GENATLAS:COMT2 ; xref: HGNC:25033 ; xref: OMIM:612414 ; xref: UNIPROTKB/SWISSPROT:Q96E66 ; xref: ENSEMBL:ENSG00000184154] OMIM:610143 OMIM:602092 Gene [OrphaNum:123641 ; Name:Myosin XVA ; Symbol:MYO15A ; xref: GENATLAS:MYO15A ; xref: HGNC:7594 ; xref: OMIM:602666 ; xref: UNIPROTKB/SWISSPROT:Q9UKN7 ; xref: ENSEMBL:ENSG00000091536] OMIM:610153 Gene [OrphaNum:118821 ; Name:Solute carrier family 26, member 4 ; Symbol:SLC26A4 ; xref: GENATLAS:SLC26A4 ; xref: HGNC:8818 ; xref: OMIM:605646 ; xref: UNIPROTKB/SWISSPROT:O43511 ; xref: ENSEMBL:ENSG00000091137 ; xref: REACTOME:O43511] OMIM:610212 OMIM:609533 OMIM:608219 OMIM:607239 Gene [OrphaNum:166807 ; Name:Deafness, autosomal recessive 59 ; Symbol:DFNB59 ; xref: GENATLAS:DFNB59 ; xref: HGNC:29502 ; xref: OMIM:610219 ; xref: UNIPROTKB/SWISSPROT:Q0ZLH3 ; xref: ENSEMBL:ENSG00000204311] OMIM:609823 OMIM:601386 OMIM:613718 OMIM:610154 OMIM:608565 OMIM:614617 OMIM:613685 OMIM:611022 OMIM:605428 Gene [OrphaNum:120433 ; Name:Usher syndrome 1C (autosomal recessive, severe) ; Symbol:USH1C ; xref: GENATLAS:USH1C ; xref: HGNC:12597 ; xref: OMIM:605242 ; xref: UNIPROTKB/SWISSPROT:Q9Y6N9 ; xref: ENSEMBL:ENSG00000006611] OMIM:610419 OMIM:604943 OMIM:610265 OMIM:613916 Gene [OrphaNum:166800 ; Name:Otoancorin ; Symbol:OTOA ; xref: GENATLAS:OTOA ; xref: HGNC:16378 ; xref: OMIM:607038 ; xref: UNIPROTKB/SWISSPROT:Q7RTW8 ; xref: ENSEMBL:ENSG00000155719] OMIM:607039 Orphanet ID- 12047 Gene [OrphaNum:159213 ; Name:TRIO and F-actin binding protein ; Symbol:TRIOBP ; xref: GENATLAS:TRIOBP ; xref: HGNC:17009 ; xref: OMIM:609761 ; xref: UNIPROTKB/SWISSPROT:Q9H2D6 ; xref: ENSEMBL:ENSG00000100106] OMIM:609006 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:240651 ; Name:G-protein signaling modulator 2 ; Symbol:GPSM2 ; xref: GENATLAS:GPSM2 ; xref: HGNC:29501 ; xref: OMIM:609245 ; xref: UNIPROTKB/SWISSPROT:P81274 ; xref: ENSEMBL:ENSG00000121957] Gene [OrphaNum:160240 ; Name:Espin ; Symbol:ESPN ; xref: GENATLAS:ESPN ; xref: HGNC:13281 ; xref: OMIM:606351 ; xref: UNIPROTKB/SWISSPROT:B1AK53 ; xref: ENSEMBL:ENSG00000187017] OMIM:614414 Gene [OrphaNum:120693 ; Name:Collagen, type XI, alpha 2 ; Symbol:COL11A2 ; xref: GENATLAS:COL11A2 ; xref: HGNC:2187 ; xref: OMIM:120290 ; xref: UNIPROTKB/SWISSPROT:P13942 ; xref: ENSEMBL:ENSG00000204248] OMIM:609946 Gene [OrphaNum:160244 ; Name:Estrogen-related receptor beta ; Symbol:ESRRB ; xref: REACTOME:O95718 ; xref: GENATLAS:ESRRB ; xref: HGNC:3473 ; xref: OMIM:602167 ; xref: UNIPROTKB/SWISSPROT:O95718 ; xref: ENSEMBL:ENSG00000119715 ; xref: IUPHAR:623] OMIM:603098 Gene [OrphaNum:259373 ; Name:immunoglobulin-like domain containing receptor 1 ; Symbol:ILDR1 ; xref: ENSEMBL:ENSG00000145103 ; xref: HGNC:28741 ; xref: GENATLAS:ILDR1 ; xref: UNIPROTKB/SWISSPROT:Q86SU0 ; xref: OMIM:609739] Gene [OrphaNum:233019 ; Name:Serpin peptidase inhibitor, clade B (ovalbumin), member 6 ; Symbol:SERPINB6 ; xref: GENATLAS:SERPINB6 ; xref: ENSEMBL:ENSG00000124570 ; xref: HGNC:8950 ; xref: UNIPROTKB/SWISSPROT:P35237 ; xref: OMIM:173321] OMIM:612645 Gene [OrphaNum:221356 ; Name:Lipoxygenase homology domains 1 ; Symbol:LOXHD1 ; xref: ENSEMBL:ENSG00000167210 ; xref: GENATLAS:LOXHD1 ; xref: HGNC:26521 ; xref: OMIM:613072 ; xref: UNIPROTKB/SWISSPROT:Q8IVV2] Gene [OrphaNum:120130 ; Name:Transmembrane channel-like 1 ; Symbol:TMC1 ; xref: GENATLAS:TMC1 ; xref: HGNC:16513 ; xref: OMIM:606706 ; xref: UNIPROTKB/SWISSPROT:Q8TDI8 ; xref: ENSEMBL:ENSG00000165091] Gene [OrphaNum:189344 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 10 ; Symbol:KCNJ10 ; xref: IUPHAR:438 ; xref: REACTOME:P78508 ; xref: ENSEMBL:ENSG00000177807 ; xref: GENATLAS:KCNJ10 ; xref: HGNC:6256 ; xref: OMIM:602208 ; xref: UNIPROTKB/SWISSPROT:P78508] OMIM:604060 OMIM:605818 Gene [OrphaNum:124035 ; Name:Otoferlin ; Symbol:OTOF ; xref: GENATLAS:OTOF ; xref: HGNC:8515 ; xref: OMIM:603681 ; xref: UNIPROTKB/SWISSPROT:Q9HC10 ; xref: ENSEMBL:ENSG00000115155] Gene [OrphaNum:120015 ; Name:Tectorin alpha ; Symbol:TECTA ; xref: GENATLAS:TECTA ; xref: HGNC:11720 ; xref: OMIM:602574 ; xref: UNIPROTKB/SWISSPROT:O75443 ; xref: ENSEMBL:ENSG00000109927] OMIM:609941 OMIM:603010 Gene [OrphaNum:166812 ; Name:Claudin 14 ; Symbol:CLDN14 ; xref: GENATLAS:CLDN14 ; xref: HGNC:2035 ; xref: OMIM:605608 ; xref: UNIPROTKB/SWISSPROT:O95500 ; xref: REACTOME:O95500 ; xref: ENSEMBL:ENSG00000159261] OMIM:605316 Gene [OrphaNum:122102 ; Name:Gap junction protein, alpha 1, 43kDa ; Symbol:GJA1 ; xref: GENATLAS:GJA1 ; xref: HGNC:4274 ; xref: OMIM:121014 ; xref: UNIPROTKB/SWISSPROT:P17302 ; xref: REACTOME:P17302 ; xref: ENSEMBL:ENSG00000152661] OMIM:609952 OMIM:601869 OMIM:610248 OMIM:613285 OMIM:607101 Gene [OrphaNum:122129 ; Name:Gap junction protein, beta 2, 26kDa ; Symbol:GJB2 ; xref: GENATLAS:GJB2 ; xref: HGNC:4284 ; xref: OMIM:121011 ; xref: UNIPROTKB/SWISSPROT:P29033 ; xref: ENSEMBL:ENSG00000165474 ; xref: REACTOME:P29033] OMIM:607821 OMIM:613079 Gene [OrphaNum:227397 ; Name:Protein tyrosine phosphatase, receptor type, Q ; Symbol:PTPRQ ; xref: GENATLAS:PTPRQ ; xref: HGNC:9679 ; xref: UNIPROTKB/SWISSPROT:Q9UMZ3 ; xref: OMIM:603317 ; xref: ENSEMBL:ENSG00000139304] OMIM:220290 OMIM:603720 OMIM:601071 OMIM:601072 OMIM:612433 Gene [OrphaNum:258532 ; Name:Methionine sulfoxide reductase B3 ; Symbol:MSRB3 ; xref: ENSEMBL:ENSG00000174099 ; xref: OMIM:613719 ; xref: HGNC:27375 ; xref: UNIPROTKB/SWISSPROT:Q8IXL7 ; xref: GENATLAS:MSRB3] OMIM:220700 Autosomal recessive isolated neurosensory deafness type DFNB Gene [OrphaNum:159414 ; Name:Lipoma HMGIC fusion partner-like 5 ; Symbol:LHFPL5 ; xref: ENSEMBL:ENSG00000197753 ; xref: GENATLAS:LHFPL5 ; xref: HGNC:21253 ; xref: OMIM:609427 ; xref: UNIPROTKB/SWISSPROT:Q8TAF8] OMIM:220900 OMIM:613307 Gene [OrphaNum:201589 ; Name:Hepatocyte growth factor (hepapoietin A; scatter factor) ; Symbol:HGF ; xref: REACTOME:P14210 ; xref: ENSEMBL:ENSG00000019991 ; xref: GENATLAS:HGF ; xref: HGNC:4893 ; xref: OMIM:142409 ; xref: UNIPROTKB/SWISSPROT:P14210] OMIM:614129 Autosomal recessive nonsyndromic neurosensory deafness type DFNB Gene [OrphaNum:119089 ; Name:Bartter syndrome, infantile, with sensorineural deafness (Barttin) ; Symbol:BSND ; xref: GENATLAS:BSND ; xref: HGNC:16512 ; xref: OMIM:606412 ; xref: UNIPROTKB/SWISSPROT:Q8WZ55 ; xref: ENSEMBL:ENSG00000162399] Gene [OrphaNum:123653 ; Name:Myosin VIIA ; Symbol:MYO7A ; xref: GENATLAS:MYO7A ; xref: HGNC:7606 ; xref: OMIM:276903 ; xref: UNIPROTKB/SWISSPROT:Q13402 ; xref: ENSEMBL:ENSG00000137474] Gene [OrphaNum:159272 ; Name:Deafness, autosomal recessive 24 ; Symbol:RDX ; xref: ENSEMBL:ENSG00000137710 ; xref: REACTOME:P35241 ; xref: GENATLAS:RDX ; xref: HGNC:9944 ; xref: OMIM:179410 ; xref: UNIPROTKB/SWISSPROT:P35241] Gene [OrphaNum:120148 ; Name:Transmembrane protease, serine 3 ; Symbol:TMPRSS3 ; xref: GENATLAS:TMPRSS3 ; xref: HGNC:11877 ; xref: OMIM:605511 ; xref: UNIPROTKB/SWISSPROT:P57727 ; xref: ENSEMBL:ENSG00000160183] Gene [OrphaNum:160313 ; Name:Myosin IIIA ; Symbol:MYO3A ; xref: GENATLAS:MYO3A ; xref: HGNC:7601 ; xref: OMIM:606808 ; xref: UNIPROTKB/SWISSPROT:Q8NEV4 ; xref: ENSEMBL:ENSG00000095777] OMIM:613453 OMIM:600971 OMIM:600974 OMIM:610220 Autosomal recessive isolated sensorineural deafness type DFNB OMIM:609439 OMIM:612789 OMIM:611451 OMIM:608264 Gene [OrphaNum:159178 ; Name:Stereocilin ; Symbol:STRC ; xref: HGNC:16035 ; xref: OMIM:606440 ; xref: UNIPROTKB/SWISSPROT:Q7RTU9 ; xref: GENATLAS:STRC ; xref: ENSEMBL:ENSG00000242866] Gene [OrphaNum:160337 ; Name:Solute carrier family 26, member 5 (prestin) ; Symbol:SLC26A5 ; xref: GENATLAS:SLC26A5 ; xref: OMIM:604943 ; xref: HGNC:9359 ; xref: UNIPROTKB/SWISSPROT:P58743 ; xref: ENSEMBL:ENSG00000170615] OMIM:600316 OMIM:608265 OMIM:608653 Gene [OrphaNum:122142 ; Name:Gap junction protein, beta 6 ; Symbol:GJB6 ; xref: GENATLAS:GJB6 ; xref: HGNC:4288 ; xref: OMIM:604418 ; xref: UNIPROTKB/SWISSPROT:O95452 ; xref: ENSEMBL:ENSG00000121742 ; xref: REACTOME:O95452] OMIM:600060 OMIM:603678 OMIM:613391 OMIM:600792 OMIM:614035 OMIM:600791 OMIM:613392 Gene [OrphaNum:124119 ; Name:Protocadherin 15 ; Symbol:PCDH15 ; xref: GENATLAS:PCDH15 ; xref: HGNC:14674 ; xref: OMIM:605514 ; xref: UNIPROTKB/SWISSPROT:Q96QU1 ; xref: ENSEMBL:ENSG00000150275] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636 OMIM:609646 OMIM:609647 OMIM:609706 OMIM:607084 Gene [OrphaNum:119281 ; Name:Cadherin-like 23 ; Symbol:CDH23 ; xref: GENATLAS:CDH23 ; xref: HGNC:13733 ; xref: OMIM:605516 ; xref: UNIPROTKB/SWISSPROT:Q9H251 ; xref: ENSEMBL:ENSG00000107736] Gene [OrphaNum:160288 ; Name:MARVEL domain containing 2 ; Symbol:MARVELD2 ; xref: GENATLAS:MARVELD2 ; xref: HGNC:26401 ; xref: OMIM:610572 ; xref: UNIPROTKB/SWISSPROT:Q8N4S9 ; xref: ENSEMBL:ENSG00000152939] EXACT Autosomal recessive nonsyndromic neurosensory deafness type DFNB EXACT Autosomal recessive isolated sensorineural deafness type DFNB EXACT Autosomal recessive isolated neurosensory deafness type DFNB Mitochondrial nonsyndromic sensorineural deafness Isolated mitochondrial neurosensory deafness Isolated mitochondrial sensorineural deafness Mitochondrial nonsyndromic neurosensory deafness Gene [OrphaNum:138902 ; Name:Mitochondrially encoded 12S RNA ; Symbol:MT-RNR1 ; xref: GENATLAS:MT-RNR1 ; xref: HGNC:7470 ; xref: OMIM:561000] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Isolated mitochondrial neurosensory deafness Gene [OrphaNum:166766 ; Name:Mitochondrially encoded tRNA histidine ; Symbol:MT-TH ; xref: GENATLAS:MT-TH ; xref: HGNC:7487 ; xref: OMIM:590040] Isolated mitochondrial sensorineural deafness OMIM:221745 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 Gene [OrphaNum:120032 ; Name:Transcription factor B1, mitochondrial ; Symbol:TFB1M ; xref: GENATLAS:TFB1M ; xref: HGNC:17037 ; xref: OMIM:607033 ; xref: UNIPROTKB/SWISSPROT:Q8WVM0 ; xref: ENSEMBL:ENSG00000029639] Gene [OrphaNum:120293 ; Name:TRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ; Symbol:TRMU ; xref: UNIPROTKB/SWISSPROT:O75648 ; xref: GENATLAS:TRMU ; xref: HGNC:25481 ; xref: OMIM:610230 ; xref: ENSEMBL:ENSG00000100416] Gene [OrphaNum:123512 ; Name:Mitochondrially encoded cytochrome c oxidase I ; Symbol:MT-CO1 ; xref: ENSEMBL:ENSG00000198804 ; xref: REACTOME:P00395 ; xref: GENATLAS:MT-CO1 ; xref: HGNC:7419 ; xref: OMIM:516030 ; xref: UNIPROTKB/SWISSPROT:P00395] OMIM:500008 Orphanet ID- 12050 Mitochondrial nonsyndromic neurosensory deafness Gene [OrphaNum:167901 ; Name:Mitochondrially encoded tRNA serine 1 (UCN) ; Symbol:MT-TS1 ; xref: GENATLAS:MT-TS1 ; xref: HGNC:7497 ; xref: OMIM:590080] EXACT Mitochondrial nonsyndromic neurosensory deafness EXACT Isolated mitochondrial sensorineural deafness EXACT Isolated mitochondrial neurosensory deafness Syndromic genetic deafness Orphanet ID- 12051 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Deafness - hypogonadism prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646 OMIM:304350 Orphanet ID- 12055 Jervell and Lange-Nielsen syndrome Long QT interval - deafness Long QT interval - deafness prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122800 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 1 ; Symbol:KCNQ1 ; xref: GENATLAS:KCNQ1 ; xref: HGNC:6294 ; xref: OMIM:607542 ; xref: UNIPROTKB/SWISSPROT:P51787 ; xref: REACTOME:P51787 ; xref: IUPHAR:560 ; xref: ENSEMBL:ENSG00000053918] Gene [OrphaNum:122763 ; Name:Potassium voltage-gated channel, Isk-related family, member 1 ; Symbol:KCNE1 ; xref: GENATLAS:KCNE1 ; xref: HGNC:6240 ; xref: OMIM:176261 ; xref: UNIPROTKB/SWISSPROT:P15382 ; xref: ENSEMBL:ENSG00000180509] Orphanet ID- 12056 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 OMIM:612347 OMIM:220400 EXACT Long QT interval - deafness Oral-facial-digital syndrome type 7 OFD7 Orofaciodigital syndrome type 7 Whelan syndrome Orphanet ID- 12058 Whelan syndrome Orofaciodigital syndrome type 7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:608518 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90649 OFD7 EXACT OFD7 EXACT Whelan syndrome EXACT Orofaciodigital syndrome type 7 Otopalatodigital syndrome type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] Orphanet ID- 12059 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant; OMIM:311300 ICD10:Q87.0 Griscelli disease Chediak-Higashi like syndrome Partial albinism - immunodeficiency Partial albinism - immunodeficiency Chediak-Higashi like syndrome ICD10:L81.6 Orphanet ID- 1206 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 EXACT Partial albinism - immunodeficiency EXACT Chediak-Higashi like syndrome Otopalatodigital syndrome type 2 Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] ICD10:Q87.0 Orphanet ID- 12060 OMIM:304120 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 Stickler syndrome type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 ICD10:Q87.5 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] OMIM:609508 OMIM:108300 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12061 ICD10:Q15.8 Stickler syndrome type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12062 ICD10:Q15.8 OMIM:604841 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 Gene [OrphaNum:120690 ; Name:Collagen, type XI, alpha 1 ; Symbol:COL11A1 ; xref: GENATLAS:COL11A1 ; xref: HGNC:2186 ; xref: OMIM:120280 ; xref: UNIPROTKB/SWISSPROT:P12107 ; xref: ENSEMBL:ENSG00000060718] ICD10:Q87.5 Charcot-Marie-Tooth disease type 1E CMT1E Charcot-Marie-Tooth disease - deafness prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; OMIM:118300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 Gene [OrphaNum:117908 ; Name:Peripheral myelin protein 22 ; Symbol:PMP22 ; xref: GENATLAS:PMP22 ; xref: HGNC:9118 ; xref: OMIM:601097 ; xref: UNIPROTKB/SWISSPROT:Q01453 ; xref: ENSEMBL:ENSG00000109099] Orphanet ID- 12066 ICD10:G60.0 CMT1E Charcot-Marie-Tooth disease - deafness EXACT CMT1E EXACT Charcot-Marie-Tooth disease - deafness Hypothyroidism due to TSH receptor mutations OMIM:275200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 12074 ICD10:E03.1 Gene [OrphaNum:120320 ; Name:Thyroid stimulating hormone receptor ; Symbol:TSHR ; xref: GENATLAS:TSHR ; xref: HGNC:12373 ; xref: OMIM:603372 ; xref: UNIPROTKB/SWISSPROT:P16473 ; xref: IUPHAR:255 ; xref: ENSEMBL:ENSG00000165409 ; xref: REACTOME:P16473] Isolated thyroid-stimulating hormone deficiency Isolated TSH deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 OMIM:275100 Isolated TSH deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 12075 ICD10:E03.1 Gene [OrphaNum:166731 ; Name:Thyroid stimulating hormone, beta ; Symbol:TSHB ; xref: GENATLAS:TSHB ; xref: HGNC:12372 ; xref: OMIM:188540 ; xref: UNIPROTKB/SWISSPROT:P01222 ; xref: ENSEMBL:ENSG00000134200 ; xref: REACTOME:P01222] EXACT Isolated TSH deficiency Panhypopituitarism Panhypopituitarism, Postpartum Postpartum Panhypopituitarism Orphanet ID- 12081 Gene [OrphaNum:118051 ; Name:PROP paired-like homeobox 1 ; Symbol:PROP1 ; xref: GENATLAS:PROP1 ; xref: HGNC:9455 ; xref: OMIM:601538 ; xref: UNIPROTKB/SWISSPROT:O75360 ; xref: ENSEMBL:ENSG00000175325] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 OMIM:262600 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:138386 ; Name:SRY (sex determining region Y)-box 3 ; Symbol:SOX3 ; xref: GENATLAS:SOX3 ; xref: HGNC:11199 ; xref: OMIM:313430 ; xref: UNIPROTKB/SWISSPROT:P41225 ; xref: ENSEMBL:ENSG00000134595] ICD10:E23.0 OMIM:312000 46,XX Disorder of sex development induced by androgens of fetal origin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776 Orphanet ID- 12087 Familial visceral myopathy Megaduodenum and/or megacystis ICD10:G71.2 ICD10:K56.0 Megaduodenum and/or megacystis prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:155310 Orphanet ID- 1209 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 EXACT Megaduodenum and/or megacystis Congenital lipoid adrenal hyperplasia STAR deficiency STAR deficiency Gene [OrphaNum:119876 ; Name:Steroidogenic acute regulatory protein ; Symbol:STAR ; xref: GENATLAS:STAR ; xref: HGNC:11359 ; xref: OMIM:600617 ; xref: UNIPROTKB/SWISSPROT:P49675 ; xref: ENSEMBL:ENSG00000147465 ; xref: REACTOME:P49675] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E25.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 Orphanet ID- 12094 OMIM:201710 EXACT STAR deficiency Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 Orphanet ID- 12095 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E25.0 OMIM:201810 Gene [OrphaNum:122515 ; Name:Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ; Symbol:HSD3B2 ; xref: GENATLAS:HSD3B2 ; xref: HGNC:5218 ; xref: UNIPROTKB/SWISSPROT:P26439 ; xref: OMIM:613890 ; xref: REACTOME:P26439 ; xref: ENSEMBL:ENSG00000203859] Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ICD10:E25.0 Gene [OrphaNum:120963 ; Name:Cytochrome P450, family 17, subfamily A, polypeptide 1 ; Symbol:CYP17A1 ; xref: GENATLAS:CYP17A1 ; xref: HGNC:2593 ; xref: OMIM:609300 ; xref: UNIPROTKB/SWISSPROT:P05093 ; xref: REACTOME:P05093 ; xref: ENSEMBL:ENSG00000148795] OMIM:202110 Orphanet ID- 12096 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form Gene [OrphaNum:120981 ; Name:Cytochrome P450, family 21, subfamily A, polypeptide 2 ; Symbol:CYP21A2 ; xref: GENATLAS:CYP21A2 ; xref: HGNC:2600 ; xref: UNIPROTKB/SWISSPROT:P08686 ; xref: OMIM:613815 ; xref: ENSEMBL:ENSG00000231852 ; xref: REACTOME:P08686] ICD10:E25.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 OMIM:201910 Orphanet ID- 12097 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 Gene [OrphaNum:120949 ; Name:Cytochrome P450, family 11, subfamily B, polypeptide 1 ; Symbol:CYP11B1 ; xref: OMIM:610613 ; xref: UNIPROTKB/SWISSPROT:P15538 ; xref: GENATLAS:CYP11B1 ; xref: HGNC:2591 ; xref: ENSEMBL:ENSG00000160882 ; xref: REACTOME:P15538] Orphanet ID- 12098 OMIM:202010 ICD10:E25.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency Gene [OrphaNum:292259 ; Name:Aldo-keto reductase family 1, member C4 ; Symbol:AKR1C4 ; xref: GENATLAS:AKR1C4 ; xref: UNIPROTKB/SWISSPROT:P17516 ; xref: HGNC:387 ; xref: OMIM:600451] Orphanet ID- 12099 Gene [OrphaNum:120963 ; Name:Cytochrome P450, family 17, subfamily A, polypeptide 1 ; Symbol:CYP17A1 ; xref: GENATLAS:CYP17A1 ; xref: HGNC:2593 ; xref: OMIM:609300 ; xref: UNIPROTKB/SWISSPROT:P05093 ; xref: REACTOME:P05093 ; xref: ENSEMBL:ENSG00000148795] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614279 ICD10:Q56.1 Gene [OrphaNum:292247 ; Name:Aldo-keto reductase family 1, member C2 ; Symbol:AKR1C2 ; xref: HGNC:385 ; xref: OMIM:600450 ; xref: UNIPROTKB/SWISSPROT:P52895 ; xref: GENATLAS:AKR1C2] Gene [OrphaNum:120929 ; Name:Cytochrome b5 type A (microsomal) ; Symbol:CYB5A ; xref: GENATLAS:CYB5A ; xref: HGNC:2570 ; xref: OMIM:613218 ; xref: UNIPROTKB/SWISSPROT:P00167 ; xref: REACTOME:P00167 ; xref: ENSEMBL:ENSG00000166347] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 Multiple endocrine neoplasia type 1 MEN 1 Wermer syndrome Gene [OrphaNum:123196 ; Name:Multiple endocrine neoplasia I ; Symbol:MEN1 ; xref: GENATLAS:MEN1 ; xref: HGNC:7010 ; xref: OMIM:613733 ; xref: UNIPROTKB/SWISSPROT:O00255 ; xref: ENSEMBL:ENSG00000133895] Wermer syndrome Gene [OrphaNum:293303 ; Name:Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) ; Symbol:CDKN2B ; xref: HGNC:1788 ; xref: GENATLAS:CDKN2B ; xref: OMIM:600431 ; xref: UNIPROTKB/SWISSPROT:P42772] Orphanet ID- 121 OMIM:131100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 ICD10:D44.8 MEN 1 OMIM:610755 Gene [OrphaNum:293311 ; Name:Cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) ; Symbol:CDKN2C ; xref: HGNC:1789 ; xref: OMIM:603369 ; xref: GENATLAS:CDKN2C ; xref: UNIPROTKB/SWISSPROT:P42773] prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:293293 ; Name:Cyclin-dependent kinase inhibitor 1A (p21, Cip1) ; Symbol:CDKN1A ; xref: HGNC:1784 ; xref: OMIM:116899 ; xref: GENATLAS:CDKN1A ; xref: UNIPROTKB/SWISSPROT:P38936] Gene [OrphaNum:200995 ; Name:Cyclin-dependent kinase inhibitor 1B (p27, Kip1) ; Symbol:CDKN1B ; xref: REACTOME:P46527 ; xref: ENSEMBL:ENSG00000111276 ; xref: GENATLAS:CDKN1B ; xref: HGNC:1785 ; xref: OMIM:600778 ; xref: UNIPROTKB/SWISSPROT:P46527] EXACT Wermer syndrome EXACT MEN 1 Partial androgen insensitivity syndrome PAIS Partial androgen resistance syndrome ICD10:E34.5 OMIM:312300 PAIS prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 Orphanet ID- 12100 Partial androgen resistance syndrome Gene [OrphaNum:132285 ; Name:Androgen receptor ; Symbol:AR ; xref: GENATLAS:AR ; xref: HGNC:644 ; xref: OMIM:313700 ; xref: UNIPROTKB/SWISSPROT:P10275 ; xref: IUPHAR:628 ; xref: ENSEMBL:ENSG00000169083 ; xref: REACTOME:P10275] EXACT Partial androgen resistance syndrome EXACT PAIS Primary lipodystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12101 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90970 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 AR-CMT2 Autosomal recessive axonal Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease, axonal, autosomal recessive type 4C Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91024 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G60.0 AR-CMT2 Charcot-Marie-Tooth disease, axonal, autosomal recessive type 4C Autosomal recessive axonal Charcot-Marie-Tooth disease type 4C Orphanet ID- 12102 EXACT Charcot-Marie-Tooth disease, axonal, autosomal recessive type 4C EXACT AR-CMT2 EXACT Autosomal recessive axonal Charcot-Marie-Tooth disease type 4C Other metabolic disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12103 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088 Cardiomyopathy - hypotonia - lactic acidosis Orphanet ID- 12107 Gene [OrphaNum:158407 ; Name:Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 ; Symbol:SLC25A3 ; xref: GENATLAS:SLC25A3 ; xref: HGNC:10989 ; xref: OMIM:600370 ; xref: UNIPROTKB/SWISSPROT:Q00325 ; xref: ENSEMBL:ENSG00000075415] OMIM:610773 ICD10:G71.3 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 CDG syndrome type Im CDG syndrome type 1M CDG1M Carbohydrate deficient glycoprotein syndrome type Im Congenital disorder of glycosylation type 1m Congenital disorder of glycosylation type Im Hypotonia and ichthyosis due to dolichol phosphate deficiency Gene [OrphaNum:123375 ; Name:Dolichol kinase ; Symbol:DOLK ; xref: GENATLAS:DOLK ; xref: HGNC:23406 ; xref: OMIM:610746 ; xref: UNIPROTKB/SWISSPROT:Q9UPQ8 ; xref: ENSEMBL:ENSG00000175283 ; xref: REACTOME:Q9UPQ8] ICD10:E77.8 Congenital disorder of glycosylation type 1m Congenital disorder of glycosylation type Im CDG syndrome type 1M Carbohydrate deficient glycoprotein syndrome type Im prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 Hypotonia and ichthyosis due to dolichol phosphate deficiency CDG1M OMIM:610768 Orphanet ID- 12108 EXACT Congenital disorder of glycosylation type Im EXACT CDG syndrome type 1M EXACT Hypotonia and ichthyosis due to dolichol phosphate deficiency EXACT CDG1M EXACT Carbohydrate deficient glycoprotein syndrome type Im EXACT Congenital disorder of glycosylation type 1m Ichthyosis hypotrichosis syndrome Hypotrichosis - congenital ichthyosis Hypotrichosis - congenital ichthyosis OMIM:610765 Orphanet ID- 12109 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:179413 ; Name:Suppression of tumorigenicity 14 (colon carcinoma) ; Symbol:ST14 ; xref: GENATLAS:ST14 ; xref: HGNC:11344 ; xref: OMIM:606797 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y6 ; xref: ENSEMBL:ENSG00000149418] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 ICD10:Q80.9 EXACT Hypotrichosis - congenital ichthyosis Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q87.5 Orphanet ID- 12110 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91133 Osteogenesis imperfecta - shortened long bones - white sclerae OMIM:610915 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91134 Orphanet ID- 12111 ICD10:Q78.0 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency PXE-like syndrome Pseudoxanthoma elasticum-like syndrome Pseudoxanthoma elasticum-like syndrome PXE-like syndrome Gene [OrphaNum:122083 ; Name:Gamma-glutamyl carboxylase ; Symbol:GGCX ; xref: GENATLAS:GGCX ; xref: HGNC:4247 ; xref: OMIM:137167 ; xref: UNIPROTKB/SWISSPROT:P38435 ; xref: ENSEMBL:ENSG00000115486 ; xref: REACTOME:P38435] OMIM:610842 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:D68.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135 Orphanet ID- 12112 EXACT Pseudoxanthoma elasticum-like syndrome EXACT PXE-like syndrome Monoclonal Ig light chain-associated Fanconi syndrome Kappa light chain-associated Fanconi syndrome Monoclonal kappa Ig light chain-associated Fanconi syndrome Myeloma-associated Fanconi syndrome Orphanet ID- 12113 Myeloma-associated Fanconi syndrome ICD10:D47.2 Kappa light chain-associated Fanconi syndrome Monoclonal kappa Ig light chain-associated Fanconi syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91136 EXACT Kappa light chain-associated Fanconi syndrome EXACT Monoclonal kappa Ig light chain-associated Fanconi syndrome EXACT Myeloma-associated Fanconi syndrome Thyrotroph adenoma Pituitary thyrotrophic adenoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pituitary thyrotrophic adenoma Orphanet ID- 12121 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91347 ICD10:D35.2 EXACT Pituitary thyrotrophic adenoma Gonadotroph adenoma Pituitary gonadotrophic adenoma ICD10:D35.2 Pituitary gonadotrophic adenoma Orphanet ID- 12122 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91348 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Pituitary gonadotrophic adenoma Non-secreting pituitary adenoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91349 ICD10:D35.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12123 Pituitary deficiency due to Rathke's pouch cysts Orphanet ID- 12124 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91350 Pituitary dermoid and epidermoid cysts Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91351 Orphanet ID- 12125 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:131600 Germinoma of the central nervous system Intracranial germinoma Intracranial germinoma prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 12126 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91352 EXACT Intracranial germinoma Choristoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12127 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91353 Pituitary deficiency due to empty sella turcica syndrome Hypopituitarism due to empty sella turcica syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypopituitarism due to empty sella turcica syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91354 Orphanet ID- 12128 EXACT Hypopituitarism due to empty sella turcica syndrome Sheehan syndrome Sheehan Syndrome Sheehan's Syndrome Sheehans Syndrome Syndrome, Sheehan Syndrome, Sheehan's ICD10:E23.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91355 Orphanet ID- 12129 Mitochondrial myopathy and sideroblastic anemia MLASA MSA Myopathy, lactic acidosis and sideroblastic anemia Gene [OrphaNum:240658 ; Name:Tyrosyl-tRNA synthetase 2, mitochondrial ; Symbol:YARS2 ; xref: OMIM:610957 ; xref: UNIPROTKB/SWISSPROT:Q9Y2Z4 ; xref: GENATLAS:YARS2 ; xref: HGNC:24249 ; xref: ENSEMBL:ENSG00000139131 ; xref: REACTOME:Q9Y2Z4] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 Orphanet ID- 1213 Gene [OrphaNum:118160 ; Name:Pseudouridylate synthase 1 ; Symbol:PUS1 ; xref: GENATLAS:PUS1 ; xref: HGNC:15508 ; xref: OMIM:608109 ; xref: UNIPROTKB/SWISSPROT:Q9Y606 ; xref: ENSEMBL:ENSG00000177192] ICD10:G71.3 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; MLASA OMIM:613561 OMIM:600462 Myopathy, lactic acidosis and sideroblastic anemia MSA EXACT MLASA EXACT Myopathy, lactic acidosis and sideroblastic anemia EXACT MSA Duplication of the esophagus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12131 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91357 ICD10:Q39.8 Congenital esophageal diverticulum prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358 ICD10:Q39.6 Orphanet ID- 12132 Hereditary angioedema Familial angioneurotic edema HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; HAE Hereditary non histamine-induced angioedema Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91378 Familial angioneurotic edema Hereditary bradykinine-induced angioedema ICD10:D84.1 Hereditary angioneurotic edema Orphanet ID- 12136 EXACT HAE EXACT Hereditary non histamine-induced angioedema EXACT Hereditary angioneurotic edema EXACT Hereditary bradykinine-induced angioedema EXACT Familial angioneurotic edema Familial thoracic aortic aneurysm Familial thoracic aortic aneurysm and dissection OMIM:611788 OMIM:608967 Gene [OrphaNum:120065 ; Name:Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ; Symbol:TGFBR1 ; xref: GENATLAS:TGFBR1 ; xref: HGNC:11772 ; xref: OMIM:190181 ; xref: UNIPROTKB/SWISSPROT:P36897 ; xref: REACTOME:P36897 ; xref: ENSEMBL:ENSG00000106799] Gene [OrphaNum:246653 ; Name:Myosin light chain kinase ; Symbol:MYLK ; xref: ENSEMBL:ENSG00000065534 ; xref: GENATLAS:MYLK ; xref: HGNC:7590 ; xref: OMIM:600922 ; xref: UNIPROTKB/SWISSPROT:Q15746 ; xref: REACTOME:Q15746] Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91387 Familial thoracic aortic aneurysm and dissection OMIM:132900 OMIM:607087 Gene [OrphaNum:138831 ; Name:Actin, alpha 2, smooth muscle, aorta ; Symbol:ACTA2 ; xref: GENATLAS:ACTA2 ; xref: HGNC:130 ; xref: OMIM:102620 ; xref: UNIPROTKB/SWISSPROT:P62736 ; xref: REACTOME:P62736 ; xref: ENSEMBL:ENSG00000107796] OMIM:607086 Gene [OrphaNum:123606 ; Name:Myosin, heavy chain 11, smooth muscle ; Symbol:MYH11 ; xref: GENATLAS:MYH11 ; xref: HGNC:7569 ; xref: OMIM:160745 ; xref: UNIPROTKB/SWISSPROT:P35749 ; xref: REACTOME:P35749 ; xref: ENSEMBL:ENSG00000133392] Gene [OrphaNum:120069 ; Name:Transforming growth factor, beta receptor II (70/80kDa) ; Symbol:TGFBR2 ; xref: GENATLAS:TGFBR2 ; xref: HGNC:11773 ; xref: OMIM:190182 ; xref: UNIPROTKB/SWISSPROT:P37173 ; xref: ENSEMBL:ENSG00000163513 ; xref: REACTOME:P37173] ICD10:I71.2 Orphanet ID- 12138 OMIM:613780 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Familial thoracic aortic aneurysm and dissection Isolated cryptophthalmia Orphanet ID- 12139 OMIM:123570 ICD10:Q11.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396 Isolated ankyloblepharon filiforme adnatum Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 Orphanet ID- 12140 ICD10:Q10.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Congenital ptosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 Orphanet ID- 12141 OMIM:178300 OMIM:300245 ICD10:Q10.0 Marcus-Gunn syndrome Jaw-Winking syndrome Mandibulo-palpebral synkinesis - ptosis Marcus-Gunn phenomenon Orphanet ID- 12142 ICD10:Q07.8 Mandibulo-palpebral synkinesis - ptosis Jaw-Winking syndrome OMIM:154600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Marcus-Gunn phenomenon EXACT Jaw-Winking syndrome EXACT Marcus-Gunn phenomenon EXACT Mandibulo-palpebral synkinesis - ptosis Congenital Horner syndrome Congenital Claude-Bernard-Horner syndrome ICD10:G90.2 OMIM:143000 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital Claude-Bernard-Horner syndrome Orphanet ID- 12143 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413 EXACT Congenital Claude-Bernard-Horner syndrome Familial capillary hemangioma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91415 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:602089 Orphanet ID- 12145 ICD10:D18.0 Gene [OrphaNum:229801 ; Name:Kinase insert domain receptor (a type III receptor tyrosine kinase) ; Symbol:KDR ; xref: ENSEMBL:ENSG00000128052 ; xref: REACTOME:P35968 ; xref: HGNC:6307 ; xref: GENATLAS:KDR ; xref: OMIM:191306 ; xref: UNIPROTKB/SWISSPROT:P35968] Isolated congenital alacrima OMIM:601549 ICD10:Q10.6 OMIM:103420 Orphanet ID- 12146 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Rieger's anomaly Axenfeld-Rieger's anomaly Orphanet ID- 12148 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 OMIM:137600 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:117832 ; Name:Paired-like homeodomain 2 ; Symbol:PITX2 ; xref: GENATLAS:PITX2 ; xref: HGNC:9005 ; xref: OMIM:601542 ; xref: UNIPROTKB/SWISSPROT:Q99697 ; xref: ENSEMBL:ENSG00000164093] ICD10:Q13.8 OMIM:601631 Gene [OrphaNum:121883 ; Name:Forkhead box C1 ; Symbol:FOXC1 ; xref: ENSEMBL:ENSG00000054598 ; xref: GENATLAS:FOXC1 ; xref: HGNC:3800 ; xref: OMIM:601090 ; xref: UNIPROTKB/SWISSPROT:Q12948] OMIM:602482 Axenfeld-Rieger's anomaly EXACT Axenfeld-Rieger's anomaly Isolated congenital megalocornea Congenital anterior megalophthalmia ICD10:Q15.8 OMIM:309300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12149 Congenital anterior megalophthalmia Gene [OrphaNum:292376 ; Name:Chordin-like 1 ; Symbol:CHRDL1 ; xref: HGNC:29861 ; xref: OMIM:300350 ; xref: GENATLAS:CHRDL1 ; xref: UNIPROTKB/SWISSPROT:Q9BU40] OMIM:249300 EXACT Congenital anterior megalophthalmia Carnitine palmitoyl transferase 1A deficiency CPT-1A deficiency Carnitine palmitoyl transferase IA deficiency Hepatic carnitine palmitoyl transferase 1 deficiency Hepatic carnitine palmitoyl transferase I deficiency L-CPT1 deficiency L-CPTI deficiency Hepatic carnitine palmitoyl transferase I deficiency OMIM:255120 L-CPTI deficiency Orphanet ID- 1215 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 ICD10:E71.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; CPT-1A deficiency Gene [OrphaNum:120790 ; Name:Carnitine palmitoyltransferase 1A (liver) ; Symbol:CPT1A ; xref: GENATLAS:CPT1A ; xref: HGNC:2328 ; xref: OMIM:600528 ; xref: UNIPROTKB/SWISSPROT:P50416 ; xref: ENSEMBL:ENSG00000110090 ; xref: REACTOME:P50416] Hepatic carnitine palmitoyl transferase 1 deficiency Carnitine palmitoyl transferase IA deficiency L-CPT1 deficiency EXACT Carnitine palmitoyl transferase IA deficiency EXACT Hepatic carnitine palmitoyl transferase 1 deficiency EXACT CPT-1A deficiency EXACT Hepatic carnitine palmitoyl transferase I deficiency EXACT L-CPT1 deficiency EXACT L-CPTI deficiency Isolated congenital sclerocornea OMIM:269400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490 OMIM:181700 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q13.3 Orphanet ID- 12150 Congenital ectropion uveae Orphanet ID- 12151 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491 ICD10:Q10.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Non-syndromic congenital cataract Orphanet ID- 12152 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492 Macular coloboma - cleft palate - hallux valgus OMIM:216800 ICD10:Q87.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 Orphanet ID- 12153 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Persistent hyperplastic primary vitreous PFVS PHPV Persistent fetal vasculature syndrome Persistent fetal vasculature syndrome OMIM:611311 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:611308 PHPV ICD10:Q15.8 Orphanet ID- 12154 PFVS Gene [OrphaNum:121977 ; Name:Frizzled homolog 4 (Drosophila) ; Symbol:FZD4 ; xref: GENATLAS:FZD4 ; xref: HGNC:4042 ; xref: OMIM:604579 ; xref: UNIPROTKB/SWISSPROT:Q9ULV1 ; xref: ENSEMBL:ENSG00000174804 ; xref: IUPHAR:232 ; xref: REACTOME:Q9ULV1] Gene [OrphaNum:123713 ; Name:Norrie disease (pseudoglioma) ; Symbol:NDP ; xref: ENSEMBL:ENSG00000124479 ; xref: GENATLAS:NDP ; xref: HGNC:7678 ; xref: OMIM:310600 ; xref: UNIPROTKB/SWISSPROT:Q00604] EXACT PFVS EXACT Persistent fetal vasculature syndrome EXACT PHPV Snowflake vitreoretinal degeneration OMIM:193230 ICD10:H35.5 Gene [OrphaNum:159740 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 13 ; Symbol:KCNJ13 ; xref: GENATLAS:KCNJ13 ; xref: HGNC:6259 ; xref: OMIM:603208 ; xref: UNIPROTKB/SWISSPROT:O60928 ; xref: IUPHAR:443 ; xref: ENSEMBL:ENSG00000115474] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 Orphanet ID- 12155 Familial congenital palsy of trochlear nerve Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498 OMIM:136480 ICD10:H49.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12157 Gene [OrphaNum:160296 ; Name:KN motif and ankyrin repeat domains 1 ; Symbol:KANK1 ; xref: GENATLAS:KANK1 ; xref: HGNC:19309 ; xref: OMIM:607704 ; xref: UNIPROTKB/SWISSPROT:Q14678 ; xref: ENSEMBL:ENSG00000107104] Intestinal epithelial dysplasia Congenital familial intractable diarrhea with epithelial or epithelium abnormalities IED Tufting enteropathy OMIM:613217 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 Gene [OrphaNum:226018 ; Name:Epithelial cell adhesion molecule ; Symbol:EPCAM ; xref: GENATLAS:EPCAM ; xref: HGNC:11529 ; xref: OMIM:185535 ; xref: UNIPROTKB/SWISSPROT:P16422 ; xref: ENSEMBL:ENSG00000119888] IED Tufting enteropathy Orphanet ID- 12162 ICD10:K52.8 Congenital familial intractable diarrhea with epithelial or epithelium abnormalities EXACT Tufting enteropathy EXACT IED EXACT Congenital familial intractable diarrhea with epithelial or epithelium abnormalities Unilateral renal agenesis ICD10:Q60.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12163 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 Renal hypoplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12164 ICD10:Q60.5 Renal dysplasia ICD10:Q61.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12165 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108 Congenital megacalycosis prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Unknown; ICD10:Q63.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109 Orphanet ID- 12166 Posterior urethral valve Orphanet ID- 12167 ICD10:Q64.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Renal cysts and diabetes syndrome MODY5 Maturity-onset diabetes of the young type 5 RCAD syndrome Renal cysts - maturity-onset diabetes of the young Renal dysfunction - early-onset diabetes prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:158588 ; Name:HNF1 homeobox B ; Symbol:HNF1B ; xref: ENSEMBL:ENSG00000108753 ; xref: REACTOME:P35680 ; xref: GENATLAS:HNF1B ; xref: HGNC:11630 ; xref: OMIM:189907 ; xref: UNIPROTKB/SWISSPROT:P35680] Renal dysfunction - early-onset diabetes ICD10:E11.2 MODY5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 Maturity-onset diabetes of the young type 5 OMIM:137920 Orphanet ID- 12168 Renal cysts - maturity-onset diabetes of the young RCAD syndrome EXACT RCAD syndrome EXACT MODY5 EXACT Renal cysts - maturity-onset diabetes of the young EXACT Maturity-onset diabetes of the young type 5 EXACT Renal dysfunction - early-onset diabetes Charcot-Marie-Tooth disease - nephropathy ICD10:G60.0 OMIM:614455 Orphanet ID- 12169 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 Gene [OrphaNum:225380 ; Name:Inverted formin, FH2 and WH2 domain containing ; Symbol:INF2 ; xref: ENSEMBL:ENSG00000203485 ; xref: GENATLAS:INF2 ; xref: HGNC:23791 ; xref: OMIM:610982 ; xref: UNIPROTKB/SWISSPROT:Q27J81] Myopathy - growth delay - intellectual deficit - hypospadias Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2601 ICD10:Q87.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1217 Hypocalcemic vitamin D resistant rickets HVDRR Hereditary vitamin D-resistant rickets VDDR II VDRR II Vitamin D-dependent rickets type II Vitamin D-resistant rickets type II Vitamin D-resistant rickets type II OMIM:277440 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 Vitamin D-dependent rickets type II prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; VDDR II ICD10:E83.3 Gene [OrphaNum:120464 ; Name:Vitamin D (1,25- dihydroxyvitamin D3) receptor ; Symbol:VDR ; xref: GENATLAS:VDR ; xref: HGNC:12679 ; xref: OMIM:601769 ; xref: UNIPROTKB/SWISSPROT:P11473 ; xref: REACTOME:P11473 ; xref: ENSEMBL:ENSG00000111424 ; xref: IUPHAR:605] Orphanet ID- 12173 HVDRR Hereditary vitamin D-resistant rickets VDRR II EXACT Vitamin D-dependent rickets type II EXACT Vitamin D-resistant rickets type II EXACT Hereditary vitamin D-resistant rickets EXACT HVDRR EXACT VDDR II EXACT VDRR II Unilateral renal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q61.4 Orphanet ID- 12177 Bilateral renal dysplasia ICD10:Q61.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 Orphanet ID- 12178 Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] Unilateral congenital megacalycosis ICD10:Q63.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12179 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176 Congenital bilateral megacalycosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q63.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177 Orphanet ID- 12180 Partial prune belly syndrome ICD10:Q79.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12181 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93178 Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93206 Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Orphanet ID- 12187 EXACT Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis Idiopathic steroid-sensitive nephrotic syndrome with minimal change Steroid-sensitive MCNS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93207 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Steroid-sensitive MCNS Orphanet ID- 12188 EXACT Steroid-sensitive MCNS Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Orphanet ID- 12189 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93209 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis OMIM:603278 OMIM:614196 Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] OMIM:610725 Gene [OrphaNum:159233 ; Name:Phospholipase C, epsilon 1 ; Symbol:PLCE1 ; xref: GENATLAS:PLCE1 ; xref: HGNC:17175 ; xref: OMIM:608414 ; xref: UNIPROTKB/SWISSPROT:Q9P212 ; xref: ENSEMBL:ENSG00000138193] OMIM:614131 Gene [OrphaNum:120298 ; Name:Transient receptor potential cation channel, subfamily C, member 6 ; Symbol:TRPC6 ; xref: GENATLAS:TRPC6 ; xref: HGNC:12338 ; xref: OMIM:603652 ; xref: UNIPROTKB/SWISSPROT:Q9Y210 ; xref: REACTOME:Q9Y210 ; xref: IUPHAR:491 ; xref: ENSEMBL:ENSG00000137672] OMIM:603965 OMIM:607832 Gene [OrphaNum:285362 ; Name:Rho GTPase Activating Protein 24 ; Symbol:ARHGAP24 ; xref: GENATLAS:ARHGAP24 ; xref: HGNC:25361 ; xref: UNIPROTKB/SWISSPROT:Q8N264 ; xref: OMIM:610586 ; xref: REACTOME:Q8N264 ; xref: ENSEMBL:ENSG00000138639] Gene [OrphaNum:270424 ; Name:protein tyrosine phosphatase, receptor type, O ; Symbol:PTPRO ; xref: ENSEMBL:ENSG00000151490 ; xref: OMIM:600579 ; xref: GENATLAS:PTPRO ; xref: UNIPROTKB/SWISSPROT:Q16827 ; xref: HGNC:9678] Orphanet ID- 12191 Gene [OrphaNum:123893 ; Name:Nephrosis 2, idiopathic, steroid-resistant (podocin) ; Symbol:NPHS2 ; xref: GENATLAS:NPHS2 ; xref: HGNC:13394 ; xref: OMIM:604766 ; xref: UNIPROTKB/SWISSPROT:Q9NP85 ; xref: ENSEMBL:ENSG00000116218 ; xref: REACTOME:Q9NP85] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93213 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:236656 ; Name:CD2-associated protein ; Symbol:CD2AP ; xref: OMIM:604241 ; xref: ENSEMBL:ENSG00000198087 ; xref: REACTOME:Q9Y5K6 ; xref: HGNC:14258 ; xref: GENATLAS:CD2AP ; xref: UNIPROTKB/SWISSPROT:Q9Y5K6] Gene [OrphaNum:225380 ; Name:Inverted formin, FH2 and WH2 domain containing ; Symbol:INF2 ; xref: ENSEMBL:ENSG00000203485 ; xref: GENATLAS:INF2 ; xref: HGNC:23791 ; xref: OMIM:610982 ; xref: UNIPROTKB/SWISSPROT:Q27J81] Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Gene [OrphaNum:123889 ; Name:Nephrosis 1, congenital, Finnish type (nephrin) ; Symbol:NPHS1 ; xref: GENATLAS:NPHS1 ; xref: HGNC:7908 ; xref: OMIM:602716 ; xref: UNIPROTKB/SWISSPROT:O60500 ; xref: ENSEMBL:ENSG00000161270 ; xref: REACTOME:O60500] Gene [OrphaNum:270032 ; Name:myosin IE ; Symbol:MYO1E ; xref: ENSEMBL:ENSG00000157483 ; xref: GENATLAS:MYO1E ; xref: HGNC:7599 ; xref: OMIM:601479 ; xref: UNIPROTKB/SWISSPROT:Q12965] Gene [OrphaNum:117757 ; Name:Actinin, alpha 4 ; Symbol:ACTN4 ; xref: HGNC:166 ; xref: OMIM:604638 ; xref: UNIPROTKB/SWISSPROT:O43707 ; xref: GENATLAS:ACTN4 ; xref: ENSEMBL:ENSG00000130402 ; xref: REACTOME:O43707] OMIM:613237 OMIM:612551 EXACT Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Gene [OrphaNum:270424 ; Name:protein tyrosine phosphatase, receptor type, O ; Symbol:PTPRO ; xref: ENSEMBL:ENSG00000151490 ; xref: OMIM:600579 ; xref: GENATLAS:PTPRO ; xref: UNIPROTKB/SWISSPROT:Q16827 ; xref: HGNC:9678] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93214 Orphanet ID- 12192 Gene [OrphaNum:123889 ; Name:Nephrosis 1, congenital, Finnish type (nephrin) ; Symbol:NPHS1 ; xref: GENATLAS:NPHS1 ; xref: HGNC:7908 ; xref: OMIM:602716 ; xref: UNIPROTKB/SWISSPROT:O60500 ; xref: ENSEMBL:ENSG00000161270 ; xref: REACTOME:O60500] Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123889 ; Name:Nephrosis 1, congenital, Finnish type (nephrin) ; Symbol:NPHS1 ; xref: GENATLAS:NPHS1 ; xref: HGNC:7908 ; xref: OMIM:602716 ; xref: UNIPROTKB/SWISSPROT:O60500 ; xref: ENSEMBL:ENSG00000161270 ; xref: REACTOME:O60500] Orphanet ID- 12193 OMIM:600995 Gene [OrphaNum:123893 ; Name:Nephrosis 2, idiopathic, steroid-resistant (podocin) ; Symbol:NPHS2 ; xref: GENATLAS:NPHS2 ; xref: HGNC:13394 ; xref: OMIM:604766 ; xref: UNIPROTKB/SWISSPROT:Q9NP85 ; xref: ENSEMBL:ENSG00000116218 ; xref: REACTOME:Q9NP85] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93216 Gene [OrphaNum:270424 ; Name:protein tyrosine phosphatase, receptor type, O ; Symbol:PTPRO ; xref: ENSEMBL:ENSG00000151490 ; xref: OMIM:600579 ; xref: GENATLAS:PTPRO ; xref: UNIPROTKB/SWISSPROT:Q16827 ; xref: HGNC:9678] Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis OMIM:610725 OMIM:256370 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93217 Orphanet ID- 12194 Gene [OrphaNum:270424 ; Name:protein tyrosine phosphatase, receptor type, O ; Symbol:PTPRO ; xref: ENSEMBL:ENSG00000151490 ; xref: OMIM:600579 ; xref: GENATLAS:PTPRO ; xref: UNIPROTKB/SWISSPROT:Q16827 ; xref: HGNC:9678] OMIM:249660 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] Gene [OrphaNum:159233 ; Name:Phospholipase C, epsilon 1 ; Symbol:PLCE1 ; xref: GENATLAS:PLCE1 ; xref: HGNC:17175 ; xref: OMIM:608414 ; xref: UNIPROTKB/SWISSPROT:Q9P212 ; xref: ENSEMBL:ENSG00000138193] Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93218 Gene [OrphaNum:123893 ; Name:Nephrosis 2, idiopathic, steroid-resistant (podocin) ; Symbol:NPHS2 ; xref: GENATLAS:NPHS2 ; xref: HGNC:13394 ; xref: OMIM:604766 ; xref: UNIPROTKB/SWISSPROT:Q9NP85 ; xref: ENSEMBL:ENSG00000116218 ; xref: REACTOME:Q9NP85] Gene [OrphaNum:240672 ; Name:Apolipoprotein L, 1 ; Symbol:APOL1 ; xref: GENATLAS:APOL1 ; xref: HGNC:618 ; xref: OMIM:603743 ; xref: UNIPROTKB/SWISSPROT:O14791 ; xref: ENSEMBL:ENSG00000100342] Orphanet ID- 12195 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis EXACT Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Orphanet ID- 12196 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93220 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes Gene [OrphaNum:123893 ; Name:Nephrosis 2, idiopathic, steroid-resistant (podocin) ; Symbol:NPHS2 ; xref: GENATLAS:NPHS2 ; xref: HGNC:13394 ; xref: OMIM:604766 ; xref: UNIPROTKB/SWISSPROT:Q9NP85 ; xref: ENSEMBL:ENSG00000116218 ; xref: REACTOME:Q9NP85] Orphanet ID- 12197 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93221 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93222 Orphanet ID- 12198 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Fragile X-associated tremor/ataxia syndrome FXTAS syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- X-linked dominant; ICD10:G11.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 Orphanet ID- 12199 Gene [OrphaNum:121878 ; Name:Fragile X mental retardation 1 ; Symbol:FMR1 ; xref: GENATLAS:FMR1 ; xref: HGNC:3775 ; xref: OMIM:309550 ; xref: UNIPROTKB/SWISSPROT:Q06787 ; xref: ENSEMBL:ENSG00000102081] OMIM:300623 FXTAS syndrome EXACT FXTAS syndrome retinoblastoma Gene [OrphaNum:118239 ; Name:Retinoblastoma 1 (including osteosarcoma) ; Symbol:RB1 ; xref: GENATLAS:RB1 ; xref: HGNC:9884 ; xref: UNIPROTKB/SWISSPROT:P06400 ; xref: OMIM:614041 ; xref: REACTOME:P06400 ; xref: ENSEMBL:ENSG00000139687] prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:180200 Orphanet ID- 122 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=790 ICD10:C69.2 Pfeiffer syndrome type 1 Classic Pfeiffer syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Classic Pfeiffer syndrome Gene [OrphaNum:121802 ; Name:Fibroblast growth factor receptor 1 ; Symbol:FGFR1 ; xref: GENATLAS:FGFR1 ; xref: HGNC:3688 ; xref: OMIM:136350 ; xref: UNIPROTKB/SWISSPROT:P11362 ; xref: ENSEMBL:ENSG00000077782 ; xref: REACTOME:P11362] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 Orphanet ID- 12201 EXACT Classic Pfeiffer syndrome Pfeiffer syndrome type 2 Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 Orphanet ID- 12202 Pfeiffer syndrome type 3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 Orphanet ID- 12203 Crouzon syndrome - acanthosis nigricans Crouzono-dermoskeletal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 Orphanet ID- 12205 OMIM:612247 Crouzono-dermoskeletal syndrome Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Crouzono-dermoskeletal syndrome Cloverleaf skull - multiple congenital anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:607161 Orphanet ID- 12210 Short rib-polydactyly syndrome, Beemer-Langer type Short rib-polydactyly syndrome type 4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 12211 Short rib-polydactyly syndrome type 4 ICD10:Q77.2 OMIM:269860 ICD10:Q69.9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 EXACT Short rib-polydactyly syndrome type 4 Short rib-polydactyly syndrome, Majewski type Short rib-polydactyly syndrome type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 Short rib-polydactyly syndrome type 2 Gene [OrphaNum:258621 ; Name:NIMA (never in mitosis gene a)-related kinase 1 ; Symbol:NEK1 ; xref: ENSEMBL:ENSG00000137601 ; xref: OMIM:604588 ; xref: HGNC:7744 ; xref: GENATLAS:NEK1 ; xref: UNIPROTKB/SWISSPROT:Q96PY6] Orphanet ID- 12212 ICD10:Q69.9 Gene [OrphaNum:183938 ; Name:Dynein, cytoplasmic 2, heavy chain 1 ; Symbol:DYNC2H1 ; xref: ENSEMBL:ENSG00000187240 ; xref: GENATLAS:DYNC2H1 ; xref: HGNC:2962 ; xref: OMIM:603297 ; xref: UNIPROTKB/SWISSPROT:Q8N977] ICD10:Q77.2 OMIM:263520 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Short rib-polydactyly syndrome type 2 Short rib-polydactyly syndrome, Saldino-Noonan type Short rib-polydactyly syndrome type 1 ICD10:Q69.9 Short rib-polydactyly syndrome type 1 OMIM:263530 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 12213 ICD10:Q77.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 EXACT Short rib-polydactyly syndrome type 1 Short rib-polydactyly syndrome, Verma-Naumoff type Short rib-polydactyly syndrome type 3 Gene [OrphaNum:160278 ; Name:Intraflagellar transport 80 homolog ; Symbol:IFT80 ; xref: ENSEMBL:ENSG00000068885 ; xref: GENATLAS:IFT80 ; xref: HGNC:29262 ; xref: UNIPROTKB/SWISSPROT:Q9P2H3 ; xref: OMIM:611177] Short rib-polydactyly syndrome type 3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q77.2 Orphanet ID- 12214 Gene [OrphaNum:183938 ; Name:Dynein, cytoplasmic 2, heavy chain 1 ; Symbol:DYNC2H1 ; xref: ENSEMBL:ENSG00000187240 ; xref: GENATLAS:DYNC2H1 ; xref: HGNC:2962 ; xref: OMIM:603297 ; xref: UNIPROTKB/SWISSPROT:Q8N977] Gene [OrphaNum:239955 ; Name:WD repeat domain 35 ; Symbol:WDR35 ; xref: OMIM:613602 ; xref: GENATLAS:WDR35 ; xref: HGNC:29250 ; xref: UNIPROTKB/SWISSPROT:Q9P2L0 ; xref: ENSEMBL:ENSG00000118965] ICD10:Q69.9 OMIM:263510 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 EXACT Short rib-polydactyly syndrome type 3 Thanatophoric dwarfism type II Cloverleaf skull - micromelic bone dysplasia Thanatophoric dwarfism - cloverleaf skull Cloverleaf skull - micromelic bone dysplasia ICD10:Q77.1 Thanatophoric dwarfism - cloverleaf skull Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 Orphanet ID- 12216 OMIM:156830 OMIM:187601 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] EXACT Thanatophoric dwarfism - cloverleaf skull EXACT Cloverleaf skull - micromelic bone dysplasia Thanatophoric dysplasia, Glasgow variant OMIM:273680 Orphanet ID- 12217 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93275 Polyostotic fibrous dysplasia Jaffe-Lichtenstein disease Jaffe-Lichtenstein disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12218 OMIM:174800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 EXACT Jaffe-Lichtenstein disease Monostotic fibrous dysplasia Orphanet ID- 12219 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 Nevi flammei Port-wine stains ICD10:Q82.5 OMIM:163000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 Orphanet ID- 1222 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Port-wine stains EXACT Port-wine stains Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:604864 Orphanet ID- 12220 ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] Spondyloepimetaphyseal dysplasia, Pakistani type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 Orphanet ID- 12222 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q77.7 Gene [OrphaNum:124077 ; Name:3'-phosphoadenosine 5'-phosphosulfate synthase 2 ; Symbol:PAPSS2 ; xref: GENATLAS:PAPSS2 ; xref: HGNC:8604 ; xref: OMIM:603005 ; xref: UNIPROTKB/SWISSPROT:O95340 ; xref: ENSEMBL:ENSG00000198682 ; xref: REACTOME:O95340] OMIM:612847 Spondyloepiphyseal dysplasia, Kimberley type OMIM:608361 ICD10:Q77.7 Orphanet ID- 12223 Gene [OrphaNum:117718 ; Name:Aggrecan ; Symbol:ACAN ; xref: GENATLAS:ACAN ; xref: HGNC:319 ; xref: OMIM:155760 ; xref: UNIPROTKB/SWISSPROT:P16112 ; xref: ENSEMBL:ENSG00000157766] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Spondyloepiphyseal dysplasia tarda OMIM:184100 Gene [OrphaNum:120241 ; Name:Trafficking protein particle complex 2 ; Symbol:TRAPPC2 ; xref: GENATLAS:TRAPPC2 ; xref: HGNC:23068 ; xref: OMIM:300202 ; xref: UNIPROTKB/SWISSPROT:O14582 ; xref: ENSEMBL:ENSG00000196459] OMIM:609223 ICD10:Q77.7 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; OMIM:271600 OMIM:600093 Orphanet ID- 12224 OMIM:313400 OMIM:271620 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 Pancreatic adenoma Orphanet ID- 12229 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93292 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:147630 Okihiro syndrome Duane-radial ray syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 OMIM:607323 Duane-radial ray syndrome Gene [OrphaNum:118456 ; Name:Sal-like 4 (Drosophila) ; Symbol:SALL4 ; xref: GENATLAS:SALL4 ; xref: HGNC:15924 ; xref: OMIM:607343 ; xref: UNIPROTKB/SWISSPROT:Q9UJQ4 ; xref: ENSEMBL:ENSG00000101115] Orphanet ID- 12230 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Duane-radial ray syndrome Achondrogenesis type 2 Achondrogenesis, Langer-Saldino type Achondrogenesis, Langer-Saldino type OMIM:200610 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12233 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 ICD10:Q77.0 EXACT Achondrogenesis, Langer-Saldino type Hypochondrogenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] ICD10:Q77.0 Orphanet ID- 12234 OMIM:200610 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Achondrogenesis type 1B Achondrogenesis, Parenti-Fraccaro type OMIM:600972 Orphanet ID- 12235 ICD10:Q77.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:118813 ; Name:Solute carrier family 26 (sulfate transporter), member 2 ; Symbol:SLC26A2 ; xref: GENATLAS:SLC26A2 ; xref: HGNC:10994 ; xref: OMIM:606718 ; xref: UNIPROTKB/SWISSPROT:P50443 ; xref: ENSEMBL:ENSG00000155850 ; xref: REACTOME:P50443] Achondrogenesis, Parenti-Fraccaro type EXACT Achondrogenesis, Parenti-Fraccaro type Achondrogenesis type 1A Achondrogenesis, Houston-Harris type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q77.0 Orphanet ID- 12236 Achondrogenesis, Houston-Harris type OMIM:200600 Gene [OrphaNum:225372 ; Name:Thyroid hormone receptor interactor 11 ; Symbol:TRIP11 ; xref: ENSEMBL:ENSG00000100815 ; xref: GENATLAS:TRIP11 ; xref: HGNC:12305 ; xref: OMIM:604505 ; xref: UNIPROTKB/SWISSPROT:Q15643] EXACT Achondrogenesis, Houston-Harris type Brachyolmia type 1, Hobaek type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q76.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93301 OMIM:271530 Orphanet ID- 12238 Brachyolmia type 2 Brachyolmia, Maroteaux type Orphanet ID- 12239 Brachyolmia, Maroteaux type OMIM:613678 ICD10:Q76.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302 EXACT Brachyolmia, Maroteaux type Normokalemic periodic paralysis NormoKPP NormoPP Normokalemic PP Periodic paralysis type 3 Potassium-sensitive normokalemic periodic paralysis Potassium-sensitive normokalemic periodic paralysis NormoPP NormoKPP ICD10:G72.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=680 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Periodic paralysis type 3 OMIM:170600 Normokalemic PP Orphanet ID- 1224 EXACT Potassium-sensitive normokalemic periodic paralysis EXACT Periodic paralysis type 3 EXACT NormoKPP EXACT Normokalemic PP EXACT NormoPP Brachyolmia type 1, Toledo type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:271630 Orphanet ID- 12240 ICD10:Q76.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93303 Brachyolmia type 3 Autosomal dominant brachyolmia Orphanet ID- 12241 Autosomal dominant brachyolmia Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 OMIM:113500 ICD10:Q76.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Autosomal dominant brachyolmia Multiple epiphyseal dysplasia type 4 EDM4 MED4 Polyepiphyseal dysplasia type 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 OMIM:226900 Orphanet ID- 12244 MED4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EDM4 Polyepiphyseal dysplasia type 4 Gene [OrphaNum:118813 ; Name:Solute carrier family 26 (sulfate transporter), member 2 ; Symbol:SLC26A2 ; xref: GENATLAS:SLC26A2 ; xref: HGNC:10994 ; xref: OMIM:606718 ; xref: UNIPROTKB/SWISSPROT:P50443 ; xref: ENSEMBL:ENSG00000155850 ; xref: REACTOME:P50443] ICD10:Q78.8 EXACT Polyepiphyseal dysplasia type 4 EXACT MED4 EXACT EDM4 Multiple epiphyseal dysplasia type 1 EDM1 MED1 Polyepiphyseal dysplasia type 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q78.8 Gene [OrphaNum:120763 ; Name:Cartilage oligomeric matrix protein ; Symbol:COMP ; xref: GENATLAS:COMP ; xref: HGNC:2227 ; xref: OMIM:600310 ; xref: UNIPROTKB/SWISSPROT:P49747 ; xref: ENSEMBL:ENSG00000105664] Orphanet ID- 12245 Polyepiphyseal dysplasia type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 MED1 OMIM:132400 EDM1 EXACT EDM1 EXACT MED1 EXACT Polyepiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 5 EDM5 MED5 Polyepiphyseal dysplasia type 5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EDM5 ICD10:Q78.8 Gene [OrphaNum:123158 ; Name:Matrilin 3 ; Symbol:MATN3 ; xref: GENATLAS:MATN3 ; xref: HGNC:6909 ; xref: OMIM:602109 ; xref: UNIPROTKB/SWISSPROT:O15232 ; xref: ENSEMBL:ENSG00000132031] MED5 Polyepiphyseal dysplasia type 5 OMIM:607078 Orphanet ID- 12248 EXACT EDM5 EXACT MED5 EXACT Polyepiphyseal dysplasia type 5 Testotoxicosis Familial gonadotropin-independent male-limited sexual precocity Male limited precocious puberty Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000 Familial gonadotropin-independent male-limited sexual precocity Orphanet ID- 1225 Gene [OrphaNum:123048 ; Name:Luteinizing hormone/choriogonadotropin receptor ; Symbol:LHCGR ; xref: GENATLAS:LHCGR ; xref: HGNC:6585 ; xref: OMIM:152790 ; xref: UNIPROTKB/SWISSPROT:P22888 ; xref: REACTOME:P22888 ; xref: IUPHAR:254 ; xref: ENSEMBL:ENSG00000138039] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Male limited precocious puberty ICD10:E30.1 OMIM:176410 EXACT Male limited precocious puberty EXACT Familial gonadotropin-independent male-limited sexual precocity Multiple epiphyseal dysplasia, unclassified type Orphanet ID- 12250 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93313 Spondylometaphyseal dysplasia, Kozlowski type prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 Orphanet ID- 12251 ICD10:Q77.8 OMIM:184252 Spondylometaphyseal dysplasia, 'corner fracture' type Spondylometaphyseal dysplasia, Sutcliffe type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 ICD10:Q77.8 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Spondylometaphyseal dysplasia, Sutcliffe type Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] OMIM:184255 Orphanet ID- 12252 EXACT Spondylometaphyseal dysplasia, Sutcliffe type Spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia with severe genu valgum Spondylometaphyseal dysplasia, Algerian type Spondylometaphyseal dysplasia with severe genu valgum prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q77.8 Orphanet ID- 12253 Spondylometaphyseal dysplasia, Algerian type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 OMIM:184253 EXACT Spondylometaphyseal dysplasia, Algerian type EXACT Spondylometaphyseal dysplasia with severe genu valgum Spondylometaphyseal dysplasia, Sedaghatian type OMIM:250220 ICD10:Q77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 12254 Ulnar hemimelia Congenital longitudinal deficiency of the ulna Ulnar clubhand Ulnar clubhand Orphanet ID- 12257 Congenital longitudinal deficiency of the ulna prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320 ICD10:Q71.5 EXACT Ulnar clubhand EXACT Congenital longitudinal deficiency of the ulna Radial hemimelia Congenital longitudinal deficiency of the radius Radial clubhand Congenital longitudinal deficiency of the radius prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Orphanet ID- 12258 ICD10:Q71.4 Radial clubhand Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 EXACT Radial clubhand EXACT Congenital longitudinal deficiency of the radius Tibial hemimelia Absence of tibia Congenital aplasia and dysplasia of the tibia with intact fibula Congenital longitudinal deficiency of the tibia Absence of tibia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 Congenital longitudinal deficiency of the tibia prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Congenital aplasia and dysplasia of the tibia with intact fibula ICD10:Q72.5 OMIM:275220 Orphanet ID- 12259 EXACT Absence of tibia EXACT Congenital aplasia and dysplasia of the tibia with intact fibula EXACT Congenital longitudinal deficiency of the tibia Spina bifida - hypospadias Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1226 ICD10:Q87.8 Fibular hemimelia Congenital longitudinal deficiency of the fibula prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Congenital longitudinal deficiency of the fibula ICD10:Q72.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323 Orphanet ID- 12260 EXACT Congenital longitudinal deficiency of the fibula Autosomal recessive Kenny-Caffey syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 OMIM:244460 Gene [OrphaNum:119938 ; Name:Tubulin folding cofactor E ; Symbol:TBCE ; xref: GENATLAS:TBCE ; xref: HGNC:11582 ; xref: OMIM:604934 ; xref: UNIPROTKB/SWISSPROT:Q15813 ; xref: ENSEMBL:ENSG00000116957 ; xref: REACTOME:Q15813] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 12261 Autosomal dominant Kenny-Caffey syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 Orphanet ID- 12262 OMIM:127000 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal dominant omodysplasia Orphanet ID- 12264 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 ICD10:Q78.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:164745 Autosomal recessive omodysplasia Micromelic dysplasia - dislocation of radius Micromelic dysplasia - dislocation of radius ICD10:Q78.8 Orphanet ID- 12265 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 OMIM:258315 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:201551 ; Name:Glypican 6 ; Symbol:GPC6 ; xref: ENSEMBL:ENSG00000183098 ; xref: GENATLAS:GPC6 ; xref: HGNC:4454 ; xref: OMIM:604404 ; xref: UNIPROTKB/SWISSPROT:Q9Y625] EXACT Micromelic dysplasia - dislocation of radius Pelviscapular dysplasia Cousin syndrome Familial pelvis-scapular dysplasia Familial pelvis-scapular dysplasia Cousin syndrome Gene [OrphaNum:169905 ; Name:T-box 15 ; Symbol:TBX15 ; xref: ENSEMBL:ENSG00000092607 ; xref: GENATLAS:TBX15 ; xref: HGNC:11594 ; xref: OMIM:604127 ; xref: UNIPROTKB/SWISSPROT:Q96SF7] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 12268 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 OMIM:260660 EXACT Cousin syndrome EXACT Familial pelvis-scapular dysplasia Postaxial polydactyly type A OMIM:602085 ICD10:Q69 OMIM:174200 OMIM:608562 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 OMIM:607324 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12269 Tetraploidy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305 Orphanet ID- 1227 Postaxial polydactyly type B Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 ICD10:Q70 OMIM:174200 Orphanet ID- 12270 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Polydactyly of a triphalangeal thumb PPD2 Preaxial polydactyly type 2 Orphanet ID- 12271 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 Preaxial polydactyly type 2 ICD10:Q74.0 PPD2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:174500 ICD10:Q69.1 EXACT PPD2 EXACT Preaxial polydactyly type 2 Polydactyly of an index finger PPD3 Preaxial polydactyly type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12272 PPD3 OMIM:174600 ICD10:Q69.0 Preaxial polydactyly type 3 EXACT PPD3 EXACT Preaxial polydactyly type 3 Polysyndactyly PPD4 Preaxial polydactyly type 4 Preaxial polydactyly type 4 Orphanet ID- 12273 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 ICD10:Q70.4 OMIM:174700 PPD4 EXACT Preaxial polydactyly type 4 EXACT PPD4 Polydactyly of a biphalangeal thumb PPD1 Preaxial polydactyly type 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12274 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 Preaxial polydactyly type 1 OMIM:174400 ICD10:Q69.1 PPD1 EXACT Preaxial polydactyly type 1 EXACT PPD1 Duplication/inversion 15q11 Inv dup(15) Isodicentric 15 chromosome Non-distal tetrasomy 15q Non-telomeric tetrasomy 15q idic(15) prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Non-distal tetrasomy 15q Isodicentric 15 chromosome Inv dup(15) idic(15) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 ICD10:Q99.8 Orphanet ID- 1228 Non-telomeric tetrasomy 15q EXACT Non-telomeric tetrasomy 15q EXACT idic(15) EXACT Non-distal tetrasomy 15q EXACT Inv dup(15) EXACT Isodicentric 15 chromosome Spondyloepimetaphyseal dysplasia congenita, Strudwick type Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q77.7 Orphanet ID- 12280 OMIM:184250 Anauxetic dysplasia Spondyloepimetaphyseal dysplasia, Menger type Spondyloepimetaphyseal dysplasia, anauxetic type OMIM:607095 Gene [OrphaNum:138742 ; Name:RNA component of mitochondrial RNA processing endoribonuclease ; Symbol:RMRP ; xref: GENATLAS:RMRP ; xref: HGNC:10031 ; xref: OMIM:157660 ; xref: ENSEMBL:ENSG00000199916] Spondyloepimetaphyseal dysplasia, anauxetic type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:265545 ; Name:processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) ; Symbol:POP1 ; xref: ENSEMBL:ENSG00000104356 ; xref: HGNC:30129 ; xref: OMIM:602486 ; xref: GENATLAS:POP1 ; xref: UNIPROTKB/SWISSPROT:Q99575] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 ICD10:Q77.7 Orphanet ID- 12281 Spondyloepimetaphyseal dysplasia, Menger type EXACT Spondyloepimetaphyseal dysplasia, anauxetic type EXACT Spondyloepimetaphyseal dysplasia, Menger type X-linked spondyloepimetaphyseal dysplasia Orphanet ID- 12283 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 ICD10:Q77.7 OMIM:300106 Spondyloepimetaphyseal dysplasia, Irapa type SEMD type Irapa SEMD, Irapa type ICD10:Q77.7 Orphanet ID- 12284 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351 SEMD type Irapa SEMD, Irapa type OMIM:271650 EXACT SEMD type Irapa EXACT SEMD, Irapa type Spondyloepimetaphyseal dysplasia, Shohat type SEMD, Shohat type OMIM:602557 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12285 ICD10:Q77.7 SEMD, Shohat type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 EXACT SEMD, Shohat type Spondyloepimetaphyseal dysplasia, Missouri type SEMD type 2 SEMD, Missouri type Spondyloepimetaphyseal dysplasia type 2 Gene [OrphaNum:123436 ; Name:Matrix metallopeptidase 13 (collagenase 3) ; Symbol:MMP13 ; xref: REACTOME:P45452 ; xref: GENATLAS:MMP13 ; xref: HGNC:7159 ; xref: OMIM:600108 ; xref: UNIPROTKB/SWISSPROT:P45452 ; xref: ENSEMBL:ENSG00000137745] SEMD type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 Spondyloepimetaphyseal dysplasia type 2 Orphanet ID- 12287 SEMD, Missouri type OMIM:602111 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q77.7 EXACT SEMD type 2 EXACT Spondyloepimetaphyseal dysplasia type 2 EXACT SEMD, Missouri type SPONASTRIME dysplasia Spondyloepimetaphyseal dysplasia, Sponastrime type ICD10:Q77.7 Orphanet ID- 12288 OMIM:271510 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 Spondyloepimetaphyseal dysplasia, Sponastrime type EXACT Spondyloepimetaphyseal dysplasia, Sponastrime type Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification Gene [OrphaNum:173530 ; Name:Discoidin domain receptor tyrosine kinase 2 ; Symbol:DDR2 ; xref: GENATLAS:DDR2 ; xref: HGNC:2731 ; xref: OMIM:191311 ; xref: UNIPROTKB/SWISSPROT:Q16832 ; xref: ENSEMBL:ENSG00000162733] OMIM:271665 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 ICD10:Q77.7 Orphanet ID- 12289 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Spondyloepimetaphyseal dysplasia with joint laxity SEMDJL ICD10:Q77.7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:271640 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93359 Orphanet ID- 12290 SEMDJL EXACT SEMDJL Spondyloepimetaphyseal dysplasia with multiple dislocations SEMD-MD Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type ICD10:Q77.7 Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type OMIM:603546 Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type Gene [OrphaNum:286634 ; Name:Kinesin family member 22 ; Symbol:KIF22 ; xref: REACTOME:Q14807 ; xref: GENATLAS:KIF22 ; xref: HGNC:6391 ; xref: OMIM:603213 ; xref: UNIPROTKB/SWISSPROT:Q14807 ; xref: ENSEMBL:ENSG00000079616] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12291 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 SEMD-MD EXACT Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type EXACT SEMD-MD EXACT Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type CINCA syndrome with CIAS1 mutations Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93365 Orphanet ID- 12295 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; CINCA syndrome without CIAS1 mutations Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93367 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12296 Oculocerebrorenal syndrome Lowe disease Lowe oculo-cerebro-renal syndrome Lowe syndrome OCR OCRL Oculo-cerebro-renal dystrophy Oculo-cerebro-renal syndrome Oculocerebrorenal dystrophy Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 Lowe disease Oculocerebrorenal dystrophy Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- X-linked recessive; Oculo-cerebro-renal syndrome OCR Lowe oculo-cerebro-renal syndrome OMIM:309000 ICD10:E72.0 Lowe syndrome OCRL Orphanet ID- 123 Oculo-cerebro-renal dystrophy Gene [OrphaNum:123978 ; Name:Oculocerebrorenal syndrome of Lowe ; Symbol:OCRL ; xref: GENATLAS:OCRL ; xref: HGNC:8108 ; xref: OMIM:300535 ; xref: UNIPROTKB/SWISSPROT:Q01968 ; xref: REACTOME:Q01968 ; xref: ENSEMBL:ENSG00000122126] EXACT OCRL EXACT Lowe disease EXACT Oculo-cerebro-renal syndrome EXACT Oculocerebrorenal dystrophy EXACT Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency EXACT Lowe oculo-cerebro-renal syndrome EXACT Lowe syndrome EXACT OCR EXACT Oculo-cerebro-renal dystrophy Tetrasomy 9p Isochromosome 9p Isochromosome 9p prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1230 ICD10:Q99.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310 EXACT Isochromosome 9p Familial hypocalciuric hypercalcemia type 1 Orphanet ID- 12300 Gene [OrphaNum:119185 ; Name:Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) ; Symbol:CASR ; xref: GENATLAS:CASR ; xref: HGNC:1514 ; xref: OMIM:601199 ; xref: UNIPROTKB/SWISSPROT:P41180 ; xref: ENSEMBL:ENSG00000036828 ; xref: IUPHAR:54 ; xref: REACTOME:P41180] ICD10:E83.5 OMIM:145980 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Brachydactyly type A6 Osebold-Remondini syndrome Orphanet ID- 12306 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 Osebold-Remondini syndrome OMIM:112910 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Osebold-Remondini syndrome Brachydactyly type B OMIM:113000 Gene [OrphaNum:118362 ; Name:Receptor tyrosine kinase-like orphan receptor 2 ; Symbol:ROR2 ; xref: GENATLAS:ROR2 ; xref: HGNC:10257 ; xref: OMIM:602337 ; xref: UNIPROTKB/SWISSPROT:Q01974 ; xref: ENSEMBL:ENSG00000169071] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12307 Brachydactyly type C Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384 Orphanet ID- 12308 Gene [OrphaNum:119053 ; Name:Bone morphogenetic protein receptor, type IB ; Symbol:BMPR1B ; xref: GENATLAS:BMPR1B ; xref: HGNC:1077 ; xref: OMIM:603248 ; xref: UNIPROTKB/SWISSPROT:O00238 ; xref: ENSEMBL:ENSG00000138696 ; xref: REACTOME:O00238] OMIM:113100 Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Brachydactyly type D Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93385 Orphanet ID- 12309 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Trisomy X 47,XXX Triple X Triplo-X XXX Orphanet ID- 1231 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 ICD10:Q97.0 Triplo-X prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Triple X XXX 47,XXX EXACT Triplo-X EXACT XXX EXACT 47,XXX EXACT Triple X Brachydactyly type E Orphanet ID- 12310 OMIM:113300 OMIM:613382 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:122466 ; Name:Homeobox D13 ; Symbol:HOXD13 ; xref: GENATLAS:HOXD13 ; xref: HGNC:5136 ; xref: OMIM:142989 ; xref: UNIPROTKB/SWISSPROT:P35453 ; xref: ENSEMBL:ENSG00000128714] Gene [OrphaNum:227063 ; Name:Parathyroid hormone-like hormone ; Symbol:PTHLH ; xref: HGNC:9607 ; xref: GENATLAS:PTHLH ; xref: OMIM:168470 ; xref: UNIPROTKB/SWISSPROT:P12272 ; xref: ENSEMBL:ENSG00000087494 ; xref: REACTOME:P12272] Brachydactyly type A1 Brachydactyly, Farabee type Gene [OrphaNum:122605 ; Name:Indian hedgehog homolog (Drosophila) ; Symbol:IHH ; xref: ENSEMBL:ENSG00000163501 ; xref: REACTOME:Q14623 ; xref: GENATLAS:IHH ; xref: HGNC:5956 ; xref: OMIM:600726 ; xref: UNIPROTKB/SWISSPROT:Q14623] Brachydactyly, Farabee type prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12311 OMIM:112500 OMIM:607004 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 EXACT Brachydactyly, Farabee type Brachydactyly type A5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93389 OMIM:112900 Orphanet ID- 12312 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Brachydactyly type A4 Brachydactyly, Temtamy type Brachymesophalangy II and V Orphanet ID- 12316 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394 Brachydactyly, Temtamy type prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Brachymesophalangy II and V OMIM:112800 EXACT Brachydactyly, Temtamy type EXACT Brachymesophalangy II and V Ballard syndrome Brachydactyly types B and E combined Pitt-Williams brachydactyly Brachydactyly types B and E combined OMIM:112440 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93395 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Pitt-Williams brachydactyly Orphanet ID- 12317 EXACT Brachydactyly types B and E combined EXACT Pitt-Williams brachydactyly Brachydactyly type A2 Brachydactyly, Mohr-Wriedt type OMIM:112600 Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Brachydactyly, Mohr-Wriedt type Gene [OrphaNum:119053 ; Name:Bone morphogenetic protein receptor, type IB ; Symbol:BMPR1B ; xref: GENATLAS:BMPR1B ; xref: HGNC:1077 ; xref: OMIM:603248 ; xref: UNIPROTKB/SWISSPROT:O00238 ; xref: ENSEMBL:ENSG00000138696 ; xref: REACTOME:O00238] Gene [OrphaNum:179459 ; Name:Bone morphogenetic protein 2 ; Symbol:BMP2 ; xref: ENSEMBL:ENSG00000125845 ; xref: REACTOME:P12643 ; xref: GENATLAS:BMP2 ; xref: HGNC:1069 ; xref: OMIM:112261 ; xref: UNIPROTKB/SWISSPROT:P12643] Orphanet ID- 12318 EXACT Brachydactyly, Mohr-Wriedt type Brachydactyly type A7 Brachydactyly, Smorgasbord type Orphanet ID- 12319 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397 Brachydactyly, Smorgasbord type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; EXACT Brachydactyly, Smorgasbord type Triploidy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic; Orphanet ID- 1232 ICD10:Q92.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 Genochondromatosis type 2 Orphanet ID- 12320 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398 Juvenile sialidosis type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 Orphanet ID- 12321 Gene [OrphaNum:119493 ; Name:Solute carrier family 44, member 4 ; Symbol:SLC44A4 ; xref: ENSEMBL:ENSG00000204385 ; xref: REACTOME:Q53GD3 ; xref: GENATLAS:SLC44A4 ; xref: HGNC:13941 ; xref: OMIM:606107 ; xref: UNIPROTKB/SWISSPROT:Q53GD3] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E77.1 OMIM:256550 Gene [OrphaNum:123759 ; Name:Sialidase 1 (lysosomal sialidase) ; Symbol:NEU1 ; xref: GENATLAS:NEU1 ; xref: HGNC:7758 ; xref: OMIM:608272 ; xref: UNIPROTKB/SWISSPROT:Q99519 ; xref: REACTOME:Q99519 ; xref: ENSEMBL:ENSG00000204386] Congenital sialidosis type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:256550 Gene [OrphaNum:123759 ; Name:Sialidase 1 (lysosomal sialidase) ; Symbol:NEU1 ; xref: GENATLAS:NEU1 ; xref: HGNC:7758 ; xref: OMIM:608272 ; xref: UNIPROTKB/SWISSPROT:Q99519 ; xref: REACTOME:Q99519 ; xref: ENSEMBL:ENSG00000204386] Orphanet ID- 12322 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 Gene [OrphaNum:119493 ; Name:Solute carrier family 44, member 4 ; Symbol:SLC44A4 ; xref: ENSEMBL:ENSG00000204385 ; xref: REACTOME:Q53GD3 ; xref: GENATLAS:SLC44A4 ; xref: HGNC:13941 ; xref: OMIM:606107 ; xref: UNIPROTKB/SWISSPROT:Q53GD3] ICD10:E77.1 Syndactyly type 1 Orphanet ID- 12324 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402 ICD10:Q70 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:185900 Syndactyly type 2 Synpolydactyly ICD10:Q69 Synpolydactyly Orphanet ID- 12325 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q70 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403 EXACT Synpolydactyly Syndactyly type 3 SD3 Syndactyly of fingers 4 and 5 OMIM:186100 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 Syndactyly of fingers 4 and 5 Gene [OrphaNum:122102 ; Name:Gap junction protein, alpha 1, 43kDa ; Symbol:GJA1 ; xref: GENATLAS:GJA1 ; xref: HGNC:4274 ; xref: OMIM:121014 ; xref: UNIPROTKB/SWISSPROT:P17302 ; xref: REACTOME:P17302 ; xref: ENSEMBL:ENSG00000152661] ICD10:Q70.1 Orphanet ID- 12326 SD3 EXACT SD3 EXACT Syndactyly of fingers 4 and 5 Syndactyly type 4 Polysyndactyly, Haas type Orphanet ID- 12327 Polysyndactyly, Haas type Gene [OrphaNum:123085 ; Name:Limb region 1 homolog (mouse) ; Symbol:LMBR1 ; xref: ENSEMBL:ENSG00000105983 ; xref: GENATLAS:LMBR1 ; xref: HGNC:13243 ; xref: OMIM:605522 ; xref: UNIPROTKB/SWISSPROT:Q8WVP7] OMIM:186200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 ICD10:Q70.4 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Polysyndactyly, Haas type Syndactyly type 5 Postaxial syndactyly with metacarpal synostosis SD5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 ICD10:Q70 Orphanet ID- 12328 Postaxial syndactyly with metacarpal synostosis SD5 Gene [OrphaNum:122466 ; Name:Homeobox D13 ; Symbol:HOXD13 ; xref: GENATLAS:HOXD13 ; xref: HGNC:5136 ; xref: OMIM:142989 ; xref: UNIPROTKB/SWISSPROT:P35453 ; xref: ENSEMBL:ENSG00000128714] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:186300 EXACT SD5 EXACT Postaxial syndactyly with metacarpal synostosis Mosaic trisomy 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.1 Orphanet ID- 1233 Brachydactyly-syndactyly, Zhao type Orphanet ID- 12331 OMIM:610713 Gene [OrphaNum:122466 ; Name:Homeobox D13 ; Symbol:HOXD13 ; xref: GENATLAS:HOXD13 ; xref: HGNC:5136 ; xref: OMIM:142989 ; xref: UNIPROTKB/SWISSPROT:P35453 ; xref: ENSEMBL:ENSG00000128714] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 Achondroplasia and FGFR3 anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12334 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93420 Type 2 collagen anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93421 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12335 Type 11 collagen anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12336 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93422 Sulfatation disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93423 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12337 Perlecan anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93424 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12338 Bone filaminopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93425 Orphanet ID- 12339 Mosaic trisomy 12 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1234 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698 Short rib dysplasia Orphanet ID- 12340 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426 Metatropic dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12341 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93427 Multiple epiphyseal dysplasia and pseudoachondroplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12342 Multiple metaphyseal dysplasia Orphanet ID- 12343 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430 Severe spondylodysplastic dysplasia Orphanet ID- 12345 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Moderate spondylodysplastic dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12346 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93435 Acromelic dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 Orphanet ID- 12347 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Acromesomelic dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12348 Mesomelic and rhizo-mesomelic dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12349 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438 Mosaic trisomy 15 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706 Orphanet ID- 1235 Bent bone dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439 Orphanet ID- 12350 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Slender bone dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12351 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440 Dysplasia of bones with multiple joint dislocations Orphanet ID- 12352 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Chondrodysplasia punctata prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442 Orphanet ID- 12353 Neonatal osteosclerotic dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12354 Bone disease with increased bone density without modification of the bone shape Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12355 Bone disease with increased bone density and metaphyseal or diaphyseal involvement Orphanet ID- 12356 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93445 Bone disease with decreased bone density prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12357 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446 Bone disease with defective bone mineralization Orphanet ID- 12358 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lysosomal storage disease with skeletal involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12359 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448 Mosaic trisomy 16 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1236 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708 Rare osteolysis Orphanet ID- 12360 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449 Bone disease with disorganized development of skeletal components prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12361 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450 Cleidocranial dysplasia group Orphanet ID- 12362 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451 Craniosynostosis syndrome or cranial ossification disease Orphanet ID- 12363 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93452 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Dysostosis with predominant craniofacial involvement Orphanet ID- 12364 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453 Dysostosis with predominant vertebral and costal involvement Orphanet ID- 12365 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Patellar dysostosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12366 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455 Brachydactyly group prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12367 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93456 Limb hypoplasia or limb reduction defect Orphanet ID- 12368 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457 Polydactyly, syndactyly and/or hyperphalangy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12369 Mosaic trisomy 17 Orphanet ID- 1237 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Synostosis or other joint formation defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459 Orphanet ID- 12370 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Overgrowth syndrome Orphanet ID- 12371 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Chromosomal disease with overgrowth prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12372 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93461 Lethal chondrodysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12375 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465 Limb-girdle bone anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12376 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93466 Hurler syndrome MPS1H Mucopolysaccharidosis type 1H prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; ICD10:E76.0 Orphanet ID- 12381 Gene [OrphaNum:122572 ; Name:Iduronidase, alpha-L- ; Symbol:IDUA ; xref: ENSEMBL:ENSG00000127415 ; xref: GENATLAS:IDUA ; xref: HGNC:5391 ; xref: OMIM:252800 ; xref: UNIPROTKB/SWISSPROT:P35475] Mucopolysaccharidosis type 1H MPS1H Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 OMIM:607014 EXACT MPS1H EXACT Mucopolysaccharidosis type 1H Scheie syndrome MPS1S Mucopolysaccharidosis type 1S Gene [OrphaNum:122572 ; Name:Iduronidase, alpha-L- ; Symbol:IDUA ; xref: ENSEMBL:ENSG00000127415 ; xref: GENATLAS:IDUA ; xref: HGNC:5391 ; xref: OMIM:252800 ; xref: UNIPROTKB/SWISSPROT:P35475] ICD10:E76.0 Mucopolysaccharidosis type 1S prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal recessive; Orphanet ID- 12382 OMIM:607016 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 MPS1S EXACT MPS1S EXACT Mucopolysaccharidosis type 1S Hurler-Scheie syndrome MPS1H/S Mucopolysaccharidosis type 1H/S Mucopolysaccharidosis type 1H/S Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 OMIM:607015 MPS1H/S prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; Gene [OrphaNum:122572 ; Name:Iduronidase, alpha-L- ; Symbol:IDUA ; xref: ENSEMBL:ENSG00000127415 ; xref: GENATLAS:IDUA ; xref: HGNC:5391 ; xref: OMIM:252800 ; xref: UNIPROTKB/SWISSPROT:P35475] Orphanet ID- 12383 ICD10:E76.0 EXACT Mucopolysaccharidosis type 1H/S EXACT MPS1H/S Nonsyndromic renal or urinary tract malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12388 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546 Syndromic renal or urinary tract malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12389 Basement membrane disease Orphanet ID- 12392 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93550 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Complement component receptor 1 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93553 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12395 Familial renal amyloidosis due to Apolipoprotein AI variant Apolipoprotein AI amyloidosis Familial amyloid nephropathy due to Apolipoprotein AI variant Hereditary amyloid nephropathy due to Apolipoprotein AI variant Hereditary renal amyloidosis due to Apolipoprotein AI variant Orphanet ID- 12402 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:105200 Gene [OrphaNum:121380 ; Name:Apolipoprotein A-I ; Symbol:APOA1 ; xref: GENATLAS:APOA1 ; xref: HGNC:600 ; xref: OMIM:107680 ; xref: UNIPROTKB/SWISSPROT:P02647 ; xref: ENSEMBL:ENSG00000118137 ; xref: REACTOME:P02647] Apolipoprotein AI amyloidosis Familial amyloid nephropathy due to Apolipoprotein AI variant Hereditary renal amyloidosis due to Apolipoprotein AI variant Hereditary amyloid nephropathy due to Apolipoprotein AI variant Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 EXACT Apolipoprotein AI amyloidosis EXACT Hereditary renal amyloidosis due to Apolipoprotein AI variant EXACT Familial amyloid nephropathy due to Apolipoprotein AI variant EXACT Hereditary amyloid nephropathy due to Apolipoprotein AI variant Familial renal amyloidosis due to lysozyme variant Familial amyloid nephropathy due to lysozyme variant Hereditary amyloid nephropathy due to lysozyme variant Hereditary renal amyloidosis due to lysozyme variant Lysozyme amyloidosis Hereditary renal amyloidosis due to lysozyme variant Gene [OrphaNum:123322 ; Name:Lysozyme (renal amyloidosis) ; Symbol:LYZ ; xref: REACTOME:P61626 ; xref: ENSEMBL:ENSG00000090382 ; xref: GENATLAS:LYZ ; xref: HGNC:6740 ; xref: OMIM:153450 ; xref: UNIPROTKB/SWISSPROT:P61626] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12403 Lysozyme amyloidosis Hereditary amyloid nephropathy due to lysozyme variant Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 Familial amyloid nephropathy due to lysozyme variant OMIM:105200 EXACT Familial amyloid nephropathy due to lysozyme variant EXACT Hereditary amyloid nephropathy due to lysozyme variant EXACT Lysozyme amyloidosis EXACT Hereditary renal amyloidosis due to lysozyme variant Familial renal amyloidosis due to fibrinogen A alpha-chain variant Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Fibrinogen A alpha-chain amyloidosis Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 OMIM:105200 Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant Orphanet ID- 12404 Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Gene [OrphaNum:121786 ; Name:Fibrinogen alpha chain ; Symbol:FGA ; xref: GENATLAS:FGA ; xref: HGNC:3661 ; xref: OMIM:134820 ; xref: UNIPROTKB/SWISSPROT:P02671 ; xref: ENSEMBL:ENSG00000171560 ; xref: REACTOME:P02671] Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Fibrinogen A alpha-chain amyloidosis EXACT Familial amyloid nephropathy due to fibrinogen A alpha-chain variant EXACT Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant EXACT Fibrinogen A alpha-chain amyloidosis EXACT Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Ring chromosome 21 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.2 Orphanet ID- 1241 Membranoproliferative glomerulonephritis type 1 Orphanet ID- 12412 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93570 Membranoproliferative glomerulonephritis type 2 Dense deposit disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Dense deposit disease Orphanet ID- 12413 OMIM:609814 EXACT Dense deposit disease Membranoproliferative glomerulonephritis type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93572 Orphanet ID- 12414 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Atypical hemolytic uremic syndrome with C3 anomaly Orphanet ID- 12416 OMIM:612925 Gene [OrphaNum:160064 ; Name:Complement component 3 ; Symbol:C3 ; xref: GENATLAS:C3 ; xref: HGNC:1318 ; xref: OMIM:120700 ; xref: UNIPROTKB/SWISSPROT:P01024 ; xref: REACTOME:P01024 ; xref: ENSEMBL:ENSG00000125730] ICD10:D58.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93575 Atypical hemolytic uremic syndrome with MCP/CD46 anomaly OMIM:612922 ICD10:D58.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119259 ; Name:CD46 molecule, complement regulatory protein ; Symbol:CD46 ; xref: GENATLAS:CD46 ; xref: HGNC:6953 ; xref: OMIM:120920 ; xref: UNIPROTKB/SWISSPROT:P15529 ; xref: ENSEMBL:ENSG00000117335 ; xref: REACTOME:P15529] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93576 Orphanet ID- 12417 Atypical hemolytic uremic syndrome with B factor anomaly Orphanet ID- 12418 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93578 Gene [OrphaNum:158379 ; Name:Complement factor B ; Symbol:CFB ; xref: GENATLAS:CFB ; xref: HGNC:1037 ; xref: OMIM:138470 ; xref: UNIPROTKB/SWISSPROT:P00751 ; xref: ENSEMBL:ENSG00000243649 ; xref: REACTOME:P00751] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D58.8 OMIM:612924 Atypical hemolytic uremic syndrome with H factor anomaly Orphanet ID- 12419 ICD10:D58.8 OMIM:609814 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93579 Gene [OrphaNum:119363 ; Name:Complement factor H ; Symbol:CFH ; xref: GENATLAS:CFH ; xref: HGNC:4883 ; xref: OMIM:134370 ; xref: UNIPROTKB/SWISSPROT:P08603 ; xref: REACTOME:P08603 ; xref: ENSEMBL:ENSG00000000971] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:235400 3C syndrome Craniocerebellocardiac dysplasia Ritscher-Schinzel syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.0 OMIM:220210 Craniocerebellocardiac dysplasia Orphanet ID- 1242 Ritscher-Schinzel syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 EXACT Ritscher-Schinzel syndrome EXACT Craniocerebellocardiac dysplasia Atypical hemolytic uremic syndrome with I factor anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93580 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119371 ; Name:Complement factor I ; Symbol:CFI ; xref: GENATLAS:CFI ; xref: HGNC:5394 ; xref: OMIM:217030 ; xref: UNIPROTKB/SWISSPROT:P05156 ; xref: ENSEMBL:ENSG00000205403 ; xref: REACTOME:P05156] ICD10:D58.8 Orphanet ID- 12420 OMIM:612923 Atypical hemolytic uremic syndrome with antibody anti-factor H Gene [OrphaNum:286593 ; Name:Complement factor H-related 3 ; Symbol:CFHR3 ; xref: HGNC:16980 ; xref: OMIM:605336 ; xref: GENATLAS:CFHR3 ; xref: UNIPROTKB/SWISSPROT:Q02985 ; xref: ENSEMBL:ENSG00000116785 ; xref: REACTOME:Q02985] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581 ICD10:D58.8 Orphanet ID- 12421 Gene [OrphaNum:286578 ; Name:Complement factor H-related 1 ; Symbol:CFHR1 ; xref: HGNC:4888 ; xref: OMIM:134371 ; xref: GENATLAS:CFHR1 ; xref: UNIPROTKB/SWISSPROT:Q03591 ; xref: ENSEMBL:ENSG00000244414] OMIM:235400 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency Upshaw-Schulman syndrome ICD10:M31.3 Gene [OrphaNum:117776 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 13 ; Symbol:ADAMTS13 ; xref: GENATLAS:ADAMTS13 ; xref: HGNC:1366 ; xref: OMIM:604134 ; xref: UNIPROTKB/SWISSPROT:Q76LX8 ; xref: ENSEMBL:ENSG00000160323] OMIM:274150 Orphanet ID- 12422 Upshaw-Schulman syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 EXACT Upshaw-Schulman syndrome Familial cystic renal disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93587 Orphanet ID- 12424 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Late-onset autosomal recessive medullary cystic kidney disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12425 Infantile autosomal recessive medullary cystic kidney disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:613820 Orphanet ID- 12426 Gene [OrphaNum:260351 ; Name:tetratricopeptide repeat domain 21B ; Symbol:TTC21B ; xref: ENSEMBL:ENSG00000123607 ; xref: HGNC:25660 ; xref: OMIM:612014 ; xref: GENATLAS:TTC21B ; xref: UNIPROTKB/SWISSPROT:Q7Z4L5] Juvenile autosomal recessive medullary cystic kidney disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592 OMIM:611498 Orphanet ID- 12427 Gene [OrphaNum:168309 ; Name:GLIS family zinc finger 2 ; Symbol:GLIS2 ; xref: GENATLAS:GLIS2 ; xref: HGNC:29450 ; xref: OMIM:608539 ; xref: UNIPROTKB/SWISSPROT:Q9BZE0 ; xref: ENSEMBL:ENSG00000126603] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Nephropathy secondary to a storage or other metabolic disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93593 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12428 Alpha-1-antichymotrypsin deficiency Orphanet ID- 12429 Gene [OrphaNum:200946 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 ; Symbol:SERPINA3 ; xref: ENSEMBL:ENSG00000196136 ; xref: GENATLAS:SERPINA3 ; xref: HGNC:16 ; xref: OMIM:107280 ; xref: UNIPROTKB/SWISSPROT:Q6NSC9] ICD10:E88.0 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93594 Primary hyperoxaluria type 1 Glycolic aciduria Peroxisomal alanine-glyoxylate aminotransferase deficiency Orphanet ID- 12431 prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119538 ; Name:Alanine-glyoxylate aminotransferase ; Symbol:AGXT ; xref: GENATLAS:AGXT ; xref: HGNC:341 ; xref: OMIM:604285 ; xref: UNIPROTKB/SWISSPROT:P21549 ; xref: ENSEMBL:ENSG00000172482 ; xref: REACTOME:P21549] Peroxisomal alanine-glyoxylate aminotransferase deficiency ICD10:E74.8 OMIM:259900 Glycolic aciduria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 EXACT Peroxisomal alanine-glyoxylate aminotransferase deficiency EXACT Glycolic aciduria D-glycerate dehydrogenase deficiency Primary hyperoxaluria type 2 ICD10:E74.8 Gene [OrphaNum:122278 ; Name:Glyoxylate reductase/hydroxypyruvate reductase ; Symbol:GRHPR ; xref: GENATLAS:GRHPR ; xref: HGNC:4570 ; xref: OMIM:604296 ; xref: UNIPROTKB/SWISSPROT:Q9UBQ7 ; xref: REACTOME:Q9UBQ7 ; xref: ENSEMBL:ENSG00000137106] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Primary hyperoxaluria type 2 Orphanet ID- 12432 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 OMIM:260000 EXACT Primary hyperoxaluria type 2 Hyperoxaluria non1-non2 type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 OMIM:613616 Orphanet ID- 12433 ICD10:E74.8 Gene [OrphaNum:242313 ; Name:Dihydrodipicolinate synthase-like, mitochondrial ; Symbol:HOGA1 ; xref: GENATLAS:DHDPSL ; xref: HGNC:25155 ; xref: OMIM:613597 ; xref: UNIPROTKB/SWISSPROT:Q86XE5 ; xref: ENSEMBL:ENSG00000241935] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Xanthinuria type I XDH deficiency XO deficiency XOR deficiency Xanthine dehydrogenase deficiency Xanthine oxidase deficiency Xanthine oxidoreductase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Xanthine oxidase deficiency Xanthine dehydrogenase deficiency OMIM:278300 Gene [OrphaNum:120558 ; Name:Xanthine dehydrogenase ; Symbol:XDH ; xref: GENATLAS:XDH ; xref: HGNC:12805 ; xref: OMIM:607633 ; xref: UNIPROTKB/SWISSPROT:P47989 ; xref: ENSEMBL:ENSG00000158125 ; xref: REACTOME:P47989] ICD10:E79.8 XDH deficiency Xanthine oxidoreductase deficiency XOR deficiency Orphanet ID- 12434 XO deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 EXACT XOR deficiency EXACT XO deficiency EXACT Xanthine dehydrogenase deficiency EXACT Xanthine oxidoreductase deficiency EXACT Xanthine oxidase deficiency EXACT XDH deficiency Xanthinuria type II XDH and AOX dual deficiency Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 ICD10:E79.8 Orphanet ID- 12435 Gene [OrphaNum:123447 ; Name:Molybdenum cofactor sulfurase ; Symbol:MOCOS ; xref: ENSEMBL:ENSG00000075643 ; xref: GENATLAS:MOCOS ; xref: HGNC:18234 ; xref: OMIM:NULL ; xref: UNIPROTKB/SWISSPROT:Q96EN8 ; xref: REACTOME:Q96EN8] XDH and AOX dual deficiency OMIM:603592 EXACT Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency EXACT XDH and AOX dual deficiency Antenatal Bartter syndrome Hyperprostaglandin E syndrome Gene [OrphaNum:122783 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 1 ; Symbol:KCNJ1 ; xref: GENATLAS:KCNJ1 ; xref: HGNC:6255 ; xref: OMIM:600359 ; xref: UNIPROTKB/SWISSPROT:P48048 ; xref: IUPHAR:429 ; xref: ENSEMBL:ENSG00000151704 ; xref: REACTOME:P48048] Orphanet ID- 12437 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:241200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93604 Gene [OrphaNum:118737 ; Name:Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 ; Symbol:SLC12A1 ; xref: GENATLAS:SLC12A1 ; xref: HGNC:10910 ; xref: OMIM:600839 ; xref: UNIPROTKB/SWISSPROT:Q13621 ; xref: ENSEMBL:ENSG00000074803 ; xref: REACTOME:Q13621] OMIM:601678 Hyperprostaglandin E syndrome EXACT Hyperprostaglandin E syndrome Classic Bartter syndrome Adult Bartter syndrome Bartter syndrome type 3 Orphanet ID- 12438 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Adult Bartter syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605 Gene [OrphaNum:119467 ; Name:Chloride channel Kb ; Symbol:CLCNKB ; xref: GENATLAS:CLCNKB ; xref: HGNC:2027 ; xref: OMIM:602023 ; xref: UNIPROTKB/SWISSPROT:P51801 ; xref: ENSEMBL:ENSG00000184908] OMIM:607364 Bartter syndrome type 3 EXACT Bartter syndrome type 3 EXACT Adult Bartter syndrome Nephrogenic syndrome of inappropriate antidiuresis NSIAD prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606 NSIAD Orphanet ID- 12439 EXACT NSIAD Aase-Smith syndrome Aase-Smith I syndrome Hydrocephalus - cleft palate - joint contractures ICD10:Q87.8 Aase-Smith I syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:147800 Orphanet ID- 1244 Hydrocephalus - cleft palate - joint contractures EXACT Hydrocephalus - cleft palate - joint contractures EXACT Aase-Smith I syndrome Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit Renal tubular acidosis type 2 OMIM:604278 Gene [OrphaNum:119685 ; Name:Solute carrier family 4, sodium bicarbonate cotransporter, member 4 ; Symbol:SLC4A4 ; xref: GENATLAS:SLC4A4 ; xref: HGNC:11030 ; xref: OMIM:603345 ; xref: UNIPROTKB/SWISSPROT:Q9Y6R1 ; xref: REACTOME:Q9Y6R1 ; xref: ENSEMBL:ENSG00000080493] Orphanet ID- 12440 Renal tubular acidosis type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 EXACT Renal tubular acidosis type 2 Autosomal dominant renal tubular acidosis Orphanet ID- 12441 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608 Autosomal recessive renal tubular acidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93609 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12442 Renal tubular acidosis - anemia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12443 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 Renal tubular acidosis - deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93611 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12444 Cystinuria type A Gene [OrphaNum:123426 ; Name:Solute carrier family 3 (cystine and activator, dibasic and neutral amino acid transporters/transport), member 1 ; Symbol:SLC3A1 ; xref: GENATLAS:SLC3A1 ; xref: HGNC:11025 ; xref: OMIM:104614 ; xref: UNIPROTKB/SWISSPROT:Q07837 ; xref: REACTOME:Q07837 ; xref: ENSEMBL:ENSG00000138079] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 OMIM:220100 ICD10:E72.0 Orphanet ID- 12445 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cystinuria type B Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 Orphanet ID- 12446 ICD10:E72.0 OMIM:220100 Gene [OrphaNum:119713 ; Name:Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 ; Symbol:SLC7A9 ; xref: GENATLAS:SLC7A9 ; xref: HGNC:11067 ; xref: OMIM:604144 ; xref: UNIPROTKB/SWISSPROT:P82251 ; xref: REACTOME:P82251 ; xref: ENSEMBL:ENSG00000021488] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hematological disorder with renal involvement Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93614 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12447 Hemoglobin H disease HbH disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 Gene [OrphaNum:138671 ; Name:Hemoglobin, alpha 1 ; Symbol:HBA1 ; xref: GENATLAS:HBA1 ; xref: HGNC:4823 ; xref: OMIM:141800 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000206172] ICD10:D56.0 HbH disease Orphanet ID- 12449 Gene [OrphaNum:122374 ; Name:Hemoglobin, alpha 2 ; Symbol:HBA2 ; xref: GENATLAS:HBA2 ; xref: HGNC:4824 ; xref: OMIM:141850 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000188536] OMIM:613978 EXACT HbH disease ABCD syndrome Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness Orphanet ID- 1245 Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness Gene [OrphaNum:121287 ; Name:Endothelin receptor type B ; Symbol:EDNRB ; xref: GENATLAS:EDNRB ; xref: HGNC:3180 ; xref: OMIM:131244 ; xref: UNIPROTKB/SWISSPROT:P24530 ; xref: ENSEMBL:ENSG00000136160 ; xref: IUPHAR:220 ; xref: REACTOME:P24530] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=918 ICD10:L81.8 OMIM:600501 EXACT Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness Dent disease type 1 Nephrolithiasis type 1 OMIM:310468 OMIM:300554 Gene [OrphaNum:119453 ; Name:Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease) ; Symbol:CLCN5 ; xref: ENSEMBL:ENSG00000171365 ; xref: GENATLAS:CLCN5 ; xref: HGNC:2023 ; xref: OMIM:300008 ; xref: UNIPROTKB/SWISSPROT:P51795] OMIM:300009 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 Nephrolithiasis type 1 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive; OMIM:308990 Orphanet ID- 12453 EXACT Nephrolithiasis type 1 Dent disease type 2 Nephrolithiasis type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 Nephrolithiasis type 2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300555 Orphanet ID- 12454 Gene [OrphaNum:123978 ; Name:Oculocerebrorenal syndrome of Lowe ; Symbol:OCRL ; xref: GENATLAS:OCRL ; xref: HGNC:8108 ; xref: OMIM:300535 ; xref: UNIPROTKB/SWISSPROT:Q01968 ; xref: REACTOME:Q01968 ; xref: ENSEMBL:ENSG00000122126] EXACT Nephrolithiasis type 2 Ablepharon macrostomia syndrome Orphanet ID- 1247 OMIM:200110 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 ICD10:Q87.0 Abruzzo-Erickson syndrome Cleft palate - coloboma - deafness Cleft palate - coloboma - deafness prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 1248 ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 OMIM:302905 EXACT Cleft palate - coloboma - deafness Neurofibromatosis type 3 NF3 Neurilemmomatosis Schwannomatosis OMIM:162260 OMIM:162091 Neurilemmomatosis Gene [OrphaNum:119735 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ; Symbol:SMARCB1 ; xref: GENATLAS:SMARCB1 ; xref: HGNC:11103 ; xref: OMIM:601607 ; xref: UNIPROTKB/SWISSPROT:Q12824 ; xref: ENSEMBL:ENSG00000099956] Orphanet ID- 12482 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; NF3 Schwannomatosis Gene [OrphaNum:123774 ; Name:Neurofibromin 2 (bilateral acoustic neuroma) ; Symbol:NF2 ; xref: ENSEMBL:ENSG00000186575 ; xref: GENATLAS:NF2 ; xref: HGNC:7773 ; xref: OMIM:607379 ; xref: UNIPROTKB/SWISSPROT:P35240] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 EXACT Schwannomatosis EXACT NF3 EXACT Neurilemmomatosis Lobar holoprosencephaly Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] ICD10:Q04.2 Gene [OrphaNum:120072 ; Name:TGFB-induced factor homeobox 1 ; Symbol:TGIF1 ; xref: GENATLAS:TGIF1 ; xref: HGNC:11776 ; xref: OMIM:602630 ; xref: UNIPROTKB/SWISSPROT:Q15583 ; xref: ENSEMBL:ENSG00000177426] Gene [OrphaNum:281953 ; Name:Delta-like 1 (Drosophila) ; Symbol:DLL1 ; xref: ENSEMBL:ENSG00000198719 ; xref: REACTOME:O00548 ; xref: HGNC:2908 ; xref: OMIM:606582 ; xref: GENATLAS:DLL1 ; xref: UNIPROTKB/SWISSPROT:O00548] Gene [OrphaNum:242325 ; Name:Dispatched homolog 1 (Drosophila) ; Symbol:DISP1 ; xref: GENATLAS:DISP1 ; xref: HGNC:19711 ; xref: OMIM:607502 ; xref: ENSEMBL:ENSG00000154309 ; xref: UNIPROTKB/SWISSPROT:Q96F81] Orphanet ID- 12484 Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] Gene [OrphaNum:285758 ; Name:Growth arrest-specific 1 ; Symbol:GAS1 ; xref: GENATLAS:GAS1 ; xref: HGNC:4165 ; xref: UNIPROTKB/SWISSPROT:P54826 ; xref: OMIM:139185 ; xref: ENSEMBL:ENSG00000180447] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 OMIM:236100 OMIM:605934 OMIM:609408 Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] Gene [OrphaNum:138518 ; Name:Teratocarcinoma-derived growth factor 1 ; Symbol:TDGF1 ; xref: GENATLAS:TDGF1 ; xref: HGNC:11701 ; xref: OMIM:187395 ; xref: UNIPROTKB/SWISSPROT:P13385 ; xref: ENSEMBL:ENSG00000241186 ; xref: REACTOME:P13385] Gene [OrphaNum:159600 ; Name:Forkhead box H1 ; Symbol:FOXH1 ; xref: GENATLAS:FOXH1 ; xref: HGNC:3814 ; xref: OMIM:603621 ; xref: UNIPROTKB/SWISSPROT:O75593 ; xref: ENSEMBL:ENSG00000160973 ; xref: REACTOME:O75593] Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083] Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047] Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Gene [OrphaNum:120610 ; Name:Zic family member 2 (odd-paired homolog, Drosophila) ; Symbol:ZIC2 ; xref: GENATLAS:ZIC2 ; xref: HGNC:12873 ; xref: OMIM:603073 ; xref: UNIPROTKB/SWISSPROT:O95409 ; xref: ENSEMBL:ENSG00000043355] Gene [OrphaNum:279776 ; Name:Cdon homolog (mouse) ; Symbol:CDON ; xref: ENSEMBL:ENSG00000064309 ; xref: REACTOME:Q4KMG0 ; xref: HGNC:17104 ; xref: OMIM:608707 ; xref: UNIPROTKB/SWISSPROT:Q4KMG0 ; xref: GENATLAS:CDON] Alobar holoprosencephaly Gene [OrphaNum:138518 ; Name:Teratocarcinoma-derived growth factor 1 ; Symbol:TDGF1 ; xref: GENATLAS:TDGF1 ; xref: HGNC:11701 ; xref: OMIM:187395 ; xref: UNIPROTKB/SWISSPROT:P13385 ; xref: ENSEMBL:ENSG00000241186 ; xref: REACTOME:P13385] Gene [OrphaNum:120072 ; Name:TGFB-induced factor homeobox 1 ; Symbol:TGIF1 ; xref: GENATLAS:TGIF1 ; xref: HGNC:11776 ; xref: OMIM:602630 ; xref: UNIPROTKB/SWISSPROT:Q15583 ; xref: ENSEMBL:ENSG00000177426] Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083] Gene [OrphaNum:120610 ; Name:Zic family member 2 (odd-paired homolog, Drosophila) ; Symbol:ZIC2 ; xref: GENATLAS:ZIC2 ; xref: HGNC:12873 ; xref: OMIM:603073 ; xref: UNIPROTKB/SWISSPROT:O95409 ; xref: ENSEMBL:ENSG00000043355] Gene [OrphaNum:279776 ; Name:Cdon homolog (mouse) ; Symbol:CDON ; xref: ENSEMBL:ENSG00000064309 ; xref: REACTOME:Q4KMG0 ; xref: HGNC:17104 ; xref: OMIM:608707 ; xref: UNIPROTKB/SWISSPROT:Q4KMG0 ; xref: GENATLAS:CDON] ICD10:Q04.2 Gene [OrphaNum:285758 ; Name:Growth arrest-specific 1 ; Symbol:GAS1 ; xref: GENATLAS:GAS1 ; xref: HGNC:4165 ; xref: UNIPROTKB/SWISSPROT:P54826 ; xref: OMIM:139185 ; xref: ENSEMBL:ENSG00000180447] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920] Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047] Gene [OrphaNum:281953 ; Name:Delta-like 1 (Drosophila) ; Symbol:DLL1 ; xref: ENSEMBL:ENSG00000198719 ; xref: REACTOME:O00548 ; xref: HGNC:2908 ; xref: OMIM:606582 ; xref: GENATLAS:DLL1 ; xref: UNIPROTKB/SWISSPROT:O00548] OMIM:236100 OMIM:609408 Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Gene [OrphaNum:159600 ; Name:Forkhead box H1 ; Symbol:FOXH1 ; xref: GENATLAS:FOXH1 ; xref: HGNC:3814 ; xref: OMIM:603621 ; xref: UNIPROTKB/SWISSPROT:O75593 ; xref: ENSEMBL:ENSG00000160973 ; xref: REACTOME:O75593] Gene [OrphaNum:242325 ; Name:Dispatched homolog 1 (Drosophila) ; Symbol:DISP1 ; xref: GENATLAS:DISP1 ; xref: HGNC:19711 ; xref: OMIM:607502 ; xref: ENSEMBL:ENSG00000154309 ; xref: UNIPROTKB/SWISSPROT:Q96F81] Orphanet ID- 12485 Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] Midline interhemispheric variant of holoprosencephaly MIH MIH type HPE MIHF MIHV Middle interhemispheric fusion variant Middle interhemispheric variant of holoprosencephaly Syntelencephaly MIH type HPE Gene [OrphaNum:120072 ; Name:TGFB-induced factor homeobox 1 ; Symbol:TGIF1 ; xref: GENATLAS:TGIF1 ; xref: HGNC:11776 ; xref: OMIM:602630 ; xref: UNIPROTKB/SWISSPROT:Q15583 ; xref: ENSEMBL:ENSG00000177426] Middle interhemispheric fusion variant Gene [OrphaNum:279776 ; Name:Cdon homolog (mouse) ; Symbol:CDON ; xref: ENSEMBL:ENSG00000064309 ; xref: REACTOME:Q4KMG0 ; xref: HGNC:17104 ; xref: OMIM:608707 ; xref: UNIPROTKB/SWISSPROT:Q4KMG0 ; xref: GENATLAS:CDON] Middle interhemispheric variant of holoprosencephaly Orphanet ID- 12486 Gene [OrphaNum:285758 ; Name:Growth arrest-specific 1 ; Symbol:GAS1 ; xref: GENATLAS:GAS1 ; xref: HGNC:4165 ; xref: UNIPROTKB/SWISSPROT:P54826 ; xref: OMIM:139185 ; xref: ENSEMBL:ENSG00000180447] ICD10:Q04.2 MIHF Gene [OrphaNum:242325 ; Name:Dispatched homolog 1 (Drosophila) ; Symbol:DISP1 ; xref: GENATLAS:DISP1 ; xref: HGNC:19711 ; xref: OMIM:607502 ; xref: ENSEMBL:ENSG00000154309 ; xref: UNIPROTKB/SWISSPROT:Q96F81] Gene [OrphaNum:138518 ; Name:Teratocarcinoma-derived growth factor 1 ; Symbol:TDGF1 ; xref: GENATLAS:TDGF1 ; xref: HGNC:11701 ; xref: OMIM:187395 ; xref: UNIPROTKB/SWISSPROT:P13385 ; xref: ENSEMBL:ENSG00000241186 ; xref: REACTOME:P13385] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920] Gene [OrphaNum:281953 ; Name:Delta-like 1 (Drosophila) ; Symbol:DLL1 ; xref: ENSEMBL:ENSG00000198719 ; xref: REACTOME:O00548 ; xref: HGNC:2908 ; xref: OMIM:606582 ; xref: GENATLAS:DLL1 ; xref: UNIPROTKB/SWISSPROT:O00548] Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] Syntelencephaly MIHV MIH Gene [OrphaNum:159600 ; Name:Forkhead box H1 ; Symbol:FOXH1 ; xref: GENATLAS:FOXH1 ; xref: HGNC:3814 ; xref: OMIM:603621 ; xref: UNIPROTKB/SWISSPROT:O75593 ; xref: ENSEMBL:ENSG00000160973 ; xref: REACTOME:O75593] Gene [OrphaNum:120610 ; Name:Zic family member 2 (odd-paired homolog, Drosophila) ; Symbol:ZIC2 ; xref: GENATLAS:ZIC2 ; xref: HGNC:12873 ; xref: OMIM:603073 ; xref: UNIPROTKB/SWISSPROT:O95409 ; xref: ENSEMBL:ENSG00000043355] Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083] OMIM:236100 Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047] OMIM:609637 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 EXACT MIH EXACT Middle interhemispheric variant of holoprosencephaly EXACT MIHF EXACT Syntelencephaly EXACT MIHV EXACT Middle interhemispheric fusion variant EXACT MIH type HPE Epispadias Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 OMIM:600057 Orphanet ID- 12488 ICD10:Q64.0 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Cloacal exstrophy OEIS complex Omphalocele - cloacal exstrophy - imperforate anus - spinal defect Omphalocele - cloacal exstrophy - imperforate anus - spinal defect OMIM:258040 OEIS complex prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Multigenic/multifactorial; ICD10:Q45.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 Orphanet ID- 12489 EXACT Omphalocele - cloacal exstrophy - imperforate anus - spinal defect EXACT OEIS complex Bladder exstrophy Classic exstrophy of the bladder prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Multigenic/multifactorial; OMIM:600057 Orphanet ID- 12490 ICD10:Q64.1 Classic exstrophy of the bladder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 EXACT Classic exstrophy of the bladder Terminal transverse defects of arm Congenital limb amputation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93937 OMIM:217100 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12497 Congenital limb amputation EXACT Congenital limb amputation Laryngo-tracheo-esophageal cleft type 1 LTEC I LTEC1 ICD10:Q32.1 LTEC I Orphanet ID- 12498 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; LTEC1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 EXACT LTEC I EXACT LTEC1 Laryngo-tracheo-esophageal cleft type 2 LTEC II LTEC2 LTEC II LTEC2 Orphanet ID- 12499 ICD10:Q32.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; EXACT LTEC II EXACT LTEC2 Sickle cell anemia Sickle cell disease sickle cell disease true ICD10:D57 Orphanet ID- 125 Sickle cell disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 OMIM:603903 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal recessive; EXACT Sickle cell disease Laryngo-tracheo-esophageal cleft type 3 LTEC III LTEC3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; LTEC3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940 Orphanet ID- 12500 LTEC III ICD10:Q32.1 EXACT LTEC3 EXACT LTEC III Laryngo-tracheo-esophageal cleft type 4 LTEC IV LTEC4 LTEC IV prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 ICD10:Q32.1 LTEC4 Orphanet ID- 12501 EXACT LTEC4 EXACT LTEC IV X-linked intellectual deficit, Fichera type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93944 Orphanet ID- 12504 X-linked intellectual deficit, Porteous type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 Orphanet ID- 12505 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hamel cerebro-palato-cardiac syndrome OMIM:309500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 Orphanet ID- 12506 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; Gene [OrphaNum:117983 ; Name:Polyglutamine binding protein 1 ; Symbol:PQBP1 ; xref: GENATLAS:PQBP1 ; xref: HGNC:9330 ; xref: OMIM:300463 ; xref: UNIPROTKB/SWISSPROT:O60828 ; xref: ENSEMBL:ENSG00000102103] X-linked intellectual deficit, Golabi-Ito-Hall type Gene [OrphaNum:117983 ; Name:Polyglutamine binding protein 1 ; Symbol:PQBP1 ; xref: GENATLAS:PQBP1 ; xref: HGNC:9330 ; xref: OMIM:300463 ; xref: UNIPROTKB/SWISSPROT:O60828 ; xref: ENSEMBL:ENSG00000102103] OMIM:309500 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; Orphanet ID- 12507 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947 X-linked intellectual deficit, Sutherland-Haan type Orphanet ID- 12508 OMIM:309500 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 X-linked dominant intellectual deficit - epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93951 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12509 Insulin-resistance syndrome type A prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 1251 ICD10:E11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297 Gene [OrphaNum:122664 ; Name:Insulin receptor ; Symbol:INSR ; xref: GENATLAS:INSR ; xref: HGNC:6091 ; xref: OMIM:147670 ; xref: UNIPROTKB/SWISSPROT:P06213 ; xref: ENSEMBL:ENSG00000171105 ; xref: REACTOME:P06213] OMIM:610549 X-linked recessive intellectual deficit - epilepsy Gene [OrphaNum:118855 ; Name:ATPase, H+ transporting, lysosomal accessory protein 2 ; Symbol:ATP6AP2 ; xref: GENATLAS:ATP6AP2 ; xref: HGNC:18305 ; xref: OMIM:300556 ; xref: UNIPROTKB/SWISSPROT:O75787 ; xref: ENSEMBL:ENSG00000182220] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 OMIM:300423 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12510 Familial thyroglossal duct cyst Orphanet ID- 12511 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953 OMIM:188455 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Benign essential blepharospasm Primary blepharospasm prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown; Gene [OrphaNum:121181 ; Name:Dopamine receptor D5 ; Symbol:DRD5 ; xref: GENATLAS:DRD5 ; xref: HGNC:3026 ; xref: OMIM:126453 ; xref: UNIPROTKB/SWISSPROT:P21918 ; xref: IUPHAR:218 ; xref: REACTOME:P21918 ; xref: ENSEMBL:ENSG00000169676] OMIM:606798 Primary blepharospasm Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93955 ICD10:G24.5 Orphanet ID- 12513 EXACT Primary blepharospasm Truncal dystonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93956 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12514 ICD10:G24.8 Limb dystonia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:611284 ICD10:G24.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93957 Orphanet ID- 12515 Oromandibular dystonia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G24.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93958 Orphanet ID- 12516 Laryngeal dyskinesia Laryngeal dystonia Spasmodic dysphonia Spasmodic dysphonia Orphanet ID- 12519 Laryngeal dystonia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E24.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93961 EXACT Spasmodic dysphonia EXACT Laryngeal dystonia Cervical dystonia Spasmodic torticollis Gene [OrphaNum:139899 ; Name:Dystonia 7, torsion (autosomal dominant) ; Symbol:DYT7 ; xref: HGNC:3107 ; xref: OMIM:602124] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93962 Orphanet ID- 12520 Gene [OrphaNum:121181 ; Name:Dopamine receptor D5 ; Symbol:DRD5 ; xref: GENATLAS:DRD5 ; xref: HGNC:3026 ; xref: OMIM:126453 ; xref: UNIPROTKB/SWISSPROT:P21918 ; xref: IUPHAR:218 ; xref: REACTOME:P21918 ; xref: ENSEMBL:ENSG00000169676] Spasmodic torticollis OMIM:126453 OMIM:602124 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G24.3 EXACT Spasmodic torticollis Autosomal dominant focal dystonia, DYT7 type Adult-onset focal torsion dystonia Adult-onset idiopathic torsion dystonia DYT7 Gene [OrphaNum:139899 ; Name:Dystonia 7, torsion (autosomal dominant) ; Symbol:DYT7 ; xref: HGNC:3107 ; xref: OMIM:602124] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G24.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93963 DYT7 OMIM:602124 Adult-onset idiopathic torsion dystonia Adult-onset focal torsion dystonia Orphanet ID- 12521 EXACT Adult-onset idiopathic torsion dystonia EXACT DYT7 EXACT Adult-onset focal torsion dystonia Blepharospasm - oromandibular dystonia Meige dystonia Meige syndrome ICD10:G24.8 Meige dystonia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93964 Orphanet ID- 12522 Meige syndrome EXACT Meige dystonia EXACT Meige syndrome Myelomeningocele Orphanet ID- 12527 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Holmes-Gang syndrome OMIM:309580 Orphanet ID- 12528 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93970 Chudley-Lowry-Hoar syndrome Chudley-Lowry syndrome Orphanet ID- 12529 Chudley-Lowry syndrome Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] OMIM:309580 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93971 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Chudley-Lowry syndrome Triple A syndrome AAA syndrome Achalasia - addisonianism - alacrima syndrome Allgrove syndrome Achalasia - addisonianism - alacrima syndrome Orphanet ID- 1253 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 ICD10:E27.4 Gene [OrphaNum:117613 ; Name:Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) ; Symbol:AAAS ; xref: GENATLAS:AAAS ; xref: HGNC:13666 ; xref: OMIM:605378 ; xref: UNIPROTKB/SWISSPROT:Q9NRG9 ; xref: REACTOME:Q9NRG9 ; xref: ENSEMBL:ENSG00000094914] OMIM:231550 Allgrove syndrome AAA syndrome EXACT AAA syndrome EXACT Allgrove syndrome EXACT Achalasia - addisonianism - alacrima syndrome Juberg-Marsidi syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93972 Orphanet ID- 12530 OMIM:309580 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] Carpenter-Waziri syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93973 Orphanet ID- 12531 OMIM:309580 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] Smith-Fineman-Myers syndrome OMIM:309580 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93974 Orphanet ID- 12532 Renier-Gabreels-Jasper syndrome Orphanet ID- 12533 OMIM:309580 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93975 Anotia ICD10:Q16.0 Gene [OrphaNum:159716 ; Name:Homeobox A2 ; Symbol:HOXA2 ; xref: GENATLAS:HOXA2 ; xref: HGNC:5103 ; xref: OMIM:604685 ; xref: UNIPROTKB/SWISSPROT:O43364 ; xref: ENSEMBL:ENSG00000105996] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12534 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976 OMIM:600674 Humeroulnar synostosis Orphanet ID- 12538 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056 Neovascular glaucoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058 Orphanet ID- 12539 Achalasia - microcephaly ICD10:Q87.5 Orphanet ID- 1254 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:200450 Macrocephaly - immune deficiency - anemia Orphanet ID- 12542 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94061 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Unknown; Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94062 Orphanet ID- 12543 Gene [OrphaNum:159752 ; Name:Low density lipoprotein receptor-related protein 6 ; Symbol:LRP6 ; xref: GENATLAS:LRP6 ; xref: HGNC:6698 ; xref: OMIM:603507 ; xref: UNIPROTKB/SWISSPROT:O75581 ; xref: ENSEMBL:ENSG00000070018] prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal dominant; 12q14 microdeletion syndrome Del(12)(q14) Deletion 12q14 Monosomy 12q14 Osteopoikilosis - short stature - intellectual deficit Osteopoikilosis - short stature - intellectual deficit Monosomy 12q14 Gene [OrphaNum:248487 ; Name:High mobility group AT-hook 2 ; Symbol:HMGA2 ; xref: ENSEMBL:ENSG00000149948 ; xref: GENATLAS:HMGA2 ; xref: HGNC:5009 ; xref: UNIPROTKB/SWISSPROT:P52926 ; xref: OMIM:600698] Del(12)(q14) Deletion 12q14 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Gene [OrphaNum:123031 ; Name:LEM domain containing 3 ; Symbol:LEMD3 ; xref: GENATLAS:LEMD3 ; xref: HGNC:28887 ; xref: OMIM:607844 ; xref: UNIPROTKB/SWISSPROT:Q9Y2U8 ; xref: ENSEMBL:ENSG00000174106] ICD10:Q93.5 Orphanet ID- 12544 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 EXACT Deletion 12q14 EXACT Monosomy 12q14 EXACT Del(12)(q14) EXACT Osteopoikilosis - short stature - intellectual deficit Deafness-infertility syndrome DIS prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:159178 ; Name:Stereocilin ; Symbol:STRC ; xref: HGNC:16035 ; xref: OMIM:606440 ; xref: UNIPROTKB/SWISSPROT:Q7RTU9 ; xref: GENATLAS:STRC ; xref: ENSEMBL:ENSG00000242866] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 Gene [OrphaNum:159339 ; Name:Cation channel, sperm associated 2 ; Symbol:CATSPER2 ; xref: IUPHAR:389 ; xref: ENSEMBL:ENSG00000166762 ; xref: GENATLAS:CATSPER ; xref: HGNC:18810 ; xref: OMIM:607249 ; xref: UNIPROTKB/SWISSPROT:Q96P56] DIS Orphanet ID- 12545 OMIM:611102 EXACT DIS 15q24 microdeletion syndrome Del(15)(q24) Monosomy 15q24 ICD10:Q93.5 Orphanet ID- 12546 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Del(15)(q24) OMIM:613406 Monosomy 15q24 EXACT Monosomy 15q24 EXACT Del(15)(q24) Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia Orphanet ID- 12547 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Spondyloepiphyseal dysplasia congenita Congenital spondyloepiphyseal dysplasia SEDC Spranger-Wiedemann disease Congenital spondyloepiphyseal dysplasia Spranger-Wiedemann disease SEDC Orphanet ID- 12548 prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 OMIM:183900 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] ICD10:Q77.7 EXACT Spranger-Wiedemann disease EXACT SEDC EXACT Congenital spondyloepiphyseal dysplasia Acheiropodia Acheiropody Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 ICD10:Q74.8 Orphanet ID- 1255 Acheiropody OMIM:200500 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Acheiropody Partington syndrome Partington-Mulley syndrome X-linked intellectual deficit - dystonia - dysarthria Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848] Partington-Mulley syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 Orphanet ID- 12553 OMIM:309510 X-linked intellectual deficit - dystonia - dysarthria EXACT X-linked intellectual deficit - dystonia - dysarthria EXACT Partington-Mulley syndrome Pachygyria - epilepsy - intellectual deficit - dysmorphism Cerebro-oculo-facial-lymphatic syndrome Fryns-Aftimos syndrome Fryns-Aftimos syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94084 OMIM:606155 ICD10:Q04.3 Cerebro-oculo-facial-lymphatic syndrome Orphanet ID- 12554 EXACT Fryns-Aftimos syndrome EXACT Cerebro-oculo-facial-lymphatic syndrome Blue diaper syndrome Drummond syndrome Familial hypercalcemia - nephrocalcinosis - indicanuria OMIM:211000 Drummond syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086 Familial hypercalcemia - nephrocalcinosis - indicanuria prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:E72.0 Orphanet ID- 12555 EXACT Drummond syndrome EXACT Familial hypercalcemia - nephrocalcinosis - indicanuria Hereditary renal hypouricemia OMIM:220150 OMIM:612076 OMIM:242050 Gene [OrphaNum:166795 ; Name:Solute carrier family 22 (organic anion/urate transporter), member 12 ; Symbol:SLC22A12 ; xref: GENATLAS:SLC22A12 ; xref: HGNC:17989 ; xref: OMIM:607096 ; xref: UNIPROTKB/SWISSPROT:Q96S37 ; xref: REACTOME:Q96S37 ; xref: ENSEMBL:ENSG00000197891] Gene [OrphaNum:171045 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 9 ; Symbol:SLC2A9 ; xref: GENATLAS:SLC2A9 ; xref: HGNC:13446 ; xref: OMIM:606142 ; xref: UNIPROTKB/SWISSPROT:Q9NRM0 ; xref: ENSEMBL:ENSG00000109667 ; xref: REACTOME:Q9NRM0] OMIM:307830 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088 Orphanet ID- 12557 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pseudohypoparathyroidism type 1B Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] OMIM:603233 Gene [OrphaNum:167897 ; Name:Syntaxin 16 ; Symbol:STX16 ; xref: GENATLAS:STX16 ; xref: HGNC:11431 ; xref: OMIM:603666 ; xref: UNIPROTKB/SWISSPROT:Q9H0Z0 ; xref: ENSEMBL:ENSG00000124222 ; xref: REACTOME:Q9H0Z0] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12558 ICD10:E20.1 Pseudohypoparathyroidism type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090 Orphanet ID- 12559 ICD10:E20.1 OMIM:203330 Achondrogenesis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 Orphanet ID- 1256 ICD10:Q77.0 Spondylocostal dysostosis - anal and genitourinary malformations Casamassima-Morton-Nance syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Casamassima-Morton-Nance syndrome Orphanet ID- 12562 OMIM:271520 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94095 EXACT Casamassima-Morton-Nance syndrome Cerebellar ataxia, Cayman type Cayman ataxia Orphanet ID- 12563 OMIM:601238 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:G11.0 Gene [OrphaNum:121472 ; Name:Ataxia, cerebellar, Cayman type (caytaxin) ; Symbol:ATCAY ; xref: GENATLAS:ATCAY ; xref: HGNC:779 ; xref: OMIM:608179 ; xref: UNIPROTKB/SWISSPROT:Q86WG3 ; xref: ENSEMBL:ENSG00000167654] Cayman ataxia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 EXACT Cayman ataxia Spinocerebellar ataxia type 1 with axonal neuropathy SCAN1 Orphanet ID- 12564 SCAN1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G60.2 Gene [OrphaNum:120006 ; Name:Tyrosyl-DNA phosphodiesterase 1 ; Symbol:TDP1 ; xref: OMIM:607198 ; xref: UNIPROTKB/SWISSPROT:Q9NUW8 ; xref: GENATLAS:TDP1 ; xref: HGNC:18884 ; xref: ENSEMBL:ENSG00000042088 ; xref: REACTOME:Q9NUW8] OMIM:607250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 EXACT SCAN1 Recessive mitochondrial ataxic syndrome MIRAS MIRAS Orphanet ID- 12565 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G11.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521] EXACT MIRAS Autosomal dominant cerebellar ataxia type 1 ADCA1 ADCAI Autosomal dominant cerebellar ataxia type I Cerebellar plus syndrome ADCA1 ADCAI Autosomal dominant cerebellar ataxia type I Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 12566 ICD10:G11.8 Cerebellar plus syndrome EXACT ADCAI EXACT ADCA1 EXACT Autosomal dominant cerebellar ataxia type I EXACT Cerebellar plus syndrome Spinocerebellar ataxia type 7 Autosomal dominant spinocerebellar ataxia type 7 Cerebellar syndrome - pigmentary maculopathy SCA7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G11.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 Autosomal dominant spinocerebellar ataxia type 7 Cerebellar syndrome - pigmentary maculopathy OMIM:164500 Gene [OrphaNum:118934 ; Name:Ataxin 7 ; Symbol:ATXN7 ; xref: GENATLAS:ATXN7 ; xref: HGNC:10560 ; xref: OMIM:607640 ; xref: UNIPROTKB/SWISSPROT:O15265 ; xref: ENSEMBL:ENSG00000163635] Orphanet ID- 12567 SCA7 EXACT Autosomal dominant spinocerebellar ataxia type 7 EXACT SCA7 EXACT Cerebellar syndrome - pigmentary maculopathy Autosomal dominant cerebellar ataxia type 3 ADCA3 ADCAIII Autosomal dominant cerebellar ataxia type III Pure cerebellar syndrome - mild pyramidal signs Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 ADCA3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G11.8 Autosomal dominant cerebellar ataxia type III ADCAIII Pure cerebellar syndrome - mild pyramidal signs Orphanet ID- 12568 EXACT Pure cerebellar syndrome - mild pyramidal signs EXACT Autosomal dominant cerebellar ataxia type III EXACT ADCA3 EXACT ADCAIII Autosomal dominant cerebellar ataxia type 4 ADCA4 ADCAIV Autosomal dominant cerebellar ataxia type IV ICD10:G11.8 Orphanet ID- 12569 ADCAIV Autosomal dominant cerebellar ataxia type IV ADCA4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 EXACT ADCA4 EXACT Autosomal dominant cerebellar ataxia type IV EXACT ADCAIV Anonychia congenita totalis Orphanet ID- 12570 ICD10:Q84.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150 Acute hepatic porphyria Orphanet ID- 12578 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:612740 ICD10:E80.2 Achondroplasia - severe combined immunodeficiency Achondroplasia and Swiss-type agammaglobulinemia Immunodeficiency with short limb dwarfism Achondroplasia and Swiss-type agammaglobulinemia Immunodeficiency with short limb dwarfism Orphanet ID- 1258 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=935 OMIM:200900 ICD10:D82.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Immunodeficiency with short limb dwarfism EXACT Achondroplasia and Swiss-type agammaglobulinemia Hepatoerythropoietic porphyria HEP Orphanet ID- 12580 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 HEP Gene [OrphaNum:120429 ; Name:Uroporphyrinogen decarboxylase ; Symbol:UROD ; xref: HGNC:12591 ; xref: UNIPROTKB/SWISSPROT:P06132 ; xref: OMIM:613521 ; xref: GENATLAS:UROD ; xref: ENSEMBL:ENSG00000126088 ; xref: REACTOME:P06132] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:176100 ICD10:E80.2 EXACT HEP Chronic hepatic porphyria ICD10:E80.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 12581 Lissencephaly due to LIS1 mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 ICD10:Q04.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12582 Gene [OrphaNum:124062 ; Name:Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa ; Symbol:PAFAH1B1 ; xref: GENATLAS:PAFAH1B1 ; xref: HGNC:8574 ; xref: OMIM:601545 ; xref: UNIPROTKB/SWISSPROT:P43034 ; xref: REACTOME:P43034 ; xref: ENSEMBL:ENSG00000007168] OMIM:607432 Secondary short bowel syndrome Short bowel syndrome due to necrotizing enterocolitis Short bowel syndrome due to surgical resection Short bowel syndrome due to thrombosis Short bowel syndrome due to total or sub-total aganglionosis Short bowel syndrome due to trauma Short bowel syndrome due to volvulus Short bowel syndrome due to surgical resection Short bowel syndrome due to necrotizing enterocolitis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95427 Orphanet ID- 12586 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Short bowel syndrome due to total or sub-total aganglionosis Short bowel syndrome due to volvulus Short bowel syndrome due to thrombosis Short bowel syndrome due to trauma EXACT Short bowel syndrome due to necrotizing enterocolitis EXACT Short bowel syndrome due to total or sub-total aganglionosis EXACT Short bowel syndrome due to trauma EXACT Short bowel syndrome due to volvulus EXACT Short bowel syndrome due to surgical resection EXACT Short bowel syndrome due to thrombosis CDG syndrome type IIh CDG syndrome type 2h CDG2H Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h Congenital disorder of glycosylation type IIh ICD10:E77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 Orphanet ID- 12587 Gene [OrphaNum:123357 ; Name:Component of oligomeric golgi complex 8 ; Symbol:COG8 ; xref: GENATLAS:COG8 ; xref: HGNC:18623 ; xref: OMIM:606979 ; xref: UNIPROTKB/SWISSPROT:Q96MW5 ; xref: ENSEMBL:ENSG00000213380] Congenital disorder of glycosylation type 2h prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; CDG2H Congenital disorder of glycosylation type IIh OMIM:611182 CDG syndrome type 2h Carbohydrate deficient glycoprotein syndrome type IIh EXACT Carbohydrate deficient glycoprotein syndrome type IIh EXACT CDG syndrome type 2h EXACT CDG2H EXACT Congenital disorder of glycosylation type 2h EXACT Congenital disorder of glycosylation type IIh Familial angioma serpiginosum prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive; Orphanet ID- 12588 OMIM:106050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429 OMIM:300652 ICD10:L81.7 Congenital tracheomalacia Congenital major airway collapse Congenital major airway collapse Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 Orphanet ID- 12589 ICD10:Q32.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Congenital major airway collapse Oxoglutaricaciduria Alpha-ketoglutarate dehydrogenase deficiency Orphanet ID- 1259 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:123986 ; Name:Oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) ; Symbol:OGDH ; xref: GENATLAS:OGDH ; xref: HGNC:8124 ; xref: OMIM:613022 ; xref: UNIPROTKB/SWISSPROT:Q02218 ; xref: ENSEMBL:ENSG00000105953 ; xref: REACTOME:Q02218] OMIM:203740 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 ICD10:E88.8 Alpha-ketoglutarate dehydrogenase deficiency EXACT Alpha-ketoglutarate dehydrogenase deficiency Autosomal recessive cerebellar ataxia - blindness - deafness SCAR3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; SCAR3 ICD10:G11.1 OMIM:271250 Orphanet ID- 12592 EXACT SCAR3 Autosomal recessive cerebellar ataxia - saccadic intrusion SCAR4 SCASI Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; SCAR4 Orphanet ID- 12593 OMIM:607317 ICD10:G11.1 SCASI EXACT SCASI EXACT SCAR4 Monosomy 22q11 CATCH 22 Conotruncal anomalies face syndrome DiGeorge sequence DiGeorge syndrome Microdeletion 22q11 Sedlackova syndrome Shprintzen syndrome Velocardiofacial syndrome Orphanet ID- 126 Gene [OrphaNum:159910 ; Name:Mitogen-activated protein kinase 1 ; Symbol:MAPK1 ; xref: GENATLAS:MAPK1 ; xref: HGNC:6871 ; xref: OMIM:176948 ; xref: UNIPROTKB/SWISSPROT:P28482 ; xref: ENSEMBL:ENSG00000100030 ; xref: REACTOME:P28482] Velocardiofacial syndrome Sedlackova syndrome OMIM:188400 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:119016 ; Name:Breakpoint cluster region ; Symbol:BCR ; xref: ENSEMBL:ENSG00000186716 ; xref: REACTOME:P11274 ; xref: GENATLAS:BCR ; xref: HGNC:1014 ; xref: OMIM:151410 ; xref: UNIPROTKB/SWISSPROT:P11274] DiGeorge sequence Microdeletion 22q11 DiGeorge syndrome Gene [OrphaNum:121435 ; Name:Armadillo repeat gene deletes in velocardiofacial syndrome ; Symbol:ARVCF ; xref: GENATLAS:ARVCF ; xref: HGNC:728 ; xref: OMIM:602269 ; xref: UNIPROTKB/SWISSPROT:O00192 ; xref: ENSEMBL:ENSG00000099889] OMIM:274210 Gene [OrphaNum:119953 ; Name:T-box 1 ; Symbol:TBX1 ; xref: GENATLAS:TBX1 ; xref: HGNC:11592 ; xref: OMIM:602054 ; xref: UNIPROTKB/SWISSPROT:O43435 ; xref: ENSEMBL:ENSG00000184058] Gene [OrphaNum:286557 ; Name:HIR histone cell cycle regulation defective homolog A (S. cerevisiae) ; Symbol:HIRA ; xref: ENSEMBL:ENSG00000100084 ; xref: HGNC:4916 ; xref: OMIM:600237 ; xref: GENATLAS:HIRA ; xref: UNIPROTKB/SWISSPROT:P54198] Conotruncal anomalies face syndrome Shprintzen syndrome CATCH 22 Gene [OrphaNum:159084 ; Name:Ubiquitin fusion degradation 1 like ; Symbol:UFD1L ; xref: GENATLAS:UFD1L ; xref: HGNC:12520 ; xref: OMIM:601754 ; xref: UNIPROTKB/SWISSPROT:Q92890 ; xref: ENSEMBL:ENSG00000070010] OMIM:192430 ICD10:D82.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 EXACT Sedlackova syndrome EXACT DiGeorge syndrome EXACT DiGeorge sequence EXACT Conotruncal anomalies face syndrome EXACT Microdeletion 22q11 EXACT CATCH 22 EXACT Velocardiofacial syndrome EXACT Shprintzen syndrome 3-hydroxyisobutyric aciduria ICD10:E71.1 OMIM:236795 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939 Orphanet ID- 1260 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E87.2 Ethylmalonic aciduria prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 1261 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=942 ICD10:E71.1 Nonacquired pituitary hormone deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12612 Combined pituitary hormone deficiencies, genetic forms Familial congenital hypopituitarism Multiple pituitary hormone deficiencies, genetic forms OMIM:182230 ICD10:E23.0 OMIM:613986 Gene [OrphaNum:118051 ; Name:PROP paired-like homeobox 1 ; Symbol:PROP1 ; xref: GENATLAS:PROP1 ; xref: HGNC:9455 ; xref: OMIM:601538 ; xref: UNIPROTKB/SWISSPROT:O75360 ; xref: ENSEMBL:ENSG00000175325] Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047] prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; OMIM:262600 Gene [OrphaNum:117948 ; Name:POU class 1 homeobox 1 ; Symbol:POU1F1 ; xref: GENATLAS:POU1F1 ; xref: HGNC:9210 ; xref: OMIM:173110 ; xref: UNIPROTKB/SWISSPROT:P28069 ; xref: ENSEMBL:ENSG00000064835] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 Familial congenital hypopituitarism Gene [OrphaNum:122398 ; Name:HESX homeobox 1 ; Symbol:HESX1 ; xref: GENATLAS:HESX1 ; xref: HGNC:4877 ; xref: OMIM:601802 ; xref: UNIPROTKB/SWISSPROT:Q9UBX0 ; xref: ENSEMBL:ENSG00000163666] Multiple pituitary hormone deficiencies, genetic forms Gene [OrphaNum:124040 ; Name:Orthodenticle homeobox 2 ; Symbol:OTX2 ; xref: GENATLAS:OTX2 ; xref: HGNC:8522 ; xref: OMIM:600037 ; xref: UNIPROTKB/SWISSPROT:P32243 ; xref: ENSEMBL:ENSG00000165588] Orphanet ID- 12618 OMIM:613038 EXACT Familial congenital hypopituitarism EXACT Multiple pituitary hormone deficiencies, genetic forms Disease associated with nonacquired combined pituitary hormone deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495 Orphanet ID- 12619 Pituitary stalk interruption syndrome Ectopic neurohypophysis PSIS Ectopic neurohypophysis Gene [OrphaNum:122398 ; Name:HESX homeobox 1 ; Symbol:HESX1 ; xref: GENATLAS:HESX1 ; xref: HGNC:4877 ; xref: OMIM:601802 ; xref: UNIPROTKB/SWISSPROT:Q9UBX0 ; xref: ENSEMBL:ENSG00000163666] Gene [OrphaNum:138383 ; Name:LIM homeobox 4 ; Symbol:LHX4 ; xref: HGNC:21734 ; xref: OMIM:602146 ; xref: UNIPROTKB/SWISSPROT:Q969G2 ; xref: GENATLAS:LHX4 ; xref: ENSEMBL:ENSG00000121454] Orphanet ID- 12620 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Sporadic; Inheritance- Unknown; PSIS ICD10:E23.6 EXACT PSIS EXACT Ectopic neurohypophysis Acquired pituitary hormone deficiency Orphanet ID- 12626 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95502 Pituitary hormone deficiency from tumoral origin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12627 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95503 Pituitary hormone deficiency from meningeal origin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95505 Orphanet ID- 12629 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Vitamin B12-unresponsive methylmalonic acidemia Methylmalonyl-Coenzyme A mutase deficiency Vitamin B12-unresponsive methylmalonic aciduria Methylmalonyl-Coenzyme A mutase deficiency Vitamin B12-unresponsive methylmalonic aciduria Gene [OrphaNum:181982 ; Name:Methylmalonyl CoA epimerase ; Symbol:MCEE ; xref: ENSEMBL:ENSG00000124370 ; xref: GENATLAS:MCEE ; xref: HGNC:16732 ; xref: OMIM:608419 ; xref: UNIPROTKB/SWISSPROT:Q96PE7 ; xref: REACTOME:Q96PE7] ICD10:E71.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:251120 Orphanet ID- 1263 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 EXACT Methylmalonyl-Coenzyme A mutase deficiency EXACT Vitamin B12-unresponsive methylmalonic aciduria Primary hypophysitis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95506 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12630 Adenohypophysitis Anterior pituitary hypophysitis Anterior pituitary hypophysitis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95512 Orphanet ID- 12636 ICD10:E23.6 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Anterior pituitary hypophysitis Panhypophysitis Infundibulo-panhypophysitis Infundibulo-panhypophysitis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95513 Orphanet ID- 12637 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E23.6 EXACT Infundibulo-panhypophysitis Pituitary hormone defiency from vascular origin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95611 Orphanet ID- 12639 Pituitary apoplexy prevalence- No data available; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95613 Orphanet ID- 12640 Pituitary hormone deficiency secondary to a granulomatous disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12643 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95617 Pituitary hormone deficiency secondary to storage disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12644 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95618 Iatrogenic or traumatic pituitary deficiency Orphanet ID- 12645 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95619 Acrocephalosyndactyly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=946 Orphanet ID- 1265 Idiopathic acquired central diabetes insipidus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95626 ICD10:E23.2 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Orphanet ID- 12650 Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency OMIM:201910 ICD10:E25.0 Gene [OrphaNum:120981 ; Name:Cytochrome P450, family 21, subfamily A, polypeptide 2 ; Symbol:CYP21A2 ; xref: GENATLAS:CYP21A2 ; xref: HGNC:2600 ; xref: UNIPROTKB/SWISSPROT:P08686 ; xref: OMIM:613815 ; xref: ENSEMBL:ENSG00000231852 ; xref: REACTOME:P08686] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95698 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12653 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia due to cytochrome POR deficiency Orphanet ID- 12654 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital adrenal hyperplasia due to cytochrome POR deficiency Gene [OrphaNum:117944 ; Name:P450 (cytochrome) oxidoreductase ; Symbol:POR ; xref: GENATLAS:POR ; xref: HGNC:9208 ; xref: OMIM:124015 ; xref: UNIPROTKB/SWISSPROT:P16435 ; xref: ENSEMBL:ENSG00000127948] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 OMIM:613571 ICD10:E25.0 EXACT Congenital adrenal hyperplasia due to cytochrome POR deficiency Familial adrenal hypoplasia Familial adrenal hypoplasia, miniature type Familial adrenal hypoplasia, miniature type OMIM:202150 ICD10:E27.1 Orphanet ID- 12655 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 OMIM:240200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Familial adrenal hypoplasia, miniature type Cytomegalic congenital adrenal hypoplasia X-linked congenital adrenal hypoplasia X-linked congenital adrenal hypoplasia Orphanet ID- 12657 Gene [OrphaNum:123902 ; Name:Nuclear receptor subfamily 0, group B, member 1 ; Symbol:NR0B1 ; xref: GENATLAS:NR0B1 ; xref: HGNC:7960 ; xref: OMIM:300473 ; xref: UNIPROTKB/SWISSPROT:P51843 ; xref: IUPHAR:635 ; xref: ENSEMBL:ENSG00000169297 ; xref: REACTOME:P51843] OMIM:202155 OMIM:300200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:E27.1 EXACT X-linked congenital adrenal hypoplasia Severe hypospadias Scrotal or penoscrotal hypospadias prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12661 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 Scrotal or penoscrotal hypospadias EXACT Scrotal or penoscrotal hypospadias Isolated micropenis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707 Orphanet ID- 12662 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Precocious puberty Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95708 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12663 Non-acquired premature ovarian failure Orphanet ID- 12665 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95710 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital hypothyroidism due to developmental anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711 Orphanet ID- 12666 Thyroid ectopia ICD10:E03.1 Orphanet ID- 12667 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712 prevalence- 1-5 / 10 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:218700 Athyreosis OMIM:225250 Gene [OrphaNum:121895 ; Name:Forkhead box E1 (thyroid transcription factor 2) ; Symbol:FOXE1 ; xref: GENATLAS:FOXE1 ; xref: HGNC:3806 ; xref: OMIM:602617 ; xref: UNIPROTKB/SWISSPROT:O00358 ; xref: ENSEMBL:ENSG00000178919] Gene [OrphaNum:124103 ; Name:Paired box 8 ; Symbol:PAX8 ; xref: GENATLAS:PAX8 ; xref: HGNC:8622 ; xref: OMIM:167415 ; xref: UNIPROTKB/SWISSPROT:Q06710 ; xref: ENSEMBL:ENSG00000125618] Gene [OrphaNum:123797 ; Name:NK2 transcription factor related, locus 5 (Drosophila) ; Symbol:NKX2-5 ; xref: GENATLAS:NKX2-5 ; xref: HGNC:2488 ; xref: OMIM:600584 ; xref: UNIPROTKB/SWISSPROT:P52952 ; xref: ENSEMBL:ENSG00000183072] prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:156077 ; Name:NK2 homeobox 1 ; Symbol:NKX2-1 ; xref: ENSEMBL:ENSG00000136352 ; xref: HGNC:11825 ; xref: OMIM:600635 ; xref: UNIPROTKB/SWISSPROT:P43699 ; xref: GENATLAS:NKX2-1] Orphanet ID- 12668 ICD10:E03.1 Gene [OrphaNum:120320 ; Name:Thyroid stimulating hormone receptor ; Symbol:TSHR ; xref: GENATLAS:TSHR ; xref: HGNC:12373 ; xref: OMIM:603372 ; xref: UNIPROTKB/SWISSPROT:P16473 ; xref: IUPHAR:255 ; xref: ENSEMBL:ENSG00000165409 ; xref: REACTOME:P16473] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713 OMIM:218700 Primary congenital hypothyroidism without thyroid developmental anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12669 Acrocraniofacial dysostosis Kaplan-Plauchu-Fitch syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:201050 Kaplan-Plauchu-Fitch syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949 Orphanet ID- 1267 ICD10:Q87.0 EXACT Kaplan-Plauchu-Fitch syndrome Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12670 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95715 ICD10:P72.2 Familial thyroid dyshormonogenesis Thyroid dyshormonogenesis Orphanet ID- 12671 prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:274500 OMIM:607200 Thyroid dyshormonogenesis Gene [OrphaNum:168179 ; Name:Dual oxidase maturation factor 2 ; Symbol:DUOXA2 ; xref: GENATLAS:DUOXA2 ; xref: HGNC:32698 ; xref: UNIPROTKB/SWISSPROT:Q1HG44 ; xref: ENSEMBL:ENSG00000140274 ; xref: OMIM:612772] OMIM:274700 Gene [OrphaNum:168347 ; Name:Thyroglobulin ; Symbol:TG ; xref: GENATLAS:TG ; xref: HGNC:11764 ; xref: OMIM:188450 ; xref: UNIPROTKB/SWISSPROT:Q9UNY3 ; xref: ENSEMBL:ENSG00000042832] OMIM:274800 Gene [OrphaNum:121233 ; Name:Dual oxidase 2 ; Symbol:DUOX2 ; xref: GENATLAS:DUOX2 ; xref: HGNC:13273 ; xref: OMIM:606759 ; xref: UNIPROTKB/SWISSPROT:Q9NRD8 ; xref: ENSEMBL:ENSG00000140279] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 OMIM:274900 Gene [OrphaNum:120233 ; Name:Thyroid peroxidase ; Symbol:TPO ; xref: GENATLAS:TPO ; xref: HGNC:12015 ; xref: OMIM:606765 ; xref: UNIPROTKB/SWISSPROT:P07202 ; xref: ENSEMBL:ENSG00000115705 ; xref: REACTOME:P07202] Gene [OrphaNum:119700 ; Name:Solute carrier family 5 (sodium iodide symporter), member 5 ; Symbol:SLC5A5 ; xref: GENATLAS:SLC5A5 ; xref: HGNC:11040 ; xref: OMIM:601843 ; xref: UNIPROTKB/SWISSPROT:Q92911 ; xref: ENSEMBL:ENSG00000105641 ; xref: REACTOME:Q92911] Gene [OrphaNum:201101 ; Name:Iodotyrosine deiodinase ; Symbol:IYD ; xref: REACTOME:Q6PHW0 ; xref: ENSEMBL:ENSG00000009765 ; xref: GENATLAS:IYD ; xref: HGNC:21071 ; xref: OMIM:612025 ; xref: UNIPROTKB/SWISSPROT:Q6PHW0] OMIM:274400 EXACT Thyroid dyshormonogenesis Idiopathic congenital hypothyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:E03.1 Orphanet ID- 12672 Thyroid hemiagenesis OMIM:218700 Orphanet ID- 12674 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719 ICD10:E03.1 prevalence- 1-5 / 10 000; AgeOfOnset- null; AgeOfDeath-null; Thyroid hypoplasia Orphanet ID- 12675 Gene [OrphaNum:123797 ; Name:NK2 transcription factor related, locus 5 (Drosophila) ; Symbol:NKX2-5 ; xref: GENATLAS:NKX2-5 ; xref: HGNC:2488 ; xref: OMIM:600584 ; xref: UNIPROTKB/SWISSPROT:P52952 ; xref: ENSEMBL:ENSG00000183072] Gene [OrphaNum:121895 ; Name:Forkhead box E1 (thyroid transcription factor 2) ; Symbol:FOXE1 ; xref: GENATLAS:FOXE1 ; xref: HGNC:3806 ; xref: OMIM:602617 ; xref: UNIPROTKB/SWISSPROT:O00358 ; xref: ENSEMBL:ENSG00000178919] Gene [OrphaNum:124103 ; Name:Paired box 8 ; Symbol:PAX8 ; xref: GENATLAS:PAX8 ; xref: HGNC:8622 ; xref: OMIM:167415 ; xref: UNIPROTKB/SWISSPROT:Q06710 ; xref: ENSEMBL:ENSG00000125618] Gene [OrphaNum:120320 ; Name:Thyroid stimulating hormone receptor ; Symbol:TSHR ; xref: GENATLAS:TSHR ; xref: HGNC:12373 ; xref: OMIM:603372 ; xref: UNIPROTKB/SWISSPROT:P16473 ; xref: IUPHAR:255 ; xref: ENSEMBL:ENSG00000165409 ; xref: REACTOME:P16473] Gene [OrphaNum:156077 ; Name:NK2 homeobox 1 ; Symbol:NKX2-1 ; xref: ENSEMBL:ENSG00000136352 ; xref: HGNC:11825 ; xref: OMIM:600635 ; xref: UNIPROTKB/SWISSPROT:P43699 ; xref: GENATLAS:NKX2-1] prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720 ICD10:E03.1 OMIM:218700 OMIM:225250 Tetrasomy 21 Isochromosome 21 Orphanet ID- 12679 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055 Isochromosome 21 ICD10:Q99.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Isochromosome 21 Acrodermatitis enteropathica, zinc deficiency type Orphanet ID- 1268 Gene [OrphaNum:119482 ; Name:Solute carrier family 39 (zinc transporter), member 4 ; Symbol:SLC39A4 ; xref: ENSEMBL:ENSG00000147804 ; xref: REACTOME:Q6P5W5 ; xref: GENATLAS:SLC39A4 ; xref: HGNC:17129 ; xref: OMIM:607059 ; xref: UNIPROTKB/SWISSPROT:Q6P5W5] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:201100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 ICD10:E83.2 Mosaic trisomy 4 ICD10:Q92.1 Orphanet ID- 12683 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mosaic trisomy 5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060 ICD10:Q92.1 Orphanet ID- 12684 Mosaic trisomy 8 Warkany syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Warkany syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061 ICD10:Q92.1 Orphanet ID- 12685 EXACT Warkany syndrome Mosaic trisomy 10 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12687 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063 Acrodysostosis Acrodysplasia Arkless-Graham syndrome Maroteaux-Malamut syndrome Gene [OrphaNum:299630 ; Name:Phosphodiesterase 4D, cAMP-specific ; Symbol:PDE4D ; xref: GENATLAS:PDE4D ; xref: HGNC:8783 ; xref: OMIM:600129 ; xref: UNIPROTKB/SWISSPROT:Q08499] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:101800 Arkless-Graham syndrome ICD10:Q78.8 Gene [OrphaNum:118010 ; Name:Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) ; Symbol:PRKAR1A ; xref: GENATLAS:PRKAR1A ; xref: HGNC:9388 ; xref: OMIM:188830 ; xref: UNIPROTKB/SWISSPROT:P10644 ; xref: ENSEMBL:ENSG00000108946 ; xref: REACTOME:P10644] Maroteaux-Malamut syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 Acrodysplasia Orphanet ID- 1269 OMIM:614613 ICD10:Q87.0 EXACT Acrodysplasia EXACT Arkless-Graham syndrome EXACT Maroteaux-Malamut syndrome Mosaic trisomy 22 ICD10:Q92.1 Orphanet ID- 12692 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068 Distal trisomy 1p36 Distal duplication 1p36 Telomeric duplication 1p36 Trisomy 1pter Telomeric duplication 1p36 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069 Trisomy 1pter ICD10:Q92.3 Distal duplication 1p36 Orphanet ID- 12693 EXACT Trisomy 1pter EXACT Telomeric duplication 1p36 EXACT Distal duplication 1p36 Distal trisomy 2p Distal duplication 2p Telomeric duplication 2p Trisomy 2pter Telomeric duplication 2p prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Distal duplication 2p Trisomy 2pter Orphanet ID- 12694 ICD10:Q92.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070 EXACT Distal duplication 2p EXACT Telomeric duplication 2p EXACT Trisomy 2pter Distal trisomy 3p Distal duplication 3p Telomeric duplication 3p Trisomy 3pter ICD10:Q92.3 Distal duplication 3p prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071 Orphanet ID- 12695 Trisomy 3pter Telomeric duplication 3p EXACT Trisomy 3pter EXACT Telomeric duplication 3p EXACT Distal duplication 3p Distal trisomy 4p Distal duplication 4p Telomeric duplication 4p Trisomy 4pter Trisomy 4pter Orphanet ID- 12696 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 4p ICD10:Q92.3 Distal duplication 4p EXACT Distal duplication 4p EXACT Telomeric duplication 4p EXACT Trisomy 4pter Distal trisomy 7p Distal duplication 7p Telomeric duplication 7p Trisomy 7pter Orphanet ID- 12698 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074 ICD10:Q92.3 Distal duplication 7p prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Trisomy 7pter Telomeric duplication 7p EXACT Telomeric duplication 7p EXACT Trisomy 7pter EXACT Distal duplication 7p Peripheral dysostosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1795 ICD10:Q74.8 Orphanet ID- 1270 OMIM:170700 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Beckwith-Wiedemann syndrome due to 11p15 microduplication OMIM:130650 ICD10:Q87.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12700 Distal trisomy 16p Distal duplication 16p Telomeric duplication 16p Trisomy 16pter Telomeric duplication 16p Distal duplication 16p Trisomy 16pter Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078 Orphanet ID- 12702 ICD10:Q92.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Distal duplication 16p EXACT Telomeric duplication 16p EXACT Trisomy 16pter 8p inverted duplication/deletion Orphanet ID- 12716 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092 Distal trisomy 2q Distal duplication 2q Telomeric duplication 2q Trisomy 2qter Distal duplication 2q Trisomy 2qter Orphanet ID- 12718 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094 ICD10:Q92.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 2q EXACT Distal duplication 2q EXACT Telomeric duplication 2q EXACT Trisomy 2qter 3q26 microduplication syndrome Cornelia de Lange-like syndrome Dup(3)(q26) Trisomie 3q26 Trisomy 3q26 Orphanet ID- 12719 Dup(3)(q26) prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Trisomie 3q26 Cornelia de Lange-like syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095 ICD10:Q92.3 Trisomy 3q26 EXACT Trisomie 3q26 EXACT Trisomy 3q26 EXACT Cornelia de Lange-like syndrome EXACT Dup(3)(q26) Acrofacial dysostosis, Weyers type Curry-Hall syndrome Weyers acrodental dysostosis Weyers acrofacial dysostosis Gene [OrphaNum:121639 ; Name:Ellis van Creveld syndrome 2 (limbin) ; Symbol:EVC2 ; xref: GENATLAS:EVC2 ; xref: HGNC:19747 ; xref: OMIM:607261 ; xref: UNIPROTKB/SWISSPROT:Q86UK5 ; xref: ENSEMBL:ENSG00000173040] Gene [OrphaNum:121636 ; Name:Ellis van Creveld syndrome ; Symbol:EVC ; xref: GENATLAS:EVC ; xref: HGNC:3497 ; xref: OMIM:604831 ; xref: UNIPROTKB/SWISSPROT:P57679 ; xref: ENSEMBL:ENSG00000072840] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Weyers acrofacial dysostosis ICD10:Q75.4 Curry-Hall syndrome Orphanet ID- 1272 Weyers acrodental dysostosis OMIM:193530 EXACT Weyers acrofacial dysostosis EXACT Curry-Hall syndrome EXACT Weyers acrodental dysostosis Distal trisomy 4q Distal duplication 4q Telomeric duplication 4q Trisomy 4qter prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12720 Distal duplication 4q Trisomy 4qter Telomeric duplication 4q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096 EXACT Telomeric duplication 4q EXACT Distal duplication 4q EXACT Trisomy 4qter Distal trisomy 5q Distal duplication 5q Telomeric duplication 5q Trisomy 5qter Trisomy 5qter Orphanet ID- 12721 Telomeric duplication 5q ICD10:Q92.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Distal duplication 5q EXACT Distal duplication 5q EXACT Trisomy 5qter EXACT Telomeric duplication 5q Distal trisomy 6q Distal duplication 6q Telomeric duplication 6q Trisomy 6qter ICD10:Q92.3 Orphanet ID- 12722 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 6q Trisomy 6qter Distal duplication 6q EXACT Distal duplication 6q EXACT Trisomy 6qter EXACT Telomeric duplication 6q Distal trisomy 8q Distal duplication 8q Telomeric duplication 8q Trisomy 8qter Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100 Trisomy 8qter Distal duplication 8q Orphanet ID- 12724 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 8q ICD10:Q92.3 EXACT Telomeric duplication 8q EXACT Distal duplication 8q EXACT Trisomy 8qter Distal trisomy 9q Distal duplication 9q Telomeric duplication 9q Trisomy 9qter Trisomy 9qter Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101 Distal duplication 9q Orphanet ID- 12725 ICD10:Q92.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 9q EXACT Telomeric duplication 9q EXACT Distal duplication 9q EXACT Trisomy 9qter Distal trisomy 10q Distal duplication 10q Telomeric duplication 10q Trisomy 10qter Orphanet ID- 12726 ICD10:Q92.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102 Trisomy 10qter Distal duplication 10q Telomeric duplication 10q EXACT Telomeric duplication 10q EXACT Distal duplication 10q EXACT Trisomy 10qter Distal trisomy 11q Distal duplication 11q Telomeric duplication 11q Trisomy 11qter prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Trisomy 11qter Orphanet ID- 12727 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103 Telomeric duplication 11q ICD10:Q92.3 Distal duplication 11q EXACT Trisomy 11qter EXACT Telomeric duplication 11q EXACT Distal duplication 11q Distal trisomy 13q Distal duplication 13q Telomeric duplication 13q Trisomy 13qter Distal duplication 13q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 13q Trisomy 13qter Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105 Orphanet ID- 12729 ICD10:Q92.3 EXACT Trisomy 13qter EXACT Telomeric duplication 13q EXACT Distal duplication 13q Distal trisomy 16q Distal duplication 16q Telomeric duplication 16q Trisomy 16qter Orphanet ID- 12730 Telomeric duplication 16q ICD10:Q92.3 Trisomy 16qter Distal duplication 16q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106 EXACT Telomeric duplication 16q EXACT Trisomy 16qter EXACT Distal duplication 16q Distal trisomy 20q Distal duplication 20q Telomeric duplication 20q Trisomy 20qter prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.3 Orphanet ID- 12731 Distal duplication 20q Trisomy 20qter Telomeric duplication 20q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107 EXACT Telomeric duplication 20q EXACT Trisomy 20qter EXACT Distal duplication 20q Distal trisomy 22q Distal duplication 22q Telomeric duplication 22q Trisomy 22qter Telomeric duplication 22q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109 ICD10:Q92.3 Distal duplication 22q Orphanet ID- 12733 Trisomy 22qter EXACT Telomeric duplication 22q EXACT Distal duplication 22q EXACT Trisomy 22qter Non-distal trisomy 9q Non-distal duplication 9q Non-telomeric trisomy 9q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Non-distal duplication 9q Orphanet ID- 12736 ICD10:Q92.3 Non-telomeric trisomy 9q EXACT Non-telomeric trisomy 9q EXACT Non-distal duplication 9q Acromesomelic dysplasia, Brahimi-Bacha type Orphanet ID- 1274 ICD10:Q77.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=953 7q11.23 microduplication syndrome Dup(7)(q11.23) Monosomy 7q11.23 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Monosomy 7q11.23 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121 Dup(7)(q11.23) ICD10:Q92.3 OMIM:609757 Orphanet ID- 12745 EXACT Monosomy 7q11.23 EXACT Dup(7)(q11.23) Monosomy 22 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12747 ICD10:Q93.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123 Distal monosomy 6p 6p subtelomere deletion syndrome 6p25 microdeletion syndrome Distal deletion 6p Monosomy 6p25 ICD10:Q93.5 Monosomy 6p25 OMIM:612582 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Distal deletion 6p 6p subtelomere deletion syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 6p25 microdeletion syndrome Orphanet ID- 12749 EXACT 6p subtelomere deletion syndrome EXACT Monosomy 6p25 EXACT 6p25 microdeletion syndrome EXACT Distal deletion 6p Distal monosomy 7p Distal deletion 7p Monosomy 7pter Telomeric deletion 7p Monosomy 7pter ICD10:Q93.5 Distal deletion 7p Orphanet ID- 12750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96126 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric deletion 7p EXACT Telomeric deletion 7p EXACT Monosomy 7pter EXACT Distal deletion 7p Distal monosomy 19p13.3 Distal deletion 19p Telomeric deletion 19p prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96129 Orphanet ID- 12753 Telomeric deletion 19p ICD10:Q93.5 Distal deletion 19p EXACT Telomeric deletion 19p EXACT Distal deletion 19p Acroosteolysis dominant type Acro-dento-osteo-dysplasia Hajdu-Cheney syndrome OMIM:102400 Acro-dento-osteo-dysplasia ICD10:M89.5 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Hajdu-Cheney syndrome OMIM:102500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 Gene [OrphaNum:123858 ; Name:Notch 2 ; Symbol:NOTCH2 ; xref: GENATLAS:NOTCH2 ; xref: HGNC:7882 ; xref: OMIM:600275 ; xref: UNIPROTKB/SWISSPROT:Q04721 ; xref: ENSEMBL:ENSG00000134250 ; xref: REACTOME:Q04721] Orphanet ID- 1276 EXACT Hajdu-Cheney syndrome EXACT Acro-dento-osteo-dysplasia Non-distal monosomy 7p Non-distal deletion 7p Non-telomeric monosomy 7p Non-telomeric monosomy 7p prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96136 Non-distal deletion 7p Orphanet ID- 12760 EXACT Non-distal deletion 7p EXACT Non-telomeric monosomy 7p Distal monosomy 4q Distal deletion 4q Monosomy 4qter Telomeric deletion 4q Orphanet ID- 12769 ICD10:Q93.5 Monosomy 4qter Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96145 Distal deletion 4q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric deletion 4q EXACT Monosomy 4qter EXACT Telomeric deletion 4q EXACT Distal deletion 4q Acro-pectoro-renal dysplasia ICD10:Q87.8 Orphanet ID- 1277 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=956 Kleefstra syndrome due to monosomy 9q34 9q subtelomeric deletion syndrome Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to 9q34 microdeletion Kleefstra syndrome due to del(9)(q34) 9q subtelomeric deletion syndrome Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to del(9)(q34) ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 OMIM:610253 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Kleefstra syndrome due to 9q34 microdeletion Gene [OrphaNum:226051 ; Name:Euchromatic histone-lysine N-methyltransferase 1 ; Symbol:EHMT1 ; xref: GENATLAS:EHMT1 ; xref: HGNC:24650 ; xref: OMIM:607001 ; xref: UNIPROTKB/SWISSPROT:Q9H9B1 ; xref: ENSEMBL:ENSG00000181090] Orphanet ID- 12771 EXACT 9q subtelomeric deletion syndrome EXACT Kleefstra syndrome due to 9q34 microdeletion EXACT Kleefstra syndrome due to 9q subtelomeric deletion EXACT Kleefstra syndrome due to del(9)(q34) Distal monosomy 10q Distal deletion 10q Monosomy 10qter Telomeric deletion 10q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148 OMIM:609625 Distal deletion 10q Orphanet ID- 12772 Monosomy 10qter prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q93.5 Telomeric deletion 10q EXACT Distal deletion 10q EXACT Monosomy 10qter EXACT Telomeric deletion 10q Distal monosomy 12q Distal deletion 12q Monosomy 12qter Telomeric deletion 12q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96149 ICD10:Q93.5 Orphanet ID- 12773 Monosomy 12qter Distal deletion 12q Telomeric deletion 12q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Telomeric deletion 12q EXACT Monosomy 12qter EXACT Distal deletion 12q Distal monosomy 14q Distal deletion 14q Telomeric deletion 14q ICD10:Q93.5 Telomeric deletion 14q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Distal deletion 14q Orphanet ID- 12774 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150 EXACT Telomeric deletion 14q EXACT Distal deletion 14q Distal monosomy 20q Distal deletion 20q Monosomy 20qter Telomeric deletion 20q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96152 Orphanet ID- 12776 Distal deletion 20q Monosomy 20qter Telomeric deletion 20q prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.5 EXACT Distal deletion 20q EXACT Monosomy 20qter EXACT Telomeric deletion 20q Acropectorovertebral dysplasia F syndrome F syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:102510 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957 Orphanet ID- 1278 ICD10:Q78.8 ICD10:Q68.1 EXACT F syndrome Non-distal monosomy 12q Non-distal deletion 12q Non-telomeric monosomy 12q ICD10:Q93.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96160 Orphanet ID- 12784 Non-telomeric monosomy 12q Non-distal deletion 12q EXACT Non-telomeric monosomy 12q EXACT Non-distal deletion 12q Non-distal monosomy 20q Non-distal deletion 20q Non-telomeric monosomy 20q Orphanet ID- 12788 Non-distal deletion 20q ICD10:Q93.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96164 Non-telomeric monosomy 20q EXACT Non-telomeric monosomy 20q EXACT Non-distal deletion 20q Acro-renal-mandibular syndrome Split hand/split foot - mandibular hypoplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1279 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958 Split hand/split foot - mandibular hypoplasia OMIM:200980 ICD10:Q87.8 EXACT Split hand/split foot - mandibular hypoplasia Recombinant 8 syndrome Duplication 8q/deletion 8p Rec(8) syndrome Recombinant chromosome 8 syndrome San Luis Valley syndrome Duplication 8q/deletion 8p San Luis Valley syndrome Orphanet ID- 12791 Recombinant chromosome 8 syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167 OMIM:179613 Rec(8) syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Duplication 8q/deletion 8p EXACT Rec(8) syndrome EXACT Recombinant chromosome 8 syndrome EXACT San Luis Valley syndrome Monosomy 13q34 Del(13)(q34) Distal deletion 13q34 Subtelomeric deletion 13q34 ICD10:Q93.5 Distal deletion 13q34 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Del(13)(q34) Orphanet ID- 12792 Subtelomeric deletion 13q34 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168 EXACT Del(13)(q34) EXACT Distal deletion 13q34 EXACT Subtelomeric deletion 13q34 17q21.31 microdeletion syndrome Del(17)(q21.31) Monosomy 17q21.31 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 Gene [OrphaNum:303739 ; Name:KAT8 regulatory NSL complex subunit 1 ; Symbol:KANSL1 ; xref: HGNC:24565 ; xref: OMIM:612452 ; xref: GENATLAS:KANSL1 ; xref: UNIPROTKB/SWISSPROT:Q7Z3B3] Del(17)(q21.31) Orphanet ID- 12793 OMIM:610443 Monosomy 17q21.31 ICD10:Q93.5 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Del(17)(q21.31) EXACT Monosomy 17q21.31 Emanuel syndrome Supernumerary der(22) syndrome der(22)t(11;22) syndrome OMIM:609029 der(22)t(11;22) syndrome Supernumerary der(22) syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12794 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170 EXACT Supernumerary der(22) syndrome EXACT der(22)t(11;22) syndrome Ring chromosome 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171 Orphanet ID- 12795 Ring chromosome 3 Orphanet ID- 12796 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172 ICD10:Q93.2 Ring chromosome 9 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173 Orphanet ID- 12797 Ring chromosome 11 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175 ICD10:Q93.2 Orphanet ID- 12799 Acro-renal-ocular syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959 Orphanet ID- 1280 OMIM:607323 Gene [OrphaNum:118456 ; Name:Sal-like 4 (Drosophila) ; Symbol:SALL4 ; xref: GENATLAS:SALL4 ; xref: HGNC:15924 ; xref: OMIM:607343 ; xref: UNIPROTKB/SWISSPROT:Q9UJQ4 ; xref: ENSEMBL:ENSG00000101115] ICD10:Q87.8 Ring chromosome 13 Orphanet ID- 12800 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176 Ring chromosome 15 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177 ICD10:Q93.2 Orphanet ID- 12801 Ring chromosome 16 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178 ICD10:Q93.2 Orphanet ID- 12802 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Maternal uniparental disomy of chromosome 2 UPD(2)mat ICD10:Q99.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179 UPD(2)mat prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12803 EXACT UPD(2)mat Maternal uniparental disomy of chromosome 4 UPD(4)mat ICD10:Q99.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12804 UPD(4)mat EXACT UPD(4)mat Maternal uniparental disomy of chromosome 6 UPD(6)mat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12805 UPD(6)mat ICD10:Q99.8 EXACT UPD(6)mat Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 UPD(7)mat ICD10:Q87.1 Orphanet ID- 12806 OMIM:180860 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 UPD(7)mat prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(7)mat Maternal uniparental disomy of chromosome 9 UPD(9)mat Orphanet ID- 12807 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96183 ICD10:Q99.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; UPD(9)mat EXACT UPD(9)mat Maternal uniparental disomy of chromosome 14 UPD(14)mat ICD10:Q99.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; UPD(14)mat Gene [OrphaNum:159533 ; Name:Delta-like 1 homolog (Drosophila) ; Symbol:DLK1 ; xref: GENATLAS:DLK1 ; xref: HGNC:2907 ; xref: OMIM:176290 ; xref: UNIPROTKB/SWISSPROT:P80370 ; xref: ENSEMBL:ENSG00000185559 ; xref: REACTOME:P80370] Orphanet ID- 12808 Gene [OrphaNum:159161 ; Name:Retrotransposon-like 1 ; Symbol:RTL1 ; xref: GENATLAS:RTL1 ; xref: HGNC:14665 ; xref: OMIM:611896 ; xref: UNIPROTKB/SWISSPROT:A6NKG5 ; xref: ENSEMBL:ENSG00000254656] Gene [OrphaNum:159158 ; Name:Maternally expressed 3 ; Symbol:MEG3 ; xref: GENATLAS:MEG3 ; xref: HGNC:14575 ; xref: OMIM:605636 ; xref: UNIPROTKB/SWISSPROT:Q9UI56 ; xref: ENSEMBL:ENSG00000214548] EXACT UPD(14)mat Maternal uniparental disomy of chromosome 16 UPD(16)mat Orphanet ID- 12809 ICD10:Q99.8 UPD(16)mat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(16)mat Maternal uniparental disomy of chromosome 20 UPD(20)mat Orphanet ID- 12810 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186 ICD10:Q99.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; UPD(20)mat EXACT UPD(20)mat Maternal uniparental disomy of chromosome 21 UPD(21)mat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187 Orphanet ID- 12811 UPD(21)mat ICD10:Q99.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(21)mat Maternal uniparental disomy of chromosome 22 UPD(22)mat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188 ICD10:Q99.8 Orphanet ID- 12812 UPD(22)mat prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(22)mat Paternal uniparental disomy of chromosome 5 UPD(5)pat prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190 Orphanet ID- 12814 UPD(5)pat ICD10:Q99.8 EXACT UPD(5)pat Paternal uniparental disomy of chromosome 6 UPD(6)pat Orphanet ID- 12815 Gene [OrphaNum:159813 ; Name:Pleiomorphic adenoma gene-like 1 ; Symbol:PLAGL1 ; xref: GENATLAS:PLAGL1 ; xref: HGNC:9046 ; xref: OMIM:603044 ; xref: UNIPROTKB/SWISSPROT:Q9UM63 ; xref: ENSEMBL:ENSG00000118495] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q99.8 Gene [OrphaNum:159723 ; Name:Hydatidiform mole associated and imprinted ; Symbol:HYMAI ; xref: GENATLAS:HYMAI ; xref: HGNC:5326 ; xref: OMIM:606546] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191 UPD(6)pat EXACT UPD(6)pat Paternal uniparental disomy of chromosome 7 UPD(7)pat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192 Orphanet ID- 12816 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; UPD(7)pat ICD10:Q99.8 EXACT UPD(7)pat Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Mosaic paternal uniparental disomy of chromosome 11 UPD(11)pat prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q87.3 UPD(11)pat Orphanet ID- 12817 OMIM:130650 Mosaic paternal uniparental disomy of chromosome 11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 EXACT UPD(11)pat EXACT Mosaic paternal uniparental disomy of chromosome 11 Paternal uniparental disomy of chromosome 20 UPD(20)pat UPD(20)pat ICD10:Q99.8 Orphanet ID- 12818 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96194 EXACT UPD(20)pat Paternal uniparental disomy of chromosome 21 UPD(21)pat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96195 Orphanet ID- 12819 UPD(21)pat ICD10:Q99.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(21)pat X small rings Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12825 Rare genetic deafness prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12826 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96210 Cushing disease Corticotroph pituitary adenoma Pituitary dependent Cushing syndrome Pituitary dependent Cushing syndrome Corticotroph pituitary adenoma ICD10:E24.0 Orphanet ID- 12827 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96253 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; OMIM:219090 EXACT Pituitary dependent Cushing syndrome EXACT Corticotroph pituitary adenoma Familial prolactinoma ICD10:D35.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96254 Gene [OrphaNum:200951 ; Name:Aryl hydrocarbon receptor interacting protein ; Symbol:AIP ; xref: ENSEMBL:ENSG00000110711 ; xref: GENATLAS:AIP ; xref: HGNC:358 ; xref: OMIM:605555 ; xref: UNIPROTKB/SWISSPROT:O00170] Orphanet ID- 12828 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Somatotroph adenoma Orphanet ID- 12829 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96256 Acromegaly - cutis verticis gyrata - corneal leukoma Orphanet ID- 1283 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=964 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:102100 ICD10:E22.0 48,XXXY syndrome 48, XXXY Orphanet ID- 12832 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 ICD10:Q98.1 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; 48, XXXY EXACT 48, XXXY 49,XXXXY syndrome 49, XXXXY prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Sporadic; ICD10:Q98.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 49, XXXXY Orphanet ID- 12833 EXACT 49, XXXXY LH resistance due to complete LH receptor inactivation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12834 ICD10:Q56.1 LH resistance due to partial LH receptor inactivation ICD10:Q56.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12835 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 Isolated partial vaginal agenesis Absence of vagina Congenital absence of vagina Absence of vagina Congenital absence of vagina ICD10:Q52.0 Orphanet ID- 12838 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Absence of vagina EXACT Congenital absence of vagina Polyploidy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96321 Orphanet ID- 12839 Acromegaloid facial appearance syndrome OMIM:102150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=965 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.0 Orphanet ID- 1284 Isochromosome Y Orphanet ID- 12840 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96325 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare otorhinolaryngological malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333 Orphanet ID- 12842 Paternal uniparental disomy of chromosome 14 UPD(14)pat ICD10:Q99.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:159158 ; Name:Maternally expressed 3 ; Symbol:MEG3 ; xref: GENATLAS:MEG3 ; xref: HGNC:14575 ; xref: OMIM:605636 ; xref: UNIPROTKB/SWISSPROT:Q9UI56 ; xref: ENSEMBL:ENSG00000214548] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 UPD(14)pat OMIM:608149 Gene [OrphaNum:159161 ; Name:Retrotransposon-like 1 ; Symbol:RTL1 ; xref: GENATLAS:RTL1 ; xref: HGNC:14665 ; xref: OMIM:611896 ; xref: UNIPROTKB/SWISSPROT:A6NKG5 ; xref: ENSEMBL:ENSG00000254656] Orphanet ID- 12843 Gene [OrphaNum:159533 ; Name:Delta-like 1 homolog (Drosophila) ; Symbol:DLK1 ; xref: GENATLAS:DLK1 ; xref: HGNC:2907 ; xref: OMIM:176290 ; xref: UNIPROTKB/SWISSPROT:P80370 ; xref: ENSEMBL:ENSG00000185559 ; xref: REACTOME:P80370] EXACT UPD(14)pat Anorectal malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12846 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346 Acromegaloid facies - hypertrichosis ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=966 Orphanet ID- 1285 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Distal arthrogryposis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97120 Orphanet ID- 12853 Brown-Vialetto-van Laere syndrome Sensorineural hearing loss - pontobulbar palsy Sensorineural hearing loss - pontobulbar palsy Orphanet ID- 12856 Gene [OrphaNum:227053 ; Name:Solute carrier family 52, riboflavin transporter, member 3 ; Symbol:SLC52A3 ; xref: ENSEMBL:ENSG00000101276 ; xref: HGNC:16187 ; xref: GENATLAS:C20orf54 ; xref: OMIM:613350 ; xref: UNIPROTKB/SWISSPROT:Q9NQ40] OMIM:614707 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 Gene [OrphaNum:304678 ; Name:Solute carrier family 52, riboflavin transporter, member 2 ; Symbol:SLC52A2 ; xref: HGNC:30224 ; xref: GENATLAS:GPR172A ; xref: OMIM:607882 ; xref: UNIPROTKB/SWISSPROT:Q9HAB3] OMIM:211530 ICD10:G12.2 EXACT Sensorineural hearing loss - pontobulbar palsy Ligneous conjunctivitis Conjunctivitis lignosa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97231 Gene [OrphaNum:117886 ; Name:Plasminogen ; Symbol:PLG ; xref: GENATLAS:PLG ; xref: HGNC:9071 ; xref: OMIM:173350 ; xref: UNIPROTKB/SWISSPROT:P00747 ; xref: ENSEMBL:ENSG00000122194 ; xref: REACTOME:P00747] OMIM:217090 Orphanet ID- 12858 Conjunctivitis lignosa prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; EXACT Conjunctivitis lignosa Fingerprint body myopathy OMIM:305550 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232 ICD10:G71.2 Orphanet ID- 12859 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Myopathy due to phosphoglycerate mutase deficiency Muscle phosphoglycerate mutase deficiency Orphanet ID- 12860 Gene [OrphaNum:167879 ; Name:Phosphoglycerate mutase 2 (muscle) ; Symbol:PGAM2 ; xref: GENATLAS:PGAM2 ; xref: HGNC:8889 ; xref: UNIPROTKB/SWISSPROT:P15259 ; xref: OMIM:612931 ; xref: ENSEMBL:ENSG00000164708 ; xref: REACTOME:P15259] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:261670 Muscle phosphoglycerate mutase deficiency ICD10:E74.0 EXACT Muscle phosphoglycerate mutase deficiency Rippling muscle disease ICD10:G71.8 OMIM:600332 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119194 ; Name:Caveolin 3 ; Symbol:CAV3 ; xref: GENATLAS:CAV3 ; xref: HGNC:1529 ; xref: OMIM:601253 ; xref: UNIPROTKB/SWISSPROT:P56539 ; xref: ENSEMBL:ENSG00000182533] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 Orphanet ID- 12861 OMIM:606072 Reducing body myopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239 OMIM:300718 OMIM:300717 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Orphanet ID- 12862 ICD10:G71.2 Gene [OrphaNum:140044 ; Name:Four and a half LIM domains 1 ; Symbol:FHL1 ; xref: UNIPROTKB/SWISSPROT:Q13642 ; xref: GENATLAS:FHL1 ; xref: HGNC:3702 ; xref: OMIM:300163 ; xref: ENSEMBL:ENSG00000022267] Zebra body myopathy ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240 Orphanet ID- 12863 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Congenital muscular dystrophy prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 12865 ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242 Rigid spine syndrome Gene [OrphaNum:118596 ; Name:Selenoprotein N, 1 ; Symbol:SEPN1 ; xref: GENATLAS:SEPN1 ; xref: HGNC:15999 ; xref: OMIM:606210 ; xref: UNIPROTKB/SWISSPROT:Q9NZV5 ; xref: ENSEMBL:ENSG00000162430] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:602771 Orphanet ID- 12866 ICD10:G71.2 Congenital myopathy ICD10:G71.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:255300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245 Orphanet ID- 12867 Pontocerebellar hypoplasia type 3 Cerebellar atrophy with progressive microcephaly PCH with optic atrophy PCH without dyskinesia Orphanet ID- 12868 OMIM:608027 PCH without dyskinesia ICD10:Q04.3 Cerebellar atrophy with progressive microcephaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 PCH with optic atrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT PCH without dyskinesia EXACT PCH with optic atrophy EXACT Cerebellar atrophy with progressive microcephaly Acromesomelic dysplasia, Hunter-Thomson type Acromesomelic dwarfism prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 1287 Acromesomelic dwarfism ICD10:Q78.8 OMIM:201250 Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 EXACT Acromesomelic dwarfism Acromesomelic dysplasia, Maroteaux type ICD10:Q77.8 Gene [OrphaNum:123897 ; Name:Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) ; Symbol:NPR2 ; xref: GENATLAS:NPR2 ; xref: HGNC:7944 ; xref: OMIM:108961 ; xref: UNIPROTKB/SWISSPROT:P20594 ; xref: ENSEMBL:ENSG00000159899] Orphanet ID- 1288 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 OMIM:602875 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Carney-Stratakis syndrome Carney dyad Carney-Stratakis dyad GIST-paraganglioma dyad Paraganglioma and gastric stromal sarcoma Orphanet ID- 12880 OMIM:606864 Paraganglioma and gastric stromal sarcoma ICD10:D44.8 Gene [OrphaNum:118558 ; Name:Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa ; Symbol:SDHC ; xref: GENATLAS:SDHC ; xref: HGNC:10682 ; xref: OMIM:602413 ; xref: UNIPROTKB/SWISSPROT:Q99643 ; xref: ENSEMBL:ENSG00000143252 ; xref: REACTOME:Q99643] GIST-paraganglioma dyad prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Carney-Stratakis dyad Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 Gene [OrphaNum:118554 ; Name:Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ; Symbol:SDHB ; xref: GENATLAS:SDHB ; xref: HGNC:10681 ; xref: OMIM:185470 ; xref: UNIPROTKB/SWISSPROT:P21912 ; xref: ENSEMBL:ENSG00000117118 ; xref: REACTOME:P21912] Carney dyad Gene [OrphaNum:118561 ; Name:Succinate dehydrogenase complex, subunit D, integral membrane protein ; Symbol:SDHD ; xref: GENATLAS:SDHD ; xref: HGNC:10683 ; xref: OMIM:602690 ; xref: UNIPROTKB/SWISSPROT:O14521 ; xref: ENSEMBL:ENSG00000204370 ; xref: REACTOME:O14521] EXACT Paraganglioma and gastric stromal sarcoma EXACT Carney dyad EXACT Carney-Stratakis dyad EXACT GIST-paraganglioma dyad Papillary thyroid carcinoma with renal papillary neoplasia PTC-RCC Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290 OMIM:605642 PTC-RCC ICD10:C73 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12883 EXACT PTC-RCC Bohring-Opitz syndrome BOS syndrome Bohring syndrome C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome Oberklaid-Danks syndrome Orphanet ID- 12888 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; BOS syndrome Opitz trigonocephaly-like syndrome C-like syndrome Gene [OrphaNum:281482 ; Name:Additional sex combs like 1 (Drosophila) ; Symbol:ASXL1 ; xref: ENSEMBL:ENSG00000171456 ; xref: HGNC:18318 ; xref: OMIM:612990 ; xref: GENATLAS:ASXL1 ; xref: UNIPROTKB/SWISSPROT:Q8IXJ9] Bohring syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 OMIM:605039 EXACT Oberklaid-Danks syndrome EXACT BOS syndrome EXACT C-like syndrome EXACT Opitz trigonocephaly-like syndrome EXACT Bohring syndrome Acromicric dysplasia Orphanet ID- 1289 Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] ICD10:Q77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:102370 Kienbock disease Aseptic necrosis of the lunate bone Lunatomalacia Osteochondritis of the lunate bone Osteochondrosis of the lunate bone Osteochondrosis of the lunate bone Lunatomalacia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Aseptic necrosis of the lunate bone Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97332 Orphanet ID- 12890 Osteochondritis of the lunate bone EXACT Lunatomalacia EXACT Osteochondrosis of the lunate bone EXACT Osteochondritis of the lunate bone EXACT Aseptic necrosis of the lunate bone Osgood-Schlatter disease Aseptic necrosis of the tibial tubercle Osteochondritis of the tibial tubercle Osteochondrosis of the tibial tubercle Osteochondritis of the tibial tubercle Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97335 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12891 Aseptic necrosis of the tibial tubercle Osteochondrosis of the tibial tubercle EXACT Osteochondritis of the tibial tubercle EXACT Osteochondrosis of the tibial tubercle EXACT Aseptic necrosis of the tibial tubercle Panner disease Aseptic necrosis of the capital humerus Osteochondrosis of the capital humerus Osteochondrosis of the capital humerus Orphanet ID- 12892 Aseptic necrosis of the capital humerus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97336 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; EXACT Aseptic necrosis of the capital humerus EXACT Osteochondrosis of the capital humerus Sinding-Larsen-Johansson disease Aseptic necrosis of patella Osteochondrosis of patella Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97337 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Aseptic necrosis of patella Orphanet ID- 12893 Osteochondrosis of patella EXACT Aseptic necrosis of patella EXACT Osteochondrosis of patella Dural sinus malformation Cranial dural arteriovenous fistula Cranial dural arteriovenous malformations Orphanet ID- 12895 Cranial dural arteriovenous fistula prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q28.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339 Cranial dural arteriovenous malformations EXACT Cranial dural arteriovenous malformations EXACT Cranial dural arteriovenous fistula Hunter-McAlpine craniosynostosis prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:601379 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340 Orphanet ID- 12896 Hereditary sensory and autonomic neuropathy type 2 Autosomal recessive sensory radicular neuropathy HSAN 2 Neurogenic acroosteolysis OMIM:613115 Neurogenic acroosteolysis Autosomal recessive sensory radicular neuropathy Gene [OrphaNum:218033 ; Name:Family with sequence similarity 134, member B ; Symbol:FAM134B ; xref: HGNC:25964 ; xref: GENATLAS:FAM134B ; xref: ENSEMBL:ENSG00000154153 ; xref: OMIM:613114 ; xref: UNIPROTKB/SWISSPROT:Q9H6L5] ICD10:G60.8 Gene [OrphaNum:279771 ; Name:Kinesin family member 1A ; Symbol:KIF1A ; xref: ENSEMBL:ENSG00000130294 ; xref: HGNC:888 ; xref: OMIM:601255 ; xref: GENATLAS:KIF1A ; xref: UNIPROTKB/SWISSPROT:Q12756] Gene [OrphaNum:120531 ; Name:WNK lysine deficient protein kinase 1 ; Symbol:WNK1 ; xref: GENATLAS:WNK1 ; xref: HGNC:14540 ; xref: OMIM:605232 ; xref: UNIPROTKB/SWISSPROT:Q9H4A3 ; xref: ENSEMBL:ENSG00000060237] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970 HSAN 2 OMIM:614213 OMIM:201300 Orphanet ID- 1290 EXACT Neurogenic acroosteolysis EXACT HSAN 2 EXACT Autosomal recessive sensory radicular neuropathy Familial dementia, British type Orphanet ID- 12900 Gene [OrphaNum:122711 ; Name:Integral membrane protein 2B ; Symbol:ITM2B ; xref: GENATLAS:ITM2B ; xref: HGNC:6174 ; xref: OMIM:603904 ; xref: UNIPROTKB/SWISSPROT:Q9Y287 ; xref: REACTOME:Q9Y287 ; xref: ENSEMBL:ENSG00000136156] OMIM:176500 ICD10:G31.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 Familial dementia, Danish type OMIM:117300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 Orphanet ID- 12901 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122711 ; Name:Integral membrane protein 2B ; Symbol:ITM2B ; xref: GENATLAS:ITM2B ; xref: HGNC:6174 ; xref: OMIM:603904 ; xref: UNIPROTKB/SWISSPROT:Q9Y287 ; xref: REACTOME:Q9Y287 ; xref: ENSEMBL:ENSG00000136156] ICD10:G31.0 Acrorenal syndrome OMIM:102520 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 ICD10:Q87.2 OMIM:201310 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1291 Robinow syndrome Acral dysostosis with facial and genital abnormalities Fetal face syndrome Robinow dwarfism Robinow-Silverman-Smith syndrome mesomelic dwarfism-small genitalia syndrome OMIM:180700 Robinow-Silverman-Smith syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:Q87.1 mesomelic dwarfism-small genitalia syndrome Orphanet ID- 12911 Acral dysostosis with facial and genital abnormalities Fetal face syndrome OMIM:268310 Robinow dwarfism EXACT mesomelic dwarfism-small genitalia syndrome EXACT Acral dysostosis with facial and genital abnormalities EXACT Robinow dwarfism EXACT Fetal face syndrome EXACT Robinow-Silverman-Smith syndrome Unilateral renal hypoplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12912 ICD10:Q60.3 Bilateral renal hypoplasia Orphanet ID- 12913 ICD10:Q60.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 Unilateral multicystic renal dysplasia OMIM:601331 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:292175 ; Name:Bicaudal C homolog 1 (Drosophila) ; Symbol:BICC1 ; xref: OMIM:614295 ; xref: GENATLAS:BICC1 ; xref: UNIPROTKB/SWISSPROT:Q9H694 ; xref: HGNC:19351] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 ICD10:Q61.4 Orphanet ID- 12914 Bilateral multicystic renal dysplasia ICD10:Q61.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601331 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 OMIM:143400 Orphanet ID- 12915 Gene [OrphaNum:292175 ; Name:Bicaudal C homolog 1 (Drosophila) ; Symbol:BICC1 ; xref: OMIM:614295 ; xref: GENATLAS:BICC1 ; xref: UNIPROTKB/SWISSPROT:Q9H694 ; xref: HGNC:19351] Multiloculated renal cyst Multilocular cyst of the kidney Multilocular renal cyst Multilocular cyst of the kidney Orphanet ID- 12917 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97366 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Multilocular renal cyst EXACT Multilocular renal cyst EXACT Multilocular cyst of the kidney Renal tubular dysgenesis due to twin-twin transfusion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367 ICD10:Q63.8 Orphanet ID- 12918 Renal tubular dysgenesis drugs-related prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12919 ICD10:Q63.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368 Hereditary continuous muscle fiber activity Isaacs-Mertens syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Isaacs-Mertens syndrome OMIM:137200 Orphanet ID- 1292 OMIM:160120 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 Gene [OrphaNum:122756 ; Name:Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) ; Symbol:KCNA1 ; xref: GENATLAS:KCNA1 ; xref: HGNC:6218 ; xref: OMIM:176260 ; xref: UNIPROTKB/SWISSPROT:Q09470 ; xref: IUPHAR:538 ; xref: ENSEMBL:ENSG00000111262 ; xref: REACTOME:Q09470] ICD10:G71.1 EXACT Isaacs-Mertens syndrome Renal tubular dysgenesis of genetic origin Gene [OrphaNum:138533 ; Name:Angiotensin II receptor, type 1 ; Symbol:AGTR1 ; xref: GENATLAS:AGTR1 ; xref: HGNC:336 ; xref: OMIM:106165 ; xref: UNIPROTKB/SWISSPROT:P30556 ; xref: IUPHAR:34 ; xref: ENSEMBL:ENSG00000144891 ; xref: REACTOME:P30556] OMIM:267430 Gene [OrphaNum:138530 ; Name:Renin ; Symbol:REN ; xref: GENATLAS:REN ; xref: HGNC:9958 ; xref: OMIM:179820 ; xref: UNIPROTKB/SWISSPROT:P00797 ; xref: ENSEMBL:ENSG00000143839] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 Gene [OrphaNum:117728 ; Name:Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 ; Symbol:ACE ; xref: GENATLAS:ACE ; xref: HGNC:2707 ; xref: OMIM:106180 ; xref: UNIPROTKB/SWISSPROT:P12821 ; xref: ENSEMBL:ENSG00000159640] ICD10:Q63.8 Orphanet ID- 12920 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119535 ; Name:Angiotensinogen (serpin peptidase inhibitor, clade A, member 8) ; Symbol:AGT ; xref: GENATLAS:AGT ; xref: HGNC:333 ; xref: OMIM:106150 ; xref: UNIPROTKB/SWISSPROT:P01019 ; xref: ENSEMBL:ENSG00000135744 ; xref: REACTOME:P01019] Ivemark syndrome Orphanet ID- 12922 ICD10:Q89.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:208530 Steroid-sensitive nephrotic syndrome without renal biopsy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12923 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97552 Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Orphanet ID- 12924 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97555 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital and infantile nephrotic syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12925 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97556 Chronic proteinuria with focal and segmental hyalinosis Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97557 Orphanet ID- 12926 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome Idiopathic membranous glomerulonephritis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97560 Orphanet ID- 12927 OMIM:614692 Congenital absence/hypoplasia of fingers excluding thumb, unilateral Adactylia of hand, unilateral OMIM:102650 Orphanet ID- 1293 Adactylia of hand, unilateral prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; ICD10:Q71.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973 EXACT Adactylia of hand, unilateral Pseudohypoparathyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12935 Neonatal membranous glomerulopathy with maternal NEP deficiency Orphanet ID- 12939 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97668 Adams-Oliver syndrome AOS Congenital scalp defects with distal limb anomalies Congenital scalp defects with distal limb reduction anomalies Limb, scalp and skull defects prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Congenital scalp defects with distal limb reduction anomalies ICD10:Q87.2 Gene [OrphaNum:279606 ; Name:Dedicator of cytokinesis 6 ; Symbol:DOCK6 ; xref: REACTOME:Q96HP0 ; xref: ENSEMBL:ENSG00000130158 ; xref: HGNC:19189 ; xref: GENATLAS:DOCK6 ; xref: UNIPROTKB/SWISSPROT:Q96HP0 ; xref: OMIM:614194] Gene [OrphaNum:267088 ; Name:Rho GTPase activating protein 31 ; Symbol:ARHGAP31 ; xref: HGNC:29216 ; xref: OMIM:610911 ; xref: GENATLAS:ARHGAP31 ; xref: ENSEMBL:ENSG00000031081 ; xref: REACTOME:Q2M1Z3 ; xref: UNIPROTKB/SWISSPROT:Q2M1Z3] OMIM:614219 OMIM:100300 Orphanet ID- 1294 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 AOS Limb, scalp and skull defects Congenital scalp defects with distal limb anomalies EXACT Congenital scalp defects with distal limb anomalies EXACT Congenital scalp defects with distal limb reduction anomalies EXACT AOS EXACT Limb, scalp and skull defects Maternal uniparental disomy of chromosome 13 UPD(13)mat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678 ICD10:Q99.8 UPD(13)mat Orphanet ID- 12942 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(13)mat 17q11 microdeletion syndrome Del(17)(q11) Monosomy 17q11 NF1 microdeletion syndrome Neurofibromatosis type 1 microdeletion syndrome Monosomy 17q11 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:140074 ; Name:Ring finger protein 135 ; Symbol:RNF135 ; xref: GENATLAS:RNF135 ; xref: HGNC:21158 ; xref: OMIM:611358 ; xref: UNIPROTKB/SWISSPROT:Q8IUD6 ; xref: ENSEMBL:ENSG00000181481 ; xref: REACTOME:Q8IUD6] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 Gene [OrphaNum:159228 ; Name:Suppressor of zeste 12 homolog (Drosophila) ; Symbol:SUZ12 ; xref: GENATLAS:SUZ12 ; xref: HGNC:17101 ; xref: OMIM:606245 ; xref: UNIPROTKB/SWISSPROT:Q15022 ; xref: ENSEMBL:ENSG00000178691] Del(17)(q11) OMIM:613675 Neurofibromatosis type 1 microdeletion syndrome ICD10:Q85.0 Orphanet ID- 12945 NF1 microdeletion syndrome Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712] ICD10:Q93.5 EXACT Del(17)(q11) EXACT Neurofibromatosis type 1 microdeletion syndrome EXACT NF1 microdeletion syndrome EXACT Monosomy 17q11 Peripheral resistance to thyroid hormones prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:609893 OMIM:614450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97927 Orphanet ID- 12947 Gene [OrphaNum:292134 ; Name:Thyroid hormone receptor, alpha ; Symbol:THRA ; xref: HGNC:11796 ; xref: OMIM:190120 ; xref: GENATLAS:THRA ; xref: UNIPROTKB/SWISSPROT:P10827] ICD10:E03.0 Gene [OrphaNum:120101 ; Name:Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) ; Symbol:THRB ; xref: GENATLAS:THRB ; xref: HGNC:11799 ; xref: OMIM:190160 ; xref: UNIPROTKB/SWISSPROT:P10828 ; xref: IUPHAR:589 ; xref: REACTOME:P10828 ; xref: ENSEMBL:ENSG00000151090] Adrenomyodystrophy Orphanet ID- 1296 OMIM:300270 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977 Gastroduodenal malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97944 Orphanet ID- 12963 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Intestinal malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97945 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 12964 ADULT syndrome Acro-Dermato-Ungual-Lacrimal-Tooth syndrome Pigment anomaly - ectrodactyly - hypodontia Propping Zerres syndrome Gene [OrphaNum:120207 ; Name:Tumor Protein p63 ; Symbol:TP63 ; xref: OMIM:603273 ; xref: UNIPROTKB/SWISSPROT:Q9H3D4 ; xref: GENATLAS:TP63 ; xref: HGNC:15979 ; xref: ENSEMBL:ENSG00000073282] OMIM:103285 Orphanet ID- 1297 Pigment anomaly - ectrodactyly - hypodontia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Propping Zerres syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 Acro-Dermato-Ungual-Lacrimal-Tooth syndrome ICD10:Q87.2 EXACT Acro-Dermato-Ungual-Lacrimal-Tooth syndrome EXACT Pigment anomaly - ectrodactyly - hypodontia EXACT Propping Zerres syndrome Internal carotid agenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981 Orphanet ID- 1299 ICD10:Q28.1 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Malformative disorder of sex development Orphanet ID- 12995 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97977 Fucosidosis Alpha-L-fucosidase deficiency Orphanet ID- 13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 Gene [OrphaNum:121963 ; Name:Fucosidase, alpha-L- 1, tissue ; Symbol:FUCA1 ; xref: GENATLAS:FUCA1 ; xref: HGNC:4006 ; xref: UNIPROTKB/SWISSPROT:P04066 ; xref: OMIM:612280 ; xref: ENSEMBL:ENSG00000179163] Alpha-L-fucosidase deficiency ICD10:E77.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:230000 EXACT Alpha-L-fucosidase deficiency Bilateral anorchia Congenital absent testes TRS Testicular regression syndrome Vanishing testes syndrome XY gonadal agenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 Testicular regression syndrome Vanishing testes syndrome XY gonadal agenesis prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:600171 Gene [OrphaNum:119865 ; Name:Sex determining region Y ; Symbol:SRY ; xref: GENATLAS:SRY ; xref: HGNC:11311 ; xref: OMIM:480000 ; xref: UNIPROTKB/SWISSPROT:Q05066 ; xref: ENSEMBL:ENSG00000184895] Orphanet ID- 1300 OMIM:273250 TRS Congenital absent testes ICD10:Q55.0 EXACT XY gonadal agenesis EXACT Vanishing testes syndrome EXACT Testicular regression syndrome EXACT TRS EXACT Congenital absent testes Absent tibia - polydactyly Orphanet ID- 1303 OMIM:188740 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypoglossia - hypodactyly Aglossia - adactylia Hanhart syndrome Jussieu syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:103300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 Hanhart syndrome Orphanet ID- 1304 Jussieu syndrome ICD10:Q87.2 Aglossia - adactylia EXACT Aglossia - adactylia EXACT Jussieu syndrome EXACT Hanhart syndrome Agnathia - holoprosencephaly - situs inversus prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; OMIM:202650 ICD10:Q04.2 ICD10:Q18.2 Gene [OrphaNum:270071 ; Name:paired related homeobox 1 ; Symbol:PRRX1 ; xref: ENSEMBL:ENSG00000116132 ; xref: HGNC:9142 ; xref: OMIM:167420 ; xref: UNIPROTKB/SWISSPROT:P54821 ; xref: GENATLAS:PRRX1] Orphanet ID- 1305 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 PAGOD syndrome Kennerknecht syndrome Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome OMIM:600908 Kennerknecht syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; OMIM:202660 Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 Orphanet ID- 1306 EXACT Kennerknecht syndrome EXACT Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome Rare genetic cardiac disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98054 Orphanet ID- 13072 Rare genetic renal disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13074 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98056 Aicardi-Goutieres syndrome Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid Gene [OrphaNum:201570 ; Name:SAM domain and HD domain 1 ; Symbol:SAMHD1 ; xref: ENSEMBL:ENSG00000101347 ; xref: GENATLAS:SAMHD1 ; xref: HGNC:15925 ; xref: OMIM:606754 ; xref: UNIPROTKB/SWISSPROT:Q9Y3Z3] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 OMIM:225750 OMIM:610181 ICD10:G31.8 Gene [OrphaNum:120255 ; Name:Three prime repair exonuclease 1 ; Symbol:TREX1 ; xref: GENATLAS:TREX1 ; xref: HGNC:12269 ; xref: OMIM:606609 ; xref: UNIPROTKB/SWISSPROT:Q9NSU2 ; xref: ENSEMBL:ENSG00000213689] Orphanet ID- 1309 Gene [OrphaNum:118340 ; Name:Ribonuclease H2, subunit C ; Symbol:RNASEH2C ; xref: GENATLAS:RNASEH2C ; xref: HGNC:24116 ; xref: OMIM:610330 ; xref: UNIPROTKB/SWISSPROT:Q8TDP1 ; xref: ENSEMBL:ENSG00000172922] Gene [OrphaNum:118335 ; Name:Ribonuclease H2, subunit B ; Symbol:RNASEH2B ; xref: GENATLAS:RNASEH2B ; xref: HGNC:25671 ; xref: OMIM:610326 ; xref: UNIPROTKB/SWISSPROT:Q5TBB1 ; xref: ENSEMBL:ENSG00000136104] OMIM:612952 OMIM:610329 Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid Encephalopathy with basal ganglia calcification prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:118329 ; Name:Ribonuclease H2, subunit A ; Symbol:RNASEH2A ; xref: GENATLAS:RNASEH2A ; xref: HGNC:18518 ; xref: OMIM:606034 ; xref: UNIPROTKB/SWISSPROT:O75792 ; xref: ENSEMBL:ENSG00000104889] OMIM:610333 EXACT Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid EXACT Encephalopathy with basal ganglia calcification Gonadal differentation disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13092 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98074 Mucopolysaccharidosis type 2 Hunter syndrome Iduronate 2-sulfatase deficiency OMIM:309900 Orphanet ID- 131 Iduronate 2-sulfatase deficiency ICD10:E76.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- X-linked recessive; Hunter syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 EXACT Hunter syndrome EXACT Iduronate 2-sulfatase deficiency Fetal akinesia deformation sequence Arthrogryposis multiplex congenita - pulmonary hypoplasia FADS Pena-Shokeir syndrome type 1 Pena-Shokeir syndrome type 1 ICD10:Q87.8 Gene [OrphaNum:118222 ; Name:Receptor-associated protein of the synapse ; Symbol:RAPSN ; xref: GENATLAS:RAPSN ; xref: HGNC:9863 ; xref: OMIM:601592 ; xref: UNIPROTKB/SWISSPROT:Q13702 ; xref: ENSEMBL:ENSG00000165917] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 FADS Gene [OrphaNum:121152 ; Name:Docking protein 7 ; Symbol:DOK7 ; xref: GENATLAS:DOK7 ; xref: HGNC:26594 ; xref: OMIM:610285 ; xref: UNIPROTKB/SWISSPROT:Q18PE1 ; xref: ENSEMBL:ENSG00000175920] Orphanet ID- 1310 OMIM:208150 Arthrogryposis multiplex congenita - pulmonary hypoplasia OMIM:300073 EXACT Arthrogryposis multiplex congenita - pulmonary hypoplasia EXACT FADS EXACT Pena-Shokeir syndrome type 1 46,XY disorder of sex development Orphanet ID- 13103 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive congenital cerebellar ataxia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 Orphanet ID- 13113 Autosomal recessive metabolic cerebellar ataxia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13114 Autosomal recessive cerebellar ataxia due to a DNA repair defect prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 Orphanet ID- 13115 Autosomal recessive degenerative and progressive cerebellar ataxia Orphanet ID- 13116 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 Autosomal recessive syndromic cerebellar ataxia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13117 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 2q37 microdeletion syndrome Albright hereditary osteodystrophy 3 Albright hereditary osteodystrophy-like syndrome Brachydactyly-intellectual deficit Del(2)(q37) Deletion 2q37 Deletion 2q37-qter Monosomy 2q37-qter prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 1313 Brachydactyly-intellectual deficit Albright hereditary osteodystrophy-like syndrome Gene [OrphaNum:238991 ; Name:Histone deacetylase 4 ; Symbol:HDAC4 ; xref: GENATLAS:HDAC4 ; xref: HGNC:14063 ; xref: ENSEMBL:ENSG00000068024 ; xref: REACTOME:P56524 ; xref: UNIPROTKB/SWISSPROT:P56524 ; xref: OMIM:605314] Albright hereditary osteodystrophy 3 OMIM:600430 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 Del(2)(q37) Monosomy 2q37-qter Deletion 2q37-qter Deletion 2q37 EXACT Del(2)(q37) EXACT Albright hereditary osteodystrophy 3 EXACT Monosomy 2q37-qter EXACT Brachydactyly-intellectual deficit EXACT Albright hereditary osteodystrophy-like syndrome EXACT Deletion 2q37 EXACT Deletion 2q37-qter Albright hereditary osteodystrophy ICD10:Q78.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:103580 Orphanet ID- 1314 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665 ICD10:E20.1 Autosomal anomaly Orphanet ID- 13145 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98127 Autosomal trisomy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98130 Orphanet ID- 13148 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Total autosomal trisomy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98131 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13149 Allan-Herndon-Dudley syndrome AHDS X-linked intellectual deficit - hypotonia X-linked intellectual deficit - hypotonia OMIM:300523 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- X-linked recessive; Gene [OrphaNum:118746 ; Name:Solute carrier family 16, member 2 (monocarboxylic acid transporter 8) ; Symbol:SLC16A2 ; xref: GENATLAS:SLC16A2 ; xref: HGNC:10923 ; xref: OMIM:300095 ; xref: UNIPROTKB/SWISSPROT:P36021 ; xref: ENSEMBL:ENSG00000147100] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 Orphanet ID- 1315 AHDS ICD10:E03.8 EXACT AHDS EXACT X-linked intellectual deficit - hypotonia Partial autosomal trisomy/tetrasomy Orphanet ID- 13150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98132 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Total autosomal monosomy Orphanet ID- 13159 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98141 Scalp defects - postaxial polydactyly OMIM:181250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 Orphanet ID- 1316 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Partial autosomal monosomy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98142 Orphanet ID- 13160 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal uniparental disomy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98152 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13170 Uniparental disomy of maternal origin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98153 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13171 Uniparental disomy of paternal origin Orphanet ID- 13172 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98154 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gonosomes anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98155 Orphanet ID- 13173 Gonosomes number anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98156 Orphanet ID- 13174 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gonosomes structural anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98157 Orphanet ID- 13175 Chromosome Y structural anomaly Orphanet ID- 13176 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98158 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Chromosome X structural anomaly Orphanet ID- 13177 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98159 Alopecia - contractures - dwarfism - intellectual deficit ICD10:Q87.8 Orphanet ID- 1318 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 OMIM:203550 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Mucopolysaccharidosis type 1 Alpha-L-iduronidase deficiency MPS1 Orphanet ID- 132 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; MPS1 Alpha-L-iduronidase deficiency ICD10:E76.0 EXACT MPS1 EXACT Alpha-L-iduronidase deficiency Alopecia - epilepsy - pyorrhea - intellectual deficit Alopecia - epilepsy - pyorrhea - mental subnormality Shokeir syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 Orphanet ID- 1320 Alopecia - epilepsy - pyorrhea - mental subnormality OMIM:104130 Shokeir syndrome EXACT Alopecia - epilepsy - pyorrhea - mental subnormality EXACT Shokeir syndrome Alopecia universalis Gene [OrphaNum:122495 ; Name:Hairless homolog (mouse) ; Symbol:HR ; xref: GENATLAS:HR ; xref: HGNC:5172 ; xref: OMIM:602302 ; xref: UNIPROTKB/SWISSPROT:O43593 ; xref: ENSEMBL:ENSG00000168453] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1321 ICD10:L63.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 OMIM:203655 Malformation syndrome with hamartosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98196 Orphanet ID- 13213 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Focal alopecia congenital megalencephaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1009 Orphanet ID- 1322 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:104110 Dystonia-plus syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98203 Orphanet ID- 13220 Heredodegenerative disease with dystonia as a major feature Orphanet ID- 13221 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98204 Autosomal dominant palmoplantar keratoderma and congenital alopecia PPK-CA, Stevanovic type Palmoplantar keratoderma and congenital alopecia, Stevanovic type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 Palmoplantar keratoderma and congenital alopecia, Stevanovic type PPK-CA, Stevanovic type OMIM:104100 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1323 EXACT PPK-CA, Stevanovic type EXACT Palmoplantar keratoderma and congenital alopecia, Stevanovic type Alopecia - hypogonadism - extrapyramidal disorder Devriendt-Legius-Fryns syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1011 Orphanet ID- 1324 Devriendt-Legius-Fryns syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Devriendt-Legius-Fryns syndrome Ehlers-Danlos syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249 Orphanet ID- 13266 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Alopecia - intellectual deficit - hypergonadotropic hypogonadism Devriendt-Vandenberghe-Fryns syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Devriendt-Vandenberghe-Fryns syndrome OMIM:601217 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 Orphanet ID- 1327 EXACT Devriendt-Vandenberghe-Fryns syndrome Neonatal epilepsy syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98257 Orphanet ID- 13274 Infantile epilepsy syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98258 Orphanet ID- 13275 Childhood-onset epilepsy syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98259 Orphanet ID- 13276 Adolescent-onset epilepsy syndrome Orphanet ID- 13277 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98260 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Progressive myoclonic epilepsy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13278 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261 Alstrom syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 Gene [OrphaNum:119632 ; Name:Alstrom syndrome 1 ; Symbol:ALMS1 ; xref: GENATLAS:ALMS1 ; xref: HGNC:428 ; xref: OMIM:606844 ; xref: UNIPROTKB/SWISSPROT:Q8TCU4 ; xref: REACTOME:Q8TCU4 ; xref: ENSEMBL:ENSG00000116127] ICD10:E66.0 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Autosomal recessive; ICD10:H35.5 OMIM:203800 Orphanet ID- 1328 Nonsyndromic obesity Orphanet ID- 13284 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Amaurosis - hypertrichosis Orphanet ID- 1329 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:204110 Ambras syndrome Hypertrichosis universalis congenita, Ambras type Orphanet ID- 1331 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 Hypertrichosis universalis congenita, Ambras type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:145701 EXACT Hypertrichosis universalis congenita, Ambras type Genetic lipodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305 Orphanet ID- 13322 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial partial lipodystrophy Orphanet ID- 13323 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Acquired lipodystrophy Orphanet ID- 13324 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98307 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive amelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1027 OMIM:601360 ICD10:Q73.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 1335 OMIM:104400 Amelo-onycho-hypohidrotic syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 Orphanet ID- 1336 OMIM:104570 Constitutional anemia due to iron metabolism disorder Orphanet ID- 13377 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98360 Constitutional sideroblastic anemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98362 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13379 Rare constitutional hemolytic anemia due to a red cell membrane anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98364 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13381 Stomatocytosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98365 Orphanet ID- 13382 Constitutional hemolytic anemia due to acanthocytosis Orphanet ID- 13383 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98366 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare constitutional hemolytic anemia due to an enzyme disorder Orphanet ID- 13386 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98369 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98370 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13387 Hemolytic anemia due to a disorder of glycolytic enzymes Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98372 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13389 Amelogenesis imperfecta - nephrocalcinosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 ICD10:E83.5 OMIM:204690 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:K00.5 Orphanet ID- 1339 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder Orphanet ID- 13391 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98374 Wilson disease Hepatolenticular degeneration ICD10:E83.0 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 OMIM:277900 Gene [OrphaNum:118882 ; Name:ATPase, Cu++ transporting, beta polypeptide ; Symbol:ATP7B ; xref: ENSEMBL:ENSG00000123191 ; xref: REACTOME:P35670 ; xref: GENATLAS:ATP7B ; xref: HGNC:870 ; xref: OMIM:606882 ; xref: UNIPROTKB/SWISSPROT:P35670] Hepatolenticular degeneration Orphanet ID- 134 EXACT Hepatolenticular degeneration Amniotic bands ICD10:Q79.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1034 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Orphanet ID- 1341 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98396 Orphanet ID- 13413 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria Ampola syndrome OMIM:249650 Gene [OrphaNum:159765 ; Name:Mercaptopyruvate sulfurtransferase ; Symbol:MPST ; xref: GENATLAS:MPST ; xref: HGNC:7223 ; xref: OMIM:602496 ; xref: UNIPROTKB/SWISSPROT:P25325 ; xref: ENSEMBL:ENSG00000128309] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1342 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 Ampola syndrome ICD10:E72.1 EXACT Ampola syndrome Constitutional megaloblastic anemia due to folate metabolism disorder Orphanet ID- 13425 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98408 Vitamin B12- and folate-independent constitutional megaloblastic anemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98415 Orphanet ID- 13432 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Red cell aplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98421 Orphanet ID- 13438 Arthrogryposis multiplex congenita Amyoplasia congenita Myodysplasia Myodysplasia OMIM:108110 Orphanet ID- 1344 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive; Amyoplasia congenita Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037 Gene [OrphaNum:159219 ; Name:Spectrin repeat containing, nuclear envelope 1 ; Symbol:SYNE1 ; xref: ENSEMBL:ENSG00000131018 ; xref: REACTOME:Q8NF91 ; xref: GENATLAS:SYNE1 ; xref: HGNC:17089 ; xref: OMIM:608441 ; xref: UNIPROTKB/SWISSPROT:Q8NF91] ICD10:Q74.3 EXACT Myodysplasia EXACT Amyoplasia congenita Secondary polycythemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428 Orphanet ID- 13445 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary combined deficiency of vitamin K-dependent clotting factors Hereditary combined deficiency of factors II, VII, IX and X Gene [OrphaNum:159472 ; Name:Vitamin K epoxide reductase complex, subunit 1 ; Symbol:VKORC1 ; xref: GENATLAS:VKORC1 ; xref: HGNC:23663 ; xref: OMIM:608547 ; xref: UNIPROTKB/SWISSPROT:Q9BQB6 ; xref: ENSEMBL:ENSG00000167397 ; xref: REACTOME:Q9BQB6] ICD10:D68.2 Hereditary combined deficiency of factors II, VII, IX and X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 Orphanet ID- 13451 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:277450 OMIM:607473 Gene [OrphaNum:122083 ; Name:Gamma-glutamyl carboxylase ; Symbol:GGCX ; xref: GENATLAS:GGCX ; xref: HGNC:4247 ; xref: OMIM:137167 ; xref: UNIPROTKB/SWISSPROT:P38435 ; xref: ENSEMBL:ENSG00000115486 ; xref: REACTOME:P38435] EXACT Hereditary combined deficiency of factors II, VII, IX and X Metaphyseal anadysplasia Maroteaux-Verloes-Stanescu syndrome Regressive metaphyseal dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:208342 ; Name:Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) ; Symbol:MMP9 ; xref: ENSEMBL:ENSG00000100985 ; xref: REACTOME:P14780 ; xref: GENATLAS:MMP9 ; xref: HGNC:7176 ; xref: OMIM:120361 ; xref: UNIPROTKB/SWISSPROT:P14780] Regressive metaphyseal dysplasia ICD10:Q78.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 Orphanet ID- 1346 Maroteaux-Verloes-Stanescu syndrome Gene [OrphaNum:123436 ; Name:Matrix metallopeptidase 13 (collagenase 3) ; Symbol:MMP13 ; xref: REACTOME:P45452 ; xref: GENATLAS:MMP13 ; xref: HGNC:7159 ; xref: OMIM:600108 ; xref: UNIPROTKB/SWISSPROT:P45452 ; xref: ENSEMBL:ENSG00000137745] OMIM:602111 OMIM:613073 EXACT Regressive metaphyseal dysplasia EXACT Maroteaux-Verloes-Stanescu syndrome Platelet storage pool disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98454 Orphanet ID- 13471 Alpha granule disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13472 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98455 Dense granule disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98456 Orphanet ID- 13473 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X-linked syndromic intellectual deficit Orphanet ID- 13481 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98464 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Muscular dystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98473 Orphanet ID- 13490 Metabolic myopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98486 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13503 Mosaic variegated aneuploidy syndrome Warburton-Anyane-Yeboa syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:270019 ; Name:centrosomal protein 57kDa ; Symbol:CEP57 ; xref: ENSEMBL:ENSG00000166037 ; xref: REACTOME:Q86XR8 ; xref: OMIM:607951 ; xref: HGNC:30794 ; xref: GENATLAS:CEP57 ; xref: UNIPROTKB/SWISSPROT:Q86XR8] OMIM:257300 Warburton-Anyane-Yeboa syndrome OMIM:614114 Gene [OrphaNum:119101 ; Name:BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) ; Symbol:BUB1B ; xref: GENATLAS:BUB1B ; xref: HGNC:1149 ; xref: OMIM:602860 ; xref: UNIPROTKB/SWISSPROT:O60566 ; xref: ENSEMBL:ENSG00000156970 ; xref: REACTOME:O60566] Orphanet ID- 1351 EXACT Warburton-Anyane-Yeboa syndrome Genetic disease of neuromuscular junction prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98495 Orphanet ID- 13512 Genetic peripheral neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98497 Orphanet ID- 13514 Vein of Galen aneurysm Vein of Galen arteriovenous malformations ICD10:Q28.2 Orphanet ID- 1352 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 Vein of Galen arteriovenous malformations prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Vein of Galen arteriovenous malformations Genetic motor neuron disease Orphanet ID- 13522 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98505 Cranial nerve and nuclear aplasia Orphanet ID- 13535 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518 Nonsyndromic pontocerebellar hypoplasia Orphanet ID- 13540 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Intracranial aneurysms - multiple congenital anomalies Orphanet ID- 1355 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1057 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ataxia with dementia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538 Orphanet ID- 13555 Early-onset ataxia with dementia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539 Orphanet ID- 13556 Late-onset ataxia with dementia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13557 Metabolic disease with dementia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98543 Orphanet ID- 13560 Cerebral lipidosis with dementia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13561 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98544 Cerebrovascular dementia Orphanet ID- 13566 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98549 Developmental defect of the eye Orphanet ID- 13570 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98553 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Major induction processes eye anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98554 Orphanet ID- 13571 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Anophthalmia - microphthalmia Orphanet ID- 13572 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555 Syndromic aniridia Orphanet ID- 13574 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557 Rare eye disease due to a differentiation anomaly Orphanet ID- 13575 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98558 Rare palpebral, lacrimal system and conjunctival diseases Orphanet ID- 13576 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98559 Rare palpebral disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13577 Eyelid malformation Orphanet ID- 13578 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561 Cryptophthalmia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562 Orphanet ID- 13579 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Microblepharon - ablephara Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563 Orphanet ID- 13580 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Eyelid border anomaly Orphanet ID- 13581 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic ankyloblepharon Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13582 Syndromic palpebral coloboma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566 Orphanet ID- 13583 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Eyelids malposition disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567 Orphanet ID- 13584 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital entropion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13585 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98568 Secondary entropion Orphanet ID- 13586 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98569 Congenital ectropion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13587 Secondary ectropion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13588 Canthal anomaly Orphanet ID- 13589 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98572 Hereditary neurocutaneous angioma Orphanet ID- 1359 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:106070 ICD10:D18.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 Epicanthal fold Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98573 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13590 Syndromic epicanthus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13591 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574 Telecanthus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13592 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575 Malposition of external canthus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576 Orphanet ID- 13593 Kinetic eyelid anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98577 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13594 Ptosis Orphanet ID- 13595 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578 Congenital upper palpebral retraction prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98579 Orphanet ID- 13596 Palpebral tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98580 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13597 Palpebral epidermal tumor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98581 Orphanet ID- 13598 Benign tumor of palpebral epidermis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98582 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13599 Aniridia - renal agenesis - psychomotor retardation Sommer-Rathbun-Battles syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 OMIM:206750 Orphanet ID- 1360 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Sommer-Rathbun-Battles syndrome EXACT Sommer-Rathbun-Battles syndrome Pre-cancerous lesion of palpebral epidermis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98583 Orphanet ID- 13600 Malignant tumor of palpebral epidermis Orphanet ID- 13601 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98584 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Palpebral sebaceus gland tumor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98585 Orphanet ID- 13602 Pigmented palpebral tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98586 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13603 Palpebral lentiginosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98587 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13604 Palpebral nevus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98588 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13605 Palpebral malignant melanoma Orphanet ID- 13606 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98589 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Palpebral piliary tumor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98590 Orphanet ID- 13607 Mesenchymatous palpebral tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98591 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13608 Palpebral tumor with a vascular malformation Orphanet ID- 13609 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98592 Neurogenic palpebral tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98593 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13610 Rare eyebrow/eyelashes anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13611 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594 Eyebrow/eyelashes hypertrichosis Orphanet ID- 13612 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98595 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Eyebrow hypertrophy Orphanet ID- 13613 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98596 Eyelashes hypertrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13614 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98597 Congenital absence of the eyebrow/eyelashes prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13615 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98598 Eyebrow/eyelashes structural anomaly Orphanet ID- 13616 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98599 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Eyebrow/eyelashes distichiasis Orphanet ID- 13617 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98600 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Eyebrow/eyelashes pigmentation anomaly Orphanet ID- 13618 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98601 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare lacrimal system disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98602 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13619 Aniridia - ptosis - intellectual deficit - familial obesity prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 Orphanet ID- 1362 Secretory apparatus of the lacrimal system anomaly Orphanet ID- 13620 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98603 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital alacrima prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13621 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98604 Excretory apparatus of the lacrimal system anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605 Orphanet ID- 13622 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic orbital border hypoplasia Urrets-Zavalia syndrome Urrets-Zavalia syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13623 OMIM:165600 EXACT Urrets-Zavalia syndrome Anomaly of the secretory and excretory apparatus of the lacrimal system prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13625 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98608 EEC syndrome and related syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13626 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609 Rare conjunctival disease Orphanet ID- 13627 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98610 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Conjunctival vascular anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13628 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98611 Conjunctival hemangioma or hemolymphangioma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13629 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98612 Aniridia-intellectual deficit syndrome Walker-Dyson syndrome Orphanet ID- 1363 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Walker-Dyson syndrome EXACT Walker-Dyson syndrome Conjunctival telangiectasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98613 Orphanet ID- 13630 Conjunctival lymphangiectasia Orphanet ID- 13631 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98614 Pigmented conjunctival lesion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13632 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98615 Conjunctival tumor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98616 Orphanet ID- 13633 Bulbar conjunctival dermoid or conjunctival dermolipoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13634 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98617 Rare refraction anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98618 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13635 Rare isolated myopia OMIM:614292 Gene [OrphaNum:289488 ; Name:Leprecan-like 1 ; Symbol:LEPREL1 ; xref: ENSEMBL:ENSG00000090530 ; xref: HGNC:19317 ; xref: OMIM:610341 ; xref: UNIPROTKB/SWISSPROT:Q8IVL5 ; xref: GENATLAS:LEPREL1] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13636 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619 Syndromic myopia Orphanet ID- 13637 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98620 Rare hyperopia and astigmatism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98621 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13638 Syndromic hyperopia Orphanet ID- 13639 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98622 Aniridia - absent patella prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 OMIM:106220 Orphanet ID- 1364 Syndromic keratoconus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98623 Orphanet ID- 13640 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Superficial corneal dystrophy Orphanet ID- 13642 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98625 Stromal corneal dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98626 Orphanet ID- 13643 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Posterior corneal dystrophy Orphanet ID- 13644 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98627 Syndromic corneal dystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13645 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98628 Rare glaucoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98629 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13646 Secondary dysgenetic glaucoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13648 Glaucoma associated with neural crest cell migration anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98632 Orphanet ID- 13649 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ankyloblepharon - ectodermal defects - cleft lip/palate AEC syndrome Hay-Wells syndrome Gene [OrphaNum:120207 ; Name:Tumor Protein p63 ; Symbol:TP63 ; xref: OMIM:603273 ; xref: UNIPROTKB/SWISSPROT:Q9H3D4 ; xref: GENATLAS:TP63 ; xref: HGNC:15979 ; xref: ENSEMBL:ENSG00000073282] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 AEC syndrome ICD10:Q87.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:106260 Orphanet ID- 1365 Hay-Wells syndrome EXACT AEC syndrome EXACT Hay-Wells syndrome Goniodysgenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98633 Orphanet ID- 13650 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Iridogoniodysgenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634 Orphanet ID- 13651 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Corneogoniodysgenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13652 Corneoiridogoniodysgenesis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13653 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98636 Secondary glaucoma due to a proliferation and differentiation anomaly Orphanet ID- 13654 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98637 Syndromic glaucoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98638 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13655 Lens and zonula anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13656 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98639 Rare cataract Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98640 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13657 Syndromic cataract Orphanet ID- 13658 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98641 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Chromosomal anomaly with cataract Orphanet ID- 13659 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98642 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ankyloblepharon filiforme adnatum - cleft palate Orphanet ID- 1366 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 OMIM:106250 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Systemic disease with cataract Orphanet ID- 13660 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98643 Cataract associated with a metabolic disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98644 Orphanet ID- 13661 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cerebral disease with cataract Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98645 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13662 Renal disease with cataract Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98646 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13663 Cardiac disease with cataract Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98647 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13664 Musculoskeletal disease with cataract Orphanet ID- 13665 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98648 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Dentocutaneous disease with cataract Orphanet ID- 13666 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98649 Craniofacial anomaly with cataract prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98650 Orphanet ID- 13667 Lens size anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13669 Lens position anomaly Orphanet ID- 13670 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lens shape anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655 Orphanet ID- 13672 Genetic vitreous-retinal disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98657 Orphanet ID- 13674 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Color-vision disease Orphanet ID- 13675 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98658 S-cone monochromatism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13676 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98659 Syndromic retinitis pigmentosa prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13678 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98661 Unclassified familial retinal dystrophy Orphanet ID- 13679 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98662 Ankyloblepharon filiforme - imperforate anus Aughton-Hufnagle syndrome Orphanet ID- 1368 Aughton-Hufnagle syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 EXACT Aughton-Hufnagle syndrome Genetic macular dystrophy Orphanet ID- 13681 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98664 Colobomatous and areolar dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98665 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13682 Unclassified primitive or secondary maculopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13683 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98666 Disease predisposing to age-related macular degeneration Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98667 Orphanet ID- 13684 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Vitreoretinopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98668 Orphanet ID- 13685 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital vitreoretinal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98669 Orphanet ID- 13686 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Vitreoretinal degeneration Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98670 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13687 Optic neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98671 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13688 Autosomal dominant optic atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672 Orphanet ID- 13689 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant optic atrophy, classic type Autosomal dominant optic atrophy, Kjer type Kjer disease Gene [OrphaNum:123996 ; Name:Optic atrophy 1 (autosomal dominant) ; Symbol:OPA1 ; xref: GENATLAS:OPA1 ; xref: HGNC:8140 ; xref: OMIM:605290 ; xref: UNIPROTKB/SWISSPROT:O60313 ; xref: ENSEMBL:ENSG00000198836] Orphanet ID- 13690 Autosomal dominant optic atrophy, Kjer type Kjer disease OMIM:165500 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 OMIM:610708 OMIM:605293 EXACT Autosomal dominant optic atrophy, Kjer type EXACT Kjer disease Autosomal recessive optic atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98675 Orphanet ID- 13692 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive isolated optic atrophy Orphanet ID- 13693 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive syndromic optic atrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98677 Orphanet ID- 13694 X-linked recessive optic atrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13695 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98678 Rare strabismus and restriction syndrome Orphanet ID- 13698 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98681 Essential strabismus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98682 Orphanet ID- 13699 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndrome with a symptomatic strabismus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98683 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13700 Craniostenosis associated with a strabismus Orphanet ID- 13701 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98684 Oculomotor palsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98685 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13702 Congenital trochlear nerve palsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98686 Orphanet ID- 13703 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Supranuclear oculomotor palsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98687 Orphanet ID- 13704 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Oculomotor apraxia or related oculomotor disease Orphanet ID- 13705 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98688 Myopathy with eye involvement Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98689 Orphanet ID- 13706 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Myasthenic syndrome with eye involvement Orphanet ID- 13707 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98690 Abnormal eye movements Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98691 Orphanet ID- 13708 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Nervous system anomaly with eye involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98692 Orphanet ID- 13709 Dental ankylosis Ankylosis of teeth Failure of teeth eruption Secondary retention of permanent molars ICD10:K03.5 OMIM:125350 Ankylosis of teeth Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077 Failure of teeth eruption prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Orphanet ID- 1371 Gene [OrphaNum:118140 ; Name:Parathyroid hormone 1 receptor ; Symbol:PTH1R ; xref: OMIM:168468 ; xref: UNIPROTKB/SWISSPROT:Q03431 ; xref: HGNC:9608 ; xref: GENATLAS:PTH1R ; xref: ENSEMBL:ENSG00000160801 ; xref: IUPHAR:331 ; xref: REACTOME:Q03431] OMIM:157950 Secondary retention of permanent molars EXACT Ankylosis of teeth EXACT Failure of teeth eruption EXACT Secondary retention of permanent molars Spinocerebellar ataxia with oculomotor anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98693 Orphanet ID- 13710 Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly Orphanet ID- 13711 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98694 Mitochondriopathy with eye involvement Orphanet ID- 13712 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98695 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genodermatosis with ocular features prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13713 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98696 Genetic keratinisation disorder associated with ocular features Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98697 Orphanet ID- 13714 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ichthyosis associated with ocular features prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13715 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98698 Syndromic ichthyosis associated with ocular features Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98699 Orphanet ID- 13716 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pigmentation disorder with eye involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98700 Orphanet ID- 13717 Phakomatosis with eye involvement Orphanet ID- 13718 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98701 Connective tissue disease with eye involvement Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98702 Orphanet ID- 13719 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Disease with potential neoplastic degeneration associated with ocular features prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98703 Orphanet ID- 13720 Onycho-patellar syndrome with eye involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98704 Orphanet ID- 13721 Oculocutaneous or ocular albinism Orphanet ID- 13723 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98706 Pigmentation disorder with eye involvement, excluding albinism Orphanet ID- 13725 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98708 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ectodermal malformation syndrome associated with ocular features Orphanet ID- 13726 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98709 Metabolic disease associated with ocular features Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98710 Orphanet ID- 13727 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Metabolic disease with corneal opacity Orphanet ID- 13728 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98711 Metabolic disease with cataract Orphanet ID- 13729 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98712 Metabolic disease with pigmentary retinitis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98713 Orphanet ID- 13730 Metabolic disease with macular cherry-red spot Orphanet ID- 13731 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98714 Noonan syndrome and Noonan-related syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733 Orphanet ID- 13750 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 UPD(15)mat Orphanet ID- 13771 ICD10:Q87.1 UPD(15)mat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(15)mat Spinocerebellar ataxia type 1 SCA1 ICD10:G11 Gene [OrphaNum:118913 ; Name:Ataxin 1 ; Symbol:ATXN1 ; xref: GENATLAS:ATXN1 ; xref: HGNC:10548 ; xref: OMIM:601556 ; xref: UNIPROTKB/SWISSPROT:P54253 ; xref: ENSEMBL:ENSG00000124788] Orphanet ID- 13772 SCA1 OMIM:164400 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 EXACT SCA1 Spinocerebellar ataxia type 2 SCA2 ICD10:G11 SCA2 Gene [OrphaNum:118923 ; Name:Ataxin 2 ; Symbol:ATXN2 ; xref: ENSEMBL:ENSG00000204842 ; xref: GENATLAS:ATXN2 ; xref: HGNC:10555 ; xref: OMIM:601517 ; xref: UNIPROTKB/SWISSPROT:Q99700] OMIM:183090 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 Orphanet ID- 13773 EXACT SCA2 Spinocerebellar ataxia type 3 Autosomal dominant striatonigral degeneration Azorean disease of the nervous system MJD Machado disease Machado-Joseph disease Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia SCA3 Machado–Joseph disease (MJD) is a rare autosomal, dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia web:http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; MSH:D017827 OMIM:109150 Azorean disease Spinocerebellar ataxia type 3 (SCA3) ICD10:G11 Orphanet ID- 13774 DOID:1440 Spinocerebellar ataxia type 6 SCA6 Gene [OrphaNum:119129 ; Name:Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ; Symbol:CACNA1A ; xref: GENATLAS:CACNA1A ; xref: HGNC:1388 ; xref: OMIM:601011 ; xref: UNIPROTKB/SWISSPROT:O00555 ; xref: IUPHAR:532 ; xref: ENSEMBL:ENSG00000141837 ; xref: REACTOME:O00555] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 SCA6 OMIM:183086 Orphanet ID- 13775 ICD10:G11 EXACT SCA6 Spinocerebellar ataxia type 17 SCA17 ICD10:G11 OMIM:607136 Gene [OrphaNum:119948 ; Name:TATA box binding protein ; Symbol:TBP ; xref: GENATLAS:TBP ; xref: HGNC:11588 ; xref: OMIM:600075 ; xref: UNIPROTKB/SWISSPROT:P20226 ; xref: ENSEMBL:ENSG00000112592 ; xref: REACTOME:P20226] Orphanet ID- 13776 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 SCA17 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT SCA17 Spinocerebellar ataxia type 8 SCA8 Gene [OrphaNum:158384 ; Name:Ataxin 8 opposite strand ; Symbol:ATXN8OS ; xref: GENATLAS:ATXN8OS ; xref: HGNC:10561 ; xref: OMIM:603680 ; xref: ENSEMBL:ENSG00000230223] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G11 Orphanet ID- 13777 OMIM:608768 SCA8 Gene [OrphaNum:118939 ; Name:Ataxin 8 ; Symbol:ATXN8 ; xref: OMIM:613289 ; xref: GENATLAS:ATXN8 ; xref: HGNC:32925 ; xref: UNIPROTKB/SWISSPROT:Q156A1] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 EXACT SCA8 Spinocerebellar ataxia type 10 SCA10 OMIM:603516 Orphanet ID- 13778 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 Gene [OrphaNum:118918 ; Name:Ataxin 10 ; Symbol:ATXN10 ; xref: GENATLAS:ATXN10 ; xref: HGNC:10549 ; xref: OMIM:611150 ; xref: UNIPROTKB/SWISSPROT:Q9UBB4 ; xref: ENSEMBL:ENSG00000130638] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; SCA10 ICD10:G11 EXACT SCA10 Spinocerebellar ataxia type 12 SCA12 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; SCA12 Orphanet ID- 13779 ICD10:G11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 OMIM:604326 Gene [OrphaNum:117973 ; Name:Protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform ; Symbol:PPP2R2B ; xref: GENATLAS:PPP2R2B ; xref: HGNC:9305 ; xref: OMIM:604325 ; xref: UNIPROTKB/SWISSPROT:Q00005 ; xref: ENSEMBL:ENSG00000156475] EXACT SCA12 Renal-genital-middle ear anomalies Orphanet ID- 1378 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1092 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:267400 Spinocerebellar ataxia type 14 SCA14 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 ICD10:G11 Gene [OrphaNum:118014 ; Name:Protein kinase C, gamma ; Symbol:PRKCG ; xref: GENATLAS:PRKCG ; xref: HGNC:9402 ; xref: OMIM:176980 ; xref: UNIPROTKB/SWISSPROT:P05129 ; xref: ENSEMBL:ENSG00000126583 ; xref: REACTOME:P05129] OMIM:605361 SCA14 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13780 EXACT SCA14 Spinocerebellar ataxia type 27 SCA27 OMIM:609307 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; SCA27 ICD10:G11 Gene [OrphaNum:121796 ; Name:Fibroblast growth factor 14 ; Symbol:FGF14 ; xref: GENATLAS:FGF14 ; xref: HGNC:3671 ; xref: OMIM:601515 ; xref: UNIPROTKB/SWISSPROT:Q92915 ; xref: ENSEMBL:ENSG00000102466] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 Orphanet ID- 13781 EXACT SCA27 Spinocerebellar ataxia type 4 SCA4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:117882 ; Name:Pleckstrin homology domain containing, family G (with RhoGef domain) member 4 ; Symbol:PLEKHG4 ; xref: GENATLAS:PLEKHG4 ; xref: HGNC:24501 ; xref: OMIM:609526 ; xref: UNIPROTKB/SWISSPROT:Q58EX7 ; xref: ENSEMBL:ENSG00000196155] SCA4 OMIM:600223 Orphanet ID- 13782 ICD10:G11 EXACT SCA4 Spinocerebellar ataxia type 5 SCA5 ICD10:G11 OMIM:600224 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 Orphanet ID- 13783 Gene [OrphaNum:119851 ; Name:Spectrin, beta, non-erythrocytic 2 ; Symbol:SPTBN2 ; xref: GENATLAS:SPTBN2 ; xref: HGNC:11276 ; xref: OMIM:604985 ; xref: UNIPROTKB/SWISSPROT:O15020 ; xref: ENSEMBL:ENSG00000173898 ; xref: REACTOME:O15020] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; SCA5 EXACT SCA5 Spinocerebellar ataxia type 11 SCA11 ICD10:G11 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 Gene [OrphaNum:159341 ; Name:Tau tubulin kinase 2 ; Symbol:TTBK2 ; xref: GENATLAS:TTBK2 ; xref: HGNC:19141 ; xref: UNIPROTKB/SWISSPROT:Q6IQ55 ; xref: OMIM:611695 ; xref: ENSEMBL:ENSG00000128881] SCA11 OMIM:604432 Orphanet ID- 13784 EXACT SCA11 Spinocerebellar ataxia type 13 SCA13 ICD10:G11 Gene [OrphaNum:159737 ; Name:Potassium voltage-gated channel, Shaw-related subfamily, member 3 ; Symbol:KCNC3 ; xref: GENATLAS:KCNC3 ; xref: OMIM:176264 ; xref: HGNC:6235 ; xref: UNIPROTKB/SWISSPROT:Q14003 ; xref: IUPHAR:550 ; xref: ENSEMBL:ENSG00000131398 ; xref: REACTOME:Q14003] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 OMIM:605259 Orphanet ID- 13785 SCA13 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT SCA13 Spinocerebellar ataxia type 15 SCA15 Orphanet ID- 13786 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 OMIM:606658 SCA15 ICD10:G11 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:159904 ; Name:Inositol 1,4,5-triphosphate receptor, type 1 ; Symbol:ITPR1 ; xref: GENATLAS:ITPR1 ; xref: HGNC:6180 ; xref: OMIM:147265 ; xref: UNIPROTKB/SWISSPROT:Q14643 ; xref: ENSEMBL:ENSG00000150995 ; xref: REACTOME:Q14643] EXACT SCA15 Spinocerebellar ataxia type 16 SCA16 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98770 Gene [OrphaNum:159904 ; Name:Inositol 1,4,5-triphosphate receptor, type 1 ; Symbol:ITPR1 ; xref: GENATLAS:ITPR1 ; xref: HGNC:6180 ; xref: OMIM:147265 ; xref: UNIPROTKB/SWISSPROT:Q14643 ; xref: ENSEMBL:ENSG00000150995 ; xref: REACTOME:Q14643] Orphanet ID- 13787 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:606658 ICD10:G11 SCA16 EXACT SCA16 Spinocerebellar ataxia type 18 SCA18 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 OMIM:607458 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:201522 ; Name:Interferon-related developmental regulator 1 ; Symbol:IFRD1 ; xref: ENSEMBL:ENSG00000006652 ; xref: GENATLAS:IFRD1 ; xref: HGNC:5456 ; xref: OMIM:603502 ; xref: UNIPROTKB/SWISSPROT:O00458] Orphanet ID- 13788 SCA18 ICD10:G11 EXACT SCA18 Spinocerebellar ataxia type 19 SCA19 OMIM:607346 SCA19 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 ICD10:G11 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:212584 ; Name:Spinocerebellar ataxia 19 ; Symbol:SCA19 ; xref: OMIM:607346 ; xref: HGNC:17033] Orphanet ID- 13789 EXACT SCA19 Spinocerebellar ataxia type 21 SCA21 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 Gene [OrphaNum:212587 ; Name:Spinocerebellar ataxia 21 ; Symbol:SCA21 ; xref: OMIM:607454 ; xref: HGNC:17172] SCA21 ICD10:G11 Orphanet ID- 13790 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:607454 EXACT SCA21 Anonychia - microcephaly Teebi-Kaurah syndrome Orphanet ID- 1380 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Teebi-Kaurah syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094 OMIM:607214 EXACT Teebi-Kaurah syndrome Nocturnal frontal lobe epilepsy ADNFLE Autosomal dominant nocturnal frontal lobe epilepsy Gene [OrphaNum:119414 ; Name:Cholinergic receptor, nicotinic, alpha 4 ; Symbol:CHRNA4 ; xref: GENATLAS:CHRNA4 ; xref: HGNC:1958 ; xref: OMIM:118504 ; xref: UNIPROTKB/SWISSPROT:P43681 ; xref: IUPHAR:465 ; xref: ENSEMBL:ENSG00000101204 ; xref: REACTOME:P43681] OMIM:610353 ADNFLE Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 OMIM:605375 OMIM:600513 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:165966 ; Name:Cholinergic receptor, nicotinic, beta 2 (neuronal) ; Symbol:CHRNB2 ; xref: GENATLAS:CHRNB2 ; xref: HGNC:1962 ; xref: OMIM:118507 ; xref: UNIPROTKB/SWISSPROT:P17787 ; xref: IUPHAR:472 ; xref: ENSEMBL:ENSG00000160716 ; xref: REACTOME:P17787] Gene [OrphaNum:159345 ; Name:Cholinergic receptor, nicotinic, alpha 2 (neuronal) ; Symbol:CHRNA2 ; xref: IUPHAR:463 ; xref: ENSEMBL:ENSG00000120903 ; xref: REACTOME:Q15822 ; xref: GENATLAS:CHRNA2 ; xref: HGNC:1956 ; xref: OMIM:118502 ; xref: UNIPROTKB/SWISSPROT:Q15822] Orphanet ID- 13801 Autosomal dominant nocturnal frontal lobe epilepsy OMIM:603204 EXACT ADNFLE EXACT Autosomal dominant nocturnal frontal lobe epilepsy Alpha thalassemia - intellectual deficit syndrome ATR-16 syndrome Alpha thalassemia - retardation syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 Gene [OrphaNum:138671 ; Name:Hemoglobin, alpha 1 ; Symbol:HBA1 ; xref: GENATLAS:HBA1 ; xref: HGNC:4823 ; xref: OMIM:141800 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000206172] Orphanet ID- 13808 Alpha thalassemia - retardation syndrome ATR-16 syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D56.0 OMIM:141750 Gene [OrphaNum:122374 ; Name:Hemoglobin, alpha 2 ; Symbol:HBA2 ; xref: GENATLAS:HBA2 ; xref: HGNC:4824 ; xref: OMIM:141850 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000188536] EXACT Alpha thalassemia - retardation syndrome EXACT ATR-16 syndrome Prader-Willi syndrome due to paternal 15q11q13 deletion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 ICD10:Q87.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13810 Angelman syndrome due to maternal 15q11q13 deletion Angelman syndrome due to maternal monosomy 15q11q13 Orphanet ID- 13811 Angelman syndrome due to maternal monosomy 15q11q13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 Gene [OrphaNum:120365 ; Name:Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) ; Symbol:UBE3A ; xref: ENSEMBL:ENSG00000114062 ; xref: REACTOME:Q05086 ; xref: GENATLAS:UBE3A ; xref: HGNC:12496 ; xref: OMIM:601623 ; xref: UNIPROTKB/SWISSPROT:Q05086] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.5 EXACT Angelman syndrome due to maternal monosomy 15q11q13 Angelman syndrome due to paternal uniparental disomy of chromosome 15 UPD(15)pat Orphanet ID- 13812 UPD(15)pat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.5 EXACT UPD(15)pat Isochromosomy Yp prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98797 Orphanet ID- 13814 Isochromosomy Yq prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98798 Orphanet ID- 13815 Primary dystonia, DYT4 type DYT4 Hereditary whispering dysphonia OMIM:193680 ICD10:G24.1 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13822 DYT4 OMIM:128101 Hereditary whispering dysphonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805 EXACT DYT4 EXACT Hereditary whispering dysphonia Primary dystonia, DYT6 type DYT6 Idiopathic torsion dystonia of mixed type Gene [OrphaNum:178822 ; Name:THAP domain containing, apoptosis associated protein 1 ; Symbol:THAP1 ; xref: HGNC:20856 ; xref: OMIM:609520 ; xref: GENATLAS:THAP1 ; xref: UNIPROTKB/SWISSPROT:Q9NVV9 ; xref: ENSEMBL:ENSG00000131931] OMIM:602629 Idiopathic torsion dystonia of mixed type Orphanet ID- 13823 DYT6 ICD10:G24.1 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806 EXACT Idiopathic torsion dystonia of mixed type EXACT DYT6 Primary dystonia, DYT13 type DYT13 Primary dystonia with mixed phenotype Primary torsion dystonia with predominant craniocervical or upper limb onset Orphanet ID- 13824 ICD10:G24.1 Gene [OrphaNum:160001 ; Name:Dystonia 13, torsion gene ; Symbol:DYT13 ; xref: HGNC:3101 ; xref: OMIM:607671] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807 Primary dystonia with mixed phenotype DYT13 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:607671 Primary torsion dystonia with predominant craniocervical or upper limb onset EXACT DYT13 EXACT Primary torsion dystonia with predominant craniocervical or upper limb onset EXACT Primary dystonia with mixed phenotype Autosomal dominant dopa-responsive dystonia Autosomal dominant Segawa syndrome DYT5a HPD with marked diurnal fluctuation Hereditary progressive dystonia with marked diurnal fluctuation DYT5a prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122048 ; Name:GTP cyclohydrolase 1 (dopa-responsive dystonia) ; Symbol:GCH1 ; xref: GENATLAS:GCH1 ; xref: HGNC:4193 ; xref: OMIM:600225 ; xref: UNIPROTKB/SWISSPROT:P30793 ; xref: ENSEMBL:ENSG00000131979 ; xref: REACTOME:P30793] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 Orphanet ID- 13825 HPD with marked diurnal fluctuation OMIM:128230 Autosomal dominant Segawa syndrome Hereditary progressive dystonia with marked diurnal fluctuation ICD10:G24.1 EXACT Hereditary progressive dystonia with marked diurnal fluctuation EXACT DYT5a EXACT HPD with marked diurnal fluctuation EXACT Autosomal dominant Segawa syndrome Paroxysmal kinesigenic dyskinesia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G24.8 Orphanet ID- 13826 OMIM:611031 OMIM:128200 Gene [OrphaNum:291703 ; Name:Proline-rich transmembrane protein 2 ; Symbol:PRRT2 ; xref: HGNC:30500 ; xref: GENATLAS:PRRT2 ; xref: ENSEMBL:ENSG00000167371 ; xref: UNIPROTKB/SWISSPROT:Q7Z6L0 ; xref: OMIM:614386] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 Paroxysmal non-kinesigenic dyskinesia prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13827 ICD10:G24.8 OMIM:118800 Gene [OrphaNum:159984 ; Name:Paroxysmal nonkinesigenic dyskinesia ; Symbol:PNKD ; xref: GENATLAS:PNKD ; xref: HGNC:9153 ; xref: OMIM:609023 ; xref: UNIPROTKB/SWISSPROT:Q8N490 ; xref: ENSEMBL:ENSG00000127838] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 OMIM:611147 Paroxysmal exertion-induced dyskinesia DYT18 Dystonia 18 PED PED Orphanet ID- 13828 ICD10:G24.8 Dystonia 18 DYT18 OMIM:612126 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:158410 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 1 ; Symbol:SLC2A1 ; xref: UNIPROTKB/SWISSPROT:P11166 ; xref: REACTOME:P11166 ; xref: GENATLAS:SLC2A1 ; xref: HGNC:11005 ; xref: OMIM:138140 ; xref: ENSEMBL:ENSG00000117394] EXACT DYT18 EXACT PED EXACT Dystonia 18 Paroxysmal hypnogenic dyskinesia Orphanet ID- 13829 ICD10:G24.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98812 Hypohidrotic ectodermal dysplasia with immunodeficiency HED-ID prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300291 HED-ID Orphanet ID- 13830 Gene [OrphaNum:122614 ; Name:Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma ; Symbol:IKBKG ; xref: ENSEMBL:ENSG00000073009 ; xref: REACTOME:Q9Y6K9 ; xref: UNIPROTKB/SWISSPROT:Q9Y6K9 ; xref: GENATLAS:IKBKG ; xref: HGNC:5961 ; xref: OMIM:300248] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 EXACT HED-ID Benign childhood occipital epilepsy, Panayiotopoulos type Early onset benign childhood occipital epilepsy Panayiotopoulos syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Early onset benign childhood occipital epilepsy Orphanet ID- 13832 Panayiotopoulos syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815 EXACT Early onset benign childhood occipital epilepsy EXACT Panayiotopoulos syndrome Benign childhood occipital epilepsy, Gastaut type Late onset benign childhood occipital epilepsy Late onset benign childhood occipital epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13833 EXACT Late onset benign childhood occipital epilepsy Landau-Kleffner syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13835 OMIM:245570 Familial temporal epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 OMIM:608096 OMIM:611631 Orphanet ID- 13836 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial partial epilepsy with variable focus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:604364 Orphanet ID- 13837 Anophthalmia plus syndrome Fryns microphthalmia syndrome Orphanet ID- 1387 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:600776 Fryns microphthalmia syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104 EXACT Fryns microphthalmia syndrome Autosomal dominant Emery-Dreifuss muscular dystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:209271 ; Name:Spectrin repeat containing, nuclear envelope 2 ; Symbol:SYNE2 ; xref: ENSEMBL:ENSG00000054654 ; xref: GENATLAS:SYNE2 ; xref: HGNC:17084 ; xref: OMIM:608442 ; xref: UNIPROTKB/SWISSPROT:Q8WXH0 ; xref: REACTOME:Q8WXH0] Gene [OrphaNum:159219 ; Name:Spectrin repeat containing, nuclear envelope 1 ; Symbol:SYNE1 ; xref: ENSEMBL:ENSG00000131018 ; xref: REACTOME:Q8NF91 ; xref: GENATLAS:SYNE1 ; xref: HGNC:17089 ; xref: OMIM:608441 ; xref: UNIPROTKB/SWISSPROT:Q8NF91] Orphanet ID- 13870 OMIM:612999 Gene [OrphaNum:159517 ; Name:Transmembrane protein 43 ; Symbol:TMEM43 ; xref: GENATLAS:TMEM43 ; xref: HGNC:28472 ; xref: OMIM:612048 ; xref: UNIPROTKB/SWISSPROT:Q9BTV4 ; xref: ENSEMBL:ENSG00000170876] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 OMIM:181350 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] OMIM:612998 ICD10:G71.0 Autosomal recessive Emery-Dreifuss muscular dystrophy EDMD3 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 OMIM:181350 EDMD3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13872 ICD10:G71.0 EXACT EDMD3 Charcot-Marie-Tooth disease type 2B1 AR-CMT2B1 Autosomal recessive Charcot-Marie-Tooth disease type 2B1 Autosomal recessive axonal CMT4C1 ICD10:G60.0 Orphanet ID- 13873 AR-CMT2B1 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] OMIM:605588 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856 Autosomal recessive axonal CMT4C1 Autosomal recessive Charcot-Marie-Tooth disease type 2B1 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT AR-CMT2B1 EXACT Autosomal recessive Charcot-Marie-Tooth disease type 2B1 EXACT Autosomal recessive axonal CMT4C1 Primary ciliary dyskinesia, Kartagener type Dextrocardia - bronchiectasis - sinusitis Immotile cilia syndrome, Kartagener type Kartagener syndrome Siewert syndrome Gene [OrphaNum:169908 ; Name:Dynein, axonemal, intermediate chain 2 ; Symbol:DNAI2 ; xref: GENATLAS:DNAI2 ; xref: HGNC:18744 ; xref: OMIM:605483 ; xref: UNIPROTKB/SWISSPROT:Q9GZS0 ; xref: ENSEMBL:ENSG00000171595] OMIM:244400 Orphanet ID- 13878 Immotile cilia syndrome, Kartagener type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98861 Dextrocardia - bronchiectasis - sinusitis Gene [OrphaNum:121143 ; Name:Dynein, axonemal, intermediate chain 1 ; Symbol:DNAI1 ; xref: GENATLAS:DNAI1 ; xref: HGNC:2954 ; xref: OMIM:604366 ; xref: UNIPROTKB/SWISSPROT:Q9UI46 ; xref: ENSEMBL:ENSG00000122735] Gene [OrphaNum:121134 ; Name:Dynein, axonemal, heavy chain 11 ; Symbol:DNAH11 ; xref: GENATLAS:DNAH11 ; xref: HGNC:2942 ; xref: OMIM:603339 ; xref: UNIPROTKB/SWISSPROT:Q96DT5 ; xref: ENSEMBL:ENSG00000105877] Siewert syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Kartagener syndrome EXACT Kartagener syndrome EXACT Siewert syndrome EXACT Immotile cilia syndrome, Kartagener type EXACT Dextrocardia - bronchiectasis - sinusitis Microphthalmia with limb anomalies Anophthalmia - syndactyly Ophthalmoacromelic syndrome Waardenburg anophthalmia syndrome Anophthalmia - syndactyly OMIM:206920 ICD10:Q11.2 Orphanet ID- 1388 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 Gene [OrphaNum:258631 ; Name:SPARC related modular calcium binding 1 ; Symbol:SMOC1 ; xref: ENSEMBL:ENSG00000198732 ; xref: OMIM:608488 ; xref: HGNC:20318 ; xref: GENATLAS:SMOC1 ; xref: UNIPROTKB/SWISSPROT:Q9H4F8] ICD10:Q87.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Ophthalmoacromelic syndrome Waardenburg anophthalmia syndrome EXACT Ophthalmoacromelic syndrome EXACT Waardenburg anophthalmia syndrome EXACT Anophthalmia - syndactyly X-linked Emery-Dreifuss muscular dystrophy EDMD1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:140044 ; Name:Four and a half LIM domains 1 ; Symbol:FHL1 ; xref: UNIPROTKB/SWISSPROT:Q13642 ; xref: GENATLAS:FHL1 ; xref: HGNC:3702 ; xref: OMIM:300163 ; xref: ENSEMBL:ENSG00000022267] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 Gene [OrphaNum:121526 ; Name:Emerin (Emery-Dreifuss muscular dystrophy) ; Symbol:EMD ; xref: GENATLAS:EMD ; xref: HGNC:3331 ; xref: OMIM:300384 ; xref: UNIPROTKB/SWISSPROT:P50402 ; xref: ENSEMBL:ENSG00000102119] Orphanet ID- 13880 ICD10:G71.0 OMIM:310300 EDMD1 EXACT EDMD1 Common hereditary elliptocytosis Gene [OrphaNum:119846 ; Name:Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) ; Symbol:SPTA1 ; xref: GENATLAS:SPTA1 ; xref: HGNC:11272 ; xref: OMIM:182860 ; xref: UNIPROTKB/SWISSPROT:P02549 ; xref: ENSEMBL:ENSG00000163554 ; xref: REACTOME:P02549] ICD10:D58.1 Orphanet ID- 13881 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98864 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Homozygous hereditary elliptocytosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13882 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98865 ICD10:D58.1 Spherocytic elliptocytosis ICD10:D58.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98866 Orphanet ID- 13883 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary pyropoikilocytosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119846 ; Name:Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) ; Symbol:SPTA1 ; xref: GENATLAS:SPTA1 ; xref: HGNC:11272 ; xref: OMIM:182860 ; xref: UNIPROTKB/SWISSPROT:P02549 ; xref: ENSEMBL:ENSG00000163554 ; xref: REACTOME:P02549] OMIM:266140 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98867 Orphanet ID- 13884 ICD10:D58.1 Southeast asian ovalocytosis ICD10:D58.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13885 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868 Congenital dyserythropoietic anemia type 1 CDA type 1 CDAI CDA type 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119266 ; Name:Congenital dyserythropoietic anemia, type I ; Symbol:CDAN1 ; xref: GENATLAS:CDAN1 ; xref: HGNC:1713 ; xref: OMIM:607465 ; xref: UNIPROTKB/SWISSPROT:Q8IWY9 ; xref: ENSEMBL:ENSG00000140326] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869 ICD10:D64.4 OMIM:224120 Orphanet ID- 13886 CDAI EXACT CDA type 1 EXACT CDAI Congenital dyserythropoietic anemia type 3 CDA type 3 CDAIII CDA type 3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870 CDAIII Gene [OrphaNum:140554 ; Name:Congenital dyserythropoietic anemia, type III gene ; Symbol:CDAN3 ; xref: GENATLAS:CDAN3 ; xref: HGNC:1715 ; xref: OMIM:105600] ICD10:D64.4 OMIM:105600 Orphanet ID- 13887 EXACT CDA type 3 EXACT CDAIII Transient erythroblastopenia of childhood Transient acquired pure red cell aplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D60.1 Orphanet ID- 13888 Transient acquired pure red cell aplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98871 OMIM:227050 EXACT Transient acquired pure red cell aplasia Adult pure red cell aplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13889 ICD10:D60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98872 Congenital dyserythropoietic anemia type 2 CDA type 2 CDAII Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) OMIM:224100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 CDAII Orphanet ID- 13890 Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) CDA type 2 Gene [OrphaNum:205932 ; Name:Sec23 homolog B (S. cerevisiae) ; Symbol:SEC23B ; xref: ENSEMBL:ENSG00000101310 ; xref: GENATLAS:SEC23B ; xref: HGNC:10702 ; xref: OMIM:610512 ; xref: UNIPROTKB/SWISSPROT:Q15437] ICD10:D64.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT CDA type 2 EXACT Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) EXACT CDAII Hemophilia A Factor VIII deficiency Orphanet ID- 13895 ICD10:D66 OMIM:134500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878 OMIM:306700 Factor VIII deficiency prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Factor VIII deficiency Hemophilia B Factor IX deficiency Orphanet ID- 13896 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Factor IX deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879 ICD10:D67 OMIM:306900 EXACT Factor IX deficiency Familial afibrinogenemia OMIM:202400 Orphanet ID- 13897 Gene [OrphaNum:121786 ; Name:Fibrinogen alpha chain ; Symbol:FGA ; xref: GENATLAS:FGA ; xref: HGNC:3661 ; xref: OMIM:134820 ; xref: UNIPROTKB/SWISSPROT:P02671 ; xref: ENSEMBL:ENSG00000171560 ; xref: REACTOME:P02671] ICD10:D68.2 Gene [OrphaNum:121821 ; Name:Fibrinogen gamma chain ; Symbol:FGG ; xref: GENATLAS:FGG ; xref: HGNC:3694 ; xref: OMIM:134850 ; xref: UNIPROTKB/SWISSPROT:P02679 ; xref: ENSEMBL:ENSG00000171557 ; xref: REACTOME:P02679] Gene [OrphaNum:121788 ; Name:Fibrinogen beta chain ; Symbol:FGB ; xref: GENATLAS:FGB ; xref: HGNC:3662 ; xref: OMIM:134830 ; xref: UNIPROTKB/SWISSPROT:P02675 ; xref: ENSEMBL:ENSG00000171564 ; xref: REACTOME:P02675] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Familial dysfibrinogenemia OMIM:202400 ICD10:D68.2 Orphanet ID- 13898 Gene [OrphaNum:121821 ; Name:Fibrinogen gamma chain ; Symbol:FGG ; xref: GENATLAS:FGG ; xref: HGNC:3694 ; xref: OMIM:134850 ; xref: UNIPROTKB/SWISSPROT:P02679 ; xref: ENSEMBL:ENSG00000171557 ; xref: REACTOME:P02679] Gene [OrphaNum:121788 ; Name:Fibrinogen beta chain ; Symbol:FGB ; xref: GENATLAS:FGB ; xref: HGNC:3662 ; xref: OMIM:134830 ; xref: UNIPROTKB/SWISSPROT:P02675 ; xref: ENSEMBL:ENSG00000171564 ; xref: REACTOME:P02675] Gene [OrphaNum:121786 ; Name:Fibrinogen alpha chain ; Symbol:FGA ; xref: GENATLAS:FGA ; xref: HGNC:3661 ; xref: OMIM:134820 ; xref: UNIPROTKB/SWISSPROT:P02671 ; xref: ENSEMBL:ENSG00000171560 ; xref: REACTOME:P02671] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881 Prader-Willi syndrome Prader-Labhart-Willi syndrome Willi-Prader syndrome ICD10:Q87.1 Gene [OrphaNum:119771 ; Name:Small nuclear ribonucleoprotein polypeptide N ; Symbol:SNRPN ; xref: GENATLAS:SNRPN ; xref: HGNC:11164 ; xref: OMIM:182279 ; xref: UNIPROTKB/SWISSPROT:P63162 ; xref: ENSEMBL:ENSG00000128739] OMIM:176270 Gene [OrphaNum:123974 ; Name:Oculocutaneous albinism II (pink-eye dilution homolog, mouse) ; Symbol:OCA2 ; xref: GENATLAS:OCA2 ; xref: HGNC:8101 ; xref: OMIM:611409 ; xref: UNIPROTKB/SWISSPROT:Q04671 ; xref: ENSEMBL:ENSG00000104044] Gene [OrphaNum:159915 ; Name:Small nucleolar RNA, C/D box 115 cluster ; Symbol:SNORD115@ ; xref: GENATLAS:SNORD115 Prader-Labhart-Willi syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 Gene [OrphaNum:123710 ; Name:Necdin homolog (mouse) ; Symbol:NDN ; xref: GENATLAS:NDN ; xref: HGNC:7675 ; xref: OMIM:602117 ; xref: UNIPROTKB/SWISSPROT:Q99608 ; xref: ENSEMBL:ENSG00000182636] Gene [OrphaNum:159122 ; Name:Small nucleolar RNA, C/D box 116 cluster ; Symbol:SNORD116@ ; xref: GENATLAS:SNORD116 Gene [OrphaNum:159559 ; Name:Small nucleolar RNA, C/D box 11 ; Symbol:SNORD11 ; xref: GENATLAS:SNORD11 ; xref: HGNC:32707 ; xref: ENSEMBL:ENSG00000238317] prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; Willi-Prader syndrome Gene [OrphaNum:123324 ; Name:MAGE-like 2 ; Symbol:MAGEL2 ; xref: GENATLAS:MAGEL2 ; xref: HGNC:6814 ; xref: OMIM:605283 ; xref: UNIPROTKB/SWISSPROT:Q9UJ55 ; xref: ENSEMBL:ENSG00000254585] OMIM:601491 Orphanet ID- 139 EXACT Willi-Prader syndrome EXACT Prader-Labhart-Willi syndrome Bleeding diathesis due to glycoprotein VI deficiency OMIM:614201 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D69.8 Orphanet ID- 13902 Gene [OrphaNum:225404 ; Name:Glycoprotein VI (platelet) ; Symbol:GP6 ; xref: REACTOME:Q9HCN6 ; xref: ENSEMBL:ENSG00000088053 ; xref: GENATLAS:GP6 ; xref: HGNC:14388 ; xref: OMIM:605546 ; xref: UNIPROTKB/SWISSPROT:Q9HCN6] Bleeding diathesis due to integrin alpha2-beta1 deficiency OMIM:614200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886 Orphanet ID- 13903 ICD10:D69.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Complex X-linked hereditary spastic paraplegia Orphanet ID- 13905 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98888 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G11.4 Bilateral perisylvian polymicrogyria OMIM:300388 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q04.3 Orphanet ID- 13906 Gene [OrphaNum:119862 ; Name:Sushi-repeat-containing protein, X-linked 2 ; Symbol:SRPX2 ; xref: GENATLAS:SRPX2 ; xref: HGNC:30668 ; xref: OMIM:300642 ; xref: UNIPROTKB/SWISSPROT:O60687 ; xref: ENSEMBL:ENSG00000102359] Early-onset X-linked optic atrophy Non-Leber type optic atrophy with early-onset OPA2 Optic atrophy type 2 Non-Leber type optic atrophy with early-onset prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 OPA2 Orphanet ID- 13907 OMIM:311050 Optic atrophy type 2 EXACT OPA2 EXACT Optic atrophy type 2 EXACT Non-Leber type optic atrophy with early-onset Periventricular nodular heterotopia OMIM:608097 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; OMIM:608098 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 Gene [OrphaNum:121412 ; Name:ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) ; Symbol:ARFGEF2 ; xref: GENATLAS:ARFGEF2 ; xref: HGNC:15853 ; xref: OMIM:605371 ; xref: UNIPROTKB/SWISSPROT:Q9Y6D5 ; xref: ENSEMBL:ENSG00000124198 ; xref: REACTOME:Q9Y6D5] OMIM:300049 ICD10:Q04.8 Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] OMIM:612881 Orphanet ID- 13909 Antley-Bixler syndrome Orphanet ID- 1391 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital muscular dystrophy type 1B Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893 ICD10:G71.2 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 13910 OMIM:604801 Congenital muscular dystrophy type 1D Orphanet ID- 13911 ICD10:G71.2 Gene [OrphaNum:122992 ; Name:Like-glycosyltransferase ; Symbol:LARGE ; xref: GENATLAS:LARGE ; xref: HGNC:6511 ; xref: OMIM:603590 ; xref: UNIPROTKB/SWISSPROT:O95461 ; xref: ENSEMBL:ENSG00000133424] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98894 OMIM:608840 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Becker muscular dystrophy BMD Becker dystrophinopathy prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- X-linked recessive; ICD10:G71.0 BMD Becker dystrophinopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 Gene [OrphaNum:121117 ; Name:Dystrophin (muscular dystrophy, Duchenne and Becker types) ; Symbol:DMD ; xref: GENATLAS:DMD ; xref: HGNC:2928 ; xref: OMIM:300377 ; xref: UNIPROTKB/SWISSPROT:P11532 ; xref: ENSEMBL:ENSG00000198947 ; xref: REACTOME:P11532] Orphanet ID- 13912 OMIM:300376 EXACT BMD EXACT Becker dystrophinopathy Duchenne muscular dystrophy DMD Severe dystrophinopathy, Duchenne type Gene [OrphaNum:121117 ; Name:Dystrophin (muscular dystrophy, Duchenne and Becker types) ; Symbol:DMD ; xref: GENATLAS:DMD ; xref: HGNC:2928 ; xref: OMIM:300377 ; xref: UNIPROTKB/SWISSPROT:P11532 ; xref: ENSEMBL:ENSG00000198947 ; xref: REACTOME:P11532] Severe dystrophinopathy, Duchenne type Orphanet ID- 13913 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 DMD OMIM:310200 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- X-linked recessive; ICD10:G71.0 EXACT Severe dystrophinopathy, Duchenne type EXACT DMD Oculopharyngodistal myopathy OMIM:164310 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G71.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 Orphanet ID- 13914 Amish nemaline myopathy Gene [OrphaNum:120188 ; Name:Troponin T type 1 (skeletal, slow) ; Symbol:TNNT1 ; xref: GENATLAS:TNNT1 ; xref: HGNC:11948 ; xref: OMIM:191041 ; xref: UNIPROTKB/SWISSPROT:P13805 ; xref: REACTOME:P13805 ; xref: ENSEMBL:ENSG00000105048] ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 13919 Aortic arch anomaly - peculiar facies - intellectual deficit prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 OMIM:107500 Orphanet ID- 1392 Congenital myopathy with excess of thin filaments Actin myopathy OMIM:161800 Actin myopathy ICD10:G71.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13921 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 EXACT Actin myopathy Congenital multicore myopathy with external ophthalmoplegia OMIM:255320 ICD10:G71.2 Gene [OrphaNum:118437 ; Name:Ryanodine receptor 1 (skeletal) ; Symbol:RYR1 ; xref: UNIPROTKB/SWISSPROT:P21817 ; xref: GENATLAS:RYR1 ; xref: HGNC:10483 ; xref: OMIM:180901 ; xref: ENSEMBL:ENSG00000196218] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 Orphanet ID- 13922 Dorfman-Chanarin disease NLSDI Neutral lipid storage disease with ichthyosis Gene [OrphaNum:117687 ; Name:Abhydrolase domain containing 5 ; Symbol:ABHD5 ; xref: GENATLAS:ABHD5 ; xref: HGNC:21396 ; xref: OMIM:604780 ; xref: UNIPROTKB/SWISSPROT:Q8WTS1 ; xref: ENSEMBL:ENSG00000011198 ; xref: REACTOME:Q8WTS1] OMIM:275630 ICD10:E75.5 NLSDI Neutral lipid storage disease with ichthyosis prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 Orphanet ID- 13924 EXACT Neutral lipid storage disease with ichthyosis EXACT NLSDI Neutral lipid storage myopathy NLSDM Neutral lipid storage disease with myopathy without ichthyosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 Orphanet ID- 13925 Gene [OrphaNum:138475 ; Name:Patatin-like phospholipase domain containing 2 ; Symbol:PNPLA2 ; xref: GENATLAS:PNPLA2 ; xref: HGNC:30802 ; xref: UNIPROTKB/SWISSPROT:Q96AD5 ; xref: OMIM:609059 ; xref: ENSEMBL:ENSG00000177666] NLSDM Neutral lipid storage disease with myopathy without ichthyosis prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.5 OMIM:610717 EXACT NLSDM EXACT Neutral lipid storage disease with myopathy without ichthyosis Desminopathy Desmin-related myofibrillar myopathy Desmin-related myofibrillar myopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121053 ; Name:Desmin ; Symbol:DES ; xref: GENATLAS:DES ; xref: HGNC:2770 ; xref: OMIM:125660 ; xref: UNIPROTKB/SWISSPROT:P17661 ; xref: REACTOME:P17661 ; xref: ENSEMBL:ENSG00000175084] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 Orphanet ID- 13926 ICD10:G71.8 OMIM:601419 EXACT Desmin-related myofibrillar myopathy Alpha-crystallinopathy CRYAB-related myofobrillar myopathy ICD10:G71.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13927 OMIM:608810 Gene [OrphaNum:120832 ; Name:Crystallin, alpha B ; Symbol:CRYAB ; xref: GENATLAS:CRYAB ; xref: HGNC:2389 ; xref: OMIM:123590 ; xref: UNIPROTKB/SWISSPROT:P02511 ; xref: ENSEMBL:ENSG00000109846] CRYAB-related myofobrillar myopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98910 EXACT CRYAB-related myofobrillar myopathy Myotilin-related myofibrillar myopathy without spheroid body Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13928 OMIM:182920 Gene [OrphaNum:123664 ; Name:Myotilin ; Symbol:MYOT ; xref: GENATLAS:MYOT ; xref: HGNC:12399 ; xref: OMIM:604103 ; xref: UNIPROTKB/SWISSPROT:Q9UBF9 ; xref: ENSEMBL:ENSG00000120729] ICD10:G71.8 OMIM:609200 ZASP-related myofibrillar myopathy ZASPopathy Gene [OrphaNum:123010 ; Name:LIM domain binding 3 ; Symbol:LDB3 ; xref: GENATLAS:LDB3 ; xref: HGNC:15710 ; xref: OMIM:605906 ; xref: UNIPROTKB/SWISSPROT:O75112 ; xref: ENSEMBL:ENSG00000122367] ICD10:G71.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 OMIM:609452 ZASPopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13929 EXACT ZASPopathy Postsynaptic congenital myasthenic syndromes Gene [OrphaNum:233062 ; Name:Agrin ; Symbol:AGRN ; xref: REACTOME:O00468 ; xref: ENSEMBL:ENSG00000188157 ; xref: GENATLAS:AGRN ; xref: HGNC:329 ; xref: UNIPROTKB/SWISSPROT:O00468 ; xref: OMIM:103320] OMIM:601462 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:608931 Gene [OrphaNum:119411 ; Name:Cholinergic receptor, nicotinic, alpha 1 (muscle) ; Symbol:CHRNA1 ; xref: GENATLAS:CHRNA1 ; xref: HGNC:1955 ; xref: OMIM:100690 ; xref: UNIPROTKB/SWISSPROT:P02708 ; xref: IUPHAR:462 ; xref: REACTOME:P02708 ; xref: ENSEMBL:ENSG00000138435] Gene [OrphaNum:118222 ; Name:Receptor-associated protein of the synapse ; Symbol:RAPSN ; xref: GENATLAS:RAPSN ; xref: HGNC:9863 ; xref: OMIM:601592 ; xref: UNIPROTKB/SWISSPROT:Q13702 ; xref: ENSEMBL:ENSG00000165917] Orphanet ID- 13930 Gene [OrphaNum:160311 ; Name:Muscle, skeletal, receptor tyrosine kinase ; Symbol:MUSK ; xref: GENATLAS:MUSK ; xref: HGNC:7525 ; xref: OMIM:601296 ; xref: UNIPROTKB/SWISSPROT:O15146 ; xref: ENSEMBL:ENSG00000030304] OMIM:614198 Gene [OrphaNum:119419 ; Name:Cholinergic receptor, nicotinic, beta 1 (muscle) ; Symbol:CHRNB1 ; xref: HGNC:1961 ; xref: OMIM:100710 ; xref: UNIPROTKB/SWISSPROT:P11230 ; xref: GENATLAS:CHRNB1 ; xref: ENSEMBL:ENSG00000170175 ; xref: IUPHAR:471] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 Gene [OrphaNum:119422 ; Name:Cholinergic receptor, nicotinic, delta ; Symbol:CHRND ; xref: GENATLAS:CHRND ; xref: HGNC:1965 ; xref: OMIM:100720 ; xref: UNIPROTKB/SWISSPROT:Q07001 ; xref: IUPHAR:476 ; xref: ENSEMBL:ENSG00000135902 ; xref: REACTOME:Q07001] Gene [OrphaNum:121152 ; Name:Docking protein 7 ; Symbol:DOK7 ; xref: GENATLAS:DOK7 ; xref: HGNC:26594 ; xref: OMIM:610285 ; xref: UNIPROTKB/SWISSPROT:Q18PE1 ; xref: ENSEMBL:ENSG00000175920] Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499] Gene [OrphaNum:119425 ; Name:Cholinergic receptor, nicotinic, epsilon ; Symbol:CHRNE ; xref: GENATLAS:CHRNE ; xref: HGNC:1966 ; xref: OMIM:100725 ; xref: UNIPROTKB/SWISSPROT:Q04844 ; xref: IUPHAR:477 ; xref: ENSEMBL:ENSG00000108556 ; xref: REACTOME:Q04844] OMIM:608930 ICD10:G70.2 Presynaptic congenital myasthenic syndromes Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 Orphanet ID- 13931 Gene [OrphaNum:119387 ; Name:Choline acetyltransferase ; Symbol:CHAT ; xref: GENATLAS:CHAT ; xref: HGNC:1912 ; xref: OMIM:118490 ; xref: UNIPROTKB/SWISSPROT:P28329 ; xref: ENSEMBL:ENSG00000070748 ; xref: REACTOME:P28329] OMIM:254210 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G70.2 Synaptic congenital myasthenic syndromes Orphanet ID- 13932 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122971 ; Name:Laminin, beta 2 (laminin S) ; Symbol:LAMB2 ; xref: GENATLAS:LAMB2 ; xref: HGNC:6487 ; xref: OMIM:150325 ; xref: UNIPROTKB/SWISSPROT:P55268 ; xref: REACTOME:P55268 ; xref: ENSEMBL:ENSG00000172037] ICD10:G70.2 OMIM:603034 Gene [OrphaNum:120761 ; Name:Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase ; Symbol:COLQ ; xref: GENATLAS:COLQ ; xref: HGNC:2226 ; xref: OMIM:603033 ; xref: UNIPROTKB/SWISSPROT:Q9Y215 ; xref: ENSEMBL:ENSG00000206561] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 Spinal muscular atrophy with respiratory distress Autosomal recessive distal spinal muscular atrophy type 1 DSMA1 Diaphragmatic spinal muscular atrophy Distal hereditary motor neuropathy type 6 Distal-HMN type 6 HMN6 SIANRF SMARD SMARD1 Severe infantile axonal neuropathy with respiratory failure Autosomal recessive distal spinal muscular atrophy type 1 Gene [OrphaNum:122593 ; Name:Immunoglobulin mu binding protein 2 ; Symbol:IGHMBP2 ; xref: GENATLAS:IGHMBP2 ; xref: HGNC:5542 ; xref: OMIM:600502 ; xref: UNIPROTKB/SWISSPROT:P38935 ; xref: ENSEMBL:ENSG00000132740] Gene [OrphaNum:292098 ; Name:Multiple EGF-like-domains 10 ; Symbol:MEGF10 ; xref: HGNC:29634 ; xref: OMIM:612453 ; xref: GENATLAS:MEGF10 ; xref: UNIPROTKB/SWISSPROT:Q96KG7] ICD10:G12.2 Distal hereditary motor neuropathy type 6 HMN6 Distal-HMN type 6 OMIM:614399 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 SIANRF Diaphragmatic spinal muscular atrophy SMARD OMIM:604320 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 13937 DSMA1 SMARD1 Severe infantile axonal neuropathy with respiratory failure EXACT Distal hereditary motor neuropathy type 6 EXACT Distal-HMN type 6 EXACT Severe infantile axonal neuropathy with respiratory failure EXACT SMARD1 EXACT DSMA1 EXACT SMARD EXACT Diaphragmatic spinal muscular atrophy EXACT HMN6 EXACT Autosomal recessive distal spinal muscular atrophy type 1 EXACT SIANRF Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis Johnson-Munson syndrome ICD10:Q89.7 Orphanet ID- 1394 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Johnson-Munson syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 OMIM:207620 EXACT Johnson-Munson syndrome Shy-Drager syndrome MSA - urinary dysfunction Multiple system atrophy - urinary dysfunction SDS SDS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98932 MSA - urinary dysfunction Orphanet ID- 13949 Multiple system atrophy - urinary dysfunction ICD10:G90.3 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; EXACT SDS EXACT MSA - urinary dysfunction EXACT Multiple system atrophy - urinary dysfunction Aphalangy - syndactyly - microcephaly OMIM:600384 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 Orphanet ID- 1395 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Multiple system atrophy, parkinsonian type MSA, parkinsonian type MSA-p Striatonigral degeneration Orphanet ID- 13950 MSA-p ICD10:G23.2 MSA, parkinsonian type Striatonigral degeneration Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98933 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; EXACT MSA-p EXACT Striatonigral degeneration EXACT MSA, parkinsonian type Huntington disease-like 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 Gene [OrphaNum:122737 ; Name:Junctophilin 3 ; Symbol:JPH3 ; xref: GENATLAS:JPH3 ; xref: HGNC:14203 ; xref: OMIM:605268 ; xref: UNIPROTKB/SWISSPROT:Q8WXH2 ; xref: ENSEMBL:ENSG00000154118] OMIM:606438 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13951 Colobomatous microphthalmia Microphthalmia with colobomatous cyst Gene [OrphaNum:138526 ; Name:Stimulated by retinoic acid gene 6 homolog (mouse) ; Symbol:STRA6 ; xref: GENATLAS:STRA6 ; xref: HGNC:30650 ; xref: OMIM:610745 ; xref: UNIPROTKB/SWISSPROT:Q9BX79 ; xref: ENSEMBL:ENSG00000137868] Microphthalmia with colobomatous cyst Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] OMIM:614497 Gene [OrphaNum:250181 ; Name:Growth differentiation factor 3 ; Symbol:GDF3 ; xref: ENSEMBL:ENSG00000184344 ; xref: GENATLAS:GDF3 ; xref: HGNC:4218 ; xref: UNIPROTKB/SWISSPROT:Q9NR23 ; xref: OMIM:606522] Gene [OrphaNum:291794 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 6 ; Symbol:ABCB6 ; xref: HGNC:47 ; xref: OMIM:605452 ; xref: GENATLAS:ABCB6 ; xref: UNIPROTKB/SWISSPROT:Q9NP58 ; xref: ENSEMBL:ENSG00000115657] OMIM:605738 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q11.2 OMIM:613703 OMIM:251505 OMIM:611638 Gene [OrphaNum:209481 ; Name:Growth differentiation factor 6 ; Symbol:GDF6 ; xref: ENSEMBL:ENSG00000156466 ; xref: GENATLAS:GDF6 ; xref: HGNC:4221 ; xref: OMIM:601147 ; xref: UNIPROTKB/SWISSPROT:Q6KF10] OMIM:610092 Orphanet ID- 13955 Gene [OrphaNum:119790 ; Name:SRY (sex determining region Y)-box 2 ; Symbol:SOX2 ; xref: GENATLAS:SOX2 ; xref: HGNC:11195 ; xref: OMIM:184429 ; xref: UNIPROTKB/SWISSPROT:P48431 ; xref: ENSEMBL:ENSG00000181449] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938 Gene [OrphaNum:159362 ; Name:Visual system homeobox 2 ; Symbol:VSX2 ; xref: GENATLAS:VSX2 ; xref: HGNC:1975 ; xref: OMIM:142993 ; xref: UNIPROTKB/SWISSPROT:P58304 ; xref: ENSEMBL:ENSG00000119614] OMIM:300345 EXACT Microphthalmia with colobomatous cyst Von Hippel anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13958 ICD10:Q13.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98941 Coloboma of choroid and retina ICD10:Q14.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13959 Recessive aplasia cutis congenita of limbs ICD10:Q84.8 OMIM:600360 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1396 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1115 Coloboma of eye lens Orphanet ID- 13960 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q12.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 Coloboma of iris prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q13.0 Orphanet ID- 13961 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 Coloboma of macula prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:120300 ICD10:Q14.8 Orphanet ID- 13962 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 Coloboma of eyelid Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946 Orphanet ID- 13963 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q10.3 Coloboma of optic papilla ICD10:Q14.2 Orphanet ID- 13964 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital symblepharon Orphanet ID- 13965 ICD10:Q11.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948 Complete cryptophthalmia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949 Orphanet ID- 13966 ICD10:Q11.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial cryptophthalmia Orphanet ID- 13967 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950 ICD10:Q11.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inverse Marcus-Gunn phenomenon prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951 Orphanet ID- 13968 Aplasia cutis congenita - intestinal lymphangiectasia Autosomal recessive aplasia cutis Bronspiegel-Zelnick syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 OMIM:207731 Autosomal recessive aplasia cutis Orphanet ID- 1397 Bronspiegel-Zelnick syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Autosomal recessive aplasia cutis EXACT Bronspiegel-Zelnick syndrome Meesmann corneal dystrophy Juvenile hereditary epithelial dystrophy of Meesmann MECD Gene [OrphaNum:122911 ; Name:Keratin 3 ; Symbol:KRT3 ; xref: GENATLAS:KRT3 ; xref: HGNC:6440 ; xref: OMIM:148043 ; xref: UNIPROTKB/SWISSPROT:P12035 ; xref: ENSEMBL:ENSG00000186442] Gene [OrphaNum:122894 ; Name:Keratin 12 (Meesmann corneal dystrophy) ; Symbol:KRT12 ; xref: GENATLAS:KRT12 ; xref: HGNC:6414 ; xref: OMIM:601687 ; xref: UNIPROTKB/SWISSPROT:Q99456 ; xref: ENSEMBL:ENSG00000187242] Orphanet ID- 13971 Juvenile hereditary epithelial dystrophy of Meesmann OMIM:122100 MECD prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954 EXACT MECD EXACT Juvenile hereditary epithelial dystrophy of Meesmann Lisch epithelial corneal dystrophy Band-shaped and whorled microcystic dystrophy of the corneal epithelium LECD prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300778 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955 Orphanet ID- 13972 LECD Band-shaped and whorled microcystic dystrophy of the corneal epithelium EXACT Band-shaped and whorled microcystic dystrophy of the corneal epithelium EXACT LECD Microcystic corneal dystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120056 ; Name:Transforming growth factor, beta-induced, 68kDa ; Symbol:TGFBI ; xref: GENATLAS:TGFBI ; xref: HGNC:11771 ; xref: OMIM:601692 ; xref: UNIPROTKB/SWISSPROT:Q15582 ; xref: ENSEMBL:ENSG00000120708 ; xref: REACTOME:Q15582] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956 OMIM:121820 Orphanet ID- 13973 Gelatinous drop-like corneal dystrophy GDCD Primary familial amyloidosis of the cornea Subepithelial amyloidosis of the cornea Subepithelial amyloidosis of the cornea OMIM:204870 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957 Primary familial amyloidosis of the cornea prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; GDCD Gene [OrphaNum:119910 ; Name:Tumor-associated calcium signal transducer 2 ; Symbol:TACSTD2 ; xref: GENATLAS:TACSTD2 ; xref: HGNC:11530 ; xref: OMIM:137290 ; xref: UNIPROTKB/SWISSPROT:P09758 ; xref: ENSEMBL:ENSG00000184292] Orphanet ID- 13974 EXACT Primary familial amyloidosis of the cornea EXACT Subepithelial amyloidosis of the cornea EXACT GDCD Honey-droplet corneal dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98958 Orphanet ID- 13975 Gene [OrphaNum:119910 ; Name:Tumor-associated calcium signal transducer 2 ; Symbol:TACSTD2 ; xref: GENATLAS:TACSTD2 ; xref: HGNC:11530 ; xref: OMIM:137290 ; xref: UNIPROTKB/SWISSPROT:P09758 ; xref: ENSEMBL:ENSG00000184292] OMIM:217520 OMIM:217500 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Subepithelial mucinous corneal dystrophy SMCD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959 Orphanet ID- 13976 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:612867 SMCD EXACT SMCD Thiel-Behnke corneal dystrophy Anterior limiting membrane dystrophy type II Corneal dystrophy of Bowman layer type II Curly fiber corneal dystrophy Honeycomb corneal dystrophy TBCD Waardenburg-Jonker corneal dystrophy Honeycomb corneal dystrophy prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13977 Waardenburg-Jonker corneal dystrophy Anterior limiting membrane dystrophy type II Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960 TBCD Gene [OrphaNum:120056 ; Name:Transforming growth factor, beta-induced, 68kDa ; Symbol:TGFBI ; xref: GENATLAS:TGFBI ; xref: HGNC:11771 ; xref: OMIM:601692 ; xref: UNIPROTKB/SWISSPROT:Q15582 ; xref: ENSEMBL:ENSG00000120708 ; xref: REACTOME:Q15582] Curly fiber corneal dystrophy OMIM:602082 Corneal dystrophy of Bowman layer type II EXACT Anterior limiting membrane dystrophy type II EXACT Corneal dystrophy of Bowman layer type II EXACT Curly fiber corneal dystrophy EXACT Honeycomb corneal dystrophy EXACT TBCD EXACT Waardenburg-Jonker corneal dystrophy Reis-Bücklers corneal dystrophy Anterior limiting membrane dystrophy type I Atypical granular corneal dystrophy Corneal dystrophy of Bowman layer type I Geographic corneal dystrophy Granular corneal dystrophy type III RBCD Superficial granular corneal dystrophy Anterior limiting membrane dystrophy type I RBCD OMIM:608470 Geographic corneal dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961 Superficial granular corneal dystrophy Orphanet ID- 13978 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120056 ; Name:Transforming growth factor, beta-induced, 68kDa ; Symbol:TGFBI ; xref: GENATLAS:TGFBI ; xref: HGNC:11771 ; xref: OMIM:601692 ; xref: UNIPROTKB/SWISSPROT:Q15582 ; xref: ENSEMBL:ENSG00000120708 ; xref: REACTOME:Q15582] Corneal dystrophy of Bowman layer type I Granular corneal dystrophy type III Atypical granular corneal dystrophy EXACT Atypical granular corneal dystrophy EXACT Granular corneal dystrophy type III EXACT Superficial granular corneal dystrophy EXACT RBCD EXACT Corneal dystrophy of Bowman layer type I EXACT Anterior limiting membrane dystrophy type I EXACT Geographic corneal dystrophy Granular corneal dystrophy type I Classic GCD Classic granular corneal dystrophy Corneal dystrophy Groenouw type I GCD1 GCDI Granular corneal dystrophy type 1 GCDI Gene [OrphaNum:120056 ; Name:Transforming growth factor, beta-induced, 68kDa ; Symbol:TGFBI ; xref: GENATLAS:TGFBI ; xref: HGNC:11771 ; xref: OMIM:601692 ; xref: UNIPROTKB/SWISSPROT:Q15582 ; xref: ENSEMBL:ENSG00000120708 ; xref: REACTOME:Q15582] Granular corneal dystrophy type 1 GCD1 Corneal dystrophy Groenouw type I Classic granular corneal dystrophy Orphanet ID- 13979 OMIM:121900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962 Classic GCD prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Corneal dystrophy Groenouw type I EXACT GCDI EXACT Granular corneal dystrophy type 1 EXACT Classic GCD EXACT GCD1 EXACT Classic granular corneal dystrophy Aplasia cutis - myopia Gershoni-Baruch-Leibo syndrome Gershoni-Baruch-Leibo syndrome OMIM:601075 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 Orphanet ID- 1398 EXACT Gershoni-Baruch-Leibo syndrome Granular corneal dystrophy type II Avellino corneal dystrophy GCD2 GCDII Granular corneal dystrophy type 2 Granular-lattice corneal dystrophy true Gene [OrphaNum:120056 ; Name:Transforming growth factor, beta-induced, 68kDa ; Symbol:TGFBI ; xref: GENATLAS:TGFBI ; xref: HGNC:11771 ; xref: OMIM:601692 ; xref: UNIPROTKB/SWISSPROT:Q15582 ; xref: ENSEMBL:ENSG00000120708 ; xref: REACTOME:Q15582] Granular corneal dystrophy type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963 Avellino corneal dystrophy Orphanet ID- 13980 OMIM:607541 GCD2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Granular-lattice corneal dystrophy GCDII EXACT GCDII EXACT Granular corneal dystrophy type 2 EXACT Granular-lattice corneal dystrophy EXACT Avellino corneal dystrophy EXACT GCD2 Lattice corneal dystrophy type I Biber-Haab-Dimmer dystrophy Classic lattice corneal dystrophy LCD1 LCDI Lattice corneal dystrophy type 1 OMIM:608471 Biber-Haab-Dimmer dystrophy LCD1 OMIM:122200 Lattice corneal dystrophy type 1 Classic lattice corneal dystrophy prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120056 ; Name:Transforming growth factor, beta-induced, 68kDa ; Symbol:TGFBI ; xref: GENATLAS:TGFBI ; xref: HGNC:11771 ; xref: OMIM:601692 ; xref: UNIPROTKB/SWISSPROT:Q15582 ; xref: ENSEMBL:ENSG00000120708 ; xref: REACTOME:Q15582] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964 LCDI Orphanet ID- 13981 EXACT Lattice corneal dystrophy type 1 EXACT Classic lattice corneal dystrophy EXACT LCDI EXACT LCD1 EXACT Biber-Haab-Dimmer dystrophy Lattice corneal dystrophy type II Corneal dystrophy, Meretoja type Familial amyloid polyneuropathy type IV Familial amyloidosis, Finnish type LCD2 LCDII Lattice corneal dystrophy type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98965 Lattice corneal dystrophy type 2 Familial amyloid polyneuropathy type IV prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13982 LCD2 Corneal dystrophy, Meretoja type Familial amyloidosis, Finnish type LCDII EXACT Familial amyloidosis, Finnish type EXACT Corneal dystrophy, Meretoja type EXACT LCDII EXACT Lattice corneal dystrophy type 2 EXACT Familial amyloid polyneuropathy type IV EXACT LCD2 Schnyder corneal dystrophy Crystalline stromal dystrophy Hereditary crystalline stromal dystrophy of Schnyder SCCD SCD Schnyder crystalline corneal dystrophy Schnyder crystalline dystrophy sine crystals prevalence- null; AgeOfOnset- null; AgeOfDeath-null; SCD Orphanet ID- 13984 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967 SCCD Schnyder crystalline dystrophy sine crystals Crystalline stromal dystrophy Schnyder crystalline corneal dystrophy Gene [OrphaNum:159547 ; Name:UbiA prenyltransferase domain containing 1 ; Symbol:UBIAD1 ; xref: GENATLAS:UBIAD1 ; xref: HGNC:30791 ; xref: OMIM:611632 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Z9 ; xref: ENSEMBL:ENSG00000120942] Hereditary crystalline stromal dystrophy of Schnyder OMIM:121800 EXACT Schnyder crystalline dystrophy sine crystals EXACT Crystalline stromal dystrophy EXACT Hereditary crystalline stromal dystrophy of Schnyder EXACT SCCD EXACT Schnyder crystalline corneal dystrophy EXACT SCD Central discoid corneal dystrophy Orphanet ID- 13985 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98968 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Macular corneal dystrophy Corneal dystrophy Groenouw type II Fehr corneal dystrophy MCD MCD Orphanet ID- 13986 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969 Gene [OrphaNum:119435 ; Name:Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 ; Symbol:CHST6 ; xref: GENATLAS:CHST6 ; xref: HGNC:6938 ; xref: OMIM:605294 ; xref: UNIPROTKB/SWISSPROT:Q9GZX3 ; xref: ENSEMBL:ENSG00000183196] OMIM:217800 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Fehr corneal dystrophy Corneal dystrophy Groenouw type II EXACT Corneal dystrophy Groenouw type II EXACT Fehr corneal dystrophy EXACT MCD Fleck corneal dystrophy FCD François-Neetens speckled corneal dystrophy Orphanet ID- 13987 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970 François-Neetens speckled corneal dystrophy Gene [OrphaNum:117825 ; Name:Phosphoinositide kinase, FYVE finger containing ; Symbol:PIKFYVE ; xref: GENATLAS:PIP5K3 ; xref: HGNC:23785 ; xref: OMIM:609414 ; xref: UNIPROTKB/SWISSPROT:Q9Y2I7 ; xref: ENSEMBL:ENSG00000115020] OMIM:121850 FCD prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT François-Neetens speckled corneal dystrophy EXACT FCD Posterior amorphous corneal dystrophy PACD Posterior amorphous stromal dystrophy Orphanet ID- 13988 OMIM:612868 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; PACD Posterior amorphous stromal dystrophy EXACT PACD EXACT Posterior amorphous stromal dystrophy Central cloudy dystrophy of Francois CCDF Central cloudy corneal dystrophy of Francois CCDF OMIM:217600 Central cloudy corneal dystrophy of Francois Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972 Orphanet ID- 13989 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Central cloudy corneal dystrophy of Francois EXACT CCDF Fibular aplasia - ectrodactyly prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 Orphanet ID- 1399 OMIM:113310 Posterior polymorphous corneal dystrophy PPCD Posterior polymorphous dystrophy Schlichting dystrophy Posterior polymorphous dystrophy OMIM:122000 PPCD Gene [OrphaNum:120743 ; Name:Collagen, type VIII, alpha 2 ; Symbol:COL8A2 ; xref: GENATLAS:COL8A2 ; xref: HGNC:2216 ; xref: OMIM:120252 ; xref: UNIPROTKB/SWISSPROT:P25067 ; xref: ENSEMBL:ENSG00000171812] Gene [OrphaNum:120483 ; Name:Visual system homeobox 1 ; Symbol:VSX1 ; xref: GENATLAS:VSX1 ; xref: HGNC:12723 ; xref: OMIM:605020 ; xref: UNIPROTKB/SWISSPROT:Q9NZR4 ; xref: ENSEMBL:ENSG00000100987] OMIM:609141 Schlichting dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 OMIM:609140 Orphanet ID- 13990 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120584 ; Name:Zinc finger E-box binding homeobox 1 ; Symbol:ZEB1 ; xref: GENATLAS:ZEB1 ; xref: HGNC:11642 ; xref: OMIM:189909 ; xref: UNIPROTKB/SWISSPROT:P37275 ; xref: ENSEMBL:ENSG00000148516] EXACT Schlichting dystrophy EXACT Posterior polymorphous dystrophy EXACT PPCD Fuchs endothelial corneal dystrophy Endoepithelial corneal dystrophy FECD Late hereditary endothelial dystrophy Late hereditary endothelial dystrophy Endoepithelial corneal dystrophy OMIM:613269 OMIM:613268 Gene [OrphaNum:120584 ; Name:Zinc finger E-box binding homeobox 1 ; Symbol:ZEB1 ; xref: GENATLAS:ZEB1 ; xref: HGNC:11642 ; xref: OMIM:189909 ; xref: UNIPROTKB/SWISSPROT:P37275 ; xref: ENSEMBL:ENSG00000148516] OMIM:613267 OMIM:610158 OMIM:613271 Gene [OrphaNum:119680 ; Name:Solute carrier family 4, sodium bicarbonate transporter-like, member 11 ; Symbol:SLC4A11 ; xref: GENATLAS:SLC4A11 ; xref: HGNC:16438 ; xref: OMIM:610206 ; xref: UNIPROTKB/SWISSPROT:Q8NBS3 ; xref: ENSEMBL:ENSG00000088836] Orphanet ID- 13991 OMIM:613270 FECD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974 Gene [OrphaNum:120743 ; Name:Collagen, type VIII, alpha 2 ; Symbol:COL8A2 ; xref: GENATLAS:COL8A2 ; xref: HGNC:2216 ; xref: OMIM:120252 ; xref: UNIPROTKB/SWISSPROT:P25067 ; xref: ENSEMBL:ENSG00000171812] OMIM:136800 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Endoepithelial corneal dystrophy EXACT Late hereditary endothelial dystrophy EXACT FECD Congenital hereditary endothelial dystrophy I Autosomal dominant CHED Autosomal dominant congenital hereditary endothelial dystrophy CHED1 CHEDI Congenital hereditary endothelial dystrophy 1 CHED1 Autosomal dominant congenital hereditary endothelial dystrophy OMIM:121700 CHEDI prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 13992 Autosomal dominant CHED Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98975 Congenital hereditary endothelial dystrophy 1 EXACT Autosomal dominant congenital hereditary endothelial dystrophy EXACT Autosomal dominant CHED EXACT CHED1 EXACT CHEDI EXACT Congenital hereditary endothelial dystrophy 1 Congenital glaucoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976 Orphanet ID- 13993 ICD10:Q15.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:189348 ; Name:Latent transforming growth factor beta binding protein 2 ; Symbol:LTBP2 ; xref: ENSEMBL:ENSG00000119681 ; xref: GENATLAS:LTBP2 ; xref: HGNC:6715 ; xref: OMIM:602091 ; xref: UNIPROTKB/SWISSPROT:Q14767] Gene [OrphaNum:123659 ; Name:Myocilin, trabecular meshwork inducible glucocorticoid response ; Symbol:MYOC ; xref: GENATLAS:MYOC ; xref: HGNC:7610 ; xref: OMIM:601652 ; xref: UNIPROTKB/SWISSPROT:Q99972 ; xref: ENSEMBL:ENSG00000034971] OMIM:613085 Gene [OrphaNum:120977 ; Name:Cytochrome P450, family 1, subfamily B, polypeptide 1 ; Symbol:CYP1B1 ; xref: GENATLAS:CYP1B1 ; xref: HGNC:2597 ; xref: OMIM:601771 ; xref: UNIPROTKB/SWISSPROT:Q16678 ; xref: ENSEMBL:ENSG00000138061 ; xref: REACTOME:Q16678] OMIM:600975 OMIM:613086 Gene [OrphaNum:124021 ; Name:Optineurin ; Symbol:OPTN ; xref: GENATLAS:OPTN ; xref: HGNC:17142 ; xref: OMIM:602432 ; xref: UNIPROTKB/SWISSPROT:Q96CV9 ; xref: ENSEMBL:ENSG00000123240] OMIM:231300 Juvenile glaucoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:610535 Orphanet ID- 13994 OMIM:611274 Gene [OrphaNum:120977 ; Name:Cytochrome P450, family 1, subfamily B, polypeptide 1 ; Symbol:CYP1B1 ; xref: GENATLAS:CYP1B1 ; xref: HGNC:2597 ; xref: OMIM:601771 ; xref: UNIPROTKB/SWISSPROT:Q16678 ; xref: ENSEMBL:ENSG00000138061 ; xref: REACTOME:Q16678] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977 OMIM:137750 Gene [OrphaNum:123659 ; Name:Myocilin, trabecular meshwork inducible glucocorticoid response ; Symbol:MYOC ; xref: GENATLAS:MYOC ; xref: HGNC:7610 ; xref: OMIM:601652 ; xref: UNIPROTKB/SWISSPROT:Q99972 ; xref: ENSEMBL:ENSG00000034971] Axenfeld's anomaly OMIM:602482 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13995 OMIM:601631 ICD10:Q13.8 Gene [OrphaNum:121883 ; Name:Forkhead box C1 ; Symbol:FOXC1 ; xref: ENSEMBL:ENSG00000054598 ; xref: GENATLAS:FOXC1 ; xref: HGNC:3800 ; xref: OMIM:601090 ; xref: UNIPROTKB/SWISSPROT:Q12948] Gene [OrphaNum:117832 ; Name:Paired-like homeodomain 2 ; Symbol:PITX2 ; xref: GENATLAS:PITX2 ; xref: HGNC:9005 ; xref: OMIM:601542 ; xref: UNIPROTKB/SWISSPROT:Q99697 ; xref: ENSEMBL:ENSG00000164093] Chandler syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13996 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979 Cogan-Reese syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 13997 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980 Essential iris atrophy Orphanet ID- 13998 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Glycogen storage disease type 2 Acid maltase deficiency Alpha-1,4-glucosidase acid deficiency GSD type 2 Pompe disease Type 2 glycogenosis Type 2 glycogenosis Pompe disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 Gene [OrphaNum:121987 ; Name:Glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) ; Symbol:GAA ; xref: ENSEMBL:ENSG00000171298 ; xref: GENATLAS:GAA ; xref: HGNC:4065 ; xref: OMIM:606800 ; xref: UNIPROTKB/SWISSPROT:P10253] OMIM:232300 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 14 ICD10:E74.0 GSD type 2 Alpha-1,4-glucosidase acid deficiency Acid maltase deficiency EXACT Alpha-1,4-glucosidase acid deficiency EXACT GSD type 2 EXACT Pompe disease EXACT Type 2 glycogenosis EXACT Acid maltase deficiency Lung agenesis - heart defect - thumb anomalies Mardini--Nyhan syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Mardini--Nyhan syndrome OMIM:601612 Orphanet ID- 1400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 EXACT Mardini--Nyhan syndrome Congenital cataract, Volkmann type ICD10:Q12.0 OMIM:115665 Orphanet ID- 14000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98983 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Pulverulent cataract OMIM:154045 Gene [OrphaNum:123359 ; Name:Crystallin, beta B1 ; Symbol:CRYBB1 ; xref: GENATLAS:CRYBB1 ; xref: HGNC:2397 ; xref: OMIM:600929 ; xref: UNIPROTKB/SWISSPROT:P53674 ; xref: ENSEMBL:ENSG00000100122] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984 OMIM:123680 Gene [OrphaNum:159976 ; Name:Lens intrinsic membrane protein 2, 19kDa ; Symbol:LIM2 ; xref: GENATLAS:LIM2 ; xref: HGNC:6610 ; xref: OMIM:154045 ; xref: UNIPROTKB/SWISSPROT:P55344 ; xref: ENSEMBL:ENSG00000105370] Gene [OrphaNum:122114 ; Name:Gap junction protein, alpha 3, 46kDa ; Symbol:GJA3 ; xref: GENATLAS:GJA3 ; xref: HGNC:4277 ; xref: OMIM:121015 ; xref: UNIPROTKB/SWISSPROT:Q9Y6H8 ; xref: ENSEMBL:ENSG00000121743 ; xref: REACTOME:Q9Y6H8] OMIM:600929 OMIM:601885 Gene [OrphaNum:122118 ; Name:Gap junction protein, alpha 8, 50kDa ; Symbol:GJA8 ; xref: GENATLAS:GJA8 ; xref: HGNC:4281 ; xref: OMIM:600897 ; xref: UNIPROTKB/SWISSPROT:P48165 ; xref: ENSEMBL:ENSG00000121634 ; xref: REACTOME:P48165] Gene [OrphaNum:140567 ; Name:V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) ; Symbol:MAF ; xref: GENATLAS:MAF ; xref: HGNC:6776 ; xref: OMIM:177075 ; xref: UNIPROTKB/SWISSPROT:O75444 ; xref: ENSEMBL:ENSG00000178573] Orphanet ID- 14001 Gene [OrphaNum:233060 ; Name:Vimentin ; Symbol:VIM ; xref: REACTOME:P08670 ; xref: ENSEMBL:ENSG00000026025 ; xref: HGNC:12692 ; xref: GENATLAS:VIM ; xref: OMIM:193060 ; xref: UNIPROTKB/SWISSPROT:P08670] Gene [OrphaNum:120849 ; Name:Crystallin, gamma C ; Symbol:CRYGC ; xref: GENATLAS:CRYGC ; xref: HGNC:2410 ; xref: OMIM:123680 ; xref: UNIPROTKB/SWISSPROT:P07315 ; xref: ENSEMBL:ENSG00000163254] OMIM:605749 OMIM:610202 ICD10:Q12.0 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Cataract with Y-shaped suture opacities Gene [OrphaNum:120836 ; Name:Crystallin, beta A1 ; Symbol:CRYBA1 ; xref: GENATLAS:CRYBA1 ; xref: HGNC:2394 ; xref: OMIM:123610 ; xref: UNIPROTKB/SWISSPROT:P05813 ; xref: ENSEMBL:ENSG00000108255] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985 Orphanet ID- 14002 OMIM:605728 ICD10:Q12.0 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:607133 Gene [OrphaNum:120841 ; Name:Crystallin, beta B2 ; Symbol:CRYBB2 ; xref: GENATLAS:CRYBB2 ; xref: HGNC:2398 ; xref: OMIM:123620 ; xref: UNIPROTKB/SWISSPROT:P43320 ; xref: ENSEMBL:ENSG00000244752] OMIM:600881 Cataract, Coppock-like OMIM:604307 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:Q12.0 Gene [OrphaNum:120849 ; Name:Crystallin, gamma C ; Symbol:CRYGC ; xref: GENATLAS:CRYGC ; xref: HGNC:2410 ; xref: OMIM:123680 ; xref: UNIPROTKB/SWISSPROT:P07315 ; xref: ENSEMBL:ENSG00000163254] Gene [OrphaNum:120852 ; Name:Crystallin, gamma D ; Symbol:CRYGD ; xref: GENATLAS:CRYGD ; xref: HGNC:2411 ; xref: OMIM:123690 ; xref: UNIPROTKB/SWISSPROT:P07320 ; xref: ENSEMBL:ENSG00000118231] Gene [OrphaNum:120841 ; Name:Crystallin, beta B2 ; Symbol:CRYBB2 ; xref: GENATLAS:CRYBB2 ; xref: HGNC:2398 ; xref: OMIM:123620 ; xref: UNIPROTKB/SWISSPROT:P43320 ; xref: ENSEMBL:ENSG00000244752] Orphanet ID- 14003 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98986 Cataract, Hutterite type Orphanet ID- 14004 ICD10:Q12.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98987 OMIM:212500 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Anterior polar cataract Anterior subcapsular cataract Gene [OrphaNum:140565 ; Name:Cataract, anterior polar 1 gene ; Symbol:CTAA1 ; xref: GENATLAS:CTAA1 ; xref: HGNC:2489 ; xref: OMIM:115650] OMIM:601202 Anterior subcapsular cataract ICD10:Q12.0 OMIM:115650 Orphanet ID- 14005 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988 EXACT Anterior subcapsular cataract Cerulean cataract ICD10:Q12.0 OMIM:115660 Gene [OrphaNum:140567 ; Name:V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) ; Symbol:MAF ; xref: GENATLAS:MAF ; xref: HGNC:6776 ; xref: OMIM:177075 ; xref: UNIPROTKB/SWISSPROT:O75444 ; xref: ENSEMBL:ENSG00000178573] prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Gene [OrphaNum:120841 ; Name:Crystallin, beta B2 ; Symbol:CRYBB2 ; xref: GENATLAS:CRYBB2 ; xref: HGNC:2398 ; xref: OMIM:123620 ; xref: UNIPROTKB/SWISSPROT:P43320 ; xref: ENSEMBL:ENSG00000244752] Orphanet ID- 14006 Gene [OrphaNum:120852 ; Name:Crystallin, gamma D ; Symbol:CRYGD ; xref: GENATLAS:CRYGD ; xref: HGNC:2411 ; xref: OMIM:123690 ; xref: UNIPROTKB/SWISSPROT:P07320 ; xref: ENSEMBL:ENSG00000118231] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 OMIM:601547 OMIM:610202 OMIM:608983 OMIM:614422 Coralliform cataract OMIM:115800 ICD10:Q12.0 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Gene [OrphaNum:120852 ; Name:Crystallin, gamma D ; Symbol:CRYGD ; xref: GENATLAS:CRYGD ; xref: HGNC:2411 ; xref: OMIM:123690 ; xref: UNIPROTKB/SWISSPROT:P07320 ; xref: ENSEMBL:ENSG00000118231] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990 Orphanet ID- 14007 Nuclear cataract OMIM:601371 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:116300 Gene [OrphaNum:123359 ; Name:Crystallin, beta B1 ; Symbol:CRYBB1 ; xref: GENATLAS:CRYBB1 ; xref: HGNC:2397 ; xref: OMIM:600929 ; xref: UNIPROTKB/SWISSPROT:P53674 ; xref: ENSEMBL:ENSG00000100122] OMIM:123580 ICD10:Q12.0 OMIM:607304 Gene [OrphaNum:120841 ; Name:Crystallin, beta B2 ; Symbol:CRYBB2 ; xref: GENATLAS:CRYBB2 ; xref: HGNC:2398 ; xref: OMIM:123620 ; xref: UNIPROTKB/SWISSPROT:P43320 ; xref: ENSEMBL:ENSG00000244752] Gene [OrphaNum:270347 ; Name:FYVE and coiled-coil domain containing 1 ; Symbol:FYCO1 ; xref: ENSEMBL:ENSG00000163820 ; xref: HGNC:14673 ; xref: OMIM:607182 ; xref: GENATLAS:FYCO1 ; xref: UNIPROTKB/SWISSPROT:Q9BQS8] OMIM:609376 OMIM:116400 Gene [OrphaNum:120828 ; Name:Crystallin, alpha A ; Symbol:CRYAA ; xref: UNIPROTKB/SWISSPROT:P02489 ; xref: GENATLAS:CRYAA ; xref: HGNC:2388 ; xref: OMIM:123580 ; xref: ENSEMBL:ENSG00000160202] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991 Gene [OrphaNum:120852 ; Name:Crystallin, gamma D ; Symbol:CRYGD ; xref: GENATLAS:CRYGD ; xref: HGNC:2411 ; xref: OMIM:123690 ; xref: UNIPROTKB/SWISSPROT:P07320 ; xref: ENSEMBL:ENSG00000118231] Gene [OrphaNum:123783 ; Name:Nance-Horan syndrome (congenital cataracts and dental anomalies) ; Symbol:NHS ; xref: ENSEMBL:ENSG00000188158 ; xref: GENATLAS:NHS ; xref: HGNC:7820 ; xref: OMIM:300457 ; xref: UNIPROTKB/SWISSPROT:Q6T4R5] OMIM:611544 Orphanet ID- 14008 OMIM:600897 OMIM:609741 Partial congenital cataract prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 14009 Gene [OrphaNum:119034 ; Name:Beaded filament structural protein 2, phakinin ; Symbol:BFSP2 ; xref: GENATLAS:BFSP2 ; xref: HGNC:1041 ; xref: OMIM:603212 ; xref: UNIPROTKB/SWISSPROT:Q13515 ; xref: ENSEMBL:ENSG00000170819] ICD10:Q12.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992 Radial deficiency - tibial hypoplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 Orphanet ID- 1401 Posterior polar cataract Posterior subcapsular cataract Posterior subcapsular cataract OMIM:613763 OMIM:610634 Gene [OrphaNum:209474 ; Name:EPH receptor A2 ; Symbol:EPHA2 ; xref: ENSEMBL:ENSG00000142627 ; xref: GENATLAS:EPHA2 ; xref: HGNC:3386 ; xref: OMIM:176946 ; xref: UNIPROTKB/SWISSPROT:P29317] OMIM:612968 OMIM:116600 ICD10:Q12.0 Gene [OrphaNum:117844 ; Name:Paired-like homeodomain 3 ; Symbol:PITX3 ; xref: OMIM:602669 ; xref: UNIPROTKB/SWISSPROT:O75364 ; xref: GENATLAS:PITX3 ; xref: HGNC:9006 ; xref: ENSEMBL:ENSG00000107859] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 14010 Gene [OrphaNum:120832 ; Name:Crystallin, alpha B ; Symbol:CRYAB ; xref: GENATLAS:CRYAB ; xref: HGNC:2389 ; xref: OMIM:123590 ; xref: UNIPROTKB/SWISSPROT:P02511 ; xref: ENSEMBL:ENSG00000109846] Gene [OrphaNum:139158 ; Name:Chromatin modifying protein 4B ; Symbol:CHMP4B ; xref: GENATLAS:CHMP4B ; xref: HGNC:16171 ; xref: OMIM:610897 ; xref: UNIPROTKB/SWISSPROT:Q9H444 ; xref: ENSEMBL:ENSG00000101421 ; xref: REACTOME:Q9H444] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993 OMIM:610623 OMIM:605387 EXACT Posterior subcapsular cataract Total congenital cataract OMIM:116700 Gene [OrphaNum:209474 ; Name:EPH receptor A2 ; Symbol:EPHA2 ; xref: ENSEMBL:ENSG00000142627 ; xref: GENATLAS:EPHA2 ; xref: HGNC:3386 ; xref: OMIM:176946 ; xref: UNIPROTKB/SWISSPROT:P29317] OMIM:302200 Gene [OrphaNum:123783 ; Name:Nance-Horan syndrome (congenital cataracts and dental anomalies) ; Symbol:NHS ; xref: ENSEMBL:ENSG00000188158 ; xref: GENATLAS:NHS ; xref: HGNC:7820 ; xref: OMIM:300457 ; xref: UNIPROTKB/SWISSPROT:Q6T4R5] Orphanet ID- 14011 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:Q12.0 OMIM:116100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994 Zonular cataract Lamellar cataract Gene [OrphaNum:120852 ; Name:Crystallin, gamma D ; Symbol:CRYGD ; xref: GENATLAS:CRYGD ; xref: HGNC:2411 ; xref: OMIM:123690 ; xref: UNIPROTKB/SWISSPROT:P07320 ; xref: ENSEMBL:ENSG00000118231] Gene [OrphaNum:123238 ; Name:Major intrinsic protein of lens fiber ; Symbol:MIP ; xref: GENATLAS:MIP ; xref: HGNC:7103 ; xref: OMIM:154050 ; xref: UNIPROTKB/SWISSPROT:P30301 ; xref: ENSEMBL:ENSG00000135517 ; xref: REACTOME:P30301] Gene [OrphaNum:120832 ; Name:Crystallin, alpha B ; Symbol:CRYAB ; xref: GENATLAS:CRYAB ; xref: HGNC:2389 ; xref: OMIM:123590 ; xref: UNIPROTKB/SWISSPROT:P02511 ; xref: ENSEMBL:ENSG00000109846] Gene [OrphaNum:120836 ; Name:Crystallin, beta A1 ; Symbol:CRYBA1 ; xref: GENATLAS:CRYBA1 ; xref: HGNC:2394 ; xref: OMIM:123610 ; xref: UNIPROTKB/SWISSPROT:P05813 ; xref: ENSEMBL:ENSG00000108255] OMIM:123580 OMIM:116800 Gene [OrphaNum:120828 ; Name:Crystallin, alpha A ; Symbol:CRYAA ; xref: UNIPROTKB/SWISSPROT:P02489 ; xref: GENATLAS:CRYAA ; xref: HGNC:2388 ; xref: OMIM:123580 ; xref: ENSEMBL:ENSG00000160202] Lamellar cataract OMIM:116200 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995 Gene [OrphaNum:120849 ; Name:Crystallin, gamma C ; Symbol:CRYGC ; xref: GENATLAS:CRYGC ; xref: HGNC:2410 ; xref: OMIM:123680 ; xref: UNIPROTKB/SWISSPROT:P07315 ; xref: ENSEMBL:ENSG00000163254] ICD10:Q12.0 Gene [OrphaNum:122520 ; Name:Heat shock transcription factor 4 ; Symbol:HSF4 ; xref: GENATLAS:HSF4 ; xref: HGNC:5227 ; xref: OMIM:602438 ; xref: UNIPROTKB/SWISSPROT:Q9ULV5 ; xref: ENSEMBL:ENSG00000102878] Gene [OrphaNum:120839 ; Name:Crystallin, beta A4 ; Symbol:CRYBA4 ; xref: GENATLAS:CRYBA4 ; xref: HGNC:2396 ; xref: OMIM:123631 ; xref: UNIPROTKB/SWISSPROT:P53673 ; xref: ENSEMBL:ENSG00000196431] Orphanet ID- 14012 OMIM:610425 EXACT Lamellar cataract Adult-onset foveomacular vitelliform dystrophy prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000 Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619] OMIM:608161 Gene [OrphaNum:119029 ; Name:Bestrophin 1 ; Symbol:BEST1 ; xref: OMIM:607854 ; xref: UNIPROTKB/SWISSPROT:O76090 ; xref: GENATLAS:BEST1 ; xref: HGNC:12703 ; xref: ENSEMBL:ENSG00000167995] Orphanet ID- 14017 Butterfly-shaped pigment dystrophy Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619] OMIM:169150 Orphanet ID- 14018 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001 OMIM:608970 Reticular dystrophy of the retinal pigment epithelium prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:179840 OMIM:267800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002 Orphanet ID- 14019 Ulnar hypoplasia - lobster-claw deformity of feet Van de berghe-Dequeker syndrome Orphanet ID- 1402 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:314360 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 Van de berghe-Dequeker syndrome EXACT Van de berghe-Dequeker syndrome Multifocal pattern dystrophy simulating fundus flavimaculatus Orphanet ID- 14020 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003 Fundus pulverulentus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99004 Orphanet ID- 14021 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive optic atrophy, OPA6 type Congenital or early infantile optic atrophy Congenital or early infantile optic atrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:258500 Orphanet ID- 14029 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99012 EXACT Congenital or early infantile optic atrophy Autosomal recessive spastic paraplegia type 7 SPG7 Gene [OrphaNum:119829 ; Name:Spastic paraplegia 7 (pure and complicated autosomal recessive) ; Symbol:SPG7 ; xref: GENATLAS:SPG7 ; xref: HGNC:11237 ; xref: OMIM:602783 ; xref: UNIPROTKB/SWISSPROT:Q9UQ90 ; xref: ENSEMBL:ENSG00000197912] OMIM:607259 OMIM:600146 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 14030 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 ICD10:G11.4 SPG7 EXACT SPG7 X-linked Charcot-Marie-Tooth disease type 5 CMT5X OMIM:311070 ICD10:G60.0 Orphanet ID- 14031 CMT5X Gene [OrphaNum:118076 ; Name:Phosphoribosyl pyrophosphate synthetase 1 ; Symbol:PRPS1 ; xref: GENATLAS:PRPS1 ; xref: HGNC:9462 ; xref: OMIM:311850 ; xref: UNIPROTKB/SWISSPROT:P60891 ; xref: ENSEMBL:ENSG00000147224 ; xref: REACTOME:P60891] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 EXACT CMT5X Spastic paraplegia type 2 SPG2 Spastic gait type 2 Spastic paraparesis type 2 X-linked spastic paraplegia type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 Orphanet ID- 14032 ICD10:G11.4 SPG2 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive; Spastic gait type 2 OMIM:312920 Spastic paraparesis type 2 X-linked spastic paraplegia type 2 EXACT Spastic gait type 2 EXACT X-linked spastic paraplegia type 2 EXACT SPG2 EXACT Spastic paraparesis type 2 Niemann-Pick disease type E Orphanet ID- 14039 OMIM:607616 ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99022 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Ocular motor apraxia, Cogan type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1404 ICD10:F82 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125 OMIM:257550 Adult-onset autosomal dominant leukodystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:169500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 Gene [OrphaNum:123095 ; Name:Lamin B1 ; Symbol:LMNB1 ; xref: GENATLAS:LMNB1 ; xref: HGNC:6637 ; xref: OMIM:150340 ; xref: UNIPROTKB/SWISSPROT:P20700 ; xref: ENSEMBL:ENSG00000113368 ; xref: REACTOME:P20700] Orphanet ID- 14044 ICD10:E75.2 Aprosencephaly cerebellar dysgenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 Orphanet ID- 1405 OMIM:601374 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q04.3 Congenitally uncorrected transposition of the great arteries with coarctation Congenitally uncorrected transposition of the great vessels with coarctation TGA with coarctation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042 TGA with coarctation prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 14059 Congenitally uncorrected transposition of the great vessels with coarctation ICD10:Q20.3 EXACT Congenitally uncorrected transposition of the great vessels with coarctation EXACT TGA with coarctation Double outlet right ventricle, Fallot type DORV, Fallot type ICD10:Q21.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; DORV, Fallot type Orphanet ID- 14060 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043 ICD10:Q20.1 EXACT DORV, Fallot type Double outlet right ventricle with subaortic ventricular septal defect ICD10:Q20.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99044 Orphanet ID- 14061 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Double outlet right ventricle with subpulmonary ventricular septal defect ICD10:Q20.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14062 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect ICD10:Q20.1 Orphanet ID- 14063 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046 Double outlet right ventricle with doubly committed ventricular septal defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99047 Orphanet ID- 14064 ICD10:Q20.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X-linked mandibulofacial dysostosis Mandibulofacial dysostosis, Toriello type X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies ICD10:Q75.4 Mandibulofacial dysostosis, Toriello type X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 OMIM:301950 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 1408 EXACT Mandibulofacial dysostosis, Toriello type EXACT X-linked mandibulofacial dysostosis with limb anomalies EXACT X-linked branchial arch syndrome AREDYLD syndrome Acrorenal defect - ectodermal dysplasia - diabetes Acrorenal defect - ectodermal dysplasia - diabetes prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Orphanet ID- 1409 OMIM:207780 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 EXACT Acrorenal defect - ectodermal dysplasia - diabetes Atrial septal defect, ostium secundum type ASD, ostium secundum type Gene [OrphaNum:237462 ; Name:T-box 20 ; Symbol:TBX20 ; xref: ENSEMBL:ENSG00000164532 ; xref: OMIM:606061 ; xref: UNIPROTKB/SWISSPROT:Q9UMR3 ; xref: HGNC:11598 ; xref: GENATLAS:TBX20] OMIM:611363 OMIM:108800 OMIM:614089 OMIM:614475 OMIM:614433 Gene [OrphaNum:123797 ; Name:NK2 transcription factor related, locus 5 (Drosophila) ; Symbol:NKX2-5 ; xref: GENATLAS:NKX2-5 ; xref: HGNC:2488 ; xref: OMIM:600584 ; xref: UNIPROTKB/SWISSPROT:P52952 ; xref: ENSEMBL:ENSG00000183072] Gene [OrphaNum:122035 ; Name:GATA binding protein 4 ; Symbol:GATA4 ; xref: GENATLAS:GATA4 ; xref: HGNC:4173 ; xref: OMIM:600576 ; xref: UNIPROTKB/SWISSPROT:P43694 ; xref: ENSEMBL:ENSG00000136574 ; xref: REACTOME:P43694] Gene [OrphaNum:123619 ; Name:Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) ; Symbol:MYH6 ; xref: REACTOME:P13533 ; xref: GENATLAS:MYH6 ; xref: HGNC:7576 ; xref: OMIM:160710 ; xref: UNIPROTKB/SWISSPROT:P13533 ; xref: ENSEMBL:ENSG00000197616] Gene [OrphaNum:117753 ; Name:Actin, alpha, cardiac muscle 1 ; Symbol:ACTC1 ; xref: GENATLAS:ACTC1 ; xref: HGNC:143 ; xref: OMIM:102540 ; xref: UNIPROTKB/SWISSPROT:P68032 ; xref: ENSEMBL:ENSG00000159251 ; xref: REACTOME:P68032] Orphanet ID- 14120 Gene [OrphaNum:291853 ; Name:GATA binding protein 6 ; Symbol:GATA6 ; xref: GENATLAS:GATA6 ; xref: HGNC:4174 ; xref: OMIM:601656 ; xref: ENSEMBL:ENSG00000141448 ; xref: UNIPROTKB/SWISSPROT:Q92908] ASD, ostium secundum type OMIM:613087 OMIM:607941 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q21.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103 Gene [OrphaNum:240691 ; Name:Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ; Symbol:CITED2 ; xref: OMIM:602937 ; xref: UNIPROTKB/SWISSPROT:Q99967 ; xref: GENATLAS:CITED2 ; xref: HGNC:1987 ; xref: ENSEMBL:ENSG00000164442] Gene [OrphaNum:237464 ; Name:Tolloid-like 1 ; Symbol:TLL1 ; xref: ENSEMBL:ENSG00000038295 ; xref: HGNC:11843 ; xref: GENATLAS:TLL1 ; xref: UNIPROTKB/SWISSPROT:O43897 ; xref: OMIM:606742] OMIM:612794 EXACT ASD, ostium secundum type Atrial septal defect, coronary sinus type ASD, coronary sinus type Unroofed coronary sinus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Unroofed coronary sinus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104 ASD, coronary sinus type Orphanet ID- 14121 ICD10:Q21.2 EXACT ASD, coronary sinus type EXACT Unroofed coronary sinus Atrial septal defect, sinus venosus type ASD, sinus venosus type ICD10:Q21.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ASD, sinus venosus type Orphanet ID- 14122 Gene [OrphaNum:240691 ; Name:Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ; Symbol:CITED2 ; xref: OMIM:602937 ; xref: UNIPROTKB/SWISSPROT:Q99967 ; xref: GENATLAS:CITED2 ; xref: HGNC:1987 ; xref: ENSEMBL:ENSG00000164442] OMIM:614433 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105 EXACT ASD, sinus venosus type Atrial septal defect, ostium primum type ASD, ostium primum type OMIM:108800 ASD, ostium primum type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14123 ICD10:Q21.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106 Gene [OrphaNum:237464 ; Name:Tolloid-like 1 ; Symbol:TLL1 ; xref: ENSEMBL:ENSG00000038295 ; xref: HGNC:11843 ; xref: GENATLAS:TLL1 ; xref: UNIPROTKB/SWISSPROT:O43897 ; xref: OMIM:606742] OMIM:613087 EXACT ASD, ostium primum type Atrial septum aneurysm ICD10:Q21.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14124 Patent foramen ovale Orphanet ID- 14125 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99108 ICD10:Q21.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Arthrogryposis-like hand anomaly - sensorineural deafness Distal arthrogryposis type 6 Orphanet ID- 1413 OMIM:108200 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q68.1 Distal arthrogryposis type 6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 EXACT Distal arthrogryposis type 6 X-linked distal arthrogryposis multiplex congenita SMAX2 Spinal muscular atrophy with arthrogryposis X-linked infantile spinal muscular atrophy X-linked spinal muscular atrophy type 2 X-linked spinal muscular atrophy type 2 SMAX2 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; ICD10:Q12.1 Spinal muscular atrophy with arthrogryposis Gene [OrphaNum:140036 ; Name:Ubiquitin-like modifier activating enzyme 1 ; Symbol:UBA1 ; xref: GENATLAS:UBA1 ; xref: HGNC:12469 ; xref: OMIM:314370 ; xref: UNIPROTKB/SWISSPROT:P22314 ; xref: REACTOME:P22314 ; xref: ENSEMBL:ENSG00000130985] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 OMIM:301830 X-linked infantile spinal muscular atrophy Orphanet ID- 1414 EXACT SMAX2 EXACT X-linked infantile spinal muscular atrophy EXACT X-linked spinal muscular atrophy type 2 EXACT Spinal muscular atrophy with arthrogryposis Congenital partial pulmonary venous return anomaly ICD10:Q26.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 Orphanet ID- 14141 Congenital total pulmonary venous return anomaly ICD10:Q26.2 OMIM:106700 Orphanet ID- 14142 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 Pulmonary vein atresia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 Orphanet ID- 14143 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Intermediate stomatocytosis syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99134 Orphanet ID- 14151 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 6-phosphogluconate dehydrogenase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D55.1 Orphanet ID- 14152 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:D55.3 Orphanet ID- 14155 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 Unstable hemoglobin disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99139 Orphanet ID- 14156 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Posterior choanal atresia - lymphedema syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14158 Arthrogryposis-like syndrome Kuskokwim disease OMIM:208200 Orphanet ID- 1416 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Kuskokwim disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 EXACT Kuskokwim disease Arthrogryposis multiplex congenita - whistling face Illum syndrome ICD10:Q87.8 Illum syndrome OMIM:208155 Orphanet ID- 1417 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; EXACT Illum syndrome Epiblepharon prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14186 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169 Tarsal kink syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170 Orphanet ID- 14187 Isolated congenital ectropion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171 Orphanet ID- 14188 Euryblepharon Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172 Orphanet ID- 14189 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital eyelid retraction Orphanet ID- 14193 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176 Isolated distichiasis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q10.3 OMIM:126300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177 Orphanet ID- 14194 Kandori's fleck retina Orphanet ID- 14196 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:228990 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179 Monosomy X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 Orphanet ID- 14199 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X-linked agammaglobulinemia BTK-deficiency Bruton type agammaglobulinemia Bruton type agammaglobulinemia Orphanet ID- 142 BTK-deficiency OMIM:300755 Gene [OrphaNum:119094 ; Name:Bruton agammaglobulinemia tyrosine kinase ; Symbol:BTK ; xref: ENSEMBL:ENSG00000010671 ; xref: REACTOME:Q06187 ; xref: GENATLAS:BTK ; xref: HGNC:1133 ; xref: OMIM:300300 ; xref: UNIPROTKB/SWISSPROT:Q06187] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47 OMIM:300310 ICD10:D80.0 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Bruton type agammaglobulinemia EXACT BTK-deficiency Mosaic monosomy X Orphanet ID- 14200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 Paternal uniparental disomy of chromosome 13 UPD(13)pat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324 Orphanet ID- 14201 ICD10:Q99.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; UPD(13)pat EXACT UPD(13)pat 48,XYYY syndrome ICD10:Q98.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 Orphanet ID- 14202 49,XYYYY syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q98.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330 Orphanet ID- 14203 Familial medullary thyroid carcinoma Familial MTC Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361 Orphanet ID- 14205 Familial MTC Gene [OrphaNum:123961 ; Name:Neurotrophic tyrosine kinase, receptor, type 1 ; Symbol:NTRK1 ; xref: GENATLAS:NTRK1 ; xref: HGNC:8031 ; xref: OMIM:191315 ; xref: UNIPROTKB/SWISSPROT:P04629 ; xref: ENSEMBL:ENSG00000198400 ; xref: REACTOME:P04629] Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:C73 EXACT Familial MTC Pituitary adenoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14209 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99408 Turner syndrome due to structural X chromosome anomalies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 Orphanet ID- 14210 Complete androgen insensitivity syndrome CAIS Complete androgen resistance syndrome ICD10:E34.5 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 Complete androgen resistance syndrome CAIS OMIM:300068 Gene [OrphaNum:132285 ; Name:Androgen receptor ; Symbol:AR ; xref: GENATLAS:AR ; xref: HGNC:644 ; xref: OMIM:313700 ; xref: UNIPROTKB/SWISSPROT:P10275 ; xref: IUPHAR:628 ; xref: ENSEMBL:ENSG00000169083 ; xref: REACTOME:P10275] Orphanet ID- 14212 OMIM:300274 EXACT CAIS EXACT Complete androgen resistance syndrome Spondyloepimetaphyseal dysplasia, Handigodu type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642 OMIM:613343 Orphanet ID- 14215 ICD10:Q77.7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Dappled diaphyseal dysplasia Orphanet ID- 14218 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99645 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria Orphanet ID- 14219 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:299152 ; Name:Isocitrate dehydrogenase 1 (NADP+), soluble ; Symbol:IDH1 ; xref: HGNC:5382 ; xref: OMIM:147700 ; xref: GENATLAS:IDH1 ; xref: UNIPROTKB/SWISSPROT:O75874] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646 Cheiro-spondyloenchondromatosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99647 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14220 Progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia tarda - progressive arthropathy prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1423 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 Spondyloepiphyseal dysplasia tarda - progressive arthropathy ICD10:Q77.7 Gene [OrphaNum:120528 ; Name:WNT1 inducible signaling pathway protein 3 ; Symbol:WISP3 ; xref: GENATLAS:WISP3 ; xref: HGNC:12771 ; xref: OMIM:603400 ; xref: UNIPROTKB/SWISSPROT:O95389 ; xref: ENSEMBL:ENSG00000112761] OMIM:208230 EXACT Spondyloepiphyseal dysplasia tarda - progressive arthropathy Primary dystonia, DYT2 type DYT2 OMIM:224500 OMIM:612406 Orphanet ID- 14230 DYT2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; ICD10:G24.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657 EXACT DYT2 Chylous ascites Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1160 OMIM:208300 ICD10:I89.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1424 Asymmetric crying facies Cardiofacial syndrome Cayler syndrome Partial unilateral facial paresis Cayler syndrome Partial unilateral facial paresis Cardiofacial syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166 OMIM:125520 ICD10:Q87.0 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1426 EXACT Partial unilateral facial paresis EXACT Cayler syndrome EXACT Cardiofacial syndrome Ataxia - oculomotor apraxia type 1 AOA1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 ICD10:G11.3 Orphanet ID- 1427 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:208920 AOA1 Gene [OrphaNum:121402 ; Name:Aprataxin ; Symbol:APTX ; xref: GENATLAS:APTX ; xref: HGNC:15984 ; xref: OMIM:606350 ; xref: UNIPROTKB/SWISSPROT:Q7Z2E3 ; xref: ENSEMBL:ENSG00000137074] EXACT AOA1 Mesial temporal lobe epilepsy with hippocampal sclerosis Orphanet ID- 14274 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Progeria-associated arthropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99706 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Orphanet ID- 14279 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive cerebelloparenchymal disorder type 3 SCAR2 SCAR2 OMIM:213200 ICD10:G11.0 Orphanet ID- 1429 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT SCAR2 Leber 'plus' disease ICD10:H47.2 OMIM:500001 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Mitochondrial inheritance; Orphanet ID- 14291 Familial esophageal achalasia Orphanet ID- 14296 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:K22.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99723 Gigantism Infantile and juvenile forms of acromegaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99725 Infantile and juvenile forms of acromegaly ICD10:E22.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14298 OMIM:102200 EXACT Infantile and juvenile forms of acromegaly Isolated sulfite oxidase deficiency ISOD Sulfocysteinuria Orphanet ID- 14304 ICD10:E72.1 Gene [OrphaNum:119902 ; Name:Sulfite oxidase ; Symbol:SUOX ; xref: GENATLAS:SUOX ; xref: HGNC:11460 ; xref: OMIM:606887 ; xref: UNIPROTKB/SWISSPROT:P51687 ; xref: REACTOME:P51687 ; xref: ENSEMBL:ENSG00000139531] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ISOD OMIM:272300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 Sulfocysteinuria EXACT Sulfocysteinuria EXACT ISOD Sulfite oxidase deficiency due to molybdenum cofactor deficiency Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase MOCOD ICD10:E72.1 Orphanet ID- 14305 OMIM:252150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; MOCOD Gene [OrphaNum:123455 ; Name:Molybdenum cofactor synthesis 2 ; Symbol:MOCS2 ; xref: GENATLAS:MOCS2 ; xref: HGNC:7193 ; xref: OMIM:603708 ; xref: UNIPROTKB/SWISSPROT:O96033 ; xref: REACTOME:O96033 ; xref: ENSEMBL:ENSG00000164172] Gene [OrphaNum:122256 ; Name:Gephyrin ; Symbol:GPHN ; xref: GENATLAS:GPHN ; xref: HGNC:15465 ; xref: OMIM:603930 ; xref: UNIPROTKB/SWISSPROT:Q9NQX3 ; xref: REACTOME:Q9NQX3 ; xref: ENSEMBL:ENSG00000171723] Gene [OrphaNum:285763 ; Name:Molybdenum cofactor synthesis 3 ; Symbol:MOCS3 ; xref: HGNC:15765 ; xref: GENATLAS:MOCS3 ; xref: GENATLAS:O95396 ; xref: OMIM:609277 ; xref: ENSEMBL:ENSG00000124217] Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase Gene [OrphaNum:123452 ; Name:Molybdenum cofactor synthesis 1 ; Symbol:MOCS1 ; xref: GENATLAS:MOCS1 ; xref: HGNC:7190 ; xref: OMIM:603707 ; xref: UNIPROTKB/SWISSPROT:Q9NZB8 ; xref: REACTOME:Q9NZB8 ; xref: ENSEMBL:ENSG00000124615] EXACT Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase EXACT MOCOD Myotonia fluctuans Exercise-induced delayed-onset myotonia Fluctuating myotonia OMIM:608390 Exercise-induced delayed-onset myotonia Fluctuating myotonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 14307 ICD10:G71.1 Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499] EXACT Exercise-induced delayed-onset myotonia EXACT Fluctuating myotonia Myotonia permanens OMIM:608390 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 14308 Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 ICD10:G71.1 Acetazolamide-responsive myotonia ACZ-responsive congenital myotonia ACZ-responsive myotonia Acetazolamide-responsive congenital myotonia Myotonia - painful contractions Painful congenital myotonia Painful myotonia Painful myotonia Acetazolamide-responsive congenital myotonia Myotonia - painful contractions Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499] ACZ-responsive congenital myotonia ACZ-responsive myotonia Painful congenital myotonia Orphanet ID- 14309 ICD10:G71.1 OMIM:608390 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Myotonia - painful contractions EXACT Acetazolamide-responsive congenital myotonia EXACT Painful congenital myotonia EXACT ACZ-responsive congenital myotonia EXACT Painful myotonia EXACT ACZ-responsive myotonia Cerebellar ataxia - ectodermal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174 OMIM:212835 Orphanet ID- 1431 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Familial hypertrophic cardiomyopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739 Orphanet ID- 14312 Total intestinal aganglionosis prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Orphanet ID- 14313 ICD10:Q43.1 OMIM:202550 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99740 King-Denborough syndrome Koussef-Nichols syndrome ICD10:G71.2 Orphanet ID- 14314 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:118437 ; Name:Ryanodine receptor 1 (skeletal) ; Symbol:RYR1 ; xref: UNIPROTKB/SWISSPROT:P21817 ; xref: GENATLAS:RYR1 ; xref: HGNC:10483 ; xref: OMIM:180901 ; xref: ENSEMBL:ENSG00000196218] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 OMIM:145600 Koussef-Nichols syndrome EXACT Koussef-Nichols syndrome Amish lethal microcephaly Gene [OrphaNum:118794 ; Name:Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 ; Symbol:SLC25A19 ; xref: GENATLAS:SLC25A19 ; xref: HGNC:14409 ; xref: OMIM:606521 ; xref: UNIPROTKB/SWISSPROT:Q9HC21 ; xref: ENSEMBL:ENSG00000125454] Orphanet ID- 14315 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:607196 ICD10:Q02 Kostmann syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 Gene [OrphaNum:122370 ; Name:HCLS1 associated protein X-1 ; Symbol:HAX1 ; xref: GENATLAS:HAX1 ; xref: HGNC:16915 ; xref: OMIM:605998 ; xref: UNIPROTKB/SWISSPROT:O00165 ; xref: ENSEMBL:ENSG00000143575] Orphanet ID- 14322 OMIM:610738 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Atypical progressive supranuclear palsy Atypical PSP prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:G23.1 Orphanet ID- 14323 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 Atypical PSP OMIM:260540 EXACT Atypical PSP X-linked cerebellar ataxia type 1 SCAX1 Orphanet ID- 1433 SCAX1 ICD10:G11.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:302500 EXACT SCAX1 Familial hyperreninemic hypoaldosteronism type 1 18-hydroxylase deficiency 18-oxidase deficiency Aldosterone synthase deficiency CMO I CMO II Corticosterone methyl-oxidase deficiency type I FHHA1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99763 18-oxidase deficiency CMO I FHHA1 OMIM:610600 Corticosterone methyl-oxidase deficiency type I Orphanet ID- 14336 Aldosterone synthase deficiency OMIM:203400 CMO II Gene [OrphaNum:120955 ; Name:Cytochrome P450, family 11, subfamily B, polypeptide 2 ; Symbol:CYP11B2 ; xref: GENATLAS:CYP11B2 ; xref: HGNC:2592 ; xref: OMIM:124080 ; xref: UNIPROTKB/SWISSPROT:P19099 ; xref: REACTOME:P19099 ; xref: ENSEMBL:ENSG00000179142] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 18-hydroxylase deficiency ICD10:E27.4 EXACT 18-hydroxylase deficiency EXACT Aldosterone synthase deficiency EXACT Corticosterone methyl-oxidase deficiency type I EXACT CMO II EXACT FHHA1 EXACT 18-oxidase deficiency EXACT CMO I Familial hyperreninemic hypoaldosteronism type 2 Aldosterone synthase deficiency unlinked to CYP11B2 Aldosterone synthase deficiency unlinked to the aldosterone synthase gene FHHA2 Aldosterone synthase deficiency unlinked to the aldosterone synthase gene FHHA2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14337 Aldosterone synthase deficiency unlinked to CYP11B2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99764 Gene [OrphaNum:120955 ; Name:Cytochrome P450, family 11, subfamily B, polypeptide 2 ; Symbol:CYP11B2 ; xref: GENATLAS:CYP11B2 ; xref: HGNC:2592 ; xref: OMIM:124080 ; xref: UNIPROTKB/SWISSPROT:P19099 ; xref: REACTOME:P19099 ; xref: ENSEMBL:ENSG00000179142] OMIM:606984 ICD10:E27.4 EXACT Aldosterone synthase deficiency unlinked to CYP11B2 EXACT FHHA2 EXACT Aldosterone synthase deficiency unlinked to the aldosterone synthase gene Mosaic trisomy 9 Orphanet ID- 14349 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ataxia - tapetoretinal degeneration Orphanet ID- 1435 OMIM:272600 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178 Achalasia-alacrimia syndrome Orphanet ID- 14350 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99777 Familial articular chondrocalcinosis type 1 CCAL1 Orphanet ID- 14354 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; CCAL1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99781 EXACT CCAL1 Familial articular chondrocalcinosis type 2 CCAL2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99782 Orphanet ID- 14355 CCAL2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT CCAL2 Pulp stones Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99783 Orphanet ID- 14356 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Roothless teeth Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99784 OMIM:146400 Orphanet ID- 14357 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pulpal dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99785 Orphanet ID- 14358 Coronal dentin dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99786 Orphanet ID- 14359 Ataxia - tonic upward deviation of eyes Ouvrier-Billson syndrome Orphanet ID- 1436 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179 OMIM:168885 Ouvrier-Billson syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Ouvrier-Billson syndrome Radicular dentin dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99787 Orphanet ID- 14360 Anomalous dysplasia of dentin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99788 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14361 Dentin dysplasia type I DTDP1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789 ICD10:K00.5 DTDP1 Orphanet ID- 14362 EXACT DTDP1 Nonopalescent opalescent dentin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99790 Orphanet ID- 14363 Dentin dysplasia type II DTDP2 ICD10:K00.5 DTDP2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791 Orphanet ID- 14364 EXACT DTDP2 Dentin dysplasia - sclerotic bones ICD10:K00.5 OMIM:125440 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14365 Subcortical band heterotopia Orphanet ID- 14369 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:607432 ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 OMIM:600348 Cerebellar ataxia - hypogonadism Luteinizing hormone-releasing hormone deficiency with ataxia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Luteinizing hormone-releasing hormone deficiency with ataxia OMIM:212840 OMIM:605672 Orphanet ID- 1437 ICD10:G11.8 EXACT Luteinizing hormone-releasing hormone deficiency with ataxia Anodontia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:K00.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99797 Orphanet ID- 14370 OMIM:206780 Oligodontia Orphanet ID- 14371 Gene [OrphaNum:123495 ; Name:Msh homeobox 1 ; Symbol:MSX1 ; xref: GENATLAS:MSX1 ; xref: HGNC:7391 ; xref: OMIM:142983 ; xref: UNIPROTKB/SWISSPROT:P28360 ; xref: ENSEMBL:ENSG00000163132] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:118954 ; Name:Axin 2 (conductin, axil) ; Symbol:AXIN2 ; xref: GENATLAS:AXIN2 ; xref: HGNC:904 ; xref: OMIM:604025 ; xref: UNIPROTKB/SWISSPROT:Q9Y2T1 ; xref: ENSEMBL:ENSG00000168646] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798 OMIM:604625 OMIM:610926 Gene [OrphaNum:189127 ; Name:Latent transforming growth factor beta binding protein 3 ; Symbol:LTBP3 ; xref: GENATLAS:LTBP3 ; xref: HGNC:6716 ; xref: OMIM:602090 ; xref: UNIPROTKB/SWISSPROT:Q9NS15 ; xref: ENSEMBL:ENSG00000168056] ICD10:K00.0 OMIM:106600 Gene [OrphaNum:124105 ; Name:Paired box 9 ; Symbol:PAX9 ; xref: HGNC:8623 ; xref: OMIM:167416 ; xref: UNIPROTKB/SWISSPROT:P55771 ; xref: GENATLAS:PAX9 ; xref: ENSEMBL:ENSG00000198807] OMIM:613097 Hemimegalencephaly Unilateral megalencephaly ICD10:Q04.5 Unilateral megalencephaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 Orphanet ID- 14375 Gene [OrphaNum:299660 ; Name:v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) ; Symbol:AKT3 ; xref: HGNC:393 ; xref: GENATLAS:AKT3 ; xref: UNIPROTKB/SWISSPROT:Q9Y243 ; xref: OMIM:611223] EXACT Unilateral megalencephaly Haddad syndrome Congenital central alveolar hypoventilation - Hirschsprung disease Ondine-Hirschsprung disease Ondine-Hirschsprung syndrome Gene [OrphaNum:117805 ; Name:Paired-like homeobox 2b ; Symbol:PHOX2B ; xref: GENATLAS:PHOX2B ; xref: HGNC:9143 ; xref: OMIM:603851 ; xref: UNIPROTKB/SWISSPROT:Q99453 ; xref: ENSEMBL:ENSG00000109132] OMIM:209880 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 Ondine-Hirschsprung disease prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial; Congenital central alveolar hypoventilation - Hirschsprung disease Ondine-Hirschsprung syndrome Gene [OrphaNum:159769 ; Name:Achaete-scute complex homolog 1 (Drosophila) ; Symbol:ASCL1 ; xref: GENATLAS:ASCL1 ; xref: HGNC:738 ; xref: OMIM:100790 ; xref: UNIPROTKB/SWISSPROT:P50553 ; xref: ENSEMBL:ENSG00000139352] Orphanet ID- 14376 EXACT Congenital central alveolar hypoventilation - Hirschsprung disease EXACT Ondine-Hirschsprung disease EXACT Ondine-Hirschsprung syndrome Familial otodentodysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99805 Orphanet ID- 14378 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Oculootodental syndrome OOD Orphanet ID- 14379 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 OOD EXACT OOD Ataxia - hypogonadism - choroidal dystrophy Boucher-Neuhauser syndrome ICD10:G11.8 OMIM:215470 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 Orphanet ID- 1438 Boucher-Neuhauser syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Boucher-Neuhauser syndrome PEHO-like syndrome Orphanet ID- 14380 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:260565 Familial porencephaly ICD10:Q04.6 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14383 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 Neuronal intestinal pseudoobstruction Orphanet ID- 14384 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 LIG4 syndrome Ligase 4 syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ligase 4 syndrome Gene [OrphaNum:123058 ; Name:Ligase IV, DNA, ATP-dependent ; Symbol:LIG4 ; xref: GENATLAS:LIG4 ; xref: HGNC:6601 ; xref: OMIM:601837 ; xref: UNIPROTKB/SWISSPROT:P49917 ; xref: REACTOME:P49917 ; xref: ENSEMBL:ENSG00000174405] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 OMIM:606593 Orphanet ID- 14385 EXACT Ligase 4 syndrome Nonpolyposis Turcot syndrome Orphanet ID- 14390 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99817 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Turcot syndrome with polyposis OMIM:276300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99818 Orphanet ID- 14391 Gene [OrphaNum:123393 ; Name:Adenomatosis polyposis coli gene ; Symbol:APC ; xref: GENATLAS:APC ; xref: HGNC:583 ; xref: UNIPROTKB/SWISSPROT:P25054 ; xref: OMIM:611731 ; xref: REACTOME:P25054 ; xref: ENSEMBL:ENSG00000134982] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial gestational hyperthyroidism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819 ICD10:E05.8 OMIM:603373 Orphanet ID- 14392 Gene [OrphaNum:120320 ; Name:Thyroid stimulating hormone receptor ; Symbol:TSHR ; xref: GENATLAS:TSHR ; xref: HGNC:12373 ; xref: OMIM:603372 ; xref: UNIPROTKB/SWISSPROT:P16473 ; xref: IUPHAR:255 ; xref: ENSEMBL:ENSG00000165409 ; xref: REACTOME:P16473] Wiskott-Aldrich syndrome Eczema-thrombocytopenia-immunodeficiency syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 Gene [OrphaNum:292448 ; Name:WAS/WASL interacting protein family, member 1 ; Symbol:WIPF1 ; xref: HGNC:12736 ; xref: OMIM:602357 ; xref: UNIPROTKB/SWISSPROT:O43516 ; xref: GENATLAS:WIPF1] OMIM:277970 Eczema-thrombocytopenia-immunodeficiency syndrome ICD10:D82.0 Orphanet ID- 144 OMIM:614493 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:120490 ; Name:Wiskott-Aldrich syndrome (eczema-thrombocytopenia) ; Symbol:WAS ; xref: GENATLAS:WAS ; xref: HGNC:12731 ; xref: OMIM:300392 ; xref: UNIPROTKB/SWISSPROT:P42768 ; xref: ENSEMBL:ENSG00000015285 ; xref: REACTOME:P42768] OMIM:301000 OMIM:600903 EXACT Eczema-thrombocytopenia-immunodeficiency syndrome Spastic ataxia with congenital miosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182 Orphanet ID- 1440 OMIM:108650 Common variable immunodeficiency due to an intrinsic T cell defect CVID due to an intrinsic T cell defect Gene [OrphaNum:235193 ; Name:Membrane-spanning 4-domains, subfamily A, member 1 ; Symbol:MS4A1 ; xref: ENSEMBL:ENSG00000156738 ; xref: HGNC:7315 ; xref: GENATLAS:MS4A1 ; xref: UNIPROTKB/SWISSPROT:P11836 ; xref: OMIM:112210] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99831 OMIM:607594 Gene [OrphaNum:122565 ; Name:Inducible T-cell co-stimulator ; Symbol:ICOS ; xref: GENATLAS:ICOS ; xref: HGNC:5351 ; xref: OMIM:604558 ; xref: UNIPROTKB/SWISSPROT:Q9Y6W8 ; xref: ENSEMBL:ENSG00000163600 ; xref: REACTOME:Q9Y6W8] CVID due to an intrinsic T cell defect OMIM:613495 Orphanet ID- 14404 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT CVID due to an intrinsic T cell defect Resistance to thyrotropin-releasing hormone syndrome Central hypothyroidism due to TRH receptor deficiency THR resistance syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832 Orphanet ID- 14405 Gene [OrphaNum:120259 ; Name:Thyrotropin-releasing hormone ; Symbol:TRH ; xref: GENATLAS:TRH ; xref: HGNC:12298 ; xref: OMIM:275120 ; xref: UNIPROTKB/SWISSPROT:P20396 ; xref: ENSEMBL:ENSG00000170893 ; xref: REACTOME:P20396] THR resistance syndrome ICD10:E03.1 Central hypothyroidism due to TRH receptor deficiency Gene [OrphaNum:120261 ; Name:Thyrotropin-releasing hormone receptor ; Symbol:TRHR ; xref: GENATLAS:TRHR ; xref: HGNC:12299 ; xref: OMIM:188545 ; xref: UNIPROTKB/SWISSPROT:P34981 ; xref: IUPHAR:363 ; xref: REACTOME:P34981 ; xref: ENSEMBL:ENSG00000174417] OMIM:188545 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT THR resistance syndrome EXACT Central hypothyroidism due to TRH receptor deficiency Leukocyte adhesion deficiency type I LAD-I Gene [OrphaNum:122698 ; Name:Integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ; Symbol:ITGB2 ; xref: GENATLAS:ITGB2 ; xref: HGNC:6155 ; xref: OMIM:600065 ; xref: UNIPROTKB/SWISSPROT:P05107 ; xref: ENSEMBL:ENSG00000160255 ; xref: REACTOME:P05107] OMIM:116920 LAD-I prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 14415 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842 EXACT LAD-I Leukocyte adhesion deficiency type II CDG IIc CDG syndrome type IIc CDG2C LAD-II Rambam-Hasharon syndrome LAD-II ICD10:E77.8 Gene [OrphaNum:118838 ; Name:Solute carrier family 35, member C1 ; Symbol:SLC35C1 ; xref: GENATLAS:SLC35C1 ; xref: HGNC:20197 ; xref: OMIM:605881 ; xref: UNIPROTKB/SWISSPROT:Q96A29 ; xref: REACTOME:Q96A29 ; xref: ENSEMBL:ENSG00000181830] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 CDG IIc OMIM:266265 CDG2C Rambam-Hasharon syndrome Orphanet ID- 14416 CDG syndrome type IIc EXACT CDG IIc EXACT Rambam-Hasharon syndrome EXACT LAD-II EXACT CDG syndrome type IIc EXACT CDG2C Leukocyte adhesion deficiency type III LAD-1 variant LAD-III Leukocyte adhesion deficiency-1 variant LAD-1 variant Gene [OrphaNum:178806 ; Name:Fermitin family homolog 3 (Drosophila) ; Symbol:FERMT3 ; xref: GENATLAS:FERMT3 ; xref: HGNC:23151 ; xref: OMIM:607901 ; xref: UNIPROTKB/SWISSPROT:Q86UX7 ; xref: ENSEMBL:ENSG00000149781] Orphanet ID- 14417 Leukocyte adhesion deficiency-1 variant LAD-III Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:612840 EXACT Leukocyte adhesion deficiency-1 variant EXACT LAD-III EXACT LAD-1 variant Genetic recurrent myoglobinuria OMIM:268200 ICD10:R82.1 Gene [OrphaNum:169944 ; Name:Lipin 1 ; Symbol:LPIN1 ; xref: GENATLAS:LPIN1 ; xref: HGNC:13345 ; xref: OMIM:605518 ; xref: UNIPROTKB/SWISSPROT:Q14693 ; xref: ENSEMBL:ENSG00000134324 ; xref: REACTOME:Q14693] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; OMIM:550500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 Orphanet ID- 14418 Gene [OrphaNum:123512 ; Name:Mitochondrially encoded cytochrome c oxidase I ; Symbol:MT-CO1 ; xref: ENSEMBL:ENSG00000198804 ; xref: REACTOME:P00395 ; xref: GENATLAS:MT-CO1 ; xref: HGNC:7419 ; xref: OMIM:516030 ; xref: UNIPROTKB/SWISSPROT:P00395] Gene [OrphaNum:123520 ; Name:Mitochondrially encoded cytochrome c oxidase III ; Symbol:MT-CO3 ; xref: GENATLAS:MT-CO3 ; xref: HGNC:7422 ; xref: OMIM:516050 ; xref: UNIPROTKB/SWISSPROT:P00414 ; xref: ENSEMBL:ENSG00000198938 ; xref: REACTOME:P00414] Autosomal dominant myoglobinuria ICD10:R82.1 OMIM:160010 Orphanet ID- 14419 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 Spinocerebellar ataxia - dysmorphism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185 OMIM:271270 Orphanet ID- 1442 ICD10:G11.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Hemolytic anemia due to erythrocyte enolase deficiency ICD10:D55.2 Orphanet ID- 14420 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- No data available; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99847 Beta-enolase deficiency GSDXIII Glycogenosis type 13 Muscle enolase deficiency Muscular enolase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; GSDXIII Gene [OrphaNum:121551 ; Name:Enolase 3 (beta, muscle) ; Symbol:ENO3 ; xref: GENATLAS:ENO3 ; xref: HGNC:3354 ; xref: OMIM:131370 ; xref: UNIPROTKB/SWISSPROT:P13929 ; xref: ENSEMBL:ENSG00000108515 ; xref: REACTOME:P13929] Orphanet ID- 14422 OMIM:612932 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 Muscle enolase deficiency ICD10:E74.0 Muscular enolase deficiency Glycogenosis type 13 EXACT Muscular enolase deficiency EXACT Glycogenosis type 13 EXACT GSDXIII EXACT Muscle enolase deficiency RAVINE syndrome Reunion island - anorexia - vomiting which is irrepressible - neurological signs ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Reunion island - anorexia - vomiting which is irrepressible - neurological signs Orphanet ID- 14425 EXACT Reunion island - anorexia - vomiting which is irrepressible - neurological signs Ovarioleukodystrophy OMIM:603896 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121330 ; Name:Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa ; Symbol:EIF2B3 ; xref: UNIPROTKB/SWISSPROT:Q9NR50 ; xref: GENATLAS:EIF2B3 ; xref: HGNC:3259 ; xref: OMIM:606273 ; xref: REACTOME:Q9NR50 ; xref: ENSEMBL:ENSG00000070785] Gene [OrphaNum:121326 ; Name:Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa ; Symbol:EIF2B2 ; xref: GENATLAS:EIF2B2 ; xref: HGNC:3258 ; xref: OMIM:606454 ; xref: UNIPROTKB/SWISSPROT:P49770 ; xref: ENSEMBL:ENSG00000119718 ; xref: REACTOME:P49770] Orphanet ID- 14426 ICD10:E75.2 Gene [OrphaNum:121340 ; Name:Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa ; Symbol:EIF2B5 ; xref: GENATLAS:EIF2B5 ; xref: HGNC:3261 ; xref: OMIM:603945 ; xref: UNIPROTKB/SWISSPROT:Q13144 ; xref: REACTOME:Q13144 ; xref: ENSEMBL:ENSG00000145191] Gene [OrphaNum:121320 ; Name:Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa ; Symbol:EIF2B1 ; xref: GENATLAS:EIF2B1 ; xref: HGNC:3257 ; xref: OMIM:606686 ; xref: UNIPROTKB/SWISSPROT:Q14232 ; xref: ENSEMBL:ENSG00000111361 ; xref: REACTOME:Q14232] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853 Gene [OrphaNum:121334 ; Name:Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa ; Symbol:EIF2B4 ; xref: GENATLAS:EIF2B4 ; xref: HGNC:3260 ; xref: OMIM:606687 ; xref: UNIPROTKB/SWISSPROT:Q9UI10 ; xref: ENSEMBL:ENSG00000115211 ; xref: REACTOME:Q9UI10] Cree leukoencephalopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854 Orphanet ID- 14427 OMIM:603896 ICD10:E75.2 Gene [OrphaNum:121330 ; Name:Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa ; Symbol:EIF2B3 ; xref: UNIPROTKB/SWISSPROT:Q9NR50 ; xref: GENATLAS:EIF2B3 ; xref: HGNC:3259 ; xref: OMIM:606273 ; xref: REACTOME:Q9NR50 ; xref: ENSEMBL:ENSG00000070785] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121320 ; Name:Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa ; Symbol:EIF2B1 ; xref: GENATLAS:EIF2B1 ; xref: HGNC:3257 ; xref: OMIM:606686 ; xref: UNIPROTKB/SWISSPROT:Q14232 ; xref: ENSEMBL:ENSG00000111361 ; xref: REACTOME:Q14232] Gene [OrphaNum:121326 ; Name:Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa ; Symbol:EIF2B2 ; xref: GENATLAS:EIF2B2 ; xref: HGNC:3258 ; xref: OMIM:606454 ; xref: UNIPROTKB/SWISSPROT:P49770 ; xref: ENSEMBL:ENSG00000119718 ; xref: REACTOME:P49770] Gene [OrphaNum:121340 ; Name:Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa ; Symbol:EIF2B5 ; xref: GENATLAS:EIF2B5 ; xref: HGNC:3261 ; xref: OMIM:603945 ; xref: UNIPROTKB/SWISSPROT:Q13144 ; xref: REACTOME:Q13144 ; xref: ENSEMBL:ENSG00000145191] Gene [OrphaNum:121334 ; Name:Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa ; Symbol:EIF2B4 ; xref: GENATLAS:EIF2B4 ; xref: HGNC:3260 ; xref: OMIM:606687 ; xref: UNIPROTKB/SWISSPROT:Q9UI10 ; xref: ENSEMBL:ENSG00000115211 ; xref: REACTOME:Q9UI10] Primary syringomyelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856 Orphanet ID- 14429 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G95.0 Infantile onset spinocerebellar ataxia IOSCA Ohaha syndrome Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 OMIM:271245 IOSCA prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G11.1 Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis Ohaha syndrome Gene [OrphaNum:159897 ; Name:Chromosome 10 open reading frame 2 ; Symbol:C10ORF2 ; xref: ENSEMBL:ENSG00000107815 ; xref: GENATLAS:C10orf2 ; xref: HGNC:1160 ; xref: OMIM:606075 ; xref: UNIPROTKB/SWISSPROT:Q96RR1] Orphanet ID- 1443 EXACT Ohaha syndrome EXACT IOSCA EXACT Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis Secondary syringomyelia ICD10:G95.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99857 Orphanet ID- 14430 Idiopathic syringomyelia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858 ICD10:G95.0 Orphanet ID- 14431 Post-traumatic syringomyelia Orphanet ID- 14432 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99859 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G95.0 Lethal ataxia with deafness and optic atrophy Arts syndrome Orphanet ID- 1444 Gene [OrphaNum:118076 ; Name:Phosphoribosyl pyrophosphate synthetase 1 ; Symbol:PRPS1 ; xref: GENATLAS:PRPS1 ; xref: HGNC:9462 ; xref: OMIM:311850 ; xref: UNIPROTKB/SWISSPROT:P60891 ; xref: ENSEMBL:ENSG00000147224 ; xref: REACTOME:P60891] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; OMIM:301835 Arts syndrome ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 EXACT Arts syndrome Letterer-Siwe disease Acute and disseminated Langerhans cell histiocytosis Acute and disseminated Langerhans cell histiocytosis Orphanet ID- 14443 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:246400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99870 ICD10:C96.0 EXACT Acute and disseminated Langerhans cell histiocytosis Eosinophilic granuloma Chronic and localized Langerhans cell histiocytosis ICD10:C96.6 Orphanet ID- 14444 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Chronic and localized Langerhans cell histiocytosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99871 EXACT Chronic and localized Langerhans cell histiocytosis Hashimoto-Pritzker syndrome Congenital Langerhans cell histiocytosis ICD10:D76.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99872 Orphanet ID- 14445 Congenital Langerhans cell histiocytosis EXACT Congenital Langerhans cell histiocytosis Hand-Schüller-Christian disease Chronic and multifocal Langerhans cell histiocytosis Multifocal eosinophilic granuloma Chronic and multifocal Langerhans cell histiocytosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99873 ICD10:C96.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Multifocal eosinophilic granuloma Orphanet ID- 14446 EXACT Chronic and multifocal Langerhans cell histiocytosis EXACT Multifocal eosinophilic granuloma Adult pulmonary Langerhans cell histiocytosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99874 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14447 ICD10:D76.0 Ehlers-Danlos syndrome type 7A EDS VIIA Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99875 ICD10:Q79.6 EDS VIIA prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14448 OMIM:130060 EXACT EDS VIIA Ehlers-Danlos syndrome type 7B EDS VIIB Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99876 EDS VIIB prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:130060 Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123] ICD10:Q79.6 Orphanet ID- 14449 EXACT EDS VIIB Ataxia-deafness-retardation syndrome Reardon-Baraitser syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 OMIM:208850 Reardon-Baraitser syndrome Orphanet ID- 1445 EXACT Reardon-Baraitser syndrome Familial parathyroid adenoma Orphanet ID- 14450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99877 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123196 ; Name:Multiple endocrine neoplasia I ; Symbol:MEN1 ; xref: GENATLAS:MEN1 ; xref: HGNC:7010 ; xref: OMIM:613733 ; xref: UNIPROTKB/SWISSPROT:O00255 ; xref: ENSEMBL:ENSG00000133895] OMIM:145000 Gene [OrphaNum:119271 ; Name:Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ; Symbol:CDC73 ; xref: GENATLAS:CDC73 ; xref: HGNC:16783 ; xref: OMIM:607393 ; xref: UNIPROTKB/SWISSPROT:Q6P1J9 ; xref: ENSEMBL:ENSG00000134371] ICD10:E21.0 Primary parathyroids hyperplasia Familial parathyroids hyperplasia Hereditary parathyroids hyperplasia Hereditary parathyroids hyperplasia Orphanet ID- 14451 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99878 OMIM:600166 ICD10:E21.0 Familial parathyroids hyperplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Familial parathyroids hyperplasia EXACT Hereditary parathyroids hyperplasia Familial isolated hyperparathyroidism FIHPT Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879 Gene [OrphaNum:159968 ; Name:Hyperparathyroidism 1 gene ; Symbol:HRPT1 ; xref: GENATLAS:HRPT1 ; xref: HGNC:5190 ; xref: OMIM:145000] Orphanet ID- 14452 OMIM:145000 Gene [OrphaNum:119271 ; Name:Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ; Symbol:CDC73 ; xref: GENATLAS:CDC73 ; xref: HGNC:16783 ; xref: OMIM:607393 ; xref: UNIPROTKB/SWISSPROT:Q6P1J9 ; xref: ENSEMBL:ENSG00000134371] FIHPT prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123196 ; Name:Multiple endocrine neoplasia I ; Symbol:MEN1 ; xref: GENATLAS:MEN1 ; xref: HGNC:7010 ; xref: OMIM:613733 ; xref: UNIPROTKB/SWISSPROT:O00255 ; xref: ENSEMBL:ENSG00000133895] OMIM:610071 ICD10:E21.0 EXACT FIHPT Hyperparathyroidism - jaw tumor syndrome HPT-JT ICD10:E21.0 HPT-JT Orphanet ID- 14453 OMIM:145001 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119271 ; Name:Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ; Symbol:CDC73 ; xref: GENATLAS:CDC73 ; xref: HGNC:16783 ; xref: OMIM:607393 ; xref: UNIPROTKB/SWISSPROT:Q6P1J9 ; xref: ENSEMBL:ENSG00000134371] EXACT HPT-JT Permanent neonatal diabetes mellitus PNDM prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:117665 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ; Symbol:ABCC8 ; xref: GENATLAS:ABCC8 ; xref: HGNC:59 ; xref: OMIM:600509 ; xref: UNIPROTKB/SWISSPROT:Q09428 ; xref: ENSEMBL:ENSG00000006071 ; xref: REACTOME:Q09428] Gene [OrphaNum:124173 ; Name:Pancreatic and duodenal homeobox 1 ; Symbol:PDX1 ; xref: OMIM:600733 ; xref: UNIPROTKB/SWISSPROT:P52945 ; xref: GENATLAS:PDX1 ; xref: HGNC:6107 ; xref: REACTOME:P52945 ; xref: ENSEMBL:ENSG00000139515] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 ICD10:P70.2 Gene [OrphaNum:122053 ; Name:Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) ; Symbol:GCK ; xref: GENATLAS:GCK ; xref: HGNC:4195 ; xref: OMIM:138079 ; xref: UNIPROTKB/SWISSPROT:P35557 ; xref: ENSEMBL:ENSG00000106633 ; xref: REACTOME:P35557] Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654] PNDM Gene [OrphaNum:168345 ; Name:Insulin ; Symbol:INS ; xref: GENATLAS:INS ; xref: HGNC:6081 ; xref: OMIM:176730 ; xref: UNIPROTKB/SWISSPROT:P01308 ; xref: ENSEMBL:ENSG00000254647 ; xref: REACTOME:P01308] OMIM:606176 Orphanet ID- 14458 EXACT PNDM Transient neonatal diabetes mellitus TNDM ICD10:P70.2 OMIM:610374 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886 OMIM:601410 Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654] Gene [OrphaNum:206724 ; Name:Zinc finger protein 57 homolog (mouse) ; Symbol:ZFP57 ; xref: HGNC:18791 ; xref: OMIM:612192 ; xref: UNIPROTKB/SWISSPROT:Q9NU63 ; xref: ENSEMBL:ENSG00000204644 ; xref: GENATLAS:ZFP57] OMIM:610582 Gene [OrphaNum:117665 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ; Symbol:ABCC8 ; xref: GENATLAS:ABCC8 ; xref: HGNC:59 ; xref: OMIM:600509 ; xref: UNIPROTKB/SWISSPROT:Q09428 ; xref: ENSEMBL:ENSG00000006071 ; xref: REACTOME:Q09428] TNDM prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14459 EXACT TNDM Atelosteogenesis I Giant cell chondrodysplasia Spondylo-humero-femoral dysplasia Gene [OrphaNum:121860 ; Name:Filamin B, beta (actin binding protein 278) ; Symbol:FLNB ; xref: GENATLAS:FLNB ; xref: HGNC:3755 ; xref: OMIM:603381 ; xref: UNIPROTKB/SWISSPROT:O75369 ; xref: ENSEMBL:ENSG00000136068 ; xref: REACTOME:O75369] Giant cell chondrodysplasia OMIM:108720 ICD10:Q78.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1447 Spondylo-humero-femoral dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 EXACT Giant cell chondrodysplasia EXACT Spondylo-humero-femoral dysplasia Interferon gamma receptor 1 deficiency Orphanet ID- 14471 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99898 Genetic susceptibility to infections caused by BCG and atypical mycobacteria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99899 Orphanet ID- 14472 Long chain Acyl-CoA dehydrogenase deficiency LCAD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99900 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14473 ICD10:E71.3 Gene [OrphaNum:159889 ; Name:Acyl-Coenzyme A dehydrogenase, long chain ; Symbol:ACADL ; xref: GENATLAS:ACADL ; xref: HGNC:88 ; xref: OMIM:609576 ; xref: UNIPROTKB/SWISSPROT:P28330 ; xref: ENSEMBL:ENSG00000115361 ; xref: REACTOME:P28330] LCAD OMIM:201475 EXACT LCAD Acyl-CoA dehydrogenase 9 deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:611126 ICD10:E71.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 Gene [OrphaNum:123334 ; Name:Acyl-Coenzyme A dehydrogenase family, member 9 ; Symbol:ACAD9 ; xref: GENATLAS:ACAD9 ; xref: HGNC:21497 ; xref: OMIM:611103 ; xref: UNIPROTKB/SWISSPROT:Q9H845 ; xref: ENSEMBL:ENSG00000177646] Orphanet ID- 14474 Atkin-Flaitz syndrome X-linked intellectual deficit, Atkin type X-linked intellectual deficit, Atkin type Orphanet ID- 1449 OMIM:300431 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193 EXACT X-linked intellectual deficit, Atkin type Invasive mole Orphanet ID- 14498 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99925 Gestational choriocarcinoma prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 14499 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99926 Williams syndrome Deletion 7q11.23 Monosomy 7q11.23 Williams-Beuren syndrome Gene [OrphaNum:121506 ; Name:Eukaryotic translation initiation factor 4H ; Symbol:EIF4H ; xref: ENSEMBL:ENSG00000106682 ; xref: GENATLAS:EIF4H ; xref: HGNC:12741 ; xref: OMIM:603431 ; xref: UNIPROTKB/SWISSPROT:Q15056 ; xref: REACTOME:Q15056] prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:122319 ; Name:GTF2I repeat domain containing 1 ; Symbol:GTF2IRD1 ; xref: GENATLAS:GTF2IRD1 ; xref: HGNC:4661 ; xref: OMIM:604318 ; xref: UNIPROTKB/SWISSPROT:Q9UHL9 ; xref: ENSEMBL:ENSG00000006704] Gene [OrphaNum:122310 ; Name:General transcription factor II, i ; Symbol:GTF2I ; xref: GENATLAS:GTF2I ; xref: HGNC:4659 ; xref: OMIM:601679 ; xref: UNIPROTKB/SWISSPROT:P78347 ; xref: ENSEMBL:ENSG00000077809] Gene [OrphaNum:122995 ; Name:Linker for activation of T cells family, member 2 ; Symbol:LAT2 ; xref: GENATLAS:LAT2 ; xref: HGNC:12749 ; xref: OMIM:605719 ; xref: UNIPROTKB/SWISSPROT:Q9GZY6 ; xref: ENSEMBL:ENSG00000086730] Gene [OrphaNum:120497 ; Name:Williams Beuren syndrome chromosome region 22 ; Symbol:WBSCR22 ; xref: GENATLAS:WBSCR22 ; xref: HGNC:16405 ; xref: UNIPROTKB/SWISSPROT:O43709 ; xref: ENSEMBL:ENSG00000071462] Williams-Beuren syndrome Gene [OrphaNum:159094 ; Name:Williams-Beuren syndrome chromosome region 2 ; Symbol:WBSCR2 ; xref: GENATLAS:WBSCR2 ; xref: HGNC:12746] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 Gene [OrphaNum:119944 ; Name:Transducin (beta)-like 2 ; Symbol:TBL2 ; xref: GENATLAS:TBL2 ; xref: HGNC:11586 ; xref: OMIM:605842 ; xref: UNIPROTKB/SWISSPROT:Q9Y4P3 ; xref: ENSEMBL:ENSG00000106638] ICD10:Q87.8 Gene [OrphaNum:118283 ; Name:Replication factor C (activator 1) 2, 40kDa ; Symbol:RFC2 ; xref: GENATLAS:RFC2 ; xref: HGNC:9970 ; xref: OMIM:600404 ; xref: UNIPROTKB/SWISSPROT:P35250 ; xref: REACTOME:P35250 ; xref: ENSEMBL:ENSG00000049541] Gene [OrphaNum:120495 ; Name:Williams-Beuren syndrome chromosome region 16 ; Symbol:WBSCR16 ; xref: ENSEMBL:ENSG00000174374 ; xref: GENATLAS:WBSCR16 ; xref: HGNC:14948 ; xref: UNIPROTKB/SWISSPROT:Q96I51] Gene [OrphaNum:121833 ; Name:FK506 binding protein 6, 36kDa ; Symbol:FKBP6 ; xref: GENATLAS:FKBP6 ; xref: HGNC:3722 ; xref: OMIM:604839 ; xref: UNIPROTKB/SWISSPROT:O75344 ; xref: REACTOME:O75344 ; xref: ENSEMBL:ENSG00000077800] Deletion 7q11.23 Gene [OrphaNum:120507 ; Name:Williams Beuren syndrome chromosome region 27 ; Symbol:WBSCR27 ; xref: GENATLAS:WBSCR27 ; xref: HGNC:19068 ; xref: UNIPROTKB/SWISSPROT:Q8N6F8 ; xref: ENSEMBL:ENSG00000165171] Gene [OrphaNum:120630 ; Name:CAP-GLY domain containing linker protein 2 ; Symbol:CLIP2 ; xref: ENSEMBL:ENSG00000106665 ; xref: GENATLAS:CLIP2 ; xref: HGNC:2586 ; xref: OMIM:603432 ; xref: UNIPROTKB/SWISSPROT:Q9UDT6] Gene [OrphaNum:159194 ; Name:DnaJ (Hsp40) homolog, subfamily C, member 30 ; Symbol:DNAJC30 ; xref: GENATLAS:DNAJC30 ; xref: HGNC:16410 ; xref: UNIPROTKB/SWISSPROT:Q96LL9 ; xref: ENSEMBL:ENSG00000176410] OMIM:194050 Gene [OrphaNum:118970 ; Name:Bromodomain adjacent to zinc finger domain, 1B ; Symbol:BAZ1B ; xref: ENSEMBL:ENSG00000009954 ; xref: GENATLAS:BAZ1B ; xref: HGNC:961 ; xref: OMIM:605681 ; xref: UNIPROTKB/SWISSPROT:Q9UIG0] Gene [OrphaNum:123060 ; Name:LIM domain kinase 1 ; Symbol:LIMK1 ; xref: HGNC:6613 ; xref: OMIM:601329 ; xref: UNIPROTKB/SWISSPROT:P53667 ; xref: REACTOME:P53667 ; xref: GENATLAS:LIMK1 ; xref: ENSEMBL:ENSG00000106683] Gene [OrphaNum:123286 ; Name:MLX interacting protein-like ; Symbol:MLXIPL ; xref: REACTOME:Q9NP71 ; xref: GENATLAS:MLXIPL ; xref: HGNC:12744 ; xref: OMIM:605678 ; xref: UNIPROTKB/SWISSPROT:Q9NP71 ; xref: ENSEMBL:ENSG00000009950] Monosomy 7q11.23 Orphanet ID- 145 Gene [OrphaNum:119010 ; Name:B-cell CLL/lymphoma 7B ; Symbol:BCL7B ; xref: ENSEMBL:ENSG00000106635 ; xref: GENATLAS:BCL7B ; xref: HGNC:1005 ; xref: OMIM:605846 ; xref: UNIPROTKB/SWISSPROT:Q9BQE9] Gene [OrphaNum:121517 ; Name:Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) ; Symbol:ELN ; xref: GENATLAS:ELN ; xref: HGNC:3327 ; xref: OMIM:130160 ; xref: UNIPROTKB/SWISSPROT:P15502 ; xref: ENSEMBL:ENSG00000049540] EXACT Monosomy 7q11.23 EXACT Deletion 7q11.23 EXACT Williams-Beuren syndrome Colonic atresia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:303650 Orphanet ID- 1450 ICD10:Q42.9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 Placental site trophoblastic tumor PSST Orphanet ID- 14501 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99928 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; PSST EXACT PSST Autosomal dominant Charcot-Marie-Tooth disease type 2B CMT2B OMIM:600882 CMT2B Gene [OrphaNum:118205 ; Name:RAB7A, member RAS oncogene family ; Symbol:RAB7A ; xref: GENATLAS:RAB7A ; xref: HGNC:9788 ; xref: OMIM:602298 ; xref: UNIPROTKB/SWISSPROT:P51149 ; xref: ENSEMBL:ENSG00000075785] ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936 Orphanet ID- 14509 prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT CMT2B Choanal atresia - deafness - cardiac defects - dysmorphism Burn-McKeown syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 Burn-McKeown syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; OMIM:608572 Orphanet ID- 1451 EXACT Burn-McKeown syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2C CMT2C Orphanet ID- 14510 OMIM:606071 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937 CMT2C prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G60.0 Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] EXACT CMT2C Autosomal dominant Charcot-Marie-Tooth disease type 2D CMT2D Gene [OrphaNum:122022 ; Name:Glycyl-tRNA synthetase ; Symbol:GARS ; xref: GENATLAS:GARS ; xref: HGNC:4162 ; xref: OMIM:600287 ; xref: UNIPROTKB/SWISSPROT:P41250 ; xref: REACTOME:P41250 ; xref: ENSEMBL:ENSG00000106105] prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14511 OMIM:601472 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938 ICD10:G60.0 CMT2D EXACT CMT2D Autosomal dominant Charcot-Marie-Tooth disease type 2E CMT2E CMT2E OMIM:607684 Gene [OrphaNum:123754 ; Name:Neurofilament, light polypeptide 68kDa ; Symbol:NEFL ; xref: GENATLAS:NEFL ; xref: HGNC:7739 ; xref: OMIM:162280 ; xref: UNIPROTKB/SWISSPROT:P07196 ; xref: ENSEMBL:ENSG00000104725 ; xref: REACTOME:P07196] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14512 ICD10:G60.0 EXACT CMT2E Autosomal dominant Charcot-Marie-Tooth disease type 2F CMT2F Orphanet ID- 14513 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940 ICD10:G60.0 CMT2F Gene [OrphaNum:122526 ; Name:Heat shock 27kDa protein 1 ; Symbol:HSPB1 ; xref: ENSEMBL:ENSG00000106211 ; xref: REACTOME:P04792 ; xref: GENATLAS:HSPB1 ; xref: HGNC:5246 ; xref: OMIM:602195 ; xref: UNIPROTKB/SWISSPROT:P04792] OMIM:606595 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT CMT2F Autosomal dominant Charcot-Marie-Tooth disease type 2G CMT2G OMIM:608591 CMT2G Orphanet ID- 14514 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99941 ICD10:G60.0 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT CMT2G Autosomal dominant Charcot-Marie-Tooth disease type 2I CMT2I Gene [OrphaNum:123473 ; Name:Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) ; Symbol:MPZ ; xref: GENATLAS:MPZ ; xref: HGNC:7225 ; xref: OMIM:159440 ; xref: UNIPROTKB/SWISSPROT:P25189 ; xref: ENSEMBL:ENSG00000158887] Orphanet ID- 14515 CMT2I ICD10:G60.0 OMIM:607677 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942 EXACT CMT2I Autosomal dominant Charcot-Marie-Tooth disease type 2J CMT2J Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943 Gene [OrphaNum:123473 ; Name:Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) ; Symbol:MPZ ; xref: GENATLAS:MPZ ; xref: HGNC:7225 ; xref: OMIM:159440 ; xref: UNIPROTKB/SWISSPROT:P25189 ; xref: ENSEMBL:ENSG00000158887] CMT2J Orphanet ID- 14516 ICD10:G60.0 OMIM:607736 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT CMT2J Autosomal dominant Charcot-Marie-Tooth disease type 2K CMT2K ICD10:G60.0 Orphanet ID- 14517 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; CMT2K OMIM:607831 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944 Gene [OrphaNum:122064 ; Name:Ganglioside-induced differentiation-associated protein 1 ; Symbol:GDAP1 ; xref: GENATLAS:GDAP1 ; xref: HGNC:15968 ; xref: OMIM:606598 ; xref: UNIPROTKB/SWISSPROT:Q8TB36 ; xref: ENSEMBL:ENSG00000104381] EXACT CMT2K Autosomal dominant Charcot-Marie-Tooth disease type 2L CMT2L Orphanet ID- 14518 ICD10:G60.0 Gene [OrphaNum:122532 ; Name:Heat shock 22kDa protein 8 ; Symbol:HSPB8 ; xref: GENATLAS:HSPB8 ; xref: HGNC:30171 ; xref: OMIM:608014 ; xref: UNIPROTKB/SWISSPROT:Q9UJY1 ; xref: ENSEMBL:ENSG00000152137] CMT2L Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:608673 EXACT CMT2L Autosomal dominant Charcot-Marie-Tooth disease type 2A1 CMT2A1 Gene [OrphaNum:122840 ; Name:Kinesin family member 1B ; Symbol:KIF1B ; xref: GENATLAS:KIF1B ; xref: HGNC:16636 ; xref: OMIM:605995 ; xref: UNIPROTKB/SWISSPROT:O60333 ; xref: ENSEMBL:ENSG00000054523] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946 CMT2A1 Orphanet ID- 14519 OMIM:118210 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G60.0 EXACT CMT2A1 Duodenal atresia Orphanet ID- 1452 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203 OMIM:223400 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; ICD10:Q41.0 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 CMT2A2 Gene [OrphaNum:123207 ; Name:Mitofusin 2 ; Symbol:MFN2 ; xref: GENATLAS:MFN2 ; xref: HGNC:16877 ; xref: OMIM:608507 ; xref: UNIPROTKB/SWISSPROT:O95140 ; xref: REACTOME:O95140 ; xref: ENSEMBL:ENSG00000116688] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947 CMT2A2 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14520 ICD10:G60.0 OMIM:609260 EXACT CMT2A2 Charcot-Marie-Tooth disease type 4A CMT4A Orphanet ID- 14521 Gene [OrphaNum:122064 ; Name:Ganglioside-induced differentiation-associated protein 1 ; Symbol:GDAP1 ; xref: GENATLAS:GDAP1 ; xref: HGNC:15968 ; xref: OMIM:606598 ; xref: UNIPROTKB/SWISSPROT:Q8TB36 ; xref: ENSEMBL:ENSG00000104381] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; CMT4A ICD10:G60.0 OMIM:214400 EXACT CMT4A Charcot-Marie-Tooth disease type 4C CMT4C OMIM:601596 CMT4C prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 14522 Gene [OrphaNum:118693 ; Name:SH3 domain and tetratricopeptide repeats 2 ; Symbol:SH3TC2 ; xref: GENATLAS:SH3TC2 ; xref: HGNC:29427 ; xref: OMIM:608206 ; xref: UNIPROTKB/SWISSPROT:Q8TF17 ; xref: ENSEMBL:ENSG00000169247] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949 ICD10:G60.0 EXACT CMT4C Charcot-Marie-Tooth disease type 4D CMT4D Hereditary motor and sensory neuropathy, Lom type OMIM:601455 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950 Orphanet ID- 14523 Gene [OrphaNum:123716 ; Name:N-myc downstream regulated gene 1 ; Symbol:NDRG1 ; xref: GENATLAS:NDRG1 ; xref: HGNC:7679 ; xref: OMIM:605262 ; xref: UNIPROTKB/SWISSPROT:Q92597 ; xref: ENSEMBL:ENSG00000104419] ICD10:G60.0 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Hereditary motor and sensory neuropathy, Lom type CMT4D EXACT Hereditary motor and sensory neuropathy, Lom type EXACT CMT4D Charcot-Marie-Tooth disease type 4E Autosomal recessive congenital hypomyelinating neuropathy CMT4E Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951 CMT4E prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:605253 Autosomal recessive congenital hypomyelinating neuropathy Orphanet ID- 14524 Gene [OrphaNum:121314 ; Name:Early growth response 2 (Krox-20 homolog, Drosophila) ; Symbol:EGR2 ; xref: GENATLAS:EGR2 ; xref: HGNC:3239 ; xref: OMIM:129010 ; xref: UNIPROTKB/SWISSPROT:P11161 ; xref: ENSEMBL:ENSG00000122877 ; xref: REACTOME:P11161] ICD10:G60.0 EXACT Autosomal recessive congenital hypomyelinating neuropathy EXACT CMT4E Charcot-Marie-Tooth disease type 4F CMT4F CMT4F OMIM:145900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952 ICD10:G60.0 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:118092 ; Name:Periaxin ; Symbol:PRX ; xref: GENATLAS:PRX ; xref: HGNC:13797 ; xref: OMIM:605725 ; xref: UNIPROTKB/SWISSPROT:Q9BXM0 ; xref: ENSEMBL:ENSG00000105227] Orphanet ID- 14525 EXACT CMT4F Charcot-Marie-Tooth disease type 4G CMT4G HMSNR Hereditary motor and sensory neuropathy, Russe Type Gene [OrphaNum:122420 ; Name:Hexokinase 1 ; Symbol:HK1 ; xref: GENATLAS:HK1 ; xref: HGNC:4922 ; xref: OMIM:142600 ; xref: UNIPROTKB/SWISSPROT:P19367 ; xref: ENSEMBL:ENSG00000156515 ; xref: REACTOME:P19367] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G60.0 CMT4G Hereditary motor and sensory neuropathy, Russe Type Orphanet ID- 14526 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953 HMSNR OMIM:605285 EXACT HMSNR EXACT CMT4G EXACT Hereditary motor and sensory neuropathy, Russe Type Charcot-Marie-Tooth disease type 4H CMT4H ICD10:G60.0 Orphanet ID- 14527 CMT4H Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954 Gene [OrphaNum:138570 ; Name:FYVE, RhoGEF and PH domain containing 4 ; Symbol:FGD4 ; xref: GENATLAS:FGD4 ; xref: HGNC:19125 ; xref: OMIM:611104 ; xref: UNIPROTKB/SWISSPROT:Q96M96 ; xref: ENSEMBL:ENSG00000139132 ; xref: REACTOME:Q96M96] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609311 EXACT CMT4H Charcot-Marie-Tooth disease type 4B1 CMT4B1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123533 ; Name:Myotubularin related protein 2 ; Symbol:MTMR2 ; xref: GENATLAS:MTMR2 ; xref: HGNC:7450 ; xref: OMIM:603557 ; xref: UNIPROTKB/SWISSPROT:Q13614 ; xref: ENSEMBL:ENSG00000087053] ICD10:G60.0 OMIM:601382 CMT4B1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955 Orphanet ID- 14528 EXACT CMT4B1 Charcot-Marie-Tooth disease type 4B2 CMT4B2 Gene [OrphaNum:118482 ; Name:SET binding factor 2 ; Symbol:SBF2 ; xref: GENATLAS:SBF2 ; xref: HGNC:2135 ; xref: OMIM:607697 ; xref: UNIPROTKB/SWISSPROT:Q86WG5 ; xref: ENSEMBL:ENSG00000133812] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; CMT4B2 ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956 Orphanet ID- 14529 OMIM:604563 EXACT CMT4B2 Benign recurrent intrahepatic cholestasis type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 OMIM:243300 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:118885 ; Name:ATPase, Class I, type 8B, member 1 ; Symbol:ATP8B1 ; xref: GENATLAS:ATP8B1 ; xref: HGNC:3706 ; xref: OMIM:602397 ; xref: UNIPROTKB/SWISSPROT:O43520 ; xref: ENSEMBL:ENSG00000081923 ; xref: REACTOME:O43520] Orphanet ID- 14533 Benign recurrent intrahepatic cholestasis type 2 OMIM:605479 Gene [OrphaNum:117631 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 11 ; Symbol:ABCB11 ; xref: GENATLAS:ABCB11 ; xref: HGNC:42 ; xref: OMIM:603201 ; xref: UNIPROTKB/SWISSPROT:O95342 ; xref: REACTOME:O95342 ; xref: ENSEMBL:ENSG00000073734] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 Orphanet ID- 14534 Familial restrictive cardiomyopathy type 1 Gene [OrphaNum:120184 ; Name:Troponin I type 3 (cardiac) ; Symbol:TNNI3 ; xref: GENATLAS:TNNI3 ; xref: HGNC:11947 ; xref: OMIM:191044 ; xref: UNIPROTKB/SWISSPROT:P19429 ; xref: REACTOME:P19429 ; xref: ENSEMBL:ENSG00000129991] OMIM:115210 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99985 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14558 Familial restrictive cardiomyopathy type 2 Orphanet ID- 14559 OMIM:609578 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99986 Anophthalmia - esophageal-genital syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99987 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14560 Intermediate DEND syndrome Orphanet ID- 14562 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary cystatin C amyloid angiopathy Orphanet ID- 14578 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100005 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary cerebral hemorrhage with amyloidosis, Dutch type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121393 ; Name:Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease) ; Symbol:APP ; xref: GENATLAS:APP ; xref: HGNC:620 ; xref: OMIM:104760 ; xref: UNIPROTKB/SWISSPROT:P05067 ; xref: ENSEMBL:ENSG00000142192 ; xref: REACTOME:P05067] Orphanet ID- 14579 OMIM:605714 Hereditary amyloid precursor protein angiopathy Hereditary APP amyloid angiopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100007 Hereditary APP amyloid angiopathy Orphanet ID- 14580 EXACT Hereditary APP amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis, Icelandic type OMIM:105150 Orphanet ID- 14581 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120865 ; Name:Cystatin C (amyloid angiopathy and cerebral hemorrhage) ; Symbol:CST3 ; xref: GENATLAS:CST3 ; xref: HGNC:2475 ; xref: OMIM:604312 ; xref: UNIPROTKB/SWISSPROT:P01034 ; xref: ENSEMBL:ENSG00000101439 ; xref: REACTOME:P01034] Benign adult familial myoclonic epilepsy type 1 OMIM:601068 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100009 Orphanet ID- 14582 Benign adult familial myoclonic epilepsy type 2 OMIM:607876 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100010 Orphanet ID- 14583 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lissencephaly with cerebellar hypoplasia type A ICD10:Q04.3 Orphanet ID- 14584 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lissencephaly with cerebellar hypoplasia type B Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q04.3 Orphanet ID- 14585 Lissencephaly with cerebellar hypoplasia type C prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 ICD10:Q04.3 Orphanet ID- 14586 Lissencephaly with cerebellar hypoplasia type D prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 ICD10:Q04.3 Orphanet ID- 14587 Lissencephaly with cerebellar hypoplasia type E ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 Orphanet ID- 14588 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lissencephaly with cerebellar hypoplasia type F Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 ICD10:Q04.3 Orphanet ID- 14589 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypoplastic amelogenesis imperfecta Amelogenesis imperfecta type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031 ICD10:K00.5 OMIM:301201 OMIM:104500 OMIM:104530 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; OMIM:204650 Amelogenesis imperfecta type 1 Orphanet ID- 14604 Gene [OrphaNum:121533 ; Name:Enamelin ; Symbol:ENAM ; xref: GENATLAS:ENAM ; xref: HGNC:3344 ; xref: OMIM:606585 ; xref: UNIPROTKB/SWISSPROT:Q9NRM1 ; xref: ENSEMBL:ENSG00000132464] EXACT Amelogenesis imperfecta type 1 Hypocalcified amelogenesis imperfecta Amelogenesis imperfecta type 3 Orphanet ID- 14605 ICD10:K00.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 Gene [OrphaNum:139802 ; Name:Family with sequence similarity 83, member H ; Symbol:FAM83H ; xref: GENATLAS:FAM83H ; xref: HGNC:24797 ; xref: OMIM:611927 ; xref: UNIPROTKB/SWISSPROT:Q6ZRV2 ; xref: ENSEMBL:ENSG00000180921] Amelogenesis imperfecta type 3 OMIM:130900 EXACT Amelogenesis imperfecta type 3 Hypomaturation amelogenesis imperfecta Amelogenesis imperfecta type 2 ICD10:K00.5 Gene [OrphaNum:119653 ; Name:Amelogenin (amelogenesis imperfecta 1, X-linked) ; Symbol:AMELX ; xref: GENATLAS:AMELX ; xref: HGNC:461 ; xref: OMIM:300391 ; xref: UNIPROTKB/SWISSPROT:Q99217 ; xref: ENSEMBL:ENSG00000125363] Gene [OrphaNum:225293 ; Name:WD repeat domain 72 ; Symbol:WDR72 ; xref: ENSEMBL:ENSG00000166415 ; xref: HGNC:26790 ; xref: UNIPROTKB/SWISSPROT:Q3MJ13 ; xref: GENATLAS:WDR72 ; xref: OMIM:613214] Orphanet ID- 14606 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 Amelogenesis imperfecta type 2 Gene [OrphaNum:139176 ; Name:Matrix metallopeptidase 20 (enamelysin) ; Symbol:MMP20 ; xref: GENATLAS:MMP20 ; xref: HGNC:7167 ; xref: OMIM:604629 ; xref: UNIPROTKB/SWISSPROT:O60882 ; xref: ENSEMBL:ENSG00000137674] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; OMIM:301200 OMIM:612529 OMIM:204700 Gene [OrphaNum:139168 ; Name:Kallikrein-related peptidase 4 ; Symbol:KLK4 ; xref: OMIM:603767 ; xref: UNIPROTKB/SWISSPROT:Q9Y5K2 ; xref: GENATLAS:KLK4 ; xref: HGNC:6365 ; xref: ENSEMBL:ENSG00000167749] OMIM:613211 EXACT Amelogenesis imperfecta type 2 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Amelogenesis imperfecta type 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 Orphanet ID- 14607 OMIM:104510 Amelogenesis imperfecta type 4 Gene [OrphaNum:121113 ; Name:Distal-less homeobox 3 ; Symbol:DLX3 ; xref: GENATLAS:DLX3 ; xref: HGNC:2916 ; xref: OMIM:600525 ; xref: UNIPROTKB/SWISSPROT:O60479 ; xref: ENSEMBL:ENSG00000064195] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:K00.5 EXACT Amelogenesis imperfecta type 4 Autosomal dominant optic atrophy plus syndrome DOA+ Optic atrophy - deafness- polyneuropathy - myopathy ICD10:H47.2 DOA+ ICD10:H90.3 Optic atrophy - deafness- polyneuropathy - myopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 Orphanet ID- 1461 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:165199 EXACT Optic atrophy - deafness- polyneuropathy - myopathy EXACT DOA+ Familial pseudohyperkalemia type 1 ICD10:D58.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100039 Orphanet ID- 14612 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial pseudohyperkalemia type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D58.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100040 Orphanet ID- 14613 Familial pseudohyperkalemia, Cardiff type Orphanet ID- 14614 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100041 ICD10:D58.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant intermediate Charcot-Marie-Tooth disease type A OMIM:606483 ICD10:G60.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14616 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Orphanet ID- 14617 OMIM:606482 ICD10:G60.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:121147 ; Name:Dynamin 2 ; Symbol:DNM2 ; xref: GENATLAS:DNM2 ; xref: HGNC:2974 ; xref: OMIM:602378 ; xref: UNIPROTKB/SWISSPROT:P50570 ; xref: REACTOME:P50570 ; xref: ENSEMBL:ENSG00000079805] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ICD10:G60.0 Gene [OrphaNum:139906 ; Name:Tyrosyl-tRNA synthetase ; Symbol:YARS ; xref: GENATLAS:YARS ; xref: HGNC:12840 ; xref: OMIM:603623 ; xref: UNIPROTKB/SWISSPROT:P54577 ; xref: ENSEMBL:ENSG00000134684 ; xref: REACTOME:P54577] Orphanet ID- 14618 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:608323 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Gene [OrphaNum:123473 ; Name:Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) ; Symbol:MPZ ; xref: GENATLAS:MPZ ; xref: HGNC:7225 ; xref: OMIM:159440 ; xref: UNIPROTKB/SWISSPROT:P25189 ; xref: ENSEMBL:ENSG00000158887] Orphanet ID- 14619 ICD10:G60.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 OMIM:607791 Autosomal dominant congenital benign spinal muscular atrophy Autosomal dominant benign distal spinal muscular atrophy Autosomal dominant benign distal spinal muscular atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] OMIM:600175 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G12.2 Orphanet ID- 1462 EXACT Autosomal dominant benign distal spinal muscular atrophy Esophageal duplication cyst Orphanet ID- 14620 ICD10:Q39.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047 Tubular duplication of the esophagus ICD10:Q39.8 Orphanet ID- 14621 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies Primary ILD specific to childhood due to pulmonary surfactant protein anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049 Primary ILD specific to childhood due to pulmonary surfactant protein anomalies Orphanet ID- 14622 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Primary ILD specific to childhood due to pulmonary surfactant protein anomalies Hereditary angioedema type 1 HAE-I Hereditary angioneurotic edema type 1 OMIM:106100 HAE-I Orphanet ID- 14623 Hereditary angioneurotic edema type 1 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:118618 ; Name:Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) ; Symbol:SERPING1 ; xref: GENATLAS:SERPING1 ; xref: HGNC:1228 ; xref: OMIM:606860 ; xref: UNIPROTKB/SWISSPROT:P05155 ; xref: ENSEMBL:ENSG00000149131 ; xref: REACTOME:P05155] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050 EXACT HAE-I EXACT Hereditary angioneurotic edema type 1 Hereditary angioedema type 2 HAE-II Hereditary angioneurotic edema type 2 HAE-II Hereditary angioneurotic edema type 2 Gene [OrphaNum:118618 ; Name:Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) ; Symbol:SERPING1 ; xref: GENATLAS:SERPING1 ; xref: HGNC:1228 ; xref: OMIM:606860 ; xref: UNIPROTKB/SWISSPROT:P05155 ; xref: ENSEMBL:ENSG00000149131 ; xref: REACTOME:P05155] prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:106100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051 Orphanet ID- 14624 EXACT HAE-II EXACT Hereditary angioneurotic edema type 2 Hereditary angioedema type 3 HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioneurotic edema Inherited estrogen-associated angioedema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema Orphanet ID- 14627 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054 Inherited estrogen-dependent angioedema prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inherited estrogen-associated angioedema HAE-III Inherited estrogen-dependent angioneurotic edema Hereditary angioneurotic edema type 3 Gene [OrphaNum:121663 ; Name:Coagulation factor XII (Hageman factor) ; Symbol:F12 ; xref: GENATLAS:F12 ; xref: HGNC:3530 ; xref: OMIM:610619 ; xref: UNIPROTKB/SWISSPROT:P00748 ; xref: REACTOME:P00748 ; xref: ENSEMBL:ENSG00000131187] Inherited estrogen-associated angioneurotic edema OMIM:610618 EXACT Inherited estrogen-associated angioneurotic edema EXACT Hereditary angioneurotic edema type 3 EXACT Inherited estrogen-dependent angioneurotic edema EXACT Inherited estrogen-associated angioedema EXACT Inherited estrogen-dependent angioedema EXACT HAE-III Semantic dementia Semantic primary progressive aphasia Semantic variant PPA OMIM:172700 Semantic primary progressive aphasia Gene [OrphaNum:118099 ; Name:Presenilin 1 ; Symbol:PSEN1 ; xref: GENATLAS:PSEN1 ; xref: HGNC:9508 ; xref: OMIM:104311 ; xref: UNIPROTKB/SWISSPROT:P49768 ; xref: REACTOME:P49768 ; xref: ENSEMBL:ENSG00000080815] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 Orphanet ID- 14642 OMIM:600274 Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; ICD10:G31.0 Semantic variant PPA EXACT Semantic primary progressive aphasia EXACT Semantic variant PPA Progressive non-fluent aphasia Non-fluent primary progressive aphasia Non-fluent variant PPA OMIM:607485 OMIM:600274 OMIM:172700 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 14643 Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] Non-fluent variant PPA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 ICD10:G31.0 Gene [OrphaNum:118099 ; Name:Presenilin 1 ; Symbol:PSEN1 ; xref: GENATLAS:PSEN1 ; xref: HGNC:9508 ; xref: OMIM:104311 ; xref: UNIPROTKB/SWISSPROT:P49768 ; xref: REACTOME:P49768 ; xref: ENSEMBL:ENSG00000080815] Gene [OrphaNum:168073 ; Name:Granulin ; Symbol:GRN ; xref: GENATLAS:GRN ; xref: HGNC:4601 ; xref: OMIM:138945 ; xref: UNIPROTKB/SWISSPROT:P28799 ; xref: ENSEMBL:ENSG00000030582] Non-fluent primary progressive aphasia EXACT Non-fluent primary progressive aphasia EXACT Non-fluent variant PPA Mosaic trisomy 3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14644 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071 ICD10:Q92.1 Aurocephalosyndactyly Auralcephalosyndactyly Kurczynski-Casperson syndrome Kurczynski-Casperson syndrome Auralcephalosyndactyly OMIM:109050 ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1219 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1465 EXACT Auralcephalosyndactyly EXACT Kurczynski-Casperson syndrome Multiple polyglandular tumor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14666 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094 Porphyria due to ALA dehydratase deficiency ALAD porphyria Porphyria due to delta-Aminolevulinate dehydratase Porphyria due to delta-aminolevulinate dehydratase (ALAD) Porphyria of Doss Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 ALAD porphyria OMIM:612740 Orphanet ID- 14678 Gene [OrphaNum:119569 ; Name:Aminolevulinate, delta-, dehydratase ; Symbol:ALAD ; xref: GENATLAS:ALAD ; xref: HGNC:395 ; xref: OMIM:125270 ; xref: UNIPROTKB/SWISSPROT:P13716 ; xref: ENSEMBL:ENSG00000148218 ; xref: REACTOME:P13716] Porphyria due to delta-aminolevulinate dehydratase (ALAD) prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E80.2 Porphyria of Doss Porphyria due to delta-Aminolevulinate dehydratase EXACT Porphyria due to delta-Aminolevulinate dehydratase EXACT ALAD porphyria EXACT Porphyria due to delta-aminolevulinate dehydratase (ALAD) EXACT Porphyria of Doss Nuclear oculomotor paralysis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14679 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100932 FRAXE intellectual deficiency Intellectual deficit associated with fragile site FRAXE Intellectual deficit associated with fragile site FRAXE prevalence- 1-9 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:309548 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 Gene [OrphaNum:119509 ; Name:AF4/FMR2 family, member 2 ; Symbol:AFF2 ; xref: OMIM:300806 ; xref: UNIPROTKB/SWISSPROT:P51816 ; xref: GENATLAS:AFF2 ; xref: HGNC:3776 ; xref: ENSEMBL:ENSG00000155966] Orphanet ID- 14684 EXACT Intellectual deficit associated with fragile site FRAXE FRAXF syndrome Gene [OrphaNum:172996 ; Name:Transmembrane protein 185A ; Symbol:TMEM185A ; xref: HGNC:17125 ; xref: OMIM:300483 ; xref: UNIPROTKB/SWISSPROT:Q8NFB2 ; xref: GENATLAS:TMEM185A ; xref: ENSEMBL:ENSG00000155984] OMIM:300031 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 Orphanet ID- 14685 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Bathing suit ichthyosis BSI prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 14687 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 ICD10:Q80.2 BSI Gene [OrphaNum:120076 ; Name:Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) ; Symbol:TGM1 ; xref: GENATLAS:TGM1 ; xref: HGNC:11777 ; xref: OMIM:190195 ; xref: UNIPROTKB/SWISSPROT:P22735 ; xref: ENSEMBL:ENSG00000092295] EXACT BSI Cloverleaf skull - asphyxiating thoracic dysplasia Benallegue-Lacete syndrome Benallegue-Lacete syndrome Orphanet ID- 14689 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978 EXACT Benallegue-Lacete syndrome Baller-Gerold syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 1469 OMIM:218600 Gene [OrphaNum:118257 ; Name:RecQ protein-like 4 ; Symbol:RECQL4 ; xref: GENATLAS:RECQL4 ; xref: HGNC:9949 ; xref: OMIM:603780 ; xref: UNIPROTKB/SWISSPROT:O94761 ; xref: ENSEMBL:ENSG00000160957] Autosomal dominant complex spastic paraplegia Orphanet ID- 14690 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant pure spastic paraplegia Orphanet ID- 14691 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980 Autosomal recessive complex spastic paraplegia Orphanet ID- 14692 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100981 ICD10:G11.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive pure spastic paraplegia ICD10:G11.4 Orphanet ID- 14693 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100982 Autosomal dominant spastic paraplegia type 3 Autosomal dominant familial spastic paraplegia type 1 SPG3A Strumpell disease Gene [OrphaNum:119821 ; Name:Atlastin GTPase 1 ; Symbol:ATL1 ; xref: GENATLAS:SPG3A ; xref: HGNC:11231 ; xref: OMIM:606439 ; xref: UNIPROTKB/SWISSPROT:Q8WXF7 ; xref: ENSEMBL:ENSG00000198513] Strumpell disease OMIM:182600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 ICD10:G11.4 Orphanet ID- 14695 SPG3A Autosomal dominant familial spastic paraplegia type 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT SPG3A EXACT Strumpell disease EXACT Autosomal dominant familial spastic paraplegia type 1 Autosomal dominant spastic paraplegia type 4 Autosomal dominant familial spastic paraplegia type 2 SPG4 Gene [OrphaNum:119801 ; Name:Spastin ; Symbol:SPAST ; xref: GENATLAS:SPAST ; xref: HGNC:11233 ; xref: OMIM:604277 ; xref: UNIPROTKB/SWISSPROT:Q9UBP0 ; xref: ENSEMBL:ENSG00000021574] OMIM:182601 ICD10:G11.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 SPG4 Orphanet ID- 14696 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal dominant familial spastic paraplegia type 2 EXACT SPG4 EXACT Autosomal dominant familial spastic paraplegia type 2 Autosomal recessive spastic paraplegia type 5A SPG5A ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:270800 Gene [OrphaNum:121005 ; Name:Cytochrome P450, family 7, subfamily B, polypeptide 1 ; Symbol:CYP7B1 ; xref: GENATLAS:CYP7B1 ; xref: HGNC:2652 ; xref: OMIM:603711 ; xref: UNIPROTKB/SWISSPROT:O75881 ; xref: REACTOME:O75881 ; xref: ENSEMBL:ENSG00000172817] Orphanet ID- 14697 SPG5A Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 EXACT SPG5A Autosomal dominant spastic paraplegia type 6 Autosomal dominant familial spastic paraplegia type 3 SPG6 SPG6 Orphanet ID- 14699 OMIM:600363 Autosomal dominant familial spastic paraplegia type 3 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:123785 ; Name:Non imprinted in Prader-Willi/Angelman syndrome 1 ; Symbol:NIPA1 ; xref: GENATLAS:NIPA1 ; xref: HGNC:17043 ; xref: OMIM:608145 ; xref: UNIPROTKB/SWISSPROT:Q7RTP0 ; xref: ENSEMBL:ENSG00000170113] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 EXACT SPG6 EXACT Autosomal dominant familial spastic paraplegia type 3 Wolf-Hirschhorn syndrome 4p- syndrome Distal deletion 4p Distal monosomy 4p Telomeric deletion 4p OMIM:194190 Telomeric deletion 4p 4p- syndrome Orphanet ID- 147 Gene [OrphaNum:120525 ; Name:Wolf-Hirschhorn syndrome candidate 2 ; Symbol:WHSC2 ; xref: ENSEMBL:ENSG00000185049 ; xref: REACTOME:Q9H3P2 ; xref: GENATLAS:WHSC2 ; xref: HGNC:12768 ; xref: OMIM:606026 ; xref: UNIPROTKB/SWISSPROT:Q9H3P2] Gene [OrphaNum:120521 ; Name:Wolf-Hirschhorn syndrome candidate 1 ; Symbol:WHSC1 ; xref: ENSEMBL:ENSG00000109685 ; xref: GENATLAS:WHSC1 ; xref: HGNC:12766 ; xref: OMIM:602952 ; xref: UNIPROTKB/SWISSPROT:O96028] Gene [OrphaNum:293326 ; Name:Leucine zipper-EF-hand containing transmembrane protein 1 ; Symbol:LETM1 ; xref: HGNC:6556 ; xref: OMIM:604407 ; xref: GENATLAS:LETM1 ; xref: UNIPROTKB/SWISSPROT:O95202] Distal monosomy 4p Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 Distal deletion 4p prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Sporadic; ICD10:Q93.3 EXACT Distal deletion 4p EXACT Distal monosomy 4p EXACT 4p- syndrome EXACT Telomeric deletion 4p Bamforth syndrome Bamforth-Lazarus syndrome Hypothyroidism - cleft palate Orphanet ID- 1470 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 Gene [OrphaNum:121895 ; Name:Forkhead box E1 (thyroid transcription factor 2) ; Symbol:FOXE1 ; xref: GENATLAS:FOXE1 ; xref: HGNC:3806 ; xref: OMIM:602617 ; xref: UNIPROTKB/SWISSPROT:O00358 ; xref: ENSEMBL:ENSG00000178919] ICD10:E03.1 Bamforth-Lazarus syndrome Hypothyroidism - cleft palate OMIM:241850 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Hypothyroidism - cleft palate EXACT Bamforth-Lazarus syndrome Autosomal dominant spastic paraplegia type 8 SPG8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 OMIM:603563 ICD10:G11.4 SPG8 Gene [OrphaNum:122831 ; Name:KIAA0196 ; Symbol:KIAA0196 ; xref: GENATLAS:KIAA0196 ; xref: HGNC:28984 ; xref: OMIM:610657 ; xref: UNIPROTKB/SWISSPROT:Q12768 ; xref: ENSEMBL:ENSG00000164961] Orphanet ID- 14700 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT SPG8 Autosomal dominant spastic paraplegia type 9 Cataracts motor neuropathy - short stature - skeletal anomalies SPG9 Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100990 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; SPG9 Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux Orphanet ID- 14701 ICD10:G11.4 Gene [OrphaNum:180224 ; Name:Spastic paraplegia 9 (autosomal dominant) ; Symbol:SPG9 ; xref: HGNC:11239 ; xref: OMIM:601162] Cataracts motor neuropathy - short stature - skeletal anomalies OMIM:601162 EXACT Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux EXACT SPG9 EXACT Cataracts motor neuropathy - short stature - skeletal anomalies Autosomal dominant spastic paraplegia type 10 SPG10 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14702 SPG10 OMIM:604187 Gene [OrphaNum:122851 ; Name:Kinesin family member 5A ; Symbol:KIF5A ; xref: GENATLAS:KIF5A ; xref: HGNC:6323 ; xref: OMIM:602821 ; xref: UNIPROTKB/SWISSPROT:Q12840 ; xref: ENSEMBL:ENSG00000155980 ; xref: REACTOME:Q12840] ICD10:G11.4 EXACT SPG10 Autosomal dominant spastic paraplegia type 12 SPG12 Gene [OrphaNum:180211 ; Name:Reticulon 2 ; Symbol:RTN2 ; xref: GENATLAS:RTN2 ; xref: UNIPROTKB/SWISSPROT:O75298 ; xref: HGNC:10468 ; xref: OMIM:603183] SPG12 Orphanet ID- 14704 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:604805 ICD10:G11.4 EXACT SPG12 Autosomal dominant spastic paraplegia type 13 SPG13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 Orphanet ID- 14705 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; SPG13 OMIM:605280 Gene [OrphaNum:122542 ; Name:Heat shock 60kDa protein 1 (chaperonin) ; Symbol:HSPD1 ; xref: GENATLAS:HSPD1 ; xref: HGNC:5261 ; xref: OMIM:118190 ; xref: UNIPROTKB/SWISSPROT:P10809 ; xref: ENSEMBL:ENSG00000144381 ; xref: REACTOME:P10809] EXACT SPG13 Autosomal recessive spastic paraplegia type 14 SPG14 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 14706 OMIM:605229 Gene [OrphaNum:180294 ; Name:Spastic paraplegia 14 (autosomal recessive) ; Symbol:SPG14 ; xref: HGNC:13730 ; xref: GENATLAS:605229] SPG14 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995 EXACT SPG14 Autosomal recessive spastic paraplegia type 15 Kjellin syndrome SPG15 Spastic paraplegia - retinal degeneration Spastic paraplegia - retinal degeneration prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G11.4 Orphanet ID- 14707 SPG15 Gene [OrphaNum:159390 ; Name:Zinc finger, FYVE domain containing 26 ; Symbol:ZFYVE26 ; xref: GENATLAS:ZFYVE26 ; xref: HGNC:20761 ; xref: OMIM:612012 ; xref: UNIPROTKB/SWISSPROT:Q68DK2 ; xref: ENSEMBL:ENSG00000072121] Kjellin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 OMIM:270700 EXACT Spastic paraplegia - retinal degeneration EXACT SPG15 EXACT Kjellin syndrome X-linked spastic paraplegia type 16 SPG16 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 Orphanet ID- 14708 Gene [OrphaNum:180322 ; Name:Spastic paraplegia 16 (complicated, X-linked recessive) ; Symbol:SPG16 ; xref: HGNC:14260 ; xref: OMIM:300266] ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; SPG16 OMIM:300266 EXACT SPG16 Autosomal dominant spastic paraplegia type 17 Distal hereditary motor neuropathy type 5B HMN5B SPG17 Silver Syndrome Spastic paraplegia-amyotrophy of hands and feet SPG17 ICD10:G11.4 HMN5B Distal hereditary motor neuropathy type 5B OMIM:270685 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Silver Syndrome Gene [OrphaNum:119085 ; Name:Bernardinelli-Seip congenital lipodystrophy 2 (seipin) ; Symbol:BSCL2 ; xref: GENATLAS:BSCL2 ; xref: HGNC:15832 ; xref: OMIM:606158 ; xref: UNIPROTKB/SWISSPROT:Q96G97 ; xref: ENSEMBL:ENSG00000168000] Spastic paraplegia-amyotrophy of hands and feet Orphanet ID- 14709 EXACT Spastic paraplegia-amyotrophy of hands and feet EXACT Distal hereditary motor neuropathy type 5B EXACT HMN5B EXACT SPG17 EXACT Silver Syndrome Bangstad syndrome Ataxia - diabetes - goiter - gonadal insufficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227 Ataxia - diabetes - goiter - gonadal insufficiency Orphanet ID- 1471 OMIM:210740 ICD10:Q87.1 EXACT Ataxia - diabetes - goiter - gonadal insufficiency Autosomal dominant spastic paraplegia type 19 SPG19 Gene [OrphaNum:180213 ; Name:Spastic paraplegia 19 (autosomal dominant) ; Symbol:SPG19 ; xref: HGNC:16706 ; xref: OMIM:607152] ICD10:G11.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 OMIM:607152 SPG19 Orphanet ID- 14710 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT SPG19 Autosomal recessive spastic paraplegia type 20 Childhood-onset spastic paraparesis - distal muscle wasting SPG20 Troyer syndrome Troyer syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 ICD10:G11.4 Orphanet ID- 14711 OMIM:275900 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; SPG20 Gene [OrphaNum:119811 ; Name:Spastic paraplegia 20 (Troyer syndrome) ; Symbol:SPG20 ; xref: GENATLAS:SPG20 ; xref: HGNC:18514 ; xref: OMIM:607111 ; xref: UNIPROTKB/SWISSPROT:Q8N0X7 ; xref: ENSEMBL:ENSG00000133104] Childhood-onset spastic paraparesis - distal muscle wasting EXACT Troyer syndrome EXACT SPG20 EXACT Childhood-onset spastic paraparesis - distal muscle wasting Autosomal recessive spastic paraplegia type 21 Mast syndrome SPG21 SPG21 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 ICD10:G11.4 Gene [OrphaNum:119815 ; Name:Spastic paraplegia 21 (autosomal recessive, Mast syndrome) ; Symbol:SPG21 ; xref: GENATLAS:SPG21 ; xref: HGNC:20373 ; xref: OMIM:608181 ; xref: UNIPROTKB/SWISSPROT:Q9NZD8 ; xref: ENSEMBL:ENSG00000090487] OMIM:248900 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Mast syndrome Orphanet ID- 14712 EXACT Mast syndrome EXACT SPG21 Autosomal recessive spastic paraplegia type 23 Lison syndrome SPG23 Spastic paraparesis - vitiligo - premature graying - characteristic facies Orphanet ID- 14714 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Spastic paraparesis - vitiligo - premature graying - characteristic facies Lison syndrome OMIM:270750 ICD10:G11.4 Gene [OrphaNum:180301 ; Name:Spastic paraplegia 23 (autosomal recessive) ; Symbol:SPG23 ; xref: HGNC:21340 ; xref: OMIM:270750] SPG23 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 EXACT SPG23 EXACT Lison syndrome EXACT Spastic paraparesis - vitiligo - premature graying - characteristic facies Autosomal recessive spastic paraplegia type 24 SPG24 SPG24 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 Orphanet ID- 14715 OMIM:607584 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:180270 ; Name:Spastic paraplegia 24 (autosomal recessive) ; Symbol:SPG24 ; xref: HGNC:22993 ; xref: OMIM:607584] EXACT SPG24 Autosomal recessive spastic paraplegia type 25 Autosomal recessive spastic paraplegia - disc herniation SPG25 OMIM:608220 Orphanet ID- 14716 Autosomal recessive spastic paraplegia - disc herniation SPG25 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:180307 ; Name:Spastic paraplegia 25 (autosomal recessive, with disc herniation) ; Symbol:SPG25 ; xref: HGNC:25855 ; xref: OMIM:608220] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 EXACT Autosomal recessive spastic paraplegia - disc herniation EXACT SPG25 Autosomal recessive spastic paraplegia type 26 SPG26 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; SPG26 Gene [OrphaNum:180309 ; Name:Spastic paraplegia 26 ; Symbol:SPG26 ; xref: HGNC:22494 ; xref: OMIM:609195] OMIM:609195 Orphanet ID- 14717 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 ICD10:G11.4 EXACT SPG26 Autosomal recessive spastic paraplegia type 27 SPG27 OMIM:609041 SPG27 Orphanet ID- 14718 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G11.4 Gene [OrphaNum:180316 ; Name:Spastic paraplegia 27 (autosomal recessive) ; Symbol:SPG27 ; xref: HGNC:26071 ; xref: OMIM:609041] EXACT SPG27 Autosomal recessive spastic paraplegia type 28 SPG28 OMIM:609340 Orphanet ID- 14719 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 Gene [OrphaNum:180273 ; Name:Spastic paraplegia 28 (autosomal recessive) ; Symbol:SPG28 ; xref: HGNC:13682 ; xref: OMIM:609340] SPG28 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT SPG28 Banki syndrome Orphanet ID- 1472 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228 ICD10:Q68.1 OMIM:109300 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Autosomal dominant spastic paraplegia type 29 SPG29 Gene [OrphaNum:180232 ; Name:Spastic paraplegia 29 (autosomal dominant) ; Symbol:SPG29 ; xref: HGNC:30161 ; xref: OMIM:609727] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 OMIM:609727 SPG29 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14720 EXACT SPG29 Autosomal recessive spastic paraplegia type 30 SPG30 SPG30 ICD10:G11.4 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:279771 ; Name:Kinesin family member 1A ; Symbol:KIF1A ; xref: ENSEMBL:ENSG00000130294 ; xref: HGNC:888 ; xref: OMIM:601255 ; xref: GENATLAS:KIF1A ; xref: UNIPROTKB/SWISSPROT:Q12756] Orphanet ID- 14721 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 OMIM:610357 EXACT SPG30 Autosomal dominant spastic paraplegia type 31 SPG31 Orphanet ID- 14722 ICD10:G11.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 SPG31 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:610250 Gene [OrphaNum:118260 ; Name:Receptor accessory protein 1 ; Symbol:REEP1 ; xref: GENATLAS:REEP1 ; xref: HGNC:25786 ; xref: OMIM:609139 ; xref: UNIPROTKB/SWISSPROT:Q9H902 ; xref: ENSEMBL:ENSG00000068615] EXACT SPG31 Romano-Ward syndrome Gene [OrphaNum:160008 ; Name:A kinase (PRKA) anchor protein (yotiao) 9 ; Symbol:AKAP9 ; xref: GENATLAS:AKAP9 ; xref: HGNC:379 ; xref: OMIM:604001 ; xref: UNIPROTKB/SWISSPROT:Q9Y6Y2 ; xref: REACTOME:Q9Y6Y2 ; xref: ENSEMBL:ENSG00000127914] OMIM:612955 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 OMIM:613688 Gene [OrphaNum:122770 ; Name:Potassium voltage-gated channel, Isk-related family, member 2 ; Symbol:KCNE2 ; xref: GENATLAS:KCNE2 ; xref: HGNC:6242 ; xref: OMIM:603796 ; xref: UNIPROTKB/SWISSPROT:Q9Y6J6 ; xref: ENSEMBL:ENSG00000159197] OMIM:600919 OMIM:613693 OMIM:613695 OMIM:611818 Gene [OrphaNum:218358 ; Name:Syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) ; Symbol:SNTA1 ; xref: ENSEMBL:ENSG00000101400 ; xref: GENATLAS:SNTA1 ; xref: HGNC:11167 ; xref: OMIM:601017 ; xref: UNIPROTKB/SWISSPROT:Q13424] OMIM:613485 OMIM:611819 OMIM:192500 Gene [OrphaNum:235181 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 5 ; Symbol:KCNJ5 ; xref: IUPHAR:437 ; xref: ENSEMBL:ENSG00000120457 ; xref: REACTOME:P48544 ; xref: HGNC:6266 ; xref: GENATLAS:KCNJ5 ; xref: OMIM:600734 ; xref: UNIPROTKB/SWISSPROT:P48544] Orphanet ID- 14727 Gene [OrphaNum:122763 ; Name:Potassium voltage-gated channel, Isk-related family, member 1 ; Symbol:KCNE1 ; xref: GENATLAS:KCNE1 ; xref: HGNC:6240 ; xref: OMIM:176261 ; xref: UNIPROTKB/SWISSPROT:P15382 ; xref: ENSEMBL:ENSG00000180509] Gene [OrphaNum:121360 ; Name:Ankyrin 2, neuronal ; Symbol:ANK2 ; xref: GENATLAS:ANK2 ; xref: HGNC:493 ; xref: OMIM:106410 ; xref: UNIPROTKB/SWISSPROT:Q01484 ; xref: REACTOME:Q01484 ; xref: ENSEMBL:ENSG00000145362] Gene [OrphaNum:122800 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 1 ; Symbol:KCNQ1 ; xref: GENATLAS:KCNQ1 ; xref: HGNC:6294 ; xref: OMIM:607542 ; xref: UNIPROTKB/SWISSPROT:P51787 ; xref: REACTOME:P51787 ; xref: IUPHAR:560 ; xref: ENSEMBL:ENSG00000053918] Gene [OrphaNum:122777 ; Name:Potassium voltage-gated channel, subfamily H (eag-related), member 2 ; Symbol:KCNH2 ; xref: GENATLAS:KCNH2 ; xref: HGNC:6251 ; xref: OMIM:152427 ; xref: UNIPROTKB/SWISSPROT:Q12809 ; xref: ENSEMBL:ENSG00000055118 ; xref: IUPHAR:572 ; xref: REACTOME:Q12809] Gene [OrphaNum:301126 ; Name:Asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) ; Symbol:ALG10 ; xref: HGNC:23162 ; xref: OMIM:603313 ; xref: GENATLAS:ALG10 ; xref: UNIPROTKB/SWISSPROT:Q5BKT4] Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:603830 Gene [OrphaNum:160018 ; Name:Sodium channel, voltage-gated, type IV, beta ; Symbol:SCN4B ; xref: GENATLAS:SCN4B ; xref: HGNC:10592 ; xref: OMIM:608256 ; xref: UNIPROTKB/SWISSPROT:Q8IWT1 ; xref: ENSEMBL:ENSG00000177098] Gene [OrphaNum:119194 ; Name:Caveolin 3 ; Symbol:CAV3 ; xref: GENATLAS:CAV3 ; xref: HGNC:1529 ; xref: OMIM:601253 ; xref: UNIPROTKB/SWISSPROT:P56539 ; xref: ENSEMBL:ENSG00000182533] Gene [OrphaNum:289008 ; Name:Nitric oxide synthase 1 (neuronal) adaptor protein ; Symbol:NOS1AP ; xref: HGNC:16859 ; xref: OMIM:605551 ; xref: GENATLAS:NOS1AP ; xref: UNIPROTKB/SWISSPROT:O75052 ; xref: ENSEMBL:ENSG00000198929] OMIM:611820 Bannayan-Riley-Ruvalcaba syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] Orphanet ID- 1473 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 ICD10:Q87.8 OMIM:153480 Mediterranean macrothrombocytopenia Orphanet ID- 14733 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D69.1 OMIM:210250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101022 Transaldolase deficiency TALDO Gene [OrphaNum:183893 ; Name:Transaldolase 1 ; Symbol:TALDO1 ; xref: REACTOME:P37837 ; xref: ENSEMBL:ENSG00000177156 ; xref: GENATLAS:TALDO1 ; xref: HGNC:11559 ; xref: OMIM:602063 ; xref: UNIPROTKB/SWISSPROT:P37837] ICD10:E74.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:606003 Orphanet ID- 14739 TALDO EXACT TALDO Congenital intrauterine infection-like syndrome Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome Microcephaly - intracranial calcification - intellectual deficit Pseudo-TORCH syndrome Gene [OrphaNum:239959 ; Name:Occludin ; Symbol:OCLN ; xref: ENSEMBL:ENSG00000197822 ; xref: REACTOME:Q16625 ; xref: GENATLAS:OCLN ; xref: HGNC:8104 ; xref: UNIPROTKB/SWISSPROT:Q16625 ; xref: OMIM:602876] Pseudo-TORCH syndrome ICD10:Q87.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Baraitser-Brett-Piesowicz syndrome Baraitser-Reardon syndrome OMIM:251290 Orphanet ID- 1474 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 Microcephaly - intracranial calcification - intellectual deficit EXACT Microcephaly - intracranial calcification - intellectual deficit EXACT Baraitser-Reardon syndrome EXACT Pseudo-TORCH syndrome EXACT Baraitser-Brett-Piesowicz syndrome Sub-cortical nodular heterotopia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 Orphanet ID- 14740 ICD10:Q04.8 Subependymal nodular heterotopia ICD10:Q04.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 Orphanet ID- 14741 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Leshima-Koeda-Inagaki syndrome - intellectual deficit prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101031 Orphanet ID- 14742 Peters anomaly - cataract prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101033 Orphanet ID- 14744 Zlotogura-Martinez syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101036 Orphanet ID- 14747 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Female restricted epilepsy with intellectual deficit EFMR Familial epilepsy and mental retardation limited to females Gene [OrphaNum:168339 ; Name:Protocadherin 19 ; Symbol:PCDH19 ; xref: GENATLAS:PCDH19 ; xref: HGNC:14270 ; xref: OMIM:300460 ; xref: UNIPROTKB/SWISSPROT:Q8TAB3 ; xref: ENSEMBL:ENSG00000165194] EFMR prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300088 Familial epilepsy and mental retardation limited to females Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039 Orphanet ID- 14750 EXACT EFMR EXACT Familial epilepsy and mental retardation limited to females Familial hypofibrinogenemia Gene [OrphaNum:121821 ; Name:Fibrinogen gamma chain ; Symbol:FGG ; xref: GENATLAS:FGG ; xref: HGNC:3694 ; xref: OMIM:134850 ; xref: UNIPROTKB/SWISSPROT:P02679 ; xref: ENSEMBL:ENSG00000171557 ; xref: REACTOME:P02679] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 OMIM:202400 Orphanet ID- 14752 Gene [OrphaNum:121786 ; Name:Fibrinogen alpha chain ; Symbol:FGA ; xref: GENATLAS:FGA ; xref: HGNC:3661 ; xref: OMIM:134820 ; xref: UNIPROTKB/SWISSPROT:P02671 ; xref: ENSEMBL:ENSG00000171560 ; xref: REACTOME:P02671] Gene [OrphaNum:121788 ; Name:Fibrinogen beta chain ; Symbol:FGB ; xref: GENATLAS:FGB ; xref: HGNC:3662 ; xref: OMIM:134830 ; xref: UNIPROTKB/SWISSPROT:P02675 ; xref: ENSEMBL:ENSG00000171564 ; xref: REACTOME:P02675] ICD10:D68.2 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Taussig-Bing syndrome ICD10:Q20.1 Orphanet ID- 14753 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101042 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant lateral temporal lobe epilepsy ADLTE ADPEAF Partial epilepsy with auditory aura Partial epilepsy with auditory features Gene [OrphaNum:123042 ; Name:Leucine-rich, glioma inactivated 1 ; Symbol:LGI1 ; xref: GENATLAS:LGI1 ; xref: HGNC:6572 ; xref: OMIM:604619 ; xref: UNIPROTKB/SWISSPROT:O95970 ; xref: ENSEMBL:ENSG00000108231] OMIM:600512 Partial epilepsy with auditory features ADPEAF Partial epilepsy with auditory aura prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ADLTE Orphanet ID- 14757 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 EXACT Partial epilepsy with auditory features EXACT ADPEAF EXACT Partial epilepsy with auditory aura EXACT ADLTE Barber-Say syndrome Hypertrichosis - atrophic skin - ectropion - macrostomia Orphanet ID- 1476 Hypertrichosis - atrophic skin - ectropion - macrostomia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; OMIM:209885 EXACT Hypertrichosis - atrophic skin - ectropion - macrostomia Familial hypocalciuric hypercalcemia type 2 Orphanet ID- 14760 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 OMIM:145981 ICD10:E83.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial hypocalciuric hypercalcemia type 3 Orphanet ID- 14761 ICD10:E83.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:600740 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 Microlissencephaly type B Orphanet ID- 14763 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101052 ICD10:Q04.3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Situs inversus totalis Complete situs inversus Complete situs inversus viscerum Situs inversus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Complete situs inversus Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] Complete situs inversus viscerum ICD10:Q89.3 OMIM:270100 Situs inversus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 Orphanet ID- 14774 Gene [OrphaNum:240691 ; Name:Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 ; Symbol:CITED2 ; xref: OMIM:602937 ; xref: UNIPROTKB/SWISSPROT:Q99967 ; xref: GENATLAS:CITED2 ; xref: HGNC:1987 ; xref: ENSEMBL:ENSG00000164442] OMIM:601086 EXACT Complete situs inversus EXACT Complete situs inversus viscerum EXACT Situs inversus Congenital stromal corneal dystrophy CSCD Congenital hereditary stromal dystrophy Witschel dystrophy Gene [OrphaNum:121034 ; Name:Decorin ; Symbol:DCN ; xref: GENATLAS:DCN ; xref: HGNC:2705 ; xref: OMIM:125255 ; xref: UNIPROTKB/SWISSPROT:P07585 ; xref: ENSEMBL:ENSG00000011465] Witschel dystrophy Orphanet ID- 14779 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital hereditary stromal dystrophy CSCD OMIM:610048 EXACT Congenital hereditary stromal dystrophy EXACT Witschel dystrophy EXACT CSCD Bartsocas-Papas syndrome Lethal popliteal pterygium syndrome ICD10:Q87.2 Lethal popliteal pterygium syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 OMIM:263650 Gene [OrphaNum:291802 ; Name:Receptor-interacting serine-threonine kinase 4 ; Symbol:RIPK4 ; xref: HGNC:496 ; xref: OMIM:605706 ; xref: GENATLAS:RIPK4 ; xref: UNIPROTKB/SWISSPROT:P57078 ; xref: ENSEMBL:ENSG00000183421] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 1478 EXACT Lethal popliteal pterygium syndrome Bilateral frontoparietal polymicrogyria OMIM:606854 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122266 ; Name:G protein-coupled receptor 56 ; Symbol:GPR56 ; xref: GENATLAS:GPR56 ; xref: HGNC:4512 ; xref: OMIM:604110 ; xref: UNIPROTKB/SWISSPROT:Q9Y653 ; xref: IUPHAR:186 ; xref: ENSEMBL:ENSG00000205336] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 ICD10:Q04.3 Orphanet ID- 14781 Unilateral hemispheric polymicrogyria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 ICD10:Q04.3 Orphanet ID- 14782 X-linked Charcot-Marie-Tooth disease type 1 CMT1X CMT1X ICD10:G60.0 OMIM:302800 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 Gene [OrphaNum:122124 ; Name:Gap junction protein, beta 1, 32kDa ; Symbol:GJB1 ; xref: GENATLAS:GJB1 ; xref: HGNC:4283 ; xref: OMIM:304040 ; xref: UNIPROTKB/SWISSPROT:P08034 ; xref: ENSEMBL:ENSG00000169562 ; xref: REACTOME:P08034] Orphanet ID- 14786 EXACT CMT1X X-linked Charcot-Marie-Tooth disease type 2 CMT2X OMIM:302801 ICD10:G60.0 Orphanet ID- 14787 CMT2X prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 EXACT CMT2X X-linked Charcot-Marie-Tooth disease type 3 CMT3X prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 OMIM:302802 Orphanet ID- 14788 CMT3X EXACT CMT3X X-linked Charcot-Marie-Tooth disease type 4 CMT4X Cowchock syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 Orphanet ID- 14789 Cowchock syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:G60.0 CMT4X OMIM:310490 EXACT CMT4X EXACT Cowchock syndrome Charcot-Marie-Tooth disease type 1A CMT1A Microduplication 17p12 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; CMT1A OMIM:118220 Microduplication 17p12 Orphanet ID- 14792 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 ICD10:G60.0 Gene [OrphaNum:117908 ; Name:Peripheral myelin protein 22 ; Symbol:PMP22 ; xref: GENATLAS:PMP22 ; xref: HGNC:9118 ; xref: OMIM:601097 ; xref: UNIPROTKB/SWISSPROT:Q01453 ; xref: ENSEMBL:ENSG00000109099] EXACT Microduplication 17p12 EXACT CMT1A Charcot-Marie-Tooth disease type 1B CMT1B Gene [OrphaNum:123473 ; Name:Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) ; Symbol:MPZ ; xref: GENATLAS:MPZ ; xref: HGNC:7225 ; xref: OMIM:159440 ; xref: UNIPROTKB/SWISSPROT:P25189 ; xref: ENSEMBL:ENSG00000158887] OMIM:118200 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 Orphanet ID- 14793 CMT1B ICD10:G60.0 EXACT CMT1B Charcot-Marie-Tooth disease type 1C CMT1C Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083 CMT1C ICD10:G60.0 Orphanet ID- 14794 Gene [OrphaNum:123070 ; Name:Lipopolysaccharide-induced TNF factor ; Symbol:LITAF ; xref: GENATLAS:LITAF ; xref: HGNC:16841 ; xref: OMIM:603795 ; xref: UNIPROTKB/SWISSPROT:Q99732 ; xref: ENSEMBL:ENSG00000189067] OMIM:601098 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT CMT1C Charcot-Marie-Tooth disease type 1D CMT1D ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 14795 Gene [OrphaNum:121314 ; Name:Early growth response 2 (Krox-20 homolog, Drosophila) ; Symbol:EGR2 ; xref: GENATLAS:EGR2 ; xref: HGNC:3239 ; xref: OMIM:129010 ; xref: UNIPROTKB/SWISSPROT:P11161 ; xref: ENSEMBL:ENSG00000122877 ; xref: REACTOME:P11161] OMIM:607678 CMT1D EXACT CMT1D Charcot-Marie-Tooth disease type 1F CMT1F prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:607734 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 Gene [OrphaNum:123754 ; Name:Neurofilament, light polypeptide 68kDa ; Symbol:NEFL ; xref: GENATLAS:NEFL ; xref: HGNC:7739 ; xref: OMIM:162280 ; xref: UNIPROTKB/SWISSPROT:P07196 ; xref: ENSEMBL:ENSG00000104725 ; xref: REACTOME:P07196] ICD10:G60.0 Orphanet ID- 14796 CMT1F EXACT CMT1F X-linked hyper-IgM syndrome HIGM1 Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome type 1 XHIGM OMIM:308230 HIGM1 Gene [OrphaNum:119249 ; Name:CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome) ; Symbol:CD40LG ; xref: GENATLAS:CD40LG ; xref: HGNC:11935 ; xref: OMIM:300386 ; xref: UNIPROTKB/SWISSPROT:P29965 ; xref: ENSEMBL:ENSG00000102245 ; xref: REACTOME:P29965] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101088 Hyper-IgM syndrome due to CD40L deficiency XHIGM Hyper-IgM syndrome type 1 Orphanet ID- 14799 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hyper-IgM syndrome due to CD40 ligand deficiency EXACT Hyper-IgM syndrome due to CD40 ligand deficiency EXACT HIGM1 EXACT XHIGM EXACT Hyper-IgM syndrome due to CD40L deficiency EXACT Hyper-IgM syndrome type 1 Achondroplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 148 ICD10:Q77.4 OMIM:100800 Hyper-IgM syndrome type 2 AID deficiency Activation-induced cytidine deaminase deficiency HIGM2 Activation-induced cytidine deaminase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101089 OMIM:605258 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14800 AID deficiency Gene [OrphaNum:119554 ; Name:Activation-induced cytidine deaminase ; Symbol:AICDA ; xref: GENATLAS:AICDA ; xref: HGNC:13203 ; xref: OMIM:605257 ; xref: UNIPROTKB/SWISSPROT:Q9GZX7 ; xref: ENSEMBL:ENSG00000111732] HIGM2 EXACT Activation-induced cytidine deaminase deficiency EXACT HIGM2 EXACT AID deficiency Hyper-IgM syndrome type 3 HIGM3 Hyper-IgM syndrome due to CD40 deficiency Gene [OrphaNum:119244 ; Name:CD40 molecule, TNF receptor superfamily member 5 ; Symbol:CD40 ; xref: UNIPROTKB/SWISSPROT:P25942 ; xref: GENATLAS:CD40 ; xref: HGNC:11919 ; xref: OMIM:109535 ; xref: ENSEMBL:ENSG00000101017 ; xref: REACTOME:P25942] Hyper-IgM syndrome due to CD40 deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; HIGM3 OMIM:606843 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101090 Orphanet ID- 14801 EXACT HIGM3 EXACT Hyper-IgM syndrome due to CD40 deficiency Hyper-IgM syndrome type 4 HIGM4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14802 HIGM4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101091 OMIM:608184 EXACT HIGM4 Hyper-IgM syndrome type 5 HIGM5 Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N glycosylase Orphanet ID- 14803 OMIM:608106 Hyper-IgM syndrome due to uracil N glycosylase HIGM5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101092 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120421 ; Name:Uracil-DNA glycosylase ; Symbol:UNG ; xref: GENATLAS:UNG ; xref: HGNC:12572 ; xref: OMIM:191525 ; xref: UNIPROTKB/SWISSPROT:P13051 ; xref: ENSEMBL:ENSG00000076248] Hyper-IgM syndrome due to UNG deficiency EXACT Hyper-IgM syndrome due to uracil N glycosylase EXACT HIGM5 EXACT Hyper-IgM syndrome due to UNG deficiency Autosomal recessive Charcot-Marie-Tooth disease with hoarseness ARCMT2K Autosomal recessive axonal CMT4C4 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K OMIM:607706 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 Orphanet ID- 14808 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K Autosomal recessive axonal CMT4C4 ICD10:G60.0 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ARCMT2K OMIM:607831 Gene [OrphaNum:122064 ; Name:Ganglioside-induced differentiation-associated protein 1 ; Symbol:GDAP1 ; xref: GENATLAS:GDAP1 ; xref: HGNC:15968 ; xref: OMIM:606598 ; xref: UNIPROTKB/SWISSPROT:Q8TB36 ; xref: ENSEMBL:ENSG00000104381] EXACT Autosomal recessive axonal CMT4C4 EXACT Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K EXACT ARCMT2K Congenital contractural arachnodactyly Beals syndrome Beals-Hecht syndrome CCA syndrome Distal arthrogryposis type 9 Beals-Hecht syndrome ICD10:Q87.8 Gene [OrphaNum:121760 ; Name:Fibrillin 2 (congenital contractural arachnodactyly) ; Symbol:FBN2 ; xref: GENATLAS:FBN2 ; xref: HGNC:3604 ; xref: OMIM:612570 ; xref: UNIPROTKB/SWISSPROT:P35556 ; xref: ENSEMBL:ENSG00000138829] Distal arthrogryposis type 9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Beals syndrome CCA syndrome OMIM:121050 Orphanet ID- 1481 EXACT Beals syndrome EXACT Beals-Hecht syndrome EXACT CCA syndrome EXACT Distal arthrogryposis type 9 Charcot-Marie-Tooth disease type 2B2 AR-CMT2B2 Autosomal recessive axonal CMT4C3 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 ICD10:G60.0 AR-CMT2B2 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 Orphanet ID- 14812 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 Gene [OrphaNum:167742 ; Name:Mediator complex subunit 25 ; Symbol:MED25 ; xref: GENATLAS:MED25 ; xref: HGNC:28845 ; xref: OMIM:610197 ; xref: REACTOME:Q71SY5 ; xref: ENSEMBL:ENSG00000104973 ; xref: UNIPROTKB/SWISSPROT:Q71SY5] Autosomal recessive axonal CMT4C3 OMIM:605589 EXACT Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 EXACT AR-CMT2B2 EXACT Autosomal recessive axonal CMT4C3 Charcot-Marie-Tooth disease type 2H AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; AR-CMT2C Axonal Charcot-Marie-Tooth disease with pyramidal involvement Gene [OrphaNum:122064 ; Name:Ganglioside-induced differentiation-associated protein 1 ; Symbol:GDAP1 ; xref: GENATLAS:GDAP1 ; xref: HGNC:15968 ; xref: OMIM:606598 ; xref: UNIPROTKB/SWISSPROT:Q8TB36 ; xref: ENSEMBL:ENSG00000104381] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 ICD10:G60.0 Autosomal recessive axonal CMT4C2 Orphanet ID- 14813 OMIM:607731 EXACT Autosomal recessive axonal CMT4C2 EXACT AR-CMT2C EXACT Axonal Charcot-Marie-Tooth disease with pyramidal involvement Marin-Amat syndrome Orphanet ID- 14815 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Spinocerebellar ataxia type 22 SCA22 Orphanet ID- 14818 SCA22 ICD10:G11 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101107 Gene [OrphaNum:212592 ; Name:Spinocerebellar ataxia 22 ; Symbol:SCA22 ; xref: HGNC:17320] OMIM:607346 EXACT SCA22 Spinocerebellar ataxia type 23 SCA23 OMIM:610245 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G11 SCA23 Orphanet ID- 14819 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 Gene [OrphaNum:212594 ; Name:Prodynorphin ; Symbol:PDYN ; xref: ENSEMBL:ENSG00000101327 ; xref: REACTOME:P01213 ; xref: UNIPROTKB/SWISSPROT:P01213 ; xref: OMIM:131340 ; xref: GENATLAS:PDYN ; xref: HGNC:8820] EXACT SCA23 Auriculoosteodysplasia OMIM:109000 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 Orphanet ID- 1482 Spinocerebellar ataxia type 28 SCA28 Orphanet ID- 14820 Gene [OrphaNum:212604 ; Name:AFG3 ATPase family gene 3-like 2 (yeast) ; Symbol:AFG3L2 ; xref: ENSEMBL:ENSG00000141385 ; xref: HGNC:315 ; xref: GENATLAS:AFG3L2 ; xref: OMIM:604581 ; xref: UNIPROTKB/SWISSPROT:Q9Y4W6] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 OMIM:610246 ICD10:G11 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; SCA28 EXACT SCA28 Spinocerebellar ataxia type 20 SCA20 OMIM:608687 ICD10:G11 Gene [OrphaNum:212610 ; Name:Spinocerebellar ataxia 20 ; Symbol:SCA20 ; xref: HGNC:17204 ; xref: OMIM:608687] Orphanet ID- 14821 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; SCA20 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 EXACT SCA20 Spinocerebellar ataxia type 25 SCA25 SCA25 ICD10:G11 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:212612 ; Name:Spinocerebellar ataxia 25 ; Symbol:SCA25 ; xref: HGNC:20684 ; xref: OMIM:608703] OMIM:608703 Orphanet ID- 14822 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 EXACT SCA25 Spinocerebellar ataxia type 26 SCA26 ICD10:G11 OMIM:609306 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 SCA26 Gene [OrphaNum:212614 ; Name:Spinocerebellar ataxia 26 ; Symbol:SCA26 ; xref: OMIM:609306 ; xref: HGNC:31097] Orphanet ID- 14823 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT SCA26 Autosomal recessive dopa-responsive dystonia Autosomal recessive Segawa syndrome Tyrosine hydroxylase deficiency Orphanet ID- 14826 Autosomal recessive Segawa syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 ICD10:G24.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:605407 Gene [OrphaNum:120086 ; Name:Tyrosine hydroxylase ; Symbol:TH ; xref: UNIPROTKB/SWISSPROT:P07101 ; xref: GENATLAS:TH ; xref: HGNC:11782 ; xref: OMIM:191290 ; xref: REACTOME:P07101 ; xref: ENSEMBL:ENSG00000180176] Tyrosine hydroxylase deficiency EXACT Autosomal recessive Segawa syndrome EXACT Tyrosine hydroxylase deficiency Beemer-Ertbruggen syndrome ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 1483 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237 OMIM:209970 Neuroaxonal dystrophy, Schindler type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101187 Orphanet ID- 14830 Porphyria cutanea tarda PCT Gene [OrphaNum:120429 ; Name:Uroporphyrinogen decarboxylase ; Symbol:UROD ; xref: HGNC:12591 ; xref: UNIPROTKB/SWISSPROT:P06132 ; xref: OMIM:613521 ; xref: GENATLAS:UROD ; xref: ENSEMBL:ENSG00000126088 ; xref: REACTOME:P06132] Gene [OrphaNum:123411 ; Name:Hemochromatosis gene ; Symbol:HFE ; xref: OMIM:613609 ; xref: GENATLAS:HFE ; xref: HGNC:4886 ; xref: UNIPROTKB/SWISSPROT:Q30201 ; xref: ENSEMBL:ENSG00000010704] ICD10:E80.1 prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:176090 Orphanet ID- 14841 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 PCT OMIM:176100 EXACT PCT Behr syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 OMIM:210000 ICD10:G11.8 Orphanet ID- 1485 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Familial isolated congenital asplenia ICD10:Q89.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 OMIM:271400 Orphanet ID- 14855 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Metaphyseal acroscyphodysplasia Bellini syndrome Intellectual deficit - short stature - wedge shaped epiphyses of knees Bellini syndrome Orphanet ID- 1486 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1240 OMIM:250215 ICD10:Q78.5 Intellectual deficit - short stature - wedge shaped epiphyses of knees EXACT Intellectual deficit - short stature - wedge shaped epiphyses of knees EXACT Bellini syndrome Rare genetic eye disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101435 Orphanet ID- 14862 Rare intellectual deficit without developmental anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 Orphanet ID- 14865 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Bencze syndrome Hemifacial hyperplasia - strabismus prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 Hemifacial hyperplasia - strabismus Orphanet ID- 1487 OMIM:141350 EXACT Hemifacial hyperplasia - strabismus Genetic cardiac rhythm disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14870 Metabolic liver disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14876 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101940 Pituitary deficiency Pituitary insufficiency NOS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101957 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14893 Genetic chronic primary adrenal insufficiency Orphanet ID- 14896 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101960 Friedreich-like ataxia with selective vitamin E deficiency AVED Familial isolated vitamin E deficiency Isolated vitamin E deficiency ICD10:E56.0 Familial isolated vitamin E deficiency Gene [OrphaNum:120334 ; Name:Tocopherol (alpha) transfer protein ; Symbol:TTPA ; xref: ENSEMBL:ENSG00000137561 ; xref: GENATLAS:TTPA ; xref: HGNC:12404 ; xref: OMIM:600415 ; xref: UNIPROTKB/SWISSPROT:P49638] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 AVED OMIM:277460 Isolated vitamin E deficiency Orphanet ID- 149 ICD10:G11.1 EXACT Familial isolated vitamin E deficiency EXACT Isolated vitamin E deficiency EXACT AVED Maxillo-nasal dysplasia Binder syndrome Maxillo-nasal dysostosis OMIM:155050 Binder syndrome Maxillo-nasal dysostosis Orphanet ID- 1490 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Multigenic/multifactorial; ICD10:Q75.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 EXACT Maxillo-nasal dysostosis EXACT Binder syndrome Combined T and B cell immunodeficiency Orphanet ID- 14908 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101972 Immunodeficiency predominantly affecting antibody production prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101977 Orphanet ID- 14913 Constitutional neutropenia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101987 Orphanet ID- 14923 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Defect in innate immunity Orphanet ID- 14924 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101988 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Immunodeficiency due to a complement cascade protein anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101992 Orphanet ID- 14928 Blepharonasofacial malformation syndrome Pashayan syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 Pashayan syndrome OMIM:110050 Orphanet ID- 1493 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- X-linked dominant; EXACT Pashayan syndrome Primary immunodeficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101997 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14933 Ascher syndrome Blepharochalasia - double lip Orphanet ID- 1494 OMIM:109900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 Blepharochalasia - double lip prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Blepharochalasia - double lip Neurovascular malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14942 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102006 Classic lissencephaly Orphanet ID- 14945 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 Other syndrome with lissencephaly as a major feature Orphanet ID- 14946 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 Lissencephaly type 3 Orphanet ID- 14947 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 Pure familial spastic paraplegia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102012 Orphanet ID- 14948 Complex familial spastic paraplegia Orphanet ID- 14949 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102013 Autosomal dominant limb-girdle muscular dystrophy Orphanet ID- 14950 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102014 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive limb-girdle muscular dystrophy Orphanet ID- 14951 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102015 Autosomal monosomy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102020 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14956 Blepharophimosis - radioulnar synostosis Jorgenson-Lenz syndrome Jorgenson-Lenz syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1256 Orphanet ID- 1496 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Jorgenson-Lenz syndrome Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit Orphanet ID- 14971 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit Orphanet ID- 14972 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102284 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14973 Primary glomerular disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102373 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14975 Blepharoptosis - myopia - ectopia lentis prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:110150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259 Orphanet ID- 1498 Chronic diarrhea due to glucoamylase deficiency Maltase-glucoamylase deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Orphanet ID- 14983 Maltase-glucoamylase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 EXACT Maltase-glucoamylase deficiency Congenital sodium diarrhea Na-H exchange deficiency Gene [OrphaNum:178801 ; Name:Serine peptidase inhibitor, Kunitz type, 2 ; Symbol:SPINT2 ; xref: GENATLAS:SPINT2 ; xref: HGNC:11247 ; xref: OMIM:605124 ; xref: UNIPROTKB/SWISSPROT:O43291 ; xref: ENSEMBL:ENSG00000167642] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 Na-H exchange deficiency Orphanet ID- 14984 OMIM:270420 EXACT Na-H exchange deficiency Diarrhea-vomiting due to trehalase deficiency Isolated trehalose intolerance OMIM:612119 Gene [OrphaNum:158077 ; Name:Trehalase (brush-border membrane glycoprotein) ; Symbol:TREH ; xref: GENATLAS:TREH ; xref: HGNC:12266 ; xref: OMIM:275360 ; xref: UNIPROTKB/SWISSPROT:O43280 ; xref: REACTOME:O43280 ; xref: ENSEMBL:ENSG00000118094] Orphanet ID- 14985 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:E74.3 Isolated trehalose intolerance EXACT Isolated trehalose intolerance Congenital enterocyte heparan sulfate deficiency Orphanet ID- 14986 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Epithelio-exfoliative colitis - deafness Orphanet ID- 14987 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103912 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Autoimmune enteropathy type 2 Orphanet ID- 14989 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103916 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94694 A rare autoimmune disorder that usually affects children. It is associated with the presence of circulating autoantibodies against the gut epithelial cells. It is manifested with malabsorption syndrome. prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Bonnemann-Meinecke-Reich syndrome Encephalopathy - intracerebral calcification - retinal degeneration ICD10:G31.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Encephalopathy - intracerebral calcification - retinal degeneration OMIM:225755 Orphanet ID- 1499 EXACT Encephalopathy - intracerebral calcification - retinal degeneration Autoimmune enteropathy type 3 Orphanet ID- 14990 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103917 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital intestinal transport defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14994 Intestinal disease due to vitamin absorption anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14995 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004 Intestinal disease due to fat malabsorption Orphanet ID- 14996 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104005 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital intestinal disease due to an enzymatic defect prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 14997 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006 Congenital enteropathy involving intestinal mucosa development prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 Orphanet ID- 14998 Short bowel syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104008 Orphanet ID- 14999 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Glycogen debranching enzyme deficiency Amylo-1,6-glucosidase deficiency Cori disease Cori-Forbes disease Forbe disease GDE deficiency GSD type 3 GSD type III GSDIII Glycogen storage disease type 3 Limit dextrinosis Type 3 glycogenosis GSD type 3 GSDIII Cori-Forbes disease prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Amylo-1,6-glucosidase deficiency Orphanet ID- 15 GSD type III GDE deficiency ICD10:E74.0 Forbe disease OMIM:232400 Cori disease Type 3 glycogenosis Gene [OrphaNum:119523 ; Name:Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) ; Symbol:AGL ; xref: ENSEMBL:ENSG00000162688 ; xref: GENATLAS:AGL ; xref: HGNC:321 ; xref: OMIM:610860 ; xref: UNIPROTKB/SWISSPROT:P35573 ; xref: REACTOME:P35573] Glycogen storage disease type 3 Limit dextrinosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 EXACT Cori disease EXACT Amylo-1,6-glucosidase deficiency EXACT Limit dextrinosis EXACT GDE deficiency EXACT GSD type 3 EXACT Type 3 glycogenosis EXACT Forbe disease EXACT Cori-Forbes disease EXACT Glycogen storage disease type 3 EXACT GSDIII EXACT GSD type III Dentatorubral-pallidoluysian atrophy DRPLA Dentatorubropallidoluysian atrophy Naito-Oyanagi disease ICD10:G11 DRPLA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 OMIM:125370 Orphanet ID- 150 Gene [OrphaNum:121482 ; Name:Atrophin 1 ; Symbol:ATN1 ; xref: GENATLAS:ATN1 ; xref: HGNC:3033 ; xref: OMIM:607462 ; xref: UNIPROTKB/SWISSPROT:P54259 ; xref: ENSEMBL:ENSG00000111676] Dentatorubropallidoluysian atrophy Naito-Oyanagi disease prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT DRPLA EXACT Dentatorubropallidoluysian atrophy EXACT Naito-Oyanagi disease Book syndrome OMIM:112300 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262 Congenital intestinal motility disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 Intestinal polyposis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 Orphanet ID- 15001 Metabolic disease with intestinal involvement Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15004 Myopathic intestinal pseudoobstruction Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15007 Unclassified intestinal pseudoobstruction prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15008 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 Boomerang dysplasia ICD10:Q87.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 Orphanet ID- 1501 Gene [OrphaNum:121860 ; Name:Filamin B, beta (actin binding protein 278) ; Symbol:FLNB ; xref: GENATLAS:FLNB ; xref: HGNC:3755 ; xref: OMIM:603381 ; xref: UNIPROTKB/SWISSPROT:O75369 ; xref: ENSEMBL:ENSG00000136068 ; xref: REACTOME:O75369] OMIM:112310 Nonsyndromic esophageal malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108959 Orphanet ID- 15011 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic esophageal malformation Orphanet ID- 15012 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961 Nonsyndromic gastroduodenal malformation Orphanet ID- 15013 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108963 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic gastroduodenal malformation Orphanet ID- 15014 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108965 Nonsyndromic intestinal malformation Orphanet ID- 15015 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967 Syndromic intestinal malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969 Orphanet ID- 15016 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Nonsyndromic visceral malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15017 Syndromic visceral malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108973 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15018 Borjeson-Forssman-Lehmann syndrome Mental deficiency - epilepsy - endocrine disorders Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 Orphanet ID- 1502 Gene [OrphaNum:117602 ; Name:PHD finger protein 6 ; Symbol:PHF6 ; xref: GENATLAS:PHF6 ; xref: HGNC:18145 ; xref: OMIM:300414 ; xref: UNIPROTKB/SWISSPROT:Q8IWS0 ; xref: ENSEMBL:ENSG00000156531] ICD10:Q87.8 Mental deficiency - epilepsy - endocrine disorders OMIM:301900 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Mental deficiency - epilepsy - endocrine disorders External or internal nonsyndromic genital malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108981 Orphanet ID- 15022 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; External or internal syndromic genital malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108983 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15023 Nonsyndromic developmental defect of the eye Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108985 Orphanet ID- 15024 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic developmental defect of the eye Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108987 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15025 Nonsyndromic respiratory or mediastinal malformation Orphanet ID- 15028 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993 Tricho-retino-dento-digital syndrome Bork syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:191482 Orphanet ID- 1503 Bork syndrome ICD10:Q82.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 EXACT Bork syndrome Arthrogryposis syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109007 Orphanet ID- 15035 Syndrome with limb malformations as a major feature Orphanet ID- 15036 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009 Nonsyndromic limb malformation Orphanet ID- 15037 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109011 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Dermato-cardio-skeletal syndrome, Borrone type ICD10:Q87.8 Orphanet ID- 1504 OMIM:211170 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1266 Syndromic anorectal malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 15041 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573 Bowen-Conradi syndrome Bowen syndrome, Hutterite type Orphanet ID- 1506 Bowen syndrome, Hutterite type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 OMIM:211180 ICD10:Q02 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:201553 ; Name:EMG1 nucleolar protein homolog (S. cerevisiae) ; Symbol:EMG1 ; xref: ENSEMBL:ENSG00000126749 ; xref: GENATLAS:EMG1 ; xref: HGNC:16912 ; xref: OMIM:611531 ; xref: UNIPROTKB/SWISSPROT:Q92979] EXACT Bowen syndrome, Hutterite type Rubinstein-Taybi syndrome 16p13.3 deletion syndrome OMIM:610543 Gene [OrphaNum:120814 ; Name:CREB binding protein (Rubinstein-Taybi syndrome) ; Symbol:CREBBP ; xref: ENSEMBL:ENSG00000005339 ; xref: REACTOME:Q92793 ; xref: GENATLAS:CREBBP ; xref: HGNC:2348 ; xref: OMIM:600140 ; xref: UNIPROTKB/SWISSPROT:Q92793] Gene [OrphaNum:121560 ; Name:E1A binding protein p300 ; Symbol:EP300 ; xref: HGNC:3373 ; xref: OMIM:602700 ; xref: UNIPROTKB/SWISSPROT:Q09472 ; xref: ENSEMBL:ENSG00000100393 ; xref: REACTOME:Q09472 ; xref: GENATLAS:EP300] 16p13.3 deletion syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.2 OMIM:613684 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 OMIM:180849 Orphanet ID- 151 EXACT 16p13.3 deletion syndrome Brachydactyly - elbow wrist dysplasia Orphanet ID- 1510 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 OMIM:186550 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Brachydactyly - arterial hypertension OMIM:112410 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1511 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 ICD10:I10 Brachydactyly - preaxial hallux varus Orphanet ID- 1512 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:112450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 Brachymorphism - onychodysplasia - dysphalangism BOD syndrome Senior syndrome Orphanet ID- 1525 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:Q68.1 BOD syndrome Senior syndrome OMIM:113477 EXACT Senior syndrome EXACT BOD syndrome Brachyolmia prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:Q76.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293 Orphanet ID- 1526 Brachytelephalangy - dysmorphism - Kallmann syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:113480 Orphanet ID- 1528 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 Lambert syndrome Branchial dysplasia - intellectual deficit - inguinal hernia OMIM:245550 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 Branchial dysplasia - intellectual deficit - inguinal hernia Orphanet ID- 1529 ICD10:Q87.8 EXACT Branchial dysplasia - intellectual deficit - inguinal hernia Branchio-oculo-facial syndrome BOFS OMIM:113620 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 BOFS ICD10:Q18.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 1530 Gene [OrphaNum:159950 ; Name:Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) ; Symbol:TFAP2A ; xref: ENSEMBL:ENSG00000137203 ; xref: GENATLAS:TFAP2A ; xref: HGNC:11742 ; xref: OMIM:107580 ; xref: UNIPROTKB/SWISSPROT:P05549] EXACT BOFS Branchio-skeleto-genital syndrome Orphanet ID- 1533 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 OMIM:211380 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; Autosomal dominant popliteal pterygium syndrome Facio-genito-popliteal syndrome Popliteal web syndrome Orphanet ID- 1534 OMIM:119500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 ICD10:Q87.2 Popliteal web syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Facio-genito-popliteal syndrome Gene [OrphaNum:122684 ; Name:Interferon regulatory factor 6 ; Symbol:IRF6 ; xref: REACTOME:O14896 ; xref: GENATLAS:IRF6 ; xref: HGNC:6121 ; xref: OMIM:607199 ; xref: UNIPROTKB/SWISSPROT:O14896 ; xref: ENSEMBL:ENSG00000117595] ICD10:Q68.2 EXACT Facio-genito-popliteal syndrome EXACT Popliteal web syndrome Feingold syndrome Brunner-Winter syndrome Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum MMT MODED syndrome Microcephaly - intellectual deficit - tracheoesophageal fistula Microcephaly - oculo-digito-esophageal-duodenal syndrome ODED syndrome Oculo-digito-esophageal-duodenal syndrome OMIM:614326 Brunner-Winter syndrome MODED syndrome Oculo-digito-esophageal-duodenal syndrome Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Gene [OrphaNum:123600 ; Name:V-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) ; Symbol:MYCN ; xref: GENATLAS:MYCN ; xref: HGNC:7559 ; xref: OMIM:164840 ; xref: UNIPROTKB/SWISSPROT:P04198 ; xref: ENSEMBL:ENSG00000134323] MMT Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 ICD10:Q87.8 Gene [OrphaNum:285348 ; Name:miR-17-92 Cluster Host Gene (non-protein coding) ; Symbol:MIR17HG ; xref: GENATLAS:MIR17HG ; xref: HGNC:23564 ; xref: UNIPROTKB/SWISSPROT:Q75NE6 ; xref: OMIM:609415 ; xref: ENSEMBL:ENSG00000215417] Microcephaly - oculo-digito-esophageal-duodenal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Microcephaly - intellectual deficit - tracheoesophageal fistula Orphanet ID- 1536 OMIM:164280 ODED syndrome EXACT Microcephaly - intellectual deficit - tracheoesophageal fistula EXACT Brunner-Winter syndrome EXACT MODED syndrome EXACT Microcephaly - oculo-digito-esophageal-duodenal syndrome EXACT MMT EXACT Oculo-digito-esophageal-duodenal syndrome EXACT ODED syndrome EXACT Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Distal limb deficiencies - micrognathia syndrome 10q24 microduplication syndrome Buttiens-Fryns syndrome 10q24 microduplication syndrome OMIM:246560 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1537 Buttiens-Fryns syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 ICD10:Q92.3 EXACT 10q24 microduplication syndrome EXACT Buttiens-Fryns syndrome Campomelia, Cumming type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 OMIM:211890 Orphanet ID- 1542 Camptobrachydactyly prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:114150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319 ICD10:Q68.1 Orphanet ID- 1543 Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia Goodman camptodactyly OMIM:211930 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Goodman camptodactyly ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 Orphanet ID- 1544 EXACT Goodman camptodactyly Camptodactyly - joint contractures - facial skeletal defects Rozin-Hertz-Goodman syndrome Rozin-camptodactyly syndrome Rozin-Hertz-Goodman syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rozin-camptodactyly syndrome OMIM:602612 Orphanet ID- 1546 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 EXACT Rozin-camptodactyly syndrome EXACT Rozin-Hertz-Goodman syndrome Camptodactyly syndrome, Guadalajara type 2 ICD10:Q79.8 Orphanet ID- 1549 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:211920 X-linked retinoschisis X-linked juvenile retinoschisis XLRS XLRS X-linked juvenile retinoschisis OMIM:268080 ICD10:Q14.1 Orphanet ID- 155 OMIM:312700 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked recessive; Gene [OrphaNum:118411 ; Name:Retinoschisis (X-linked, juvenile) 1 ; Symbol:RS1 ; xref: GENATLAS:RS1 ; xref: HGNC:10457 ; xref: UNIPROTKB/SWISSPROT:O15537 ; xref: OMIM:300839 ; xref: ENSEMBL:ENSG00000102104] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 EXACT XLRS EXACT X-linked juvenile retinoschisis Camptodactyly syndrome, Guadalajara type 1 OMIM:211910 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327 Orphanet ID- 1550 ICD10:Q74.0 Camurati-Engelmann disease Progressive diaphyseal dysplasia Progressive diaphyseal dysplasia OMIM:606631 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 ICD10:Q78.3 Gene [OrphaNum:120047 ; Name:Transforming growth factor, beta 1 ; Symbol:TGFB1 ; xref: GENATLAS:TGFB1 ; xref: HGNC:11766 ; xref: OMIM:190180 ; xref: UNIPROTKB/SWISSPROT:P01137 ; xref: REACTOME:P01137 ; xref: ENSEMBL:ENSG00000105329] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:131300 Orphanet ID- 1551 EXACT Progressive diaphyseal dysplasia Persistent Mullerian duct syndrome PMDS Persistent Mullerian derivatives Persistent Mullerian derivatives Orphanet ID- 1553 ICD10:Q55.8 OMIM:261550 PMDS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 Gene [OrphaNum:119660 ; Name:Anti-Mullerian hormone receptor, type II ; Symbol:AMHR2 ; xref: GENATLAS:AMHR2 ; xref: HGNC:465 ; xref: OMIM:600956 ; xref: UNIPROTKB/SWISSPROT:Q16671 ; xref: ENSEMBL:ENSG00000135409] Gene [OrphaNum:119657 ; Name:Anti-Mullerian hormone ; Symbol:AMH ; xref: GENATLAS:AMH ; xref: HGNC:464 ; xref: OMIM:600957 ; xref: UNIPROTKB/SWISSPROT:P03971 ; xref: ENSEMBL:ENSG00000104899] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; EXACT Persistent Mullerian derivatives EXACT PMDS Cantrell pentalogy Thoraco-abdominal syndrome Thoraco-abdominal syndrome ICD10:Q89.7 Orphanet ID- 1554 OMIM:313850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Inheritance- X-linked recessive; EXACT Thoraco-abdominal syndrome Hyperkeratosis - hyperpigmentation syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:144190 ICD10:Q82.8 ICD10:L81.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 Orphanet ID- 1555 Heart defect - tongue hamartoma - polysyndactyly Ostravik-Lindemann-Solberg syndrome OMIM:217085 Orphanet ID- 1557 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338 Ostravik-Lindemann-Solberg syndrome EXACT Ostravik-Lindemann-Solberg syndrome Cranioacrofacial syndrome Grosse syndrome OMIM:122850 Orphanet ID- 1558 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1339 Grosse syndrome EXACT Grosse syndrome Cardiofaciocutaneous syndrome CFC syndrome Orphanet ID- 1559 ICD10:Q87.8 Gene [OrphaNum:122879 ; Name:V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog ; Symbol:KRAS ; xref: GENATLAS:KRAS ; xref: HGNC:6407 ; xref: OMIM:190070 ; xref: UNIPROTKB/SWISSPROT:P01116 ; xref: ENSEMBL:ENSG00000133703 ; xref: REACTOME:P01116] CFC syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 Gene [OrphaNum:123135 ; Name:Mitogen-activated protein kinase kinase 1 ; Symbol:MAP2K1 ; xref: REACTOME:Q02750 ; xref: GENATLAS:MAP2K1 ; xref: HGNC:6840 ; xref: OMIM:176872 ; xref: UNIPROTKB/SWISSPROT:Q02750 ; xref: ENSEMBL:ENSG00000169032] Gene [OrphaNum:123140 ; Name:Mitogen-activated protein kinase kinase 2 ; Symbol:MAP2K2 ; xref: GENATLAS:MAP2K2 ; xref: HGNC:6842 ; xref: OMIM:601263 ; xref: UNIPROTKB/SWISSPROT:P36507 ; xref: REACTOME:P36507 ; xref: ENSEMBL:ENSG00000126934] OMIM:115150 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Gene [OrphaNum:119066 ; Name:V-raf murine sarcoma viral oncogene homolog B1 ; Symbol:BRAF ; xref: GENATLAS:BRAF ; xref: HGNC:1097 ; xref: OMIM:164757 ; xref: UNIPROTKB/SWISSPROT:P15056 ; xref: REACTOME:P15056 ; xref: ENSEMBL:ENSG00000157764] EXACT CFC syndrome Heart-hand syndrome type 3 Atriodigital dysplasia type 3 Cardiomelic syndrome type 3 Heart-hand syndrome, Spanish type Heart-limb syndrome type 3 Orphanet ID- 1561 Cardiomelic syndrome type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Heart-limb syndrome type 3 Heart-hand syndrome, Spanish type OMIM:140450 Atriodigital dysplasia type 3 ICD10:Q87.2 EXACT Cardiomelic syndrome type 3 EXACT Heart-hand syndrome, Spanish type EXACT Atriodigital dysplasia type 3 EXACT Heart-limb syndrome type 3 Cardiomyopathy - cataract - hip spine disease Krasnow-Qazi syndrome Orphanet ID- 1563 Krasnow-Qazi syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Krasnow-Qazi syndrome Heart-hand syndrome type 2 Atriodigital dysplasia type 2 Tabatznik syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q87.2 Orphanet ID- 1565 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 Tabatznik syndrome Atriodigital dysplasia type 2 EXACT Tabatznik syndrome EXACT Atriodigital dysplasia type 2 Atrioventricular defect - blepharophimosis -radial defects Houlston-Ironton-Temple syndrome Houlston-Ironton-Temple syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1566 OMIM:600123 EXACT Houlston-Ironton-Temple syndrome Heart defect - round face - congenital developmental delay Sonoda syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Sonoda syndrome OMIM:270460 Orphanet ID- 1567 EXACT Sonoda syndrome Carnosinemia Carnosinase deficiency ICD10:E70.8 OMIM:212200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 Orphanet ID- 1569 Carnosinase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Carnosinase deficiency Gusher syndrome X-linked deafness mixed with perilymph gusher X-linked deafness mixed with perilymphatic gusher X-linked deafness, DFN3 X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss Gene [OrphaNum:117952 ; Name:POU class 3 homeobox 4 ; Symbol:POU3F4 ; xref: HGNC:9217 ; xref: OMIM:300039 ; xref: UNIPROTKB/SWISSPROT:P49335 ; xref: GENATLAS:POU3F4 ; xref: ENSEMBL:ENSG00000196767] X-linked deafness mixed with perilymph gusher X-linked deafness mixed with perilymphatic gusher Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=383 X-linked mixed conductive and sensorineural hearing loss OMIM:304400 X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and sensorineural deafness X-linked deafness, DFN3 Orphanet ID- 157 ICD10:H90.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; EXACT X-linked mixed conductive and sensorineural deafness EXACT X-linked deafness, DFN3 EXACT X-linked mixed conductive and neurosensory hearing loss EXACT X-linked deafness mixed with perilymphatic gusher EXACT X-linked deafness mixed with perilymph gusher EXACT X-linked mixed conductive and sensorineural hearing loss EXACT X-linked mixed conductive and neurosensory deafness Autosomal recessive palmoplantar keratoderma and congenital alopecia Cataract - alopecia - sclerodactyly PPK-CA, Wallis type Palmoplantar keratoderma and congenital alopecia, Wallis type OMIM:212360 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 Orphanet ID- 1573 PPK-CA, Wallis type prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Palmoplantar keratoderma and congenital alopecia, Wallis type Cataract - alopecia - sclerodactyly EXACT Cataract - alopecia - sclerodactyly EXACT Palmoplantar keratoderma and congenital alopecia, Wallis type EXACT PPK-CA, Wallis type Cataract - ataxia - deafness prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1575 OMIM:212710 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 Cataract - aberrant oral frenula - growth delay Wellesley-Carman-French syndrome Wellesley-Carman-French syndrome OMIM:115645 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1579 EXACT Wellesley-Carman-French syndrome Stargardt disease Fundus flavimaculatus Macular dystrophy with flecks Gene [OrphaNum:159821 ; Name:Prominin 1 ; Symbol:PROM1 ; xref: ENSEMBL:ENSG00000007062 ; xref: GENATLAS:PROM1 ; xref: HGNC:9454 ; xref: OMIM:604365 ; xref: UNIPROTKB/SWISSPROT:O43490] OMIM:248200 Macular dystrophy with flecks ICD10:H35.5 Fundus flavimaculatus OMIM:603786 OMIM:600110 Gene [OrphaNum:117623 ; Name:ATP-binding cassette, sub-family A (ABC1), member 4 ; Symbol:ABCA4 ; xref: GENATLAS:ABCA4 ; xref: HGNC:34 ; xref: OMIM:601691 ; xref: UNIPROTKB/SWISSPROT:P78363 ; xref: REACTOME:P78363 ; xref: ENSEMBL:ENSG00000198691] Orphanet ID- 158 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:121522 ; Name:Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 ; Symbol:ELOVL4 ; xref: UNIPROTKB/SWISSPROT:Q9GZR5 ; xref: GENATLAS:ELOVL4 ; xref: HGNC:14415 ; xref: OMIM:605512 ; xref: REACTOME:Q9GZR5 ; xref: ENSEMBL:ENSG00000118402] EXACT Fundus flavimaculatus EXACT Macular dystrophy with flecks Hereditary hyperferritinemia with congenital cataracts Bonneau-Beaumont syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 Bonneau-Beaumont syndrome OMIM:600886 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q87.8 Orphanet ID- 1580 Gene [OrphaNum:121953 ; Name:Ferritin, light polypeptide ; Symbol:FTL ; xref: GENATLAS:FTL ; xref: HGNC:3999 ; xref: OMIM:134790 ; xref: UNIPROTKB/SWISSPROT:P02792 ; xref: ENSEMBL:ENSG00000087086 ; xref: REACTOME:P02792] EXACT Bonneau-Beaumont syndrome Cataract - hypertrichosis - intellectual deficit CAHMR syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:211770 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 Orphanet ID- 1582 CAHMR syndrome EXACT CAHMR syndrome Congenital cataract - ichthyosis OMIM:212400 Orphanet ID- 1583 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1376 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cataract-microcornea syndrome OMIM:116150 ICD10:Q12.0 Gene [OrphaNum:122118 ; Name:Gap junction protein, alpha 8, 50kDa ; Symbol:GJA8 ; xref: GENATLAS:GJA8 ; xref: HGNC:4281 ; xref: OMIM:600897 ; xref: UNIPROTKB/SWISSPROT:P48165 ; xref: ENSEMBL:ENSG00000121634 ; xref: REACTOME:P48165] Gene [OrphaNum:120849 ; Name:Crystallin, gamma C ; Symbol:CRYGC ; xref: GENATLAS:CRYGC ; xref: HGNC:2410 ; xref: OMIM:123680 ; xref: UNIPROTKB/SWISSPROT:P07315 ; xref: ENSEMBL:ENSG00000163254] Gene [OrphaNum:140567 ; Name:V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) ; Symbol:MAF ; xref: GENATLAS:MAF ; xref: HGNC:6776 ; xref: OMIM:177075 ; xref: UNIPROTKB/SWISSPROT:O75444 ; xref: ENSEMBL:ENSG00000178573] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377 Gene [OrphaNum:120841 ; Name:Crystallin, beta B2 ; Symbol:CRYBB2 ; xref: GENATLAS:CRYBB2 ; xref: HGNC:2398 ; xref: OMIM:123620 ; xref: UNIPROTKB/SWISSPROT:P43320 ; xref: ENSEMBL:ENSG00000244752] Orphanet ID- 1584 Gene [OrphaNum:120839 ; Name:Crystallin, beta A4 ; Symbol:CRYBA4 ; xref: GENATLAS:CRYBA4 ; xref: HGNC:2396 ; xref: OMIM:123631 ; xref: UNIPROTKB/SWISSPROT:P53673 ; xref: ENSEMBL:ENSG00000196431] Gene [OrphaNum:123359 ; Name:Crystallin, beta B1 ; Symbol:CRYBB1 ; xref: GENATLAS:CRYBB1 ; xref: HGNC:2397 ; xref: OMIM:600929 ; xref: UNIPROTKB/SWISSPROT:P53674 ; xref: ENSEMBL:ENSG00000100122] Gene [OrphaNum:120828 ; Name:Crystallin, alpha A ; Symbol:CRYAA ; xref: UNIPROTKB/SWISSPROT:P02489 ; xref: GENATLAS:CRYAA ; xref: HGNC:2388 ; xref: OMIM:123580 ; xref: ENSEMBL:ENSG00000160202] Gene [OrphaNum:120852 ; Name:Crystallin, gamma D ; Symbol:CRYGD ; xref: GENATLAS:CRYGD ; xref: HGNC:2411 ; xref: OMIM:123690 ; xref: UNIPROTKB/SWISSPROT:P07320 ; xref: ENSEMBL:ENSG00000118231] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Cataract - nephropathy - encephalopathy Crome syndrome OMIM:218900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380 ICD10:Q87.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Crome syndrome Orphanet ID- 1587 EXACT Crome syndrome Cataract - intellectual deficit - anal atresia - urinary defects Karandikar-Maria-Kamble syndrome Karandikar-Maria-Kamble syndrome Orphanet ID- 1588 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 EXACT Karandikar-Maria-Kamble syndrome Cataract - intellectual deficit - hypogonadism Martsolf syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 ICD10:Q87.8 Orphanet ID- 1593 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:212720 Martsolf syndrome Gene [OrphaNum:118200 ; Name:RAB3 GTPase activating protein subunit 2 (non-catalytic) ; Symbol:RAB3GAP2 ; xref: GENATLAS:RAB3GAP2 ; xref: HGNC:17168 ; xref: OMIM:609275 ; xref: UNIPROTKB/SWISSPROT:Q9H2M9 ; xref: ENSEMBL:ENSG00000118873] EXACT Martsolf syndrome Catel-Manzke syndrome Palatodigital syndrome, type Catel-Manzke Pierre robin sequence - hyperphalangy - clinodactyly Pierre robin syndrome - hyperphalangy - clinodactyly Orphanet ID- 1594 Pierre robin syndrome - hyperphalangy - clinodactyly prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 ICD10:Q87.8 Pierre robin sequence - hyperphalangy - clinodactyly OMIM:302380 Palatodigital syndrome, type Catel-Manzke EXACT Pierre robin syndrome - hyperphalangy - clinodactyly EXACT Pierre robin sequence - hyperphalangy - clinodactyly EXACT Palatodigital syndrome, type Catel-Manzke Cortical blindness - intellectual deficit - polydactyly Orphanet ID- 1595 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 OMIM:218010 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Night blindness - skeletal anomalies - dysmorphism Hunter-Thompson-Reed syndrome Hunter-Thompson-Reed syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1596 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390 EXACT Hunter-Thompson-Reed syndrome Cerebro-costo-mandibular syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Orphanet ID- 1599 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 OMIM:117650 ICD10:Q87.8 Glycogen branching enzyme deficiency Amylopectinosis Andersen disease GSD type 4 Glycogen storage disease type 4 Type 4 glycogenosis Type 4 glycogenosis prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; GSD type 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 Glycogen storage disease type 4 Andersen disease Orphanet ID- 16 Gene [OrphaNum:122043 ; Name:Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) ; Symbol:GBE1 ; xref: GENATLAS:GBE1 ; xref: HGNC:4180 ; xref: OMIM:607839 ; xref: UNIPROTKB/SWISSPROT:Q04446 ; xref: REACTOME:Q04446 ; xref: ENSEMBL:ENSG00000114480] ICD10:E74.0 OMIM:232500 Amylopectinosis EXACT Andersen disease EXACT Amylopectinosis EXACT GSD type 4 EXACT Glycogen storage disease type 4 EXACT Type 4 glycogenosis Hypophosphatemic rickets prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 160 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 Cerebro-facio-thoracic dysplasia Pascual-Castroviejo syndrome type 1 OMIM:213980 Pascual-Castroviejo syndrome type 1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 Orphanet ID- 1600 EXACT Pascual-Castroviejo syndrome type 1 Cerebro-reno-digital syndrome ICD10:Q87.8 OMIM:609345 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1603 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1396 Cerebellum agenesis - hydrocephaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 1604 ICD10:Q04.3 OMIM:307010 Richards-Rundle syndrome Ketoaciduria - intellectual deficit - ataxia - deafness Orphanet ID- 1606 OMIM:245100 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G60.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 Ketoaciduria - intellectual deficit - ataxia - deafness EXACT Ketoaciduria - intellectual deficit - ataxia - deafness CHAND syndrome Baughman syndrome CHANDS Curly hair - ankyloblepharon - nail dysplasia syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 Baughman syndrome ICD10:Q82.4 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; CHANDS Curly hair - ankyloblepharon - nail dysplasia syndrome OMIM:214350 Orphanet ID- 1607 EXACT CHANDS EXACT Curly hair - ankyloblepharon - nail dysplasia syndrome EXACT Baughman syndrome Hair defect - photosensitivity - intellectual deficit Calderon-Gonzalez Cantu syndrome OMIM:234030 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1608 Calderon-Gonzalez Cantu syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1408 EXACT Calderon-Gonzalez Cantu syndrome Woolly hair - hypotrichosis - everted lower lip - outstanding ears Salamon syndrome Wooly hair - hypotrichosis - everted lower lip - outstanding ears Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1409 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 1609 OMIM:278200 Salamon syndrome Wooly hair - hypotrichosis - everted lower lip - outstanding ears EXACT Salamon syndrome EXACT Wooly hair - hypotrichosis - everted lower lip - outstanding ears Hypochondroplasia Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] ICD10:Q77.4 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 Orphanet ID- 161 OMIM:146000 Uncombable hair syndrome Pili trianguli et canaliculi prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 OMIM:191480 ICD10:Q84.1 Orphanet ID- 1610 Pili trianguli et canaliculi EXACT Pili trianguli et canaliculi Tarsal-carpal coalition syndrome OMIM:186400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 Orphanet ID- 1612 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:123854 ; Name:Noggin ; Symbol:NOG ; xref: GENATLAS:NOG ; xref: HGNC:7866 ; xref: OMIM:602991 ; xref: UNIPROTKB/SWISSPROT:Q13253 ; xref: ENSEMBL:ENSG00000183691 ; xref: REACTOME:Q13253] OMIM:186570 Familial articular chondrocalcinosis CPPD CPPDD Calcium pyrophosphate deposition disease Calcium pyrophosphate dihydrate crystal deposition disease Orphanet ID- 1614 OMIM:118600 ICD10:M11.1 Calcium pyrophosphate dihydrate crystal deposition disease OMIM:600668 Calcium pyrophosphate deposition disease Gene [OrphaNum:121363 ; Name:Ankylosis, progressive homolog (mouse) ; Symbol:ANKH ; xref: GENATLAS:ANKH ; xref: HGNC:15492 ; xref: OMIM:605145 ; xref: UNIPROTKB/SWISSPROT:Q9HCJ1 ; xref: ENSEMBL:ENSG00000154122] CPPDD prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 CPPD EXACT CPPDD EXACT Calcium pyrophosphate dihydrate crystal deposition disease EXACT Calcium pyrophosphate deposition disease EXACT CPPD Lethal chondrodysplasia, Moerman type Moerman-Vandenberghe-Fryns syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1420 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1617 Moerman-Vandenberghe-Fryns syndrome EXACT Moerman-Vandenberghe-Fryns syndrome Lethal chondrodysplasia, Seller type Orphanet ID- 1618 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1421 OMIM:601376 Hypophosphatasia HPP Phosphoethanolaminuria Rathburn disease Phosphoethanolaminuria OMIM:146300 OMIM:241510 HPP Rathburn disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:E83.3 OMIM:241500 Orphanet ID- 162 EXACT Phosphoethanolaminuria EXACT Rathburn disease EXACT HPP Metaphyseal chondrodysplasia, Schmid type prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:156500 Gene [OrphaNum:120688 ; Name:Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia) ; Symbol:COL10A1 ; xref: GENATLAS:COL10A1 ; xref: HGNC:2185 ; xref: OMIM:120110 ; xref: UNIPROTKB/SWISSPROT:Q03692 ; xref: ENSEMBL:ENSG00000123500] ICD10:Q78.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 Orphanet ID- 1624 Desbuquois syndrome Desbuquois dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 Desbuquois dysplasia Gene [OrphaNum:218036 ; Name:Calcium activated nucleotidase 1 ; Symbol:CANT1 ; xref: ENSEMBL:ENSG00000171302 ; xref: HGNC:19721 ; xref: GENATLAS:CANT1 ; xref: OMIM:613165 ; xref: UNIPROTKB/SWISSPROT:Q8WVQ1] Orphanet ID- 1631 ICD10:Q78.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:251450 EXACT Desbuquois dysplasia Greenberg dysplasia Hydrops - ectopic calcification - motheaten Skeletal dysplasia, Greenberg type Skeletal dysplasia, Greenberg type OMIM:215140 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 Orphanet ID- 1632 ICD10:Q77.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123003 ; Name:Lamin B receptor ; Symbol:LBR ; xref: GENATLAS:LBR ; xref: HGNC:6518 ; xref: OMIM:600024 ; xref: UNIPROTKB/SWISSPROT:Q14739 ; xref: ENSEMBL:ENSG00000143815 ; xref: REACTOME:Q14739] Hydrops - ectopic calcification - motheaten EXACT Hydrops - ectopic calcification - motheaten EXACT Skeletal dysplasia, Greenberg type Otospondylomegaepiphyseal dysplasia OSMED ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 OMIM:215150 Orphanet ID- 1633 OSMED Gene [OrphaNum:120693 ; Name:Collagen, type XI, alpha 2 ; Symbol:COL11A2 ; xref: GENATLAS:COL11A2 ; xref: HGNC:2187 ; xref: OMIM:120290 ; xref: UNIPROTKB/SWISSPROT:P13942 ; xref: ENSEMBL:ENSG00000204248] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] EXACT OSMED Benign familial chorea Hereditary benign chorea prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:118700 Hereditary benign chorea OMIM:215450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 Gene [OrphaNum:156077 ; Name:NK2 homeobox 1 ; Symbol:NKX2-1 ; xref: ENSEMBL:ENSG00000136352 ; xref: HGNC:11825 ; xref: OMIM:600635 ; xref: UNIPROTKB/SWISSPROT:P43699 ; xref: GENATLAS:NKX2-1] ICD10:G25.5 Orphanet ID- 1634 EXACT Hereditary benign chorea Choroidal atrophy - alopecia Moloney syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 Moloney syndrome Orphanet ID- 1637 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; EXACT Moloney syndrome Choroideremia - deafness - obesity Ayazi syndrome Ayazi syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 Orphanet ID- 1638 OMIM:303110 EXACT Ayazi syndrome Skeletal dysplasia - intellectual deficit Christian syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 Christian syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:309620 Orphanet ID- 1639 EXACT Christian syndrome Hydrocephalus with stenosis of aqueduct of Sylvius Bickers-Adams syndrome OMIM:236635 ICD10:Q03.0 Gene [OrphaNum:122948 ; Name:L1 cell adhesion molecule ; Symbol:L1CAM ; xref: GENATLAS:L1CAM ; xref: HGNC:6470 ; xref: OMIM:308840 ; xref: UNIPROTKB/SWISSPROT:P32004 ; xref: ENSEMBL:ENSG00000198910 ; xref: REACTOME:P32004] Bickers-Adams syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 Orphanet ID- 164 OMIM:307000 EXACT Bickers-Adams syndrome Ring chromosome 14 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Sporadic; ICD10:Q93.2 Orphanet ID- 1640 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440 Ring chromosome 19 Orphanet ID- 1641 ICD10:Q93.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443 Ring chromosome 7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449 Orphanet ID- 1642 Cleido rhizomelic syndrome Wallis-Zieff-Goldblatt syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453 Orphanet ID- 1643 Wallis-Zieff-Goldblatt syndrome OMIM:119650 EXACT Wallis-Zieff-Goldblatt syndrome Joubert syndrome with hepatic defect COACH syndrome Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis Gentile syndrome JS-H Joubert syndrome with congenital hepatic fibrosis ICD10:Q04.3 Joubert syndrome with congenital hepatic fibrosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 Orphanet ID- 1644 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:216360 Gene [OrphaNum:120140 ; Name:Transmembrane protein 67 ; Symbol:TMEM67 ; xref: GENATLAS:TMEM67 ; xref: HGNC:28396 ; xref: OMIM:609884 ; xref: UNIPROTKB/SWISSPROT:Q5HYA8 ; xref: ENSEMBL:ENSG00000164953] Gentile syndrome Gene [OrphaNum:140541 ; Name:RPGRIP1-like ; Symbol:RPGRIP1L ; xref: UNIPROTKB/SWISSPROT:Q68CZ1 ; xref: GENATLAS:RPGRIP1L ; xref: HGNC:29168 ; xref: OMIM:610937 ; xref: ENSEMBL:ENSG00000103494] JS-H Gene [OrphaNum:159539 ; Name:Coiled-coil and C2 domain containing 2A ; Symbol:CC2D2A ; xref: GENATLAS:CC2D2A ; xref: HGNC:29253 ; xref: OMIM:612013 ; xref: UNIPROTKB/SWISSPROT:Q9P2K1 ; xref: ENSEMBL:ENSG00000048342] ICD10:K74.0 Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis COACH syndrome EXACT Gentile syndrome EXACT Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis EXACT COACH syndrome EXACT JS-H EXACT Joubert syndrome with congenital hepatic fibrosis Coats disease Congenital retinal telangiectasia Leber miliary aneurysm prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 ICD10:H35.0 Orphanet ID- 1645 OMIM:300216 Leber miliary aneurysm Congenital retinal telangiectasia Gene [OrphaNum:123713 ; Name:Norrie disease (pseudoglioma) ; Symbol:NDP ; xref: ENSEMBL:ENSG00000124479 ; xref: GENATLAS:NDP ; xref: HGNC:7678 ; xref: OMIM:310600 ; xref: UNIPROTKB/SWISSPROT:Q00604] EXACT Leber miliary aneurysm EXACT Congenital retinal telangiectasia CODAS syndrome Cerebro-oculo-dento-auriculo-skeletal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 Cerebro-oculo-dento-auriculo-skeletal syndrome Orphanet ID- 1647 OMIM:600373 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Cerebro-oculo-dento-auriculo-skeletal syndrome COFS syndrome Cerebrooculofacioskeletal syndrome Pena-Shokeir syndrome type 2 Orphanet ID- 1649 Gene [OrphaNum:139163 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) ; Symbol:ERCC1 ; xref: GENATLAS:ERCC1 ; xref: HGNC:3433 ; xref: OMIM:126380 ; xref: UNIPROTKB/SWISSPROT:P07992 ; xref: REACTOME:P07992 ; xref: ENSEMBL:ENSG00000012061] OMIM:214150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 Cerebrooculofacioskeletal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; OMIM:610756 ICD10:Q87.1 Pena-Shokeir syndrome type 2 OMIM:610758 Gene [OrphaNum:132271 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 5 ; Symbol:ERCC5 ; xref: GENATLAS:ERCC5 ; xref: HGNC:3437 ; xref: OMIM:133530 ; xref: UNIPROTKB/SWISSPROT:P28715 ; xref: ENSEMBL:ENSG00000134899 ; xref: REACTOME:P28715] Gene [OrphaNum:121599 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 6 ; Symbol:ERCC6 ; xref: GENATLAS:ERCC6 ; xref: HGNC:3438 ; xref: OMIM:609413 ; xref: UNIPROTKB/SWISSPROT:Q03468 ; xref: REACTOME:Q03468 ; xref: ENSEMBL:ENSG00000225830] Gene [OrphaNum:121590 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ; Symbol:ERCC2 ; xref: GENATLAS:ERCC2 ; xref: HGNC:3434 ; xref: OMIM:126340 ; xref: UNIPROTKB/SWISSPROT:P18074 ; xref: REACTOME:P18074 ; xref: ENSEMBL:ENSG00000104884] EXACT Pena-Shokeir syndrome type 2 EXACT Cerebrooculofacioskeletal syndrome Coloboma of macula - brachydactyly type B Sorsby syndrome OMIM:120400 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 1654 Sorsby syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 ICD10:Q87.8 EXACT Sorsby syndrome Contractures - ectodermal dysplasia - cleft lip/palate Ladda-Zonana-Ramer syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 Orphanet ID- 1659 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Ladda-Zonana-Ramer syndrome OMIM:301815 EXACT Ladda-Zonana-Ramer syndrome Lethal congenital contracture syndrome type 1 Herva disease Multiple contracture syndrome, Finnish type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 OMIM:253310 Orphanet ID- 1660 Multiple contracture syndrome, Finnish type Gene [OrphaNum:160257 ; Name:GLE1 RNA export mediator homolog ; Symbol:GLE1 ; xref: ENSEMBL:ENSG00000119392 ; xref: GENATLAS:GLE1 ; xref: HGNC:4315 ; xref: OMIM:603371 ; xref: UNIPROTKB/SWISSPROT:Q53GS7] Herva disease EXACT Herva disease EXACT Multiple contracture syndrome, Finnish type Cooks syndrome Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges ODP Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:Q84.6 ICD10:Q74.8 ODP Orphanet ID- 1662 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 OMIM:106995 EXACT Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges EXACT ODP Corneal dystrophy - perceptive deafness CDPD Corneal dystrophy with progressive deafness Harboyan syndrome ICD10:H18.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:217400 Gene [OrphaNum:119680 ; Name:Solute carrier family 4, sodium bicarbonate transporter-like, member 11 ; Symbol:SLC4A11 ; xref: GENATLAS:SLC4A11 ; xref: HGNC:16438 ; xref: OMIM:610206 ; xref: UNIPROTKB/SWISSPROT:Q8NBS3 ; xref: ENSEMBL:ENSG00000088836] CDPD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 Harboyan syndrome Orphanet ID- 1663 Corneal dystrophy with progressive deafness EXACT Harboyan syndrome EXACT Corneal dystrophy with progressive deafness EXACT CDPD Vici syndrome Corpus callosum agenesis - cataract - immunodeficiency Dionisi-Vici-Sabetta-Gambarara syndrome Orphanet ID- 1665 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Corpus callosum agenesis - cataract - immunodeficiency OMIM:242840 Dionisi-Vici-Sabetta-Gambarara syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 EXACT Corpus callosum agenesis - cataract - immunodeficiency EXACT Dionisi-Vici-Sabetta-Gambarara syndrome Intellectual deficit - hypoplastic corpus callosum - preauricular tag Da Silva syndrome Orphanet ID- 1667 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 Da Silva syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:217990 EXACT Da Silva syndrome X-linked complicated corpus callosum dysgenesis Gene [OrphaNum:122948 ; Name:L1 cell adhesion molecule ; Symbol:L1CAM ; xref: GENATLAS:L1CAM ; xref: HGNC:6470 ; xref: OMIM:308840 ; xref: UNIPROTKB/SWISSPROT:P32004 ; xref: ENSEMBL:ENSG00000198910 ; xref: REACTOME:P32004] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 1668 OMIM:304100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 Legius syndrome NF1-like syndrome Neurofibromatosis 1-like syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:159367 ; Name:Sprouty-related, EVH1 domain containing 1 ; Symbol:SPRED1 ; xref: GENATLAS:SPRED1 ; xref: HGNC:20249 ; xref: OMIM:609291 ; xref: UNIPROTKB/SWISSPROT:Q7Z699 ; xref: ENSEMBL:ENSG00000166068] NF1-like syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 OMIM:611431 Neurofibromatosis 1-like syndrome Orphanet ID- 16684 EXACT Neurofibromatosis 1-like syndrome EXACT NF1-like syndrome Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus SOLAMEN syndrome Orphanet ID- 16690 OMIM:158350 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] SOLAMEN syndrome EXACT SOLAMEN syndrome Intractable diarrhea - choanal atresia - eye anomalies prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 16693 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency GSD type 0b Glycogen storage disease type 0b Type 0b glycogenosis Gene [OrphaNum:160283 ; Name:Glycogen synthase 1 (muscle) ; Symbol:GYS1 ; xref: GENATLAS:GYS1 ; xref: HGNC:4706 ; xref: OMIM:138570 ; xref: UNIPROTKB/SWISSPROT:P13807 ; xref: ENSEMBL:ENSG00000104812 ; xref: REACTOME:P13807] GSD type 0b OMIM:611556 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 Glycogen storage disease type 0b Orphanet ID- 16694 ICD10:E74.0 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Sporadic; Type 0b glycogenosis EXACT Glycogen storage disease type 0b EXACT Type 0b glycogenosis EXACT GSD type 0b Cardiac anomalies - heterotaxy Orphanet ID- 16695 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 Orphanet ID- 16696 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:611926 Overgrowth - macrocephaly - facial dysmorphism RNF135-related overgrowth syndrome OMIM:614192 RNF135-related overgrowth syndrome Orphanet ID- 16697 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 Gene [OrphaNum:140074 ; Name:Ring finger protein 135 ; Symbol:RNF135 ; xref: GENATLAS:RNF135 ; xref: HGNC:21158 ; xref: OMIM:611358 ; xref: UNIPROTKB/SWISSPROT:Q8IUD6 ; xref: ENSEMBL:ENSG00000181481 ; xref: REACTOME:Q8IUD6] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; EXACT RNF135-related overgrowth syndrome Leukoencephalopathy - ataxia - hypodontia - hypomyelination Ataxia - delayed dentition - hypomyelination Ataxia - delayed dentition - hypomyelination Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 Orphanet ID- 16698 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:607694 EXACT Ataxia - delayed dentition - hypomyelination Leber hereditary optic neuropathy LHON Leber optic atrophy Gene [OrphaNum:123547 ; Name:Mitochondrially encoded NADH dehydrogenase 3 ; Symbol:MT-ND3 ; xref: ENSEMBL:ENSG00000198840 ; xref: GENATLAS:MT-ND3 ; xref: HGNC:7458 ; xref: OMIM:516002 ; xref: UNIPROTKB/SWISSPROT:P03897 ; xref: REACTOME:P03897] Gene [OrphaNum:123542 ; Name:Mitochondrially encoded NADH dehydrogenase 2 ; Symbol:MT-ND2 ; xref: ENSEMBL:ENSG00000198763 ; xref: GENATLAS:MT-ND2 ; xref: HGNC:7456 ; xref: OMIM:516001 ; xref: UNIPROTKB/SWISSPROT:P03891 ; xref: REACTOME:P03891] Gene [OrphaNum:123557 ; Name:Mitochondrially encoded NADH dehydrogenase 4L ; Symbol:MT-ND4L ; xref: GENATLAS:MT-ND4L ; xref: HGNC:7460 ; xref: OMIM:516004 ; xref: UNIPROTKB/SWISSPROT:P03901 ; xref: ENSEMBL:ENSG00000212907 ; xref: REACTOME:P03901] OMIM:308905 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 Orphanet ID- 167 ICD10:H47.2 Gene [OrphaNum:123562 ; Name:Mitochondrially encoded NADH dehydrogenase 5 ; Symbol:MT-ND5 ; xref: GENATLAS:MT-ND5 ; xref: HGNC:7461 ; xref: OMIM:516005 ; xref: UNIPROTKB/SWISSPROT:P03915 ; xref: ENSEMBL:ENSG00000198786 ; xref: REACTOME:P03915] Gene [OrphaNum:123512 ; Name:Mitochondrially encoded cytochrome c oxidase I ; Symbol:MT-CO1 ; xref: ENSEMBL:ENSG00000198804 ; xref: REACTOME:P00395 ; xref: GENATLAS:MT-CO1 ; xref: HGNC:7419 ; xref: OMIM:516030 ; xref: UNIPROTKB/SWISSPROT:P00395] OMIM:535000 Gene [OrphaNum:123508 ; Name:Mitochondrially encoded ATP synthase 6 ; Symbol:MT-ATP6 ; xref: GENATLAS:MT-ATP6 ; xref: HGNC:7414 ; xref: OMIM:516060 ; xref: UNIPROTKB/SWISSPROT:P00846 ; xref: ENSEMBL:ENSG00000198899 ; xref: REACTOME:P00846] Gene [OrphaNum:123524 ; Name:Mitochondrially encoded cytochrome b ; Symbol:MT-CYB ; xref: REACTOME:P00156 ; xref: GENATLAS:MT-CYB ; xref: HGNC:7427 ; xref: OMIM:516020 ; xref: UNIPROTKB/SWISSPROT:P00156 ; xref: ENSEMBL:ENSG00000198727] OMIM:500001 Leber optic atrophy prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Mitochondrial inheritance; Gene [OrphaNum:123520 ; Name:Mitochondrially encoded cytochrome c oxidase III ; Symbol:MT-CO3 ; xref: GENATLAS:MT-CO3 ; xref: HGNC:7422 ; xref: OMIM:516050 ; xref: UNIPROTKB/SWISSPROT:P00414 ; xref: ENSEMBL:ENSG00000198938 ; xref: REACTOME:P00414] Gene [OrphaNum:123552 ; Name:Mitochondrially encoded NADH dehydrogenase 4 ; Symbol:MT-ND4 ; xref: ENSEMBL:ENSG00000198886 ; xref: GENATLAS:MT-ND4 ; xref: HGNC:7459 ; xref: OMIM:516003 ; xref: UNIPROTKB/SWISSPROT:P03905 ; xref: REACTOME:P03905] OMIM:165200 Gene [OrphaNum:123567 ; Name:Mitochondrially encoded NADH dehydrogenase 6 ; Symbol:MT-ND6 ; xref: GENATLAS:MT-ND6 ; xref: HGNC:7462 ; xref: OMIM:516006 ; xref: UNIPROTKB/SWISSPROT:P03923 ; xref: ENSEMBL:ENSG00000198695 ; xref: REACTOME:P03923] LHON Gene [OrphaNum:123537 ; Name:Mitochondrially encoded NADH dehydrogenase 1 ; Symbol:MT-ND1 ; xref: ENSEMBL:ENSG00000198888 ; xref: REACTOME:P03886 ; xref: GENATLAS:MT-ND1 ; xref: HGNC:7455 ; xref: OMIM:516000 ; xref: UNIPROTKB/SWISSPROT:P03886] EXACT LHON EXACT Leber optic atrophy Microcephaly - digital anomalies - intellectual deficit Kelly-Kirson-Wyatt syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137653 Orphanet ID- 16700 Kelly-Kirson-Wyatt syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:251255 EXACT Kelly-Kirson-Wyatt syndrome Microcephaly - intellectual deficit - phalangeal and neurological anomalies Woods-Crouchman-Huson syndrome Woods-Crouchman-Huson syndrome Orphanet ID- 16701 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137658 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Woods-Crouchman-Huson syndrome Capillary malformation-arteriovenous malformation CM-AVM Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:118231 ; Name:RAS p21 protein activator (GTPase activating protein) 1 ; Symbol:RASA1 ; xref: GENATLAS:RASA1 ; xref: HGNC:9871 ; xref: OMIM:139150 ; xref: UNIPROTKB/SWISSPROT:P20936 ; xref: ENSEMBL:ENSG00000145715 ; xref: REACTOME:P20936] OMIM:608354 CM-AVM Orphanet ID- 16702 ICD10:Q27.3 EXACT CM-AVM Histiocytoid cardiomyopathy Foamy myocardial transformation of infancy Infantile cardiomyopathy with histiocytoid change Infantile xanthomatous cardiomyopathy Oncocytic cardiomyopathy Oncocytic cardiomyopathy Infantile cardiomyopathy with histiocytoid change Gene [OrphaNum:123524 ; Name:Mitochondrially encoded cytochrome b ; Symbol:MT-CYB ; xref: REACTOME:P00156 ; xref: GENATLAS:MT-CYB ; xref: HGNC:7427 ; xref: OMIM:516020 ; xref: UNIPROTKB/SWISSPROT:P00156 ; xref: ENSEMBL:ENSG00000198727] Orphanet ID- 16704 Infantile xanthomatous cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 Foamy myocardial transformation of infancy OMIM:500000 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:212080 ICD10:I42.0 EXACT Infantile xanthomatous cardiomyopathy EXACT Oncocytic cardiomyopathy EXACT Foamy myocardial transformation of infancy EXACT Infantile cardiomyopathy with histiocytoid change Czech dysplasia, metatarsal type Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] OMIM:609162 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 ICD10:Q77.7 Orphanet ID- 16705 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 Hepatoencephalopathy due to COXPD1 Orphanet ID- 16706 Hepatoencephalopathy due to COXPD1 Gene [OrphaNum:166715 ; Name:G elongation factor, mitochondrial 1 ; Symbol:GFM1 ; xref: GENATLAS:GFM1 ; xref: HGNC:13780 ; xref: OMIM:606639 ; xref: UNIPROTKB/SWISSPROT:Q96RP9 ; xref: ENSEMBL:ENSG00000168827] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609060 EXACT Hepatoencephalopathy due to COXPD1 Idiopathic short stature Short stature of unknown aetiology Gene [OrphaNum:118707 ; Name:Short stature homeobox ; Symbol:SHOX ; xref: GENATLAS:SHOX ; xref: HGNC:10853 ; xref: OMIM:312865 ; xref: UNIPROTKB/SWISSPROT:O15266 ; xref: ENSEMBL:ENSG00000185960] OMIM:604271 Gene [OrphaNum:201252 ; Name:Growth hormone secretagogue receptor ; Symbol:GHSR ; xref: ENSEMBL:ENSG00000121853 ; xref: REACTOME:Q92847 ; xref: IUPHAR:246 ; xref: GENATLAS:GHSR ; xref: HGNC:4267 ; xref: OMIM:601898 ; xref: UNIPROTKB/SWISSPROT:Q92847] ICD10:E34.3 Short stature of unknown aetiology prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:300582 Orphanet ID- 16709 Gene [OrphaNum:122095 ; Name:Growth hormone receptor ; Symbol:GHR ; xref: GENATLAS:GHR ; xref: HGNC:4263 ; xref: OMIM:600946 ; xref: UNIPROTKB/SWISSPROT:P10912 ; xref: ENSEMBL:ENSG00000112964 ; xref: REACTOME:P10912] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137693 EXACT Short stature of unknown aetiology Cote-Katsantoni syndrome Ectodermal dysplasia - osteosclerosis Ectodermal dysplasia - osteosclerosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1502 Orphanet ID- 1671 EXACT Ectodermal dysplasia - osteosclerosis Neurological conditions associated with aminoacylase 1 deficiency ACY1D N-acyl-L-amino acid amidohydrolase deficiency ACY1D Orphanet ID- 16711 N-acyl-L-amino acid amidohydrolase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:159895 ; Name:Aminoacylase 1 ; Symbol:ACY1 ; xref: GENATLAS:ACY1 ; xref: HGNC:177 ; xref: OMIM:104620 ; xref: UNIPROTKB/SWISSPROT:Q03154 ; xref: ENSEMBL:ENSG00000243989] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 OMIM:609924 EXACT ACY1D EXACT N-acyl-L-amino acid amidohydrolase deficiency Metabolic intoxication disease Orphanet ID- 16712 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137763 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Metabolic disease involving complex molecules Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137768 Orphanet ID- 16713 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lethal congenital contracture syndrome type 2 Multiple contracture syndrome, Israeli-Bedouin type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:607598 Orphanet ID- 16715 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 Multiple contracture syndrome, Israeli-Bedouin type Gene [OrphaNum:160236 ; Name:v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 ; Symbol:ERBB3 ; xref: GENATLAS:ERBB3 ; xref: HGNC:3431 ; xref: OMIM:190151 ; xref: UNIPROTKB/SWISSPROT:P21860 ; xref: ENSEMBL:ENSG00000065361 ; xref: REACTOME:P21860] EXACT Multiple contracture syndrome, Israeli-Bedouin type Lethal congenital contracture syndrome type 3 OMIM:611369 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16716 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 Gene [OrphaNum:160322 ; Name:Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma ; Symbol:PIP5K1C ; xref: GENATLAS:PIP5K1C ; xref: HGNC:8996 ; xref: OMIM:606102 ; xref: UNIPROTKB/SWISSPROT:O60331 ; xref: ENSEMBL:ENSG00000186111 ; xref: REACTOME:O60331] Intellectual deficit, X-linked - cerebellar hypoplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 16724 OMIM:300486 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 Gene [OrphaNum:159936 ; Name:Oligophrenin 1 ; Symbol:OPHN1 ; xref: GENATLAS:OPHN1 ; xref: HGNC:8148 ; xref: OMIM:300127 ; xref: UNIPROTKB/SWISSPROT:O60890 ; xref: ENSEMBL:ENSG00000079482 ; xref: REACTOME:O60890] Frank-Ter Haar syndrome Ter Haar syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 OMIM:249420 Orphanet ID- 16725 Gene [OrphaNum:225343 ; Name:SH3 and PX domains 2B ; Symbol:SH3PXD2B ; xref: ENSEMBL:ENSG00000174705 ; xref: GENATLAS:SH3PXD2B ; xref: HGNC:29242 ; xref: OMIM:613293 ; xref: UNIPROTKB/SWISSPROT:A1X283] Ter Haar syndrome EXACT Ter Haar syndrome Madras motor neuron disease MMND Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867 MMND Orphanet ID- 16732 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT MMND Laminopathy type Decaudain-Vigouroux Laminopathy with severe metabolic syndrome and myopathy Orphanet ID- 16733 ICD10:E78.4 ICD10:E13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137871 Laminopathy with severe metabolic syndrome and myopathy Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; EXACT Laminopathy with severe metabolic syndrome and myopathy Auriculo-condylar syndrome Question mark ear syndrome Question mark ear syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 ICD10:Q75.8 Gene [OrphaNum:302920 ; Name:Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 ; Symbol:GNAI3 ; xref: OMIM:139370 ; xref: HGNC:4387 ; xref: GENATLAS:GNAI3 ; xref: UNIPROTKB/SWISSPROT:P08754] OMIM:614669 Orphanet ID- 16737 OMIM:602483 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:302923 ; Name:Phospholipase C, beta 4 ; Symbol:PLCB4 ; xref: HGNC:9059 ; xref: OMIM:600810 ; xref: GENATLAS:PLCB4 ; xref: UNIPROTKB/SWISSPROT:Q15147] EXACT Question mark ear syndrome Male infertility associated with large-headed multiflagellar polyploid spermatozoa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137893 Gene [OrphaNum:160048 ; Name:Aurora kinase C ; Symbol:AURKC ; xref: GENATLAS:AURKC ; xref: HGNC:11391 ; xref: OMIM:603495 ; xref: UNIPROTKB/SWISSPROT:Q9UQB9 ; xref: ENSEMBL:ENSG00000105146] OMIM:243060 Orphanet ID- 16738 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation LBSL prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:611105 LBSL Orphanet ID- 16739 Gene [OrphaNum:158065 ; Name:Aspartyl-tRNA synthetase 2, mitochondrial ; Symbol:DARS2 ; xref: GENATLAS:DARS2 ; xref: HGNC:25538 ; xref: OMIM:610956 ; xref: UNIPROTKB/SWISSPROT:Q6PI48 ; xref: REACTOME:Q6PI48 ; xref: ENSEMBL:ENSG00000117593] ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 EXACT LBSL Autosomal recessive Robinow syndrome COVESDEM syndrome Costovertebral segmentation defect - mesomelia RRS RRS OMIM:268310 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 ICD10:Q87.1 COVESDEM syndrome Costovertebral segmentation defect - mesomelia Gene [OrphaNum:118362 ; Name:Receptor tyrosine kinase-like orphan receptor 2 ; Symbol:ROR2 ; xref: GENATLAS:ROR2 ; xref: HGNC:10257 ; xref: OMIM:602337 ; xref: UNIPROTKB/SWISSPROT:Q01974 ; xref: ENSEMBL:ENSG00000169071] Orphanet ID- 1674 EXACT COVESDEM syndrome EXACT Costovertebral segmentation defect - mesomelia EXACT RRS Isolated optic nerve hypoplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137902 Orphanet ID- 16740 ICD10:H47.0 Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] OMIM:165550 Syndromic optic nerve hypoplasia Orphanet ID- 16741 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905 Hypotonia with lactic acidemia and hyperammonemia COXPD5 Combined oxidative phosphorylation type 5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; COXPD5 Gene [OrphaNum:140069 ; Name:Mitochondrial ribosomal protein S22 ; Symbol:MRPS22 ; xref: GENATLAS:MRPS22 ; xref: HGNC:14508 ; xref: OMIM:605810 ; xref: UNIPROTKB/SWISSPROT:P82650 ; xref: ENSEMBL:ENSG00000175110] OMIM:611719 Orphanet ID- 16742 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 Combined oxidative phosphorylation type 5 EXACT COXPD5 EXACT Combined oxidative phosphorylation type 5 Choanal atresia OMIM:608911 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914 ICD10:Q30.0 prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16744 Unilateral choanal atresia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q30.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917 Orphanet ID- 16745 Bilateral choanal atresia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16746 ICD10:Q30.0 Primary laryngeal lymphangioma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16748 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926 Coxoauricular syndrome ICD10:Q87.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508 OMIM:122780 Orphanet ID- 1675 Congenital laryngeal palsy Congenital vocal cord paralysis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:J38.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 Congenital vocal cord paralysis Orphanet ID- 16750 EXACT Congenital vocal cord paralysis Laryngotracheal angioma ICD10:D18.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 Orphanet ID- 16751 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pierre Robin syndrome associated with collagen disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16759 Coxo-podo-patellar syndrome Ischiopatellar dysplasia SPS Scott-Taor syndrome Small patella syndrome OMIM:147891 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509 Ischiopatellar dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:119966 ; Name:T-box 4 ; Symbol:TBX4 ; xref: GENATLAS:TBX4 ; xref: HGNC:11603 ; xref: OMIM:601719 ; xref: UNIPROTKB/SWISSPROT:P57082 ; xref: ENSEMBL:ENSG00000121075] ICD10:Q74.1 Orphanet ID- 1676 SPS Small patella syndrome Scott-Taor syndrome EXACT Small patella syndrome EXACT Ischiopatellar dysplasia EXACT SPS EXACT Scott-Taor syndrome Syndromic Pierre Robin sequence prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16760 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044 Pierre Robin syndrome associated with a chromosomal anomaly Orphanet ID- 16761 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047 Pierre Robin syndrome associated with branchial archs anomalies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050 Orphanet ID- 16762 Pierre Robin syndrome associated with bone disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16763 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055 Teratogenic Pierre Robin syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059 Orphanet ID- 16764 Syndrome associated with Pierre Robin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138063 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16765 Pierre Robin syndrome associated with miscellaneous anomalies Orphanet ID- 16766 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138066 Crane-Heise syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1679 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 OMIM:218090 Ornithine transcarbamylase deficiency OCT deficiency OTC deficency Ornithine carbamoyltransferase deficiency OMIM:311250 Ornithine carbamoyltransferase deficiency OCT deficiency OTC deficency prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 Orphanet ID- 168 ICD10:E72.2 Gene [OrphaNum:124033 ; Name:Ornithine carbamoyltransferase ; Symbol:OTC ; xref: REACTOME:P00480 ; xref: ENSEMBL:ENSG00000036473 ; xref: GENATLAS:OTC ; xref: HGNC:8512 ; xref: OMIM:300461 ; xref: UNIPROTKB/SWISSPROT:P00480] EXACT OTC deficency EXACT Ornithine carbamoyltransferase deficiency EXACT OCT deficiency Craniodiaphyseal dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 Gene [OrphaNum:123431 ; Name:Sclerosteosis gene ; Symbol:SOST ; xref: GENATLAS:SOST ; xref: HGNC:13771 ; xref: OMIM:605740 ; xref: UNIPROTKB/SWISSPROT:Q9BQB4 ; xref: ENSEMBL:ENSG00000167941] ICD10:Q87.5 OMIM:122860 Orphanet ID- 1680 OMIM:218300 Craniodigital syndrome - intellectual deficit Scott craniodigital syndrome Scott-Bryant-Graham syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Orphanet ID- 1681 Scott craniodigital syndrome Scott-Bryant-Graham syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514 OMIM:312860 EXACT Scott-Bryant-Graham syndrome EXACT Scott craniodigital syndrome Cranioectodermal dysplasia CED Sensenbrenner syndrome Gene [OrphaNum:285468 ; Name:WD Repeat domain 19 ; Symbol:WDR19 ; xref: ENSEMBL:ENSG00000157796 ; xref: OMIM:608151 ; xref: UNIPROTKB/SWISSPROT:Q8NEZ3 ; xref: GENATLAS:WDR19 ; xref: HGNC:18340] OMIM:218330 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 1682 OMIM:614099 Gene [OrphaNum:235207 ; Name:Intraflagellar transport 122 homolog (Chlamydomonas) ; Symbol:IFT122 ; xref: ENSEMBL:ENSG00000163913 ; xref: GENATLAS:IFT122 ; xref: HGNC:13556 ; xref: OMIM:606045 ; xref: UNIPROTKB/SWISSPROT:Q9HBG6] CED OMIM:614378 Gene [OrphaNum:239955 ; Name:WD repeat domain 35 ; Symbol:WDR35 ; xref: OMIM:613602 ; xref: GENATLAS:WDR35 ; xref: HGNC:29250 ; xref: UNIPROTKB/SWISSPROT:Q9P2L0 ; xref: ENSEMBL:ENSG00000118965] Sensenbrenner syndrome Gene [OrphaNum:270002 ; Name:intraflagellar transport 43 homolog (Chlamydomonas) ; Symbol:IFT43 ; xref: ENSEMBL:ENSG00000119650 ; xref: HGNC:29669 ; xref: OMIM:614068 ; xref: UNIPROTKB/SWISSPROT:Q96FT9] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 ICD10:Q87.5 OMIM:613610 EXACT CED EXACT Sensenbrenner syndrome Craniofacial dyssynostosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516 Orphanet ID- 1683 OMIM:218350 Cantu syndrome Craniofaciocardioskeletal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Craniofaciocardioskeletal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 OMIM:114620 Orphanet ID- 1684 EXACT Craniofaciocardioskeletal syndrome Malformation syndrome of metabolic origin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139009 Orphanet ID- 16846 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Malformative syndrome affecting bones prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139012 Orphanet ID- 16847 Chondrodysplastic malformation syndrome Orphanet ID- 16848 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139015 Non-chondrodysplastic malformation syndrome affecting bones Orphanet ID- 16849 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139018 Malformation syndrome with connective tissue involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16853 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139030 Progeroid syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139033 Orphanet ID- 16854 Orofacial clefting syndrome true Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16856 Hypertelorism, Teebi Type Brachycephalofrontonasal dysplasia Craniofrontonasal dysplasia, Teebi type Teebi hypertelorism syndrome Teebi syndrome Brachycephalofrontonasal dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1686 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 Craniofrontonasal dysplasia, Teebi type Teebi hypertelorism syndrome Teebi syndrome OMIM:145420 EXACT Brachycephalofrontonasal dysplasia EXACT Teebi syndrome EXACT Craniofrontonasal dysplasia, Teebi type EXACT Teebi hypertelorism syndrome Craniofrontonasal dysplasia CFND CFNS Craniofrontonasal syndrome CFNS ICD10:Q75.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 OMIM:304110 Orphanet ID- 1687 CFND Gene [OrphaNum:121305 ; Name:Ephrin-B1 ; Symbol:EFNB1 ; xref: GENATLAS:EFNB1 ; xref: HGNC:3226 ; xref: OMIM:300035 ; xref: UNIPROTKB/SWISSPROT:P98172 ; xref: ENSEMBL:ENSG00000090776] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Craniofrontonasal syndrome EXACT CFND EXACT Craniofrontonasal syndrome EXACT CFNS Craniofrontonasal dysplasia - Poland anomaly Webster-Deming syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 1688 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521 Webster-Deming syndrome EXACT Webster-Deming syndrome Recessive hereditary methemoglobinemia type 1 NADH-cytochrome b5reductase deficiency type 1 NADH-diaphorase deficiency type 1 Recessive congenital methemoglobinemia type 1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139373 Orphanet ID- 16880 NADH-cytochrome b5reductase deficiency type 1 Recessive congenital methemoglobinemia type 1 OMIM:250800 Gene [OrphaNum:120932 ; Name:Cytochrome b5 reductase 3 ; Symbol:CYB5R3 ; xref: GENATLAS:CYB5R3 ; xref: HGNC:2873 ; xref: UNIPROTKB/SWISSPROT:P00387 ; xref: OMIM:613213 ; xref: REACTOME:P00387 ; xref: ENSEMBL:ENSG00000100243] ICD10:D74.0 NADH-diaphorase deficiency type 1 EXACT Recessive congenital methemoglobinemia type 1 EXACT NADH-diaphorase deficiency type 1 EXACT NADH-cytochrome b5reductase deficiency type 1 Recessive hereditary methemoglobinemia type 2 NADH-cytochrome b5reductase deficiency type 2 NADH-diaphorase deficiency type 2 Recessive congenital methemoglobinemia type 2 NADH-cytochrome b5reductase deficiency type 2 NADH-diaphorase deficiency type 2 Orphanet ID- 16881 OMIM:250800 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; ICD10:D74.0 Gene [OrphaNum:120932 ; Name:Cytochrome b5 reductase 3 ; Symbol:CYB5R3 ; xref: GENATLAS:CYB5R3 ; xref: HGNC:2873 ; xref: UNIPROTKB/SWISSPROT:P00387 ; xref: OMIM:613213 ; xref: REACTOME:P00387 ; xref: ENSEMBL:ENSG00000100243] Recessive congenital methemoglobinemia type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139380 EXACT NADH-diaphorase deficiency type 2 EXACT Recessive congenital methemoglobinemia type 2 EXACT NADH-cytochrome b5reductase deficiency type 2 Isolated craniosynostosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16882 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390 Syndromic craniosynostosis Orphanet ID- 16883 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393 X-linked cerebral adrenoleukodystrophy Orphanet ID- 16884 OMIM:300100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 ICD10:E71.3 Gene [OrphaNum:117677 ; Name:ATP-binding cassette, sub-family D (ALD), member 1 ; Symbol:ABCD1 ; xref: HGNC:61 ; xref: OMIM:300371 ; xref: UNIPROTKB/SWISSPROT:P33897 ; xref: GENATLAS:ABCD1 ; xref: ENSEMBL:ENSG00000101986 ; xref: REACTOME:P33897] prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; Adrenomyeloneuropathy Orphanet ID- 16885 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300100 ICD10:E71.3 Gene [OrphaNum:117677 ; Name:ATP-binding cassette, sub-family D (ALD), member 1 ; Symbol:ABCD1 ; xref: HGNC:61 ; xref: OMIM:300371 ; xref: UNIPROTKB/SWISSPROT:P33897 ; xref: GENATLAS:ABCD1 ; xref: ENSEMBL:ENSG00000101986 ; xref: REACTOME:P33897] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 Encephalopathy due to prosaposin deficiency Combined prosaposin deficiency Gene [OrphaNum:118095 ; Name:Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) ; Symbol:PSAP ; xref: GENATLAS:PSAP ; xref: HGNC:9498 ; xref: OMIM:176801 ; xref: UNIPROTKB/SWISSPROT:P07602 ; xref: REACTOME:P07602 ; xref: ENSEMBL:ENSG00000197746] ICD10:E75.2 Orphanet ID- 16887 Combined prosaposin deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 OMIM:611721 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Combined prosaposin deficiency Carney triad prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Orphanet ID- 16888 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411 ICD10:D44.8 OMIM:604287 Craniometaphyseal dysplasia CMD ICD10:Q78.8 Gene [OrphaNum:121363 ; Name:Ankylosis, progressive homolog (mouse) ; Symbol:ANKH ; xref: GENATLAS:ANKH ; xref: HGNC:15492 ; xref: OMIM:605145 ; xref: UNIPROTKB/SWISSPROT:Q9HCJ1 ; xref: ENSEMBL:ENSG00000154122] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; CMD ICD10:Q75.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 Orphanet ID- 1689 OMIM:218400 OMIM:123000 EXACT CMD Perioral myoclonia with absences POMA Orphanet ID- 16893 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139426 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; POMA EXACT POMA Jeavons syndrome EMEA Eyelid myoclonia with and without absences EMEA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139431 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 16894 Eyelid myoclonia with and without absences EXACT Eyelid myoclonia with and without absences EXACT EMEA Hypomyelination with atrophy of basal ganglia and cerebellum H-ABC OMIM:612438 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 16896 ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 H-ABC EXACT H-ABC Leukoencephalopathy with bilateral anterior temporal lobe cysts Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444 Orphanet ID- 16897 ICD10:E75.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Progressive cavitating leukoencephalopathy Orphanet ID- 16898 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447 ICD10:E75.2 Microtia - eye coloboma - imperforation of the nasolacrimal duct Balikova-Vermeesch syndrome Orphanet ID- 16899 OMIM:611863 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450 Balikova-Vermeesch syndrome EXACT Balikova-Vermeesch syndrome Kennedy disease X-linked bulbospinal amyotrophy ICD10:G12.2 OMIM:313200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive; Gene [OrphaNum:132285 ; Name:Androgen receptor ; Symbol:AR ; xref: GENATLAS:AR ; xref: HGNC:644 ; xref: OMIM:313700 ; xref: UNIPROTKB/SWISSPROT:P10275 ; xref: IUPHAR:628 ; xref: ENSEMBL:ENSG00000169083 ; xref: REACTOME:P10275] Orphanet ID- 169 Retinopathy, Burgess-Black type Autosomal recessive bestrophinopathy Gene [OrphaNum:119029 ; Name:Bestrophin 1 ; Symbol:BEST1 ; xref: OMIM:607854 ; xref: UNIPROTKB/SWISSPROT:O76090 ; xref: GENATLAS:BEST1 ; xref: HGNC:12703 ; xref: ENSEMBL:ENSG00000167995] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 Orphanet ID- 16900 Autosomal recessive bestrophinopathy OMIM:611809 EXACT Autosomal recessive bestrophinopathy SERKAL syndrome Sex reversion - kidneys, adrenal and lung dysgenesis Gene [OrphaNum:120540 ; Name:Wingless-type MMTV integration site family, member 4 ; Symbol:WNT4 ; xref: ENSEMBL:ENSG00000162552 ; xref: REACTOME:P56705 ; xref: GENATLAS:WNT4 ; xref: HGNC:12783 ; xref: OMIM:603490 ; xref: UNIPROTKB/SWISSPROT:P56705] Sex reversion - kidneys, adrenal and lung dysgenesis Orphanet ID- 16903 OMIM:611812 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; EXACT Sex reversion - kidneys, adrenal and lung dysgenesis Microphthalmia with brain and digit anomalies Bakrania-Ragge syndrome MCOPS6 Syndromic microphthalmia type 6 Bakrania-Ragge syndrome ICD10:Q11.2 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Syndromic microphthalmia type 6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 OMIM:607932 Orphanet ID- 16904 Gene [OrphaNum:140047 ; Name:Bone morphogenetic protein 4 ; Symbol:BMP4 ; xref: GENATLAS:BMP4 ; xref: HGNC:1071 ; xref: OMIM:112262 ; xref: UNIPROTKB/SWISSPROT:P12644 ; xref: ENSEMBL:ENSG00000125378] MCOPS6 EXACT Bakrania-Ragge syndrome EXACT Syndromic microphthalmia type 6 EXACT MCOPS6 17q11.2 microduplication syndrome Dup(17)(q11.2) Grisart-Destrée syndrome Trisomy 17q11.2 Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 Orphanet ID- 16905 Grisart-Destrée syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:613675 Trisomy 17q11.2 ICD10:Q92.3 Dup(17)(q11.2) EXACT Trisomy 17q11.2 EXACT Dup(17)(q11.2) EXACT Grisart-Destrée syndrome Al-Gazali-Dattani syndrome CDG1Q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139477 Orphanet ID- 16906 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; CDG1Q OMIM:612379 Gene [OrphaNum:242919 ; Name:Steroid 5 alpha-reductase 3 ; Symbol:SRD5A3 ; xref: GENATLAS:SRD5A3 ; xref: ENSEMBL:ENSG00000128039 ; xref: REACTOME:Q9H8P0 ; xref: HGNC:25812 ; xref: OMIM:611715 ; xref: UNIPROTKB/SWISSPROT:Q9H8P0] EXACT CDG1Q Autosomal recessive spastic paraplegia type 39 SPG39 Spastic paraplegia due to NTE mutation Spastic paraplegia due to neuropathy target esterase mutation Gene [OrphaNum:158087 ; Name:Patatin-like phospholipase domain containing 6 ; Symbol:PNPLA6 ; xref: GENATLAS:PNPLA6 ; xref: HGNC:16268 ; xref: OMIM:603197 ; xref: UNIPROTKB/SWISSPROT:Q8IY17 ; xref: ENSEMBL:ENSG00000032444] Spastic paraplegia due to NTE mutation Orphanet ID- 16907 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 OMIM:612020 SPG39 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G11.4 Spastic paraplegia due to neuropathy target esterase mutation EXACT Spastic paraplegia due to neuropathy target esterase mutation EXACT SPG39 EXACT Spastic paraplegia due to NTE mutation Autosomal recessive ataxia due to ubiquinone deficiency ARCA2 Autosomal recessive ataxia due to coenzyme Q10 deficiency Autosomal recessive spinocerebellar ataxia-9 Recessive cerebellar ataxia-2 SCAR9 Gene [OrphaNum:201526 ; Name:Coenzyme Q9 homolog (S. cerevisiae) ; Symbol:COQ9 ; xref: GENATLAS:COQ9 ; xref: HGNC:25302 ; xref: OMIM:612837 ; xref: UNIPROTKB/SWISSPROT:O75208 ; xref: ENSEMBL:ENSG00000088682] Gene [OrphaNum:140053 ; Name:AarF domain containing kinase 3 ; Symbol:ADCK3 ; xref: ENSEMBL:ENSG00000163050 ; xref: GENATLAS:CABC1 ; xref: HGNC:16812 ; xref: OMIM:606980 ; xref: UNIPROTKB/SWISSPROT:Q8NI60] Gene [OrphaNum:205928 ; Name:Prenyl (decaprenyl) diphosphate synthase, subunit 2 ; Symbol:PDSS2 ; xref: ENSEMBL:ENSG00000164494 ; xref: GENATLAS:PDSS2 ; xref: HGNC:23041 ; xref: OMIM:610564 ; xref: UNIPROTKB/SWISSPROT:Q86YH6] ICD10:G11.1 ARCA2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 OMIM:612016 Autosomal recessive ataxia due to coenzyme Q10 deficiency SCAR9 Gene [OrphaNum:120770 ; Name:Coenzyme Q2 homolog, prenyltransferase (yeast) ; Symbol:COQ2 ; xref: GENATLAS:COQ2 ; xref: HGNC:25223 ; xref: OMIM:609825 ; xref: UNIPROTKB/SWISSPROT:Q96H96 ; xref: ENSEMBL:ENSG00000173085 ; xref: REACTOME:Q96H96] Autosomal recessive spinocerebellar ataxia-9 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 16908 Recessive cerebellar ataxia-2 EXACT SCAR9 EXACT Autosomal recessive ataxia due to coenzyme Q10 deficiency EXACT Recessive cerebellar ataxia-2 EXACT ARCA2 EXACT Autosomal recessive spinocerebellar ataxia-9 Hemochromatosis type 4 Autosomal dominant hereditary hemochromatosis Ferroportin disease Hemochromatosis due to defect in ferroportin prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:119486 ; Name:Solute carrier family 40 (iron-regulated transporter), member 1 ; Symbol:SLC40A1 ; xref: GENATLAS:SLC40A1 ; xref: HGNC:10909 ; xref: OMIM:604653 ; xref: UNIPROTKB/SWISSPROT:Q9NP59 ; xref: ENSEMBL:ENSG00000138449 ; xref: REACTOME:Q9NP59] Ferroportin disease Orphanet ID- 16909 OMIM:606069 Autosomal dominant hereditary hemochromatosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139491 Hemochromatosis due to defect in ferroportin EXACT Autosomal dominant hereditary hemochromatosis EXACT Hemochromatosis due to defect in ferroportin EXACT Ferroportin disease Cranio-osteoarthropathy Currarino disease Currarino idiopathic osteoarthropathy Reginato-Schiapachasse syndrome Reginato-Schiapachasse syndrome Gene [OrphaNum:168077 ; Name:Hydroxyprostaglandin dehydrogenase 15-(NAD) ; Symbol:HPGD ; xref: GENATLAS:HPGD ; xref: HGNC:5154 ; xref: OMIM:601688 ; xref: UNIPROTKB/SWISSPROT:P15428 ; xref: ENSEMBL:ENSG00000164120] Currarino disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 Orphanet ID- 1691 Currarino idiopathic osteoarthropathy prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:259100 EXACT Currarino disease EXACT Reginato-Schiapachasse syndrome EXACT Currarino idiopathic osteoarthropathy African iron overload Bantu siderosis Orphanet ID- 16911 ICD10:E83.1 Bantu siderosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 OMIM:601195 EXACT Bantu siderosis Neuropathy with hearing impairment ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:603324 ICD10:H90.5 Orphanet ID- 16912 Gene [OrphaNum:122135 ; Name:Gap junction protein, beta 3, 31kDa ; Symbol:GJB3 ; xref: GENATLAS:GJB3 ; xref: HGNC:4285 ; xref: OMIM:603324 ; xref: UNIPROTKB/SWISSPROT:O75712 ; xref: REACTOME:O75712 ; xref: ENSEMBL:ENSG00000188910] Charcot-Marie-Tooth disease type 4J CMT4J ICD10:G60.0 CMT4J prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 OMIM:611228 Orphanet ID- 16913 Gene [OrphaNum:159207 ; Name:FIG4 homolog (S. cerevisiae) ; Symbol:FIG4 ; xref: GENATLAS:FIG4 ; xref: HGNC:16873 ; xref: OMIM:609390 ; xref: UNIPROTKB/SWISSPROT:Q92562 ; xref: ENSEMBL:ENSG00000112367] EXACT CMT4J Distal hereditary motor neuropathy type 1 Autosomal dominant distal juvenile spinal muscular atrophy type 1 Distal-HMN-1 Orphanet ID- 16914 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:182960 ICD10:G12.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 Distal-HMN-1 Autosomal dominant distal juvenile spinal muscular atrophy type 1 EXACT Autosomal dominant distal juvenile spinal muscular atrophy type 1 EXACT Distal-HMN-1 Distal hereditary motor neuropathy type 2 Distal spinal muscular atrophy type 2 Distal-HMN-2 Gene [OrphaNum:227387 ; Name:Heat shock 27kDa protein 3 ; Symbol:HSPB3 ; xref: GENATLAS:HSPB3 ; xref: HGNC:5248 ; xref: UNIPROTKB/SWISSPROT:Q12988 ; xref: OMIM:604624 ; xref: ENSEMBL:ENSG00000169271] Distal-HMN-2 OMIM:608634 prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G12.2 Gene [OrphaNum:122526 ; Name:Heat shock 27kDa protein 1 ; Symbol:HSPB1 ; xref: ENSEMBL:ENSG00000106211 ; xref: REACTOME:P04792 ; xref: GENATLAS:HSPB1 ; xref: HGNC:5246 ; xref: OMIM:602195 ; xref: UNIPROTKB/SWISSPROT:P04792] Gene [OrphaNum:122532 ; Name:Heat shock 22kDa protein 8 ; Symbol:HSPB8 ; xref: GENATLAS:HSPB8 ; xref: HGNC:30171 ; xref: OMIM:608014 ; xref: UNIPROTKB/SWISSPROT:Q9UJY1 ; xref: ENSEMBL:ENSG00000152137] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 Orphanet ID- 16915 Distal spinal muscular atrophy type 2 OMIM:613376 OMIM:158590 EXACT Distal-HMN-2 EXACT Distal spinal muscular atrophy type 2 Distal hereditary motor neuropathy type 5 Distal spinal muscular atrophy type 5 Distal-HMN-5 Gene [OrphaNum:122022 ; Name:Glycyl-tRNA synthetase ; Symbol:GARS ; xref: GENATLAS:GARS ; xref: HGNC:4162 ; xref: OMIM:600287 ; xref: UNIPROTKB/SWISSPROT:P41250 ; xref: REACTOME:P41250 ; xref: ENSEMBL:ENSG00000106105] OMIM:614751 prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:600794 ICD10:G12.2 Orphanet ID- 16916 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 Distal spinal muscular atrophy type 5 Gene [OrphaNum:119085 ; Name:Bernardinelli-Seip congenital lipodystrophy 2 (seipin) ; Symbol:BSCL2 ; xref: GENATLAS:BSCL2 ; xref: HGNC:15832 ; xref: OMIM:606158 ; xref: UNIPROTKB/SWISSPROT:Q96G97 ; xref: ENSEMBL:ENSG00000168000] Gene [OrphaNum:118260 ; Name:Receptor accessory protein 1 ; Symbol:REEP1 ; xref: GENATLAS:REEP1 ; xref: HGNC:25786 ; xref: OMIM:609139 ; xref: UNIPROTKB/SWISSPROT:Q9H902 ; xref: ENSEMBL:ENSG00000068615] Distal-HMN-5 EXACT Distal spinal muscular atrophy type 5 EXACT Distal-HMN-5 Distal spinal muscular atrophy type 3 Autosomal recessive distal spinal muscular atrophy type 3 DSMA3 Distal HMN-3 and distal HMN-4 Distal hereditary motor neuropathy type 3 and type 4 Autosomal recessive distal spinal muscular atrophy type 3 Orphanet ID- 16917 ICD10:G12.2 DSMA3 Distal HMN-3 and distal HMN-4 Distal hereditary motor neuropathy type 3 and type 4 OMIM:607088 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Distal hereditary motor neuropathy type 3 and type 4 EXACT DSMA3 EXACT Autosomal recessive distal spinal muscular atrophy type 3 EXACT Distal HMN-3 and distal HMN-4 Distal hereditary motor neuropathy, Jerash type Distal HMN-J Orphanet ID- 16918 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 OMIM:605726 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Distal HMN-J ICD10:G12.2 EXACT Distal HMN-J X-linked distal spinal muscular atrophy X-linked distal hereditary motor neuropathy X-linked distal-HMN ICD10:G12.2 Orphanet ID- 16919 OMIM:300489 X-linked distal-HMN prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; X-linked distal hereditary motor neuropathy Gene [OrphaNum:118879 ; Name:ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) ; Symbol:ATP7A ; xref: GENATLAS:ATP7A ; xref: HGNC:869 ; xref: OMIM:300011 ; xref: UNIPROTKB/SWISSPROT:Q04656 ; xref: ENSEMBL:ENSG00000165240 ; xref: REACTOME:Q04656] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 EXACT X-linked distal-HMN EXACT X-linked distal hereditary motor neuropathy Craniosynostosis - synostoses - hypertensive nephropathy Acro-cephalo synostosis Allain-Babin-Demarquez syndrome Orphanet ID- 1692 Acro-cephalo synostosis Allain-Babin-Demarquez syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1526 EXACT Allain-Babin-Demarquez syndrome EXACT Acro-cephalo synostosis Hereditary sensory and autonomic neuropathy type 1B HSAN with cough and gastroesophageal reflux HSAN1B Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G60.8 Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564 HSAN1B Orphanet ID- 16920 HSAN with cough and gastroesophageal reflux OMIM:608088 EXACT Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux EXACT HSAN with cough and gastroesophageal reflux EXACT HSAN1B Hereditary sensory and autonomic neuropathy with deafness and global delay HSAN with deafness and global delay HSAN with deafness and global delay Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573 Orphanet ID- 16921 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G60.8 EXACT HSAN with deafness and global delay Hereditary sensory and autonomic neuropathy with spastic paraplegia HSAN with spastic paraplegia Orphanet ID- 16922 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 HSAN with spastic paraplegia ICD10:G60.8 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT HSAN with spastic paraplegia X-linked hereditary sensory and autonomic neuropathy with deafness X-linked HSAN with deafness X-linked auditory neuropathy with peripheral sensory neuropathy type 1 Orphanet ID- 16923 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583 X-linked auditory neuropathy with peripheral sensory neuropathy type 1 X-linked HSAN with deafness OMIM:300614 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:178829 ; Name:Auditory neuropathy, X-linked recessive 1 ; Symbol:AUNX1 ; xref: HGNC:31916 ; xref: OMIM:300614] ICD10:G60.8 EXACT X-linked HSAN with deafness EXACT X-linked auditory neuropathy with peripheral sensory neuropathy type 1 Distal hereditary motor neuropathy type 7 Distal spinal muscular atrophy with vocal cord paralysis Distal-HMN-7 Distal spinal muscular atrophy with vocal cord paralysis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 Gene [OrphaNum:140067 ; Name:Dynactin 1 (p150, glued homolog, Drosophila) ; Symbol:DCTN1 ; xref: GENATLAS:DCTN1 ; xref: HGNC:2711 ; xref: OMIM:601143 ; xref: UNIPROTKB/SWISSPROT:Q14203 ; xref: ENSEMBL:ENSG00000204843 ; xref: REACTOME:Q14203] OMIM:158580 Distal-HMN-7 Orphanet ID- 16924 OMIM:607641 ICD10:G12.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Distal spinal muscular atrophy with vocal cord paralysis EXACT Distal-HMN-7 Craniosynostosis, Philadelphia type Orphanet ID- 1693 OMIM:601222 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 ICD10:Q75.8 Craniotelencephalic dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1694 OMIM:218670 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 ICD10:Q04.3 Inherited cancer-predisposing syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140162 Orphanet ID- 16945 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Craniofacial-deafness-hand syndrome CDHS Sommer-Young-Wee-Frye syndrome Orphanet ID- 1695 CDHS Sommer-Young-Wee-Frye syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:124090 ; Name:Paired box 3 ; Symbol:PAX3 ; xref: GENATLAS:PAX3 ; xref: HGNC:8617 ; xref: OMIM:606597 ; xref: UNIPROTKB/SWISSPROT:P23760 ; xref: ENSEMBL:ENSG00000135903] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 OMIM:122880 EXACT Sommer-Young-Wee-Frye syndrome EXACT CDHS Lopez-Hernandez syndrome Cerebellotrigeminal - dermal dysplasia Craniosynostosis - alopecia - brain defect prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Craniosynostosis - alopecia - brain defect OMIM:601853 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 Cerebellotrigeminal - dermal dysplasia ICD10:Q87.0 Orphanet ID- 1696 EXACT Cerebellotrigeminal - dermal dysplasia EXACT Craniosynostosis - alopecia - brain defect Primary intraosseous vascular malformation Intraosseous hemangioma Osseous vascular malformation ICD10:D18.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16965 Intraosseous hemangioma Osseous vascular malformation OMIM:606893 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 EXACT Osseous vascular malformation EXACT Intraosseous hemangioma Hereditary motor and sensory neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140450 Orphanet ID- 16966 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant hereditary demyelinating motor and sensory neuropathy Orphanet ID- 16967 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140453 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant hereditary axonal motor and sensory neuropathy Orphanet ID- 16968 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140456 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive hereditary demyelinating motor and sensory neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140459 Orphanet ID- 16969 Craniosynostosis - fibular aplasia Lowry syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1533 Orphanet ID- 1697 OMIM:218550 Lowry syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Lowry syndrome X-linked recessive hereditary axonal motor and sensory neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140462 Orphanet ID- 16970 Autosomal dominant hereditary distal motor neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16971 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 Autosomal recessive hereditary distal motor neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16972 Hereditary sensory and autonomic neuropathy Orphanet ID- 16973 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140471 Autosomal dominant hereditary sensory and autonomic neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 16974 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140474 Autosomal recessive hereditary sensory and autonomic neuropathy Orphanet ID- 16975 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140477 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant slowed nerve conduction velocity Orphanet ID- 16976 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481 Craniosynostosis - dysmorphism - brachydactyly Glass-Chapman-Hockley syndrome Glass-Chapman-Hockley syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1535 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 1698 EXACT Glass-Chapman-Hockley syndrome Jackson-Weiss syndrome Craniosynostosis - midfacial hypoplasia - foot abnormalities JWS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 Craniosynostosis - midfacial hypoplasia - foot abnormalities ICD10:Q87.0 JWS Orphanet ID- 1699 OMIM:123150 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] EXACT Craniosynostosis - midfacial hypoplasia - foot abnormalities EXACT JWS Neuro-ophthalmological disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140653 Orphanet ID- 16991 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Joubert syndrome and related disorders Orphanet ID- 16992 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 Hyperlipidemia due to hepatic triglyceride lipase deficiency Gene [OrphaNum:159980 ; Name:Lipase, hepatic ; Symbol:LIPC ; xref: GENATLAS:LIPC ; xref: HGNC:6619 ; xref: OMIM:151670 ; xref: UNIPROTKB/SWISSPROT:P11150 ; xref: ENSEMBL:ENSG00000166035 ; xref: REACTOME:P11150] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 Orphanet ID- 16994 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:151670 ICD10:E78.4 Brachydactyly type B2 Gene [OrphaNum:123854 ; Name:Noggin ; Symbol:NOG ; xref: GENATLAS:NOG ; xref: HGNC:7866 ; xref: OMIM:602991 ; xref: UNIPROTKB/SWISSPROT:Q13253 ; xref: ENSEMBL:ENSG00000183691 ; xref: REACTOME:Q13253] Orphanet ID- 16995 OMIM:611377 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Stapes ankylosis with broad thumbs and toes Teunissen-Cremers syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917 OMIM:184460 Orphanet ID- 16998 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Teunissen-Cremers syndrome ICD10:Q87.8 Gene [OrphaNum:123854 ; Name:Noggin ; Symbol:NOG ; xref: GENATLAS:NOG ; xref: HGNC:7866 ; xref: OMIM:602991 ; xref: UNIPROTKB/SWISSPROT:Q13253 ; xref: ENSEMBL:ENSG00000183691 ; xref: REACTOME:Q13253] EXACT Teunissen-Cremers syndrome Autosomal recessive limb-girdle muscular dystrophy type 2J LGMD2J prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 LGMD2J OMIM:608807 ICD10:G71.0 Orphanet ID- 16999 Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] EXACT LGMD2J Myophosphorylase deficiency GSD type 5 Glycogen storage disease type 5 McArdle disease Type 5 glycogenosis prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:118182 ; Name:Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) ; Symbol:PYGM ; xref: GENATLAS:PYGM ; xref: HGNC:9726 ; xref: OMIM:608455 ; xref: UNIPROTKB/SWISSPROT:P11217 ; xref: REACTOME:P11217 ; xref: ENSEMBL:ENSG00000068976] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 McArdle disease Type 5 glycogenosis OMIM:232600 ICD10:E74.0 Glycogen storage disease type 5 GSD type 5 Orphanet ID- 17 EXACT Type 5 glycogenosis EXACT McArdle disease EXACT Glycogen storage disease type 5 EXACT GSD type 5 Severe combined immunodeficiency T- B+ due to gamma chain deficiency SCIDX1 Severe combined immunodeficiency T- B+, X-linked OMIM:300400 SCIDX1 Gene [OrphaNum:122641 ; Name:Interleukin 2 receptor, gamma (severe combined immunodeficiency) ; Symbol:IL2RG ; xref: GENATLAS:IL2RG ; xref: HGNC:6010 ; xref: OMIM:308380 ; xref: UNIPROTKB/SWISSPROT:P31785 ; xref: REACTOME:P31785 ; xref: ENSEMBL:ENSG00000147168] Orphanet ID- 170 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276 ICD10:D81.2 Severe combined immunodeficiency T- B+, X-linked EXACT SCIDX1 EXACT Severe combined immunodeficiency T- B+, X-linked Benign familial neonatal-infantile seizures BFNIS Benign neonatal-infantile epilepsy BFNIS ICD10:G40.4 OMIM:607745 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 17000 Gene [OrphaNum:118500 ; Name:Sodium channel, voltage-gated, type II, alpha subunit ; Symbol:SCN2A ; xref: GENATLAS:SCN2A ; xref: HGNC:10588 ; xref: OMIM:182390 ; xref: UNIPROTKB/SWISSPROT:Q99250 ; xref: REACTOME:Q99250 ; xref: ENSEMBL:ENSG00000136531 ; xref: IUPHAR:579] Benign neonatal-infantile epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 EXACT BFNIS EXACT Benign neonatal-infantile epilepsy Linear atrophoderma of Moulin Orphanet ID- 17001 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933 Lelis syndrome Ectodermal dysplasia - acanthosis nigricans prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:608290 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936 Orphanet ID- 17002 Ectodermal dysplasia - acanthosis nigricans EXACT Ectodermal dysplasia - acanthosis nigricans Short stature due to primary acid-labile subunit deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17003 ICD10:E34.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 Gene [OrphaNum:159982 ; Name:Insulin-like growth factor binding protein, acid labile subunit ; Symbol:IGFALS ; xref: GENATLAS:IGFALS ; xref: HGNC:5468 ; xref: OMIM:601489 ; xref: UNIPROTKB/SWISSPROT:P35858 ; xref: REACTOME:P35858 ; xref: ENSEMBL:ENSG00000099769] OMIM:601489 CLOVE syndrome Congenital lipomatous overgrowth - vascular malformation - epidermal nevi Gene [OrphaNum:117820 ; Name:Phosphoinositide-3-kinase, catalytic, alpha polypeptide ; Symbol:PIK3CA ; xref: GENATLAS:PIK3CA ; xref: HGNC:8975 ; xref: OMIM:171834 ; xref: UNIPROTKB/SWISSPROT:P42336 ; xref: ENSEMBL:ENSG00000121879 ; xref: REACTOME:P42336] OMIM:612918 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Congenital lipomatous overgrowth - vascular malformation - epidermal nevi Orphanet ID- 17004 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 EXACT Congenital lipomatous overgrowth - vascular malformation - epidermal nevi Syndactyly - telecanthus - anogenital and renal malformations STAR syndrome STAR syndrome Orphanet ID- 17006 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:300707 Gene [OrphaNum:159514 ; Name:Family with sequence similarity 58, member A ; Symbol:FAM58A ; xref: GENATLAS:FAM58A ; xref: HGNC:28434 ; xref: OMIM:300708 ; xref: UNIPROTKB/SWISSPROT:Q8N1B3 ; xref: ENSEMBL:ENSG00000147382] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 EXACT STAR syndrome Autosomal dominant macrothrombocytopenia Gene [OrphaNum:122704 ; Name:Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) ; Symbol:ITGB3 ; xref: GENATLAS:ITGB3 ; xref: HGNC:6156 ; xref: OMIM:173470 ; xref: UNIPROTKB/SWISSPROT:P05106 ; xref: ENSEMBL:ENSG00000259207 ; xref: REACTOME:P05106] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957 OMIM:613112 Orphanet ID- 17007 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:D69.4 Gene [OrphaNum:280099 ; Name:Tubulin, beta 1 class VI ; Symbol:TUBB1 ; xref: ENSEMBL:ENSG00000101162 ; xref: REACTOME:Q9H4B7 ; xref: HGNC:16257 ; xref: OMIM:612901 ; xref: GENATLAS:TUBB1 ; xref: UNIPROTKB/SWISSPROT:Q9H4B7] Crisponi syndrome Gene [OrphaNum:123381 ; Name:cytokine receptor-like factor 1 ; Symbol:CRLF1 ; xref: GENATLAS:CRLF1 ; xref: HGNC:2364 ; xref: OMIM:604237 ; xref: UNIPROTKB/SWISSPROT:O75462 ; xref: ENSEMBL:ENSG00000006016] ICD10:Q87.0 OMIM:601378 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545 Orphanet ID- 1701 Bilateral microtia - deafness - cleft palate OMIM:612290 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 17010 Gene [OrphaNum:159716 ; Name:Homeobox A2 ; Symbol:HOXA2 ; xref: GENATLAS:HOXA2 ; xref: HGNC:5103 ; xref: OMIM:604685 ; xref: UNIPROTKB/SWISSPROT:O43364 ; xref: ENSEMBL:ENSG00000105996] Keratosis, Nagashima-type Orphanet ID- 17011 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Saldino-Mainzer syndrome Conorenal syndrome Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia Conorenal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 OMIM:266920 Gene [OrphaNum:302892 ; Name:Intraflagellar transport 140 homolog (Chlamydomonas) ; Symbol:IFT140 ; xref: HGNC:29077 ; xref: OMIM:614620 ; xref: GENATLAS:IFT140 ; xref: UNIPROTKB/SWISSPROT:Q96RY7] Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17012 EXACT Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia EXACT Conorenal syndrome RHYNS syndrome Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17013 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 OMIM:602152 Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia EXACT Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia Primary angiitis of the central nervous system Isolated angiitis of the central nervous system PACNS Primary vasculitis of the central nervous system Isolated angiitis of the central nervous system PACNS prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Sporadic; Orphanet ID- 17015 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989 Primary vasculitis of the central nervous system EXACT Primary vasculitis of the central nervous system EXACT Isolated angiitis of the central nervous system EXACT PACNS Oral-facial-digital syndrome Orphanet ID- 17016 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 Oral-facial-digital syndrome type 11 OFD11 Oral-facial-digital syndrome, Gabrielli type Orofaciodigital syndrome type 11 Orofaciodigital syndrome, Gabrielli type OFD11 Orofaciodigital syndrome, Gabrielli type OMIM:612913 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 Orphanet ID- 17017 Oral-facial-digital syndrome, Gabrielli type Orofaciodigital syndrome type 11 EXACT Oral-facial-digital syndrome, Gabrielli type EXACT Orofaciodigital syndrome type 11 EXACT OFD11 EXACT Orofaciodigital syndrome, Gabrielli type Oral-facial-digital syndrome type 9 OFD9 Oral-facial-digital syndrome with retinal abnormalities Orofaciodigital syndrome type 9 Orofaciodigital syndrome with retinal abnormalities Oral-facial-digital syndrome with retinal abnormalities Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OFD9 ICD10:Q87.0 Orphanet ID- 17018 Orofaciodigital syndrome type 9 Orofaciodigital syndrome with retinal abnormalities OMIM:258865 EXACT Orofaciodigital syndrome with retinal abnormalities EXACT OFD9 EXACT Orofaciodigital syndrome type 9 EXACT Oral-facial-digital syndrome with retinal abnormalities First branchial cleft anomaly First branchial cleft cyst First branchial cleft fistula Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013 Orphanet ID- 17019 First branchial cleft cyst First branchial cleft fistula prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q18.0 EXACT First branchial cleft cyst EXACT First branchial cleft fistula Cryptomicrotia - brachydactyly - excess fingertip arch Tonoki-Ohura-Niikawa syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547 OMIM:123560 Orphanet ID- 1702 Tonoki-Ohura-Niikawa syndrome EXACT Tonoki-Ohura-Niikawa syndrome Second branchial cleft anomaly Second branchial cleft cyst Second branchial cleft fistula OMIM:113600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022 Second branchial cleft fistula Orphanet ID- 17020 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q18.0 Second branchial cleft cyst EXACT Second branchial cleft fistula EXACT Second branchial cleft cyst Third branchial cleft anomaly Third branchial cleft cyst Third branchial cleft fistula Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030 Third branchial cleft cyst prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Third branchial cleft fistula ICD10:Q18.0 Orphanet ID- 17021 EXACT Third branchial cleft fistula EXACT Third branchial cleft cyst Fourth branchial cleft anomaly Fourth branchial cleft cyst Fourth branchial cleft fistula Orphanet ID- 17022 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q18.0 Fourth branchial cleft fistula Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037 Fourth branchial cleft cyst EXACT Fourth branchial cleft cyst EXACT Fourth branchial cleft fistula Cervical dermoid cyst Dermoid cyst of the neck Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046 Orphanet ID- 17023 Dermoid cyst of the neck ICD10:Q18.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Dermoid cyst of the neck Facial dermoid cyst Dermoid cyst of the face ICD10:Q18.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051 Dermoid cyst of the face Orphanet ID- 17024 EXACT Dermoid cyst of the face Commissural lip fistula Orphanet ID- 17026 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061 ICD10:Q38.0 Lower lip fistula Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q38.0 Orphanet ID- 17027 Cervicofacial fibrochondroma Cervicofacial enchondroma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17028 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067 Cervicofacial enchondroma EXACT Cervicofacial enchondroma Digestive duplication cyst of the tongue Enteric duplication cyst of the tongue Foregut duplication cyst of the tongue Gastric duplication cyst of the tongue Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071 Enteric duplication cyst of the tongue prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Foregut duplication cyst of the tongue ICD10:Q38.3 Gastric duplication cyst of the tongue Orphanet ID- 17029 EXACT Enteric duplication cyst of the tongue EXACT Foregut duplication cyst of the tongue EXACT Gastric duplication cyst of the tongue Cryptorchidism - arachnodactyly - intellectual deficit Van Benthem-Driessen-Hanveld syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 Van Benthem-Driessen-Hanveld syndrome Orphanet ID- 1703 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Van Benthem-Driessen-Hanveld syndrome External auditory canal aplasia/hypoplasia External auditory canal stenosis/atresia External auditory canal stenosis/atresia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q16.1 OMIM:108760 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 Orphanet ID- 17030 EXACT External auditory canal stenosis/atresia Epignathus Oropharyngeal teratoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141077 Oropharyngeal teratoma Orphanet ID- 17031 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D10.5 EXACT Oropharyngeal teratoma Nasolacrimal duct cyst Congenital nasolacrimal duct obstruction Congenital nasolacrimal mucocele Dacryocystocele Dacryocystocele Congenital nasolacrimal mucocele prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:H04.6 Orphanet ID- 17032 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 Congenital nasolacrimal duct obstruction EXACT Congenital nasolacrimal mucocele EXACT Congenital nasolacrimal duct obstruction EXACT Dacryocystocele Polyrrhinia Double nose Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091 Orphanet ID- 17033 Double nose prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q30.8 EXACT Double nose Supernumerary nostril prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17034 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096 ICD10:Q30.8 Proboscis lateralis Congenital tubular nose prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099 Orphanet ID- 17035 ICD10:Q30.8 Congenital tubular nose EXACT Congenital tubular nose Nasal dermoid cyst Nasal dermoid sinus cyst Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103 Orphanet ID- 17036 ICD10:Q18.8 OMIM:600679 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Nasal dermoid sinus cyst EXACT Nasal dermoid sinus cyst Nasopharyngeal teratoma Teratoma of the nasopharynx prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D10.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141107 Orphanet ID- 17037 Teratoma of the nasopharynx EXACT Teratoma of the nasopharynx Nasal glial heterotopia Nasal glioma Orphanet ID- 17038 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Nasal glioma EXACT Nasal glioma Nasal ganglioglioma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17039 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141115 Nasal encephalocele prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q01.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 Orphanet ID- 17040 Congenital subglottic stenosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121 Orphanet ID- 17041 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q31.1 Congenital laryngeal cyst Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124 Orphanet ID- 17042 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q31.8 Congenital tracheal stenosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127 Orphanet ID- 17043 OMIM:603569 ICD10:Q32.1 Oculo-auriculo-vertebral spectrum OAV spectrum Unilateral or bilateral and asymmetric otomandibular dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Unilateral or bilateral and asymmetric otomandibular dysplasia Orphanet ID- 17044 OAV spectrum EXACT Unilateral or bilateral and asymmetric otomandibular dysplasia EXACT OAV spectrum Hemifacial microsomia First branchial arch syndrome Laterofacial microsomia Otomandibular dysostosis Otomandibular syndrome Orphanet ID- 17045 Otomandibular dysostosis First branchial arch syndrome ICD10:Q75.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141136 Otomandibular syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Laterofacial microsomia EXACT First branchial arch syndrome EXACT Otomandibular syndrome EXACT Otomandibular dysostosis EXACT Laterofacial microsomia Hemifacial hypertrophy OMIM:133900 ICD10:Q67.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17046 Hemifacial myohyperplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q67.4 Orphanet ID- 17047 OMIM:606773 Isolated congenital hypoglossia/aglossia prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; OMIM:612776 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152 ICD10:Q38.3 Orphanet ID- 17048 Curry-Jones syndrome Corpus callosum agenesis - polysyndactyly Orphanet ID- 1705 ICD10:Q87.0 OMIM:601707 Corpus callosum agenesis - polysyndactyly prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 EXACT Corpus callosum agenesis - polysyndactyly Glossopalatine ankylosis Cosack syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 Orphanet ID- 17051 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Cosack syndrome EXACT Cosack syndrome Cerebrofacial arteriovenous metameric syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17057 Cerebrofacial arteriovenous metameric syndrome type 1 CAMS 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q27.3 CAMS 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194 Orphanet ID- 17058 EXACT CAMS 1 Cerebrofacial arteriovenous metameric syndrome type 3 CAMS 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199 CAMS 3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17059 ICD10:Q27.3 EXACT CAMS 3 Congenital syngnathia Congenital maxillomandibular fusion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 Congenital maxillomandibular fusion ICD10:Q67.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17062 EXACT Congenital maxillomandibular fusion Nasal dorsum fistula/cyst ICD10:Q18.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17063 Oblique facial cleft Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253 Orphanet ID- 17069 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cutis gyrata - acanthosis nigricans - craniosynostosis Beare-Stevenson cutis gyrata syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 1707 Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 OMIM:123790 Beare-Stevenson cutis gyrata syndrome EXACT Beare-Stevenson cutis gyrata syndrome Tessier number 4 facial cleft Orphanet ID- 17070 Gene [OrphaNum:270468 ; Name:sperm antigen with calponin homology and coiled-coil domains 1-like ; Symbol:SPECC1L ; xref: ENSEMBL:ENSG00000100014 ; xref: HGNC:29022 ; xref: OMIM:614140 ; xref: GENATLAS:SPECC1L ; xref: UNIPROTKB/SWISSPROT:Q69YQ0] ICD10:Q18.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 Tessier number 5 facial cleft ICD10:Q18.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17071 Tessier number 6 facial cleft ICD10:Q18.8 Orphanet ID- 17072 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265 Lateral facial cleft Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269 Orphanet ID- 17073 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Commissural facial cleft Macrostomia Gene [OrphaNum:270468 ; Name:sperm antigen with calponin homology and coiled-coil domains 1-like ; Symbol:SPECC1L ; xref: ENSEMBL:ENSG00000100014 ; xref: HGNC:29022 ; xref: OMIM:614140 ; xref: GENATLAS:SPECC1L ; xref: UNIPROTKB/SWISSPROT:Q69YQ0] Macrostomia Gene [OrphaNum:118126 ; Name:Patched homolog 2 (Drosophila) ; Symbol:PTCH2 ; xref: GENATLAS:PTCH2 ; xref: HGNC:9586 ; xref: OMIM:603673 ; xref: UNIPROTKB/SWISSPROT:Q9Y6C5 ; xref: ENSEMBL:ENSG00000117425 ; xref: REACTOME:Q9Y6C5] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:613545 ICD10:Q18.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 Orphanet ID- 17074 EXACT Macrostomia Oral-facial-digital syndrome type 12 OFD12 Orofaciodigital syndrome type 12 Orphanet ID- 17078 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141327 OFD12 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orofaciodigital syndrome type 12 EXACT Orofaciodigital syndrome type 12 EXACT OFD12 Orofaciodigital syndrome type 13 OFD13 Orphanet ID- 17079 OFD13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141330 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT OFD13 Cysts and fistulae of the face and oral cavity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17083 Pinnae fistula or cyst prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838 Orphanet ID- 17084 Coloboma of superior eyelid Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884 Orphanet ID- 17088 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Coloboma of inferior eyelid prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889 Orphanet ID- 17089 Otomandibular dysplasia Orphanet ID- 17090 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mandibulofacial dysostosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899 Orphanet ID- 17091 Primary glaucoma Orphanet ID- 17092 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Keratoconus Orphanet ID- 17093 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156071 Nonacquired isolated growth hormone deficiency Congenital IGHD Congenital isolated GH deficiency Congenital isolated growth hormone deficiency prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Orphanet ID- 171 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631 Congenital isolated growth hormone deficiency Congenital IGHD ICD10:E23.0 Congenital isolated GH deficiency EXACT Congenital isolated GH deficiency EXACT Congenital IGHD EXACT Congenital isolated growth hormone deficiency Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Orphanet ID- 17100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156156 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pure dystonia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17101 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156159 Otomandibular dysplasia associated with monogenic syndromes prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17110 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202 Macroglossia Orphanet ID- 17111 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156207 Hypoglossia/aglossia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156212 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17112 Oromandibular-limb anomalies syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156215 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17113 Paralytic facial malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156224 Orphanet ID- 17114 Syndrome or malformation associated with head and neck malformations Orphanet ID- 17116 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pinnae and external auditory canal anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17117 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243 Nose and cavum anomaly Orphanet ID- 17118 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Larynx anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17119 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249 Cutis verticis gyrata - intellectual deficit McDowall syndrome Orphanet ID- 1712 OMIM:219300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1557 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; McDowall syndrome OMIM:304200 EXACT McDowall syndrome Tracheal anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17120 Rare syndrome with cardiac malformations Orphanet ID- 17121 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156532 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare genetic hepatic disease Orphanet ID- 17122 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156601 Genetic parenchymatous liver disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17123 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156604 Genetic biliary tract disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156607 Orphanet ID- 17124 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare genetic respiratory disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156610 Orphanet ID- 17125 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare genetic urogenital disease Orphanet ID- 17128 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156619 Genetic urogenital tract malformation Orphanet ID- 17129 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156622 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic malformative disorder of sex development Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156625 Orphanet ID- 17130 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic hypertension Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156629 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17131 Rare genetic endocrine disease Orphanet ID- 17132 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156638 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Piepkorn dysplasia Short ribs - craniosynostosis - polysyndactyly Short ribs - craniosynostosis - polysyndactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156723 Orphanet ID- 17134 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Short ribs - craniosynostosis - polysyndactyly Spondyloepimetaphyseal dysplasia, matrilin-3 type SEMD, MATN3-related SEMD, matrilin-3 type Gene [OrphaNum:123158 ; Name:Matrilin 3 ; Symbol:MATN3 ; xref: GENATLAS:MATN3 ; xref: HGNC:6909 ; xref: OMIM:602109 ; xref: UNIPROTKB/SWISSPROT:O15232 ; xref: ENSEMBL:ENSG00000132031] ICD10:Q77.7 SEMD, MATN3-related Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 Orphanet ID- 17135 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:608728 SEMD, matrilin-3 type EXACT SEMD, matrilin-3 type EXACT SEMD, MATN3-related Dyssegmental dysplasia, Rolland-Desbuquois type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17136 OMIM:224400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731 ICD10:Q77.7 Hereditary hypophosphatemic rickets with hypercalciuria HHRH Orphanet ID- 17137 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E83.3 OMIM:241530 HHRH Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 Gene [OrphaNum:118834 ; Name:Solute carrier family 34 (sodium phosphate), member 3 ; Symbol:SLC34A3 ; xref: GENATLAS:SLC34A3 ; xref: HGNC:20305 ; xref: OMIM:609826 ; xref: UNIPROTKB/SWISSPROT:Q8N130 ; xref: REACTOME:Q8N130 ; xref: ENSEMBL:ENSG00000198569] EXACT HHRH Congenital or early infantile CACH syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713 Orphanet ID- 17139 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Late infantile CACH syndrome Orphanet ID- 17140 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 Juvenile or adult CACH syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17141 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 Situs ambiguus Incomplete situs inversus Partial situs inversus Situs ambiguous Partial situs inversus ICD10:Q89.3 OMIM:606325 Gene [OrphaNum:159918 ; Name:Activin A receptor, type IIB ; Symbol:ACVR2B ; xref: GENATLAS:ACVR2B ; xref: HGNC:174 ; xref: OMIM:602730 ; xref: UNIPROTKB/SWISSPROT:Q13705 ; xref: REACTOME:Q13705 ; xref: ENSEMBL:ENSG00000114739] Situs ambiguous Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] OMIM:601086 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 Orphanet ID- 17142 Gene [OrphaNum:168165 ; Name:Left-right determination factor 2 ; Symbol:LEFTY2 ; xref: GENATLAS:LEFTY2 ; xref: HGNC:3122 ; xref: OMIM:601877 ; xref: UNIPROTKB/SWISSPROT:O00292 ; xref: ENSEMBL:ENSG00000143768 ; xref: REACTOME:O00292] OMIM:613751 OMIM:605376 Gene [OrphaNum:119359 ; Name:Cripto, FRL-1, cryptic family 1 ; Symbol:CFC1 ; xref: GENATLAS:CFC1 ; xref: HGNC:18292 ; xref: OMIM:605194 ; xref: UNIPROTKB/SWISSPROT:Q9GZR3 ; xref: REACTOME:Q9GZR3 ; xref: ENSEMBL:ENSG00000136698] Gene [OrphaNum:120613 ; Name:Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila) ; Symbol:ZIC3 ; xref: GENATLAS:ZIC3 ; xref: HGNC:12874 ; xref: OMIM:300265 ; xref: UNIPROTKB/SWISSPROT:O60481 ; xref: ENSEMBL:ENSG00000156925] Incomplete situs inversus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Partial situs inversus EXACT Incomplete situs inversus EXACT Situs ambiguous Hypospadias-hypertelorism-coloboma and deafness OMIM:603463 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157788 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 17143 Hereditary mixed polyposis syndrome Gene [OrphaNum:303758 ; Name:Gremlin 1 ; Symbol:GREM1 ; xref: HGNC:2001 ; xref: OMIM:603054 ; xref: GENATLAS:GREM1 ; xref: UNIPROTKB/SWISSPROT:O60565] OMIM:601228 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 Gene [OrphaNum:119048 ; Name:Bone morphogenetic protein receptor, type IA ; Symbol:BMPR1A ; xref: GENATLAS:BMPR1A ; xref: HGNC:1076 ; xref: OMIM:601299 ; xref: UNIPROTKB/SWISSPROT:P36894 ; xref: REACTOME:P36894 ; xref: ENSEMBL:ENSG00000107779] OMIM:610069 Orphanet ID- 17145 Hyperplastic polyposis syndrome Orphanet ID- 17146 prevalence- 1-5 / 10 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 OMIM:175020 Mesoaxial synostotic syndactyly with phalangeal reduction MSSD Syndactyly type 9 Syndactyly, Malik-Percin type Orphanet ID- 17147 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609432 Syndactyly, Malik-Percin type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 MSSD Syndactyly type 9 EXACT MSSD EXACT Syndactyly type 9 EXACT Syndactyly, Malik-Percin type Congenital pseudoarthrosis of the leg prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808 OMIM:609143 Orphanet ID- 17148 Cold-induced sweating syndrome CISS Gene [OrphaNum:159242 ; Name:Cardiotrophin-like cytokine factor 1 ; Symbol:CLCF1 ; xref: GENATLAS:CLCF1 ; xref: HGNC:17412 ; xref: OMIM:607672 ; xref: UNIPROTKB/SWISSPROT:Q9UBD9 ; xref: ENSEMBL:ENSG00000175505] Orphanet ID- 17149 CISS OMIM:610313 Gene [OrphaNum:123381 ; Name:cytokine receptor-like factor 1 ; Symbol:CRLF1 ; xref: GENATLAS:CRLF1 ; xref: HGNC:2364 ; xref: OMIM:604237 ; xref: UNIPROTKB/SWISSPROT:O75462 ; xref: ENSEMBL:ENSG00000006016] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:272430 EXACT CISS Dacryocystitis - osteopoikilosis Gunal-Seber-Basaran syndrome Orphanet ID- 1715 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:166705 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1562 Gunal-Seber-Basaran syndrome EXACT Gunal-Seber-Basaran syndrome Craniorhiny Orphanet ID- 17152 ICD10:Q30.8 OMIM:123050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Neuroferritinopathy Adult basal ganglia disease Ferritin-related neurodegeneration Hereditary ferritinopathy prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; Orphanet ID- 17155 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 Adult basal ganglia disease OMIM:606159 Ferritin-related neurodegeneration Hereditary ferritinopathy Gene [OrphaNum:121953 ; Name:Ferritin, light polypeptide ; Symbol:FTL ; xref: GENATLAS:FTL ; xref: HGNC:3999 ; xref: OMIM:134790 ; xref: UNIPROTKB/SWISSPROT:P02792 ; xref: ENSEMBL:ENSG00000087086 ; xref: REACTOME:P02792] ICD10:G23.0 EXACT Ferritin-related neurodegeneration EXACT Hereditary ferritinopathy EXACT Adult basal ganglia disease Pantothenate-kinase-associated neurodegeneration Hallervorden-Spatz syndrome NBIA1 Neurodegeneration with brain iron accumulation type 1 PKAN ICD10:G23.0 PKAN Orphanet ID- 17156 NBIA1 Hallervorden-Spatz syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Neurodegeneration with brain iron accumulation type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 OMIM:234200 EXACT PKAN EXACT NBIA1 EXACT Hallervorden-Spatz syndrome EXACT Neurodegeneration with brain iron accumulation type 1 Huntington disease-like 1 Early onset prion disease with prominent psychiatric features OMIM:603218 Orphanet ID- 17159 Early onset prion disease with prominent psychiatric features Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 Gene [OrphaNum:118023 ; Name:Prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) ; Symbol:PRNP ; xref: GENATLAS:PRNP ; xref: HGNC:9449 ; xref: OMIM:176640 ; xref: UNIPROTKB/SWISSPROT:P04156 ; xref: ENSEMBL:ENSG00000171867 ; xref: REACTOME:P04156] prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Early onset prion disease with prominent psychiatric features Dahlberg-Borer-Newcomer syndrome Lymphedema - hypoparathyroidism Orphanet ID- 1716 OMIM:247410 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Lymphedema - hypoparathyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 EXACT Lymphedema - hypoparathyroidism Huntington disease-like 3 Orphanet ID- 17160 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 OMIM:604802 Primary immunodeficiency with skin granulomas Combined cellular and humoral deficiencies and multiple granulomas Combined cellular and humoral deficiencies and multiple granulomas Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:233650 Gene [OrphaNum:118218 ; Name:Recombination activating gene 2 ; Symbol:RAG2 ; xref: GENATLAS:RAG2 ; xref: HGNC:9832 ; xref: OMIM:179616 ; xref: UNIPROTKB/SWISSPROT:P55895 ; xref: ENSEMBL:ENSG00000175097] Gene [OrphaNum:118215 ; Name:Recombination activating gene 1 ; Symbol:RAG1 ; xref: GENATLAS:RAG1 ; xref: HGNC:9831 ; xref: OMIM:179615 ; xref: UNIPROTKB/SWISSPROT:P15918 ; xref: ENSEMBL:ENSG00000166349] Orphanet ID- 17161 EXACT Combined cellular and humoral deficiencies and multiple granulomas ANE syndrome Alopecia - progressive neurological defect - endocrinopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 Alopecia - progressive neurological defect - endocrinopathy OMIM:612079 Orphanet ID- 17162 Gene [OrphaNum:159449 ; Name:RNA binding motif protein 28 ; Symbol:RBM28 ; xref: GENATLAS:RBM28 ; xref: HGNC:21863 ; xref: OMIM:612074 ; xref: UNIPROTKB/SWISSPROT:Q9NW13 ; xref: ENSEMBL:ENSG00000106344] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; EXACT Alopecia - progressive neurological defect - endocrinopathy Oculoauricular syndrome, Schorderet type Orphanet ID- 17163 OMIM:612109 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:159708 ; Name:H6 family homeobox 1 ; Symbol:HMX1 ; xref: GENATLAS:HMX1 ; xref: HGNC:5017 ; xref: OMIM:142992 ; xref: UNIPROTKB/SWISSPROT:Q9NP08 ; xref: ENSEMBL:ENSG00000215612] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 Ehlers-Danlos syndrome, spondylocheiro dysplastic type EDS, spondylocheiro dysplastic type Gene [OrphaNum:159403 ; Name:Solute carrier family 39 (zinc transporter), member 13 ; Symbol:SLC39A13 ; xref: GENATLAS:SLC39A13 ; xref: HGNC:20859 ; xref: OMIM:608735 ; xref: UNIPROTKB/SWISSPROT:Q96H72 ; xref: ENSEMBL:ENSG00000165915] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q79.6 EDS, spondylocheiro dysplastic type OMIM:612350 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 Orphanet ID- 17164 EXACT EDS, spondylocheiro dysplastic type Congenital muscular dystrophy due to LMNA mutation L-CMD LMNA-related congenital muscular dystrophy Orphanet ID- 17166 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 LMNA-related congenital muscular dystrophy Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] L-CMD ICD10:G71.2 OMIM:613205 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT L-CMD EXACT LMNA-related congenital muscular dystrophy Sea-blue histiocytosis OMIM:269600 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; ICD10:D76.3 Orphanet ID- 17180 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158029 Gene [OrphaNum:121390 ; Name:Apolipoprotein E ; Symbol:APOE ; xref: GENATLAS:APOE ; xref: HGNC:613 ; xref: OMIM:107741 ; xref: UNIPROTKB/SWISSPROT:P02649 ; xref: ENSEMBL:ENSG00000130203 ; xref: REACTOME:P02649] Hemophagocytic syndrome Orphanet ID- 17181 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158032 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic dementia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17191 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158124 Huntington disease-like syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158266 Orphanet ID- 17192 Rare genetic hematologic disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17193 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158300 Leprechaunism Donohue syndrome ICD10:E11 Gene [OrphaNum:122664 ; Name:Insulin receptor ; Symbol:INSR ; xref: GENATLAS:INSR ; xref: HGNC:6091 ; xref: OMIM:147670 ; xref: UNIPROTKB/SWISSPROT:P06213 ; xref: ENSEMBL:ENSG00000171105 ; xref: REACTOME:P06213] Donohue syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:246200 ICD10:E34.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 Orphanet ID- 172 EXACT Donohue syndrome Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures Orphanet ID- 1720 OMIM:304340 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 ICD10:Q03.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; De Sanctis-Cacchione syndrome Orphanet ID- 1721 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1569 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Knobloch syndrome Knobloch-Layer syndrome Retinal detachment - occipital encephalocele Orphanet ID- 1722 OMIM:608454 OMIM:267750 Retinal detachment - occipital encephalocele Knobloch-Layer syndrome Gene [OrphaNum:285264 ; Name:ADAM Metallopeptidase with thrombospondin type 1 motif, 18 ; Symbol:ADAMTS18 ; xref: HGNC:17110 ; xref: GENATLAS:ADAMTS18 ; xref: OMIM:607512 ; xref: UNIPROTKB/SWISSPROT:Q8TE60 ; xref: ENSEMBL:ENSG00000140873] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 ICD10:Q15.8 Gene [OrphaNum:120702 ; Name:Collagen, type XVIII, alpha 1 ; Symbol:COL18A1 ; xref: HGNC:2195 ; xref: OMIM:120328 ; xref: UNIPROTKB/SWISSPROT:P39060 ; xref: GENATLAS:COL18A1 ; xref: ENSEMBL:ENSG00000182871] EXACT Retinal detachment - occipital encephalocele EXACT Knobloch-Layer syndrome Familial benign Copper deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551 Orphanet ID- 1723 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E83.0 OMIM:121270 Suprabasal epidermolysis bullosa simplex prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17230 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158661 Basal epidermolysis bullosa simplex Orphanet ID- 17231 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158665 Epidermolysis bullosa simplex due to plakophilin deficiency Orphanet ID- 17232 ICD10:Q81.0 Gene [OrphaNum:117868 ; Name:Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) ; Symbol:PKP1 ; xref: GENATLAS:PKP1 ; xref: HGNC:9023 ; xref: OMIM:601975 ; xref: UNIPROTKB/SWISSPROT:Q13835 ; xref: ENSEMBL:ENSG00000081277 ; xref: REACTOME:Q13835] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 Acral dystrophic epidermolysis bullosa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] Orphanet ID- 17233 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Epidermolysis bullosa, dystrophic, nails only Orphanet ID- 17234 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] Epidermolysis bullosa simplex with migratory circinate erythema Gene [OrphaNum:122913 ; Name:Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) ; Symbol:KRT5 ; xref: GENATLAS:KRT5 ; xref: HGNC:6442 ; xref: OMIM:148040 ; xref: UNIPROTKB/SWISSPROT:P13647 ; xref: ENSEMBL:ENSG00000186081 ; xref: REACTOME:P13647] OMIM:609352 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 ICD10:Q81.0 Orphanet ID- 17235 Epidermolysis bullosa simplex - pyloric atresia OMIM:612138 Gene [OrphaNum:117877 ; Name:Plectin ; Symbol:PLEC ; xref: HGNC:9069 ; xref: GENATLAS:PLEC ; xref: OMIM:601282 ; xref: UNIPROTKB/SWISSPROT:Q15149 ; xref: REACTOME:Q15149 ; xref: ENSEMBL:ENSG00000178209] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; ICD10:Q81.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 Orphanet ID- 17236 Lethal acantholytic epidermolysis bullosa LAEB Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; LAEB Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924] Orphanet ID- 17237 ICD10:Q81.0 OMIM:609638 EXACT LAEB Lipodystrophy due to peptidic growth factors deficiency Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Hoepffner-Dreyer-Reimers syndrome Werner-like syndrome due to combined growth factor deficiency ICD10:E88.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979 OMIM:233805 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Werner-like syndrome due to combined growth factor deficiency Orphanet ID- 1725 Hoepffner-Dreyer-Reimers syndrome EXACT Hoepffner-Dreyer-Reimers syndrome EXACT Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency EXACT Werner-like syndrome due to combined growth factor deficiency Guanidinoacetate methyltransferase deficiency Cerebral creatine deficiency GAMT deficiency Gene [OrphaNum:122011 ; Name:Guanidinoacetate N-methyltransferase ; Symbol:GAMT ; xref: GENATLAS:GAMT ; xref: HGNC:4136 ; xref: OMIM:601240 ; xref: UNIPROTKB/SWISSPROT:Q14353 ; xref: REACTOME:Q14353 ; xref: ENSEMBL:ENSG00000130005] prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 Orphanet ID- 1726 ICD10:E72.8 OMIM:612736 Cerebral creatine deficiency GAMT deficiency EXACT Cerebral creatine deficiency EXACT GAMT deficiency Prolidase deficiency Hyperimidodipeptiduria prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 Orphanet ID- 1727 OMIM:170100 Hyperimidodipeptiduria ICD10:E72.8 Gene [OrphaNum:124187 ; Name:Peptidase D ; Symbol:PEPD ; xref: GENATLAS:PEPD ; xref: HGNC:8840 ; xref: OMIM:613230 ; xref: UNIPROTKB/SWISSPROT:P12955 ; xref: ENSEMBL:ENSG00000124299] EXACT Hyperimidodipeptiduria Steroid dehydrogenase deficiency - dental anomalies Lyngstadaas syndrome Lyngstadaas syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1728 EXACT Lyngstadaas syndrome Transcobalamin II deficiency Congenital deficiency of transcobalamin ICD10:D51.2 Orphanet ID- 1729 OMIM:275350 Gene [OrphaNum:119999 ; Name:Transcobalamin II; macrocytic anemia ; Symbol:TCN2 ; xref: GENATLAS:TCN2 ; xref: HGNC:11653 ; xref: OMIM:613441 ; xref: UNIPROTKB/SWISSPROT:P20062 ; xref: ENSEMBL:ENSG00000185339] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 Congenital deficiency of transcobalamin EXACT Congenital deficiency of transcobalamin Classical homocystinuria Cystathionine beta-synthase deficiency Homocystinuria due to cystathionine beta-synthase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Homocystinuria due to cystathionine beta-synthase deficiency Orphanet ID- 173 OMIM:236200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 Cystathionine beta-synthase deficiency Gene [OrphaNum:119199 ; Name:Cystathionine-beta-synthase ; Symbol:CBS ; xref: ENSEMBL:ENSG00000160200 ; xref: REACTOME:P35520 ; xref: GENATLAS:CBS ; xref: HGNC:1550 ; xref: OMIM:613381 ; xref: UNIPROTKB/SWISSPROT:P35520] ICD10:E72.1 EXACT Homocystinuria due to cystathionine beta-synthase deficiency EXACT Cystathionine beta-synthase deficiency Alpers syndrome Alpers progressive sclerosing poliodystrophy Alpers-Huttenlocher syndrome Progressive neuronal degeneration of childhood with liver disease Alpers-Huttenlocher syndrome Progressive neuronal degeneration of childhood with liver disease Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521] Alpers progressive sclerosing poliodystrophy OMIM:203700 Orphanet ID- 1730 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 ICD10:G31.8 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Alpers progressive sclerosing poliodystrophy EXACT Alpers-Huttenlocher syndrome EXACT Progressive neuronal degeneration of childhood with liver disease Hypotrichosis with juvenile macular degeneration HJMD Hypotrichosis with juvenile macular dystrophy OMIM:601553 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 1731 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 HJMD Hypotrichosis with juvenile macular dystrophy ICD10:Q87.8 Gene [OrphaNum:119285 ; Name:Cadherin 3, type 1, P-cadherin (placental) ; Symbol:CDH3 ; xref: GENATLAS:CDH3 ; xref: HGNC:1762 ; xref: OMIM:114021 ; xref: UNIPROTKB/SWISSPROT:P22223 ; xref: REACTOME:P22223 ; xref: ENSEMBL:ENSG00000062038] EXACT Hypotrichosis with juvenile macular dystrophy EXACT HJMD Retinal degeneration - nanophthalmos - glaucoma Mackay-Shek-Carr syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:267760 Orphanet ID- 1732 Mackay-Shek-Carr syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574 EXACT Mackay-Shek-Carr syndrome Distal monosomy 15q 15q26 deletion Distal 15q deletion Monosomy 15q26 Telomeric 15q deletion Orphanet ID- 1737 Distal 15q deletion OMIM:612626 ICD10:Q93.5 Telomeric 15q deletion Monosomy 15q26 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596 15q26 deletion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Monosomy 15q26 EXACT 15q26 deletion EXACT Distal 15q deletion EXACT Telomeric 15q deletion Monosomy 1p36 Del(1)(p36) Deletion 1p36 Deletion 1pter Monosomy 1pter Subtelomeric 1p36 deletion Del(1)(p36) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 Gene [OrphaNum:121991 ; Name:Gamma-aminobutyric acid (GABA) A receptor, delta ; Symbol:GABRD ; xref: GENATLAS:GABRD ; xref: HGNC:4084 ; xref: OMIM:137163 ; xref: UNIPROTKB/SWISSPROT:O14764 ; xref: IUPHAR:416 ; xref: ENSEMBL:ENSG00000187730] Deletion 1p36 Orphanet ID- 1738 Deletion 1pter prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; Monosomy 1pter OMIM:607872 ICD10:Q93.5 Subtelomeric 1p36 deletion EXACT Deletion 1pter EXACT Monosomy 1pter EXACT Del(1)(p36) EXACT Deletion 1p36 EXACT Subtelomeric 1p36 deletion 2q24 microdeletion syndrome Del(2)(q24) Monosomy 2q24 Orphanet ID- 1739 Monosomy 2q24 Del(2)(q24) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 ICD10:Q93.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; EXACT Monosomy 2q24 EXACT Del(2)(q24) Oculocerebrocutaneous syndrome Delleman syndrome Delleman-Oorthuys syndrome Leichtman-Wood-Rohn syndrome OCCS Orbital cyst with cerebral and focal dermal malformations Delleman-Oorthuys syndrome Delleman syndrome OCCS Leichtman-Wood-Rohn syndrome ICD10:Q87.8 OMIM:164180 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 Orbital cyst with cerebral and focal dermal malformations Orphanet ID- 1741 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; EXACT Orbital cyst with cerebral and focal dermal malformations EXACT OCCS EXACT Delleman syndrome EXACT Delleman-Oorthuys syndrome EXACT Leichtman-Wood-Rohn syndrome Dentin dysplasia prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653 OMIM:125440 Gene [OrphaNum:121202 ; Name:Dentin sialophosphoprotein ; Symbol:DSPP ; xref: GENATLAS:DSPP ; xref: HGNC:3054 ; xref: OMIM:125485 ; xref: UNIPROTKB/SWISSPROT:Q9NZW4 ; xref: ENSEMBL:ENSG00000152591] ICD10:K00.5 OMIM:125420 Orphanet ID- 1743 Gene [OrphaNum:303024 ; Name:SPARC related modular calcium binding 2 ; Symbol:SMOC2 ; xref: HGNC:20323 ; xref: OMIM:607223 ; xref: GENATLAS:SMOC2 ; xref: UNIPROTKB/SWISSPROT:Q9H3U7] OMIM:125400 Natal teeth - intestinal pseudoobstruction - patent ductus OMIM:243185 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1744 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1654 Dermatoosteolysis, Kirghizian type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 1745 OMIM:221810 Cap polyposis Eroded polypoid hyperplasia Inflammatory myoglandular polyps Polypoid prolapsing folds Orphanet ID- 17459 Polypoid prolapsing folds prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Eroded polypoid hyperplasia Inflammatory myoglandular polyps Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=160148 EXACT Eroded polypoid hyperplasia EXACT Polypoid prolapsing folds EXACT Inflammatory myoglandular polyps Absence of fingerprints - congenital milia Absence of dermatoglyphics - congenital milia Baird syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Baird syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 Absence of dermatoglyphics - congenital milia Orphanet ID- 1746 OMIM:129200 EXACT Absence of dermatoglyphics - congenital milia EXACT Baird syndrome Dermo-odonto dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 Orphanet ID- 1749 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:125640 Isolated congenital nasal pyriform aperture stenosis Isolated apertura pyriformis stenosis Isolated nasal pyriform aperture hypoplasia Isolated nasal pyriform aperture hypoplasia ICD10:Q30.8 Isolated apertura pyriformis stenosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 Orphanet ID- 17490 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Isolated nasal pyriform aperture hypoplasia EXACT Isolated apertura pyriformis stenosis Congenital nasal pyriform aperture stenosis with holoprosencephaly Apertura pyriformis with holoprosencephaly Apertura pyriformis with holoprosencephaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162521 ICD10:Q30.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17491 EXACT Apertura pyriformis with holoprosencephaly Isolated congenital auditory ossicle malformation Congenital auditory ossicle malformation without external ear abnormality Congenital auditory ossicle malformation without external ear abnormality Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17492 ICD10:Q16.3 EXACT Congenital auditory ossicle malformation without external ear abnormality Nonsyndromic cerebral malformation due to abnormal neuronal migration Orphanet ID- 17496 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X-linked corneal dermoid Corneal dystrophy epithelial - short stature Guizar-Vasquez-Luengas syndrome Guizar-Vasquez-Luengas syndrome Orphanet ID- 1750 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:304730 Corneal dystrophy epithelial - short stature Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661 EXACT Guizar-Vasquez-Luengas syndrome EXACT Corneal dystrophy epithelial - short stature Hydrops fetalis of Bart Hb Bart's Hydrops Foetalis Syndrome ICD10:D56.0 Gene [OrphaNum:122374 ; Name:Hemoglobin, alpha 2 ; Symbol:HBA2 ; xref: GENATLAS:HBA2 ; xref: HGNC:4824 ; xref: OMIM:141850 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000188536] OMIM:236750 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 Hb Bart's Hydrops Foetalis Syndrome Gene [OrphaNum:138671 ; Name:Hemoglobin, alpha 1 ; Symbol:HBA1 ; xref: GENATLAS:HBA1 ; xref: HGNC:4823 ; xref: OMIM:141800 ; xref: UNIPROTKB/SWISSPROT:P69905 ; xref: ENSEMBL:ENSG00000206172] Orphanet ID- 17507 EXACT Hb Bart's Hydrops Foetalis Syndrome Bile acid synthesis defect with cholestasis and malabsorption Orphanet ID- 17508 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Maffucci syndrome Gene [OrphaNum:118140 ; Name:Parathyroid hormone 1 receptor ; Symbol:PTH1R ; xref: OMIM:168468 ; xref: UNIPROTKB/SWISSPROT:Q03431 ; xref: HGNC:9608 ; xref: GENATLAS:PTH1R ; xref: ENSEMBL:ENSG00000160801 ; xref: IUPHAR:331 ; xref: REACTOME:Q03431] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 17509 OMIM:614569 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 Lethal restrictive dermopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 OMIM:275210 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:120620 ; Name:Zinc metallopeptidase (STE24 homolog, S. cerevisiae) ; Symbol:ZMPSTE24 ; xref: GENATLAS:ZMPSTE24 ; xref: HGNC:12877 ; xref: OMIM:606480 ; xref: UNIPROTKB/SWISSPROT:O75844 ; xref: ENSEMBL:ENSG00000084073] ICD10:Q82.8 Orphanet ID- 1751 Spondyloepiphyseal dysplasia, Nishimura type Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - mental retardation prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:602611 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit Orphanet ID- 17514 ICD10:Q77.7 Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - mental retardation EXACT Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit EXACT Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - mental retardation Spondyloepiphyseal dysplasia, Cantu type Fantasy Island syndrome SED-BDS Spondyloepiphyseal dysplasia - brachydactyly - speech disorder Tattoo dysplasia ICD10:Q77.7 Tattoo dysplasia SED-BDS OMIM:611717 Orphanet ID- 17515 Fantasy Island syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 Spondyloepiphyseal dysplasia - brachydactyly - speech disorder prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; EXACT Tattoo dysplasia EXACT Fantasy Island syndrome EXACT SED-BDS EXACT Spondyloepiphyseal dysplasia - brachydactyly - speech disorder Spondyloepiphyseal dysplasia, Reardon type OMIM:600561 Orphanet ID- 17516 ICD10:Q77.7 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 Spondyloepiphyseal dysplasia tarda, Kohn type ICD10:Q77.7 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17517 OMIM:271620 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 Spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia - myopia - sensorineural deafness OMIM:184000 ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17518 Spondyloepiphyseal dysplasia - myopia - sensorineural deafness EXACT Spondyloepiphyseal dysplasia - myopia - sensorineural deafness Unclassified spondylometaphyseal dysplasia Orphanet ID- 17520 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163678 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cortical dysplasia - focal epilepsy syndrome prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17521 ICD10:Q04.8 Gene [OrphaNum:165932 ; Name:Contactin associated protein-like 2 ; Symbol:CNTNAP2 ; xref: GENATLAS:CNTNAP2 ; xref: HGNC:13830 ; xref: OMIM:604569 ; xref: UNIPROTKB/SWISSPROT:Q9UHC6 ; xref: ENSEMBL:ENSG00000174469] OMIM:610042 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 Leukoencephalopathy - dystonia - motor neuropathy prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 Orphanet ID- 17522 OMIM:613724 Gene [OrphaNum:165921 ; Name:Sterol carrier protein 2 ; Symbol:SCP2 ; xref: GENATLAS:SCP2 ; xref: HGNC:10606 ; xref: OMIM:184755 ; xref: UNIPROTKB/SWISSPROT:P22307 ; xref: ENSEMBL:ENSG00000116171 ; xref: REACTOME:P22307] Hypotonia - cystinuria syndrome HCS OMIM:606407 Orphanet ID- 17524 HCS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 Gene [OrphaNum:123426 ; Name:Solute carrier family 3 (cystine and activator, dibasic and neutral amino acid transporters/transport), member 1 ; Symbol:SLC3A1 ; xref: GENATLAS:SLC3A1 ; xref: HGNC:11025 ; xref: OMIM:104614 ; xref: UNIPROTKB/SWISSPROT:Q07837 ; xref: REACTOME:Q07837 ; xref: ENSEMBL:ENSG00000138079] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:165929 ; Name:Prolyl endopeptidase-like ; Symbol:PREPL ; xref: GENATLAS:PREPL ; xref: HGNC:30228 ; xref: OMIM:609557 ; xref: UNIPROTKB/SWISSPROT:Q4J6C6 ; xref: ENSEMBL:ENSG00000138078] EXACT HCS 2p21 microdeletion syndrome 2p21 deletion Del(2)(p21) Monosomy 2p21 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 Gene [OrphaNum:244720 ; Name:Protein phosphatase, Mg2+/Mn2+ dependent, 1B ; Symbol:PPM1B ; xref: HGNC:9276 ; xref: UNIPROTKB/SWISSPROT:O75688 ; xref: GENATLAS:PPM1B ; xref: OMIM:603770 ; xref: ENSEMBL:ENSG00000138032 ; xref: REACTOME:O75688] ICD10:Q93.5 Del(2)(p21) Gene [OrphaNum:123426 ; Name:Solute carrier family 3 (cystine and activator, dibasic and neutral amino acid transporters/transport), member 1 ; Symbol:SLC3A1 ; xref: GENATLAS:SLC3A1 ; xref: HGNC:11025 ; xref: OMIM:104614 ; xref: UNIPROTKB/SWISSPROT:Q07837 ; xref: REACTOME:Q07837 ; xref: ENSEMBL:ENSG00000138079] 2p21 deletion prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Monosomy 2p21 OMIM:606407 Orphanet ID- 17525 Gene [OrphaNum:165929 ; Name:Prolyl endopeptidase-like ; Symbol:PREPL ; xref: GENATLAS:PREPL ; xref: HGNC:30228 ; xref: OMIM:609557 ; xref: UNIPROTKB/SWISSPROT:Q4J6C6 ; xref: ENSEMBL:ENSG00000138078] Gene [OrphaNum:244716 ; Name:calmodulin-lysine N-methyltransferase ; Symbol:CAMKMT ; xref: GENATLAS:C2orf34 ; xref: HGNC:26276 ; xref: UNIPROTKB/SWISSPROT:Q7Z624 ; xref: OMIM:609559 ; xref: ENSEMBL:ENSG00000143919] EXACT 2p21 deletion EXACT Del(2)(p21) EXACT Monosomy 2p21 Action myoclonus - renal failure syndrome Gene [OrphaNum:165923 ; Name:Scavenger receptor class B, member 2 ; Symbol:SCARB2 ; xref: GENATLAS:SCARB2 ; xref: HGNC:1665 ; xref: OMIM:602257 ; xref: UNIPROTKB/SWISSPROT:Q14108 ; xref: ENSEMBL:ENSG00000138760] OMIM:254900 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 Orphanet ID- 17526 Fever-induced resistant epilepsy in school-age children DESC syndrome Devastating Epileptic encephalopathy in School-age Children FIRES FIRES DESC syndrome Orphanet ID- 17528 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163703 Devastating Epileptic encephalopathy in School-age Children EXACT DESC syndrome EXACT FIRES EXACT Devastating Epileptic encephalopathy in School-age Children Cryptogenic late-onset epileptic spasms Late-onset infantile spasms Late-onset infantile spasms Orphanet ID- 17529 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; EXACT Late-onset infantile spasms Benign familial mesial temporal lobe epilepsy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:611630 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 Orphanet ID- 17531 Rolandic epilepsy - speech dyspraxia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17532 Gene [OrphaNum:119862 ; Name:Sushi-repeat-containing protein, X-linked 2 ; Symbol:SRPX2 ; xref: GENATLAS:SRPX2 ; xref: HGNC:30668 ; xref: OMIM:300642 ; xref: UNIPROTKB/SWISSPROT:O60687 ; xref: ENSEMBL:ENSG00000102359] OMIM:601085 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 OMIM:300643 Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp Orphanet ID- 17533 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 OMIM:608105 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Neurologic Waardenburg-Shah syndrome PCWH Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease WS4 plus WS4plus OMIM:609136 Orphanet ID- 17538 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; PCWH Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Gene [OrphaNum:119786 ; Name:SRY (sex determining region Y)-box 10 ; Symbol:SOX10 ; xref: GENATLAS:SOX10 ; xref: HGNC:11190 ; xref: OMIM:602229 ; xref: UNIPROTKB/SWISSPROT:P56693 ; xref: ENSEMBL:ENSG00000100146] ICD10:E75.2 WS4 plus WS4plus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 EXACT Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease EXACT PCWH EXACT WS4plus EXACT WS4 plus Wolcott-Rallison syndrome Early-onset diabetes mellitus with multiple epiphyseal dysplasia WRS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 Gene [OrphaNum:121317 ; Name:Eukaryotic translation initiation factor 2-alpha kinase 3 ; Symbol:EIF2AK3 ; xref: GENATLAS:EIF2AK3 ; xref: HGNC:3255 ; xref: OMIM:604032 ; xref: UNIPROTKB/SWISSPROT:Q9NZJ5 ; xref: REACTOME:Q9NZJ5 ; xref: ENSEMBL:ENSG00000172071] Early-onset diabetes mellitus with multiple epiphyseal dysplasia ICD10:Q78.8 OMIM:226980 WRS ICD10:E10 Orphanet ID- 1754 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT WRS EXACT Early-onset diabetes mellitus with multiple epiphyseal dysplasia X-linked intellectual deficit, Najm type MICPCH X-linked intellectual deficit - microcephaly - brainstem and cerebellum hypoplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 MICPCH prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300749 Orphanet ID- 17551 X-linked intellectual deficit - microcephaly - brainstem and cerebellum hypoplasia ICD10:Q04.3 Gene [OrphaNum:165976 ; Name:Calcium/calmodulin-dependent serine protein kinase (MAGUK family) ; Symbol:CASK ; xref: GENATLAS:CASK ; xref: HGNC:1497 ; xref: OMIM:300172 ; xref: UNIPROTKB/SWISSPROT:Q5VT19 ; xref: REACTOME:Q5VT19 ; xref: ENSEMBL:ENSG00000147044] EXACT MICPCH EXACT X-linked intellectual deficit - microcephaly - brainstem and cerebellum hypoplasia Intellectual deficit, X-linked, Raymond type Orphanet ID- 17553 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163953 Gene [OrphaNum:159313 ; Name:Zinc finger, DHHC-type containing 9 ; Symbol:ZDHHC9 ; xref: GENATLAS:ZDHHC9 ; xref: HGNC:18475 ; xref: OMIM:300646 ; xref: UNIPROTKB/SWISSPROT:Q9Y397 ; xref: ENSEMBL:ENSG00000188706] OMIM:300799 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Intellectual deficit, X-linked, Nascimento type X-linked intellectual deficit - nail dystrophy - seizures prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300860 Orphanet ID- 17554 Gene [OrphaNum:159080 ; Name:Ubiquitin-conjugating enzyme E2A (RAD6 homolog) ; Symbol:UBE2A ; xref: GENATLAS:UBE2A ; xref: HGNC:12472 ; xref: OMIM:312180 ; xref: UNIPROTKB/SWISSPROT:P49459 ; xref: ENSEMBL:ENSG00000077721 ; xref: REACTOME:P49459] X-linked intellectual deficit - nail dystrophy - seizures Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 EXACT X-linked intellectual deficit - nail dystrophy - seizures Intellectual deficit, X-linked, Kroes type X-linked cerebral - cerebellar - coloboma syndrome Orphanet ID- 17555 X-linked cerebral - cerebellar - coloboma syndrome OMIM:300864 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT X-linked cerebral - cerebellar - coloboma syndrome X-linked dominant chondrodysplasia, Chassaing-Lacombe type X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia Orphanet ID- 17556 X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia OMIM:300863 Gene [OrphaNum:248481 ; Name:Histone deacetylase 6 ; Symbol:HDAC6 ; xref: ENSEMBL:ENSG00000094631 ; xref: REACTOME:Q9UBN7 ; xref: GENATLAS:HDAC6 ; xref: HGNC:14064 ; xref: OMIM:300272 ; xref: UNIPROTKB/SWISSPROT:Q9UBN7] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; EXACT X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia Intellectual deficit, X-linked, Cilliers type X-linked intellectual deficit - microcephaly - testicular failure Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 X-linked intellectual deficit - microcephaly - testicular failure Orphanet ID- 17557 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT X-linked intellectual deficit - microcephaly - testicular failure Intellectual deficit, X-linked, Van Esch type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 17558 Intellectual deficit, X-linked - craniofacioskeletal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 OMIM:300712 Orphanet ID- 17559 Intellectual deficit, X-linked - spastic quadriparesis OMIM:309640 Orphanet ID- 17560 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163982 Hyperekplexia - epilepsy Gene [OrphaNum:166055 ; Name:Cdc42 guanine nucleotide exchange factor (GEF) 9 ; Symbol:ARHGEF9 ; xref: GENATLAS:ARHGEF9 ; xref: HGNC:14561 ; xref: OMIM:300429 ; xref: UNIPROTKB/SWISSPROT:O43307 ; xref: REACTOME:O43307 ; xref: ENSEMBL:ENSG00000131089] OMIM:300607 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 17561 Developmental delay - deafness, Hildebrand type Orphanet ID- 17562 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:117952 ; Name:POU class 3 homeobox 4 ; Symbol:POU3F4 ; xref: HGNC:9217 ; xref: OMIM:300039 ; xref: UNIPROTKB/SWISSPROT:P49335 ; xref: GENATLAS:POU3F4 ; xref: ENSEMBL:ENSG00000196767] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163988 Rare odontal or periodontal disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17563 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164001 Middle ear anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004 Orphanet ID- 17564 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial advanced sleep-phase syndrome FASPS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 Gene [OrphaNum:165845 ; Name:Casein kinase 1, delta ; Symbol:CSNK1D ; xref: GENATLAS:CSNK1D ; xref: HGNC:2452 ; xref: OMIM:600864 ; xref: UNIPROTKB/SWISSPROT:P48730 ; xref: REACTOME:P48730 ; xref: ENSEMBL:ENSG00000141551] prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:604348 FASPS Orphanet ID- 17568 Gene [OrphaNum:167886 ; Name:Period homolog 2 (Drosophila) ; Symbol:PER2 ; xref: GENATLAS:PER2 ; xref: HGNC:8846 ; xref: OMIM:603426 ; xref: UNIPROTKB/SWISSPROT:O15055 ; xref: REACTOME:O15055 ; xref: ENSEMBL:ENSG00000132326] EXACT FASPS Rare acquired medullar aplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17569 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164823 Diastematomyelia Orphanet ID- 1757 OMIM:222500 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 ICD10:Q06.2 Rare genetic gastroenterological disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165652 Orphanet ID- 17572 Genetic intestinal disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165655 Orphanet ID- 17573 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic gastro-esophageal disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165658 Orphanet ID- 17574 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic pancreatic disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165661 Orphanet ID- 17575 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial mesial temporal lobe epilepsy with febrile seizures Orphanet ID- 17579 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120780 ; Name:Carboxypeptidase A6 ; Symbol:CPA6 ; xref: GENATLAS:CPA6 ; xref: HGNC:17245 ; xref: OMIM:609562 ; xref: UNIPROTKB/SWISSPROT:Q8N4T0 ; xref: ENSEMBL:ENSG00000165078] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165805 OMIM:614417 Diazoxide-sensitive diffuse hyperinsulinism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17593 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 Diazoxide-resistant diffuse hyperinsulinism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 Orphanet ID- 17594 Exercise-induced hyperinsulinism EIHI Exercise-induced hyperinsulinemic hypoglycemia Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Exercise-induced hyperinsulinemic hypoglycemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 Hyperinsulinism due to SLC16A1 deficiency EIHI ICD10:E16.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 17595 Gene [OrphaNum:168122 ; Name:Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) ; Symbol:SLC16A1 ; xref: GENATLAS:SLC16A1 ; xref: HGNC:10922 ; xref: OMIM:600682 ; xref: UNIPROTKB/SWISSPROT:P53985 ; xref: ENSEMBL:ENSG00000155380 ; xref: REACTOME:P53985] Hyperinsulinism due to monocarboxylate transporter 1 deficiency OMIM:610021 EXACT EIHI EXACT Hyperinsulinism due to monocarboxylate transporter 1 deficiency EXACT Exercise-induced hyperinsulinemic hypoglycemia EXACT Hyperinsulinism due to SLC16A1 deficiency Selective pituitary resistance to thyroid hormone prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E05.8 Orphanet ID- 17596 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165994 Gene [OrphaNum:120101 ; Name:Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) ; Symbol:THRB ; xref: GENATLAS:THRB ; xref: HGNC:11799 ; xref: OMIM:190160 ; xref: UNIPROTKB/SWISSPROT:P10828 ; xref: IUPHAR:589 ; xref: REACTOME:P10828 ; xref: ENSEMBL:ENSG00000151090] OMIM:145650 Multiple epiphyseal dysplasia due to collagen 9 anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 OMIM:614135 OMIM:600204 OMIM:600969 Gene [OrphaNum:120748 ; Name:Collagen, type IX, alpha 1 ; Symbol:COL9A1 ; xref: GENATLAS:COL9A1 ; xref: HGNC:2217 ; xref: OMIM:120210 ; xref: UNIPROTKB/SWISSPROT:P20849 ; xref: REACTOME:P20849 ; xref: ENSEMBL:ENSG00000112280] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120750 ; Name:Collagen, type IX, alpha 2 ; Symbol:COL9A2 ; xref: GENATLAS:COL9A2 ; xref: HGNC:2218 ; xref: OMIM:120260 ; xref: UNIPROTKB/SWISSPROT:Q14055 ; xref: ENSEMBL:ENSG00000049089 ; xref: REACTOME:Q14055] Gene [OrphaNum:120754 ; Name:Collagen, type IX, alpha 3 ; Symbol:COL9A3 ; xref: GENATLAS:COL9A3 ; xref: HGNC:2219 ; xref: OMIM:120270 ; xref: UNIPROTKB/SWISSPROT:Q14050 ; xref: ENSEMBL:ENSG00000092758 ; xref: REACTOME:Q14050] ICD10:Q78.8 Orphanet ID- 17597 Multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia - myopia - deafness Orphanet ID- 17598 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166011 Multiple epiphyseal dysplasia - myopia - deafness ICD10:Q78.8 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] OMIM:132450 EXACT Multiple epiphyseal dysplasia - myopia - deafness Multiple epiphyseal dysplasia, Lowry type Multiple epiphyseal dysplasia with Robin phenotype Orphanet ID- 17599 OMIM:601560 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 Multiple epiphyseal dysplasia with Robin phenotype prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Multiple epiphyseal dysplasia with Robin phenotype Chronic granulomatous disease Chronic septic granulomatosis OMIM:233690 ICD10:D71 OMIM:138990 Orphanet ID- 176 Gene [OrphaNum:123695 ; Name:Neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1) ; Symbol:NCF1 ; xref: REACTOME:P14598 ; xref: GENATLAS:NCF1 ; xref: HGNC:7660 ; xref: OMIM:608512 ; xref: UNIPROTKB/SWISSPROT:P14598 ; xref: ENSEMBL:ENSG00000158517] Gene [OrphaNum:204415 ; Name:Neutrophil cytosolic factor 4, 40kDa ; Symbol:NCF4 ; xref: REACTOME:Q15080 ; xref: ENSEMBL:ENSG00000100365 ; xref: GENATLAS:NCF4 ; xref: HGNC:7662 ; xref: OMIM:601488 ; xref: UNIPROTKB/SWISSPROT:Q15080] OMIM:613960 OMIM:306400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 OMIM:233710 Chronic septic granulomatosis Gene [OrphaNum:138719 ; Name:Cytochrome b-245, alpha polypeptide ; Symbol:CYBA ; xref: GENATLAS:CYBA ; xref: HGNC:2577 ; xref: OMIM:608508 ; xref: UNIPROTKB/SWISSPROT:P13498 ; xref: REACTOME:P13498 ; xref: ENSEMBL:ENSG00000051523] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Gene [OrphaNum:120935 ; Name:Cytochrome b-245, beta polypeptide (chronic granulomatous disease) ; Symbol:CYBB ; xref: GENATLAS:CYBB ; xref: HGNC:2578 ; xref: OMIM:300481 ; xref: UNIPROTKB/SWISSPROT:P04839 ; xref: REACTOME:P04839 ; xref: ENSEMBL:ENSG00000165168] Gene [OrphaNum:123701 ; Name:Neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) ; Symbol:NCF2 ; xref: ENSEMBL:ENSG00000116701 ; xref: REACTOME:P19878 ; xref: GENATLAS:NCF2 ; xref: HGNC:7661 ; xref: OMIM:608515 ; xref: UNIPROTKB/SWISSPROT:P19878] OMIM:233670 OMIM:233700 EXACT Chronic septic granulomatosis Multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia - macrocephaly - distinctive facies Multiple epiphyseal dysplasia - macrocephaly - distinctive facies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 OMIM:607131 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:268061 ; Name:kinesin family member 7 ; Symbol:KIF7 ; xref: HGNC:30497 ; xref: OMIM:611254 ; xref: GENATLAS:KIF7 ; xref: UNIPROTKB/SWISSPROT:Q2M1P5 ; xref: ENSEMBL:ENSG00000166813] ICD10:Q78.8 Orphanet ID- 17601 EXACT Multiple epiphyseal dysplasia - macrocephaly - distinctive facies Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 OMIM:609324 ICD10:Q78.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17602 Multiple epiphyseal dysplasia, with miniepiphyses Orphanet ID- 17603 ICD10:Q78.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:609325 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 Metaphyseal chondrodysplasia - retinitis pigmentosa OMIM:250410 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17604 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 Metaphyseal chondrodysplasia, Kaitila type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:250230 Orphanet ID- 17605 Pontocerebellar hypoplasia type 4 Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Orphanet ID- 17608 ICD10:Q04.3 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:225753 Gene [OrphaNum:168268 ; Name:tRNA splicing endonuclease 54 homolog (S. cerevisiae) ; Symbol:TSEN54 ; xref: GENATLAS:TSEN54 ; xref: HGNC:27561 ; xref: OMIM:608755 ; xref: UNIPROTKB/SWISSPROT:Q7Z6J9 ; xref: ENSEMBL:ENSG00000182173] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 Fatal infantile encephalopathy with olivopontocerebellar hypoplasia EXACT Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Pontocerebellar hypoplasia type 5 Fetal-onset olivopontocerebellar hypoplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166068 ICD10:Q04.3 Gene [OrphaNum:168268 ; Name:tRNA splicing endonuclease 54 homolog (S. cerevisiae) ; Symbol:TSEN54 ; xref: GENATLAS:TSEN54 ; xref: HGNC:27561 ; xref: OMIM:608755 ; xref: UNIPROTKB/SWISSPROT:Q7Z6J9 ; xref: ENSEMBL:ENSG00000182173] Orphanet ID- 17609 OMIM:610204 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Fetal-onset olivopontocerebellar hypoplasia EXACT Fetal-onset olivopontocerebellar hypoplasia Pontocerebellar hypoplasia type 6 Fatal infantile encephalopathy, with mitochondrial respiratory chain defects Fatal infantile encephalopathy, with mitochondrial respiratory chain defects OMIM:611523 Orphanet ID- 17610 Gene [OrphaNum:159426 ; Name:Arginyl-tRNA synthetase 2, mitochondrial ; Symbol:RARS2 ; xref: GENATLAS:RARS2 ; xref: HGNC:21406 ; xref: OMIM:611524 ; xref: UNIPROTKB/SWISSPROT:Q5T160 ; xref: REACTOME:Q5T160 ; xref: ENSEMBL:ENSG00000146282] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 ICD10:Q04.3 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; EXACT Fatal infantile encephalopathy, with mitochondrial respiratory chain defects Von Willebrand disease type 1 Willebrand disease type 1 ICD10:D68.0 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 Gene [OrphaNum:120487 ; Name:Von Willebrand factor ; Symbol:VWF ; xref: GENATLAS:VWF ; xref: HGNC:12726 ; xref: UNIPROTKB/SWISSPROT:P04275 ; xref: OMIM:613160 ; xref: ENSEMBL:ENSG00000110799 ; xref: REACTOME:P04275] Willebrand disease type 1 Orphanet ID- 17611 OMIM:193400 EXACT Willebrand disease type 1 Von Willebrand disease type 2 Willebrand disease type 2 OMIM:613554 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:D68.0 Orphanet ID- 17612 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081 Willebrand disease type 2 EXACT Willebrand disease type 2 Von Willebrand disease type 2A Gene [OrphaNum:120487 ; Name:Von Willebrand factor ; Symbol:VWF ; xref: GENATLAS:VWF ; xref: HGNC:12726 ; xref: UNIPROTKB/SWISSPROT:P04275 ; xref: OMIM:613160 ; xref: ENSEMBL:ENSG00000110799 ; xref: REACTOME:P04275] Orphanet ID- 17613 ICD10:D68.0 OMIM:613554 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 Von Willebrand disease type 2B ICD10:D68.0 Orphanet ID- 17614 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 OMIM:613554 Gene [OrphaNum:120487 ; Name:Von Willebrand factor ; Symbol:VWF ; xref: GENATLAS:VWF ; xref: HGNC:12726 ; xref: UNIPROTKB/SWISSPROT:P04275 ; xref: OMIM:613160 ; xref: ENSEMBL:ENSG00000110799 ; xref: REACTOME:P04275] prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Von Willebrand disease type 2M Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 Orphanet ID- 17615 ICD10:D68.0 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:613554 Gene [OrphaNum:120487 ; Name:Von Willebrand factor ; Symbol:VWF ; xref: GENATLAS:VWF ; xref: HGNC:12726 ; xref: UNIPROTKB/SWISSPROT:P04275 ; xref: OMIM:613160 ; xref: ENSEMBL:ENSG00000110799 ; xref: REACTOME:P04275] Von Willebrand disease type 2N Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D68.0 Gene [OrphaNum:120487 ; Name:Von Willebrand factor ; Symbol:VWF ; xref: GENATLAS:VWF ; xref: HGNC:12726 ; xref: UNIPROTKB/SWISSPROT:P04275 ; xref: OMIM:613160 ; xref: ENSEMBL:ENSG00000110799 ; xref: REACTOME:P04275] Orphanet ID- 17616 OMIM:613554 Von Willebrand disease type 3 Willebrand disease type 3 Willebrand disease type 3 OMIM:277480 Gene [OrphaNum:120487 ; Name:Von Willebrand factor ; Symbol:VWF ; xref: GENATLAS:VWF ; xref: HGNC:12726 ; xref: UNIPROTKB/SWISSPROT:P04275 ; xref: OMIM:613160 ; xref: ENSEMBL:ENSG00000110799 ; xref: REACTOME:P04275] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 Orphanet ID- 17617 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D68.0 EXACT Willebrand disease type 3 Stickler syndrome type 3 Stickler syndrome, nonocular type Orphanet ID- 17618 Stickler syndrome, nonocular type Gene [OrphaNum:120693 ; Name:Collagen, type XI, alpha 2 ; Symbol:COL11A2 ; xref: GENATLAS:COL11A2 ; xref: HGNC:2187 ; xref: OMIM:120290 ; xref: UNIPROTKB/SWISSPROT:P13942 ; xref: ENSEMBL:ENSG00000204248] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 ICD10:Q87.5 OMIM:184840 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Stickler syndrome, nonocular type FASTKD2-related infantile mitochondrial encephalomyopathy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:168272 ; Name:FAST kinase domains 2 ; Symbol:FASTKD2 ; xref: GENATLAS:FASTKD2 ; xref: HGNC:29160 ; xref: OMIM:612322 ; xref: UNIPROTKB/SWISSPROT:Q9NYY8 ; xref: ENSEMBL:ENSG00000118246] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 Orphanet ID- 17619 Intellectual deficit, Birk-Barel type Intellectual deficit - hypotonia - facial dysmorphism OMIM:612292 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17620 Intellectual deficit - hypotonia - facial dysmorphism Gene [OrphaNum:166255 ; Name:Potassium channel, subfamily K, member 9 ; Symbol:KCNK9 ; xref: GENATLAS:KCNK9 ; xref: HGNC:6283 ; xref: OMIM:605874 ; xref: UNIPROTKB/SWISSPROT:Q9NPC2 ; xref: IUPHAR:520 ; xref: ENSEMBL:ENSG00000169427 ; xref: REACTOME:Q9NPC2] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 EXACT Intellectual deficit - hypotonia - facial dysmorphism Bazex syndrome Acrokeratosis of Bazex Acrokeratosis paraneoplastica Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Acrokeratosis paraneoplastica Orphanet ID- 17621 Acrokeratosis of Bazex EXACT Acrokeratosis paraneoplastica EXACT Acrokeratosis of Bazex Isolated osteopoikilosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:166700 Orphanet ID- 17622 Gene [OrphaNum:123031 ; Name:LEM domain containing 3 ; Symbol:LEMD3 ; xref: GENATLAS:LEMD3 ; xref: HGNC:28887 ; xref: OMIM:607844 ; xref: UNIPROTKB/SWISSPROT:Q9Y2U8 ; xref: ENSEMBL:ENSG00000174106] Dentinogenesis imperfecta type 2 Dentinogenesis imperfecta , Shields type 2 ICD10:K00.5 Gene [OrphaNum:121202 ; Name:Dentin sialophosphoprotein ; Symbol:DSPP ; xref: GENATLAS:DSPP ; xref: HGNC:3054 ; xref: OMIM:125485 ; xref: UNIPROTKB/SWISSPROT:Q9NZW4 ; xref: ENSEMBL:ENSG00000152591] Dentinogenesis imperfecta , Shields type 2 OMIM:125490 OMIM:605594 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17624 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 EXACT Dentinogenesis imperfecta , Shields type 2 Dentinogenesis imperfecta type 3 Dentinogenesis imperfecta , Shields type 3 ICD10:K00.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121202 ; Name:Dentin sialophosphoprotein ; Symbol:DSPP ; xref: GENATLAS:DSPP ; xref: HGNC:3054 ; xref: OMIM:125485 ; xref: UNIPROTKB/SWISSPROT:Q9NZW4 ; xref: ENSEMBL:ENSG00000152591] OMIM:125500 Orphanet ID- 17625 Dentinogenesis imperfecta , Shields type 3 EXACT Dentinogenesis imperfecta , Shields type 3 Goldblatt syndrome Chondrodysplasia - dentinogenesis imperfecta - joint laxity Goldblatt chondrodysplasia Odontochondrodysplasia Goldblatt chondrodysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 17626 Odontochondrodysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 Chondrodysplasia - dentinogenesis imperfecta - joint laxity OMIM:184260 EXACT Odontochondrodysplasia EXACT Chondrodysplasia - dentinogenesis imperfecta - joint laxity EXACT Goldblatt chondrodysplasia Suarez-Stickler syndrome Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:604922 Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 Orphanet ID- 17627 EXACT Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality Sick sinus syndrome Sinus node dysfunction true OMIM:614090 OMIM:163800 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Sinus node dysfunction Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] Gene [OrphaNum:123619 ; Name:Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) ; Symbol:MYH6 ; xref: REACTOME:P13533 ; xref: GENATLAS:MYH6 ; xref: HGNC:7576 ; xref: OMIM:160710 ; xref: UNIPROTKB/SWISSPROT:P13533 ; xref: ENSEMBL:ENSG00000197616] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 Orphanet ID- 17628 Gene [OrphaNum:122381 ; Name:Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ; Symbol:HCN4 ; xref: GENATLAS:HCN4 ; xref: HGNC:16882 ; xref: OMIM:605206 ; xref: UNIPROTKB/SWISSPROT:Q9Y3Q4 ; xref: REACTOME:Q9Y3Q4 ; xref: ENSEMBL:ENSG00000138622 ; xref: IUPHAR:403] OMIM:608567 EXACT Sinus node dysfunction Benign non-familial infantile seizures Orphanet ID- 17631 ICD10:G40.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166295 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Benign partial epilepsy of infancy with complex partial seizures ICD10:G40.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166299 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17632 Benign partial epilepsy with secondarily generalized seizures in infancy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17633 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166302 ICD10:G40.1 Benign infantile seizures associated to mild gastroenteritis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17634 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166305 Benign infantile focal epilepsy with midline spikes and wave during sleep Orphanet ID- 17635 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Benign partial infantile seizures Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166311 Orphanet ID- 17636 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Photosensitive epilepsy Orphanet ID- 17639 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166409 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hot water reflex epilepsy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166412 Orphanet ID- 17640 Audiogenic seizures Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166415 Orphanet ID- 17641 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Eating seizures prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17642 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166418 Orgasm-induced seizures prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17643 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166421 Thinking seizures Orphanet ID- 17644 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166424 Startle epilepsy Orphanet ID- 17645 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166427 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Micturation-induced seizures Orphanet ID- 17646 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166430 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Reading seizures Orphanet ID- 17647 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166433 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Epileptic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166463 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17649 Neurocutaneous syndrome with epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466 Orphanet ID- 17650 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Monogenic disease with epilepsy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17652 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166472 Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17653 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166475 Cerebral malformation with epilepsy Orphanet ID- 17654 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cerebral diseases of vascular origin with epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166487 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17657 Scleromyxedema Arndt-Gottron disease Generalized lichenoid papular eruption Generalized papular and sclerodermoid lichen myxedematosus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167635 Arndt-Gottron disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17682 Generalized lichenoid papular eruption Generalized papular and sclerodermoid lichen myxedematosus ICD10:L98.5 EXACT Arndt-Gottron disease EXACT Generalized lichenoid papular eruption EXACT Generalized papular and sclerodermoid lichen myxedematosus Hereditary dentin defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167759 Orphanet ID- 17686 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare disease with dentinogenesis imperfecta Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167762 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17687 Blue cone monochromatism Atypical X-linked achromatopsia X-linked incomplete achromatopsia ICD10:H53.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 Atypical X-linked achromatopsia OMIM:303700 X-linked incomplete achromatopsia Gene [OrphaNum:124012 ; Name:Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ; Symbol:OPN1MW ; xref: GENATLAS:OPN1MW ; xref: HGNC:4206 ; xref: OMIM:613523 ; xref: UNIPROTKB/SWISSPROT:P04001 ; xref: REACTOME:P04001 ; xref: ENSEMBL:ENSG00000147380] Gene [OrphaNum:124007 ; Name:Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) ; Symbol:OPN1LW ; xref: ENSEMBL:ENSG00000102076 ; xref: GENATLAS:OPN1LW ; xref: HGNC:9936 ; xref: UNIPROTKB/SWISSPROT:P04000 ; xref: OMIM:613524 ; xref: REACTOME:P04000] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; Orphanet ID- 177 EXACT Atypical X-linked achromatopsia EXACT X-linked incomplete achromatopsia Caudal duplication Dipygus Split notochord syndrome Dipygus OMIM:607864 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; Split notochord syndrome Orphanet ID- 1772 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 EXACT Split notochord syndrome EXACT Dipygus Fibular dimelia - diplopodia Leg duplication - mirror foot Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757 Leg duplication - mirror foot prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 1773 EXACT Leg duplication - mirror foot Dyschondrosteosis - nephritis Orphanet ID- 1776 OMIM:127350 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1765 Spondyloepimetaphyseal dysplasia - hypotrichosis ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 OMIM:183849 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17761 Spondyloepimetaphyseal dysplasia, Bieganski type OMIM:300232 Orphanet ID- 17762 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168448 Spondyloepimetaphyseal dysplasia - abnormal dentition Orphanet ID- 17763 ICD10:Q77.7 OMIM:601668 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Spondyloepimetaphyseal dysplasia, Genevieve type prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 ICD10:Q77.7 Orphanet ID- 17764 OMIM:610442 Congenital neuronal ceroid lipofuscinosis Congenital NCL Orphanet ID- 17765 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; ICD10:E75.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168486 OMIM:610127 Congenital NCL EXACT Congenital NCL Late infantile neuronal ceroid lipofuscinosis Jansky-Bielschowsky disease LINCL Late infantile NCL ICD10:E75.4 OMIM:204500 OMIM:601780 Orphanet ID- 17766 Late infantile NCL OMIM:256730 LINCL OMIM:256731 Jansky-Bielschowsky disease OMIM:610951 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; OMIM:600143 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168491 EXACT Jansky-Bielschowsky disease EXACT LINCL EXACT Late infantile NCL Spondylometaphyseal dysplasia, Golden type X-linked spondylometaphyseal dysplasia OMIM:313420 Orphanet ID- 17767 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 ICD10:Q77.8 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; X-linked spondylometaphyseal dysplasia EXACT X-linked spondylometaphyseal dysplasia Axial spondylometaphyseal dysplasia ICD10:Q77.8 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 Orphanet ID- 17768 OMIM:602271 Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 ICD10:Q77.8 OMIM:607543 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17769 Dysequilibrium syndrome Non progressive cerebellar ataxia - intellectual deficit VLDLR-associated cerebellar hypoplasia Orphanet ID- 1777 Non progressive cerebellar ataxia - intellectual deficit OMIM:224050 ICD10:G11.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:120470 ; Name:Very low density lipoprotein receptor ; Symbol:VLDLR ; xref: GENATLAS:VLDLR ; xref: HGNC:12698 ; xref: OMIM:192977 ; xref: UNIPROTKB/SWISSPROT:P98155 ; xref: ENSEMBL:ENSG00000147852] VLDLR-associated cerebellar hypoplasia EXACT Non progressive cerebellar ataxia - intellectual deficit EXACT VLDLR-associated cerebellar hypoplasia Spondylometaphyseal dysplasia, A4 type prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609052 Orphanet ID- 17770 ICD10:Q77.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 46,XY disorder of sex development - adrenal insufficiency XY sex reversal - adrenal failure Orphanet ID- 17771 OMIM:613743 ICD10:Q56.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 Gene [OrphaNum:120945 ; Name:Cytochrome P450, family 11, subfamily A, polypeptide 1 ; Symbol:CYP11A1 ; xref: GENATLAS:CYP11A1 ; xref: HGNC:2590 ; xref: OMIM:118485 ; xref: UNIPROTKB/SWISSPROT:P05108 ; xref: ENSEMBL:ENSG00000140459 ; xref: REACTOME:P05108] Gene [OrphaNum:168312 ; Name:Nuclear receptor subfamily 5, group A, member 1 ; Symbol:NR5A1 ; xref: GENATLAS:NR5A1 ; xref: HGNC:7983 ; xref: OMIM:184757 ; xref: UNIPROTKB/SWISSPROT:Q13285 ; xref: IUPHAR:632 ; xref: REACTOME:Q13285 ; xref: ENSEMBL:ENSG00000136931] OMIM:184757 XY sex reversal - adrenal failure prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; EXACT XY sex reversal - adrenal failure 46,XY gonadal dysgenesis - motor and sensory neuropathy ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 ICD10:Q97.3 OMIM:607080 Orphanet ID- 17772 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121069 ; Name:Desert hedgehog homolog (Drosophila) ; Symbol:DHH ; xref: GENATLAS:DHH ; xref: HGNC:2865 ; xref: OMIM:605423 ; xref: UNIPROTKB/SWISSPROT:O43323 ; xref: REACTOME:O43323 ; xref: ENSEMBL:ENSG00000139549] Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Orphanet ID- 17773 Gene [OrphaNum:173154 ; Name:Ts translation elongation factor, mitochondrial ; Symbol:TSFM ; xref: GENATLAS:TSFM ; xref: HGNC:12367 ; xref: OMIM:604723 ; xref: UNIPROTKB/SWISSPROT:P43897 ; xref: ENSEMBL:ENSG00000123297] OMIM:610505 H syndrome OMIM:602782 Gene [OrphaNum:173057 ; Name:Solute carrier family 29 (nucleoside transporters), member 3 ; Symbol:SLC29A3 ; xref: GENATLAS:SLC29A3 ; xref: HGNC:23096 ; xref: OMIM:612373 ; xref: UNIPROTKB/SWISSPROT:Q9BZD2 ; xref: ENSEMBL:ENSG00000198246 ; xref: REACTOME:Q9BZD2] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 Orphanet ID- 17774 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Native American myopathy Congenital myopathy - cleft palate - malignant hyperthermia ICD10:G71.2 Orphanet ID- 17775 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital myopathy - cleft palate - malignant hyperthermia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 OMIM:255995 EXACT Congenital myopathy - cleft palate - malignant hyperthermia Hereditary cryohydrocytosis with reduced stomatin CHC type 2 Hereditary cryohydrocytosis type 2 Stomatin-deficient cryohydrocytosis sdCHC Gene [OrphaNum:158410 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 1 ; Symbol:SLC2A1 ; xref: UNIPROTKB/SWISSPROT:P11166 ; xref: REACTOME:P11166 ; xref: GENATLAS:SLC2A1 ; xref: HGNC:11005 ; xref: OMIM:138140 ; xref: ENSEMBL:ENSG00000117394] CHC type 2 Hereditary cryohydrocytosis type 2 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:D58.8 Orphanet ID- 17776 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 sdCHC Stomatin-deficient cryohydrocytosis OMIM:608885 EXACT Stomatin-deficient cryohydrocytosis EXACT CHC type 2 EXACT sdCHC EXACT Hereditary cryohydrocytosis type 2 Hereditary North American Indian childhood cirrhosis OMIM:604901 Orphanet ID- 17777 Gene [OrphaNum:173184 ; Name:Cirrhosis, autosomal recessive 1A (cirhin) ; Symbol:CIRH1A ; xref: GENATLAS:CIRH1A ; xref: HGNC:1983 ; xref: OMIM:607456 ; xref: UNIPROTKB/SWISSPROT:Q969X6 ; xref: ENSEMBL:ENSG00000141076] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Hyperandrogenism due to cortisone reductase deficiency 11-beta-hydroxysteroid dehydrogenase deficiency type 1 11-beta-hydroxysteroid dehydrogenase deficiency type 1 ICD10:E25.8 Gene [OrphaNum:173206 ; Name:Hydroxysteroid (11-beta) dehydrogenase 1 ; Symbol:HSD11B1 ; xref: GENATLAS:HSD11B1 ; xref: HGNC:5208 ; xref: OMIM:600713 ; xref: UNIPROTKB/SWISSPROT:P28845 ; xref: ENSEMBL:ENSG00000117594 ; xref: REACTOME:P28845] Gene [OrphaNum:173203 ; Name:Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) ; Symbol:H6PD ; xref: GENATLAS:H6PD ; xref: HGNC:4795 ; xref: OMIM:138090 ; xref: UNIPROTKB/SWISSPROT:O95479 ; xref: ENSEMBL:ENSG00000049239] OMIM:614662 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:604931 Orphanet ID- 17778 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 EXACT 11-beta-hydroxysteroid dehydrogenase deficiency type 1 Sudden infant death - dysgenesis of the testes SIDDT Orphanet ID- 17779 OMIM:608800 ICD10:R95 SIDDT prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:173211 ; Name:TSPY-like 1 ; Symbol:TSPYL1 ; xref: GENATLAS:TSPYL1 ; xref: HGNC:12382 ; xref: OMIM:604714 ; xref: UNIPROTKB/SWISSPROT:Q9H0U9 ; xref: ENSEMBL:ENSG00000189241] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 ICD10:Q55.2 EXACT SIDDT Brain demyelination due to methionine adenosyltransferase deficiency MAT I/III deficiency MAT deficiency Methionine adenosyltransferase deficiency MAT I/III deficiency OMIM:250850 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17780 Gene [OrphaNum:173216 ; Name:Methionine adenosyltransferase I, alpha ; Symbol:MAT1A ; xref: GENATLAS:MAT1A ; xref: HGNC:6903 ; xref: OMIM:610550 ; xref: UNIPROTKB/SWISSPROT:Q00266 ; xref: ENSEMBL:ENSG00000151224 ; xref: REACTOME:Q00266] Methionine adenosyltransferase deficiency ICD10:E72.1 MAT deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 EXACT MAT deficiency EXACT Methionine adenosyltransferase deficiency EXACT MAT I/III deficiency Congenital enteropathy due to enteropeptidase deficiency Congenital enterokinase deficiency Gene [OrphaNum:173222 ; Name:Transmembrane protease, serine 15 ; Symbol:TMPRSS15 ; xref: GENATLAS:PRSS7 ; xref: HGNC:9490 ; xref: OMIM:606635 ; xref: UNIPROTKB/SWISSPROT:P98073 ; xref: ENSEMBL:ENSG00000154646] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 Orphanet ID- 17781 OMIM:226200 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital enterokinase deficiency EXACT Congenital enterokinase deficiency Seborrhea-like dermatitis with psoriasiform elements OMIM:610227 Gene [OrphaNum:173226 ; Name:Zinc finger protein 750 ; Symbol:ZNF750 ; xref: GENATLAS:ZNF750 ; xref: HGNC:25843 ; xref: OMIM:610226 ; xref: UNIPROTKB/SWISSPROT:Q32MQ0 ; xref: ENSEMBL:ENSG00000141579] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 Orphanet ID- 17782 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure Gene [OrphaNum:123552 ; Name:Mitochondrially encoded NADH dehydrogenase 4 ; Symbol:MT-ND4 ; xref: ENSEMBL:ENSG00000198886 ; xref: GENATLAS:MT-ND4 ; xref: HGNC:7459 ; xref: OMIM:516003 ; xref: UNIPROTKB/SWISSPROT:P03905 ; xref: REACTOME:P03905] Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure Gene [OrphaNum:167901 ; Name:Mitochondrially encoded tRNA serine 1 (UCN) ; Symbol:MT-TS1 ; xref: GENATLAS:MT-TS1 ; xref: HGNC:7497 ; xref: OMIM:590080] Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure Orphanet ID- 17783 Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure Gene [OrphaNum:138902 ; Name:Mitochondrially encoded 12S RNA ; Symbol:MT-RNR1 ; xref: GENATLAS:MT-RNR1 ; xref: HGNC:7470 ; xref: OMIM:561000] OMIM:580000 Gene [OrphaNum:123512 ; Name:Mitochondrially encoded cytochrome c oxidase I ; Symbol:MT-CO1 ; xref: ENSEMBL:ENSG00000198804 ; xref: REACTOME:P00395 ; xref: GENATLAS:MT-CO1 ; xref: HGNC:7419 ; xref: OMIM:516030 ; xref: UNIPROTKB/SWISSPROT:P00395] Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168609 Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; EXACT Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure EXACT Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure EXACT Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure EXACT Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure EXACT Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure EXACT Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure EXACT Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure Congenital deficiency in alpha-fetoprotein Gene [OrphaNum:173230 ; Name:Alpha-fetoprotein ; Symbol:AFP ; xref: GENATLAS:AFP ; xref: HGNC:317 ; xref: OMIM:104150 ; xref: UNIPROTKB/SWISSPROT:P02771 ; xref: ENSEMBL:ENSG00000081051] Orphanet ID- 17784 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612 OMIM:104150 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary persistence of alpha-fetoprotein Orphanet ID- 17785 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615 OMIM:104150 Gene [OrphaNum:173230 ; Name:Alpha-fetoprotein ; Symbol:AFP ; xref: GENATLAS:AFP ; xref: HGNC:317 ; xref: OMIM:104150 ; xref: UNIPROTKB/SWISSPROT:P02771 ; xref: ENSEMBL:ENSG00000081051] Dysplasia of head of femur, Meyer type Orphanet ID- 17787 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168621 Familial scaphocephaly syndrome, McGillivray type Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit OMIM:609579 Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 Orphanet ID- 17788 EXACT Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit Autosomal thrombocytopenia with normal platelets OMIM:273900 OMIM:188000 ICD10:D69.4 Gene [OrphaNum:260545 ; Name:ankyrin repeat domain 26 ; Symbol:ANKRD26 ; xref: ENSEMBL:ENSG00000107890 ; xref: GENATLAS:ANKRD26 ; xref: UNIPROTKB/SWISSPROT:Q9UPS8 ; xref: HGNC:29186 ; xref: OMIM:610855] Orphanet ID- 17789 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:173240 ; Name:Cytochrome c, somatic ; Symbol:CYCS ; xref: GENATLAS:CYCS ; xref: HGNC:19986 ; xref: OMIM:123970 ; xref: UNIPROTKB/SWISSPROT:P99999 ; xref: REACTOME:P99999 ; xref: ENSEMBL:ENSG00000172115] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 OMIM:612004 Gene [OrphaNum:123154 ; Name:Microtubule associated serine/threonine kinase-like ; Symbol:MASTL ; xref: GENATLAS:MASTL ; xref: HGNC:19042 ; xref: OMIM:608221 ; xref: UNIPROTKB/SWISSPROT:Q96GX5 ; xref: ENSEMBL:ENSG00000120539] Generalized basaloid follicular hamartoma syndrome Orphanet ID- 17790 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 OMIM:605827 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Heart-hand syndrome, Slovenian type Atrio-digital dysplasia, Slovenian type Cardiac conduction disease - dilated cardiomyopathy - brachydactyly Orphanet ID- 17793 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] ICD10:Q87.2 OMIM:610140 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 Atrio-digital dysplasia, Slovenian type Cardiac conduction disease - dilated cardiomyopathy - brachydactyly EXACT Cardiac conduction disease - dilated cardiomyopathy - brachydactyly EXACT Atrio-digital dysplasia, Slovenian type 45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY MGD 45,X0/46,XY MGD 45,X0/46,XY mixed gonadal dysgenesis ICD10:Q98.7 45,X0/46,XY mixed gonadal dysgenesis 45,X0/46,XY MGD 45,X/46,XY MGD Orphanet ID- 1780 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 Gene [OrphaNum:119865 ; Name:Sex determining region Y ; Symbol:SRY ; xref: GENATLAS:SRY ; xref: HGNC:11311 ; xref: OMIM:480000 ; xref: UNIPROTKB/SWISSPROT:Q05066 ; xref: ENSEMBL:ENSG00000184895] prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Sporadic; Gene [OrphaNum:285739 ; Name:Testis specific protein, Y-linked 1 ; Symbol:TSPY1 ; xref: ENSEMBL:ENSG00000258992 ; xref: GENATLAS:TSPY1 ; xref: UNIPROTKB/SWISSPROT:Q01534 ; xref: HGNC:12381 ; xref: OMIM:480100] EXACT 45,X/46,XY MGD EXACT 45,X0/46,XY mixed gonadal dysgenesis EXACT 45,X0/46,XY MGD Intellectual deficit, Kahrizi type Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency Intellectual deficit - cataract - coloboma - kyphosis Kahrizi syndrome SRD5A3-CDG Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency Gene [OrphaNum:242919 ; Name:Steroid 5 alpha-reductase 3 ; Symbol:SRD5A3 ; xref: GENATLAS:SRD5A3 ; xref: ENSEMBL:ENSG00000128039 ; xref: REACTOME:Q9H8P0 ; xref: HGNC:25812 ; xref: OMIM:611715 ; xref: UNIPROTKB/SWISSPROT:Q9H8P0] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168972 SRD5A3-CDG Intellectual deficit - cataract - coloboma - kyphosis Kahrizi syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:612713 Orphanet ID- 17808 EXACT SRD5A3-CDG EXACT Intellectual deficit - cataract - coloboma - kyphosis EXACT Kahrizi syndrome EXACT Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency CLAPO syndrome Orphanet ID- 17810 OMIM:613089 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 Severe combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation Orphanet ID- 17815 OMIM:611291 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:159501 ; Name:Nonhomologous end-joining factor 1 ; Symbol:NHEJ1 ; xref: GENATLAS:NHEJ1 ; xref: HGNC:25737 ; xref: OMIM:611290 ; xref: UNIPROTKB/SWISSPROT:Q9H9Q4 ; xref: ENSEMBL:ENSG00000187736] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 Combined immunodeficiency due to CD3gamma deficiency Gene [OrphaNum:201284 ; Name:CD3g molecule, gamma (CD3-TCR complex) ; Symbol:CD3G ; xref: ENSEMBL:ENSG00000160654 ; xref: REACTOME:P09693 ; xref: HGNC:1675 ; xref: OMIM:186740 ; xref: GENATLAS:CD3G ; xref: UNIPROTKB/SWISSPROT:P09693] Orphanet ID- 17816 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169082 OMIM:186740 Susceptibility to respiratory infections associated with CD8alpha chain mutation Familial CD8 deficiency OMIM:608957 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:221184 ; Name:CD8a molecule ; Symbol:CD8A ; xref: REACTOME:P01732 ; xref: ENSEMBL:ENSG00000153563 ; xref: GENATLAS:CD8A ; xref: HGNC:1706 ; xref: OMIM:186910 ; xref: UNIPROTKB/SWISSPROT:P01732] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169085 Familial CD8 deficiency Orphanet ID- 17817 EXACT Familial CD8 deficiency Severe combined immunodeficiency due to CRAC channel dysfunction Immune dysfunction due to T-cell inactivation due to calcium entry defect Gene [OrphaNum:201300 ; Name:Stromal interaction molecule 1 ; Symbol:STIM1 ; xref: REACTOME:Q13586 ; xref: ENSEMBL:ENSG00000167323 ; xref: GENATLAS:STIM1 ; xref: HGNC:11386 ; xref: OMIM:605921 ; xref: UNIPROTKB/SWISSPROT:Q13586] Immune dysfunction due to T-cell inactivation due to calcium entry defect Gene [OrphaNum:201295 ; Name:ORAI calcium release-activated calcium modulator 1 ; Symbol:ORAI1 ; xref: ENSEMBL:ENSG00000182500 ; xref: REACTOME:Q96D31 ; xref: HGNC:25896 ; xref: OMIM:610277 ; xref: GENATLAS:ORAI1 ; xref: UNIPROTKB/SWISSPROT:Q96D31] Orphanet ID- 17818 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:612782 OMIM:612783 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169090 EXACT Immune dysfunction due to T-cell inactivation due to calcium entry defect Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy Winged helix deficiency Winged helix deficiency OMIM:601705 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169095 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:183879 ; Name:Forkhead box N1 ; Symbol:FOXN1 ; xref: GENATLAS:FOXN1 ; xref: HGNC:12765 ; xref: OMIM:600838 ; xref: UNIPROTKB/SWISSPROT:O15353 ; xref: ENSEMBL:ENSG00000109101] Orphanet ID- 17819 EXACT Winged helix deficiency Temtamy syndrome Craniofacial dysmorphism - coloboma - corpus callosum agenesis Temtamy-Shalash syndrome ICD10:Q87.8 OMIM:218340 Craniofacial dysmorphism - coloboma - corpus callosum agenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Temtamy-Shalash syndrome Orphanet ID- 1782 EXACT Craniofacial dysmorphism - coloboma - corpus callosum agenesis EXACT Temtamy-Shalash syndrome Immunodeficiency due to CD25 deficiency Interleukin-2 receptor alpha chain deficiency Interleukin-2 receptor alpha chain deficiency Gene [OrphaNum:160265 ; Name:Interleukin 2 receptor, alpha ; Symbol:IL2RA ; xref: GENATLAS:IL2RA ; xref: HGNC:6008 ; xref: OMIM:147730 ; xref: UNIPROTKB/SWISSPROT:P01589 ; xref: ENSEMBL:ENSG00000134460 ; xref: REACTOME:P01589] OMIM:606367 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 Orphanet ID- 17820 EXACT Interleukin-2 receptor alpha chain deficiency Good syndrome Thymoma-immunodeficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169105 Orphanet ID- 17821 Thymoma-immunodeficiency prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; EXACT Thymoma-immunodeficiency Immunoglobulin heavy chain deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169110 Orphanet ID- 17822 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Transient hypogammaglobulinemia of infancy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169139 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17825 Recurrent infection due to specific granule deficiency Neutrophil-specific granule deficiency Orphanet ID- 17826 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169142 Neutrophil-specific granule deficiency prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:245480 Gene [OrphaNum:183890 ; Name:CCAAT/enhancer binding protein (C/EBP), epsilon ; Symbol:CEBPE ; xref: GENATLAS:CEBPE ; xref: HGNC:1836 ; xref: OMIM:600749 ; xref: UNIPROTKB/SWISSPROT:Q15744 ; xref: ENSEMBL:ENSG00000092067] EXACT Neutrophil-specific granule deficiency Immunodeficiency due to an early component of complement deficiency Immunodeficiency due to a C1, C4, or C2 component complement deficiency Gene [OrphaNum:119106 ; Name:Complement component 2 ; Symbol:C2 ; xref: GENATLAS:C2 ; xref: HGNC:1248 ; xref: OMIM:613927 ; xref: UNIPROTKB/SWISSPROT:P06681 ; xref: REACTOME:P06681 ; xref: ENSEMBL:ENSG00000166278] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169147 Gene [OrphaNum:118618 ; Name:Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) ; Symbol:SERPING1 ; xref: GENATLAS:SERPING1 ; xref: HGNC:1228 ; xref: OMIM:606860 ; xref: UNIPROTKB/SWISSPROT:P05155 ; xref: ENSEMBL:ENSG00000149131 ; xref: REACTOME:P05155] OMIM:217000 OMIM:614379 OMIM:613783 Gene [OrphaNum:160082 ; Name:Complement component 4B (Childo blood group) ; Symbol:C4B ; xref: GENATLAS:C4B ; xref: HGNC:1324 ; xref: OMIM:120820 ; xref: UNIPROTKB/SWISSPROT:P0C0L5 ; xref: ENSEMBL:ENSG00000224389 ; xref: REACTOME:P0C0L5] OMIM:216950 OMIM:614380 Immunodeficiency due to a C1, C4, or C2 component complement deficiency Gene [OrphaNum:221162 ; Name:Complement component 1, q subcomponent, A chain ; Symbol:C1QA ; xref: ENSEMBL:ENSG00000173372 ; xref: REACTOME:P02745 ; xref: GENATLAS:C1QA ; xref: HGNC:1241 ; xref: OMIM:120550 ; xref: UNIPROTKB/SWISSPROT:P02745] Orphanet ID- 17827 OMIM:613652 Gene [OrphaNum:221168 ; Name:Complement component 1, q subcomponent, C chain ; Symbol:C1QC ; xref: ENSEMBL:ENSG00000159189 ; xref: REACTOME:P02747 ; xref: GENATLAS:C1QC ; xref: HGNC:1245 ; xref: OMIM:120575 ; xref: UNIPROTKB/SWISSPROT:P02747] Gene [OrphaNum:221171 ; Name:Complement component 1, s subcomponent ; Symbol:C1S ; xref: ENSEMBL:ENSG00000182326 ; xref: REACTOME:P09871 ; xref: GENATLAS:C1S ; xref: HGNC:1247 ; xref: OMIM:120580 ; xref: UNIPROTKB/SWISSPROT:P09871] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:120790 Gene [OrphaNum:160067 ; Name:Complement component 4A (Rodgers blood group) ; Symbol:C4A ; xref: GENATLAS:C4A ; xref: HGNC:1323 ; xref: OMIM:120810 ; xref: UNIPROTKB/SWISSPROT:P0C0L4 ; xref: REACTOME:P0C0L4 ; xref: ENSEMBL:ENSG00000206340] Gene [OrphaNum:221166 ; Name:Complement component 1, q subcomponent, B chain ; Symbol:C1QB ; xref: ENSEMBL:ENSG00000173369 ; xref: REACTOME:P02746 ; xref: GENATLAS:C1QB ; xref: HGNC:1242 ; xref: OMIM:120570 ; xref: UNIPROTKB/SWISSPROT:P02746] EXACT Immunodeficiency due to a C1, C4, or C2 component complement deficiency Immunodeficiency due to a late component of complements deficiency Deficiency of complement of terminal pathway Immunodeficiency due to a C5 to C9 component complement deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169150 Gene [OrphaNum:160093 ; Name:Complement component 5 ; Symbol:C5 ; xref: GENATLAS:C5 ; xref: HGNC:1331 ; xref: OMIM:120900 ; xref: UNIPROTKB/SWISSPROT:P01031 ; xref: ENSEMBL:ENSG00000106804 ; xref: REACTOME:P01031] Gene [OrphaNum:160112 ; Name:Complement component 7 ; Symbol:C7 ; xref: GENATLAS:C7 ; xref: HGNC:1346 ; xref: OMIM:217070 ; xref: UNIPROTKB/SWISSPROT:P10643 ; xref: ENSEMBL:ENSG00000112936 ; xref: REACTOME:P10643] Gene [OrphaNum:160126 ; Name:Complement component 9 ; Symbol:C9 ; xref: GENATLAS:C9 ; xref: HGNC:1358 ; xref: OMIM:120940 ; xref: UNIPROTKB/SWISSPROT:P02748 ; xref: ENSEMBL:ENSG00000113600 ; xref: REACTOME:P02748] Gene [OrphaNum:160119 ; Name:Complement component 8, beta polypeptide ; Symbol:C8B ; xref: UNIPROTKB/SWISSPROT:P07358 ; xref: GENATLAS:C8B ; xref: HGNC:1353 ; xref: OMIM:120960 ; xref: ENSEMBL:ENSG00000021852 ; xref: REACTOME:P07358] Gene [OrphaNum:160117 ; Name:Complement component 8, alpha polypeptide ; Symbol:C8A ; xref: GENATLAS:C8A ; xref: HGNC:1352 ; xref: OMIM:120950 ; xref: UNIPROTKB/SWISSPROT:P07357 ; xref: ENSEMBL:ENSG00000157131 ; xref: REACTOME:P07357] OMIM:613825 Immunodeficiency due to a C5 to C9 component complement deficiency OMIM:613790 OMIM:120940 OMIM:613789 OMIM:609536 Deficiency of complement of terminal pathway Orphanet ID- 17828 Gene [OrphaNum:160121 ; Name:Complement component 8, gamma polypeptide ; Symbol:C8G ; xref: GENATLAS:C8G ; xref: HGNC:1354 ; xref: OMIM:120930 ; xref: UNIPROTKB/SWISSPROT:P07360 ; xref: ENSEMBL:ENSG00000176919 ; xref: REACTOME:P07360] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:612446 OMIM:610102 Gene [OrphaNum:160107 ; Name:Complement component 6 ; Symbol:C6 ; xref: GENATLAS:C6 ; xref: HGNC:1339 ; xref: OMIM:217050 ; xref: UNIPROTKB/SWISSPROT:P13671 ; xref: ENSEMBL:ENSG00000039537 ; xref: REACTOME:P13671] EXACT Deficiency of complement of terminal pathway EXACT Immunodeficiency due to a C5 to C9 component complement deficiency Severe combined immunodeficiency T- B+ due to IL-7Ralpha deficiency Orphanet ID- 17829 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169154 OMIM:608971 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:159734 ; Name:Interleukin 7 receptor ; Symbol:IL7R ; xref: GENATLAS:IL7R ; xref: HGNC:6024 ; xref: OMIM:146661 ; xref: UNIPROTKB/SWISSPROT:P16871 ; xref: ENSEMBL:ENSG00000168685 ; xref: REACTOME:P16871] Severe combined immunodeficiency T- B+ due to CD45 deficiency Gene [OrphaNum:118151 ; Name:Protein tyrosine phosphatase, receptor type, C ; Symbol:PTPRC ; xref: GENATLAS:PTPRC ; xref: HGNC:9666 ; xref: OMIM:151460 ; xref: UNIPROTKB/SWISSPROT:P08575 ; xref: ENSEMBL:ENSG00000081237 ; xref: REACTOME:P08575] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169157 OMIM:608971 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17830 Severe combined immunodeficiency T- B+ due to CD3delta/CD3epsilon/CD3zeta OMIM:608971 Gene [OrphaNum:159200 ; Name:CD3e molecule, epsilon (CD3-TCR complex) ; Symbol:CD3E ; xref: GENATLAS:CD3E ; xref: HGNC:1674 ; xref: OMIM:186830 ; xref: UNIPROTKB/SWISSPROT:P07766 ; xref: ENSEMBL:ENSG00000198851 ; xref: REACTOME:P07766] Gene [OrphaNum:226144 ; Name:CD247 molecule ; Symbol:CD247 ; xref: GENATLAS:CD247 ; xref: HGNC:1677 ; xref: OMIM:186780 ; xref: UNIPROTKB/SWISSPROT:P20963 ; xref: ENSEMBL:ENSG00000198821 ; xref: REACTOME:P20963] OMIM:610163 Orphanet ID- 17831 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:159197 ; Name:CD3d molecule, delta (CD3-TCR complex) ; Symbol:CD3D ; xref: GENATLAS:CD3D ; xref: HGNC:1673 ; xref: OMIM:186790 ; xref: UNIPROTKB/SWISSPROT:P04234 ; xref: ENSEMBL:ENSG00000167286 ; xref: REACTOME:P04234] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169160 Familial scaphocephaly syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17832 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163 Autosomal recessive centronuclear myopathy AR-CNM AR-CNM Orphanet ID- 17833 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 Gene [OrphaNum:139150 ; Name:Bridging integrator 1 ; Symbol:BIN1 ; xref: GENATLAS:BIN1 ; xref: HGNC:1052 ; xref: OMIM:601248 ; xref: UNIPROTKB/SWISSPROT:O00499 ; xref: ENSEMBL:ENSG00000136717] ICD10:G71.2 OMIM:255200 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT AR-CNM Autosomal dominant centronuclear myopathy AD-CNM Gene [OrphaNum:121147 ; Name:Dynamin 2 ; Symbol:DNM2 ; xref: GENATLAS:DNM2 ; xref: HGNC:2974 ; xref: OMIM:602378 ; xref: UNIPROTKB/SWISSPROT:P50570 ; xref: REACTOME:P50570 ; xref: ENSEMBL:ENSG00000079805] OMIM:614408 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 Orphanet ID- 17834 AD-CNM ICD10:G71.2 Gene [OrphaNum:123603 ; Name:Myogenic factor 6 (herculin) ; Symbol:MYF6 ; xref: GENATLAS:MYF6 ; xref: HGNC:7566 ; xref: OMIM:159991 ; xref: UNIPROTKB/SWISSPROT:P23409 ; xref: ENSEMBL:ENSG00000111046 ; xref: REACTOME:P23409] Gene [OrphaNum:118437 ; Name:Ryanodine receptor 1 (skeletal) ; Symbol:RYR1 ; xref: UNIPROTKB/SWISSPROT:P21817 ; xref: GENATLAS:RYR1 ; xref: HGNC:10483 ; xref: OMIM:180901 ; xref: ENSEMBL:ENSG00000196218] Gene [OrphaNum:139178 ; Name:Myotubularin related protein 14 ; Symbol:MTMR14 ; xref: GENATLAS:MTMR14 ; xref: HGNC:26190 ; xref: OMIM:611089 ; xref: UNIPROTKB/SWISSPROT:Q8NCE2 ; xref: ENSEMBL:ENSG00000163719] OMIM:160150 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT AD-CNM DNA repair defect other than combined T-cell and B-cell immunodeficiencies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17836 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169346 Immuno-osseous dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17837 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169349 Immunodeficiency syndrome with autoimmunity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169355 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17839 Dysosteosclerosis Orphanet ID- 1784 ICD10:Q78.8 OMIM:224300 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 Immune dysregulation disease with immunodeficiency Orphanet ID- 17841 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169361 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17856 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169443 Autosomal recessive hyper IgE syndrome Autosomal recessive HIES Hyperimmunoglobulin E syndrome type 2 Nonskeletal hyper IgE syndrome Autosomal recessive HIES prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Hyperimmunoglobulin E syndrome type 2 OMIM:243700 Orphanet ID- 17857 Gene [OrphaNum:159075 ; Name:Tyrosine kinase 2 ; Symbol:TYK2 ; xref: ENSEMBL:ENSG00000105397 ; xref: REACTOME:P29597 ; xref: GENATLAS:TYK2 ; xref: HGNC:12440 ; xref: OMIM:176941 ; xref: UNIPROTKB/SWISSPROT:P29597] Gene [OrphaNum:220922 ; Name:Dedicator of cytokinesis 8 ; Symbol:DOCK8 ; xref: ENSEMBL:ENSG00000107099 ; xref: REACTOME:Q8NF50 ; xref: GENATLAS:DOCK8 ; xref: HGNC:19191 ; xref: OMIM:611432 ; xref: UNIPROTKB/SWISSPROT:Q8NF50] OMIM:611521 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169446 Nonskeletal hyper IgE syndrome EXACT Autosomal recessive HIES EXACT Nonskeletal hyper IgE syndrome EXACT Hyperimmunoglobulin E syndrome type 2 Acro-fronto-facio-nasal dysostosis Richieri-Costa-Colletto syndrome Richieri-Costa-Colletto syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784 Orphanet ID- 1786 ICD10:Q75.1 OMIM:201180 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.0 EXACT Richieri-Costa-Colletto syndrome CD59 deficiency OMIM:612300 Orphanet ID- 17863 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:221173 ; Name:CD59 molecule, complement regulatory protein ; Symbol:CD59 ; xref: ENSEMBL:ENSG00000085063 ; xref: GENATLAS:CD59 ; xref: HGNC:1689 ; xref: OMIM:107271 ; xref: UNIPROTKB/SWISSPROT:P13987] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 Recurrent Neisseria infections due to factor D deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169467 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:221187 ; Name:Complement factor D (adipsin) ; Symbol:CFD ; xref: REACTOME:P00746 ; xref: ENSEMBL:ENSG00000197766 ; xref: GENATLAS:CFD ; xref: HGNC:2771 ; xref: OMIM:134350 ; xref: UNIPROTKB/SWISSPROT:P00746] Orphanet ID- 17864 OMIM:613912 Idiopathic central precocious puberty prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169615 Orphanet ID- 17866 Secondary central precocious puberty Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169618 Orphanet ID- 17867 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Severe hemophilia B Severe factor IX deficiency ICD10:D67 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 Gene [OrphaNum:121683 ; Name:Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) ; Symbol:F9 ; xref: GENATLAS:F9 ; xref: HGNC:3551 ; xref: OMIM:300746 ; xref: UNIPROTKB/SWISSPROT:P00740 ; xref: ENSEMBL:ENSG00000101981 ; xref: REACTOME:P00740] Severe factor IX deficiency Orphanet ID- 17869 OMIM:306900 EXACT Severe factor IX deficiency Moderately severe hemophilia B Moderately severe factor IX deficiency Gene [OrphaNum:121683 ; Name:Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) ; Symbol:F9 ; xref: GENATLAS:F9 ; xref: HGNC:3551 ; xref: OMIM:300746 ; xref: UNIPROTKB/SWISSPROT:P00740 ; xref: ENSEMBL:ENSG00000101981 ; xref: REACTOME:P00740] Moderately severe factor IX deficiency OMIM:306900 Orphanet ID- 17870 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 ICD10:D67 EXACT Moderately severe factor IX deficiency Mild hemophilia B Mild factor IX deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:121683 ; Name:Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) ; Symbol:F9 ; xref: GENATLAS:F9 ; xref: HGNC:3551 ; xref: OMIM:300746 ; xref: UNIPROTKB/SWISSPROT:P00740 ; xref: ENSEMBL:ENSG00000101981 ; xref: REACTOME:P00740] Orphanet ID- 17871 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 OMIM:306900 Mild factor IX deficiency ICD10:D67 EXACT Mild factor IX deficiency Severe hemophilia A Severe factor VIII deficiency OMIM:306700 Severe factor VIII deficiency Gene [OrphaNum:121677 ; Name:Coagulation factor VIII, procoagulant component (hemophilia A) ; Symbol:F8 ; xref: GENATLAS:F8 ; xref: HGNC:3546 ; xref: UNIPROTKB/SWISSPROT:P00451 ; xref: OMIM:300841 ; xref: REACTOME:P00451 ; xref: ENSEMBL:ENSG00000185010] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:D66 Orphanet ID- 17872 EXACT Severe factor VIII deficiency Moderately severe hemophilia A Moderately severe factor VIII deficiency ICD10:D66 Orphanet ID- 17873 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Moderately severe factor VIII deficiency OMIM:306700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 Gene [OrphaNum:121677 ; Name:Coagulation factor VIII, procoagulant component (hemophilia A) ; Symbol:F8 ; xref: GENATLAS:F8 ; xref: HGNC:3546 ; xref: UNIPROTKB/SWISSPROT:P00451 ; xref: OMIM:300841 ; xref: REACTOME:P00451 ; xref: ENSEMBL:ENSG00000185010] EXACT Moderately severe factor VIII deficiency Mild hemophilia A Mild factor VIII deficiency prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:121677 ; Name:Coagulation factor VIII, procoagulant component (hemophilia A) ; Symbol:F8 ; xref: GENATLAS:F8 ; xref: HGNC:3546 ; xref: UNIPROTKB/SWISSPROT:P00451 ; xref: OMIM:300841 ; xref: REACTOME:P00451 ; xref: ENSEMBL:ENSG00000185010] ICD10:D66 Orphanet ID- 17874 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 Mild factor VIII deficiency OMIM:306700 EXACT Mild factor VIII deficiency Congenital vitamin K-dependent coagulation factors deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826 Orphanet ID- 17875 Acrofacial dysostosis, Catania type Opitz-Caltabiano syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 Orphanet ID- 1788 OMIM:101805 ICD10:Q75.4 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant; Opitz-Caltabiano syndrome EXACT Opitz-Caltabiano syndrome Acrofacial dysostosis, Rodriguez type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 Orphanet ID- 1789 ICD10:Q75.4 OMIM:201170 Hypomandibular faciocranial dysostosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; ICD10:Q75.4 OMIM:241310 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 Orphanet ID- 1790 High anorectal malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17901 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171201 Intermediate anorectal malformation Orphanet ID- 17902 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171208 Low anorectal malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17903 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171215 Rectal duplication Orphanet ID- 17904 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220 ICD10:Q43.4 Severe congenital nemaline myopathy Gene [OrphaNum:117750 ; Name:Actin, alpha 1, skeletal muscle ; Symbol:ACTA1 ; xref: GENATLAS:ACTA1 ; xref: HGNC:129 ; xref: OMIM:102610 ; xref: UNIPROTKB/SWISSPROT:P68133 ; xref: ENSEMBL:ENSG00000143632 ; xref: REACTOME:P68133] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Orphanet ID- 17906 Gene [OrphaNum:123749 ; Name:Nebulin ; Symbol:NEB ; xref: GENATLAS:NEB ; xref: HGNC:7720 ; xref: OMIM:161650 ; xref: UNIPROTKB/SWISSPROT:P20929 ; xref: ENSEMBL:ENSG00000183091 ; xref: REACTOME:P20929] ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 Intermediate nemaline myopathy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:G71.2 Gene [OrphaNum:123749 ; Name:Nebulin ; Symbol:NEB ; xref: GENATLAS:NEB ; xref: HGNC:7720 ; xref: OMIM:161650 ; xref: UNIPROTKB/SWISSPROT:P20929 ; xref: ENSEMBL:ENSG00000183091 ; xref: REACTOME:P20929] Gene [OrphaNum:117750 ; Name:Actin, alpha 1, skeletal muscle ; Symbol:ACTA1 ; xref: GENATLAS:ACTA1 ; xref: HGNC:129 ; xref: OMIM:102610 ; xref: UNIPROTKB/SWISSPROT:P68133 ; xref: ENSEMBL:ENSG00000143632 ; xref: REACTOME:P68133] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 Gene [OrphaNum:120227 ; Name:Tropomyosin 3 ; Symbol:TPM3 ; xref: GENATLAS:TPM3 ; xref: HGNC:12012 ; xref: OMIM:191030 ; xref: UNIPROTKB/SWISSPROT:P06753 ; xref: REACTOME:P06753 ; xref: ENSEMBL:ENSG00000143549] Orphanet ID- 17907 Typical nemaline myopathy ICD10:G71.2 Gene [OrphaNum:123749 ; Name:Nebulin ; Symbol:NEB ; xref: GENATLAS:NEB ; xref: HGNC:7720 ; xref: OMIM:161650 ; xref: UNIPROTKB/SWISSPROT:P20929 ; xref: ENSEMBL:ENSG00000183091 ; xref: REACTOME:P20929] Gene [OrphaNum:120223 ; Name:Tropomyosin 2 (beta) ; Symbol:TPM2 ; xref: GENATLAS:TPM2 ; xref: HGNC:12011 ; xref: OMIM:190990 ; xref: UNIPROTKB/SWISSPROT:P07951 ; xref: ENSEMBL:ENSG00000198467 ; xref: REACTOME:P07951] Gene [OrphaNum:117750 ; Name:Actin, alpha 1, skeletal muscle ; Symbol:ACTA1 ; xref: GENATLAS:ACTA1 ; xref: HGNC:129 ; xref: OMIM:102610 ; xref: UNIPROTKB/SWISSPROT:P68133 ; xref: ENSEMBL:ENSG00000143632 ; xref: REACTOME:P68133] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 17908 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 Mild nemaline myopathy Childhood-onset nemaline myopathy Gene [OrphaNum:120227 ; Name:Tropomyosin 3 ; Symbol:TPM3 ; xref: GENATLAS:TPM3 ; xref: HGNC:12012 ; xref: OMIM:191030 ; xref: UNIPROTKB/SWISSPROT:P06753 ; xref: REACTOME:P06753 ; xref: ENSEMBL:ENSG00000143549] Gene [OrphaNum:120223 ; Name:Tropomyosin 2 (beta) ; Symbol:TPM2 ; xref: GENATLAS:TPM2 ; xref: HGNC:12011 ; xref: OMIM:190990 ; xref: UNIPROTKB/SWISSPROT:P07951 ; xref: ENSEMBL:ENSG00000198467 ; xref: REACTOME:P07951] ICD10:G71.2 Orphanet ID- 17909 Gene [OrphaNum:123749 ; Name:Nebulin ; Symbol:NEB ; xref: GENATLAS:NEB ; xref: HGNC:7720 ; xref: OMIM:161650 ; xref: UNIPROTKB/SWISSPROT:P20929 ; xref: ENSEMBL:ENSG00000183091 ; xref: REACTOME:P20929] Childhood-onset nemaline myopathy prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:117750 ; Name:Actin, alpha 1, skeletal muscle ; Symbol:ACTA1 ; xref: GENATLAS:ACTA1 ; xref: HGNC:129 ; xref: OMIM:102610 ; xref: UNIPROTKB/SWISSPROT:P68133 ; xref: ENSEMBL:ENSG00000143632 ; xref: REACTOME:P68133] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 EXACT Childhood-onset nemaline myopathy Adult onset nemaline myopathy ICD10:G71.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Sporadic; Orphanet ID- 17910 Muscle filaminopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17911 OMIM:609524 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 ICD10:G71.8 Gene [OrphaNum:121867 ; Name:Filamin C, gamma (actin binding protein 280) ; Symbol:FLNC ; xref: GENATLAS:FLNC ; xref: HGNC:3756 ; xref: OMIM:102565 ; xref: UNIPROTKB/SWISSPROT:Q14315 ; xref: ENSEMBL:ENSG00000128591 ; xref: REACTOME:Q14315] X-linked spastic paraplegia type 34 SPG34 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 Gene [OrphaNum:180324 ; Name:Spastic paraplegia 34 (autosomal dominant) ; Symbol:SPG34 ; xref: HGNC:32944 ; xref: OMIM:300750] Orphanet ID- 17912 ICD10:G11.4 SPG34 OMIM:300750 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT SPG34 Autosomal dominant spastic paraplegia type 37 SPG37 OMIM:611945 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G11.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 SPG37 Gene [OrphaNum:180240 ; Name:Spastic paraplegia 37 (autosomal dominant) ; Symbol:SPG37 ; xref: HGNC:33472 ; xref: OMIM:611945] Orphanet ID- 17913 EXACT SPG37 Autosomal dominant spastic paraplegia type 38 SPG38 OMIM:612335 Gene [OrphaNum:180245 ; Name:Spastic paraplegia 38 (autosomal dominant, Silver syndrome) ; Symbol:SPG38 ; xref: HGNC:33485 ; xref: OMIM:612335] SPG38 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G11.4 Orphanet ID- 17914 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 EXACT SPG38 Autosomal recessive spastic paraplegia type 32 SPG32 OMIM:611252 Orphanet ID- 17915 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 Gene [OrphaNum:180318 ; Name:Spastic paraplegia 32 (autosomal recessive) ; Symbol:SPG32 ; xref: HGNC:32314 ; xref: OMIM:611252] ICD10:G11.4 SPG32 EXACT SPG32 Autosomal recessive spastic paraplegia type 35 SPG35 SPG35 Gene [OrphaNum:178127 ; Name:Fatty acid 2-hydroxylase ; Symbol:FA2H ; xref: GENATLAS:FA2H ; xref: HGNC:21197 ; xref: OMIM:611026 ; xref: UNIPROTKB/SWISSPROT:Q7L5A8 ; xref: ENSEMBL:ENSG00000103089] OMIM:612319 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 Orphanet ID- 17916 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G11.4 EXACT SPG35 Lissencephaly due to TUBA1A mutation prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; OMIM:611603 Orphanet ID- 17925 ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 Gene [OrphaNum:159394 ; Name:Tubulin, alpha 1a ; Symbol:TUBA1A ; xref: GENATLAS:TUBA1A ; xref: HGNC:20766 ; xref: OMIM:602529 ; xref: UNIPROTKB/SWISSPROT:Q71U36 ; xref: REACTOME:Q71U36 ; xref: ENSEMBL:ENSG00000167552] Metabolic myopathy due to lactate transporter defect Erythrocyte lactate transporter defect Gene [OrphaNum:168122 ; Name:Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) ; Symbol:SLC16A1 ; xref: GENATLAS:SLC16A1 ; xref: HGNC:10922 ; xref: OMIM:600682 ; xref: UNIPROTKB/SWISSPROT:P53985 ; xref: ENSEMBL:ENSG00000155380 ; xref: REACTOME:P53985] Orphanet ID- 17927 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Erythrocyte lactate transporter defect OMIM:245340 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 EXACT Erythrocyte lactate transporter defect Parkinsonian-pyramidal syndrome Pallidopyramidal syndrome Orphanet ID- 17928 ICD10:G20 OMIM:260300 Gene [OrphaNum:181111 ; Name:F-box protein 7 ; Symbol:FBXO7 ; xref: GENATLAS:FBXO7 ; xref: HGNC:13586 ; xref: OMIM:605648 ; xref: UNIPROTKB/SWISSPROT:Q9Y3I1 ; xref: ENSEMBL:ENSG00000100225] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:168100 Pallidopyramidal syndrome EXACT Pallidopyramidal syndrome Oculomaxillofacial dysostosis Richieri-Costa-Gorlin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 OMIM:600251 Richieri-Costa-Gorlin syndrome Orphanet ID- 1793 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Richieri-Costa-Gorlin syndrome Microcephaly - polymicrogyria - corpus callosum agenesis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:181116 ; Name:Eomesodermin homolog (Xenopus laevis) ; Symbol:EOMES ; xref: GENATLAS:EOMES ; xref: HGNC:3372 ; xref: OMIM:604615 ; xref: UNIPROTKB/SWISSPROT:O95936 ; xref: ENSEMBL:ENSG00000163508] Orphanet ID- 17930 ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 Short stature-delayed bone age due to thyroid hormone metabolism deficiency Gene [OrphaNum:181119 ; Name:SECIS binding protein 2 ; Symbol:SECISBP2 ; xref: GENATLAS:SECISBP2 ; xref: HGNC:30972 ; xref: OMIM:607693 ; xref: UNIPROTKB/SWISSPROT:Q96T21 ; xref: ENSEMBL:ENSG00000187742] ICD10:E03.8 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17931 OMIM:609698 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706 Globozoospermia Round-headed spermatozoa OMIM:613958 Round-headed spermatozoa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171709 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:102530 Orphanet ID- 17932 Gene [OrphaNum:265487 ; Name:dpy-19-like 2 (C. elegans) ; Symbol:DPY19L2 ; xref: ENSEMBL:ENSG00000177990 ; xref: OMIM:613893 ; xref: HGNC:19414 ; xref: GENATLAS:DPY19L2 ; xref: UNIPROTKB/SWISSPROT:Q6NUT2] Gene [OrphaNum:181121 ; Name:Spermatogenesis associated 16 ; Symbol:SPATA16 ; xref: GENATLAS:SPATA16 ; xref: HGNC:29935 ; xref: OMIM:609856 ; xref: UNIPROTKB/SWISSPROT:Q0R2U2 ; xref: ENSEMBL:ENSG00000144962] EXACT Round-headed spermatozoa Amish infantile epilepsy syndrome GM3 synthase deficiency infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness OMIM:609056 GM3 synthase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171714 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 17933 Gene [OrphaNum:181124 ; Name:ST3 beta-galactoside alpha-2,3-sialyltransferase 5 ; Symbol:ST3GAL5 ; xref: GENATLAS:ST3GAL5 ; xref: HGNC:10872 ; xref: OMIM:604402 ; xref: UNIPROTKB/SWISSPROT:Q9UNP4 ; xref: ENSEMBL:ENSG00000115525] EXACT GM3 synthase deficiency EXACT infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness Cutis laxa-Marfanoid syndrome Orphanet ID- 17934 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719 OMIM:614100 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; White sponge nevus Hereditary mucosal leukokeratosis White sponge nevus of Cannon Hereditary mucosal leukokeratosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:193900 Orphanet ID- 17935 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 Gene [OrphaNum:181140 ; Name:Keratin 13 ; Symbol:KRT13 ; xref: ENSEMBL:ENSG00000171401 ; xref: GENATLAS:KRT13 ; xref: HGNC:6415 ; xref: OMIM:148065 ; xref: UNIPROTKB/SWISSPROT:P13646] White sponge nevus of Cannon Gene [OrphaNum:181135 ; Name:Keratin 4 ; Symbol:KRT4 ; xref: ENSEMBL:ENSG00000170477 ; xref: GENATLAS:KRT4 ; xref: HGNC:6441 ; xref: OMIM:123940 ; xref: UNIPROTKB/SWISSPROT:P19013] EXACT Hereditary mucosal leukokeratosis EXACT White sponge nevus of Cannon Deletion 6q16 syndrome Del(6)(q16) Monosomy 6q16 Prader-Willi-like syndrome due to deletion 6q16 Gene [OrphaNum:158398 ; Name:Single-minded homolog 1 (Drosophila) ; Symbol:SIM1 ; xref: GENATLAS:SIM1 ; xref: HGNC:10882 ; xref: OMIM:603128 ; xref: UNIPROTKB/SWISSPROT:P81133 ; xref: ENSEMBL:ENSG00000112246] ICD10:Q93.5 Del(6)(q16) Prader-Willi-like syndrome due to deletion 6q16 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Monosomy 6q16 Orphanet ID- 17936 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 EXACT Del(6)(q16) EXACT Monosomy 6q16 EXACT Prader-Willi-like syndrome due to deletion 6q16 Amelogenesis imperfecta and gingival hyperplasia syndrome Orphanet ID- 17937 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171836 Gene [OrphaNum:269646 ; Name:family with sequence similarity 20, member A ; Symbol:FAM20A ; xref: ENSEMBL:ENSG00000108950 ; xref: HGNC:23015 ; xref: OMIM:611062 ; xref: GENATLAS:FAM20A ; xref: UNIPROTKB/SWISSPROT:Q96MK3] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:K00.5 OMIM:614253 Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis Berant syndrome Capra-DeMarco syndrome Familial scaphocephaly - radioulnar synostosis Familial scaphocephaly - radioulnar synostosis Berant syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 Capra-DeMarco syndrome prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17938 EXACT Capra-DeMarco syndrome EXACT Familial scaphocephaly - radioulnar synostosis EXACT Berant syndrome Blindness - scoliosis - arachnodactyly prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 Orphanet ID- 17939 OMIM:612445 Dysostosis, Stanescu type Autosomal dominant osteosclerosis, Stanescu type Craniofacial dysostosis - diaphyseal hyperplasia Stanescu osteosclerosis Autosomal dominant osteosclerosis, Stanescu type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798 OMIM:122900 Orphanet ID- 1794 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Stanescu osteosclerosis ICD10:Q78.8 Craniofacial dysostosis - diaphyseal hyperplasia EXACT Stanescu osteosclerosis EXACT Craniofacial dysostosis - diaphyseal hyperplasia EXACT Autosomal dominant osteosclerosis, Stanescu type Peripheral neuropathy, Fiskerstrand type PHARC Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract Gene [OrphaNum:239970 ; Name:Abhydrolase domain containing 12 ; Symbol:ABHD12 ; xref: OMIM:613599 ; xref: GENATLAS:ABHD12 ; xref: HGNC:15868 ; xref: UNIPROTKB/SWISSPROT:Q8N2K0 ; xref: ENSEMBL:ENSG00000100997] Orphanet ID- 17940 OMIM:612674 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 PHARC Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract EXACT Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract EXACT PHARC MEDNIK syndrome Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia Gene [OrphaNum:178120 ; Name:Adaptor-related protein complex 1, sigma 1 subunit ; Symbol:AP1S1 ; xref: GENATLAS:AP1S1 ; xref: HGNC:559 ; xref: REACTOME:P61966 ; xref: OMIM:603531 ; xref: UNIPROTKB/SWISSPROT:P61966 ; xref: ENSEMBL:ENSG00000106367] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 Orphanet ID- 17941 EXACT Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia Leukodystrophy - spastic paraplegia - dystonia ICD10:E75.2 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:612319 Gene [OrphaNum:178127 ; Name:Fatty acid 2-hydroxylase ; Symbol:FA2H ; xref: GENATLAS:FA2H ; xref: HGNC:21197 ; xref: OMIM:611026 ; xref: UNIPROTKB/SWISSPROT:Q7L5A8 ; xref: ENSEMBL:ENSG00000103089] Orphanet ID- 17943 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171857 Intellectual deficit - cataracts - kyphosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171860 Orphanet ID- 17944 Autosomal dominant spastic paraplegia type 42 SPG42 Orphanet ID- 17945 SPG42 ICD10:G11.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 OMIM:612539 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:180215 ; Name:Solute carrier family 33 (acetyl-CoA transporter), member 1 ; Symbol:SLC33A1 ; xref: ENSEMBL:ENSG00000169359 ; xref: GENATLAS:SLC33A1 ; xref: HGNC:95 ; xref: OMIM:603690 ; xref: UNIPROTKB/SWISSPROT:O00400 ; xref: REACTOME:O00400] EXACT SPG42 Spondyloepimetaphyseal dysplasia, aggrecan type SEMD, aggrecan type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:612813 SEMD, aggrecan type Gene [OrphaNum:117718 ; Name:Aggrecan ; Symbol:ACAN ; xref: GENATLAS:ACAN ; xref: HGNC:319 ; xref: OMIM:155760 ; xref: UNIPROTKB/SWISSPROT:P16112 ; xref: ENSEMBL:ENSG00000157766] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 Orphanet ID- 17946 ICD10:Q77.7 EXACT SEMD, aggrecan type Renal pseudohypoaldosteronism type 1 Autosomal dominant pseudohypoaldosteronism type 1 Orphanet ID- 17947 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871 OMIM:177735 Autosomal dominant pseudohypoaldosteronism type 1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:123920 ; Name:Nuclear receptor subfamily 3, group C, member 2 ; Symbol:NR3C2 ; xref: GENATLAS:NR3C2 ; xref: HGNC:7979 ; xref: OMIM:600983 ; xref: UNIPROTKB/SWISSPROT:P08235 ; xref: IUPHAR:626 ; xref: ENSEMBL:ENSG00000151623 ; xref: REACTOME:P08235] EXACT Autosomal dominant pseudohypoaldosteronism type 1 Generalized pseudohypoaldosteronism type 1 Autosomal recessive pseudohypoaldosteronism type 1 Autosomal recessive pseudohypoaldosteronism type 1 Gene [OrphaNum:118536 ; Name:Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) ; Symbol:SCNN1B ; xref: GENATLAS:SCNN1B ; xref: HGNC:10600 ; xref: OMIM:600760 ; xref: UNIPROTKB/SWISSPROT:P51168 ; xref: ENSEMBL:ENSG00000168447] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:264350 Orphanet ID- 17948 Gene [OrphaNum:118532 ; Name:Sodium channel, nonvoltage-gated 1 alpha ; Symbol:SCNN1A ; xref: UNIPROTKB/SWISSPROT:P37088 ; xref: GENATLAS:SCNN1A ; xref: HGNC:10599 ; xref: OMIM:600228 ; xref: ENSEMBL:ENSG00000111319] Gene [OrphaNum:118539 ; Name:Sodium channel, nonvoltage-gated 1, gamma ; Symbol:SCNN1G ; xref: GENATLAS:SCNN1G ; xref: HGNC:10602 ; xref: OMIM:600761 ; xref: UNIPROTKB/SWISSPROT:P51170 ; xref: ENSEMBL:ENSG00000166828] EXACT Autosomal recessive pseudohypoaldosteronism type 1 Cap myopathy Cap disease ICD10:G71.2 Orphanet ID- 17949 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 OMIM:609285 Cap disease Gene [OrphaNum:120223 ; Name:Tropomyosin 2 (beta) ; Symbol:TPM2 ; xref: GENATLAS:TPM2 ; xref: HGNC:12011 ; xref: OMIM:190990 ; xref: UNIPROTKB/SWISSPROT:P07951 ; xref: ENSEMBL:ENSG00000198467 ; xref: REACTOME:P07951] EXACT Cap disease Cylindrical spirals myopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886 Orphanet ID- 17950 Myopathy with hexagonally cross-linked tubular arrays Orphanet ID- 17951 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Trisomy 10p prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17957 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929 ICD10:Q92.2 Congenital myopathy with cores Orphanet ID- 17959 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172976 Kyphomelic dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1797 OMIM:211350 Ghosal hematodiaphyseal dysplasia Diaphyseal dysplasia - anemia Ghosal syndrome Orphanet ID- 1798 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:137959 ; Name:Thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) ; Symbol:TBXAS1 ; xref: GENATLAS:TBXAS1 ; xref: HGNC:11609 ; xref: OMIM:274180 ; xref: UNIPROTKB/SWISSPROT:P24557 ; xref: ENSEMBL:ENSG00000059377 ; xref: REACTOME:P24557] Ghosal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 OMIM:231095 Diaphyseal dysplasia - anemia EXACT Diaphyseal dysplasia - anemia EXACT Ghosal syndrome Congenital hypogonadotropic hypogonadism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 Orphanet ID- 17985 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare adult hypothyroidism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177101 Orphanet ID- 17989 Thoracomelic dysplasia Rivera-Perez-Salas syndrome Orphanet ID- 1799 ICD10:Q77.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 OMIM:273740 Rivera-Perez-Salas syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Rivera-Perez-Salas syndrome Syndromic hypothyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17991 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 Orphanet ID- 17992 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 ICD10:Q87.1 Orphanet ID- 17993 Prader-Willi syndrome due to translocation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17994 ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 Prader-Willi syndrome due to imprinting mutation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17995 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 ICD10:Q87.1 Symptomatic form of hemophilia A in female carriers ICD10:D66 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:121677 ; Name:Coagulation factor VIII, procoagulant component (hemophilia A) ; Symbol:F8 ; xref: GENATLAS:F8 ; xref: HGNC:3546 ; xref: UNIPROTKB/SWISSPROT:P00451 ; xref: OMIM:300841 ; xref: REACTOME:P00451 ; xref: ENSEMBL:ENSG00000185010] OMIM:306700 Orphanet ID- 17996 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 Symptomatic form of hemophilia B in female carriers ICD10:D67 Orphanet ID- 17997 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:306900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 Gene [OrphaNum:121683 ; Name:Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) ; Symbol:F9 ; xref: GENATLAS:F9 ; xref: HGNC:3551 ; xref: OMIM:300746 ; xref: UNIPROTKB/SWISSPROT:P00740 ; xref: ENSEMBL:ENSG00000101981 ; xref: REACTOME:P00740] Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 17998 Central diabetes insipidus Neurogenic diabetes insipidus Neurogenic diabetes insipidus prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; ICD10:E23.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178029 Orphanet ID- 17999 EXACT Neurogenic diabetes insipidus Liver phosphorylase deficiency GSD type 6B Glycogen storage disease type 6B Glycogenosis type 6B Hepatic glycogen phosphorylase deficiency Hepatic phosphorylase deficiency Hers disease Liver glycogen phosphorylase deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 Glycogen storage disease type 6B Hers disease Liver glycogen phosphorylase deficiency Hepatic glycogen phosphorylase deficiency GSD type 6B OMIM:232700 ICD10:E74.0 Gene [OrphaNum:118180 ; Name:Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI) ; Symbol:PYGL ; xref: GENATLAS:PYGL ; xref: HGNC:9725 ; xref: OMIM:613741 ; xref: UNIPROTKB/SWISSPROT:P06737 ; xref: REACTOME:P06737 ; xref: ENSEMBL:ENSG00000100504] Hepatic phosphorylase deficiency Glycogenosis type 6B Orphanet ID- 18 EXACT GSD type 6B EXACT Hepatic glycogen phosphorylase deficiency EXACT Hers disease EXACT Glycogen storage disease type 6B EXACT Glycogenosis type 6B EXACT Liver glycogen phosphorylase deficiency EXACT Hepatic phosphorylase deficiency Christ-Siemens-Touraine syndrome X-linked anhidrotic ectodermal dysplasia X-linked hypohidrotic ectodermal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 ICD10:Q82.4 OMIM:305100 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; X-linked hypohidrotic ectodermal dysplasia X-linked anhidrotic ectodermal dysplasia Orphanet ID- 180 Gene [OrphaNum:121263 ; Name:Ectodysplasin A ; Symbol:EDA ; xref: HGNC:3157 ; xref: OMIM:300451 ; xref: UNIPROTKB/SWISSPROT:Q92838 ; xref: GENATLAS:EDA ; xref: ENSEMBL:ENSG00000158813] EXACT X-linked hypohidrotic ectodermal dysplasia EXACT X-linked anhidrotic ectodermal dysplasia Dyssegmental dysplasia - glaucoma Orphanet ID- 1800 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601561 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1804 Peripheral precocious puberty Orphanet ID- 18001 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178040 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Transient congenital hypothyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178045 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:P72.2 Orphanet ID- 18002 Moderate multiminicore disease with hand involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 Orphanet ID- 18007 OMIM:117000 Antenatal multiminicore disease with congenital arthrogryposis multiplex Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 OMIM:607552 Orphanet ID- 18008 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 8q22.1 microdeletion syndrome Monosomy 8q22.1 Nablus mask-like facial syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303 OMIM:608156 Orphanet ID- 18009 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Nablus mask-like facial syndrome ICD10:Q93.5 Monosomy 8q22.1 EXACT Nablus mask-like facial syndrome EXACT Monosomy 8q22.1 Ectodermal dysplasia - blindness Orphanet ID- 1801 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 OMIM:268320 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Reticulate acropigmentation of Kitamura RAPK RAPK prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 Orphanet ID- 18010 EXACT RAPK Heinz body anemia ICD10:D58.2 Orphanet ID- 18014 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178330 OMIM:140700 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Åland Island eye disease Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism Orphanet ID- 18015 OMIM:300600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 Gene [OrphaNum:119148 ; Name:Calcium channel, voltage-dependent, L type, alpha 1F subunit ; Symbol:CACNA1F ; xref: GENATLAS:CACNA1F ; xref: HGNC:1393 ; xref: OMIM:300110 ; xref: UNIPROTKB/SWISSPROT:O60840 ; xref: IUPHAR:531 ; xref: ENSEMBL:ENSG00000102001 ; xref: REACTOME:O60840] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; EXACT Forsius-Eriksson type ocular albinism EXACT Forsius-Eriksson syndrome UV-sensitive syndrome OMIM:614640 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 Gene [OrphaNum:302946 ; Name:UV-stimulated scaffold protein A ; Symbol:UVSSA ; xref: HGNC:29304 ; xref: OMIM:614632 ; xref: GENATLAS:KIAA1530 ; xref: UNIPROTKB/SWISSPROT:Q2YD98] OMIM:614621 Orphanet ID- 18016 OMIM:600630 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Gene [OrphaNum:121599 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 6 ; Symbol:ERCC6 ; xref: GENATLAS:ERCC6 ; xref: HGNC:3438 ; xref: OMIM:609413 ; xref: UNIPROTKB/SWISSPROT:Q03468 ; xref: REACTOME:Q03468 ; xref: ENSEMBL:ENSG00000225830] Gene [OrphaNum:121604 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 8 ; Symbol:ERCC8 ; xref: GENATLAS:ERCC8 ; xref: HGNC:3439 ; xref: OMIM:609412 ; xref: UNIPROTKB/SWISSPROT:Q13216 ; xref: REACTOME:Q13216 ; xref: ENSEMBL:ENSG00000049167] Aromatase excess syndrome Familial hyperestrogenism Hereditary prepubertal gynecomastia ICD10:E30.1 Hereditary prepubertal gynecomastia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:139300 Familial hyperestrogenism Gene [OrphaNum:120969 ; Name:Cytochrome P450, family 19, subfamily A, polypeptide 1 ; Symbol:CYP19A1 ; xref: GENATLAS:CYP19A1 ; xref: HGNC:2594 ; xref: OMIM:107910 ; xref: UNIPROTKB/SWISSPROT:P11511 ; xref: REACTOME:P11511 ; xref: ENSEMBL:ENSG00000137869] Orphanet ID- 18018 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 EXACT Hereditary prepubertal gynecomastia EXACT Familial hyperestrogenism Smith-McCort dysplasia ICD10:Q77.7 Gene [OrphaNum:121241 ; Name:Dymeclin ; Symbol:DYM ; xref: ENSEMBL:ENSG00000141627 ; xref: GENATLAS:DYM ; xref: HGNC:21317 ; xref: OMIM:607461 ; xref: UNIPROTKB/SWISSPROT:Q7RTS9] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 OMIM:607326 Orphanet ID- 18019 Hidrotic ectodermal dysplasia, Christianson-Fourie type Christianson-Fourie syndrome OMIM:601375 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808 Christianson-Fourie syndrome Orphanet ID- 1802 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Christianson-Fourie syndrome Syndromic microphthalmia type 5 MCOPS5 Syndromic microphthalmia/anophthalmia due to OTX2 mutation prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 MCOPS5 Syndromic microphthalmia/anophthalmia due to OTX2 mutation ICD10:Q11.2 Gene [OrphaNum:124040 ; Name:Orthodenticle homeobox 2 ; Symbol:OTX2 ; xref: GENATLAS:OTX2 ; xref: HGNC:8522 ; xref: OMIM:600037 ; xref: UNIPROTKB/SWISSPROT:P32243 ; xref: ENSEMBL:ENSG00000165588] Orphanet ID- 18020 OMIM:610125 EXACT Syndromic microphthalmia/anophthalmia due to OTX2 mutation EXACT MCOPS5 Osteosclerosis - developmental delay - craniosynostosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:123115 ; Name:Low density lipoprotein receptor-related protein 5 ; Symbol:LRP5 ; xref: UNIPROTKB/SWISSPROT:O75197 ; xref: GENATLAS:LRP5 ; xref: HGNC:6697 ; xref: OMIM:603506 ; xref: ENSEMBL:ENSG00000162337] Orphanet ID- 18021 Congenital vertical talus Congenital convex foot Congenital convex pes valgus Congenital rocker-bottom foot Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382 OMIM:192950 Congenital rocker-bottom foot ICD10:Q66.8 Orphanet ID- 18022 Congenital convex pes valgus Congenital convex foot prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Congenital rocker-bottom foot EXACT Congenital convex pes valgus EXACT Congenital convex foot Osteopetrosis - hypogammaglobulinemia Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia Autosomal recessive osteopetrosis type 7 ICD10:Q78.2 OMIM:612301 Autosomal recessive osteopetrosis type 7 Orphanet ID- 18023 Gene [OrphaNum:120160 ; Name:Tumor necrosis factor receptor superfamily, member 11a, NFKB activator ; Symbol:TNFRSF11A ; xref: GENATLAS:TNFRSF11A ; xref: HGNC:11908 ; xref: OMIM:603499 ; xref: UNIPROTKB/SWISSPROT:Q9Y6Q6 ; xref: ENSEMBL:ENSG00000141655] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 EXACT Autosomal recessive osteopetrosis type 7 EXACT Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia Hemorrhagic disease due to alpha-1 antitrypsin Pittsburgh mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 Orphanet ID- 18024 OMIM:613490 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:118602 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 ; Symbol:SERPINA1 ; xref: GENATLAS:SERPINA1 ; xref: HGNC:8941 ; xref: OMIM:107400 ; xref: UNIPROTKB/SWISSPROT:P01009 ; xref: ENSEMBL:ENSG00000197249 ; xref: REACTOME:P01009] Distal myopathy with anterior tibial onset Distal anterior compartment myopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18025 OMIM:606768 ICD10:G71.0 Distal anterior compartment myopathy Gene [OrphaNum:121246 ; Name:Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) ; Symbol:DYSF ; xref: GENATLAS:DYSF ; xref: HGNC:3097 ; xref: OMIM:603009 ; xref: UNIPROTKB/SWISSPROT:O75923 ; xref: ENSEMBL:ENSG00000135636] EXACT Distal anterior compartment myopathy X-linked myopathy with postural muscle atrophy OMIM:300696 Gene [OrphaNum:140044 ; Name:Four and a half LIM domains 1 ; Symbol:FHL1 ; xref: UNIPROTKB/SWISSPROT:Q13642 ; xref: GENATLAS:FHL1 ; xref: HGNC:3702 ; xref: OMIM:300163 ; xref: ENSEMBL:ENSG00000022267] ICD10:G71.0 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 Orphanet ID- 18026 Hereditary myopathy with early respiratory failure Edström Myopathy OMIM:603689 Edström Myopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] Orphanet ID- 18027 ICD10:G71.0 EXACT Edström Myopathy Autosomal dominant nonsyndromic intellectual deficit OMIM:614113 OMIM:156200 Gene [OrphaNum:282786 ; Name:Glutamate receptor, ionotropic, N-methyl D-aspartate 1 ; Symbol:GRIN1 ; xref: REACTOME:Q05586 ; xref: ENSEMBL:ENSG00000176884 ; xref: HGNC:4584 ; xref: OMIM:138249 ; xref: GENATLAS:GRIN1 ; xref: UNIPROTKB/SWISSPROT:Q05586] Gene [OrphaNum:270014 ; Name:dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A ; Symbol:DYRK1A ; xref: UNIPROTKB/SWISSPROT:Q13627 ; xref: ENSEMBL:ENSG00000157540 ; xref: REACTOME:Q13627 ; xref: HGNC:3091 ; xref: OMIM:600855 ; xref: GENATLAS:DYRK1A] OMIM:612621 Gene [OrphaNum:293085 ; Name:Calcium channel, voltage-dependent, gamma subunit 2 ; Symbol:CACNG2 ; xref: HGNC:1406 ; xref: OMIM:602911 ; xref: GENATLAS:CACNG2 ; xref: UNIPROTKB/SWISSPROT:Q9Y698] OMIM:612581 OMIM:612580 Orphanet ID- 18028 Gene [OrphaNum:188809 ; Name:Synaptic Ras GTPase activating protein 1 homolog (rat) ; Symbol:SYNGAP1 ; xref: OMIM:603384 ; xref: UNIPROTKB/SWISSPROT:Q96PV0 ; xref: GENATLAS:SYNGAP1 ; xref: HGNC:11497 ; xref: ENSEMBL:ENSG00000197283] Gene [OrphaNum:220922 ; Name:Dedicator of cytokinesis 8 ; Symbol:DOCK8 ; xref: ENSEMBL:ENSG00000107099 ; xref: REACTOME:Q8NF50 ; xref: GENATLAS:DOCK8 ; xref: HGNC:19191 ; xref: OMIM:611432 ; xref: UNIPROTKB/SWISSPROT:Q8NF50] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 OMIM:614104 Gene [OrphaNum:266126 ; Name:glutamate receptor, ionotropic, N-methyl D-aspartate 2B ; Symbol:GRIN2B ; xref: ENSEMBL:ENSG00000150086 ; xref: OMIM:138252 ; xref: UNIPROTKB/SWISSPROT:Q13224 ; xref: REACTOME:Q13224 ; xref: IUPHAR:457 ; xref: HGNC:4586 ; xref: GENATLAS:GRIN2B] Gene [OrphaNum:244206 ; Name:Methyl-CpG binding domain protein 5 ; Symbol:MBD5 ; xref: UNIPROTKB/SWISSPROT:Q9P267 ; xref: ENSEMBL:ENSG00000204406 ; xref: HGNC:20444 ; xref: GENATLAS:MBD5 ; xref: OMIM:611472] Gene [OrphaNum:284237 ; Name:Dynein, cytoplasmic 1, heavy chain 1 ; Symbol:DYNC1H1 ; xref: ENSEMBL:ENSG00000197102 ; xref: REACTOME:Q14204 ; xref: HGNC:2961 ; xref: OMIM:600112 ; xref: GENATLAS:DYNC1H1 ; xref: UNIPROTKB/SWISSPROT:Q14204] Gene [OrphaNum:199894 ; Name:Cadherin 15, type 1, M-cadherin (myotubule) ; Symbol:CDH15 ; xref: GENATLAS:CDH15 ; xref: HGNC:1754 ; xref: OMIM:114019 ; xref: UNIPROTKB/SWISSPROT:P55291 ; xref: ENSEMBL:ENSG00000129910 ; xref: REACTOME:P55291] OMIM:613970 OMIM:614563 Gene [OrphaNum:199900 ; Name:Kin of IRRE like 3 (Drosophila) ; Symbol:KIRREL3 ; xref: GENATLAS:KIRREL3 ; xref: HGNC:23204 ; xref: OMIM:607761 ; xref: UNIPROTKB/SWISSPROT:Q8IZU9 ; xref: ENSEMBL:ENSG00000149571 ; xref: REACTOME:Q8IZU9] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:614256 OMIM:614257 Gene [OrphaNum:293091 ; Name:Erythrocyte membrane protein band 4.1-like 1 ; Symbol:EPB41L1 ; xref: HGNC:3378 ; xref: OMIM:602879 ; xref: GENATLAS:EPB41L1 ; xref: UNIPROTKB/SWISSPROT:Q9H4G0] Gene [OrphaNum:279771 ; Name:Kinesin family member 1A ; Symbol:KIF1A ; xref: ENSEMBL:ENSG00000130294 ; xref: HGNC:888 ; xref: OMIM:601255 ; xref: GENATLAS:KIF1A ; xref: UNIPROTKB/SWISSPROT:Q12756] OMIM:614254 OMIM:614255 Hidrotic ectodermal dysplasia, Halal type Halal-Setton-Wang syndrome Orphanet ID- 1803 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 Halal-Setton-Wang syndrome EXACT Halal-Setton-Wang syndrome Myopic macular degeneration Myopic maculopathy Myopic maculopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18033 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178493 EXACT Myopic maculopathy Hereditary neuralgic amyotrophy Hereditary brachial plexus neuropathy Gene [OrphaNum:117605 ; Name:Septin 9 ; Symbol:SEPT9 ; xref: GENATLAS:SEPT9 ; xref: HGNC:7323 ; xref: OMIM:604061 ; xref: UNIPROTKB/SWISSPROT:Q9UHD8 ; xref: ENSEMBL:ENSG00000184640] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:162100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178498 Hereditary brachial plexus neuropathy ICD10:G54.5 Orphanet ID- 18034 EXACT Hereditary brachial plexus neuropathy Dursun syndrome Pulmonary arterial hypertension - leukopenia - atrial septal defect prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178503 Orphanet ID- 18035 OMIM:612541 Pulmonary arterial hypertension - leukopenia - atrial septal defect Gene [OrphaNum:171034 ; Name:Glucose 6 phosphatase, catalytic, 3 ; Symbol:G6PC3 ; xref: GENATLAS:G6PC3 ; xref: HGNC:24861 ; xref: OMIM:611045 ; xref: UNIPROTKB/SWISSPROT:Q9BUM1 ; xref: ENSEMBL:ENSG00000141349 ; xref: REACTOME:Q9BUM1] EXACT Pulmonary arterial hypertension - leukopenia - atrial septal defect Brain calcification, Rajab type Orphanet ID- 18036 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:613658 Perry syndrome OMIM:168605 Gene [OrphaNum:140067 ; Name:Dynactin 1 (p150, glued homolog, Drosophila) ; Symbol:DCTN1 ; xref: GENATLAS:DCTN1 ; xref: HGNC:2711 ; xref: OMIM:601143 ; xref: UNIPROTKB/SWISSPROT:Q14203 ; xref: ENSEMBL:ENSG00000204843 ; xref: REACTOME:Q14203] prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 Orphanet ID- 18037 Odontomicronychial dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:601319 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 Orphanet ID- 1804 Ectodermal dysplasia - intellectual deficit - central nervous system malformation prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 1805 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 OMIM:225040 Defect in adaptive immunity prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18068 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179006 Obesity due to congenital leptin resistance prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18082 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490 Obesity due to leptin receptor gene deficiency Orphanet ID- 18083 OMIM:601007 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123038 ; Name:Leptin receptor ; Symbol:LEPR ; xref: GENATLAS:LEPR ; xref: HGNC:6554 ; xref: OMIM:601007 ; xref: UNIPROTKB/SWISSPROT:P48357 ; xref: ENSEMBL:ENSG00000116678] ICD10:E66.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 Partial bilateral aplasia of the Müllerian duct prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18086 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068 Unilateral aplasia of the Müllerian duct Orphanet ID- 18087 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; True unicornuate uterus Complete unilateral aplasia of the Müllerian duct Unicornuate uterus without rudimentary horn Orphanet ID- 18088 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074 Unicornuate uterus without rudimentary horn ICD10:Q51.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Complete unilateral aplasia of the Müllerian duct EXACT Complete unilateral aplasia of the Müllerian duct EXACT Unicornuate uterus without rudimentary horn Pseudo unicornuate uterus Incomplete unilateral aplasia of the Müllerian duct Unicornuate uterus with rudimentary horn Incomplete unilateral aplasia of the Müllerian duct Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079 ICD10:Q51.4 Unicornuate uterus with rudimentary horn Orphanet ID- 18089 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Incomplete unilateral aplasia of the Müllerian duct EXACT Unicornuate uterus with rudimentary horn Multiple epiphyseal dysplasia Polyepiphyseal dysplasia Orphanet ID- 1809 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:Q78.8 Polyepiphyseal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 EXACT Polyepiphyseal dysplasia Schimke immuno-osseous dysplasia Schimke syndrome Spondyloepiphyseal dysplasia - nephrotic syndrome Spondyloepiphyseal dysplasia - nephrotic syndrome Gene [OrphaNum:119731 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 ; Symbol:SMARCAL1 ; xref: GENATLAS:SMARCAL1 ; xref: HGNC:11102 ; xref: OMIM:606622 ; xref: UNIPROTKB/SWISSPROT:Q9NZC9 ; xref: ENSEMBL:ENSG00000138375] OMIM:242900 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 Schimke syndrome Orphanet ID- 1812 EXACT Spondyloepiphyseal dysplasia - nephrotic syndrome EXACT Schimke syndrome Iris dysplasia - hypertelorism - deafness De Hauwere-Leroy-Adriaenssens syndrome OMIM:109120 De Hauwere-Leroy-Adriaenssens syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1831 Orphanet ID- 1813 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT De Hauwere-Leroy-Adriaenssens syndrome Axial mesodermal dysplasia spectrum Blastogenesis defect Russell-Weaver-Bull syndrome Blastogenesis defect Russell-Weaver-Bull syndrome ICD10:Q89.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1814 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 EXACT Blastogenesis defect EXACT Russell-Weaver-Bull syndrome Mesomelic dysplasia, Kantaputra type Kantaputra mesomelic dysplasia MDK Mesomelic dysplasia, Thai type ICD10:Q78.8 Orphanet ID- 1815 Mesomelic dysplasia, Thai type OMIM:613681 MDK Kantaputra mesomelic dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:156232 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836 EXACT MDK EXACT Kantaputra mesomelic dysplasia EXACT Mesomelic dysplasia, Thai type Malformative syndrome with dentinogenesis imperfecta prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18155 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766 Ulna metaphyseal dysplasia syndrome Rosenberg-Lohr syndrome ICD10:Q78.5 OMIM:191420 Rosenberg-Lohr syndrome Orphanet ID- 1816 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837 EXACT Rosenberg-Lohr syndrome Insulin-resistance syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181368 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18169 Metaphyseal dysplasia without hypotrichosis Cartilage-hair hypoplasia-like - skeletal dysplasia without hypotrichosis OMIM:250460 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1838 ICD10:Q78.5 Cartilage-hair hypoplasia-like - skeletal dysplasia without hypotrichosis Gene [OrphaNum:138742 ; Name:RNA component of mitochondrial RNA processing endoribonuclease ; Symbol:RMRP ; xref: GENATLAS:RMRP ; xref: HGNC:10031 ; xref: OMIM:157660 ; xref: ENSEMBL:ENSG00000199916] Orphanet ID- 1817 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Cartilage-hair hypoplasia-like - skeletal dysplasia without hypotrichosis Syndrome with hypogonadotropic hypogonadism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18174 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 Hypogonadotropic hypogonadism associated with other endocrinopathies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 Orphanet ID- 18175 Growth hormone insensitivity syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181393 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18176 Rare hypothyroidism Orphanet ID- 18177 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181396 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare hyperthyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181399 Orphanet ID- 18178 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndrome with hypoparathyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181402 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18179 Hereditary mucoepithelial dysplasia Urban-Schosser-Spohn syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; OMIM:158310 Orphanet ID- 1818 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839 Urban-Schosser-Spohn syndrome EXACT Urban-Schosser-Spohn syndrome Adrenogenital syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181412 Orphanet ID- 18182 Rare hypoaldosteronism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181419 Orphanet ID- 18184 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare hyperlipidemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18185 Major hypertriglyceridemia Orphanet ID- 18186 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181425 Hyperalphalipoproteinemia Orphanet ID- 18187 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare hypolipidemia Orphanet ID- 18188 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Benign familial hypobetalipoproteinemia OMIM:605019 Orphanet ID- 18189 Gene [OrphaNum:247151 ; Name:Angiopoietin-like 3 ; Symbol:ANGPTL3 ; xref: ENSEMBL:ENSG00000132855 ; xref: GENATLAS:ANGPTL3 ; xref: HGNC:491 ; xref: UNIPROTKB/SWISSPROT:Q9Y5C1 ; xref: OMIM:604774] prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121386 ; Name:Apolipoprotein B (including Ag(x) antigen) ; Symbol:APOB ; xref: ENSEMBL:ENSG00000084674 ; xref: REACTOME:P04114 ; xref: GENATLAS:APOB ; xref: HGNC:603 ; xref: OMIM:107730 ; xref: UNIPROTKB/SWISSPROT:P04114] Gene [OrphaNum:124137 ; Name:Proprotein convertase subtilisin/kexin type 9 ; Symbol:PCSK9 ; xref: GENATLAS:PCSK9 ; xref: HGNC:20001 ; xref: OMIM:607786 ; xref: UNIPROTKB/SWISSPROT:Q8NBP7 ; xref: ENSEMBL:ENSG00000169174] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181434 ICD10:E78.6 Rare syndromic dyslipidemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437 Orphanet ID- 18190 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Non-hypogonadotropic hypogonadism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18191 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441 Medullar aplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18195 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182040 Rare constitutional hemolytic anemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182043 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18196 MYH9-related thrombocytopenia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18198 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 NARP syndrome Neuropathy - ataxia - retinitis pigmentosa ICD10:G31.8 Orphanet ID- 182 Gene [OrphaNum:123508 ; Name:Mitochondrially encoded ATP synthase 6 ; Symbol:MT-ATP6 ; xref: GENATLAS:MT-ATP6 ; xref: HGNC:7414 ; xref: OMIM:516060 ; xref: UNIPROTKB/SWISSPROT:P00846 ; xref: ENSEMBL:ENSG00000198899 ; xref: REACTOME:P00846] Neuropathy - ataxia - retinitis pigmentosa OMIM:551500 Gene [OrphaNum:123562 ; Name:Mitochondrially encoded NADH dehydrogenase 5 ; Symbol:MT-ND5 ; xref: GENATLAS:MT-ND5 ; xref: HGNC:7461 ; xref: OMIM:516005 ; xref: UNIPROTKB/SWISSPROT:P03915 ; xref: ENSEMBL:ENSG00000198786 ; xref: REACTOME:P03915] Gene [OrphaNum:123567 ; Name:Mitochondrially encoded NADH dehydrogenase 6 ; Symbol:MT-ND6 ; xref: GENATLAS:MT-ND6 ; xref: HGNC:7462 ; xref: OMIM:516006 ; xref: UNIPROTKB/SWISSPROT:P03923 ; xref: ENSEMBL:ENSG00000198695 ; xref: REACTOME:P03923] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; EXACT Neuropathy - ataxia - retinitis pigmentosa Syndromic neurometabolic disease with non-X-linked intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182073 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18205 Syndromic neurometabolic disease with X-linked intellectual deficit Orphanet ID- 18206 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182076 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ARX-related epileptic encephalopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18207 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182079 Channelopathy with epilepsy Orphanet ID- 18208 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182083 Lethal bone dysplasia, Holmgren type Orphanet ID- 1821 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842 Genetic urticaria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182734 Orphanet ID- 18229 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Polymalformative genetic syndrome with increased risk of develop cancer Orphanet ID- 18230 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic epidermal disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18231 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183426 Inherited ichthyosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435 Orphanet ID- 18232 Genetic erythrokeratoderma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18233 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183438 Genetic acrokeratoderma Orphanet ID- 18234 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183441 Genetic porokeratosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183444 Orphanet ID- 18235 Genetic epidermal appendage anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183447 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18236 Genetic hair anomaly Orphanet ID- 18237 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183450 Genetic nail anomaly Orphanet ID- 18238 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183454 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic sebaceus gland anomaly Orphanet ID- 18240 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183460 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic pigmentation anomaly of the skin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183463 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18241 Genetic hyperpigmentation of the skin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183466 Orphanet ID- 18242 Genetic hypopigmentation of the skin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18243 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183469 Genetic dermis disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183472 Orphanet ID- 18244 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic skin vascular disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183478 Orphanet ID- 18246 Genetic mixed dermis disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183481 Orphanet ID- 18247 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic subcutaneous tissue disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183484 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18248 Genetic skin tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183487 Orphanet ID- 18249 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Renal dysplasia - megalocystis - sirenomelia Selig-Benacerraf-Greene syndrome Selig-Benacerraf-Greene syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1850 Orphanet ID- 1825 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Selig-Benacerraf-Greene syndrome Genetic photodermatosis Orphanet ID- 18250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183490 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic immune deficiency with skin involvement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183494 Orphanet ID- 18251 Genetic neuromuscular disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18252 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183497 Genetic neurodegenerative disease Orphanet ID- 18253 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183500 Genetic central nervous system and retinal vascular disease Orphanet ID- 18254 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183503 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic central nervous system malformation Orphanet ID- 18255 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183506 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare genetic headache prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18256 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183509 Rare genetic epilepsy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183512 Orphanet ID- 18257 Rare genetic medullar disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183515 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18258 Rare hereditary ataxia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183518 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18259 X-linked retinal dysplasia ICD10:Q14.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852 Orphanet ID- 1826 OMIM:312550 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare genetic movement disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183521 Orphanet ID- 18260 Rare genetic bone disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183524 Orphanet ID- 18261 Genetic bone tumor Orphanet ID- 18262 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183527 Rare genetic developmental defect during embryogenesis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18263 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183530 Genetic multiple congenital anomalies/dysmorphic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183533 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18264 Genetic renal or urinary tract malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183539 Orphanet ID- 18266 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic cranial malformation Orphanet ID- 18267 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183542 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic digestive tract malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183545 Orphanet ID- 18268 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic visceral malformation of the liver, biliary tract, pancreas or spleen Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183548 Orphanet ID- 18269 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic external or internal genital malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18270 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183551 Genetic respiratory or mediastinal malformation Orphanet ID- 18271 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183554 Genetic developmental defect of the eye Orphanet ID- 18272 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183557 Genetic malformation syndrome with short stature Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183570 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18274 Genetic overgrowth/obesity syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183573 Orphanet ID- 18275 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic branchial arch or oral-acral syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183576 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18276 Genetic malformation syndrome with odontal and/or periodontal component Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183580 Orphanet ID- 18277 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic head and neck malformation Orphanet ID- 18278 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183583 Genetic glomerular disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183586 Orphanet ID- 18279 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic thrombotic microangiopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18280 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183589 Genetic renal tubular disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18281 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183592 Genetic renal tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183595 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18282 Rare genetic palpebral, lacrimal system and conjunctival disease Orphanet ID- 18283 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183598 Rare genetic refraction anomaly Orphanet ID- 18284 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183601 Rare genetic glaucoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183604 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18285 Genetic lens and zonula anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183607 Orphanet ID- 18286 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic neuro-ophthalmological disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18289 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183616 Genetic eye tumor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18290 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183619 Genetic respiratory malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18291 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183622 Rare genetic diabetes mellitus Orphanet ID- 18292 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183625 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare genetic hypothalamic or pituitary disease Orphanet ID- 18293 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183628 Rare genetic thyroid disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18294 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183631 Rare genetic parathyroid disease and phosphocalcic metabolism disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18295 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183634 Rare genetic adrenal disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183637 Orphanet ID- 18296 Genetic dyslipidemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183640 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18297 Genetic polyendocrinopathy Orphanet ID- 18298 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183643 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Neurofibromatosis type 2 Familial acoustic neurinoma Familial acoustic neuroma Familial vestibular schwannoma NF2 Familial vestibular schwannoma OMIM:101000 NF2 Familial acoustic neuroma ICD10:Q85.0 Orphanet ID- 183 Gene [OrphaNum:123774 ; Name:Neurofibromin 2 (bilateral acoustic neuroma) ; Symbol:NF2 ; xref: ENSEMBL:ENSG00000186575 ; xref: GENATLAS:NF2 ; xref: HGNC:7773 ; xref: OMIM:607379 ; xref: UNIPROTKB/SWISSPROT:P35240] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 Familial acoustic neurinoma prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Familial acoustic neurinoma EXACT Familial vestibular schwannoma EXACT Familial acoustic neuroma EXACT NF2 Genetic disorder of sex development of endocrine origin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183648 Rare constitutional anemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183651 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18301 Rare genetic coagulation disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183654 Orphanet ID- 18302 Severe combined immunodeficiency SCID OMIM:269840 Orphanet ID- 18303 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; SCID Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183660 EXACT SCID Hyper-IgM syndrome with susceptibility to opportunistic infections Orphanet ID- 18304 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183663 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hyper-IgM syndrome without susceptibility to opportunistic infections prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18305 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183666 Agammaglobulinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183669 Orphanet ID- 18306 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Common variable immunodeficiency due to TNFR deficiency CVID due to TNFR deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183672 Gene [OrphaNum:120169 ; Name:Tumor necrosis factor receptor superfamily, member 13B ; Symbol:TNFRSF13B ; xref: GENATLAS:TNFRSF13B ; xref: HGNC:18153 ; xref: OMIM:604907 ; xref: UNIPROTKB/SWISSPROT:O14836 ; xref: ENSEMBL:ENSG00000240505] Orphanet ID- 18307 OMIM:613494 CVID due to TNFR deficiency OMIM:240500 Gene [OrphaNum:231494 ; Name:Tumor necrosis factor receptor superfamily, member 13C ; Symbol:TNFRSF13C ; xref: HGNC:17755 ; xref: UNIPROTKB/SWISSPROT:Q96RJ3 ; xref: OMIM:606269 ; xref: ENSEMBL:ENSG00000159958 ; xref: GENATLAS:TNFRSF13C] EXACT CVID due to TNFR deficiency Recurrent infections associated with rare immunoglobulin isotypes deficiency IgG subclass deficiency with IgA subclass deficiency Isolated IgG subclass deficiency Kappa-chain deficiency Selective IgG subclass deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183675 Selective IgG subclass deficiency Isolated IgG subclass deficiency OMIM:614102 IgG subclass deficiency with IgA subclass deficiency Gene [OrphaNum:270009 ; Name:immunoglobulin kappa constant ; Symbol:IGKC ; xref: HGNC:5716 ; xref: OMIM:147200 ; xref: UNIPROTKB/SWISSPROT:P01834 ; xref: ENSEMBL:ENSG00000211592 ; xref: REACTOME:P01834 ; xref: GENATLAS:IGKC] Kappa-chain deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Unknown; Gene [OrphaNum:221192 ; Name:Immunoglobulin heavy constant gamma 2 (G2m marker) ; Symbol:IGHG2 ; xref: REACTOME:P01859 ; xref: ENSEMBL:ENSG00000211893 ; xref: GENATLAS:IGHG2 ; xref: HGNC:5526 ; xref: OMIM:147110 ; xref: UNIPROTKB/SWISSPROT:P01859] Orphanet ID- 18308 EXACT Isolated IgG subclass deficiency EXACT Selective IgG subclass deficiency EXACT IgG subclass deficiency with IgA subclass deficiency EXACT Kappa-chain deficiency Hermansky-Pudlak syndrome with neutropenia HPS2 Hermansky-Pudlak syndrome type 2 Hermansky-Pudlak syndrome type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 Gene [OrphaNum:121374 ; Name:Adaptor-related protein complex 3, beta 1 subunit ; Symbol:AP3B1 ; xref: GENATLAS:AP3B1 ; xref: HGNC:566 ; xref: OMIM:603401 ; xref: UNIPROTKB/SWISSPROT:O00203 ; xref: REACTOME:O00203 ; xref: ENSEMBL:ENSG00000132842] HPS2 ICD10:E70.3 Orphanet ID- 18309 OMIM:608233 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Hermansky-Pudlak syndrome type 2 EXACT HPS2 Spondylometaphyseal dysplasia Orphanet ID- 1831 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254 Functional neutrophil defect Orphanet ID- 18310 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183681 Neutrophil immunodeficiency syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183707 OMIM:608203 Orphanet ID- 18311 Gene [OrphaNum:204411 ; Name:Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) ; Symbol:RAC2 ; xref: REACTOME:P15153 ; xref: GENATLAS:RAC2 ; xref: HGNC:9802 ; xref: OMIM:602049 ; xref: UNIPROTKB/SWISSPROT:P15153 ; xref: ENSEMBL:ENSG00000128340] Predisposition to invasive bacterial infections Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183710 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18312 Pyogenic bacterial infections due to MyD88 deficiency MyD88 deficiency Gene [OrphaNum:201114 ; Name:Myeloid differentiation primary response gene (88) ; Symbol:MYD88 ; xref: GENATLAS:MYD88 ; xref: HGNC:7562 ; xref: OMIM:602170 ; xref: UNIPROTKB/SWISSPROT:Q99836 ; xref: ENSEMBL:ENSG00000172936 ; xref: REACTOME:Q99836] MyD88 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183713 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Orphanet ID- 18313 OMIM:612260 EXACT MyD88 deficiency Other complex syndrome of primary immunodeficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183716 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18314 Rare genetic gynecological and obstetrical diseases Orphanet ID- 18315 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183731 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic gynecological tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183734 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18316 Rare genetic intellectual deficit Orphanet ID- 18320 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183757 Rare genetic intellectual deficit with developmental anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183763 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18322 Rare genetic immune disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183770 Orphanet ID- 18323 Skeletal dysplasia - epilepsy - short stature Gurrieri-Sammito-Bellussi syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 Orphanet ID- 1835 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gurrieri-Sammito-Bellussi syndrome OMIM:601187 ICD10:Q87.1 EXACT Gurrieri-Sammito-Bellussi syndrome Thanatophoric dwarfism type I Skeletal dysplasia, San Diego type Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] OMIM:187600 ICD10:Q77.1 Skeletal dysplasia, San Diego type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 Orphanet ID- 1837 EXACT Skeletal dysplasia, San Diego type Primary pigmented nodular adrenocortical disease Gene [OrphaNum:169910 ; Name:Phosphodiesterase 11A ; Symbol:PDE11A ; xref: GENATLAS:PDE11A ; xref: HGNC:8773 ; xref: OMIM:604961 ; xref: UNIPROTKB/SWISSPROT:Q9HCR9 ; xref: REACTOME:Q9HCR9 ; xref: ENSEMBL:ENSG00000128655] OMIM:610489 OMIM:610475 Gene [OrphaNum:226016 ; Name:Phosphodiesterase 8B ; Symbol:PDE8B ; xref: HGNC:8794 ; xref: GENATLAS:PDE8B ; xref: OMIM:603390 ; xref: UNIPROTKB/SWISSPROT:O95263 ; xref: ENSEMBL:ENSG00000113231 ; xref: REACTOME:O95263] OMIM:614190 Gene [OrphaNum:118010 ; Name:Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) ; Symbol:PRKAR1A ; xref: GENATLAS:PRKAR1A ; xref: HGNC:9388 ; xref: OMIM:188830 ; xref: UNIPROTKB/SWISSPROT:P10644 ; xref: ENSEMBL:ENSG00000108946 ; xref: REACTOME:P10644] ICD10:E24.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189439 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18376 Familial isolated hypoparathyroidism due to impaired PTH secretion Gene [OrphaNum:118138 ; Name:Parathyroid hormone ; Symbol:PTH ; xref: GENATLAS:PTH ; xref: HGNC:9606 ; xref: OMIM:168450 ; xref: UNIPROTKB/SWISSPROT:P01270 ; xref: REACTOME:P01270 ; xref: ENSEMBL:ENSG00000152266] Orphanet ID- 18377 Gene [OrphaNum:119185 ; Name:Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) ; Symbol:CASR ; xref: GENATLAS:CASR ; xref: HGNC:1514 ; xref: OMIM:601199 ; xref: UNIPROTKB/SWISSPROT:P41180 ; xref: ENSEMBL:ENSG00000036828 ; xref: IUPHAR:54 ; xref: REACTOME:P41180] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:E20.8 OMIM:146200 Hereditary inclusion body myositis prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 18378 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199237 ICD10:G71.8 Pulmonary capillary hemangiomatosis Orphanet ID- 18379 OMIM:234810 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241 Nelson syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199244 Orphanet ID- 18380 ICD10:E24.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Corticosteroid-binding globulin deficiency Transcortin deficiency OMIM:611489 Gene [OrphaNum:201291 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 ; Symbol:SERPINA6 ; xref: ENSEMBL:ENSG00000170099 ; xref: GENATLAS:SERPINA6 ; xref: HGNC:1540 ; xref: OMIM:122500 ; xref: UNIPROTKB/SWISSPROT:P08185] Orphanet ID- 18381 Transcortin deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:E27.8 EXACT Transcortin deficiency Familial multiple lipomatosis Orphanet ID- 18386 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:151900 Familial angiolipomatosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18387 OMIM:206550 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279 Harlequin syndrome Orphanet ID- 18388 ICD10:G90.8 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282 Hereditary hypercarotenemia and vitamin A deficiency Orphanet ID- 18389 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 ICD10:E50 OMIM:115300 OMIM:277350 Gene [OrphaNum:204452 ; Name:Beta-carotene 15,15'-monooxygenase 1 ; Symbol:BCMO1 ; xref: ENSEMBL:ENSG00000135697 ; xref: REACTOME:Q9HAY6 ; xref: GENATLAS:BCMO1 ; xref: HGNC:13815 ; xref: OMIM:605748 ; xref: UNIPROTKB/SWISSPROT:Q9HAY6] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Dyssegmental dysplasia, Silverman-Handmaker type Orphanet ID- 1839 Gene [OrphaNum:122547 ; Name:Heparan sulfate proteoglycan 2 ; Symbol:HSPG2 ; xref: GENATLAS:HSPG2 ; xref: HGNC:5273 ; xref: OMIM:142461 ; xref: UNIPROTKB/SWISSPROT:P98160 ; xref: ENSEMBL:ENSG00000142798 ; xref: REACTOME:P98160] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 OMIM:224410 Congenital microgastria ICD10:Q40.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 18391 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293 Congenital isolated ACTH deficiency prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 18392 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296 Gene [OrphaNum:119955 ; Name:T-box 19 ; Symbol:TBX19 ; xref: GENATLAS:TBX19 ; xref: HGNC:11596 ; xref: OMIM:604614 ; xref: UNIPROTKB/SWISSPROT:O60806 ; xref: ENSEMBL:ENSG00000143178] OMIM:201400 ICD10:E23.6 Late-onset isolated ACTH deficiency Orphanet ID- 18393 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199299 ICD10:E23.6 Tetragametic chimerism 46,XX/46,XY chimerism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q99.0 Orphanet ID- 18396 46,XX/46,XY chimerism EXACT 46,XX/46,XY chimerism Familial clubfoot with or without associated lower limb anomalies prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315 Orphanet ID- 18398 15q13.3 microdeletion syndrome Del(15)(q13.3) Monosomy 15q13.3 ICD10:Q93.5 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 Del(15)(q13.3) Orphanet ID- 18399 Gene [OrphaNum:264663 ; Name:cholinergic receptor, nicotinic, alpha 7 ; Symbol:CHRNA7 ; xref: IUPHAR:468 ; xref: ENSEMBL:ENSG00000175344 ; xref: REACTOME:P36544 ; xref: HGNC:1960 ; xref: OMIM:118511 ; xref: GENATLAS:CHRNA7 ; xref: UNIPROTKB/SWISSPROT:P36544] OMIM:612001 Monosomy 15q13.3 EXACT Del(15)(q13.3) EXACT Monosomy 15q13.3 Bullous dystrophy, macular type ICD10:Q81.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 1840 OMIM:302000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 Isolated autosomal dominant hypomagnesemia, Glaudemans type OMIM:160120 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 18401 Gene [OrphaNum:122756 ; Name:Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) ; Symbol:KCNA1 ; xref: GENATLAS:KCNA1 ; xref: HGNC:6218 ; xref: OMIM:176260 ; xref: UNIPROTKB/SWISSPROT:Q09470 ; xref: IUPHAR:538 ; xref: ENSEMBL:ENSG00000111262 ; xref: REACTOME:Q09470] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 Congenital myopathy, Paradas type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 Orphanet ID- 18402 ICD10:G71.2 Gene [OrphaNum:121246 ; Name:Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) ; Symbol:DYSF ; xref: GENATLAS:DYSF ; xref: HGNC:3097 ; xref: OMIM:603009 ; xref: UNIPROTKB/SWISSPROT:O75923 ; xref: ENSEMBL:ENSG00000135636] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Endocrine-cerebro-osteodysplasia syndrome ECO syndrome Gene [OrphaNum:201496 ; Name:Intestinal cell (MAK-like) kinase ; Symbol:ICK ; xref: GENATLAS:ICK ; xref: HGNC:21219 ; xref: OMIM:612325 ; xref: UNIPROTKB/SWISSPROT:Q9UPZ9 ; xref: ENSEMBL:ENSG00000112144] Orphanet ID- 18403 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:612651 ECO syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 EXACT ECO syndrome Pancreatic insufficiency - anemia - hyperostosis Orphanet ID- 18404 Gene [OrphaNum:201488 ; Name:Cytochrome c oxidase subunit IV isoform 2 (lung) ; Symbol:COX4I2 ; xref: GENATLAS:COX4I2 ; xref: HGNC:16232 ; xref: OMIM:607976 ; xref: UNIPROTKB/SWISSPROT:Q96KJ9 ; xref: ENSEMBL:ENSG00000131055] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 OMIM:612714 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Muscular dystrophy, Selcen type OMIM:612954 ICD10:G71.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340 Orphanet ID- 18405 Gene [OrphaNum:201494 ; Name:BCL2-associated athanogene 3 ; Symbol:BAG3 ; xref: ENSEMBL:ENSG00000151929 ; xref: GENATLAS:BAG3 ; xref: HGNC:939 ; xref: OMIM:603883 ; xref: UNIPROTKB/SWISSPROT:O95817] prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; SeSAME syndrome EAST syndrome Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance Gene [OrphaNum:189344 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 10 ; Symbol:KCNJ10 ; xref: IUPHAR:438 ; xref: REACTOME:P78508 ; xref: ENSEMBL:ENSG00000177807 ; xref: GENATLAS:KCNJ10 ; xref: HGNC:6256 ; xref: OMIM:602208 ; xref: UNIPROTKB/SWISSPROT:P78508] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 EAST syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 18406 OMIM:612780 Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance EXACT EAST syndrome EXACT Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance Thiamine-responsive encephalopathy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:118766 ; Name:Solute carrier family 19, member 3 ; Symbol:SLC19A3 ; xref: GENATLAS:SLC19A3 ; xref: HGNC:16266 ; xref: OMIM:606152 ; xref: UNIPROTKB/SWISSPROT:Q9BZV2 ; xref: ENSEMBL:ENSG00000135917 ; xref: REACTOME:Q9BZV2] Orphanet ID- 18407 OMIM:607483 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 Dystonia-parkinsonism, Paisan-Ruiz type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 Gene [OrphaNum:117873 ; Name:Phospholipase A2, group VI (cytosolic, calcium-independent) ; Symbol:PLA2G6 ; xref: GENATLAS:PLA2G6 ; xref: HGNC:9039 ; xref: OMIM:603604 ; xref: UNIPROTKB/SWISSPROT:O60733 ; xref: ENSEMBL:ENSG00000184381] OMIM:612953 Orphanet ID- 18408 ICD10:G24.1 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; CARASIL syndrome Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Maeda syndrome OMIM:600142 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 ICD10:I67.8 Maeda syndrome Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Orphanet ID- 18409 ICD10:F01.1 Gene [OrphaNum:138706 ; Name:HtrA serine peptidase 1 ; Symbol:HTRA1 ; xref: GENATLAS:HTRA1 ; xref: HGNC:9476 ; xref: OMIM:602194 ; xref: UNIPROTKB/SWISSPROT:Q92743 ; xref: ENSEMBL:ENSG00000166033] prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy EXACT Maeda syndrome Isolated congenital microcephaly Orphanet ID- 18415 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Isolated encephalocele Orphanet ID- 18416 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Progressive cone dystrophy Cone dystrophy Gene [OrphaNum:120678 ; Name:Cyclic nucleotide gated channel beta 3 ; Symbol:CNGB3 ; xref: GENATLAS:CNGB3 ; xref: HGNC:2153 ; xref: OMIM:605080 ; xref: UNIPROTKB/SWISSPROT:Q9NQW8 ; xref: ENSEMBL:ENSG00000170289 ; xref: IUPHAR:399] OMIM:602093 OMIM:180020 Gene [OrphaNum:122204 ; Name:Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 ; Symbol:GNAT2 ; xref: GENATLAS:GNAT2 ; xref: HGNC:4394 ; xref: OMIM:139340 ; xref: UNIPROTKB/SWISSPROT:P19087 ; xref: REACTOME:P19087 ; xref: ENSEMBL:ENSG00000134183] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871 OMIM:301251 OMIM:304030 OMIM:613093 OMIM:300085 Cone dystrophy Gene [OrphaNum:122333 ; Name:Guanylate cyclase activator 1A (retina) ; Symbol:GUCA1A ; xref: GENATLAS:GUCA1A ; xref: HGNC:4678 ; xref: OMIM:600364 ; xref: UNIPROTKB/SWISSPROT:P43080 ; xref: ENSEMBL:ENSG00000048545] Gene [OrphaNum:208333 ; Name:Phosphodiesterase 6C, cGMP-specific, cone, alpha prime ; Symbol:PDE6C ; xref: ENSEMBL:ENSG00000095464 ; xref: GENATLAS:PDE6C ; xref: HGNC:8787 ; xref: OMIM:600827 ; xref: UNIPROTKB/SWISSPROT:P51160] ICD10:H35.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1842 EXACT Cone dystrophy Paroxysmal dystonia Orphanet ID- 18420 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 Immunodeficiency with factor I anomaly Gene [OrphaNum:119371 ; Name:Complement factor I ; Symbol:CFI ; xref: GENATLAS:CFI ; xref: HGNC:5394 ; xref: OMIM:217030 ; xref: UNIPROTKB/SWISSPROT:P05156 ; xref: ENSEMBL:ENSG00000205403 ; xref: REACTOME:P05156] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200418 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18421 OMIM:610984 Immunodeficiency with factor H anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18422 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200421 Gene [OrphaNum:119363 ; Name:Complement factor H ; Symbol:CFH ; xref: GENATLAS:CFH ; xref: HGNC:4883 ; xref: OMIM:134370 ; xref: UNIPROTKB/SWISSPROT:P08603 ; xref: REACTOME:P08603 ; xref: ENSEMBL:ENSG00000000971] OMIM:609814 Cone rod dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 Gene [OrphaNum:124007 ; Name:Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) ; Symbol:OPN1LW ; xref: ENSEMBL:ENSG00000102076 ; xref: GENATLAS:OPN1LW ; xref: HGNC:9936 ; xref: UNIPROTKB/SWISSPROT:P04000 ; xref: OMIM:613524 ; xref: REACTOME:P04000] OMIM:604011 Gene [OrphaNum:244385 ; Name:Cadherin-related family member 1 ; Symbol:CDHR1 ; xref: HGNC:14550 ; xref: GENATLAS:CDHR1 ; xref: OMIM:609502 ; xref: UNIPROTKB/SWISSPROT:Q96JP9 ; xref: ENSEMBL:ENSG00000148600] OMIM:614500 OMIM:602093 ICD10:H35.5 Gene [OrphaNum:122340 ; Name:Guanylate cyclase 2D, membrane (retina-specific) ; Symbol:GUCY2D ; xref: GENATLAS:GUCY2D ; xref: HGNC:4689 ; xref: OMIM:600179 ; xref: UNIPROTKB/SWISSPROT:Q02846 ; xref: ENSEMBL:ENSG00000132518] Gene [OrphaNum:118319 ; Name:Regulating synaptic membrane exocytosis 1 ; Symbol:RIMS1 ; xref: GENATLAS:RIMS1 ; xref: HGNC:17282 ; xref: OMIM:606629 ; xref: UNIPROTKB/SWISSPROT:Q86UR5 ; xref: ENSEMBL:ENSG00000079841 ; xref: REACTOME:Q86UR5] OMIM:608194 Gene [OrphaNum:138702 ; Name:Retina and anterior neural fold homeobox 2 ; Symbol:RAX2 ; xref: GENATLAS:RAX2 ; xref: HGNC:18286 ; xref: OMIM:610362 ; xref: UNIPROTKB/SWISSPROT:Q96IS3 ; xref: ENSEMBL:ENSG00000173976] Gene [OrphaNum:160327 ; Name:PITPNM family member 3 ; Symbol:PITPNM3 ; xref: ENSEMBL:ENSG00000091622 ; xref: GENATLAS:PITPNM3 ; xref: HGNC:21043 ; xref: OMIM:608921 ; xref: UNIPROTKB/SWISSPROT:Q9BZ71] Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619] Gene [OrphaNum:201516 ; Name:ADAM metallopeptidase domain 9 (meltrin gamma) ; Symbol:ADAM9 ; xref: ENSEMBL:ENSG00000168615 ; xref: GENATLAS:ADAM9 ; xref: HGNC:216 ; xref: OMIM:602713 ; xref: UNIPROTKB/SWISSPROT:Q13443] Orphanet ID- 1843 Gene [OrphaNum:119148 ; Name:Calcium channel, voltage-dependent, L type, alpha 1F subunit ; Symbol:CACNA1F ; xref: GENATLAS:CACNA1F ; xref: HGNC:1393 ; xref: OMIM:300110 ; xref: UNIPROTKB/SWISSPROT:O60840 ; xref: IUPHAR:531 ; xref: ENSEMBL:ENSG00000102001 ; xref: REACTOME:O60840] OMIM:300476 OMIM:600977 Gene [OrphaNum:119559 ; Name:Aryl hydrocarbon receptor interacting protein-like 1 ; Symbol:AIPL1 ; xref: GENATLAS:AIPL1 ; xref: HGNC:359 ; xref: OMIM:604392 ; xref: UNIPROTKB/SWISSPROT:Q9NZN9 ; xref: ENSEMBL:ENSG00000129221] Gene [OrphaNum:118381 ; Name:Retinitis pigmentosa GTPase regulator ; Symbol:RPGR ; xref: GENATLAS:RPGR ; xref: HGNC:10295 ; xref: OMIM:312610 ; xref: UNIPROTKB/SWISSPROT:Q92834 ; xref: ENSEMBL:ENSG00000156313] OMIM:612775 Gene [OrphaNum:227401 ; Name:Unc-119 homolog (C. elegans) ; Symbol:UNC119 ; xref: HGNC:12565 ; xref: OMIM:604011 ; xref: UNIPROTKB/SWISSPROT:Q13432 ; xref: GENATLAS:UNC119 ; xref: ENSEMBL:ENSG00000109103] Gene [OrphaNum:160128 ; Name:Calcium channel, voltage-dependent, alpha 2/delta subunit 4 ; Symbol:CACNA2D4 ; xref: ENSEMBL:ENSG00000151062 ; xref: GENATLAS:CACNA2D4 ; xref: HGNC:20202 ; xref: OMIM:608171 ; xref: UNIPROTKB/SWISSPROT:Q7Z3S7] OMIM:304020 OMIM:605549 OMIM:613660 OMIM:601777 OMIM:610478 OMIM:603649 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Gene [OrphaNum:120822 ; Name:Cone-rod homeobox ; Symbol:CRX ; xref: GENATLAS:CRX ; xref: HGNC:2383 ; xref: OMIM:602225 ; xref: UNIPROTKB/SWISSPROT:O43186 ; xref: ENSEMBL:ENSG00000105392] OMIM:610283 Gene [OrphaNum:288971 ; Name:Chromosome 8 open reading frame 37 ; Symbol:C8ORF37 ; xref: ENSEMBL:ENSG00000156172 ; xref: UNIPROTKB/SWISSPROT:Q96NL8 ; xref: HGNC:27232 ; xref: OMIM:614477 ; xref: GENATLAS:C8orf37] OMIM:604116 Gene [OrphaNum:118388 ; Name:Retinitis pigmentosa GTPase regulator interacting protein 1 ; Symbol:RPGRIP1 ; xref: GENATLAS:RPGRIP1 ; xref: HGNC:13436 ; xref: OMIM:605446 ; xref: UNIPROTKB/SWISSPROT:Q96KN7 ; xref: ENSEMBL:ENSG00000092200] OMIM:604393 OMIM:120970 OMIM:600624 Gene [OrphaNum:158388 ; Name:Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ; Symbol:SEMA4A ; xref: REACTOME:Q9H3S1 ; xref: GENATLAS:SEMA4A ; xref: HGNC:10729 ; xref: OMIM:607292 ; xref: UNIPROTKB/SWISSPROT:Q9H3S1 ; xref: ENSEMBL:ENSG00000196189] OMIM:610381 Gene [OrphaNum:124012 ; Name:Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ; Symbol:OPN1MW ; xref: GENATLAS:OPN1MW ; xref: HGNC:4206 ; xref: OMIM:613523 ; xref: UNIPROTKB/SWISSPROT:P04001 ; xref: REACTOME:P04001 ; xref: ENSEMBL:ENSG00000147380] Gene [OrphaNum:122333 ; Name:Guanylate cyclase activator 1A (retina) ; Symbol:GUCA1A ; xref: GENATLAS:GUCA1A ; xref: HGNC:4678 ; xref: OMIM:600364 ; xref: UNIPROTKB/SWISSPROT:P43080 ; xref: ENSEMBL:ENSG00000048545] Gene [OrphaNum:159821 ; Name:Prominin 1 ; Symbol:PROM1 ; xref: ENSEMBL:ENSG00000007062 ; xref: GENATLAS:PROM1 ; xref: HGNC:9454 ; xref: OMIM:604365 ; xref: UNIPROTKB/SWISSPROT:O43490] OMIM:612657 Gene [OrphaNum:117623 ; Name:ATP-binding cassette, sub-family A (ABC1), member 4 ; Symbol:ABCA4 ; xref: GENATLAS:ABCA4 ; xref: HGNC:34 ; xref: OMIM:601691 ; xref: UNIPROTKB/SWISSPROT:P78363 ; xref: REACTOME:P78363 ; xref: ENSEMBL:ENSG00000198691] Jalili syndrome Cone rod dystrophy - amelogenesis imperfecta OMIM:217080 Gene [OrphaNum:178795 ; Name:Cyclin M4 ; Symbol:CNNM4 ; xref: GENATLAS:CNNM4 ; xref: HGNC:105 ; xref: OMIM:607805 ; xref: UNIPROTKB/SWISSPROT:Q6P4Q7 ; xref: ENSEMBL:ENSG00000158158] ICD10:K00.5 Cone rod dystrophy - amelogenesis imperfecta ICD10:H35.5 Orphanet ID- 1844 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Cone rod dystrophy - amelogenesis imperfecta Congenital muscular dystrophy - infantile cataract - hypogonadism Bassoe syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875 OMIM:254000 Orphanet ID- 1845 Bassoe syndrome EXACT Bassoe syndrome Melorheostosis with osteopoikilosis MSBD syndrome Mixed sclerosing bone dystrophy Orphanet ID- 1847 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 MSBD syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mixed sclerosing bone dystrophy Gene [OrphaNum:123031 ; Name:LEM domain containing 3 ; Symbol:LEMD3 ; xref: GENATLAS:LEMD3 ; xref: HGNC:28887 ; xref: OMIM:607844 ; xref: UNIPROTKB/SWISSPROT:Q9Y2U8 ; xref: ENSEMBL:ENSG00000174106] EXACT Mixed sclerosing bone dystrophy EXACT MSBD syndrome Anomaly of puberty or/and menstrual cycle of genetic origin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18483 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202940 Syndromic microphthalmia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948 Orphanet ID- 18484 Ectodermal dysplasia - arthrogryposis - diabetes mellitus Côte-Adamopoulos-Pantelakis syndrome Côte-Adamopoulos-Pantelakis syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1881 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 1849 EXACT Côte-Adamopoulos-Pantelakis syndrome Hypoxanthine-guanine phosphoribosyltransferase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18494 Infantile Krabbe disease Krabbe disease, classic form Krabbe disease, early-onset Gene [OrphaNum:121995 ; Name:Galactosylceramidase ; Symbol:GALC ; xref: GENATLAS:GALC ; xref: HGNC:4115 ; xref: OMIM:606890 ; xref: UNIPROTKB/SWISSPROT:P54803 ; xref: ENSEMBL:ENSG00000054983 ; xref: REACTOME:P54803] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18495 ICD10:E75.2 OMIM:245200 Krabbe disease, early-onset Krabbe disease, classic form Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 EXACT Krabbe disease, early-onset EXACT Krabbe disease, classic form Late-infantile or juvenile Krabbe disease Krabbe disease, late-onset OMIM:245200 Gene [OrphaNum:121995 ; Name:Galactosylceramidase ; Symbol:GALC ; xref: GENATLAS:GALC ; xref: HGNC:4115 ; xref: OMIM:606890 ; xref: UNIPROTKB/SWISSPROT:P54803 ; xref: ENSEMBL:ENSG00000054983 ; xref: REACTOME:P54803] Krabbe disease, late-onset ICD10:E75.2 Orphanet ID- 18496 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 EXACT Krabbe disease, late-onset Adult Krabbe disease ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121995 ; Name:Galactosylceramidase ; Symbol:GALC ; xref: GENATLAS:GALC ; xref: HGNC:4115 ; xref: OMIM:606890 ; xref: UNIPROTKB/SWISSPROT:P54803 ; xref: ENSEMBL:ENSG00000054983 ; xref: REACTOME:P54803] Orphanet ID- 18497 OMIM:245200 Neurofibromatosis type 1 NF1 Neurofibromatosis 1 Von Recklinghausen disease prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:162210 Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712] OMIM:613675 NF1 Von Recklinghausen disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 Orphanet ID- 185 ICD10:Q85.0 OMIM:162200 Neurofibromatosis 1 EXACT Von Recklinghausen disease EXACT NF1 EXACT Neurofibromatosis 1 Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia ANOTHER syndrome ANOTHER syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 OMIM:225050 EXACT ANOTHER syndrome Ectodermal dysplasia - sensorineural deafness prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 OMIM:224800 Orphanet ID- 1851 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 Gene [OrphaNum:121117 ; Name:Dystrophin (muscular dystrophy, Duchenne and Becker types) ; Symbol:DMD ; xref: GENATLAS:DMD ; xref: HGNC:2928 ; xref: OMIM:300377 ; xref: UNIPROTKB/SWISSPROT:P11532 ; xref: ENSEMBL:ENSG00000198947 ; xref: REACTOME:P11532] Orphanet ID- 18519 ICD10:G71.0 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; Autosomal recessive limb-girdle muscular dystrophy type 2L LGMD2L Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 LGMD2L ICD10:G71.0 Orphanet ID- 18520 Gene [OrphaNum:120137 ; Name:Anoctamin 5 ; Symbol:ANO5 ; xref: HGNC:27337 ; xref: OMIM:608662 ; xref: GENATLAS:ANO5 ; xref: UNIPROTKB/SWISSPROT:Q75V66 ; xref: ENSEMBL:ENSG00000171714] prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:611307 EXACT LGMD2L Autosomal recessive limb-girdle muscular dystrophy type 2M LGMD2M OMIM:611588 Gene [OrphaNum:121775 ; Name:Fukutin ; Symbol:FKTN ; xref: GENATLAS:FKTN ; xref: HGNC:3622 ; xref: OMIM:607440 ; xref: UNIPROTKB/SWISSPROT:O75072 ; xref: ENSEMBL:ENSG00000106692] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; LGMD2M Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 ICD10:G71.0 Orphanet ID- 18521 EXACT LGMD2M Autosomal recessive limb-girdle muscular dystrophy type 2N LGMD2N OMIM:613158 LGMD2N prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G71.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 Gene [OrphaNum:117942 ; Name:Protein-O-mannosyltransferase 2 ; Symbol:POMT2 ; xref: GENATLAS:POMT2 ; xref: HGNC:19743 ; xref: OMIM:607439 ; xref: UNIPROTKB/SWISSPROT:Q9UKY4 ; xref: ENSEMBL:ENSG00000009830] Orphanet ID- 18522 EXACT LGMD2N Autosomal recessive limb-girdle muscular dystrophy type 2O LGMD2O Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G71.0 OMIM:613157 LGMD2O Orphanet ID- 18523 EXACT LGMD2O Autosomal recessive lower motor neuron disease with childhood onset Autosomal recessive distal spinal muscular atrophy type 4 DSMA4 Distal spinal muscular atrophy type 4 ICD10:G12.2 Autosomal recessive distal spinal muscular atrophy type 4 OMIM:611067 DSMA4 Gene [OrphaNum:167889 ; Name:Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 ; Symbol:PLEKHG5 ; xref: OMIM:611101 ; xref: UNIPROTKB/SWISSPROT:O94827 ; xref: GENATLAS:PLEKHG5 ; xref: HGNC:29105 ; xref: ENSEMBL:ENSG00000171680 ; xref: REACTOME:O94827] Distal spinal muscular atrophy type 4 Orphanet ID- 18527 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Autosomal recessive distal spinal muscular atrophy type 4 EXACT DSMA4 EXACT Distal spinal muscular atrophy type 4 Adult polyglucosan body disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 OMIM:263570 Gene [OrphaNum:122043 ; Name:Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) ; Symbol:GBE1 ; xref: GENATLAS:GBE1 ; xref: HGNC:4180 ; xref: OMIM:607839 ; xref: UNIPROTKB/SWISSPROT:Q04446 ; xref: REACTOME:Q04446 ; xref: ENSEMBL:ENSG00000114480] Orphanet ID- 18528 ICD10:E74.0 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Ectodermal dysplasia, Berlin type Leukomelanoderma - intellectual deficit - hypotrichosis ICD10:Q82.4 Orphanet ID- 1853 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Leukomelanoderma - intellectual deficit - hypotrichosis OMIM:246500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 EXACT Leukomelanoderma - intellectual deficit - hypotrichosis Genetic skeletal muscle disease Orphanet ID- 18537 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206634 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Progressive muscular dystrophy Orphanet ID- 18539 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206644 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ectodermal dysplasia, tricho-odonto-onychial type Orphanet ID- 1854 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:129510 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 ICD10:Q82.8 Myotonic dystrophy Orphanet ID- 18540 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647 Autosomal dominant distal myopathy Orphanet ID- 18541 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206650 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive distal myopathy Orphanet ID- 18542 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206653 Non-dystrophic myopathy Orphanet ID- 18543 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206656 Non-dystrophic myopathy with collagen 6 anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206659 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18544 Inclusion myopathy Orphanet ID- 18545 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206662 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Bulbospinal muscular atrophy SBMA Spinal and bulbar muscular atrophy Spinobulbar muscular atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206701 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18547 Bulbospinal muscular atrophy of children Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206704 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18548 Bulbospinal muscular atrophy of adult prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206707 Orphanet ID- 18549 Facial ectodermal dysplasia Focal facial dermal dysplasia type 2 Setleis syndrome Focal facial dermal dysplasia type 2 Setleis syndrome OMIM:227260 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 Orphanet ID- 1855 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:239021 ; Name:Twist homolog 2 (Drosophila) ; Symbol:TWIST2 ; xref: GENATLAS:TWIST2 ; xref: HGNC:20670 ; xref: UNIPROTKB/SWISSPROT:Q8WVJ9 ; xref: OMIM:607556 ; xref: ENSEMBL:ENSG00000233608] EXACT Focal facial dermal dysplasia type 2 EXACT Setleis syndrome Generalized bulbospinal muscular atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206710 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18550 Distal spinal muscular atrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206713 Orphanet ID- 18551 Muscular lipidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206953 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18553 Muscular glycogenosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18554 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206959 Mitochondrial myopathy Orphanet ID- 18555 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206966 Myotonic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206970 Orphanet ID- 18556 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital myotonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206973 Orphanet ID- 18557 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Periodic paralysis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206976 Orphanet ID- 18558 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Spinal muscular atrophy associated with central nervous system anomaly Orphanet ID- 18570 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207012 Rare hereditary disease with peripheral neuropathy Orphanet ID- 18571 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207015 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare hereditary metabolic disease with peripheral neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18572 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207018 Rare hereditary systemic disease with peripheral neuropathy Orphanet ID- 18573 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207021 Rare hereditary neurologic disease with peripheral neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18574 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207025 Cerebellar ataxia with peripheral neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207028 Orphanet ID- 18575 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare disease with corpus callosum agenesis associated with peripheral neuropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18576 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207031 Intellectual deficit - spasticity - ectrodactyly Jancar syndrome Jancar syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:246555 Orphanet ID- 1860 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 EXACT Jancar syndrome Bilateral parasagittal parieto-occipital polymicrogyria OMIM:612691 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 Orphanet ID- 18604 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q04.3 Bilateral frontal polymicrogyria Orphanet ID- 18605 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 Bilateral generalized polymicrogyria Gene [OrphaNum:159501 ; Name:Nonhomologous end-joining factor 1 ; Symbol:NHEJ1 ; xref: GENATLAS:NHEJ1 ; xref: HGNC:25737 ; xref: OMIM:611290 ; xref: UNIPROTKB/SWISSPROT:Q9H9Q4 ; xref: ENSEMBL:ENSG00000187736] ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 Orphanet ID- 18606 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant cerebellar ataxia type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18607 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 Spinocerebellar ataxia type 29 SCA29 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 Orphanet ID- 18608 Gene [OrphaNum:212616 ; Name:Spinocerebellar ataxia 29 ; Symbol:SCA29 ; xref: OMIM:117360 ; xref: HGNC:33444] SCA29 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Unknown; OMIM:117360 ICD10:G11 EXACT SCA29 Ectrodactyly - polydactyly ICD10:Q73.8 Orphanet ID- 1861 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 ICD10:Q69.9 OMIM:225290 Genetic hypoparathyroidism Orphanet ID- 18610 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208593 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic hyperparathyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208596 Orphanet ID- 18611 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cryopyrin-associated periodic syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18613 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 EEC syndrome Ectrodactyly - ectodermal dysplasia - cleft lip/palate Gene [OrphaNum:120207 ; Name:Tumor Protein p63 ; Symbol:TP63 ; xref: OMIM:603273 ; xref: UNIPROTKB/SWISSPROT:Q9H3D4 ; xref: GENATLAS:TP63 ; xref: HGNC:15979 ; xref: ENSEMBL:ENSG00000073282] OMIM:604292 Orphanet ID- 1864 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 OMIM:129900 Ectrodactyly - ectodermal dysplasia - cleft lip/palate prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q82.4 OMIM:183500 EXACT Ectrodactyly - ectodermal dysplasia - cleft lip/palate EEM syndrome Ectodermal dysplasia - ectrodactyly - macular dystrophy OMIM:225280 ICD10:Q87.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 Gene [OrphaNum:119285 ; Name:Cadherin 3, type 1, P-cadherin (placental) ; Symbol:CDH3 ; xref: GENATLAS:CDH3 ; xref: HGNC:1762 ; xref: OMIM:114021 ; xref: UNIPROTKB/SWISSPROT:P22223 ; xref: REACTOME:P22223 ; xref: ENSEMBL:ENSG00000062038] Orphanet ID- 1865 Ectodermal dysplasia - ectrodactyly - macular dystrophy EXACT Ectodermal dysplasia - ectrodactyly - macular dystrophy Adult-onset proximal spinal muscular atrophy, autosomal dominant Finkel disease Finkel disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335 Orphanet ID- 18654 Gene [OrphaNum:120453 ; Name:VAMP (vesicle-associated membrane protein)-associated protein B and C ; Symbol:VAPB ; xref: GENATLAS:VAPB ; xref: HGNC:12649 ; xref: OMIM:605704 ; xref: UNIPROTKB/SWISSPROT:O95292 ; xref: ENSEMBL:ENSG00000124164 ; xref: REACTOME:O95292] OMIM:182980 ICD10:G12.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Finkel disease Childhood-onset proximal spinal muscular atrophy, autosomal dominant Juvenile spinal muscular atrophy, autosomal dominant Kugelberg-Welander disease, autosomal dominant ICD10:G12.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 Gene [OrphaNum:284237 ; Name:Dynein, cytoplasmic 1, heavy chain 1 ; Symbol:DYNC1H1 ; xref: ENSEMBL:ENSG00000197102 ; xref: REACTOME:Q14204 ; xref: HGNC:2961 ; xref: OMIM:600112 ; xref: GENATLAS:DYNC1H1 ; xref: UNIPROTKB/SWISSPROT:Q14204] OMIM:158600 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Kugelberg-Welander disease, autosomal dominant Orphanet ID- 18655 Juvenile spinal muscular atrophy, autosomal dominant EXACT Juvenile spinal muscular atrophy, autosomal dominant EXACT Kugelberg-Welander disease, autosomal dominant Severe neonatal-onset encephalopathy with microcephaly Severe congenital encephalopathy due to MECP2 mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 Severe congenital encephalopathy due to MECP2 mutation Orphanet ID- 18656 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; OMIM:300673 Gene [OrphaNum:123186 ; Name:Methyl CpG binding protein 2 (Rett syndrome) ; Symbol:MECP2 ; xref: GENATLAS:MECP2 ; xref: HGNC:6990 ; xref: OMIM:300005 ; xref: UNIPROTKB/SWISSPROT:P51608 ; xref: ENSEMBL:ENSG00000169057] EXACT Severe congenital encephalopathy due to MECP2 mutation Autosomal dominant rhegmatogenous retinal detachment OMIM:609508 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867 Orphanet ID- 18662 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] Familial juvenile hyperuricemic nephropathy type 1 FJHN type 1 Familial juvenile gouty nephropathy Familial nephropathy with gout UMOD-associated FJHN UMOD-associated familial juvenile hyperuricemic nephropathy Orphanet ID- 18663 OMIM:162000 Gene [OrphaNum:120412 ; Name:Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) ; Symbol:UMOD ; xref: GENATLAS:UMOD ; xref: HGNC:12559 ; xref: OMIM:191845 ; xref: UNIPROTKB/SWISSPROT:P07911 ; xref: ENSEMBL:ENSG00000169344] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; UMOD-associated familial juvenile hyperuricemic nephropathy FJHN type 1 OMIM:614227 UMOD-associated FJHN Familial juvenile gouty nephropathy Familial nephropathy with gout Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209886 EXACT FJHN type 1 EXACT Familial nephropathy with gout EXACT UMOD-associated familial juvenile hyperuricemic nephropathy EXACT UMOD-associated FJHN EXACT Familial juvenile gouty nephropathy Congenital isolated thyroxine-binding globulin deficiency Congenital isolated TBG deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209893 Orphanet ID- 18664 Congenital isolated TBG deficiency Gene [OrphaNum:212874 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 ; Symbol:SERPINA7 ; xref: ENSEMBL:ENSG00000123561 ; xref: HGNC:11583 ; xref: OMIM:314200 ; xref: GENATLAS:SERPINA7 ; xref: UNIPROTKB/SWISSPROT:P05543] ICD10:E07.8 OMIM:314200 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked dominant; Inheritance- X-linked recessive; EXACT Congenital isolated TBG deficiency Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 18665 ICD10:E78.0 Gene [OrphaNum:212882 ; Name:Cytochrome P450, family 7, subfamily A, polypeptide 1 ; Symbol:CYP7A1 ; xref: REACTOME:P22680 ; xref: ENSEMBL:ENSG00000167910 ; xref: GENATLAS:CYP7A1 ; xref: HGNC:2651 ; xref: OMIM:118455 ; xref: UNIPROTKB/SWISSPROT:P22680] Brain-lung-thyroid syndrome Choreoathetosis - hypothyroidism - neonatal respiratory distress prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 Gene [OrphaNum:156077 ; Name:NK2 homeobox 1 ; Symbol:NKX2-1 ; xref: ENSEMBL:ENSG00000136352 ; xref: HGNC:11825 ; xref: OMIM:600635 ; xref: UNIPROTKB/SWISSPROT:P43699 ; xref: GENATLAS:NKX2-1] Choreoathetosis - hypothyroidism - neonatal respiratory distress OMIM:610978 ICD10:P22.8 ICD10:E03.1 Orphanet ID- 18666 EXACT Choreoathetosis - hypothyroidism - neonatal respiratory distress Speech-language disorder type 1 Developmental verbal dyspraxia Speech and language disorder with orofacial dyspraxia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:602081 Orphanet ID- 18667 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 Gene [OrphaNum:212885 ; Name:Forkhead box P2 ; Symbol:FOXP2 ; xref: ENSEMBL:ENSG00000128573 ; xref: GENATLAS:FOXP2 ; xref: HGNC:13875 ; xref: OMIM:605317 ; xref: UNIPROTKB/SWISSPROT:O15409] Speech and language disorder with orofacial dyspraxia Developmental verbal dyspraxia EXACT Speech and language disorder with orofacial dyspraxia EXACT Developmental verbal dyspraxia Cone dystrophy with supernormal rod response Cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal scotopic electroretinogram Gene [OrphaNum:159360 ; Name:Potassium channel, subfamily V, member 2 ; Symbol:KCNV2 ; xref: GENATLAS:KCNV2 ; xref: HGNC:19698 ; xref: OMIM:607604 ; xref: UNIPROTKB/SWISSPROT:Q8TDN2 ; xref: IUPHAR:566 ; xref: ENSEMBL:ENSG00000168263 ; xref: REACTOME:Q8TDN2] Gene [OrphaNum:160320 ; Name:Phosphodiesterase 6H, cGMP-specific, cone, gamma ; Symbol:PDE6H ; xref: GENATLAS:PDE6H ; xref: HGNC:8790 ; xref: OMIM:601190 ; xref: UNIPROTKB/SWISSPROT:Q13956 ; xref: ENSEMBL:ENSG00000139053] Cone dystrophy with supernormal scotopic electroretinogram Cone dystrophy with supernormal rod ERG OMIM:610356 Cone dystrophy with supernormal rod electroretinogram prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932 OMIM:610024 Orphanet ID- 18670 EXACT Cone dystrophy with supernormal rod ERG EXACT Cone dystrophy with supernormal rod electroretinogram EXACT Cone dystrophy with supernormal scotopic electroretinogram IRVAN syndrome Idiopathic retinal-aneurysms-neuroretinitis syndrome Idiopathic retinal-aneurysms-neuroretinitis syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 18671 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943 EXACT Idiopathic retinal-aneurysms-neuroretinitis syndrome Autosomal recessive spastic paraplegia type 18 SPG18 Orphanet ID- 18672 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 ICD10:G11.4 SPG18 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:611225 Gene [OrphaNum:280390 ; Name:ER lipid raft associated 2 ; Symbol:ERLIN2 ; xref: ENSEMBL:ENSG00000147475 ; xref: HGNC:1356 ; xref: OMIM:611605 ; xref: GENATLAS:ERLIN2 ; xref: UNIPROTKB/SWISSPROT:O94905] EXACT SPG18 Episodic ataxia type 6 OMIM:612656 Orphanet ID- 18676 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:212892 ; Name:Solute carrier family 1 (glial high affinity glutamate transporter), member 3 ; Symbol:SLC1A3 ; xref: ENSEMBL:ENSG00000079215 ; xref: REACTOME:P43003 ; xref: GENATLAS:SLC1A3 ; xref: HGNC:10941 ; xref: OMIM:600111 ; xref: UNIPROTKB/SWISSPROT:P43003] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 ICD10:G11.8 Episodic ataxia type 7 OMIM:611907 Orphanet ID- 18677 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970 ICD10:G11.8 Benign familial nocturnal alternating hemiplegia of childhood Benign familial nocturnal alternating hemiplegia in childhood prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Unknown; Orphanet ID- 18678 Benign familial nocturnal alternating hemiplegia in childhood Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973 EXACT Benign familial nocturnal alternating hemiplegia in childhood Alternating hemiplegia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18679 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209978 Fetal valproate syndrome Fetal valproic acid syndrome Vaalproate antenatal infection Valproic acid antenatal infection ICD10:Q86.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 OMIM:609442 Orphanet ID- 1868 Valproic acid antenatal infection Fetal valproic acid syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Vaalproate antenatal infection EXACT Fetal valproic acid syndrome EXACT Vaalproate antenatal infection EXACT Valproic acid antenatal infection IRIDA syndrome Iron-refractory iron deficiency anemia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 OMIM:206200 Orphanet ID- 18680 ICD10:D50.8 Gene [OrphaNum:139780 ; Name:Transmembrane protease, serine 6 ; Symbol:TMPRSS6 ; xref: GENATLAS:TMPRSS6 ; xref: HGNC:16517 ; xref: OMIM:609862 ; xref: UNIPROTKB/SWISSPROT:Q8IU80 ; xref: ENSEMBL:ENSG00000187045] Iron-refractory iron deficiency anemia EXACT Iron-refractory iron deficiency anemia Intermediate osteopetrosis Autosomal recessive intermediate osteopetrosis Orphanet ID- 18682 OMIM:611497 Autosomal recessive intermediate osteopetrosis Gene [OrphaNum:212898 ; Name:Pleckstrin homology domain containing, family M (with RUN domain) member 1 ; Symbol:PLEKHM1 ; xref: ENSEMBL:ENSG00000225190 ; xref: GENATLAS:PLEKHM1 ; xref: HGNC:29017 ; xref: OMIM:611466 ; xref: UNIPROTKB/SWISSPROT:Q9Y4G2] Gene [OrphaNum:119462 ; Name:Chloride channel 7 ; Symbol:CLCN7 ; xref: GENATLAS:CLCN7 ; xref: HGNC:2025 ; xref: OMIM:602727 ; xref: UNIPROTKB/SWISSPROT:P51798 ; xref: ENSEMBL:ENSG00000103249] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 ICD10:Q78.2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; EXACT Autosomal recessive intermediate osteopetrosis Sterile multifocal osteomyelitis with periostitis and pustulosis Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency DIRA Interleukin-1 receptor antagonist deficiency OMPP DIRA OMPP Orphanet ID- 18683 Interleukin-1 receptor antagonist deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 OMIM:612852 Gene [OrphaNum:212902 ; Name:Interleukin 1 receptor antagonist ; Symbol:IL1RN ; xref: ENSEMBL:ENSG00000136689 ; xref: REACTOME:P18510 ; xref: HGNC:6000 ; xref: GENATLAS:IL1RN ; xref: OMIM:147679 ; xref: UNIPROTKB/SWISSPROT:P18510] EXACT DIRA EXACT Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency EXACT Interleukin-1 receptor antagonist deficiency EXACT OMPP Congenital alveolar capillary dysplasia Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary vessels prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 18684 Alveolar capillary dysplasia with misalignment of pulmonary vessels Gene [OrphaNum:212909 ; Name:Forkhead box F1 ; Symbol:FOXF1 ; xref: ENSEMBL:ENSG00000103241 ; xref: GENATLAS:FOXF1 ; xref: HGNC:3809 ; xref: OMIM:601089 ; xref: UNIPROTKB/SWISSPROT:Q12946] Alveolar capillary dysplasia with misalignment of pulmonary veins Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 OMIM:265380 EXACT Alveolar capillary dysplasia with misalignment of pulmonary veins EXACT Alveolar capillary dysplasia with misalignment of pulmonary vessels Urocanic aciduria Encephalopathy due to urocanase deficiency OMIM:276880 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 Gene [OrphaNum:212917 ; Name:Urocanase domain containing 1 ; Symbol:UROC1 ; xref: ENSEMBL:ENSG00000159650 ; xref: REACTOME:Q96N76 ; xref: GENATLAS:UROC1 ; xref: HGNC:26444 ; xref: OMIM:613012 ; xref: UNIPROTKB/SWISSPROT:Q96N76] Orphanet ID- 18685 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Encephalopathy due to urocanase deficiency ICD10:E70.8 EXACT Encephalopathy due to urocanase deficiency Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 18686 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133 Inherited congenital spastic tetraplegia Gene [OrphaNum:160296 ; Name:KN motif and ankyrin repeat domains 1 ; Symbol:KANK1 ; xref: GENATLAS:KANK1 ; xref: HGNC:19309 ; xref: OMIM:607704 ; xref: UNIPROTKB/SWISSPROT:Q14678 ; xref: ENSEMBL:ENSG00000107104] Gene [OrphaNum:270043 ; Name:glutamate decarboxylase 1 (brain, 67kDa) ; Symbol:GAD1 ; xref: REACTOME:Q99259 ; xref: ENSEMBL:ENSG00000128683 ; xref: HGNC:4092 ; xref: OMIM:605363 ; xref: UNIPROTKB/SWISSPROT:Q99259 ; xref: GENATLAS:GAD1] OMIM:612900 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141 Orphanet ID- 18688 OMIM:603513 Lethal polymalformative syndrome, Boissel type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 18689 Gene [OrphaNum:212927 ; Name:Fat mass and obesity associated ; Symbol:FTO ; xref: ENSEMBL:ENSG00000140718 ; xref: GENATLAS:FTO ; xref: HGNC:24678 ; xref: OMIM:610966 ; xref: UNIPROTKB/SWISSPROT:Q9C0B1] OMIM:612938 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144 Congenital lethal myopathy, Compton-North type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 ICD10:G71.2 Gene [OrphaNum:212878 ; Name:Contactin 1 ; Symbol:CNTN1 ; xref: GENATLAS:CNTN1 ; xref: HGNC:2171 ; xref: OMIM:600016 ; xref: UNIPROTKB/SWISSPROT:Q12860 ; xref: ENSEMBL:ENSG00000018236 ; xref: REACTOME:Q12860] OMIM:612540 Orphanet ID- 18691 Macrocephaly-autism syndrome OMIM:605309 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 Orphanet ID- 18693 Myoclonic dystonia 15 DYT15 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 18694 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210566 OMIM:607488 DYT15 ICD10:G24.1 EXACT DYT15 Dystonia 16 DYT16 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 Orphanet ID- 18695 OMIM:612067 Gene [OrphaNum:213048 ; Name:Protein kinase, interferon-inducible double stranded RNA dependent activator ; Symbol:PRKRA ; xref: OMIM:603424 ; xref: UNIPROTKB/SWISSPROT:O75569 ; xref: ENSEMBL:ENSG00000180228 ; xref: GENATLAS:PRKRA ; xref: HGNC:9438] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G24.1 DYT16 EXACT DYT16 Aminopterin/methotrexate embryofetopathy Aminopterin embryopathy syndrome Fetal aminopterin syndrome Orphanet ID- 1870 Fetal aminopterin syndrome ICD10:Q86.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 Aminopterin embryopathy syndrome EXACT Fetal aminopterin syndrome EXACT Aminopterin embryopathy syndrome Spinocerebellar ataxia type 30 SCA30 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 OMIM:613371 ICD10:G11 Orphanet ID- 18704 Gene [OrphaNum:212618 ; Name:Spinocerebellar ataxia 30 ; Symbol:SCA30 ; xref: HGNC:33445] SCA30 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT SCA30 Autosomal dominant proximal spinal muscular atrophy Orphanet ID- 18705 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211037 Hereditary episodic ataxia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18708 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211062 Episodic ataxia type 5 Orphanet ID- 18709 OMIM:613855 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G11.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067 Gene [OrphaNum:119168 ; Name:Calcium channel, voltage-dependent, beta 4 subunit ; Symbol:CACNB4 ; xref: ENSEMBL:ENSG00000182389 ; xref: REACTOME:O00305 ; xref: GENATLAS:CACNB4 ; xref: HGNC:1404 ; xref: OMIM:601949 ; xref: UNIPROTKB/SWISSPROT:O00305] Indomethacin embryofetopathy Fetal indomethacin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 ICD10:Q86.8 Orphanet ID- 1871 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Fetal indomethacin syndrome EXACT Fetal indomethacin syndrome Genetic vascular anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211240 Orphanet ID- 18711 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Fetal iodine syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 OMIM:228355 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:P72.2 Orphanet ID- 1872 Cocaine embryofetopathy Fetal cocaine syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 ICD10:P04.4 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q86.8 Fetal cocaine syndrome Orphanet ID- 1873 EXACT Fetal cocaine syndrome Fetal minoxidil syndrome Minoxidil antenatal infection Minoxidil antenatal infection Orphanet ID- 1874 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q86.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 EXACT Minoxidil antenatal infection Familial ovarian cancer Orphanet ID- 18744 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213517 Hereditary site-specific ovarian cancer syndrome Orphanet ID- 18745 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213524 Fetal hydantoin syndrome Fetal dihydantoin syndrome Phenytoin embryofetopathy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:121574 ; Name:Epoxide hydrolase 1, microsomal (xenobiotic) ; Symbol:EPHX1 ; xref: GENATLAS:EPHX1 ; xref: HGNC:3401 ; xref: OMIM:132810 ; xref: UNIPROTKB/SWISSPROT:P07099 ; xref: ENSEMBL:ENSG00000143819] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 Phenytoin embryofetopathy OMIM:132810 ICD10:Q86.1 Orphanet ID- 1875 Fetal dihydantoin syndrome EXACT Fetal dihydantoin syndrome EXACT Phenytoin embryofetopathy Fetal trimethadione syndrome Trimethadione antenatal infection Orphanet ID- 1876 ICD10:Q86.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 Trimethadione antenatal infection prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Trimethadione antenatal infection Embryofetopathy due to oral anticoagulant therapy Coumarin embryopathy Fetal warfarin syndrome Vitamin K antagonists embryofetopathy Fetal warfarin syndrome Orphanet ID- 1877 Vitamin K antagonists embryofetopathy Coumarin embryopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 ICD10:Q86.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Vitamin K antagonists embryofetopathy EXACT Coumarin embryopathy EXACT Fetal warfarin syndrome Prelingual nonsyndromic genetic deafness Isolated prelingual genetic deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216445 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive; Orphanet ID- 18785 Isolated prelingual genetic deafness EXACT Isolated prelingual genetic deafness Postlingual nonsyndromic genetic deafness Isolated postlingual genetic deafness Isolated postlingual genetic deafness Orphanet ID- 18786 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216452 EXACT Isolated postlingual genetic deafness Isolated congenitally uncorrected transposition of the great arteries Isolated congenitally uncorrected transposition of the great vessels Orphanet ID- 18789 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; ICD10:Q20.3 Isolated congenitally uncorrected transposition of the great vessels Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 EXACT Isolated congenitally uncorrected transposition of the great vessels Congenitally uncorrected transposition of the great arteries with cardiac malformation Congenitally uncorrected transposition of the great vessels with cardiac malformation TGA with cardiac malformation TGA with cardiac malformation Orphanet ID- 18790 ICD10:Q20.3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Congenitally uncorrected transposition of the great vessels with cardiac malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 EXACT Congenitally uncorrected transposition of the great vessels with cardiac malformation EXACT TGA with cardiac malformation Osteogenesis imperfecta type 1 Adair-Dighton syndrome OI type 1 Van der Hoeve syndrome ICD10:Q78.0 Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] Van der Hoeve syndrome Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123] OMIM:166230 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 OMIM:166200 Adair-Dighton syndrome OI type 1 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 18791 EXACT Van der Hoeve syndrome EXACT Adair-Dighton syndrome EXACT OI type 1 Osteogenesis imperfecta type 2 OI type 2 OI type 2 Orphanet ID- 18792 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 OMIM:166210 ICD10:Q78.0 Gene [OrphaNum:138843 ; Name:Leucine proline-enriched proteoglycan (leprecan) 1 ; Symbol:LEPRE1 ; xref: GENATLAS:LEPRE1 ; xref: HGNC:19316 ; xref: OMIM:610339 ; xref: UNIPROTKB/SWISSPROT:Q32P28 ; xref: ENSEMBL:ENSG00000117385] Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123] Gene [OrphaNum:138847 ; Name:Cartilage associated protein ; Symbol:CRTAP ; xref: GENATLAS:CRTAP ; xref: HGNC:2379 ; xref: OMIM:605497 ; xref: UNIPROTKB/SWISSPROT:O75718 ; xref: ENSEMBL:ENSG00000170275] OMIM:610682 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] OMIM:610915 Gene [OrphaNum:217124 ; Name:Peptidylprolyl isomerase B (cyclophilin B) ; Symbol:PPIB ; xref: ENSEMBL:ENSG00000166794 ; xref: GENATLAS:PPIB ; xref: HGNC:9255 ; xref: OMIM:123841 ; xref: UNIPROTKB/SWISSPROT:P23284] OMIM:259440 EXACT OI type 2 Osteogenesis imperfecta type 3 OI type 3 Gene [OrphaNum:138847 ; Name:Cartilage associated protein ; Symbol:CRTAP ; xref: GENATLAS:CRTAP ; xref: HGNC:2379 ; xref: OMIM:605497 ; xref: UNIPROTKB/SWISSPROT:O75718 ; xref: ENSEMBL:ENSG00000170275] OMIM:613848 Gene [OrphaNum:265490 ; Name:serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 ; Symbol:SERPINF1 ; xref: GENATLAS:SERPINF1 ; xref: GENATLAS:P36955 ; xref: ENSEMBL:ENSG00000132386 ; xref: HGNC:8824 ; xref: OMIM:172860] Gene [OrphaNum:217124 ; Name:Peptidylprolyl isomerase B (cyclophilin B) ; Symbol:PPIB ; xref: ENSEMBL:ENSG00000166794 ; xref: GENATLAS:PPIB ; xref: HGNC:9255 ; xref: OMIM:123841 ; xref: UNIPROTKB/SWISSPROT:P23284] Gene [OrphaNum:227095 ; Name:Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) ; Symbol:SERPINH1 ; xref: GENATLAS:SERPINH1 ; xref: HGNC:1546 ; xref: OMIM:600943 ; xref: UNIPROTKB/SWISSPROT:P50454 ; xref: ENSEMBL:ENSG00000149257] OMIM:610682 OMIM:259420 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 OMIM:259440 Gene [OrphaNum:287069 ; Name:Bone morphogenetic protein 1 ; Symbol:BMP1 ; xref: HGNC:1067 ; xref: OMIM:112264 ; xref: GENATLAS:BMP1 ; xref: UNIPROTKB/SWISSPROT:P13497 ; xref: REACTOME:P13497 ; xref: ENSEMBL:ENSG00000168487] Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123] OMIM:610915 ICD10:Q78.0 OI type 3 OMIM:613982 Gene [OrphaNum:138843 ; Name:Leucine proline-enriched proteoglycan (leprecan) 1 ; Symbol:LEPRE1 ; xref: GENATLAS:LEPRE1 ; xref: HGNC:19316 ; xref: OMIM:610339 ; xref: UNIPROTKB/SWISSPROT:Q32P28 ; xref: ENSEMBL:ENSG00000117385] Orphanet ID- 18793 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT OI type 3 Osteogenesis imperfecta type 4 OI type 4 OMIM:613849 Gene [OrphaNum:236638 ; Name:Sp7 transcription factor ; Symbol:SP7 ; xref: HGNC:17321 ; xref: GENATLAS:SP7 ; xref: OMIM:606633 ; xref: UNIPROTKB/SWISSPROT:Q8TDD2 ; xref: ENSEMBL:ENSG00000170374] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:138847 ; Name:Cartilage associated protein ; Symbol:CRTAP ; xref: GENATLAS:CRTAP ; xref: HGNC:2379 ; xref: OMIM:605497 ; xref: UNIPROTKB/SWISSPROT:O75718 ; xref: ENSEMBL:ENSG00000170275] Orphanet ID- 18794 OI type 4 OMIM:166220 Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123] OMIM:259440 ICD10:Q78.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 OMIM:610682 Gene [OrphaNum:217124 ; Name:Peptidylprolyl isomerase B (cyclophilin B) ; Symbol:PPIB ; xref: ENSEMBL:ENSG00000166794 ; xref: GENATLAS:PPIB ; xref: HGNC:9255 ; xref: OMIM:123841 ; xref: UNIPROTKB/SWISSPROT:P23284] Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] EXACT OI type 4 Osteogenesis imperfecta type 5 OI type 5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 OMIM:610968 OMIM:610967 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:233035 ; Name:FK506 binding protein 10, 65 kDa ; Symbol:FKBP10 ; xref: ENSEMBL:ENSG00000141756 ; xref: HGNC:18169 ; xref: GENATLAS:FKBP10 ; xref: UNIPROTKB/SWISSPROT:Q96AY3 ; xref: OMIM:607063] OI type 5 Orphanet ID- 18795 ICD10:Q78.0 EXACT OI type 5 Classic pantothenate kinase associated neurodegeneration NBIA1, classic form Neurodegeneration with brain iron accumulation type 1, classic form PKAN, classic form prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Neurodegeneration with brain iron accumulation type 1, classic form PKAN, classic form Orphanet ID- 18796 NBIA1, classic form OMIM:607236 Gene [OrphaNum:124070 ; Name:Pantothenate kinase 2 (Hallervorden-Spatz syndrome) ; Symbol:PANK2 ; xref: GENATLAS:PANK2 ; xref: HGNC:15894 ; xref: OMIM:606157 ; xref: UNIPROTKB/SWISSPROT:Q9BZ23 ; xref: REACTOME:Q9BZ23 ; xref: ENSEMBL:ENSG00000125779] ICD10:G23.0 OMIM:234200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 EXACT NBIA1, classic form EXACT Neurodegeneration with brain iron accumulation type 1, classic form EXACT PKAN, classic form Atypical pantothenate kinase associated neurodegeneration NBIA1, atypical form Neurodegeneration with brain iron accumulation type 1, atypical form PKAN, atypical form ICD10:G23.0 Gene [OrphaNum:124070 ; Name:Pantothenate kinase 2 (Hallervorden-Spatz syndrome) ; Symbol:PANK2 ; xref: GENATLAS:PANK2 ; xref: HGNC:15894 ; xref: OMIM:606157 ; xref: UNIPROTKB/SWISSPROT:Q9BZ23 ; xref: REACTOME:Q9BZ23 ; xref: ENSEMBL:ENSG00000125779] PKAN, atypical form OMIM:234200 Orphanet ID- 18797 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 NBIA1, atypical form Neurodegeneration with brain iron accumulation type 1, atypical form EXACT PKAN, atypical form EXACT Neurodegeneration with brain iron accumulation type 1, atypical form EXACT NBIA1, atypical form Fetal methylmercury syndrome Methyl mercury antenatal infection Minamata disease Methyl mercury antenatal infection Minamata disease ICD10:T56.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 1880 EXACT Minamata disease EXACT Methyl mercury antenatal infection Niemann-Pick disease type C, severe perinatal Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 Gene [OrphaNum:123870 ; Name:Niemann-Pick disease, type C2 ; Symbol:NPC2 ; xref: OMIM:601015 ; xref: UNIPROTKB/SWISSPROT:P61916 ; xref: GENATLAS:NPC2 ; xref: HGNC:14537 ; xref: ENSEMBL:ENSG00000119655] OMIM:257220 Orphanet ID- 18801 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123868 ; Name:Niemann-Pick disease, type C1 ; Symbol:NPC1 ; xref: GENATLAS:NPC1 ; xref: HGNC:7897 ; xref: OMIM:607623 ; xref: UNIPROTKB/SWISSPROT:O15118 ; xref: ENSEMBL:ENSG00000141458] OMIM:607625 ICD10:E75.2 Niemann-Pick disease type C, severe early infantile neurologic onset Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 Gene [OrphaNum:123870 ; Name:Niemann-Pick disease, type C2 ; Symbol:NPC2 ; xref: OMIM:601015 ; xref: UNIPROTKB/SWISSPROT:P61916 ; xref: GENATLAS:NPC2 ; xref: HGNC:14537 ; xref: ENSEMBL:ENSG00000119655] OMIM:607625 Gene [OrphaNum:123868 ; Name:Niemann-Pick disease, type C1 ; Symbol:NPC1 ; xref: GENATLAS:NPC1 ; xref: HGNC:7897 ; xref: OMIM:607623 ; xref: UNIPROTKB/SWISSPROT:O15118 ; xref: ENSEMBL:ENSG00000141458] OMIM:257220 ICD10:E75.2 Orphanet ID- 18802 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Niemann-Pick disease type C, late infantile neurologic onset ICD10:E75.2 Gene [OrphaNum:123868 ; Name:Niemann-Pick disease, type C1 ; Symbol:NPC1 ; xref: GENATLAS:NPC1 ; xref: HGNC:7897 ; xref: OMIM:607623 ; xref: UNIPROTKB/SWISSPROT:O15118 ; xref: ENSEMBL:ENSG00000141458] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 OMIM:257220 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 18803 OMIM:607625 Gene [OrphaNum:123870 ; Name:Niemann-Pick disease, type C2 ; Symbol:NPC2 ; xref: OMIM:601015 ; xref: UNIPROTKB/SWISSPROT:P61916 ; xref: GENATLAS:NPC2 ; xref: HGNC:14537 ; xref: ENSEMBL:ENSG00000119655] Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick disease type C, classic form ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 OMIM:257220 Orphanet ID- 18804 Gene [OrphaNum:123868 ; Name:Niemann-Pick disease, type C1 ; Symbol:NPC1 ; xref: GENATLAS:NPC1 ; xref: HGNC:7897 ; xref: OMIM:607623 ; xref: UNIPROTKB/SWISSPROT:O15118 ; xref: ENSEMBL:ENSG00000141458] OMIM:607625 Niemann-Pick disease type C, classic form prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123870 ; Name:Niemann-Pick disease, type C2 ; Symbol:NPC2 ; xref: OMIM:601015 ; xref: UNIPROTKB/SWISSPROT:P61916 ; xref: GENATLAS:NPC2 ; xref: HGNC:14537 ; xref: ENSEMBL:ENSG00000119655] EXACT Niemann-Pick disease type C, classic form Niemann-Pick disease type C, adult neurologic onset prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:257220 Gene [OrphaNum:123868 ; Name:Niemann-Pick disease, type C1 ; Symbol:NPC1 ; xref: GENATLAS:NPC1 ; xref: HGNC:7897 ; xref: OMIM:607623 ; xref: UNIPROTKB/SWISSPROT:O15118 ; xref: ENSEMBL:ENSG00000141458] ICD10:E75.2 Orphanet ID- 18805 OMIM:607625 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 Gene [OrphaNum:123870 ; Name:Niemann-Pick disease, type C2 ; Symbol:NPC2 ; xref: OMIM:601015 ; xref: UNIPROTKB/SWISSPROT:P61916 ; xref: GENATLAS:NPC2 ; xref: HGNC:14537 ; xref: ENSEMBL:ENSG00000119655] Autosomal dominant dystrophic epidermolysis bullosa, Pasini type DDEB, Pasini type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216989 OMIM:131750 DDEB, Pasini type ICD10:Q81.2 Orphanet ID- 18806 Gene [OrphaNum:120738 ; Name:Collagen, type VII, alpha 1 ; Symbol:COL7A1 ; xref: GENATLAS:COL7A1 ; xref: HGNC:2214 ; xref: OMIM:120120 ; xref: UNIPROTKB/SWISSPROT:Q02388 ; xref: ENSEMBL:ENSG00000114270] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT DDEB, Pasini type Spinocerebellar ataxia type 31 SCA31 OMIM:117210 Gene [OrphaNum:236636 ; Name:Spinocerebellar ataxia 31 ; Symbol:SCA31 ; xref: HGNC:35432 ; xref: OMIM:117210] SCA31 Orphanet ID- 18808 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G11 EXACT SCA31 Zechi-Ceide syndrome Occipital atretic cephalocele - unusual facies - large feet OMIM:612916 Orphanet ID- 18809 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 Occipital atretic cephalocele - unusual facies - large feet prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Occipital atretic cephalocele - unusual facies - large feet Phenobarbital embryopathy Phenobarbital antenatal infection prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 Phenobarbital antenatal infection Orphanet ID- 1881 ICD10:Q86.8 EXACT Phenobarbital antenatal infection Atypical hemolytic uremic syndrome with thrombomodulin anomaly prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:612926 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217023 Gene [OrphaNum:120088 ; Name:Thrombomodulin ; Symbol:THBD ; xref: GENATLAS:THBD ; xref: HGNC:11784 ; xref: OMIM:188040 ; xref: UNIPROTKB/SWISSPROT:P07204 ; xref: REACTOME:P07204 ; xref: ENSEMBL:ENSG00000178726] Orphanet ID- 18810 ICD10:D58.8 Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type Hadziselimovic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 Orphanet ID- 18811 OMIM:612946 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Hadziselimovic syndrome EXACT Hadziselimovic syndrome Obesity due MC3R deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217031 Orphanet ID- 18812 OMIM:602025 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Gene [OrphaNum:220900 ; Name:Melanocortin 3 receptor ; Symbol:MC3R ; xref: REACTOME:P41968 ; xref: IUPHAR:284 ; xref: ENSEMBL:ENSG00000124089 ; xref: GENATLAS:MC3R ; xref: HGNC:6931 ; xref: OMIM:155540 ; xref: UNIPROTKB/SWISSPROT:P41968] ICD10:E66.8 Male infertility with normal virilization due to meiosis defect Azoospermia due to maturation arrest Azoospermia due to meiosis defect Male infertility with normal virilization due to maturation arrest prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Unknown; Gene [OrphaNum:220903 ; Name:Synaptonemal complex protein 3 ; Symbol:SYCP3 ; xref: REACTOME:Q8IZU3 ; xref: ENSEMBL:ENSG00000139351 ; xref: GENATLAS:SYCP3 ; xref: HGNC:18130 ; xref: OMIM:604759 ; xref: UNIPROTKB/SWISSPROT:Q8IZU3] OMIM:270960 Gene [OrphaNum:304764 ; Name:Spermatogenesis and oogenesis specific basic helix-loop-helix 1 ; Symbol:SOHLH1 ; xref: HGNC:27845 ; xref: OMIM:610224 ; xref: GENATLAS:SOHLH1 ; xref: UNIPROTKB/SWISSPROT:Q5JUK2] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217034 Male infertility with normal virilization due to maturation arrest OMIM:309120 Orphanet ID- 18813 Azoospermia due to maturation arrest Azoospermia due to meiosis defect OMIM:258150 EXACT Azoospermia due to maturation arrest EXACT Azoospermia due to meiosis defect EXACT Male infertility with normal virilization due to maturation arrest Childhood-onset cortical cataract Gene [OrphaNum:235204 ; Name:Crystallin, gamma S ; Symbol:CRYGS ; xref: ENSEMBL:ENSG00000213139 ; xref: GENATLAS:CRYGS ; xref: HGNC:2417 ; xref: UNIPROTKB/SWISSPROT:P22914 ; xref: OMIM:123730] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217046 Gene [OrphaNum:160055 ; Name:Beaded filament structural protein 1, filensin ; Symbol:BFSP1 ; xref: GENATLAS:BFSP1 ; xref: HGNC:1040 ; xref: OMIM:603307 ; xref: UNIPROTKB/SWISSPROT:Q12934 ; xref: ENSEMBL:ENSG00000125864] Orphanet ID- 18814 OMIM:611391 Rare non-syndromic cataract prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18815 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217049 Early-onset non-syndromic cataract Orphanet ID- 18816 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217052 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal recessive intermediate Charcot-Marie-Tooth disease type A RI-CMT type A prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 18817 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 ICD10:G60.0 Gene [OrphaNum:122064 ; Name:Ganglioside-induced differentiation-associated protein 1 ; Symbol:GDAP1 ; xref: GENATLAS:GDAP1 ; xref: HGNC:15968 ; xref: OMIM:606598 ; xref: UNIPROTKB/SWISSPROT:Q8TB36 ; xref: ENSEMBL:ENSG00000104381] OMIM:608340 RI-CMT type A EXACT RI-CMT type A Isolated congenital digital clubbing Isolated congenital acropachy Isolated congenital nail clubbing Orphanet ID- 18818 Isolated congenital nail clubbing prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:Q68.1 Isolated congenital acropachy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 Gene [OrphaNum:168077 ; Name:Hydroxyprostaglandin dehydrogenase 15-(NAD) ; Symbol:HPGD ; xref: GENATLAS:HPGD ; xref: HGNC:5154 ; xref: OMIM:601688 ; xref: UNIPROTKB/SWISSPROT:P15428 ; xref: ENSEMBL:ENSG00000164120] OMIM:119900 EXACT Isolated congenital acropachy EXACT Isolated congenital nail clubbing Toluene embryopathy Toluene antenatal infection ICD10:Q86.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 1882 Toluene antenatal infection EXACT Toluene antenatal infection Mucopolysaccharidosis type 2A Hunter syndrome type A Iduronate 2-sulfatase deficiency type A Gene [OrphaNum:122569 ; Name:Iduronate 2-sulfatase (Hunter syndrome) ; Symbol:IDS ; xref: GENATLAS:IDS ; xref: HGNC:5389 ; xref: UNIPROTKB/SWISSPROT:P22304 ; xref: OMIM:300823 ; xref: ENSEMBL:ENSG00000010404] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 18824 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 OMIM:309900 ICD10:E76.1 Hunter syndrome type A Iduronate 2-sulfatase deficiency type A EXACT Iduronate 2-sulfatase deficiency type A EXACT Hunter syndrome type A Mucopolysaccharidosis type 2B Hunter syndrome type B Iduronate 2-sulfatase deficiency type B OMIM:309900 Hunter syndrome type B Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; Iduronate 2-sulfatase deficiency type B ICD10:E76.1 Gene [OrphaNum:122569 ; Name:Iduronate 2-sulfatase (Hunter syndrome) ; Symbol:IDS ; xref: GENATLAS:IDS ; xref: HGNC:5389 ; xref: UNIPROTKB/SWISSPROT:P22304 ; xref: OMIM:300823 ; xref: ENSEMBL:ENSG00000010404] Orphanet ID- 18825 EXACT Iduronate 2-sulfatase deficiency type B EXACT Hunter syndrome type B BNAR syndrome Bifid nose with or without anorectal and renal anomalies prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 18829 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 Gene [OrphaNum:220909 ; Name:FRAS1 related extracellular matrix 1 ; Symbol:FREM1 ; xref: ENSEMBL:ENSG00000164946 ; xref: GENATLAS:FREM1 ; xref: HGNC:23399 ; xref: OMIM:608944 ; xref: UNIPROTKB/SWISSPROT:Q5H8C1] OMIM:608980 Bifid nose with or without anorectal and renal anomalies EXACT Bifid nose with or without anorectal and renal anomalies Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness Cutis verticis gyrata - retinitis pigmentosa - neurosensory deafness Cutis verticis gyrata - retinitis pigmentosa - neurosensory hearing loss Cutis verticis gyrata - retinitis pigmentosa - sensorineural hearing loss Cutis verticis gyrata - retinitis pigmentosa - neurosensory hearing loss Gene [OrphaNum:120476 ; Name:Vacuolar protein sorting 13 homolog B (yeast) ; Symbol:VPS13B ; xref: ENSEMBL:ENSG00000132549 ; xref: GENATLAS:VPS13B ; xref: HGNC:2183 ; xref: OMIM:607817 ; xref: UNIPROTKB/SWISSPROT:Q7Z7G8] OMIM:605685 Cutis verticis gyrata - retinitis pigmentosa - sensorineural hearing loss Cutis verticis gyrata - retinitis pigmentosa - neurosensory deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217315 Orphanet ID- 18844 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Cutis verticis gyrata - retinitis pigmentosa - neurosensory deafness EXACT Cutis verticis gyrata - retinitis pigmentosa - neurosensory hearing loss EXACT Cutis verticis gyrata - retinitis pigmentosa - sensorineural hearing loss Hyperuricemia - anemia - renal failure FJHN type 2 Familial juvenile hyperuricemic nephropathy type 2 REN-associated FJHN REN-associated familial juvenile hyperuricemic nephropathy REN-associated kidney disease REN-associated kidney disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 REN-associated FJHN Orphanet ID- 18845 REN-associated familial juvenile hyperuricemic nephropathy Familial juvenile hyperuricemic nephropathy type 2 FJHN type 2 OMIM:613092 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:138530 ; Name:Renin ; Symbol:REN ; xref: GENATLAS:REN ; xref: HGNC:9958 ; xref: OMIM:179820 ; xref: UNIPROTKB/SWISSPROT:P00797 ; xref: ENSEMBL:ENSG00000143839] EXACT REN-associated FJHN EXACT Familial juvenile hyperuricemic nephropathy type 2 EXACT REN-associated familial juvenile hyperuricemic nephropathy EXACT FJHN type 2 EXACT REN-associated kidney disease MACS syndrome Macrocephaly - alopecia - cutis laxa - scoliosis Macrocephaly - alopecia - cutis laxa - scoliosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:220916 ; Name:Ras and Rab interactor 2 ; Symbol:RIN2 ; xref: ENSEMBL:ENSG00000132669 ; xref: GENATLAS:RIN2 ; xref: HGNC:18750 ; xref: OMIM:610222 ; xref: UNIPROTKB/SWISSPROT:Q8WYP3] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 Orphanet ID- 18846 OMIM:613075 EXACT Macrocephaly - alopecia - cutis laxa - scoliosis 17q21.31 microduplication syndrome Dup(17)(q21.31) Trisomy 17q21.31 Dup(17)(q21.31) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 Orphanet ID- 18847 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Trisomy 17q21.31 ICD10:Q92.3 OMIM:613533 EXACT Trisomy 17q21.31 EXACT Dup(17)(q21.31) 19q13.11 microdeletion syndrome Del(19)(q13.11) Monosomy 19q13.11 ICD10:Q93.5 Del(19)(q13.11) Monosomy 19q13.11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; OMIM:613026 Orphanet ID- 18848 EXACT Monosomy 19q13.11 EXACT Del(19)(q13.11) Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect OMIM:613070 Gene [OrphaNum:120293 ; Name:TRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ; Symbol:TRMU ; xref: UNIPROTKB/SWISSPROT:O75648 ; xref: GENATLAS:TRMU ; xref: HGNC:25481 ; xref: OMIM:610230 ; xref: ENSEMBL:ENSG00000100416] Orphanet ID- 18849 Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 EXACT Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect Methimazole embryofetopathy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 Orphanet ID- 1885 ICD10:Q86.8 Microduplication Xp11.22-p11.23 syndrome Trisomy Xp11.22-p11.23 Orphanet ID- 18850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 Trisomy Xp11.22-p11.23 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Inheritance- X-linked dominant; OMIM:300801 EXACT Trisomy Xp11.22-p11.23 Neurodegenerative syndrome due to cerebral folate transport deficiency ICD10:G31.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 Orphanet ID- 18851 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:220919 ; Name:Folate receptor 1 (adult) ; Symbol:FOLR1 ; xref: ENSEMBL:ENSG00000110195 ; xref: GENATLAS:FOLR1 ; xref: HGNC:3791 ; xref: OMIM:136430 ; xref: UNIPROTKB/SWISSPROT:P15328] OMIM:613068 17p13.3 microduplication syndrome 17p13.3 duplication syndrome Dup(17)(p13.3) Trisomy 17p13.3 OMIM:613215 Trisomy 17p13.3 Dup(17)(p13.3) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 ICD10:Q92.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; 17p13.3 duplication syndrome Gene [OrphaNum:124062 ; Name:Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa ; Symbol:PAFAH1B1 ; xref: GENATLAS:PAFAH1B1 ; xref: HGNC:8574 ; xref: OMIM:601545 ; xref: UNIPROTKB/SWISSPROT:P43034 ; xref: REACTOME:P43034 ; xref: ENSEMBL:ENSG00000007168] Orphanet ID- 18852 Gene [OrphaNum:269928 ; Name:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide ; Symbol:YWHAE ; xref: REACTOME:P62258 ; xref: ENSEMBL:ENSG00000108953 ; xref: UNIPROTKB/SWISSPROT:P62258 ; xref: HGNC:12851 ; xref: OMIM:605066 ; xref: GENATLAS:YWHAE] EXACT Trisomy 17p13.3 EXACT 17p13.3 duplication syndrome EXACT Dup(17)(p13.3) Severe combined immunodeficiency due to DOCK8 deficiency SCID due to DOCK8 deficiency Severe combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency Gene [OrphaNum:220922 ; Name:Dedicator of cytokinesis 8 ; Symbol:DOCK8 ; xref: ENSEMBL:ENSG00000107099 ; xref: REACTOME:Q8NF50 ; xref: GENATLAS:DOCK8 ; xref: HGNC:19191 ; xref: OMIM:611432 ; xref: UNIPROTKB/SWISSPROT:Q8NF50] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:243700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217390 SCID due to DOCK8 deficiency Severe combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency Orphanet ID- 18853 EXACT Severe combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency EXACT SCID due to DOCK8 deficiency Progressive demyelinating neuropathy with bilateral striatal necrosis Orphanet ID- 18854 Gene [OrphaNum:118794 ; Name:Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 ; Symbol:SLC25A19 ; xref: GENATLAS:SLC25A19 ; xref: HGNC:14409 ; xref: OMIM:606521 ; xref: UNIPROTKB/SWISSPROT:Q9HC21 ; xref: ENSEMBL:ENSG00000125454] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 OMIM:613710 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Hereditary hypotrichosis with recurrent skin vesicles Orphanet ID- 18856 OMIM:613102 Gene [OrphaNum:220928 ; Name:Desmocollin 3 ; Symbol:DSC3 ; xref: ENSEMBL:ENSG00000134762 ; xref: HGNC:3037 ; xref: OMIM:600271 ; xref: UNIPROTKB/SWISSPROT:Q14574 ; xref: GENATLAS:DSC3] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 Rare hereditary thrombophilia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454 Orphanet ID- 18858 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Hereditary thrombophilia due to congenital HRG deficiency Orphanet ID- 18859 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 Gene [OrphaNum:220905 ; Name:Histidine-rich glycoprotein ; Symbol:HRG ; xref: ENSEMBL:ENSG00000113905 ; xref: REACTOME:P04196 ; xref: GENATLAS:HRG ; xref: HGNC:5181 ; xref: OMIM:142640 ; xref: UNIPROTKB/SWISSPROT:P04196] Hereditary thrombophilia due to congenital HRG deficiency ICD10:D68.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:613116 EXACT Hereditary thrombophilia due to congenital HRG deficiency Neonatal acute respiratory distress with surfactant metabolism deficiency Orphanet ID- 18862 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 Gene [OrphaNum:118643 ; Name:Surfactant, pulmonary-associated protein C ; Symbol:SFTPC ; xref: GENATLAS:SFTPC ; xref: HGNC:10802 ; xref: OMIM:178620 ; xref: UNIPROTKB/SWISSPROT:P11686 ; xref: ENSEMBL:ENSG00000168484] Gene [OrphaNum:118639 ; Name:Surfactant, pulmonary-associated protein B ; Symbol:SFTPB ; xref: GENATLAS:SFTPB ; xref: HGNC:10801 ; xref: OMIM:178640 ; xref: UNIPROTKB/SWISSPROT:P07988 ; xref: ENSEMBL:ENSG00000168878] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Chronic respiratory distress with surfactant metabolism deficiency OMIM:610913 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 Gene [OrphaNum:118643 ; Name:Surfactant, pulmonary-associated protein C ; Symbol:SFTPC ; xref: GENATLAS:SFTPC ; xref: HGNC:10802 ; xref: OMIM:178620 ; xref: UNIPROTKB/SWISSPROT:P11686 ; xref: ENSEMBL:ENSG00000168484] Orphanet ID- 18863 Glycogen storage disease with hypertrophic cardiomyopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572 Orphanet ID- 18865 Lysosomal disease with hypertrophic cardiomyopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581 Orphanet ID- 18866 Mitochondrial disease with hypertrophic cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587 Orphanet ID- 18868 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Orphanet ID- 18869 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591 Syndrome associated with hypertrophic cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595 Orphanet ID- 18870 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial dilated cardiomyopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217607 Orphanet ID- 18874 Neuromuscular disease with dilated cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18875 Mitochondrial disease with dilated cardiomyopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613 Orphanet ID- 18876 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616 Orphanet ID- 18877 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndrome associated with dilated cardiomyopathy Orphanet ID- 18878 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Sensorineural deafness with dilated cardiomyopathy Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Sensorineural hearing loss with dilated cardiomyopathy Sensorineural hearing loss with dilated cardiomyopathy Orphanet ID- 18879 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Neurosensory hearing loss with dilated cardiomyopathy Gene [OrphaNum:121654 ; Name:Eyes absent homolog 4 (Drosophila) ; Symbol:EYA4 ; xref: GENATLAS:EYA4 ; xref: HGNC:3522 ; xref: OMIM:603550 ; xref: UNIPROTKB/SWISSPROT:O95677 ; xref: ENSEMBL:ENSG00000112319] Neurosensory deafness with dilated cardiomyopathy OMIM:605362 EXACT Neurosensory deafness with dilated cardiomyopathy EXACT Neurosensory hearing loss with dilated cardiomyopathy EXACT Sensorineural hearing loss with dilated cardiomyopathy Diabetic embryopathy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 1888 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 ICD10:P00.8 Familial restrictive cardiomyopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217635 Orphanet ID- 18882 Lysosomal disease with restrictive cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638 Orphanet ID- 18883 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial isolated arrhythmogenic right ventricular dysplasia Familial isolated ARVC Familial isolated ARVD Familial isolated arrhythmogenic right ventricular cardiomyopathy Familial isolated arrhythmogenic ventricular cardiomyopathy Familial isolated arrhythmogenic ventricular dysplasia OMIM:600996 OMIM:609160 OMIM:609040 OMIM:610476 OMIM:611528 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial isolated arrhythmogenic ventricular dysplasia OMIM:107970 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 Familial isolated arrhythmogenic ventricular cardiomyopathy OMIM:602087 OMIM:602086 Familial isolated ARVC Familial isolated ARVD Orphanet ID- 18885 Familial isolated arrhythmogenic right ventricular cardiomyopathy OMIM:607450 OMIM:604401 OMIM:604400 OMIM:610193 EXACT Familial isolated arrhythmogenic ventricular cardiomyopathy EXACT Familial isolated ARVD EXACT Familial isolated arrhythmogenic ventricular dysplasia EXACT Familial isolated ARVC EXACT Familial isolated arrhythmogenic right ventricular cardiomyopathy Maternal hyperphenylalaninemia Hyperphenylalaninemic embryopathy Maternal PKU Maternal phenylketonuria Phenylketonuric embryopathy prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 ICD10:P00.8 Hyperphenylalaninemic embryopathy OMIM:261600 Maternal phenylketonuria ICD10:E70.1 Gene [OrphaNum:124068 ; Name:Phenylalanine hydroxylase ; Symbol:PAH ; xref: GENATLAS:PAH ; xref: HGNC:8582 ; xref: OMIM:612349 ; xref: UNIPROTKB/SWISSPROT:P00439 ; xref: REACTOME:P00439 ; xref: ENSEMBL:ENSG00000171759] Orphanet ID- 1889 Maternal PKU Phenylketonuric embryopathy EXACT Phenylketonuric embryopathy EXACT Maternal phenylketonuria EXACT Maternal PKU EXACT Hyperphenylalaninemic embryopathy Familial restrictive cardiomyopathy type 3 RCM3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18897 RCM3 OMIM:612422 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218432 Gene [OrphaNum:120190 ; Name:Troponin T type 2 (cardiac) ; Symbol:TNNT2 ; xref: GENATLAS:TNNT2 ; xref: HGNC:11949 ; xref: OMIM:191045 ; xref: UNIPROTKB/SWISSPROT:P45379 ; xref: ENSEMBL:ENSG00000118194 ; xref: REACTOME:P45379] EXACT RCM3 Emery-Nelson syndrome Hand and foot deformity - flat facies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hand and foot deformity - flat facies OMIM:139750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927 Orphanet ID- 1890 EXACT Hand and foot deformity - flat facies Xeroderma pigmentosum/Cockayne syndrome complex XP/CS ICD10:Q82.1 Orphanet ID- 18903 OMIM:278780 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 XP/CS Gene [OrphaNum:132271 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 5 ; Symbol:ERCC5 ; xref: GENATLAS:ERCC5 ; xref: HGNC:3437 ; xref: OMIM:133530 ; xref: UNIPROTKB/SWISSPROT:P28715 ; xref: ENSEMBL:ENSG00000134899 ; xref: REACTOME:P28715] ICD10:Q87.1 Gene [OrphaNum:132264 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 3 ; Symbol:ERCC3 ; xref: GENATLAS:ERCC3 ; xref: HGNC:3435 ; xref: OMIM:133510 ; xref: UNIPROTKB/SWISSPROT:P19447 ; xref: ENSEMBL:ENSG00000163161 ; xref: REACTOME:P19447] Gene [OrphaNum:121590 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ; Symbol:ERCC2 ; xref: GENATLAS:ERCC2 ; xref: HGNC:3434 ; xref: OMIM:126340 ; xref: UNIPROTKB/SWISSPROT:P18074 ; xref: REACTOME:P18074 ; xref: ENSEMBL:ENSG00000104884] EXACT XP/CS Semilobar holoprosencephaly prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Gene [OrphaNum:120072 ; Name:TGFB-induced factor homeobox 1 ; Symbol:TGIF1 ; xref: GENATLAS:TGIF1 ; xref: HGNC:11776 ; xref: OMIM:602630 ; xref: UNIPROTKB/SWISSPROT:Q15583 ; xref: ENSEMBL:ENSG00000177426] Gene [OrphaNum:242325 ; Name:Dispatched homolog 1 (Drosophila) ; Symbol:DISP1 ; xref: GENATLAS:DISP1 ; xref: HGNC:19711 ; xref: OMIM:607502 ; xref: ENSEMBL:ENSG00000154309 ; xref: UNIPROTKB/SWISSPROT:Q96F81] Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047] Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 ICD10:Q04.2 Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083] Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] Gene [OrphaNum:120610 ; Name:Zic family member 2 (odd-paired homolog, Drosophila) ; Symbol:ZIC2 ; xref: GENATLAS:ZIC2 ; xref: HGNC:12873 ; xref: OMIM:603073 ; xref: UNIPROTKB/SWISSPROT:O95409 ; xref: ENSEMBL:ENSG00000043355] Gene [OrphaNum:159600 ; Name:Forkhead box H1 ; Symbol:FOXH1 ; xref: GENATLAS:FOXH1 ; xref: HGNC:3814 ; xref: OMIM:603621 ; xref: UNIPROTKB/SWISSPROT:O75593 ; xref: ENSEMBL:ENSG00000160973 ; xref: REACTOME:O75593] Gene [OrphaNum:285758 ; Name:Growth arrest-specific 1 ; Symbol:GAS1 ; xref: GENATLAS:GAS1 ; xref: HGNC:4165 ; xref: UNIPROTKB/SWISSPROT:P54826 ; xref: OMIM:139185 ; xref: ENSEMBL:ENSG00000180447] Gene [OrphaNum:279776 ; Name:Cdon homolog (mouse) ; Symbol:CDON ; xref: ENSEMBL:ENSG00000064309 ; xref: REACTOME:Q4KMG0 ; xref: HGNC:17104 ; xref: OMIM:608707 ; xref: UNIPROTKB/SWISSPROT:Q4KMG0 ; xref: GENATLAS:CDON] OMIM:236100 Gene [OrphaNum:281953 ; Name:Delta-like 1 (Drosophila) ; Symbol:DLL1 ; xref: ENSEMBL:ENSG00000198719 ; xref: REACTOME:O00548 ; xref: HGNC:2908 ; xref: OMIM:606582 ; xref: GENATLAS:DLL1 ; xref: UNIPROTKB/SWISSPROT:O00548] Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] Orphanet ID- 18904 Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920] Gene [OrphaNum:138518 ; Name:Teratocarcinoma-derived growth factor 1 ; Symbol:TDGF1 ; xref: GENATLAS:TDGF1 ; xref: HGNC:11701 ; xref: OMIM:187395 ; xref: UNIPROTKB/SWISSPROT:P13385 ; xref: ENSEMBL:ENSG00000241186 ; xref: REACTOME:P13385] Quebec platelet disorder Factor V Quebec Factor V Quebec Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601709 Orphanet ID- 18908 ICD10:D69.1 Gene [OrphaNum:223447 ; Name:Plasminogen activator, urokinase ; Symbol:PLAU ; xref: GENATLAS:PLAU ; xref: HGNC:9052 ; xref: OMIM:191840 ; xref: UNIPROTKB/SWISSPROT:P00749 ; xref: ENSEMBL:ENSG00000122861 ; xref: REACTOME:P00749] EXACT Factor V Quebec Bleeding diathesis due to thromboxane synthesis deficiency Orphanet ID- 18909 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443 OMIM:614158 OMIM:614009 Gene [OrphaNum:293114 ; Name:Thromboxane A2 receptor ; Symbol:TBXA2R ; xref: HGNC:11608 ; xref: OMIM:188070 ; xref: GENATLAS:TBXA2R ; xref: UNIPROTKB/SWISSPROT:P21731] Gene [OrphaNum:137959 ; Name:Thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) ; Symbol:TBXAS1 ; xref: GENATLAS:TBXAS1 ; xref: HGNC:11609 ; xref: OMIM:274180 ; xref: UNIPROTKB/SWISSPROT:P24557 ; xref: ENSEMBL:ENSG00000059377 ; xref: REACTOME:P24557] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D69.8 Macrothrombocytopenia with mitral valve insufficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D69.4 Orphanet ID- 18910 Inherited giant platelet disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220452 Orphanet ID- 18911 Attenuated familial adenomatous polyposis AFAP Attenuated FAP Attenuated familial polyposis coli Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 AFAP Orphanet ID- 18912 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Attenuated familial polyposis coli Attenuated FAP EXACT AFAP EXACT Attenuated FAP EXACT Attenuated familial polyposis coli Laron syndrome with immunodeficiency Laron-like syndrome Short stature due to STAT5b deficiency ICD10:D82.8 Short stature due to STAT5b deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 ICD10:E34.3 Laron-like syndrome Gene [OrphaNum:119882 ; Name:Signal transducer and activator of transcription 5B ; Symbol:STAT5B ; xref: GENATLAS:STAT5B ; xref: HGNC:11367 ; xref: OMIM:604260 ; xref: UNIPROTKB/SWISSPROT:P51692 ; xref: REACTOME:P51692 ; xref: ENSEMBL:ENSG00000173757] Orphanet ID- 18913 OMIM:245590 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Short stature due to STAT5b deficiency EXACT Laron-like syndrome Rare hereditary hemochromatosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 Orphanet ID- 18915 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Joubert syndrome with ocular defect JS-O Joubert syndrome with retinopathy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:608629 Joubert syndrome with retinopathy JS-O Orphanet ID- 18916 OMIM:614424 ICD10:Q04.3 Gene [OrphaNum:292992 ; Name:Centrosomal protein 41kDa ; Symbol:CEP41 ; xref: HGNC:12370 ; xref: OMIM:610523 ; xref: GENATLAS:CEP41 ; xref: UNIPROTKB/SWISSPROT:Q9BYV8] ICD10:H35.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 Gene [OrphaNum:268061 ; Name:kinesin family member 7 ; Symbol:KIF7 ; xref: HGNC:30497 ; xref: OMIM:611254 ; xref: GENATLAS:KIF7 ; xref: UNIPROTKB/SWISSPROT:Q2M1P5 ; xref: ENSEMBL:ENSG00000166813] Gene [OrphaNum:286631 ; Name:Transmembrane protein 237 ; Symbol:TMEM237 ; xref: GENATLAS:TMEM237 ; xref: UNIPROTKB/SWISSPROT:Q96Q45 ; xref: HGNC:14432 ; xref: OMIM:614423 ; xref: ENSEMBL:ENSG00000155755] OMIM:614464 Gene [OrphaNum:119549 ; Name:Abelson helper integration site 1 ; Symbol:AHI1 ; xref: GENATLAS:AHI1 ; xref: HGNC:21575 ; xref: OMIM:608894 ; xref: UNIPROTKB/SWISSPROT:Q8N157 ; xref: ENSEMBL:ENSG00000135541] EXACT Joubert syndrome with retinopathy EXACT JS-O Joubert syndrome with renal defect JS-R prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609583 ICD10:Q04.3 Gene [OrphaNum:286631 ; Name:Transmembrane protein 237 ; Symbol:TMEM237 ; xref: GENATLAS:TMEM237 ; xref: UNIPROTKB/SWISSPROT:Q96Q45 ; xref: HGNC:14432 ; xref: OMIM:614423 ; xref: ENSEMBL:ENSG00000155755] JS-R Orphanet ID- 18917 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 OMIM:614424 Gene [OrphaNum:118918 ; Name:Ataxin 10 ; Symbol:ATXN10 ; xref: GENATLAS:ATXN10 ; xref: HGNC:10549 ; xref: OMIM:611150 ; xref: UNIPROTKB/SWISSPROT:Q9UBB4 ; xref: ENSEMBL:ENSG00000130638] ICD10:Q61.5 OMIM:611560 Gene [OrphaNum:260361 ; Name:Tectonic family member 2 ; Symbol:TCTN2 ; xref: GENATLAS:TCTN2 ; xref: HGNC:25774 ; xref: OMIM:613846 ; xref: UNIPROTKB/SWISSPROT:Q96GX1 ; xref: ENSEMBL:ENSG00000168778] Gene [OrphaNum:140541 ; Name:RPGRIP1-like ; Symbol:RPGRIP1L ; xref: UNIPROTKB/SWISSPROT:Q68CZ1 ; xref: GENATLAS:RPGRIP1L ; xref: HGNC:29168 ; xref: OMIM:610937 ; xref: ENSEMBL:ENSG00000103494] Gene [OrphaNum:123874 ; Name:Nephronophthisis 1 (juvenile) ; Symbol:NPHP1 ; xref: GENATLAS:NPHP1 ; xref: HGNC:7905 ; xref: OMIM:607100 ; xref: UNIPROTKB/SWISSPROT:O15259 ; xref: ENSEMBL:ENSG00000144061] EXACT JS-R Rothmund-Thomson syndrome type 1 Poikiloderma of Rothmund-Thomson type 1 RTS1 OMIM:268400 Poikiloderma of Rothmund-Thomson type 1 RTS1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 Orphanet ID- 18929 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q82.8 EXACT Poikiloderma of Rothmund-Thomson type 1 EXACT RTS1 Shoulder and thorax deformity - congenital heart disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1940 Orphanet ID- 1893 Rothmund-Thomson syndrome type 2 Poikiloderma of Rothmund-Thomson type 2 RTS2 OMIM:268400 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q82.8 Orphanet ID- 18930 Gene [OrphaNum:118257 ; Name:RecQ protein-like 4 ; Symbol:RECQL4 ; xref: GENATLAS:RECQL4 ; xref: HGNC:9949 ; xref: OMIM:603780 ; xref: UNIPROTKB/SWISSPROT:O94761 ; xref: ENSEMBL:ENSG00000160957] Poikiloderma of Rothmund-Thomson type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 RTS2 EXACT Poikiloderma of Rothmund-Thomson type 2 EXACT RTS2 Hereditary sclerosing poikiloderma Weary type OMIM:173700 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18931 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039 Hereditary sclerosing poikiloderma with tendon and pulmonary involvement Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18932 Poikiloderma with neutropenia Poikiloderma with neutropenia, Clericuzio type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:225243 ; Name:Chromosome 16 open reading frame 57 ; Symbol:C16ORF57 ; xref: GENATLAS:HVSL1 ; xref: HGNC:25792 ; xref: OMIM:613276 ; xref: UNIPROTKB/SWISSPROT:Q9BQ65 ; xref: ENSEMBL:ENSG00000103005] Orphanet ID- 18933 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 Poikiloderma with neutropenia, Clericuzio type OMIM:604173 EXACT Poikiloderma with neutropenia, Clericuzio type Acrocephalopolydactyly Acrocephalopolydactylous dysplasia Elejalde syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Acrocephalopolydactylous dysplasia Elejalde syndrome OMIM:200995 Orphanet ID- 18934 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054 EXACT Elejalde syndrome EXACT Acrocephalopolydactylous dysplasia Hereditary cerebral cavernous malformation Familial brain cavernous angioma Familial cerebral cavernoma Familial cerebral cavernous malformation Hereditary brain cavernous angioma Hereditary cerebral cavernoma Hereditary brain cavernous angioma Orphanet ID- 18935 Gene [OrphaNum:124142 ; Name:Programmed cell death 10 ; Symbol:PDCD10 ; xref: GENATLAS:PDCD10 ; xref: HGNC:8761 ; xref: OMIM:609118 ; xref: UNIPROTKB/SWISSPROT:Q9BUL8 ; xref: ENSEMBL:ENSG00000114209] Hereditary cerebral cavernoma OMIM:116860 Gene [OrphaNum:122883 ; Name:KRIT1, ankyrin repeat containing ; Symbol:KRIT1 ; xref: GENATLAS:KRIT1 ; xref: HGNC:1573 ; xref: OMIM:604214 ; xref: UNIPROTKB/SWISSPROT:O00522 ; xref: ENSEMBL:ENSG00000001631] OMIM:603284 Gene [OrphaNum:119213 ; Name:Cerebral cavernous malformation 2 ; Symbol:CCM2 ; xref: GENATLAS:CCM2 ; xref: HGNC:21708 ; xref: OMIM:607929 ; xref: UNIPROTKB/SWISSPROT:Q9BSQ5 ; xref: ENSEMBL:ENSG00000136280] OMIM:603285 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Familial cerebral cavernoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 Familial cerebral cavernous malformation Familial brain cavernous angioma EXACT Hereditary cerebral cavernoma EXACT Familial cerebral cavernoma EXACT Familial cerebral cavernous malformation EXACT Familial brain cavernous angioma EXACT Hereditary brain cavernous angioma Pseudoaminopterin syndrome ASSA Aminopterin syndrome-like sine aminopterin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:600325 Orphanet ID- 18945 Aminopterin syndrome-like sine aminopterin ASSA EXACT Aminopterin syndrome-like sine aminopterin EXACT ASSA Fowler syndrome Cerebral proliferative glomeruloid vasculopathy Encephaloclastic proliferative vasculopathy Hydrocephaly/hydranencephaly due to cerebral vasculopathy Proliferative vasculopathy and hydranencephaly/hydrocephaly Hydrocephaly/hydranencephaly due to cerebral vasculopathy OMIM:225790 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18946 Gene [OrphaNum:227058 ; Name:Feline leukemia virus subgroup C cellular receptor family, member 2 ; Symbol:FLVCR2 ; xref: OMIM:610865 ; xref: UNIPROTKB/SWISSPROT:Q9UPI3 ; xref: HGNC:20105 ; xref: GENATLAS:FLVCR2 ; xref: ENSEMBL:ENSG00000224721] Proliferative vasculopathy and hydranencephaly/hydrocephaly Encephaloclastic proliferative vasculopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 Cerebral proliferative glomeruloid vasculopathy EXACT Proliferative vasculopathy and hydranencephaly/hydrocephaly EXACT Hydrocephaly/hydranencephaly due to cerebral vasculopathy EXACT Encephaloclastic proliferative vasculopathy EXACT Cerebral proliferative glomeruloid vasculopathy Combined immunodeficiency with facio-oculo-skeletal anomalies Orphanet ID- 18947 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 OMIM:613328 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Urban-Rifkin-Davis syndrome Urban-Rifkin-Davis syndrome OMIM:613177 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 18949 Gene [OrphaNum:225264 ; Name:Latent transforming growth factor beta binding protein 4 ; Symbol:LTBP4 ; xref: ENSEMBL:ENSG00000090006 ; xref: GENATLAS:LTBP4 ; xref: HGNC:6717 ; xref: OMIM:604710 ; xref: UNIPROTKB/SWISSPROT:Q8N2S1] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 EXACT Urban-Rifkin-Davis syndrome Pitt-Hopkins-like syndrome Gene [OrphaNum:201091 ; Name:Neurexin 1 ; Symbol:NRXN1 ; xref: HGNC:8008 ; xref: OMIM:600565 ; xref: GENATLAS:NRXN1 ; xref: UNIPROTKB/SWISSPROT:Q9ULB1 ; xref: ENSEMBL:ENSG00000179915] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18950 Gene [OrphaNum:165932 ; Name:Contactin associated protein-like 2 ; Symbol:CNTNAP2 ; xref: GENATLAS:CNTNAP2 ; xref: HGNC:13830 ; xref: OMIM:604569 ; xref: UNIPROTKB/SWISSPROT:Q9UHC6 ; xref: ENSEMBL:ENSG00000174469] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221150 OMIM:610042 OMIM:614325 Dysplasia epiphysealis hemimelica Trevor disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Trevor disease OMIM:127800 Orphanet ID- 1896 EXACT Trevor disease Hereditary poikiloderma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222628 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 18965 Lowry-Wood syndrome Epiphyseal dysplasia - microcephaly - nystagmus prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 Orphanet ID- 1897 OMIM:226960 Epiphyseal dysplasia - microcephaly - nystagmus ICD10:Q78.8 EXACT Epiphyseal dysplasia - microcephaly - nystagmus Mitochondrial oxidative phosphorylation disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713 Orphanet ID- 18973 Hemochromatosis type 3 TFR2-related hemochromatosis Orphanet ID- 18976 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:604250 ICD10:E83.1 TFR2-related hemochromatosis Gene [OrphaNum:120043 ; Name:Transferrin receptor 2 ; Symbol:TFR2 ; xref: GENATLAS:TFR2 ; xref: HGNC:11762 ; xref: OMIM:604720 ; xref: UNIPROTKB/SWISSPROT:Q9UP52 ; xref: ENSEMBL:ENSG00000106327] EXACT TFR2-related hemochromatosis Sporadic infantile bilateral striatal necrosis Sporadic IBSN Sporadic infantile striatonigral necrosis Sporadic IBSN prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Sporadic infantile striatonigral necrosis Orphanet ID- 18977 ICD10:G23.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 EXACT Sporadic IBSN EXACT Sporadic infantile striatonigral necrosis Familial infantile bilateral striatal necrosis Familial IBSN Familial infantile striatonigral necrosis Familial IBSN Gene [OrphaNum:138467 ; Name:Nucleoporin 62 KDa ; Symbol:NUP62 ; xref: GENATLAS:NUP62 ; xref: HGNC:8066 ; xref: OMIM:605815 ; xref: UNIPROTKB/SWISSPROT:P37198 ; xref: ENSEMBL:ENSG00000213024 ; xref: REACTOME:P37198] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Orphanet ID- 18978 OMIM:271930 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 OMIM:500003 ICD10:G23.2 Familial infantile striatonigral necrosis Gene [OrphaNum:123508 ; Name:Mitochondrially encoded ATP synthase 6 ; Symbol:MT-ATP6 ; xref: GENATLAS:MT-ATP6 ; xref: HGNC:7414 ; xref: OMIM:516060 ; xref: UNIPROTKB/SWISSPROT:P00846 ; xref: ENSEMBL:ENSG00000198899 ; xref: REACTOME:P00846] EXACT Familial infantile striatonigral necrosis EXACT Familial IBSN Pacman dysplasia Epiphyseal stippling syndrome - osteoclastic hyperplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952 Orphanet ID- 1899 OMIM:167220 Epiphyseal stippling syndrome - osteoclastic hyperplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; EXACT Epiphyseal stippling syndrome - osteoclastic hyperplasia Muscle phosphofructokinase deficiency GSD type 7 Glycogen storage disease type 7 Tarui disease Type 7 glycogenosis Orphanet ID- 19 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 Gene [OrphaNum:124223 ; Name:Phosphofructokinase, muscle ; Symbol:PFKM ; xref: GENATLAS:PFKM ; xref: HGNC:8877 ; xref: OMIM:610681 ; xref: UNIPROTKB/SWISSPROT:P08237 ; xref: ENSEMBL:ENSG00000152556 ; xref: REACTOME:P08237] Type 7 glycogenosis ICD10:E74.0 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:232800 Tarui disease Glycogen storage disease type 7 GSD type 7 EXACT Tarui disease EXACT GSD type 7 EXACT Glycogen storage disease type 7 EXACT Type 7 glycogenosis Norrie disease Atrophia bulborum hereditaria Episkopi blindness Norrie-Warburg disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; Atrophia bulborum hereditaria Norrie-Warburg disease ICD10:H35.5 Episkopi blindness OMIM:310600 Gene [OrphaNum:123713 ; Name:Norrie disease (pseudoglioma) ; Symbol:NDP ; xref: ENSEMBL:ENSG00000124479 ; xref: GENATLAS:NDP ; xref: HGNC:7678 ; xref: OMIM:310600 ; xref: UNIPROTKB/SWISSPROT:Q00604] Orphanet ID- 190 EXACT Episkopi blindness EXACT Norrie-Warburg disease EXACT Atrophia bulborum hereditaria Congenital lethal erythroderma ICD10:Q80.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954 OMIM:227090 Orphanet ID- 1901 Mitochondrial disease with peripheral neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225703 Orphanet ID- 19016 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Erythrokeratodermia - ataxia Orphanet ID- 1902 OMIM:133190 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Permanent congenital hypothyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19029 Erythromelalgia Gene [OrphaNum:118525 ; Name:Sodium channel, voltage-gated, type IX, alpha subunit ; Symbol:SCN9A ; xref: GENATLAS:SCN9A ; xref: HGNC:10597 ; xref: OMIM:603415 ; xref: UNIPROTKB/SWISSPROT:Q15858 ; xref: ENSEMBL:ENSG00000169432 ; xref: IUPHAR:584 ; xref: REACTOME:Q15858] Orphanet ID- 1903 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1956 ICD10:I73.8 Primary congenital hypothyroidism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295 Orphanet ID- 19030 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Central congenital hypothyroidism Orphanet ID- 19031 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298 Hypothyroidism due to deficient transcription factors involved in pituitary development or function Gene [OrphaNum:117948 ; Name:POU class 1 homeobox 1 ; Symbol:POU1F1 ; xref: GENATLAS:POU1F1 ; xref: HGNC:9210 ; xref: OMIM:173110 ; xref: UNIPROTKB/SWISSPROT:P28069 ; xref: ENSEMBL:ENSG00000064835] Orphanet ID- 19033 Gene [OrphaNum:122398 ; Name:HESX homeobox 1 ; Symbol:HESX1 ; xref: GENATLAS:HESX1 ; xref: HGNC:4877 ; xref: OMIM:601802 ; xref: UNIPROTKB/SWISSPROT:Q9UBX0 ; xref: ENSEMBL:ENSG00000163666] prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307 Gene [OrphaNum:118051 ; Name:PROP paired-like homeobox 1 ; Symbol:PROP1 ; xref: GENATLAS:PROP1 ; xref: HGNC:9455 ; xref: OMIM:601538 ; xref: UNIPROTKB/SWISSPROT:O75360 ; xref: ENSEMBL:ENSG00000175325] Gene [OrphaNum:123053 ; Name:LIM homeobox 3 ; Symbol:LHX3 ; xref: GENATLAS:LHX3 ; xref: HGNC:6595 ; xref: OMIM:600577 ; xref: UNIPROTKB/SWISSPROT:Q9UBR4 ; xref: ENSEMBL:ENSG00000107187] Gene [OrphaNum:138383 ; Name:LIM homeobox 4 ; Symbol:LHX4 ; xref: HGNC:21734 ; xref: OMIM:602146 ; xref: UNIPROTKB/SWISSPROT:Q969G2 ; xref: GENATLAS:LHX4 ; xref: ENSEMBL:ENSG00000121454] Peripheral hypothyroidism Orphanet ID- 19034 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226310 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital hypothyroidism due to maternal intake of antithyroid drugs Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226313 Orphanet ID- 19035 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic transient congenital hypothyroidism Orphanet ID- 19036 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121233 ; Name:Dual oxidase 2 ; Symbol:DUOX2 ; xref: GENATLAS:DUOX2 ; xref: HGNC:13273 ; xref: OMIM:606759 ; xref: UNIPROTKB/SWISSPROT:Q9NRD8 ; xref: ENSEMBL:ENSG00000140279] Multiple system atrophy, cerebellar type MSA, cerebellar type MSA-c Sporadic OPCA type 1 Sporadic olivopontocerebellar atrophy type 1 Sporadic olivopontocerebellar atrophy type 1 Orphanet ID- 19053 MSA, cerebellar type OMIM:258300 MSA-c ICD10:G90.3 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227510 Sporadic OPCA type 1 EXACT MSA, cerebellar type EXACT Sporadic OPCA type 1 EXACT Sporadic olivopontocerebellar atrophy type 1 EXACT MSA-c Hereditary breast cancer Familial breast cancer Familial breast carcinoma Hereditary breast carcinoma Familial breast cancer prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial breast carcinoma Hereditary breast carcinoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535 Orphanet ID- 19054 Gene [OrphaNum:299649 ; Name:X-ray repair complementing defective repair in Chinese hamster cells 2 ; Symbol:XRCC2 ; xref: HGNC:12829 ; xref: OMIM:600375 ; xref: GENATLAS:XRCC2 ; xref: UNIPROTKB/SWISSPROT:O43543] EXACT Familial breast cancer EXACT Hereditary breast carcinoma EXACT Familial breast carcinoma Familial flecked retinopathy Orphanet ID- 19055 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227786 Fundus albipunctatus OMIM:136880 Gene [OrphaNum:118253 ; Name:Retinol dehydrogenase 5 (11-cis/9-cis) ; Symbol:RDH5 ; xref: GENATLAS:RDH5 ; xref: HGNC:9940 ; xref: OMIM:601617 ; xref: UNIPROTKB/SWISSPROT:Q92781 ; xref: ENSEMBL:ENSG00000135437] Orphanet ID- 19056 Gene [OrphaNum:118326 ; Name:Retinaldehyde binding protein 1 ; Symbol:RLBP1 ; xref: GENATLAS:RLBP1 ; xref: HGNC:10024 ; xref: OMIM:180090 ; xref: UNIPROTKB/SWISSPROT:P12271 ; xref: ENSEMBL:ENSG00000140522] Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Autosomal recessive optic atrophy, OPA7 type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 ICD10:H47.2 Orphanet ID- 19058 Gene [OrphaNum:232171 ; Name:Transmembrane protein 126A ; Symbol:TMEM126A ; xref: ENSEMBL:ENSG00000171202 ; xref: HGNC:25382 ; xref: GENATLAS:TMEM126A ; xref: UNIPROTKB/SWISSPROT:Q9H061 ; xref: OMIM:612988] OMIM:612989 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Autoimmune polyendocrinopathy type 3 APS type 3 APS3 Autoimmune polyendocrine syndrome type 3 Autoimmune polyglandular syndrome type 3 APS type 3 APS3 Autoimmune polyendocrine syndrome type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227982 Autoimmune polyglandular syndrome type 3 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Orphanet ID- 19059 EXACT Autoimmune polyglandular syndrome type 3 EXACT APS type 3 EXACT Autoimmune polyendocrine syndrome type 3 EXACT APS3 Idiopathic CD4 lymphocytopenia Gene [OrphaNum:227401 ; Name:Unc-119 homolog (C. elegans) ; Symbol:UNC119 ; xref: HGNC:12565 ; xref: OMIM:604011 ; xref: UNIPROTKB/SWISSPROT:Q13432 ; xref: GENATLAS:UNC119 ; xref: ENSEMBL:ENSG00000109103] Orphanet ID- 19061 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228000 Severe combined immunodeficiency due to CORO1A deficiency SCID due to CORO1A deficiency SCID due to coronin-1A deficiency Severe combined immunodeficiency due to coronin-1A deficiency SCID due to coronin-1A deficiency Severe combined immunodeficiency due to coronin-1A deficiency Orphanet ID- 19062 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228003 Gene [OrphaNum:179462 ; Name:Coronin, actin binding protein, 1A ; Symbol:CORO1A ; xref: OMIM:605000 ; xref: HGNC:2252 ; xref: UNIPROTKB/SWISSPROT:P31146 ; xref: GENATLAS:CORO1A ; xref: ENSEMBL:ENSG00000102879] SCID due to CORO1A deficiency EXACT SCID due to coronin-1A deficiency EXACT SCID due to CORO1A deficiency EXACT Severe combined immunodeficiency due to coronin-1A deficiency Progressive sensorineural hearing loss - hypertrophic cardiomyopathy Progressive neurosensory deafness - hypertrophic cardiomyopathy Progressive neurosensory hearing loss - hypertrophic cardiomyopathy Progressive sensorineural deafness - hypertrophic cardiomyopathy Progressive neurosensory hearing loss - hypertrophic cardiomyopathy Progressive sensorineural deafness - hypertrophic cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 Orphanet ID- 19064 OMIM:606346 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:123648 ; Name:Myosin VI ; Symbol:MYO6 ; xref: GENATLAS:MYO6 ; xref: HGNC:7605 ; xref: OMIM:600970 ; xref: UNIPROTKB/SWISSPROT:Q9UM54 ; xref: REACTOME:Q9UM54 ; xref: ENSEMBL:ENSG00000196586] Progressive neurosensory deafness - hypertrophic cardiomyopathy EXACT Progressive neurosensory hearing loss - hypertrophic cardiomyopathy EXACT Progressive sensorineural deafness - hypertrophic cardiomyopathy EXACT Progressive neurosensory deafness - hypertrophic cardiomyopathy Exostoses - anetodermia - brachydactyly type E OMIM:133690 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1907 Idiopathic ventricular fibrillation, not Brugada type Familial paroxysmal ventricular fibrillation, not Brugada type prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 Gene [OrphaNum:232182 ; Name:Dipeptidyl-peptidase 6 ; Symbol:DPP6 ; xref: OMIM:126141 ; xref: UNIPROTKB/SWISSPROT:P42658 ; xref: ENSEMBL:ENSG00000130226 ; xref: GENATLAS:DPP6 ; xref: HGNC:3010] Orphanet ID- 19072 Familial paroxysmal ventricular fibrillation, not Brugada type OMIM:603829 OMIM:612956 Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] EXACT Familial paroxysmal ventricular fibrillation, not Brugada type Autosomal dominant striatal neurodegeneration ADSD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 ADSD Gene [OrphaNum:226016 ; Name:Phosphodiesterase 8B ; Symbol:PDE8B ; xref: HGNC:8794 ; xref: GENATLAS:PDE8B ; xref: OMIM:603390 ; xref: UNIPROTKB/SWISSPROT:O95263 ; xref: ENSEMBL:ENSG00000113231 ; xref: REACTOME:O95263] OMIM:609161 Orphanet ID- 19076 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT ADSD Autosomal dominant Charcot-Marie-Tooth disease type 2N CMT2N prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 19077 CMT2N ICD10:G60.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 OMIM:613287 Gene [OrphaNum:232194 ; Name:Alanyl-tRNA synthetase ; Symbol:AARS ; xref: ENSEMBL:ENSG00000090861 ; xref: REACTOME:P49588 ; xref: GENATLAS:AARS ; xref: HGNC:20 ; xref: UNIPROTKB/SWISSPROT:P49588 ; xref: OMIM:601065] EXACT CMT2N Autosomal dominant Charcot-Marie-Tooth disease type 2M CMT2M Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:606482 Orphanet ID- 19078 ICD10:G60.0 Gene [OrphaNum:121147 ; Name:Dynamin 2 ; Symbol:DNM2 ; xref: GENATLAS:DNM2 ; xref: HGNC:2974 ; xref: OMIM:602378 ; xref: UNIPROTKB/SWISSPROT:P50570 ; xref: REACTOME:P50570 ; xref: ENSEMBL:ENSG00000079805] CMT2M EXACT CMT2M Heart-hand syndrome Orphanet ID- 19079 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Patent ductus arteriosus - bicuspid aortic valve - hand anomalies Patent arterial duct - bicuspid aortic valve - hand anomalies Patent arterial duct - bicuspid aortic valve - hand anomalies OMIM:604381 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 19081 ICD10:Q87.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 EXACT Patent arterial duct - bicuspid aortic valve - hand anomalies Genetic dermis elastic tissue disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228215 Orphanet ID- 19082 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial anetoderma Hereditary anetoderma Hereditary macular atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277 Hereditary macular atrophy Hereditary anetoderma Orphanet ID- 19094 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Hereditary macular atrophy EXACT Hereditary anetoderma Carnitine palmitoyl transferase II deficiency, myopathic form CPT2, adult-onset form CPT2, myopathic form CPTII, adult-onset form CPTII, myopathic form Carnitine palmitoyl transferase II deficiency, adult-onset form Carnitine palmitoyl transferase deficiency type 2, adult-onset form Carnitine palmitoyl transferase deficiency type 2, myopathic form prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 Carnitine palmitoyl transferase deficiency type 2, adult-onset form Gene [OrphaNum:120795 ; Name:Carnitine palmitoyltransferase II ; Symbol:CPT2 ; xref: GENATLAS:CPT2 ; xref: HGNC:2330 ; xref: OMIM:600650 ; xref: UNIPROTKB/SWISSPROT:P23786 ; xref: REACTOME:P23786 ; xref: ENSEMBL:ENSG00000157184] OMIM:255110 CPTII, myopathic form Orphanet ID- 19099 Carnitine palmitoyl transferase II deficiency, adult-onset form ICD10:E71.3 CPT2, adult-onset form CPTII, adult-onset form CPT2, myopathic form Carnitine palmitoyl transferase deficiency type 2, myopathic form EXACT CPTII, adult-onset form EXACT Carnitine palmitoyl transferase II deficiency, adult-onset form EXACT Carnitine palmitoyl transferase deficiency type 2, adult-onset form EXACT CPT2, adult-onset form EXACT Carnitine palmitoyl transferase deficiency type 2, myopathic form EXACT CPTII, myopathic form EXACT CPT2, myopathic form Carnitine palmitoyl transferase II deficiency, severe infantile form CPT2, hepatocardiomuscular form CPT2, severe infantile form CPTII, hepatocardiomuscular form CPTII, severe infantile form Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, severe infantile form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form CPT2, severe infantile form CPTII, hepatocardiomuscular form prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; CPTII, severe infantile form OMIM:600649 Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form ICD10:E71.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 Carnitine palmitoyl transferase deficiency type 2, severe infantile form Orphanet ID- 19100 CPT2, hepatocardiomuscular form Gene [OrphaNum:120795 ; Name:Carnitine palmitoyltransferase II ; Symbol:CPT2 ; xref: GENATLAS:CPT2 ; xref: HGNC:2330 ; xref: OMIM:600650 ; xref: UNIPROTKB/SWISSPROT:P23786 ; xref: REACTOME:P23786 ; xref: ENSEMBL:ENSG00000157184] EXACT Carnitine palmitoyl transferase deficiency type 2, severe infantile form EXACT Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form EXACT CPTII, hepatocardiomuscular form EXACT Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form EXACT CPT2, severe infantile form EXACT CPT2, hepatocardiomuscular form EXACT CPTII, severe infantile form Carnitine palmitoyl transferase II deficiency, neonatal form CPT2, lethal systemic form CPT2, neonatal form CPTII, lethal systemic form CPTII, neonatal form Carnitine palmitoyl transferase II deficiency, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, neonatal form CPT2, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, lethal systemic form Carnitine palmitoyl transferase II deficiency, lethal systemic form CPT2, neonatal form Carnitine palmitoyl transferase deficiency type 2, neonatal form Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; CPTII, lethal systemic form CPTII, neonatal form Gene [OrphaNum:120795 ; Name:Carnitine palmitoyltransferase II ; Symbol:CPT2 ; xref: GENATLAS:CPT2 ; xref: HGNC:2330 ; xref: OMIM:600650 ; xref: UNIPROTKB/SWISSPROT:P23786 ; xref: REACTOME:P23786 ; xref: ENSEMBL:ENSG00000157184] ICD10:E71.3 Orphanet ID- 19101 OMIM:608836 EXACT CPTII, lethal systemic form EXACT CPT2, lethal systemic form EXACT Carnitine palmitoyl transferase deficiency type 2, lethal systemic form EXACT CPT2, neonatal form EXACT CPTII, neonatal form EXACT Carnitine palmitoyl transferase deficiency type 2, neonatal form EXACT Carnitine palmitoyl transferase II deficiency, lethal systemic form CLN1 disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:117978 ; Name:Palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) ; Symbol:PPT1 ; xref: GENATLAS:PPT1 ; xref: HGNC:9325 ; xref: OMIM:600722 ; xref: UNIPROTKB/SWISSPROT:P50897 ; xref: ENSEMBL:ENSG00000131238] ICD10:E75.4 OMIM:256730 Orphanet ID- 19105 CLN10 disease Cathepsin D deficiency Cathepsin D deficiency ICD10:E75.4 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 OMIM:610127 Orphanet ID- 19106 Gene [OrphaNum:159489 ; Name:Cathepsin D ; Symbol:CTSD ; xref: GENATLAS:CTSD ; xref: HGNC:2529 ; xref: OMIM:116840 ; xref: UNIPROTKB/SWISSPROT:P07339 ; xref: ENSEMBL:ENSG00000117984] EXACT Cathepsin D deficiency CLN4A disease Gene [OrphaNum:120643 ; Name:Ceroid-lipofuscinosis, neuronal 6, late infantile, variant ; Symbol:CLN6 ; xref: GENATLAS:CLN6 ; xref: HGNC:2077 ; xref: OMIM:606725 ; xref: UNIPROTKB/SWISSPROT:Q9NWW5 ; xref: ENSEMBL:ENSG00000128973] OMIM:204300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228340 Orphanet ID- 19107 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.4 CLN4B disease prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:279781 ; Name:DnaJ (Hsp40) homolog, subfamily C, member 5 ; Symbol:DNAJC5 ; xref: ENSEMBL:ENSG00000101152 ; xref: REACTOME:Q9H3Z4 ; xref: HGNC:16235 ; xref: OMIM:611203 ; xref: UNIPROTKB/SWISSPROT:Q9H3Z4 ; xref: GENATLAS:DNAJC5] ICD10:E75.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 OMIM:162350 Orphanet ID- 19108 CLN3 disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 Gene [OrphaNum:120638 ; Name:Ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) ; Symbol:CLN3 ; xref: GENATLAS:CLN3 ; xref: HGNC:2074 ; xref: OMIM:607042 ; xref: UNIPROTKB/SWISSPROT:Q13286 ; xref: ENSEMBL:ENSG00000188603] Orphanet ID- 19109 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.4 OMIM:204200 CLN2 disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 Orphanet ID- 19110 Gene [OrphaNum:120236 ; Name:Tripeptidyl peptidase I ; Symbol:TPP1 ; xref: GENATLAS:TPP1 ; xref: HGNC:2073 ; xref: OMIM:607998 ; xref: UNIPROTKB/SWISSPROT:O14773 ; xref: REACTOME:O14773 ; xref: ENSEMBL:ENSG00000166340] prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:204500 ICD10:E75.4 CLN8 disease Orphanet ID- 19111 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.4 Gene [OrphaNum:120648 ; Name:Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) ; Symbol:CLN8 ; xref: ENSEMBL:ENSG00000182372 ; xref: GENATLAS:CLN8 ; xref: HGNC:2079 ; xref: OMIM:607837 ; xref: UNIPROTKB/SWISSPROT:Q9UBY8] OMIM:600143 CLN9 disease prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228357 ICD10:E75.4 OMIM:609055 Orphanet ID- 19112 CLN5 disease OMIM:256731 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 Orphanet ID- 19113 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.4 Gene [OrphaNum:120641 ; Name:Ceroid-lipofuscinosis, neuronal 5 ; Symbol:CLN5 ; xref: GENATLAS:CLN5 ; xref: HGNC:2076 ; xref: OMIM:608102 ; xref: UNIPROTKB/SWISSPROT:O75503 ; xref: ENSEMBL:ENSG00000102805] CLN6 disease OMIM:601780 Gene [OrphaNum:120643 ; Name:Ceroid-lipofuscinosis, neuronal 6, late infantile, variant ; Symbol:CLN6 ; xref: GENATLAS:CLN6 ; xref: HGNC:2077 ; xref: OMIM:606725 ; xref: UNIPROTKB/SWISSPROT:Q9NWW5 ; xref: ENSEMBL:ENSG00000128973] Orphanet ID- 19114 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 ICD10:E75.4 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; CLN7 disease OMIM:610951 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 Gene [OrphaNum:159521 ; Name:Major facilitator superfamily domain containing 8 ; Symbol:MFSD8 ; xref: GENATLAS:MFSD8 ; xref: HGNC:28486 ; xref: OMIM:611124 ; xref: UNIPROTKB/SWISSPROT:Q8NHS3 ; xref: ENSEMBL:ENSG00000164073] Orphanet ID- 19115 ICD10:E75.4 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Severe early-onset axonal neuropathy due to NEFL deficiency Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency ICD10:G60.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19117 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374 Gene [OrphaNum:123754 ; Name:Neurofilament, light polypeptide 68kDa ; Symbol:NEFL ; xref: GENATLAS:NEFL ; xref: HGNC:7739 ; xref: OMIM:162280 ; xref: UNIPROTKB/SWISSPROT:P07196 ; xref: ENSEMBL:ENSG00000104725 ; xref: REACTOME:P07196] EXACT Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency 5q14.3 microdeletion syndrome Del(5)(q14.3) Monosomy 5q14.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:232232 ; Name:Myocyte enhancer factor 2C ; Symbol:MEF2C ; xref: ENSEMBL:ENSG00000081189 ; xref: REACTOME:Q06413 ; xref: GENATLAS:MEF2C ; xref: HGNC:6996 ; xref: UNIPROTKB/SWISSPROT:Q06413 ; xref: OMIM:600662] Monosomy 5q14.3 Del(5)(q14.3) OMIM:613443 Orphanet ID- 19119 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 ICD10:Q93.5 EXACT Del(5)(q14.3) EXACT Monosomy 5q14.3 Spondylo-megaepiphyseal-metaphyseal dysplasia OMIM:613330 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 Gene [OrphaNum:232223 ; Name:NK3 homeobox 2 ; Symbol:NKX3-2 ; xref: ENSEMBL:ENSG00000109705 ; xref: OMIM:602183 ; xref: GENATLAS:NKX3-2 ; xref: HGNC:951 ; xref: UNIPROTKB/SWISSPROT:P78367] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19120 Frontonasal dysplasia with alopecia and genital anomaly ALX4-related FNDAG Craniofrontonasal dysplasia with alopecia and hypogonadism Frontonasal dysplasia with alopecia and genital abnomality prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Craniofrontonasal dysplasia with alopecia and hypogonadism Orphanet ID- 19121 Frontonasal dysplasia with alopecia and genital abnomality Gene [OrphaNum:119647 ; Name:Aristaless-like homeobox 4 ; Symbol:ALX4 ; xref: GENATLAS:ALX4 ; xref: HGNC:450 ; xref: OMIM:605420 ; xref: UNIPROTKB/SWISSPROT:Q9H161 ; xref: ENSEMBL:ENSG00000052850] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 OMIM:613451 ALX4-related FNDAG EXACT Craniofrontonasal dysplasia with alopecia and hypogonadism EXACT Frontonasal dysplasia with alopecia and genital abnomality EXACT ALX4-related FNDAG Ptosis - upper ocular movement limitation - absence of lacrimal punctum prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19123 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 8q12 microduplication syndrome Dup(8)(q12) Trisomy 8q12 Orphanet ID- 19124 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399 ICD10:Q92.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Dup(8)(q12) Trisomy 8q12 EXACT Dup(8)(q12) EXACT Trisomy 8q12 2q23.1 microdeletion syndrome Del(2)(q23.1) Monosomy 2q23.1 Pseudo-Angelman syndrome ICD10:Q93.5 Pseudo-Angelman syndrome Monosomy 2q23.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19125 Gene [OrphaNum:244206 ; Name:Methyl-CpG binding domain protein 5 ; Symbol:MBD5 ; xref: UNIPROTKB/SWISSPROT:Q9P267 ; xref: ENSEMBL:ENSG00000204406 ; xref: HGNC:20444 ; xref: GENATLAS:MBD5 ; xref: OMIM:611472] Del(2)(q23.1) EXACT Monosomy 2q23.1 EXACT Pseudo-Angelman syndrome EXACT Del(2)(q23.1) TMCO1 defect syndrome Orphanet ID- 19126 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228407 OMIM:614132 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:232228 ; Name:Transmembrane and coiled-coil domains 1 ; Symbol:TMCO1 ; xref: ENSEMBL:ENSG00000143183 ; xref: HGNC:18188 ; xref: GENATLAS:TMCO1 ; xref: UNIPROTKB/SWISSPROT:Q9UM00 ; xref: OMIM:614123] Polyvalvular heart disease syndrome PHD syndrome PHD syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:157700 ICD10:Q24.8 Orphanet ID- 19127 EXACT PHD syndrome 5q35 microduplication syndrome Dup(5)(q35) Trisomy 5q35 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19128 Gene [OrphaNum:123937 ; Name:Nuclear receptor binding SET domain protein 1 ; Symbol:NSD1 ; xref: GENATLAS:NSD1 ; xref: HGNC:14234 ; xref: OMIM:606681 ; xref: UNIPROTKB/SWISSPROT:Q96L73 ; xref: ENSEMBL:ENSG00000165671] ICD10:Q92.3 Trisomy 5q35 Dup(5)(q35) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415 EXACT Trisomy 5q35 EXACT Dup(5)(q35) Microcephaly - seizures - developmental delay MCSZ prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:613402 Gene [OrphaNum:229787 ; Name:Polynucleotide kinase 3'-phosphatase ; Symbol:PNKP ; xref: OMIM:605610 ; xref: UNIPROTKB/SWISSPROT:Q96T60 ; xref: ENSEMBL:ENSG00000039650 ; xref: HGNC:9154 ; xref: GENATLAS:PNKP] Orphanet ID- 19130 MCSZ Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228418 EXACT MCSZ Monocytopenia with susceptibility to infections Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections Dentritic cell, monocyte, B and NK lymphoid deficiency MonoMAC Monocyte - B - natural killer - dendritic cell deficiency Monocytopenia and mycobacterial infection syndrome Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228423 Orphanet ID- 19131 Dentritic cell, monocyte, B and NK lymphoid deficiency Monocyte - B - natural killer - dendritic cell deficiency Monocytopenia and mycobacterial infection syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:614172 MonoMAC Gene [OrphaNum:274222 ; Name:GATA binding protein 2 ; Symbol:GATA2 ; xref: ENSEMBL:ENSG00000179348 ; xref: GENATLAS:GATA2 ; xref: HGNC:4171 ; xref: OMIM:137295 ; xref: UNIPROTKB/SWISSPROT:P23769 ; xref: REACTOME:P23769] EXACT MonoMAC EXACT Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections EXACT Monocyte - B - natural killer - dendritic cell deficiency EXACT Dentritic cell, monocyte, B and NK lymphoid deficiency EXACT Monocytopenia and mycobacterial infection syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Orphanet ID- 19132 Gene [OrphaNum:232245 ; Name:Itchy E3 ubiquitin protein ligase homolog (mouse) ; Symbol:ITCH ; xref: ENSEMBL:ENSG00000078747 ; xref: REACTOME:Q96J02 ; xref: GENATLAS:ITCH ; xref: HGNC:13890 ; xref: OMIM:606409 ; xref: UNIPROTKB/SWISSPROT:Q96J02] OMIM:613385 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 Generalized congenital lipodystrophy with myopathy GCL4 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; GCL4 OMIM:613327 ICD10:G71.0 ICD10:E88.1 Gene [OrphaNum:227086 ; Name:Polymerase I and transcript release factor ; Symbol:PTRF ; xref: REACTOME:Q6NZI2 ; xref: HGNC:9688 ; xref: GENATLAS:PTRF ; xref: OMIM:603198 ; xref: UNIPROTKB/SWISSPROT:Q6NZI2 ; xref: ENSEMBL:ENSG00000177469] Orphanet ID- 19133 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 EXACT GCL4 Isolated agammaglobulinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229717 Orphanet ID- 19134 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic agammaglobulinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229720 Orphanet ID- 19135 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation Orphanet ID- 1914 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:220219 Ehlers-Danlos syndrome, classic-like type EDS, classic-like type Orphanet ID- 19142 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:606408 Gene [OrphaNum:120194 ; Name:Tenascin XB ; Symbol:TNXB ; xref: GENATLAS:TNXB ; xref: HGNC:11976 ; xref: OMIM:600985 ; xref: UNIPROTKB/SWISSPROT:P22105 ; xref: ENSEMBL:ENSG00000168477] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 EDS, classic-like type ICD10:Q79.6 EXACT EDS, classic-like type Ehlers-Danlos syndrome, vascular-like type EDS, vascular-like type ICD10:Q79.6 Orphanet ID- 19143 EDS, vascular-like type Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230845 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT EDS, vascular-like type Ehlers-Danlos syndrome, cardiac valvular type EDS, cardiac valvular type Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123] OMIM:225320 ICD10:Q79.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EDS, cardiac valvular type Orphanet ID- 19144 EXACT EDS, cardiac valvular type Ehlers-Danlos/osteogenesis imperfecta syndrome EDS/OI syndrome Orphanet ID- 19145 Gene [OrphaNum:120707 ; Name:Collagen, type I, alpha 2 ; Symbol:COL1A2 ; xref: GENATLAS:COL1A2 ; xref: HGNC:2198 ; xref: OMIM:120160 ; xref: UNIPROTKB/SWISSPROT:P08123 ; xref: ENSEMBL:ENSG00000164692 ; xref: REACTOME:P08123] Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 EDS/OI syndrome EXACT EDS/OI syndrome Congenital trigeminal anesthesia OMIM:122450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19146 Erythema palmaris hereditarium Lane disease Red palms disease Red palms disease OMIM:133000 Orphanet ID- 19147 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031 Lane disease prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Lane disease EXACT Red palms disease Familial generalized lentiginosis Familial lentigines profusa Familial multiple lentigines syndrome without systemic involvement Orphanet ID- 19148 Familial multiple lentigines syndrome without systemic involvement OMIM:151001 OMIM:150900 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Unknown; Familial lentigines profusa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 EXACT Familial multiple lentigines syndrome without systemic involvement EXACT Familial lentigines profusa Severe combined immunodeficiency with sensitivity to ionizing radiation Orphanet ID- 19149 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231053 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial rhabdoid tumor prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 19153 Gene [OrphaNum:119735 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ; Symbol:SMARCB1 ; xref: GENATLAS:SMARCB1 ; xref: HGNC:11103 ; xref: OMIM:601607 ; xref: UNIPROTKB/SWISSPROT:Q12824 ; xref: ENSEMBL:ENSG00000099956] OMIM:613325 Gene [OrphaNum:225351 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ; Symbol:SMARCA4 ; xref: ENSEMBL:ENSG00000127616 ; xref: HGNC:11100 ; xref: OMIM:603254 ; xref: GENATLAS:SMARCA4 ; xref: UNIPROTKB/SWISSPROT:P51532] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108 OMIM:609322 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 Gene [OrphaNum:159729 ; Name:Insulin-like growth factor 2 (somatomedin A) ; Symbol:IGF2 ; xref: HGNC:5466 ; xref: OMIM:147470 ; xref: UNIPROTKB/SWISSPROT:P01344 ; xref: GENATLAS:IGF2 ; xref: ENSEMBL:ENSG00000167244 ; xref: REACTOME:P01344] Gene [OrphaNum:138711 ; Name:KCNQ1 overlapping transcript 1 (non-protein coding) ; Symbol:KCNQ1OT1 ; xref: GENATLAS:KCNQ1OT1 ; xref: HGNC:6295 ; xref: OMIM:604115 ; xref: ENSEMBL:ENSG00000258492] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:123340 ; Name:H19, imprinted maternally expressed untranslated mRNA ; Symbol:H19 ; xref: GENATLAS:H19 ; xref: HGNC:4713 ; xref: OMIM:103280 ; xref: ENSEMBL:ENSG00000130600] OMIM:130650 Orphanet ID- 19155 ICD10:Q87.3 Beckwith-Wiedemann syndrome due to CDKN1C mutation ICD10:Q87.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 OMIM:130650 Orphanet ID- 19156 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:119300 ; Name:Cyclin-dependent kinase inhibitor 1C (p57, Kip2) ; Symbol:CDKN1C ; xref: GENATLAS:CDKN1C ; xref: HGNC:1786 ; xref: OMIM:600856 ; xref: UNIPROTKB/SWISSPROT:P49918 ; xref: ENSEMBL:ENSG00000129757] Beckwith-Wiedemann syndrome due to 11p15 microdeletion Gene [OrphaNum:138711 ; Name:KCNQ1 overlapping transcript 1 (non-protein coding) ; Symbol:KCNQ1OT1 ; xref: GENATLAS:KCNQ1OT1 ; xref: HGNC:6295 ; xref: OMIM:604115 ; xref: ENSEMBL:ENSG00000258492] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 ICD10:Q87.3 Orphanet ID- 19158 OMIM:130650 Gene [OrphaNum:123340 ; Name:H19, imprinted maternally expressed untranslated mRNA ; Symbol:H19 ; xref: GENATLAS:H19 ; xref: HGNC:4713 ; xref: OMIM:103280 ; xref: ENSEMBL:ENSG00000130600] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 ICD10:Q87.3 OMIM:130650 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 19159 Lethal faciocardiomelic dysplasia Orphanet ID- 1916 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 OMIM:227270 ICD10:Q87.8 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell syndrome due to 7p11.2-p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to trisomy 7p11.2-p13 Silver-Russell syndrome due to trisomy 7p11.2p13 ICD10:Q87.1 Silver-Russell syndrome due to 7p11.2-p13 microduplication OMIM:180860 Orphanet ID- 19160 Silver-Russell syndrome due to dup(7)(p11.2p13) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 Silver-Russell syndrome due to trisomy 7p11.2-p13 Silver-Russell syndrome due to trisomy 7p11.2p13 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Silver-Russell syndrome due to dup(7)(p11.2p13) EXACT Silver-Russell syndrome due to trisomy 7p11.2p13 EXACT Silver-Russell syndrome due to trisomy 7p11.2-p13 EXACT Silver-Russell syndrome due to 7p11.2-p13 microduplication Silver-Russell syndrome due to imprinting defect of 11p15 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:159729 ; Name:Insulin-like growth factor 2 (somatomedin A) ; Symbol:IGF2 ; xref: HGNC:5466 ; xref: OMIM:147470 ; xref: UNIPROTKB/SWISSPROT:P01344 ; xref: GENATLAS:IGF2 ; xref: ENSEMBL:ENSG00000167244 ; xref: REACTOME:P01344] OMIM:180860 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 ICD10:Q87.1 Orphanet ID- 19161 Gene [OrphaNum:123340 ; Name:H19, imprinted maternally expressed untranslated mRNA ; Symbol:H19 ; xref: GENATLAS:H19 ; xref: HGNC:4713 ; xref: OMIM:103280 ; xref: ENSEMBL:ENSG00000130600] Silver-Russell syndrome due to 11p15 microduplication ICD10:Q87.1 Gene [OrphaNum:123340 ; Name:H19, imprinted maternally expressed untranslated mRNA ; Symbol:H19 ; xref: GENATLAS:H19 ; xref: HGNC:4713 ; xref: OMIM:103280 ; xref: ENSEMBL:ENSG00000130600] OMIM:180860 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 Orphanet ID- 19162 Gene [OrphaNum:159729 ; Name:Insulin-like growth factor 2 (somatomedin A) ; Symbol:IGF2 ; xref: HGNC:5466 ; xref: OMIM:147470 ; xref: UNIPROTKB/SWISSPROT:P01344 ; xref: GENATLAS:IGF2 ; xref: ENSEMBL:ENSG00000167244 ; xref: REACTOME:P01344] Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 UPD(11)mat UPD(11)mat Orphanet ID- 19163 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 EXACT UPD(11)mat Severe combined immunodeficiency T+ B+ due to partial RAG1 deficiency SCID T+ B+ due to partial RAG1 deficiency SCID T+ B+ due to partial RAG1 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231154 Orphanet ID- 19165 OMIM:609889 Gene [OrphaNum:118215 ; Name:Recombination activating gene 1 ; Symbol:RAG1 ; xref: GENATLAS:RAG1 ; xref: HGNC:9831 ; xref: OMIM:179615 ; xref: UNIPROTKB/SWISSPROT:P15918 ; xref: ENSEMBL:ENSG00000166349] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT SCID T+ B+ due to partial RAG1 deficiency Familial cerebral saccular aneurysm Familial berry aneurysm OMIM:614252 OMIM:300870 OMIM:608542 OMIM:612587 OMIM:612586 OMIM:105800 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:612162 OMIM:612161 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160 OMIM:609122 Familial berry aneurysm Orphanet ID- 19166 OMIM:611892 OMIM:610213 EXACT Familial berry aneurysm Usher syndrome type 1 USH1 OMIM:601067 Orphanet ID- 19167 Gene [OrphaNum:120442 ; Name:Usher syndrome 1G (autosomal recessive) ; Symbol:USH1G ; xref: GENATLAS:USH1G ; xref: HGNC:16356 ; xref: OMIM:607696 ; xref: UNIPROTKB/SWISSPROT:Q495M9 ; xref: ENSEMBL:ENSG00000182040] Gene [OrphaNum:123653 ; Name:Myosin VIIA ; Symbol:MYO7A ; xref: GENATLAS:MYO7A ; xref: HGNC:7606 ; xref: OMIM:276903 ; xref: UNIPROTKB/SWISSPROT:Q13402 ; xref: ENSEMBL:ENSG00000137474] Gene [OrphaNum:124119 ; Name:Protocadherin 15 ; Symbol:PCDH15 ; xref: GENATLAS:PCDH15 ; xref: HGNC:14674 ; xref: OMIM:605514 ; xref: UNIPROTKB/SWISSPROT:Q96QU1 ; xref: ENSEMBL:ENSG00000150275] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119281 ; Name:Cadherin-like 23 ; Symbol:CDH23 ; xref: GENATLAS:CDH23 ; xref: HGNC:13733 ; xref: OMIM:605516 ; xref: UNIPROTKB/SWISSPROT:Q9H251 ; xref: ENSEMBL:ENSG00000107736] OMIM:606943 OMIM:602083 Gene [OrphaNum:120433 ; Name:Usher syndrome 1C (autosomal recessive, severe) ; Symbol:USH1C ; xref: GENATLAS:USH1C ; xref: HGNC:12597 ; xref: OMIM:605242 ; xref: UNIPROTKB/SWISSPROT:Q9Y6N9 ; xref: ENSEMBL:ENSG00000006611] Gene [OrphaNum:139795 ; Name:Usher syndrome 1E (autosomal recessive, severe) ; Symbol:USH1E ; xref: GENATLAS:USH1E ; xref: HGNC:12599 ; xref: OMIM:602097] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 OMIM:602097 OMIM:276904 OMIM:276900 USH1 EXACT USH1 Usher syndrome type 2 USH2 Gene [OrphaNum:122270 ; Name:G protein-coupled receptor 98 ; Symbol:GPR98 ; xref: OMIM:602851 ; xref: UNIPROTKB/SWISSPROT:Q8WXG9 ; xref: GENATLAS:GPR98 ; xref: HGNC:17416 ; xref: IUPHAR:189 ; xref: ENSEMBL:ENSG00000164199] OMIM:276901 OMIM:612632 OMIM:611383 Gene [OrphaNum:120447 ; Name:Usher syndrome 2A (autosomal recessive, mild) ; Symbol:USH2A ; xref: GENATLAS:USH2A ; xref: HGNC:12601 ; xref: OMIM:608400 ; xref: UNIPROTKB/SWISSPROT:O75445 ; xref: ENSEMBL:ENSG00000042781] Gene [OrphaNum:239898 ; Name:PDZ domain containing 7 ; Symbol:PDZD7 ; xref: GENATLAS:PDZD7 ; xref: HGNC:26257 ; xref: OMIM:612971 ; xref: UNIPROTKB/SWISSPROT:Q9H5P4 ; xref: ENSEMBL:ENSG00000186862] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:139217 ; Name:Deafness, autosomal recessive 31 ; Symbol:DFNB31 ; xref: GENATLAS:DFNB31 ; xref: HGNC:16361 ; xref: OMIM:607928 ; xref: UNIPROTKB/SWISSPROT:Q9P202 ; xref: ENSEMBL:ENSG00000095397] OMIM:605472 Orphanet ID- 19168 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 USH2 EXACT USH2 Usher syndrome type 3 USH3 Orphanet ID- 19169 Gene [OrphaNum:167905 ; Name:Mitochondrially encoded tRNA serine 2 (AGU/C) ; Symbol:MT-TS2 ; xref: GENATLAS:MT-TS2 ; xref: HGNC:7498 ; xref: OMIM:590085] Gene [OrphaNum:303807 ; Name:Histidyl-tRNA synthetase ; Symbol:HARS ; xref: HGNC:4816 ; xref: OMIM:142810 ; xref: GENATLAS:HARS ; xref: UNIPROTKB/SWISSPROT:P12081] OMIM:614504 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 OMIM:500004 USH3 OMIM:276902 Gene [OrphaNum:120653 ; Name:Clarin 1 ; Symbol:CLRN1 ; xref: GENATLAS:CLRN1 ; xref: HGNC:12605 ; xref: OMIM:606397 ; xref: UNIPROTKB/SWISSPROT:P58418 ; xref: ENSEMBL:ENSG00000163646] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT USH3 Faciocardiorenal syndrome Eastman-Bixler syndrome Orphanet ID- 1917 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 Eastman-Bixler syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:227280 EXACT Eastman-Bixler syndrome Common variable immunodeficiency without known genetic defect Orphanet ID- 19170 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231205 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Beta-thalassemia major Cooley anemia Mediterranean anemia Mediterranean anemia OMIM:613985 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 ICD10:D56.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19171 Cooley anemia EXACT Cooley anemia EXACT Mediterranean anemia Beta-thalassemia intermedia Orphanet ID- 19172 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 ICD10:D56.1 OMIM:613985 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Dominant beta-thalassemia Inclusion body beta-thalassemia Inclusion body beta-thalassemia Orphanet ID- 19173 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] OMIM:603902 ICD10:D56.1 EXACT Inclusion body beta-thalassemia Beta-thalassemia associated with another hemoglobin anomaly Beta-thalassemia associated with another Hb anomaly prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230 Orphanet ID- 19174 Beta-thalassemia associated with another Hb anomaly ICD10:D58.2 EXACT Beta-thalassemia associated with another Hb anomaly Delta-beta thalassemia OMIM:141749 Gene [OrphaNum:281857 ; Name:Hemoglobin, delta ; Symbol:HBD ; xref: ENSEMBL:ENSG00000223609 ; xref: REACTOME:P02042 ; xref: HGNC:4829 ; xref: OMIM:142000 ; xref: GENATLAS:HBD ; xref: UNIPROTKB/SWISSPROT:P02042] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 ICD10:D56.2 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19175 Gene [OrphaNum:233184 ; Name:Hemoglobin, gamma A ; Symbol:HBG1 ; xref: ENSEMBL:ENSG00000213934 ; xref: REACTOME:P69891 ; xref: HGNC:4831 ; xref: GENATLAS:HBG1 ; xref: UNIPROTKB/SWISSPROT:P69891 ; xref: OMIM:142200] Hemoglobin C - beta-thalassemia C- beta-thalassemia HbC - beta-thalassemia HbC - beta-thalassemia Orphanet ID- 19176 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D58.2 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] C- beta-thalassemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 EXACT C- beta-thalassemia EXACT HbC - beta-thalassemia Hemoglobin E - beta-thalassemia E-beta-thalassemia HbE - beta-thalassemia E-beta-thalassemia Orphanet ID- 19177 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] HbE - beta-thalassemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 ICD10:D58.2 EXACT HbE - beta-thalassemia EXACT E-beta-thalassemia Beta-thalassemia - trichothiodystrophy Gene [OrphaNum:121590 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ; Symbol:ERCC2 ; xref: GENATLAS:ERCC2 ; xref: HGNC:3434 ; xref: OMIM:126340 ; xref: UNIPROTKB/SWISSPROT:P18074 ; xref: REACTOME:P18074 ; xref: ENSEMBL:ENSG00000104884] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231256 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:L67.8 Orphanet ID- 19179 ICD10:D56.1 Autosomal recessive facio-digito-genital syndrome Aarskog-like syndrome Facio-digito-genital syndrome, Kuwait type Teebi-Naguib-Alawadi syndrome Facio-digito-genital syndrome, Kuwait type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 1918 OMIM:227330 ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 Aarskog-like syndrome Teebi-Naguib-Alawadi syndrome EXACT Facio-digito-genital syndrome, Kuwait type EXACT Teebi-Naguib-Alawadi syndrome EXACT Aarskog-like syndrome Beta-thalassemia with other manifestations ICD10:D58.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19180 Beta-thalassemia - X-linked thrombocytopenia XLTT XLTT Orphanet ID- 19182 OMIM:314050 ICD10:D69.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 Gene [OrphaNum:122028 ; Name:GATA binding protein 1 (globin transcription factor 1) ; Symbol:GATA1 ; xref: GENATLAS:GATA1 ; xref: HGNC:4170 ; xref: OMIM:305371 ; xref: UNIPROTKB/SWISSPROT:P15976 ; xref: ENSEMBL:ENSG00000102145 ; xref: REACTOME:P15976] ICD10:D56.1 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT XLTT Alpha-thalassemia - myelodysplastic syndrome ATMDS Acquired HbH disease Acquired hemoglobin H disease Orphanet ID- 19184 ICD10:D56.0 Acquired HbH disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 ATMDS prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; ICD10:D46.7 Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] OMIM:300448 Acquired hemoglobin H disease EXACT Acquired HbH disease EXACT Acquired hemoglobin H disease EXACT ATMDS Hermansky-Pudlak syndrome with pulmonary fibrosis HPS with pulmonary fibrosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 OMIM:203300 OMIM:614073 ICD10:E70.3 Gene [OrphaNum:122480 ; Name:Hermansky-Pudlak syndrome 1 ; Symbol:HPS1 ; xref: GENATLAS:HPS1 ; xref: HGNC:5163 ; xref: OMIM:604982 ; xref: UNIPROTKB/SWISSPROT:Q92902 ; xref: ENSEMBL:ENSG00000107521] HPS with pulmonary fibrosis Gene [OrphaNum:122486 ; Name:Hermansky-Pudlak syndrome 4 ; Symbol:HPS4 ; xref: GENATLAS:HPS4 ; xref: HGNC:15844 ; xref: OMIM:606682 ; xref: UNIPROTKB/SWISSPROT:Q9NQG7 ; xref: ENSEMBL:ENSG00000100099] Orphanet ID- 19195 EXACT HPS with pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis HPS without pulmonary fibrosis Orphanet ID- 19196 HPS without pulmonary fibrosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E70.3 Gene [OrphaNum:122490 ; Name:Hermansky-Pudlak syndrome 5 ; Symbol:HPS5 ; xref: GENATLAS:HPS5 ; xref: HGNC:17022 ; xref: OMIM:607521 ; xref: UNIPROTKB/SWISSPROT:Q9UPZ3 ; xref: ENSEMBL:ENSG00000110756] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 Gene [OrphaNum:122492 ; Name:Hermansky-Pudlak syndrome 6 ; Symbol:HPS6 ; xref: GENATLAS:HPS6 ; xref: HGNC:18817 ; xref: OMIM:607522 ; xref: UNIPROTKB/SWISSPROT:Q86YV9 ; xref: ENSEMBL:ENSG00000166189] OMIM:614072 OMIM:614075 Gene [OrphaNum:122483 ; Name:Hermansky-Pudlak syndrome 3 ; Symbol:HPS3 ; xref: GENATLAS:HPS3 ; xref: HGNC:15597 ; xref: OMIM:606118 ; xref: UNIPROTKB/SWISSPROT:Q969F9 ; xref: ENSEMBL:ENSG00000163755] OMIM:614074 EXACT HPS without pulmonary fibrosis Hermansky-Pudlak syndrome type 7 HPS7 Gene [OrphaNum:121227 ; Name:Dystrobrevin binding protein 1 ; Symbol:DTNBP1 ; xref: GENATLAS:DTNBP1 ; xref: HGNC:17328 ; xref: OMIM:607145 ; xref: UNIPROTKB/SWISSPROT:Q96EV8 ; xref: ENSEMBL:ENSG00000047579 ; xref: REACTOME:Q96EV8] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 Orphanet ID- 19198 HPS7 ICD10:E70.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614076 EXACT HPS7 Hermansky-Pudlak syndrome type 8 HPS8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614077 HPS8 Orphanet ID- 19199 Gene [OrphaNum:119045 ; Name:Biogenesis of lysosome-related organelles complex-1, subunit 3 ; Symbol:BLOC1S3 ; xref: GENATLAS:BLOC1S3 ; xref: HGNC:20914 ; xref: OMIM:609762 ; xref: UNIPROTKB/SWISSPROT:Q6QNY0 ; xref: REACTOME:Q6QNY0 ; xref: ENSEMBL:ENSG00000189114] ICD10:E70.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231537 EXACT HPS8 Hereditary neuropathy with liability to pressure palsies HNPP Microdeletion 17p12 Tomaculous neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 Orphanet ID- 192 ICD10:G60.0 HNPP Tomaculous neuropathy prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:117908 ; Name:Peripheral myelin protein 22 ; Symbol:PMP22 ; xref: GENATLAS:PMP22 ; xref: HGNC:9118 ; xref: OMIM:601097 ; xref: UNIPROTKB/SWISSPROT:Q01453 ; xref: ENSEMBL:ENSG00000109099] Microdeletion 17p12 OMIM:162500 EXACT Tomaculous neuropathy EXACT HNPP EXACT Microdeletion 17p12 Late-onset localized junctional epidermolysis bullosa - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; OMIM:226440 Orphanet ID- 19200 ICD10:Q81.8 Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types DDEB, Pasini and Cockayne-Touraine types ICD10:Q81.2 Orphanet ID- 19201 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 DDEB, Pasini and Cockayne-Touraine types EXACT DDEB, Pasini and Cockayne-Touraine types Isolated growth hormone deficiency type IA Congenital IGHD type IA Congenital isolated GH deficiency type IA Congenital isolated growth hormone deficiency type IA Orphanet ID- 19209 Gene [OrphaNum:122092 ; Name:Growth hormone 1 ; Symbol:GH1 ; xref: GENATLAS:GH1 ; xref: HGNC:4261 ; xref: OMIM:139250 ; xref: UNIPROTKB/SWISSPROT:P01241 ; xref: ENSEMBL:ENSG00000259384 ; xref: REACTOME:P01241] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital isolated GH deficiency type IA Congenital isolated growth hormone deficiency type IA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662 OMIM:262400 Congenital IGHD type IA EXACT Congenital IGHD type IA EXACT Congenital isolated GH deficiency type IA EXACT Congenital isolated growth hormone deficiency type IA Isolated growth hormone deficiency type IB Congenital IGHD type IB Congenital isolated GH deficiency type IB Congenital isolated growth hormone deficiency type IB Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 Congenital IGHD type IB Gene [OrphaNum:122092 ; Name:Growth hormone 1 ; Symbol:GH1 ; xref: GENATLAS:GH1 ; xref: HGNC:4261 ; xref: OMIM:139250 ; xref: UNIPROTKB/SWISSPROT:P01241 ; xref: ENSEMBL:ENSG00000259384 ; xref: REACTOME:P01241] Gene [OrphaNum:201252 ; Name:Growth hormone secretagogue receptor ; Symbol:GHSR ; xref: ENSEMBL:ENSG00000121853 ; xref: REACTOME:Q92847 ; xref: IUPHAR:246 ; xref: GENATLAS:GHSR ; xref: HGNC:4267 ; xref: OMIM:601898 ; xref: UNIPROTKB/SWISSPROT:Q92847] Congenital isolated GH deficiency type IB Gene [OrphaNum:122097 ; Name:Growth hormone releasing hormone receptor ; Symbol:GHRHR ; xref: GENATLAS:GHRHR ; xref: HGNC:4266 ; xref: OMIM:139191 ; xref: UNIPROTKB/SWISSPROT:Q02643 ; xref: IUPHAR:247 ; xref: ENSEMBL:ENSG00000106128 ; xref: REACTOME:Q02643] OMIM:612781 Congenital isolated growth hormone deficiency type IB Orphanet ID- 19210 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Congenital isolated growth hormone deficiency type IB EXACT Congenital isolated GH deficiency type IB EXACT Congenital IGHD type IB Isolated growth hormone deficiency type II Congenital IGHD type II Congenital isolated GH deficiency type II Congenital isolated growth hormone deficiency type II Orphanet ID- 19211 Congenital isolated growth hormone deficiency type II Congenital isolated GH deficiency type II prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Congenital IGHD type II Gene [OrphaNum:122092 ; Name:Growth hormone 1 ; Symbol:GH1 ; xref: GENATLAS:GH1 ; xref: HGNC:4261 ; xref: OMIM:139250 ; xref: UNIPROTKB/SWISSPROT:P01241 ; xref: ENSEMBL:ENSG00000259384 ; xref: REACTOME:P01241] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 OMIM:173100 EXACT Congenital IGHD type II EXACT Congenital isolated GH deficiency type II EXACT Congenital isolated growth hormone deficiency type II Isolated growth hormone deficiency type III Congenital IGHD type III Congenital isolated GH deficiency type III Congenital isolated growth hormone deficiency type III X-linked IGHD X-linked isolated growth hormone deficiency Congenital isolated growth hormone deficiency type III X-linked IGHD OMIM:307200 X-linked isolated growth hormone deficiency OMIM:300123 Orphanet ID- 19212 Congenital isolated GH deficiency type III prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692 Congenital IGHD type III EXACT X-linked isolated growth hormone deficiency EXACT Congenital isolated GH deficiency type III EXACT Congenital IGHD type III EXACT X-linked IGHD EXACT Congenital isolated growth hormone deficiency type III Nonacquired combined pituitary hormone deficiency with spine abnormalities OMIM:221750 Orphanet ID- 19213 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 Gene [OrphaNum:123053 ; Name:LIM homeobox 3 ; Symbol:LHX3 ; xref: GENATLAS:LHX3 ; xref: HGNC:6595 ; xref: OMIM:600577 ; xref: UNIPROTKB/SWISSPROT:Q9UBR4 ; xref: ENSEMBL:ENSG00000107187] Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma MPPC syndrome Orphanet ID- 19214 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736 MPPC syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; EXACT MPPC syndrome Epibulbar lipodermoid - preauricular appendage - polythelia Orphanet ID- 19215 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742 Alpha-thalassemia-related diseases prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288 Orphanet ID- 19226 Bilateral striopallidodentate calcinosis BSPDC Ferrocalcinosis cerebro vascular Idiopathic basal ganglia calcification OMIM:606656 ICD10:G23.8 Ferrocalcinosis cerebro vascular Orphanet ID- 1923 OMIM:114100 Gene [OrphaNum:293028 ; Name:Solute carrier family 20 (phosphate transporter), member 2 ; Symbol:SLC20A2 ; xref: HGNC:10947 ; xref: GENATLAS:SLC20A2 ; xref: OMIM:158378 ; xref: UNIPROTKB/SWISSPROT:Q08357] OMIM:213600 Idiopathic basal ganglia calcification prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 OMIM:614540 BSPDC EXACT Idiopathic basal ganglia calcification EXACT BSPDC EXACT Ferrocalcinosis cerebro vascular Rare genetic vascular disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233655 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19238 Fechtner syndrome Alport syndrome with leukocyte inclusions and macrothrombocytopenia ICD10:D69.4 Gene [OrphaNum:123628 ; Name:Myosin, heavy chain 9, non-muscle ; Symbol:MYH9 ; xref: GENATLAS:MYH9 ; xref: HGNC:7579 ; xref: OMIM:160775 ; xref: UNIPROTKB/SWISSPROT:P35579 ; xref: REACTOME:P35579 ; xref: ENSEMBL:ENSG00000100345] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1984 Orphanet ID- 1924 Alport syndrome with leukocyte inclusions and macrothrombocytopenia OMIM:153640 EXACT Alport syndrome with leukocyte inclusions and macrothrombocytopenia Familial hyperaldosteronism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936 Orphanet ID- 19251 Gollop-Wolfgang complex Bifid femur - monodactylous ectrodactyly prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 Bifid femur - monodactylous ectrodactyly Orphanet ID- 1926 OMIM:228250 EXACT Bifid femur - monodactylous ectrodactyly Familial renal amyloidosis due to Apolipoprotein AII variant Apolipoprotein AII amyloidosis Familial amyloid nephropathy due to Apolipoprotein AII variant Hereditary amyloid nephropathy due to Apolipoprotein AII variant Hereditary renal amyloidosis due to Apolipoprotein AII variant Familial amyloid nephropathy due to Apolipoprotein AII variant OMIM:107670 Gene [OrphaNum:188814 ; Name:Apolipoprotein A-II ; Symbol:APOA2 ; xref: ENSEMBL:ENSG00000158874 ; xref: GENATLAS:APOA2 ; xref: HGNC:601 ; xref: OMIM:107670 ; xref: UNIPROTKB/SWISSPROT:P02652 ; xref: REACTOME:P02652] Orphanet ID- 19260 Hereditary amyloid nephropathy due to Apolipoprotein AII variant Hereditary renal amyloidosis due to Apolipoprotein AII variant Apolipoprotein AII amyloidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Apolipoprotein AII amyloidosis EXACT Hereditary amyloid nephropathy due to Apolipoprotein AII variant EXACT Hereditary renal amyloidosis due to Apolipoprotein AII variant EXACT Familial amyloid nephropathy due to Apolipoprotein AII variant Infundibulo-neurohypophysitis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19261 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238305 Severe X-linked mitochondrial encephalomyopathy Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 OMIM:300816 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:244686 ; Name:Apoptosis-inducing factor, mitochondrion-associated, 1 ; Symbol:AIFM1 ; xref: HGNC:8768 ; xref: GENATLAS:AIFM1 ; xref: OMIM:300169 ; xref: ENSEMBL:ENSG00000156709 ; xref: UNIPROTKB/SWISSPROT:O95831] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 Orphanet ID- 19262 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 EXACT Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 EXACT Mitochondrial encephalomyopathy due to COXPD6 15q11q13 microduplication syndrome 15q11-q13 duplication syndrome 15q11-q13 microduplication syndrome 15q11q13 duplication syndrome Dup(15)(q11q13) Trisomy 15q11-q13 Trisomy 15q11q13 Trisomy 15q11q13 ICD10:Q92.3 Dup(15)(q11q13) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446 Trisomy 15q11-q13 Orphanet ID- 19263 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; 15q11-q13 duplication syndrome 15q11-q13 microduplication syndrome OMIM:608636 15q11q13 duplication syndrome EXACT Trisomy 15q11-q13 EXACT 15q11-q13 microduplication syndrome EXACT 15q11q13 duplication syndrome EXACT 15q11-q13 duplication syndrome EXACT Trisomy 15q11q13 EXACT Dup(15)(q11q13) Infantile dystonia-parkinsonism Orphanet ID- 19264 OMIM:613135 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 Gene [OrphaNum:244693 ; Name:Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 ; Symbol:SLC6A3 ; xref: HGNC:11049 ; xref: GENATLAS:SLC6A3 ; xref: OMIM:126455 ; xref: UNIPROTKB/SWISSPROT:Q01959 ; xref: ENSEMBL:ENSG00000142319 ; xref: REACTOME:Q01959] CDG syndrome type IIf CDG2F Carbohydrate deficient glycoprotein syndrome type IIf Congenital disorder of glycosylation type 2f Congenital disorder of glycosylation type IIf Gene [OrphaNum:139197 ; Name:Solute carrier family 35 (CMP-sialic acid transporter), member A1 ; Symbol:SLC35A1 ; xref: GENATLAS:SLC35A1 ; xref: HGNC:11021 ; xref: OMIM:605634 ; xref: UNIPROTKB/SWISSPROT:P78382 ; xref: ENSEMBL:ENSG00000164414 ; xref: REACTOME:P78382] Orphanet ID- 19265 ICD10:E77.8 OMIM:603585 Congenital disorder of glycosylation type IIf prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- No data available; Congenital disorder of glycosylation type 2f CDG2F Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 Carbohydrate deficient glycoprotein syndrome type IIf EXACT CDG2F EXACT Congenital disorder of glycosylation type 2f EXACT Carbohydrate deficient glycoprotein syndrome type IIf EXACT Congenital disorder of glycosylation type IIf Hypohidrotic ectodermal dysplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19266 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 Familial hypercholanemia FHC Hereditary hypercholanemia Gene [OrphaNum:121574 ; Name:Epoxide hydrolase 1, microsomal (xenobiotic) ; Symbol:EPHX1 ; xref: GENATLAS:EPHX1 ; xref: HGNC:3401 ; xref: OMIM:132810 ; xref: UNIPROTKB/SWISSPROT:P07099 ; xref: ENSEMBL:ENSG00000143819] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 OMIM:607748 Gene [OrphaNum:242924 ; Name:Tight junction protein 2 (zona occludens 2) ; Symbol:TJP2 ; xref: ENSEMBL:ENSG00000119139 ; xref: REACTOME:Q9UDY2 ; xref: GENATLAS:TJP2 ; xref: HGNC:11828 ; xref: UNIPROTKB/SWISSPROT:Q9UDY2 ; xref: OMIM:607709] Gene [OrphaNum:244706 ; Name:Bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) ; Symbol:BAAT ; xref: HGNC:932 ; xref: GENATLAS:BAAT ; xref: UNIPROTKB/SWISSPROT:Q14032 ; xref: OMIM:602938 ; xref: ENSEMBL:ENSG00000136881 ; xref: REACTOME:Q14032] FHC Orphanet ID- 19267 Hereditary hypercholanemia EXACT FHC EXACT Hereditary hypercholanemia Autosomal recessive lymphoproliferative disease IL-2-inducible T-cell kinase deficiency ITK deficiency Orphanet ID- 19269 IL-2-inducible T-cell kinase deficiency OMIM:613011 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 Gene [OrphaNum:244711 ; Name:IL2-inducible T-cell kinase ; Symbol:ITK ; xref: GENATLAS:ITK ; xref: HGNC:6171 ; xref: UNIPROTKB/SWISSPROT:Q08881 ; xref: OMIM:186973 ; xref: ENSEMBL:ENSG00000113263 ; xref: REACTOME:Q08881] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ITK deficiency EXACT IL-2-inducible T-cell kinase deficiency EXACT ITK deficiency Femoral agenesis/hypoplasia Congenital short femur Femoral intercalary meromelia Orphanet ID- 1927 Congenital short femur Femoral intercalary meromelia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987 EXACT Femoral intercalary meromelia EXACT Congenital short femur Lymphoproliferative disorder with immunodeficiency Orphanet ID- 19270 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238510 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypotonia - cystinuria type 1 Orphanet ID- 19271 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Atypical hypotonia - cystinuria syndrome Atypical HCS Gene [OrphaNum:165929 ; Name:Prolyl endopeptidase-like ; Symbol:PREPL ; xref: GENATLAS:PREPL ; xref: HGNC:30228 ; xref: OMIM:609557 ; xref: UNIPROTKB/SWISSPROT:Q4J6C6 ; xref: ENSEMBL:ENSG00000138078] Orphanet ID- 19272 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 OMIM:606407 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:244716 ; Name:calmodulin-lysine N-methyltransferase ; Symbol:CAMKMT ; xref: GENATLAS:C2orf34 ; xref: HGNC:26276 ; xref: UNIPROTKB/SWISSPROT:Q7Z624 ; xref: OMIM:609559 ; xref: ENSEMBL:ENSG00000143919] Atypical HCS Gene [OrphaNum:123426 ; Name:Solute carrier family 3 (cystine and activator, dibasic and neutral amino acid transporters/transport), member 1 ; Symbol:SLC3A1 ; xref: GENATLAS:SLC3A1 ; xref: HGNC:11025 ; xref: OMIM:104614 ; xref: UNIPROTKB/SWISSPROT:Q07837 ; xref: REACTOME:Q07837 ; xref: ENSEMBL:ENSG00000138079] EXACT Atypical HCS Congenital secondary polycythemia Congenital secondary erythrocytosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536 Orphanet ID- 19273 Congenital secondary erythrocytosis ICD10:D75.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Congenital secondary erythrocytosis Acquired secondary polycythemia Acquired secondary erythrocytosis Orphanet ID- 19275 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238547 Acquired secondary erythrocytosis prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; ICD10:D75.1 EXACT Acquired secondary erythrocytosis Chuvash erythrocytosis Chuvash polycythemia Von Hippel-Lindau-dependent polycythemia Chuvash polycythemia Gene [OrphaNum:120467 ; Name:Von Hippel-Lindau tumor suppressor ; Symbol:VHL ; xref: GENATLAS:VHL ; xref: HGNC:12687 ; xref: OMIM:608537 ; xref: UNIPROTKB/SWISSPROT:P40337 ; xref: ENSEMBL:ENSG00000134086 ; xref: REACTOME:P40337] OMIM:263400 Von Hippel-Lindau-dependent polycythemia Orphanet ID- 19276 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557 ICD10:D75.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Chuvash polycythemia EXACT Von Hippel-Lindau-dependent polycythemia Autosomal recessive early-onset inflammatory bowel disease Autosomal recessive early-onset IBD Autosomal recessive early-onset IBD OMIM:613148 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 Gene [OrphaNum:244742 ; Name:Interleukin 10 receptor, beta ; Symbol:IL10RB ; xref: HGNC:5965 ; xref: GENATLAS:IL10RB ; xref: OMIM:123889 ; xref: UNIPROTKB/SWISSPROT:Q08334 ; xref: ENSEMBL:ENSG00000243646] Gene [OrphaNum:244737 ; Name:Interleukin 10 receptor, alpha ; Symbol:IL10RA ; xref: OMIM:146933 ; xref: UNIPROTKB/SWISSPROT:Q13651 ; xref: HGNC:5964 ; xref: GENATLAS:IL10RA ; xref: ENSEMBL:ENSG00000110324] Orphanet ID- 19277 OMIM:612567 EXACT Autosomal recessive early-onset IBD Familial clubfoot due to 17q23.1q23.2 microduplication Hereditary clubfoot due to 17q23.1-q23.2 microduplication Orphanet ID- 19278 Hereditary clubfoot due to 17q23.1-q23.2 microduplication OMIM:613618 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 ICD10:Q92.3 Gene [OrphaNum:119966 ; Name:T-box 4 ; Symbol:TBX4 ; xref: GENATLAS:TBX4 ; xref: HGNC:11603 ; xref: OMIM:601719 ; xref: UNIPROTKB/SWISSPROT:P57082 ; xref: ENSEMBL:ENSG00000121075] EXACT Hereditary clubfoot due to 17q23.1-q23.2 microduplication Hyperphenylalaninemia Hyperphenylalaninemia due to BH4 deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Nonphenylketonuric hyperphenylalaninemia Hyperphenylalaninemia due to BH4 deficiency Nonphenylketonuric hyperphenylalaninemia Orphanet ID- 19279 ICD10:E70.1 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency EXACT Hyperphenylalaninemia due to BH4 deficiency EXACT Nonphenylketonuric hyperphenylalaninemia EXACT Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Femoral-facial syndrome FFS FHUFS Femoral hypoplasia - unusual facies syndrome FFS Orphanet ID- 1928 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 FHUFS OMIM:134780 Femoral hypoplasia - unusual facies syndrome prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT FFS EXACT FHUFS EXACT Femoral hypoplasia - unusual facies syndrome Beckwith-Wiedemann syndrome due to NSD1 mutation ICD10:Q87.3 Gene [OrphaNum:123937 ; Name:Nuclear receptor binding SET domain protein 1 ; Symbol:NSD1 ; xref: GENATLAS:NSD1 ; xref: HGNC:14234 ; xref: OMIM:606681 ; xref: UNIPROTKB/SWISSPROT:Q96L73 ; xref: ENSEMBL:ENSG00000165671] Orphanet ID- 19282 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Megacystis-megaureter syndrome Megaureter-megacystis syndrome prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:Q62.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637 Megaureter-megacystis syndrome Orphanet ID- 19287 EXACT Megaureter-megacystis syndrome Primary megaureter, adult-onset form Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Unknown; Orphanet ID- 19288 Congenital primary megaureter, obstructed form Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 19289 ICD10:Q62.2 Congenital primary megaureter, refluxing form ICD10:Q62.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 19290 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 Congenital primary megaureter, nonrefluxing and unobstructed form prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; ICD10:Q62.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 Orphanet ID- 19291 Isolated congenital hypogonadotropic hypogonadism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 Orphanet ID- 19292 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Isolated thyrotropin-releasing hormone deficiency Isolated TRF deficiency Isolated TRH deficiency Isolated TSH-releasing factor deficiency Isolated prothyroliberin deficiency Isolated protirelin deficiency Isolated thyroliberin deficiency Isolated thyrotropin-releasing factor deficiency OMIM:275120 Isolated TSH-releasing factor deficiency Isolated protirelin deficiency Isolated thyroliberin deficiency Isolated TRF deficiency Isolated TRH deficiency prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 19293 Isolated prothyroliberin deficiency Isolated thyrotropin-releasing factor deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 EXACT Isolated TRF deficiency EXACT Isolated protirelin deficiency EXACT Isolated prothyroliberin deficiency EXACT Isolated TSH-releasing factor deficiency EXACT Isolated thyroliberin deficiency EXACT Isolated TRH deficiency EXACT Isolated thyrotropin-releasing factor deficiency Neonatal iodine exposure Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238688 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19294 Congenital liver hemangioma Congenital hepatic hemangioma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238691 Orphanet ID- 19295 Congenital hepatic hemangioma prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Congenital hepatic hemangioma Transient congenital hypothyroidism due to maternal factor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238696 Orphanet ID- 19296 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Transient congenital hypothyroidism due to neonatal factor prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238699 Orphanet ID- 19297 Familial congenital mirror movements Familial congenital controlateral synkinesia Hereditary congenital controlateral synkinesia Hereditary congenital mirror movements Isolated congenital controlateral synkinesia Isolated congenital mirror movements Hereditary congenital controlateral synkinesia Isolated congenital controlateral synkinesia OMIM:157600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 OMIM:614508 Familial congenital controlateral synkinesia Isolated congenital mirror movements Hereditary congenital mirror movements Gene [OrphaNum:118208 ; Name:RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) ; Symbol:RAD51 ; xref: GENATLAS:RAD51 ; xref: HGNC:9817 ; xref: OMIM:179617 ; xref: UNIPROTKB/SWISSPROT:Q06609 ; xref: REACTOME:Q06609 ; xref: ENSEMBL:ENSG00000051180] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 19298 Gene [OrphaNum:244810 ; Name:Deleted in colorectal carcinoma ; Symbol:DCC ; xref: OMIM:120470 ; xref: REACTOME:P43146 ; xref: GENATLAS:DCC ; xref: HGNC:2701 ; xref: UNIPROTKB/SWISSPROT:P43146 ; xref: ENSEMBL:ENSG00000187323] EXACT Hereditary congenital mirror movements EXACT Isolated congenital mirror movements EXACT Hereditary congenital controlateral synkinesia EXACT Familial congenital controlateral synkinesia EXACT Isolated congenital controlateral synkinesia Mammary-digital-nail syndrome MDN syndrome onycho-digito-mammary syndrome Orphanet ID- 19299 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; MDN syndrome OMIM:613689 onycho-digito-mammary syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 EXACT onycho-digito-mammary syndrome EXACT MDN syndrome Pearson syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic; Orphanet ID- 193 OMIM:557000 ICD10:D64.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 4q21 microdeletion syndrome Del(4)(q21) Monosomy 4q21 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750 OMIM:613509 Monosomy 4q21 Del(4)(q21) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19300 EXACT Del(4)(q21) EXACT Monosomy 4q21 Autosomal dominant limb-girdle muscular dystrophy type 1H LGMD1H OMIM:613530 Orphanet ID- 19301 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238755 LGMD1H ICD10:G71.0 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT LGMD1H Megalocornea - spherophakia - secondary glaucoma Gene [OrphaNum:189348 ; Name:Latent transforming growth factor beta binding protein 2 ; Symbol:LTBP2 ; xref: ENSEMBL:ENSG00000119681 ; xref: GENATLAS:LTBP2 ; xref: HGNC:6715 ; xref: OMIM:602091 ; xref: UNIPROTKB/SWISSPROT:Q14767] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19302 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 Ptosis - syndactyly - learning difficulties Orphanet ID- 19304 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238766 1q44 microdeletion syndrome Del(1)(q44) Monosomy 1q44 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Del(1)(q44) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769 ICD10:Q93.5 Monosomy 1q44 Orphanet ID- 19305 EXACT Monosomy 1q44 EXACT Del(1)(q44) Pai syndrome Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps OMIM:155145 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 1931 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 ICD10:Q87.8 Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps EXACT Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps Cleft lip - retinopathy Ausems-Wittebol Post-Hennekam syndrome Orphanet ID- 1932 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995 Ausems-Wittebol Post-Hennekam syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Ausems-Wittebol Post-Hennekam syndrome Classical progressive supranuclear palsy Classical PSP Richardson's syndrome Steele-Richardson-Olszewski disease Orphanet ID- 19331 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 Steele-Richardson-Olszewski disease OMIM:610898 OMIM:601104 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic; Classical PSP ICD10:G23.1 Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] Richardson's syndrome OMIM:609454 EXACT Classical PSP EXACT Steele-Richardson-Olszewski disease EXACT Richardson's syndrome Progressive supranuclear palsy - parkinsonism PSP-p PSP-parkinsonism ICD10:G23.1 Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 Orphanet ID- 19332 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic; OMIM:260540 PSP-p PSP-parkinsonism EXACT PSP-p EXACT PSP-parkinsonism Progressive supranuclear palsy - pure akinesia with gait freezing PSP-PAGF PSP-pure akinesia with gait freezing prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic; Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 ICD10:G23.1 PSP-PAGF Orphanet ID- 19333 PSP-pure akinesia with gait freezing EXACT PSP-pure akinesia with gait freezing EXACT PSP-PAGF Progressive supranuclear palsy - corticobasal syndrome PSP-CBS PSP-corticobasal syndrome ICD10:G23.1 PSP-CBS prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic; PSP-corticobasal syndrome Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 Orphanet ID- 19334 EXACT PSP-CBS EXACT PSP-corticobasal syndrome Progressive supranuclear palsy - progressive non fluent aphasia PSP-AOS PSP-PNFA Progressive supranuclear palsy - apraxia of speech Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] Progressive supranuclear palsy - apraxia of speech prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Sporadic; PSP-AOS ICD10:G23.1 PSP-PNFA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 Orphanet ID- 19335 EXACT PSP-PNFA EXACT Progressive supranuclear palsy - apraxia of speech EXACT PSP-AOS Syndromic obesity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371 Orphanet ID- 19337 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Blepharo-cheilo-odontic syndrome Clefting - ectropion - conical teeth Ectropion inferior - cleft lip and or palate Elsching syndrome Lagophthalmia - cleft lip and palate prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Clefting - ectropion - conical teeth Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 OMIM:119580 Lagophthalmia - cleft lip and palate Elsching syndrome ICD10:Q87.8 Ectropion inferior - cleft lip and or palate Orphanet ID- 1934 EXACT Ectropion inferior - cleft lip and or palate EXACT Lagophthalmia - cleft lip and palate EXACT Elsching syndrome EXACT Clefting - ectropion - conical teeth Nijmegen breakage syndrome-like disorder Microcephaly and chromosomal instability without immunodeficiency NBS-like disorder NBSLD RAD50 deficiency NBS-like disorder Microcephaly and chromosomal instability without immunodeficiency Gene [OrphaNum:242004 ; Name:RAD50 homolog (S. cerevisiae) ; Symbol:RAD50 ; xref: GENATLAS:RAD50 ; xref: HGNC:9816 ; xref: UNIPROTKB/SWISSPROT:Q92878 ; xref: GENATLAS:604040 ; xref: REACTOME:Q92878 ; xref: ENSEMBL:ENSG00000113522] NBSLD RAD50 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 Orphanet ID- 19345 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT RAD50 deficiency EXACT NBS-like disorder EXACT Microcephaly and chromosomal instability without immunodeficiency EXACT NBSLD Cleft lip/palate - intestinal malrotation - cardiopathy McPherson-Clemens syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 OMIM:601165 Orphanet ID- 1938 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; McPherson-Clemens syndrome EXACT McPherson-Clemens syndrome Alpha-1 antitrypsin deficiency Orphanet ID- 194 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E88.0 OMIM:613490 Gene [OrphaNum:118602 ; Name:Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 ; Symbol:SERPINA1 ; xref: GENATLAS:SERPINA1 ; xref: HGNC:8941 ; xref: OMIM:107400 ; xref: UNIPROTKB/SWISSPROT:P01009 ; xref: ENSEMBL:ENSG00000197249 ; xref: REACTOME:P01009] Cleft lip/palate - deafness - sacral lipoma Lowry-Yong syndrome Lowry-Yong syndrome Orphanet ID- 1940 OMIM:223200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 EXACT Lowry-Yong syndrome Laryngo-tracheo-esophageal cleft LC LTEC Laryngo-tracheo-esophageal diastema OMIM:215800 Orphanet ID- 1941 LTEC LC ICD10:Q32.1 Laryngo-tracheo-esophageal diastema Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Laryngo-tracheo-esophageal diastema EXACT LC EXACT LTEC Alar cartilages hypoplasia - coloboma - telecanthus ICD10:Q75.8 Orphanet ID- 1943 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:203000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007 Acro-cardio-facial syndrome ACFS CCGE syndrome Cleft palate - cardiac defect - genital anomalies - ectrodactyly Orphanet ID- 1945 ICD10:Q87.8 CCGE syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 ACFS OMIM:600460 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Cleft palate - cardiac defect - genital anomalies - ectrodactyly EXACT ACFS EXACT Cleft palate - cardiac defect - genital anomalies - ectrodactyly EXACT CCGE syndrome Cleft palate - stapes fixation - oligodontia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 1946 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010 OMIM:216300 Dimethylglycine dehydrogenase deficiency DMG dehydrogenase deficiency DMGDH deficiency ICD10:E72.5 DMGDH deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 Orphanet ID- 19468 OMIM:605850 Gene [OrphaNum:244279 ; Name:Dimethylglycine dehydrogenase ; Symbol:DMGDH ; xref: ENSEMBL:ENSG00000132837 ; xref: HGNC:24475 ; xref: GENATLAS:DMGDH ; xref: OMIM:605849 ; xref: UNIPROTKB/SWISSPROT:Q9UI17] DMG dehydrogenase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT DMG dehydrogenase deficiency EXACT DMGDH deficiency Biliary atresia with splenic malformation syndrome BASM syndrome BASM syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Orphanet ID- 19476 Gene [OrphaNum:119359 ; Name:Cripto, FRL-1, cryptic family 1 ; Symbol:CFC1 ; xref: GENATLAS:CFC1 ; xref: HGNC:18292 ; xref: OMIM:605194 ; xref: UNIPROTKB/SWISSPROT:Q9GZR3 ; xref: REACTOME:Q9GZR3 ; xref: ENSEMBL:ENSG00000136698] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 EXACT BASM syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 OMIM:612286 OMIM:612287 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:244322 ; Name:Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 ; Symbol:SLC9A3R1 ; xref: ENSEMBL:ENSG00000109062 ; xref: GENATLAS:SLC9A3R1 ; xref: HGNC:11075 ; xref: OMIM:604990 ; xref: UNIPROTKB/SWISSPROT:O14745] Orphanet ID- 19477 Gene [OrphaNum:227390 ; Name:Solute carrier family 34 (sodium phosphate), member 1 ; Symbol:SLC34A1 ; xref: GENATLAS:SLC34A1 ; xref: HGNC:11019 ; xref: UNIPROTKB/SWISSPROT:Q06495 ; xref: OMIM:182309 ; xref: ENSEMBL:ENSG00000131183 ; xref: REACTOME:Q06495] CDG syndrome type In CDG1N Carbohydrate deficient glycoprotein syndrome type In Congenital disorder of glycosylation type 1n Congenital disorder of glycosylation type In Gene [OrphaNum:244547 ; Name:RFT1 homolog (S. cerevisiae) ; Symbol:RFT1 ; xref: GENATLAS:RFT1 ; xref: HGNC:30220 ; xref: OMIM:611908 ; xref: UNIPROTKB/SWISSPROT:Q96AA3 ; xref: ENSEMBL:ENSG00000163933 ; xref: REACTOME:Q96AA3] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Carbohydrate deficient glycoprotein syndrome type In Orphanet ID- 19478 Congenital disorder of glycosylation type In Congenital disorder of glycosylation type 1n CDG1N Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 OMIM:612015 EXACT Congenital disorder of glycosylation type In EXACT CDG1N EXACT Congenital disorder of glycosylation type 1n EXACT Carbohydrate deficient glycoprotein syndrome type In Cleft palate - large ears - small head Say-Barber-Hobbs syndrome Say-Barber-Hobbs syndrome Orphanet ID- 1949 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:181180 EXACT Say-Barber-Hobbs syndrome Cleft palate-lateral synechia syndrome Orphanet ID- 1950 OMIM:119550 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 ICD10:Q87.8 Progressive cerebello-cerebral atrophy PCCA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 PCCA prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19511 Gene [OrphaNum:251270 ; Name:Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ; Symbol:SEPSECS ; xref: GENATLAS:SEPSECS ; xref: HGNC:30605 ; xref: OMIM:613009 ; xref: UNIPROTKB/SWISSPROT:Q9HD40 ; xref: ENSEMBL:ENSG00000109618] EXACT PCCA Hyperphosphatasia intellectual deficiency syndrome HPMR Mabry syndrome Gene [OrphaNum:304648 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class O ; Symbol:PIGO ; xref: HGNC:23215 ; xref: OMIM:614730 ; xref: UNIPROTKB/SWISSPROT:Q8TEQ8 ; xref: GENATLAS:PIGO] Mabry syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 Orphanet ID- 19518 OMIM:239300 Gene [OrphaNum:251503 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class V ; Symbol:PIGV ; xref: ENSEMBL:ENSG00000060642 ; xref: REACTOME:Q9NUD9 ; xref: GENATLAS:PIGV ; xref: HGNC:26031 ; xref: OMIM:610274 ; xref: UNIPROTKB/SWISSPROT:Q9NUD9] HPMR OMIM:614749 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT HPMR EXACT Mabry syndrome Femur-fibula-ulna complex FFU complex Femur-fibula-ulna dysostosis Femur-fibula-ulna syndrome PFFD Proximal focal femoral deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019 Femur-fibula-ulna syndrome FFU complex PFFD ICD10:Q72.8 Femur-fibula-ulna dysostosis Orphanet ID- 1952 OMIM:228200 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Proximal focal femoral deficiency EXACT Femur-fibula-ulna syndrome EXACT FFU complex EXACT Femur-fibula-ulna dysostosis EXACT PFFD EXACT Proximal focal femoral deficiency Autosomal recessive secondary polycythemia not associated with VHL gene Autosomal recessive secondary erythrocytosis not associated with VHL gene Autosomal recessive secondary erythrocytosis, non Chuvash type Autosomal recessive secondary polycythemia, non Chuvash type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378 Autosomal recessive secondary polycythemia, non Chuvash type ICD10:D75.1 Autosomal recessive secondary erythrocytosis not associated with VHL gene Autosomal recessive secondary erythrocytosis, non Chuvash type Orphanet ID- 19521 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Autosomal recessive secondary polycythemia, non Chuvash type EXACT Autosomal recessive secondary erythrocytosis not associated with VHL gene EXACT Autosomal recessive secondary erythrocytosis, non Chuvash type Autosomal dominant secondary polycythemia Autosomal dominant secondary erythrocytosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:611783 OMIM:609820 ICD10:D75.1 Orphanet ID- 19522 Gene [OrphaNum:183913 ; Name:Endothelial PAS domain protein 1 ; Symbol:EPAS1 ; xref: GENATLAS:EPAS1 ; xref: HGNC:3374 ; xref: OMIM:603349 ; xref: UNIPROTKB/SWISSPROT:Q99814 ; xref: ENSEMBL:ENSG00000116016] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 Autosomal dominant secondary erythrocytosis Gene [OrphaNum:171073 ; Name:Egl nine homolog 1 (C. elegans) ; Symbol:EGLN1 ; xref: GENATLAS:EGLN1 ; xref: HGNC:1232 ; xref: OMIM:606425 ; xref: UNIPROTKB/SWISSPROT:Q9GZT9 ; xref: ENSEMBL:ENSG00000135766] EXACT Autosomal dominant secondary erythrocytosis Primary ciliary dyskinesia - retinitis pigmentosa OMIM:300455 Gene [OrphaNum:118381 ; Name:Retinitis pigmentosa GTPase regulator ; Symbol:RPGR ; xref: GENATLAS:RPGR ; xref: HGNC:10295 ; xref: OMIM:312610 ; xref: UNIPROTKB/SWISSPROT:Q92834 ; xref: ENSEMBL:ENSG00000156313] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 19523 Citrullinemia type I ASS deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency CTLN1 Citrullinemia type 1 Classic citrullinemia Argininosuccinic acid synthase deficiency Citrullinemia type 1 Argininosuccinate synthetase deficiency ICD10:E72.2 OMIM:215700 Classic citrullinemia Argininosuccinic acid synthetase deficiency prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19524 ASS deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525 Argininosuccinate synthase deficiency CTLN1 EXACT Argininosuccinate synthase deficiency EXACT Argininosuccinic acid synthetase deficiency EXACT Argininosuccinic acid synthase deficiency EXACT Argininosuccinate synthetase deficiency EXACT Classic citrullinemia EXACT ASS deficiency EXACT Citrullinemia type 1 EXACT CTLN1 Acute neonatal citrullinemia type I Acute neonatal citrullinemia type 1 Classic citrullinemia type 1 Classic citrullinemia type I Classic citrullinemia type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 Gene [OrphaNum:121468 ; Name:Argininosuccinate synthetase 1 ; Symbol:ASS1 ; xref: GENATLAS:ASS1 ; xref: HGNC:758 ; xref: OMIM:603470 ; xref: UNIPROTKB/SWISSPROT:P00966 ; xref: ENSEMBL:ENSG00000130707 ; xref: REACTOME:P00966] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E72.2 Acute neonatal citrullinemia type 1 Orphanet ID- 19525 Classic citrullinemia type I OMIM:215700 EXACT Classic citrullinemia type I EXACT Classic citrullinemia type 1 EXACT Acute neonatal citrullinemia type 1 Adult-onset citrullinemia type I Adult-onset citrullinemia type 1 Late-onset citrullinemia type 1 Late-onset citrullinemia type I ICD10:E72.2 Late-onset citrullinemia type I prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Adult-onset citrullinemia type 1 Orphanet ID- 19526 Late-onset citrullinemia type 1 Gene [OrphaNum:121468 ; Name:Argininosuccinate synthetase 1 ; Symbol:ASS1 ; xref: GENATLAS:ASS1 ; xref: HGNC:758 ; xref: OMIM:603470 ; xref: UNIPROTKB/SWISSPROT:P00966 ; xref: ENSEMBL:ENSG00000130707 ; xref: REACTOME:P00966] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 OMIM:215700 EXACT Late-onset citrullinemia type 1 EXACT Late-onset citrullinemia type I EXACT Adult-onset citrullinemia type 1 Citrin deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582 Orphanet ID- 19527 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Citrullinemia type II Adult-onset citrin deficiency Adult-onset citrullinemia type 2 CTLN2 Citrullinemia type 2 Citrullinemia type 2 Adult-onset citrullinemia type 2 Orphanet ID- 19528 Gene [OrphaNum:118786 ; Name:Solute carrier family 25, member 13 (citrin) ; Symbol:SLC25A13 ; xref: UNIPROTKB/SWISSPROT:Q9UJS0 ; xref: GENATLAS:SLC25A13 ; xref: HGNC:10983 ; xref: OMIM:603859 ; xref: ENSEMBL:ENSG00000004864 ; xref: REACTOME:Q9UJS0] OMIM:603471 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; CTLN2 Adult-onset citrin deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 ICD10:E72.2 EXACT Adult-onset citrin deficiency EXACT CTLN2 EXACT Citrullinemia type 2 EXACT Adult-onset citrullinemia type 2 Neonatal intrahepatic cholestasis due to citrin deficiency NICCD Neonatal intrahepatic cholestasis caused by citrin deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Neonatal intrahepatic cholestasis caused by citrin deficiency Orphanet ID- 19529 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 Gene [OrphaNum:118786 ; Name:Solute carrier family 25, member 13 (citrin) ; Symbol:SLC25A13 ; xref: UNIPROTKB/SWISSPROT:Q9UJS0 ; xref: GENATLAS:SLC25A13 ; xref: HGNC:10983 ; xref: OMIM:603859 ; xref: ENSEMBL:ENSG00000004864 ; xref: REACTOME:Q9UJS0] NICCD ICD10:E72.2 OMIM:605814 EXACT Neonatal intrahepatic cholestasis caused by citrin deficiency EXACT NICCD Fibrochondrogenesis OMIM:614524 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 OMIM:228520 Orphanet ID- 1953 ICD10:Q77.7 Gene [OrphaNum:120690 ; Name:Collagen, type XI, alpha 1 ; Symbol:COL11A1 ; xref: GENATLAS:COL11A1 ; xref: HGNC:2186 ; xref: OMIM:120280 ; xref: UNIPROTKB/SWISSPROT:P12107 ; xref: ENSEMBL:ENSG00000060718] Gene [OrphaNum:120693 ; Name:Collagen, type XI, alpha 2 ; Symbol:COL11A2 ; xref: GENATLAS:COL11A2 ; xref: HGNC:2187 ; xref: OMIM:120290 ; xref: UNIPROTKB/SWISSPROT:P13942 ; xref: ENSEMBL:ENSG00000204248] Juvenile primary lateral sclerosis Juvenile PLS Juvenile PLS Gene [OrphaNum:119644 ; Name:Amyotrophic lateral sclerosis 2 (juvenile) ; Symbol:ALS2 ; xref: ENSEMBL:ENSG00000003393 ; xref: GENATLAS:ALS2 ; xref: HGNC:443 ; xref: OMIM:606352 ; xref: UNIPROTKB/SWISSPROT:Q96Q42] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604 OMIM:606353 Orphanet ID- 19530 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Juvenile PLS Perinatal lethal hypophosphatasia Perinatal lethal Rathburn disease Perinatal lethal phosphoethanolaminuria prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119640 ; Name:Alkaline phosphatase, liver/bone/kidney ; Symbol:ALPL ; xref: GENATLAS:ALPL ; xref: HGNC:438 ; xref: OMIM:171760 ; xref: UNIPROTKB/SWISSPROT:P05186 ; xref: ENSEMBL:ENSG00000162551] Orphanet ID- 19531 Perinatal lethal Rathburn disease OMIM:241500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 Perinatal lethal phosphoethanolaminuria EXACT Perinatal lethal Rathburn disease EXACT Perinatal lethal phosphoethanolaminuria Prenatal benign hypophosphatasia Prenatal benign Rathburn disease Prenatal benign phosphoethanolaminuria Prenatal benign Rathburn disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 Orphanet ID- 19532 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Prenatal benign phosphoethanolaminuria Gene [OrphaNum:119640 ; Name:Alkaline phosphatase, liver/bone/kidney ; Symbol:ALPL ; xref: GENATLAS:ALPL ; xref: HGNC:438 ; xref: OMIM:171760 ; xref: UNIPROTKB/SWISSPROT:P05186 ; xref: ENSEMBL:ENSG00000162551] EXACT Prenatal benign Rathburn disease EXACT Prenatal benign phosphoethanolaminuria Infantile hypophosphatasia Infantile Rathburn disease Infantile phosphoethanolaminuria Infantile Rathburn disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 Gene [OrphaNum:119640 ; Name:Alkaline phosphatase, liver/bone/kidney ; Symbol:ALPL ; xref: GENATLAS:ALPL ; xref: HGNC:438 ; xref: OMIM:171760 ; xref: UNIPROTKB/SWISSPROT:P05186 ; xref: ENSEMBL:ENSG00000162551] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Infantile phosphoethanolaminuria Orphanet ID- 19533 OMIM:241500 EXACT Infantile phosphoethanolaminuria EXACT Infantile Rathburn disease Childhood-onset hypophosphatasia Childhood-onset Rathburn disease Childhood-onset phosphoethanolaminuria Childhood-onset phosphoethanolaminuria Orphanet ID- 19534 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 Gene [OrphaNum:119640 ; Name:Alkaline phosphatase, liver/bone/kidney ; Symbol:ALPL ; xref: GENATLAS:ALPL ; xref: HGNC:438 ; xref: OMIM:171760 ; xref: UNIPROTKB/SWISSPROT:P05186 ; xref: ENSEMBL:ENSG00000162551] Childhood-onset Rathburn disease OMIM:241510 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Childhood-onset Rathburn disease EXACT Childhood-onset phosphoethanolaminuria Adult hypophosphatasia Adult Rathburn disease Adult phosphoethanolaminuria Orphanet ID- 19535 OMIM:146300 Adult phosphoethanolaminuria Adult Rathburn disease Gene [OrphaNum:119640 ; Name:Alkaline phosphatase, liver/bone/kidney ; Symbol:ALPL ; xref: GENATLAS:ALPL ; xref: HGNC:438 ; xref: OMIM:171760 ; xref: UNIPROTKB/SWISSPROT:P05186 ; xref: ENSEMBL:ENSG00000162551] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Adult Rathburn disease EXACT Adult phosphoethanolaminuria Odontohypophosphatasia Gene [OrphaNum:119640 ; Name:Alkaline phosphatase, liver/bone/kidney ; Symbol:ALPL ; xref: GENATLAS:ALPL ; xref: HGNC:438 ; xref: OMIM:171760 ; xref: UNIPROTKB/SWISSPROT:P05186 ; xref: ENSEMBL:ENSG00000162551] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 19536 OMIM:146300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 Retinal vasculopathy and cerebral leukodystrophy Orphanet ID- 19537 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 Multiple endocrine neoplasia type 2A MEN2A PTC syndrome Sipple syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] PTC syndrome OMIM:171400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 MEN2A Sipple syndrome Orphanet ID- 19538 EXACT MEN2A EXACT PTC syndrome EXACT Sipple syndrome Multiple endocrine neoplasia type 2B MEN2B Multiple endocrine neoplasia type 3 Wagenmann-Froboese syndrome Wagenmann-Froboese syndrome Multiple endocrine neoplasia type 3 OMIM:162300 MEN2B prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 19539 Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 EXACT MEN2B EXACT Multiple endocrine neoplasia type 3 EXACT Wagenmann-Froboese syndrome Endomyocardial fibroelastosis OMIM:226000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2022 Gene [OrphaNum:183924 ; Name:Mitochondrially encoded tRNA leucine 2 (CUN) ; Symbol:MT-TL2 ; xref: GENATLAS:MT-TL2 ; xref: OMIM:590055 ; xref: HGNC:7491] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant; Inheritance- X-linked recessive; ICD10:I42.4 Orphanet ID- 1954 X-linked cerebellar ataxia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive; Orphanet ID- 19543 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247765 Atypical Mayer-Rokitansky-Küster-Hauser syndrome Atypical MRKH syndrome Atypical Rokitansky syndrome WNT4 deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; WNT4 deficiency OMIM:158330 Atypical MRKH syndrome Gene [OrphaNum:120540 ; Name:Wingless-type MMTV integration site family, member 4 ; Symbol:WNT4 ; xref: ENSEMBL:ENSG00000162552 ; xref: REACTOME:P56705 ; xref: GENATLAS:WNT4 ; xref: HGNC:12783 ; xref: OMIM:603490 ; xref: UNIPROTKB/SWISSPROT:P56705] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 Atypical Rokitansky syndrome Orphanet ID- 19544 EXACT WNT4 deficiency EXACT Atypical Rokitansky syndrome EXACT Atypical MRKH syndrome Classic Mayer-Rokitansky-Küster-Hauser syndrome Classic MRKH syndrome Classic Rokitansky syndrome MRKH synrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Rokitansky sequence Classic MRKH syndrome Classic Rokitansky syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 Orphanet ID- 19545 MRKH synrome type 1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:277000 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Rokitansky sequence EXACT Classic MRKH syndrome EXACT Classic Rokitansky syndrome EXACT Mayer-Rokitansky-Küster-Hauser syndrome type 1 EXACT MRKH synrome type 1 EXACT Rokitansky sequence FTH1-related iron overload FTH1-associated iron overload Gene [OrphaNum:159608 ; Name:Ferritin, heavy polypeptide 1 ; Symbol:FTH1 ; xref: GENATLAS:FTH1 ; xref: HGNC:3976 ; xref: OMIM:134770 ; xref: UNIPROTKB/SWISSPROT:P02794 ; xref: ENSEMBL:ENSG00000167996 ; xref: REACTOME:P02794] Orphanet ID- 19546 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal dominant; FTH1-associated iron overload OMIM:134770 EXACT FTH1-associated iron overload Juvenile cataract - microcornea - renal glucosuria prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 OMIM:612018 Orphanet ID- 19548 Gene [OrphaNum:140058 ; Name:Solute carrier family 16, member 12 (monocarboxylic acid transporter 12) ; Symbol:SLC16A12 ; xref: GENATLAS:SLC16A12 ; xref: OMIM:611910 ; xref: UNIPROTKB/SWISSPROT:Q6ZSM3 ; xref: HGNC:23094 ; xref: ENSEMBL:ENSG00000152779] MUTYH-related attenuated familial adenomatous polyposis MUTYH-related AFAP MUTYH-related attenuated FAP MUTYH-related attenuated familial polyposis coli prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19549 MUTYH-related attenuated FAP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 MUTYH-related AFAP MUTYH-related attenuated familial polyposis coli OMIM:608456 Gene [OrphaNum:123585 ; Name:MutY homolog (E. coli) ; Symbol:MUTYH ; xref: ENSEMBL:ENSG00000132781 ; xref: GENATLAS:MUTYH ; xref: HGNC:7527 ; xref: OMIM:604933 ; xref: UNIPROTKB/SWISSPROT:Q9UIF7 ; xref: REACTOME:Q9UIF7] EXACT MUTYH-related AFAP EXACT MUTYH-related attenuated familial polyposis coli EXACT MUTYH-related attenuated FAP Autosomal dominant gingival fibromatosis OMIM:611010 ICD10:K06.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 Orphanet ID- 1955 OMIM:605544 OMIM:609955 Gene [OrphaNum:119781 ; Name:Son of sevenless homolog 1 (Drosophila) ; Symbol:SOS1 ; xref: GENATLAS:SOS1 ; xref: HGNC:11187 ; xref: OMIM:182530 ; xref: UNIPROTKB/SWISSPROT:Q07889 ; xref: ENSEMBL:ENSG00000115904 ; xref: REACTOME:Q07889] OMIM:135300 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; APC-related attenuated familial adenomatous polyposis APC-related AFAP APC-related attenuated FAP APC-related attenuated familial polyposis coli OMIM:175100 Orphanet ID- 19550 APC-related attenuated familial polyposis coli prevalence- null; AgeOfOnset- null; AgeOfDeath-null; APC-related attenuated FAP APC-related AFAP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247806 Gene [OrphaNum:123393 ; Name:Adenomatosis polyposis coli gene ; Symbol:APC ; xref: GENATLAS:APC ; xref: HGNC:583 ; xref: UNIPROTKB/SWISSPROT:P25054 ; xref: OMIM:611731 ; xref: REACTOME:P25054 ; xref: ENSEMBL:ENSG00000134982] EXACT APC-related attenuated FAP EXACT APC-related attenuated familial polyposis coli EXACT APC-related AFAP Autosomal recessive ataxia due to PEX10 deficiency Mild peroxismal disorder due to PEX10 deficiency Gene [OrphaNum:124191 ; Name:Peroxisome biogenesis factor 10 ; Symbol:PEX10 ; xref: GENATLAS:PEX10 ; xref: HGNC:8851 ; xref: OMIM:602859 ; xref: UNIPROTKB/SWISSPROT:O60683 ; xref: ENSEMBL:ENSG00000157911] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19551 Mild peroxismal disorder due to PEX10 deficiency EXACT Mild peroxismal disorder due to PEX10 deficiency Ectodermal dysplasia - syndactyly syndrome EDSS EDSS1 Gene [OrphaNum:251683 ; Name:Poliovirus receptor-related 4 ; Symbol:PVRL4 ; xref: ENSEMBL:ENSG00000143217 ; xref: REACTOME:Q96NY8 ; xref: GENATLAS:PVRL4 ; xref: HGNC:19688 ; xref: OMIM:609607 ; xref: UNIPROTKB/SWISSPROT:Q96NY8] Orphanet ID- 19552 EDSS prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EDSS1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 OMIM:613573 EXACT EDSS EXACT EDSS1 Ectodermal dysplasia - cutaneous syndactyly syndrome EDCS EDSS2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19553 EDSS2 OMIM:613576 EDCS EXACT EDCS EXACT EDSS2 Occult macular dystrophy OMD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 OMIM:613587 Orphanet ID- 19554 OMD prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:251688 ; Name:Retinitis pigmentosa 1-like 1 ; Symbol:RP1L1 ; xref: ENSEMBL:ENSG00000183638 ; xref: GENATLAS:RP1L1 ; xref: HGNC:15946 ; xref: UNIPROTKB/SWISSPROT:Q8IWN7 ; xref: OMIM:608581] EXACT OMD NALP12-associated hereditary periodic fever syndrome FCAS2 Familial cold autoinflammatory syndrome 2 NAPS12 OMIM:611762 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:138361 ; Name:NLR family, pyrin domain containing 12 ; Symbol:NLRP12 ; xref: GENATLAS:NLRP12 ; xref: HGNC:22938 ; xref: OMIM:609648 ; xref: UNIPROTKB/SWISSPROT:P59046 ; xref: ENSEMBL:ENSG00000142405] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 FCAS2 Familial cold autoinflammatory syndrome 2 Orphanet ID- 19559 NAPS12 EXACT Familial cold autoinflammatory syndrome 2 EXACT NAPS12 EXACT FCAS2 Gingival fibromatosis - facial dysmorphism OMIM:228560 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025 Orphanet ID- 1956 Primary hypertrophic osteoarthropathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095 Orphanet ID- 19561 Juvenile Huntington disease Gene [OrphaNum:122387 ; Name:Huntingtin (Huntington disease) ; Symbol:HTT ; xref: GENATLAS:HTT ; xref: HGNC:4851 ; xref: OMIM:613004 ; xref: UNIPROTKB/SWISSPROT:P42858 ; xref: ENSEMBL:ENSG00000197386] OMIM:143100 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G10 Orphanet ID- 19562 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 Constitutional deficiency anemia Orphanet ID- 19565 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248296 Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248305 ICD10:D55.2 Orphanet ID- 19568 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gingival fibromatosis - hypertrichosis Hirsutism - congenital gingival hyperplasia OMIM:135400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 ICD10:Q87.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Hirsutism - congenital gingival hyperplasia Orphanet ID- 1957 EXACT Hirsutism - congenital gingival hyperplasia Isolated delta-storage pool disease Isolated delta-SPD Isolated dense-SPD Isolated dense-storage pool disease Isolated dense-SPD prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Isolated dense-storage pool disease Isolated delta-SPD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 ICD10:D69.1 Orphanet ID- 19572 EXACT Isolated delta-SPD EXACT Isolated dense-SPD EXACT Isolated dense-storage pool disease Rare thrombotic disorder due to a constitutional coagulation factors defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248361 Orphanet ID- 19575 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare thrombotic disorder due to a constitutional platelet anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19578 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248401 Gingival fibromatosis - progressive deafness Jones syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 OMIM:135550 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.8 Jones syndrome Orphanet ID- 1958 EXACT Jones syndrome Familial hypodysfibrinogenemia OMIM:202400 Orphanet ID- 19580 Gene [OrphaNum:121788 ; Name:Fibrinogen beta chain ; Symbol:FGB ; xref: GENATLAS:FGB ; xref: HGNC:3662 ; xref: OMIM:134830 ; xref: UNIPROTKB/SWISSPROT:P02675 ; xref: ENSEMBL:ENSG00000171564 ; xref: REACTOME:P02675] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 Gene [OrphaNum:121786 ; Name:Fibrinogen alpha chain ; Symbol:FGA ; xref: GENATLAS:FGA ; xref: HGNC:3661 ; xref: OMIM:134820 ; xref: UNIPROTKB/SWISSPROT:P02671 ; xref: ENSEMBL:ENSG00000171560 ; xref: REACTOME:P02671] ICD10:D68.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121821 ; Name:Fibrinogen gamma chain ; Symbol:FGG ; xref: GENATLAS:FGG ; xref: HGNC:3694 ; xref: OMIM:134850 ; xref: UNIPROTKB/SWISSPROT:P02679 ; xref: ENSEMBL:ENSG00000171557 ; xref: REACTOME:P02679] Genetic polycythemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250165 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19583 Juvenile hyaline fibromatosis Murray-Puretic-Drescher syndrome Puretic syndrome OMIM:228600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:M72.9 Orphanet ID- 1959 Puretic syndrome Gene [OrphaNum:121369 ; Name:Anthrax toxin receptor 2 ; Symbol:ANTXR2 ; xref: HGNC:21732 ; xref: OMIM:608041 ; xref: UNIPROTKB/SWISSPROT:P58335 ; xref: GENATLAS:ANTXR2 ; xref: ENSEMBL:ENSG00000163297] Murray-Puretic-Drescher syndrome EXACT Murray-Puretic-Drescher syndrome EXACT Puretic syndrome Isolated aniridia Orphanet ID- 19593 Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] ICD10:Q13.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:106210 Autosomal dominant optic atrophy and peripheral neuropathy Orphanet ID- 19594 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 Polymicrogyria with optic nerve hypoplasia Orphanet ID- 19595 Gene [OrphaNum:260889 ; Name:tubulin, alpha 8 ; Symbol:TUBA8 ; xref: ENSEMBL:ENSG00000183785 ; xref: OMIM:605742 ; xref: UNIPROTKB/SWISSPROT:Q9NY65 ; xref: HGNC:12410 ; xref: GENATLAS:TUBA8] OMIM:613180 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 AICA-ribosiduria 5-amino-4-imidazolecarboxamide ribosiduria ATIC deficiency Gene [OrphaNum:260894 ; Name:5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ; Symbol:ATIC ; xref: REACTOME:P31939 ; xref: HGNC:794 ; xref: OMIM:601731 ; xref: GENATLAS:ATIC ; xref: UNIPROTKB/SWISSPROT:P31939 ; xref: ENSEMBL:ENSG00000138363] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19596 5-amino-4-imidazolecarboxamide ribosiduria OMIM:608688 ICD10:E79.8 ATIC deficiency EXACT 5-amino-4-imidazolecarboxamide ribosiduria EXACT ATIC deficiency Autosomal recessive Stickler syndrome Stickler syndrome type 4 Gene [OrphaNum:120750 ; Name:Collagen, type IX, alpha 2 ; Symbol:COL9A2 ; xref: GENATLAS:COL9A2 ; xref: HGNC:2218 ; xref: OMIM:120260 ; xref: UNIPROTKB/SWISSPROT:Q14055 ; xref: ENSEMBL:ENSG00000049089 ; xref: REACTOME:Q14055] Gene [OrphaNum:120748 ; Name:Collagen, type IX, alpha 1 ; Symbol:COL9A1 ; xref: GENATLAS:COL9A1 ; xref: HGNC:2217 ; xref: OMIM:120210 ; xref: UNIPROTKB/SWISSPROT:P20849 ; xref: REACTOME:P20849 ; xref: ENSEMBL:ENSG00000112280] Orphanet ID- 19597 Stickler syndrome type 4 ICD10:Q87.5 OMIM:614134 OMIM:614284 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 ICD10:Q15.8 EXACT Stickler syndrome type 4 1q21.1 microdeletion syndrome Del(1)(q21) Monosomy 1q21.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Monosomy 1q21.1 OMIM:612474 ICD10:Q93.5 Del(1)(q21) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989 Orphanet ID- 19598 EXACT Monosomy 1q21.1 EXACT Del(1)(q21) 1q21.1 microduplication syndrome Dup(1)(q21.1) Trisomy 1q21.1 Orphanet ID- 19599 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994 OMIM:612475 Trisomy 1q21.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Dup(1)(q21.1) ICD10:Q92.3 EXACT Dup(1)(q21.1) EXACT Trisomy 1q21.1 Li-Fraumeni syndrome true Orphanet ID- 196 Gene [OrphaNum:120204 ; Name:Tumor protein p53 (Li-Fraumeni syndrome) ; Symbol:TP53 ; xref: ENSEMBL:ENSG00000141510 ; xref: REACTOME:P04637 ; xref: GENATLAS:TP53 ; xref: HGNC:11998 ; xref: OMIM:191170 ; xref: UNIPROTKB/SWISSPROT:P04637] OMIM:151623 ICD10:Z80 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 Gene [OrphaNum:119394 ; Name:CHK2 checkpoint homolog (S. pombe) ; Symbol:CHEK2 ; xref: OMIM:604373 ; xref: UNIPROTKB/SWISSPROT:O96017 ; xref: GENATLAS:CHEK2 ; xref: HGNC:16627 ; xref: REACTOME:O96017 ; xref: ENSEMBL:ENSG00000183765] prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:609265 OMIM:609266 Multiple non-ossifying fibromatosis Jaffe-Campanacci syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2029 Orphanet ID- 1960 Jaffe-Campanacci syndrome EXACT Jaffe-Campanacci syndrome 1q41q42 microdeletion syndrome 1q41-q42 microdeletion syndrome Del(1)(q41q42) Monosomy 1q41-q42 Monosomy 1q41q42 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Del(1)(q41q42) ICD10:Q93.5 Monosomy 1q41-q42 Monosomy 1q41q42 OMIM:612530 1q41-q42 microdeletion syndrome Orphanet ID- 19600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999 EXACT 1q41-q42 microdeletion syndrome EXACT Monosomy 1q41-q42 EXACT Del(1)(q41q42) EXACT Monosomy 1q41q42 Paternal uniparental disomy of chromosome 1 UPD(1)pat ICD10:Q99.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19601 UPD(1)pat Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004 EXACT UPD(1)pat Maternal uniparental disomy of chromosome 1 UPD(1)mat Orphanet ID- 19602 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009 UPD(1)mat prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q99.8 EXACT UPD(1)mat 2q31.1 microdeletion syndrome Del(2)(q31.1) Monosomy 2q31.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Del(2)(q31.1) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014 ICD10:Q93.5 Orphanet ID- 19603 Monosomy 2q31.1 EXACT Del(2)(q31.1) EXACT Monosomy 2q31.1 2q32q33 microdeletion syndrome 2q32-q33 microdeletion syndrome Del(2)(q32) Del(2)(q32q33) Monosomy 2q32 Monosomy 2q32-q33 Monosomy 2q32q33 Monosomy 2q32-q33 Del(2)(q32q33) 2q32-q33 microdeletion syndrome Monosomy 2q32 OMIM:612313 Del(2)(q32) Gene [OrphaNum:138514 ; Name:SATB homeobox 2 ; Symbol:SATB2 ; xref: GENATLAS:SATB2 ; xref: HGNC:21637 ; xref: OMIM:608148 ; xref: UNIPROTKB/SWISSPROT:Q9UPW6 ; xref: ENSEMBL:ENSG00000119042] Monosomy 2q32q33 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19604 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 EXACT Monosomy 2q32q33 EXACT Del(2)(q32q33) EXACT Monosomy 2q32-q33 EXACT Monosomy 2q32 EXACT Del(2)(q32) EXACT 2q32-q33 microdeletion syndrome 2q33.1 microdeletion syndrome Del(2)(q33.1) Monosomy 2q33.1 Monosomy 2q33.1 Orphanet ID- 19605 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 Gene [OrphaNum:138514 ; Name:SATB homeobox 2 ; Symbol:SATB2 ; xref: GENATLAS:SATB2 ; xref: HGNC:21637 ; xref: OMIM:608148 ; xref: UNIPROTKB/SWISSPROT:Q9UPW6 ; xref: ENSEMBL:ENSG00000119042] Del(2)(q33.1) prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Del(2)(q33.1) EXACT Monosomy 2q33.1 3q29 microduplication Trisomy 3q29 ICD10:Q92.3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038 Trisomy 3q29 Orphanet ID- 19607 OMIM:611936 EXACT Trisomy 3q29 Ring chromosome 5 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043 ICD10:Q93.2 Orphanet ID- 19608 6p22 microdeletion syndrome Del(6)(p22) Monosomy 6p22 Monosomy 6p22 Del(6)(p22) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046 ICD10:Q93.5 Orphanet ID- 19609 EXACT Del(6)(p22) EXACT Monosomy 6p22 6q25 microdeletion syndrome Del(6)(q25) Monosomy 6q25 Gene [OrphaNum:293095 ; Name:AT rich interactive domain 1B (SWI1-like) ; Symbol:ARID1B ; xref: HGNC:18040 ; xref: OMIM:614556 ; xref: GENATLAS:ARID1B ; xref: UNIPROTKB/SWISSPROT:Q8NFD5] Del(6)(q25) ICD10:Q93.5 Monosomy 6q25 Orphanet ID- 19611 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056 OMIM:612863 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Del(6)(q25) EXACT Monosomy 6q25 7q31 microdeletion syndrome Del(7)(q31) Monosomy 7q31 Del(7)(q31) Orphanet ID- 19612 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Monosomy 7q31 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061 ICD10:Q93.5 Gene [OrphaNum:212885 ; Name:Forkhead box P2 ; Symbol:FOXP2 ; xref: ENSEMBL:ENSG00000128573 ; xref: GENATLAS:FOXP2 ; xref: HGNC:13875 ; xref: OMIM:605317 ; xref: UNIPROTKB/SWISSPROT:O15409] EXACT Monosomy 7q31 EXACT Del(7)(q31) 8p11.2 deletion syndrome Del(8)(p11.2) Monosomy 8p11.2 Del(8)(p11.2) Gene [OrphaNum:121356 ; Name:Ankyrin 1, erythrocytic ; Symbol:ANK1 ; xref: GENATLAS:ANK1 ; xref: HGNC:492 ; xref: OMIM:612641 ; xref: UNIPROTKB/SWISSPROT:P16157 ; xref: ENSEMBL:ENSG00000029534 ; xref: REACTOME:P16157] Monosomy 8p11.2 ICD10:Q93.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066 Orphanet ID- 19613 EXACT Del(8)(p11.2) EXACT Monosomy 8p11.2 8p23.1 microdeletion syndrome Del(8)(p23.1) Monosomy 8p23.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 ICD10:Q93.5 Monosomy 8p23.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19614 Del(8)(p23.1) EXACT Monosomy 8p23.1 EXACT Del(8)(p23.1) 8p23.1 microduplication syndrome Dup(8)(p23.1) Trisomy 8p23.1 Trisomy 8p23.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Dup(8)(p23.1) ICD10:Q92.3 Orphanet ID- 19615 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076 EXACT Dup(8)(p23.1) EXACT Trisomy 8p23.1 Familial osteochondritis dissecans Osteochondritis dissecans and short stature Osteochondritis dissecans and short stature Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:165800 Gene [OrphaNum:117718 ; Name:Aggrecan ; Symbol:ACAN ; xref: GENATLAS:ACAN ; xref: HGNC:319 ; xref: OMIM:155760 ; xref: UNIPROTKB/SWISSPROT:P16112 ; xref: ENSEMBL:ENSG00000157766] Orphanet ID- 19616 EXACT Osteochondritis dissecans and short stature Familial hyperaldosteronism type 3 OMIM:613677 Orphanet ID- 19618 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 Gene [OrphaNum:235181 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 5 ; Symbol:KCNJ5 ; xref: IUPHAR:437 ; xref: ENSEMBL:ENSG00000120457 ; xref: REACTOME:P48544 ; xref: HGNC:6266 ; xref: GENATLAS:KCNJ5 ; xref: OMIM:600734 ; xref: UNIPROTKB/SWISSPROT:P48544] Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen Orphanet ID- 19619 Gene [OrphaNum:123212 ; Name:Membrane frizzled-related protein ; Symbol:MFRP ; xref: GENATLAS:MFRP ; xref: HGNC:18121 ; xref: OMIM:606227 ; xref: UNIPROTKB/SWISSPROT:Q9BY79 ; xref: ENSEMBL:ENSG00000259159] OMIM:611040 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 Scalp-ear-nipple syndrome Finlay-Markes syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 Finlay-Markes syndrome Orphanet ID- 1962 OMIM:181270 EXACT Finlay-Markes syndrome Autosomal dominant spastic ataxia ADSA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282 Orphanet ID- 19620 ADSA OMIM:108600 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT ADSA Benign concentric annular macular dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287 Orphanet ID- 19621 OMIM:153870 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Parietal foramina with cleidocranial dysplasia Parietal foramina with cleidocranial dysostosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:168550 Gene [OrphaNum:123500 ; Name:Msh homeobox 2 ; Symbol:MSX2 ; xref: GENATLAS:MSX2 ; xref: HGNC:7392 ; xref: OMIM:123101 ; xref: UNIPROTKB/SWISSPROT:P35548 ; xref: ENSEMBL:ENSG00000120149] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 Parietal foramina with cleidocranial dysostosis Orphanet ID- 19622 EXACT Parietal foramina with cleidocranial dysostosis Pigmented paravenous retinochoroidal atrophy PPRCA Gene [OrphaNum:120803 ; Name:Crumbs homolog 1 (Drosophila) ; Symbol:CRB1 ; xref: GENATLAS:CRB1 ; xref: HGNC:2343 ; xref: OMIM:604210 ; xref: UNIPROTKB/SWISSPROT:P82279 ; xref: ENSEMBL:ENSG00000134376] Orphanet ID- 19623 OMIM:172870 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295 PPRCA EXACT PPRCA Tracheo-esophageal fistula - hypospadias prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2042 Orphanet ID- 1963 Ataxia-telangiectasia-like disorder ATLD prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123483 ; Name:MRE11 meiotic recombination 11 homolog A (S. cerevisiae) ; Symbol:MRE11A ; xref: GENATLAS:MRE11A ; xref: HGNC:7230 ; xref: OMIM:600814 ; xref: UNIPROTKB/SWISSPROT:P49959 ; xref: ENSEMBL:ENSG00000020922 ; xref: REACTOME:P49959] Orphanet ID- 19631 OMIM:604391 ATLD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 EXACT ATLD Sickle cell disease associated with an other hemoglobin anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251355 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19632 Sickle cell - beta-thalassemia disease HbS - beta-thalassemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359 HbS - beta-thalassemia Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Orphanet ID- 19634 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D57.2 EXACT HbS - beta-thalassemia Sickle cell - hemoglobin C disease HbSC disease HbSC disease ICD10:D57.2 OMIM:603903 Orphanet ID- 19635 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT HbSC disease Sickle cell - hemoglobin D disease HbSD disease HbSD disease Orphanet ID- 19636 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 ICD10:D57.2 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] EXACT HbSD disease Sickle cell - hemoglobin E disease HbSE disease Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Orphanet ID- 19637 OMIM:603903 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D57.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 HbSE disease EXACT HbSE disease Hereditary persistence of fetal hemoglobin - sickle cell disease HPFH - sickle cell disease Orphanet ID- 19638 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 Gene [OrphaNum:233184 ; Name:Hemoglobin, gamma A ; Symbol:HBG1 ; xref: ENSEMBL:ENSG00000213934 ; xref: REACTOME:P69891 ; xref: HGNC:4831 ; xref: GENATLAS:HBG1 ; xref: UNIPROTKB/SWISSPROT:P69891 ; xref: OMIM:142200] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:240663 ; Name:Kruppel-like factor 1 (erythroid) ; Symbol:KLF1 ; xref: GENATLAS:KLF1 ; xref: HGNC:6345 ; xref: OMIM:600599 ; xref: UNIPROTKB/SWISSPROT:Q13351 ; xref: ENSEMBL:ENSG00000105610] HPFH - sickle cell disease Gene [OrphaNum:233186 ; Name:Hemoglobin, gamma G ; Symbol:HBG2 ; xref: ENSEMBL:ENSG00000196565 ; xref: REACTOME:P69892 ; xref: HGNC:4832 ; xref: GENATLAS:HBG2 ; xref: UNIPROTKB/SWISSPROT:P69892 ; xref: OMIM:142250] ICD10:D57.2 EXACT HPFH - sickle cell disease CK syndrome X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus Gene [OrphaNum:123942 ; Name:NAD(P) dependent steroid dehydrogenase-like ; Symbol:NSDHL ; xref: GENATLAS:NSDHL ; xref: HGNC:13398 ; xref: OMIM:300275 ; xref: UNIPROTKB/SWISSPROT:Q15738 ; xref: ENSEMBL:ENSG00000147383 ; xref: REACTOME:Q15738] Orphanet ID- 19639 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 OMIM:300831 X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus EXACT X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus Localized junctional epidermolysis bullosa, non-Herlitz type Orphanet ID- 19640 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 OMIM:226650 Gene [OrphaNum:120698 ; Name:Collagen, type XVII, alpha 1 ; Symbol:COL17A1 ; xref: GENATLAS:COL17A1 ; xref: HGNC:2194 ; xref: OMIM:113811 ; xref: UNIPROTKB/SWISSPROT:Q9UMD9 ; xref: ENSEMBL:ENSG00000065618 ; xref: REACTOME:Q9UMD9] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; 46,XY partial gonadal dysgenesis 46,XY PGD 46,XY partial testicular dysgenesis OMIM:612945 Orphanet ID- 19642 Gene [OrphaNum:168312 ; Name:Nuclear receptor subfamily 5, group A, member 1 ; Symbol:NR5A1 ; xref: GENATLAS:NR5A1 ; xref: HGNC:7983 ; xref: OMIM:184757 ; xref: UNIPROTKB/SWISSPROT:Q13285 ; xref: IUPHAR:632 ; xref: REACTOME:Q13285 ; xref: ENSEMBL:ENSG00000136931] Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] Gene [OrphaNum:120554 ; Name:WW domain containing oxidoreductase ; Symbol:WWOX ; xref: REACTOME:Q9NZC7 ; xref: UNIPROTKB/SWISSPROT:Q9NZC7 ; xref: GENATLAS:WWOX ; xref: HGNC:12799 ; xref: OMIM:605131 ; xref: ENSEMBL:ENSG00000186153] Gene [OrphaNum:123902 ; Name:Nuclear receptor subfamily 0, group B, member 1 ; Symbol:NR0B1 ; xref: GENATLAS:NR0B1 ; xref: HGNC:7960 ; xref: OMIM:300473 ; xref: UNIPROTKB/SWISSPROT:P51843 ; xref: IUPHAR:635 ; xref: ENSEMBL:ENSG00000169297 ; xref: REACTOME:P51843] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 46,XY PGD 46,XY partial testicular dysgenesis ICD10:Q97.3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; Gene [OrphaNum:119865 ; Name:Sex determining region Y ; Symbol:SRY ; xref: GENATLAS:SRY ; xref: HGNC:11311 ; xref: OMIM:480000 ; xref: UNIPROTKB/SWISSPROT:Q05066 ; xref: ENSEMBL:ENSG00000184895] Gene [OrphaNum:122035 ; Name:GATA binding protein 4 ; Symbol:GATA4 ; xref: GENATLAS:GATA4 ; xref: HGNC:4173 ; xref: OMIM:600576 ; xref: UNIPROTKB/SWISSPROT:P43694 ; xref: ENSEMBL:ENSG00000136574 ; xref: REACTOME:P43694] EXACT 46,XY partial testicular dysgenesis EXACT 46,XY PGD Distal arthrogryposis type 10 DA10 Plantar flexion contracture Short tendo calcaneus OMIM:187370 Plantar flexion contracture prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 19643 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515 DA10 Short tendo calcaneus EXACT Short tendo calcaneus EXACT DA10 EXACT Plantar flexion contracture Recurrent infections - inflammatory syndrome due to zinc metabolism disorder Hyperzincemia and hypercalprotectinemia Orphanet ID- 19644 ICD10:E83.2 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 Hyperzincemia and hypercalprotectinemia OMIM:194470 EXACT Hyperzincemia and hypercalprotectinemia Paraplegia - intellectual deficit - hyperkeratosis Fitzsimmons-McLachlan-Gilbert syndrome Orphanet ID- 1965 Fitzsimmons-McLachlan-Gilbert syndrome ICD10:G82.1 OMIM:309560 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- X-linked recessive; ICD10:F79.1 EXACT Fitzsimmons-McLachlan-Gilbert syndrome Floating-Harbor syndrome Leisti-Hollister-Rimoin syndrome ICD10:Q87.8 Gene [OrphaNum:292309 ; Name:Snf2-related CREBBP activator protein ; Symbol:SRCAP ; xref: HGNC:16974 ; xref: OMIM:611421 ; xref: GENATLAS:SRCAP ; xref: UNIPROTKB/SWISSPROT:Q6ZRS2] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:136140 Leisti-Hollister-Rimoin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 Orphanet ID- 1966 EXACT Leisti-Hollister-Rimoin syndrome FLOTCH syndrome Leukonychia totalis - trichilemmal cysts - ciliary dystrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:L60.8 Leukonychia totalis - trichilemmal cysts - ciliary dystrophy Orphanet ID- 1967 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045 ICD10:L72.1 EXACT Leukonychia totalis - trichilemmal cysts - ciliary dystrophy Flynn-Aird syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 Orphanet ID- 1968 ICD10:Q87.8 OMIM:136300 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Lesch-Nyhan syndrome HPRT complete deficiency HPRT deficiency grade IV Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV ICD10:E79.1 HPRT deficiency grade IV Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV HPRT complete deficiency Hypoxanthine guanine phosphoribosyltransferase complete deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:308950 Orphanet ID- 197 OMIM:300322 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 Gene [OrphaNum:122476 ; Name:Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) ; Symbol:HPRT1 ; xref: REACTOME:P00492 ; xref: HGNC:5157 ; xref: OMIM:308000 ; xref: UNIPROTKB/SWISSPROT:P00492 ; xref: GENATLAS:HPRT1 ; xref: ENSEMBL:ENSG00000165704] EXACT Hypoxanthine guanine phosphoribosyltransferase complete deficiency EXACT HPRT complete deficiency EXACT HPRT deficiency grade IV EXACT Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV Cole-Carpenter syndrome Bone fragility - craniosynostosis - proptosis - hydrocephalus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 Bone fragility - craniosynostosis - proptosis - hydrocephalus OMIM:112240 Orphanet ID- 1971 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; ICD10:Q78.0 EXACT Bone fragility - craniosynostosis - proptosis - hydrocephalus Growth deficiency - brachydactyly - dysmorphism Frias syndrome Frias syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2055 Orphanet ID- 1973 OMIM:609640 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Frias syndrome Constitutional mismatch repair deficiency syndrome CMMR-D syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 Orphanet ID- 19731 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; CMMR-D syndrome EXACT CMMR-D syndrome Autosomal recessive intermediate Charcot-Marie-Tooth disease type B RI-CMT type B Gene [OrphaNum:266184 ; Name:lysyl-tRNA synthetase ; Symbol:KARS ; xref: REACTOME:Q15046 ; xref: ENSEMBL:ENSG00000065427 ; xref: HGNC:6215 ; xref: OMIM:601421 ; xref: GENATLAS:KARS ; xref: UNIPROTKB/SWISSPROT:Q15046] OMIM:613641 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 RI-CMT type B Orphanet ID- 19736 EXACT RI-CMT type B Autosomal recessive spastic ataxia - optic atrophy - dysarthria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 Orphanet ID- 19738 OMIM:270500 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; 19p13.12 microdeletion syndrome Del(19)(p13.12) Monosomy 19p13.12 Del(19)(p13.12) Monosomy 19p13.12 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346 Orphanet ID- 19739 ICD10:Q93.5 EXACT Monosomy 19p13.12 EXACT Del(19)(p13.12) Fronto-facio-nasal dysostosis Frontofacionasal dysplasia Gollop syndrome Oculo-auriculo-fronto-nasal syndrome Frontofacionasal dysplasia ICD10:Q75.8 Orphanet ID- 1974 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 OMIM:229400 Oculo-auriculo-fronto-nasal syndrome Gollop syndrome OMIM:601452 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Frontofacionasal dysplasia EXACT Oculo-auriculo-fronto-nasal syndrome EXACT Gollop syndrome Distal 7q11.23 microdeletion syndrome Distal del(7)(q11.23) Distal monosomy 7q11.23 OMIM:613729 Distal del(7)(q11.23) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351 Orphanet ID- 19740 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Distal monosomy 7q11.23 ICD10:Q93.5 EXACT Distal del(7)(q11.23) EXACT Distal monosomy 7q11.23 Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency LGMD2Q Orphanet ID- 19742 Gene [OrphaNum:117877 ; Name:Plectin ; Symbol:PLEC ; xref: HGNC:9069 ; xref: GENATLAS:PLEC ; xref: OMIM:601282 ; xref: UNIPROTKB/SWISSPROT:Q15149 ; xref: REACTOME:Q15149 ; xref: ENSEMBL:ENSG00000178209] LGMD2Q prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G71.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 OMIM:613723 EXACT LGMD2Q Frontometaphyseal dysplasia Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 OMIM:305620 Orphanet ID- 1975 ICD10:Q78.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Motor developmental delay due to 14q32.2 paternally expressed gene defect prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 19756 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MCA due to 14q32.2 maternally expressed gene defect MCA due to 14q32.2 maternally expressed gene defect prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 Orphanet ID- 19757 EXACT MCA due to 14q32.2 maternally expressed gene defect Paternal 14q32.2 microdeletion syndrome Paternal del (14)(q32.2) Paternal monosomy 14q32.2 ICD10:Q93.5 Orphanet ID- 19758 Paternal monosomy 14q32.2 Paternal del (14)(q32.2) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Paternal monosomy 14q32.2 EXACT Paternal del (14)(q32.2) Maternal 14q32.2 microdeletion syndrome Maternal del(14)(q32.2) Maternal monosomy 14q32.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 19759 ICD10:Q93.5 Maternal del(14)(q32.2) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 Maternal monosomy 14q32.2 EXACT Maternal del(14)(q32.2) EXACT Maternal monosomy 14q32.2 Frontonasal dysplasia Median cleft syndrome ICD10:Q75.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; Median cleft syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250 OMIM:136760 Orphanet ID- 1976 Gene [OrphaNum:189330 ; Name:ALX homeobox 3 ; Symbol:ALX3 ; xref: ENSEMBL:ENSG00000156150 ; xref: GENATLAS:ALX3 ; xref: HGNC:449 ; xref: OMIM:606014 ; xref: UNIPROTKB/SWISSPROT:O95076] EXACT Median cleft syndrome Paternal 14q32.2 hypomethylation syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 19760 Maternal 14q32.2 hypermethylation syndrome Orphanet ID- 19761 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Epithelioid trophoblastic tumor prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254698 Orphanet ID- 19765 Genetic hyperferritinemia without iron overload prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704 Gene [OrphaNum:121953 ; Name:Ferritin, light polypeptide ; Symbol:FTL ; xref: GENATLAS:FTL ; xref: HGNC:3999 ; xref: OMIM:134790 ; xref: UNIPROTKB/SWISSPROT:P02792 ; xref: ENSEMBL:ENSG00000087086 ; xref: REACTOME:P02792] Orphanet ID- 19766 Faisalabad histiocytosis FHC FHC OMIM:602782 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:173057 ; Name:Solute carrier family 29 (nucleoside transporters), member 3 ; Symbol:SLC29A3 ; xref: GENATLAS:SLC29A3 ; xref: HGNC:23096 ; xref: OMIM:612373 ; xref: UNIPROTKB/SWISSPROT:Q9BZD2 ; xref: ENSEMBL:ENSG00000198246 ; xref: REACTOME:Q9BZD2] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254707 Orphanet ID- 19767 EXACT FHC Familial sinus histiocytosis with massive lymphadenopathy Familial Rosaï-Dorfman disease Familial SHML Familial Rosaï-Dorfman disease Gene [OrphaNum:173057 ; Name:Solute carrier family 29 (nucleoside transporters), member 3 ; Symbol:SLC29A3 ; xref: GENATLAS:SLC29A3 ; xref: HGNC:23096 ; xref: OMIM:612373 ; xref: UNIPROTKB/SWISSPROT:Q9BZD2 ; xref: ENSEMBL:ENSG00000198246 ; xref: REACTOME:Q9BZD2] Familial SHML Orphanet ID- 19768 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254712 EXACT Familial Rosaï-Dorfman disease EXACT Familial SHML Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome PHID Orphanet ID- 19769 Gene [OrphaNum:173057 ; Name:Solute carrier family 29 (nucleoside transporters), member 3 ; Symbol:SLC29A3 ; xref: GENATLAS:SLC29A3 ; xref: HGNC:23096 ; xref: OMIM:612373 ; xref: UNIPROTKB/SWISSPROT:Q9BZD2 ; xref: ENSEMBL:ENSG00000198246 ; xref: REACTOME:Q9BZD2] OMIM:602782 PHID prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254723 EXACT PHID Frontonasal dysplasia - Klippel-Feil syndrome Fragoso-Cid-Garcia-Hernandez syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Fragoso-Cid-Garcia-Hernandez syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1828 Orphanet ID- 1977 OMIM:118100 EXACT Fragoso-Cid-Garcia-Hernandez syndrome Pyruvate metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19770 Tricarboxylic acid cycle disorder Orphanet ID- 19771 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758 Orphanet ID- 19772 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19773 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Orphanet ID- 19774 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776 Maternally-inherited mitochondrial myopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788 Orphanet ID- 19775 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254793 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19776 Mitochondrial DNA depletion syndrome, encephalomyopathic form Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19777 Multiple mitochondrial DNA deletion syndrome Orphanet ID- 19778 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ataxia neuropathy spectrum prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818 Orphanet ID- 19779 Blepharophimosis - ptosis - esotropia - syndactyly - short stature Frydman-Cohen-Karmon syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 OMIM:210745 Orphanet ID- 1978 Frydman-Cohen-Karmon syndrome EXACT Frydman-Cohen-Karmon syndrome Mitochondrial oxidative phosphorylation disorder with no known mechanism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19780 Mitochondrial membrane transport disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827 Orphanet ID- 19781 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mitochondrial substrate carrier disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830 Orphanet ID- 19782 Mitochondrial protein import disorder Orphanet ID- 19783 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834 Unspecified mitochondrial disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19784 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837 Exercise intolerance with lactic acidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843 Orphanet ID- 19786 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Isolated oxidative phosphorylation complex disorder prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19787 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846 Maternally-inherited mitochondrial dystonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851 Orphanet ID- 19788 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Pure mitochondrial myopathy Orphanet ID- 19789 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Fryns syndrome Diaphragmatic hernia - abnormal face - distal limb anomalies Orphanet ID- 1979 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:229850 Diaphragmatic hernia - abnormal face - distal limb anomalies ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 EXACT Diaphragmatic hernia - abnormal face - distal limb anomalies Lethal infantile mitochondrial myopathy LIMD Lethal infantile mitochondrial disease OMIM:551000 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Mitochondrial inheritance; Orphanet ID- 19790 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 LIMD Lethal infantile mitochondrial disease EXACT Lethal infantile mitochondrial disease EXACT LIMD Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Benign COX deficiency Infantile reversible cytochrome c oxidase deficiency myopathy Mitochondrial myopathy with reversible COX deficiency Mitochondrial myopathy with reversible complex IV deficiency Reversible infantile cytochrome c oxidase deficiency Reversible infantile respiratory chain deficiency Mitochondrial myopathy with reversible complex IV deficiency Infantile reversible cytochrome c oxidase deficiency myopathy Reversible infantile cytochrome c oxidase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 Mitochondrial myopathy with reversible COX deficiency OMIM:500009 Reversible infantile respiratory chain deficiency prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Mitochondrial inheritance; Gene [OrphaNum:140514 ; Name:Mitochondrially encoded tRNA glutamic acid ; Symbol:MT-TE ; xref: GENATLAS:MT-TE ; xref: HGNC:7479 ; xref: OMIM:590025] Gene [OrphaNum:120293 ; Name:TRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ; Symbol:TRMU ; xref: UNIPROTKB/SWISSPROT:O75648 ; xref: GENATLAS:TRMU ; xref: HGNC:25481 ; xref: OMIM:610230 ; xref: ENSEMBL:ENSG00000100416] Orphanet ID- 19791 Benign COX deficiency EXACT Infantile reversible cytochrome c oxidase deficiency myopathy EXACT Mitochondrial myopathy with reversible COX deficiency EXACT Reversible infantile cytochrome c oxidase deficiency EXACT Mitochondrial myopathy with reversible complex IV deficiency EXACT Benign COX deficiency EXACT Reversible infantile respiratory chain deficiency Mitochondrial DNA depletion syndrome, hepatocerebral form mtDNA depletion syndrome, hepatocerebral form Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; mtDNA depletion syndrome, hepatocerebral form Orphanet ID- 19792 EXACT mtDNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, myopathic form mtDNA depletion syndrome, myopathic form Gene [OrphaNum:120120 ; Name:Thymidine kinase 2, mitochondrial ; Symbol:TK2 ; xref: GENATLAS:TK2 ; xref: HGNC:11831 ; xref: OMIM:188250 ; xref: UNIPROTKB/SWISSPROT:O00142 ; xref: ENSEMBL:ENSG00000166548 ; xref: REACTOME:O00142] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 mtDNA depletion syndrome, myopathic form prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609560 Orphanet ID- 19793 EXACT mtDNA depletion syndrome, myopathic form Spinocerebellar ataxia with epilepsy SCAE Orphanet ID- 19794 SCAE OMIM:607459 prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 EXACT SCAE Autosomal recessive progressive external ophthalmoplegia arPEO OMIM:258450 arPEO Gene [OrphaNum:120120 ; Name:Thymidine kinase 2, mitochondrial ; Symbol:TK2 ; xref: GENATLAS:TK2 ; xref: HGNC:11831 ; xref: OMIM:188250 ; xref: UNIPROTKB/SWISSPROT:O00142 ; xref: ENSEMBL:ENSG00000166548 ; xref: REACTOME:O00142] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521] Orphanet ID- 19795 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT arPEO Autosomal dominant progressive external ophthalmoplegia adPEO Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 OMIM:610131 Gene [OrphaNum:117927 ; Name:Polymerase (DNA directed), gamma 2, accessory subunit ; Symbol:POLG2 ; xref: GENATLAS:POLG2 ; xref: HGNC:9180 ; xref: OMIM:604983 ; xref: UNIPROTKB/SWISSPROT:Q9UHN1 ; xref: ENSEMBL:ENSG00000256525] adPEO OMIM:609283 Gene [OrphaNum:168101 ; Name:Ribonucleotide reductase M2 B (TP53 inducible) ; Symbol:RRM2B ; xref: OMIM:604712 ; xref: UNIPROTKB/SWISSPROT:Q9NTD8 ; xref: GENATLAS:RRM2B ; xref: HGNC:17296 ; xref: ENSEMBL:ENSG00000048392 ; xref: REACTOME:Q9NTD8] OMIM:157640 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:118807 ; Name:Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 ; Symbol:SLC25A4 ; xref: GENATLAS:SLC25A4 ; xref: HGNC:10990 ; xref: OMIM:103220 ; xref: UNIPROTKB/SWISSPROT:P12235 ; xref: ENSEMBL:ENSG00000151729 ; xref: REACTOME:P12235] Gene [OrphaNum:159897 ; Name:Chromosome 10 open reading frame 2 ; Symbol:C10ORF2 ; xref: ENSEMBL:ENSG00000107815 ; xref: GENATLAS:C10orf2 ; xref: HGNC:1160 ; xref: OMIM:606075 ; xref: UNIPROTKB/SWISSPROT:Q96RR1] Orphanet ID- 19796 Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521] OMIM:609286 OMIM:613077 EXACT adPEO Deafness - encephaloneuropathy - obesity - valvulopathy Hearing loss - encephaloneuropathy - obesity - valvulopathy Orphanet ID- 19797 OMIM:614651 Gene [OrphaNum:252458 ; Name:Prenyl (decaprenyl) diphosphate synthase, subunit 1 ; Symbol:PDSS1 ; xref: ENSEMBL:ENSG00000148459 ; xref: GENATLAS:PDSS1 ; xref: HGNC:17759 ; xref: OMIM:607429 ; xref: UNIPROTKB/SWISSPROT:Q5T2R2] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 Hearing loss - encephaloneuropathy - obesity - valvulopathy EXACT Hearing loss - encephaloneuropathy - obesity - valvulopathy Renal tubulopathy - encephalopathy - liver failure Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 OMIM:124000 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19798 Gene [OrphaNum:119021 ; Name:BCS1-like ; Symbol:BCS1L ; xref: GENATLAS:BCS1L ; xref: HGNC:1020 ; xref: OMIM:603647 ; xref: UNIPROTKB/SWISSPROT:Q9Y276 ; xref: ENSEMBL:ENSG00000074582 ; xref: REACTOME:Q9Y276] Isolated cytochrome C oxidase deficiency Isolated COX deficiency Isolated mitochondrial respiratory chain complex IV deficiency Gene [OrphaNum:123520 ; Name:Mitochondrially encoded cytochrome c oxidase III ; Symbol:MT-CO3 ; xref: GENATLAS:MT-CO3 ; xref: HGNC:7422 ; xref: OMIM:516050 ; xref: UNIPROTKB/SWISSPROT:P00414 ; xref: ENSEMBL:ENSG00000198938 ; xref: REACTOME:P00414] Gene [OrphaNum:123516 ; Name:Mitochondrially encoded cytochrome c oxidase II ; Symbol:MT-CO2 ; xref: GENATLAS:MT-CO2 ; xref: HGNC:7421 ; xref: OMIM:516040 ; xref: UNIPROTKB/SWISSPROT:P00403 ; xref: ENSEMBL:ENSG00000198712 ; xref: REACTOME:P00403] Orphanet ID- 19799 Isolated mitochondrial respiratory chain complex IV deficiency Gene [OrphaNum:168272 ; Name:FAST kinase domains 2 ; Symbol:FASTKD2 ; xref: GENATLAS:FASTKD2 ; xref: HGNC:29160 ; xref: OMIM:612322 ; xref: UNIPROTKB/SWISSPROT:Q9NYY8 ; xref: ENSEMBL:ENSG00000118246] Gene [OrphaNum:123512 ; Name:Mitochondrially encoded cytochrome c oxidase I ; Symbol:MT-CO1 ; xref: ENSEMBL:ENSG00000198804 ; xref: REACTOME:P00395 ; xref: GENATLAS:MT-CO1 ; xref: HGNC:7419 ; xref: OMIM:516030 ; xref: UNIPROTKB/SWISSPROT:P00395] Isolated COX deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 OMIM:220110 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:291843 ; Name:COX14 cytochrome c oxidase assembly homolog (S. cerevisiae) ; Symbol:COX14 ; xref: HGNC:28216 ; xref: OMIM:614478 ; xref: UNIPROTKB/SWISSPROT:Q96I36 ; xref: GENATLAS:C12orf62 ; xref: ENSEMBL:ENSG00000178449] Gene [OrphaNum:167892 ; Name:Cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) ; Symbol:COX6B1 ; xref: GENATLAS:COX6B1 ; xref: HGNC:2280 ; xref: OMIM:124089 ; xref: UNIPROTKB/SWISSPROT:P14854 ; xref: ENSEMBL:ENSG00000126267 ; xref: REACTOME:P14854] Gene [OrphaNum:267102 ; Name:cytochrome C oxidase assembly factor 5 ; Symbol:COA5 ; xref: UNIPROTKB/SWISSPROT:Q86WW8 ; xref: ENSEMBL:ENSG00000183513 ; xref: HGNC:33848 ; xref: OMIM:613920] EXACT Isolated COX deficiency EXACT Isolated mitochondrial respiratory chain complex IV deficiency Isolated ATP synthase deficiency Isolated mitochondrial respiratory chain complex V deficiency Gene [OrphaNum:267365 ; Name:ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit ; Symbol:ATP5E ; xref: REACTOME:P56381 ; xref: ENSEMBL:ENSG00000124172 ; xref: HGNC:838 ; xref: OMIM:606153 ; xref: GENATLAS:ATP5E ; xref: UNIPROTKB/SWISSPROT:P56381] OMIM:614052 Gene [OrphaNum:169415 ; Name:Transmembrane protein 70 ; Symbol:TMEM70 ; xref: GENATLAS:TMEM70 ; xref: HGNC:26050 ; xref: OMIM:612418 ; xref: UNIPROTKB/SWISSPROT:Q9BUB7 ; xref: ENSEMBL:ENSG00000175606] Isolated mitochondrial respiratory chain complex V deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614053 Gene [OrphaNum:118892 ; Name:ATP synthase mitochondrial F1 complex assembly factor 2 ; Symbol:ATPAF2 ; xref: GENATLAS:ATPAF2 ; xref: HGNC:18802 ; xref: OMIM:608918 ; xref: UNIPROTKB/SWISSPROT:Q8N5M1 ; xref: ENSEMBL:ENSG00000171953] Orphanet ID- 19800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 OMIM:604273 EXACT Isolated mitochondrial respiratory chain complex V deficiency Combined oxidative phosphorylation defect type 2 COXPD2 Gene [OrphaNum:267232 ; Name:mitochondrial ribosomal protein S16 ; Symbol:MRPS16 ; xref: GENATLAS:MRPS16 ; xref: ENSEMBL:ENSG00000182180 ; xref: OMIM:609204 ; xref: UNIPROTKB/SWISSPROT:Q9Y3D3 ; xref: HGNC:14048] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19801 OMIM:610498 COXPD2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 EXACT COXPD2 Combined oxidative phosphorylation defect type 4 COXPD4 COXPD4 OMIM:610678 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:267235 ; Name:Tu translation elongation factor, mitochondrial ; Symbol:TUFM ; xref: ENSEMBL:ENSG00000178952 ; xref: HGNC:12420 ; xref: OMIM:602389 ; xref: GENATLAS:TUFM ; xref: UNIPROTKB/SWISSPROT:P49411] Orphanet ID- 19802 EXACT COXPD4 Combined oxidative phosphorylation defect type 7 COXPD7 COXPD7 Gene [OrphaNum:242929 ; Name:Chromosome 12 open reading frame 65 ; Symbol:C12ORF65 ; xref: ENSEMBL:ENSG00000130921 ; xref: GENATLAS:C12orf65 ; xref: HGNC:26784 ; xref: UNIPROTKB/SWISSPROT:Q9H3J6 ; xref: OMIM:613541] prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 19803 OMIM:613559 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 EXACT COXPD7 Autosomal dominant optic atrophy and late-onset deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255117 Orphanet ID- 19804 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal recessive pyridoxine-refractory sideroblastic anemia Gene [OrphaNum:200717 ; Name:Solute carrier family 25, member 38 ; Symbol:SLC25A38 ; xref: UNIPROTKB/SWISSPROT:Q96DW6 ; xref: ENSEMBL:ENSG00000144659 ; xref: GENATLAS:SLC25A38 ; xref: OMIM:610819 ; xref: HGNC:26054] OMIM:205950 Orphanet ID- 19805 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 Gene [OrphaNum:169900 ; Name:Glutaredoxin 5 ; Symbol:GLRX5 ; xref: GENATLAS:GLRX5 ; xref: HGNC:20134 ; xref: OMIM:609588 ; xref: UNIPROTKB/SWISSPROT:Q86SX6 ; xref: ENSEMBL:ENSG00000182512] prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Pyruvate dehydrogenase E1-beta deficiency PDHBD Pyruvate dehydrogenase complex E1 component subunit beta deficiency ICD10:E74.4 Orphanet ID- 19806 PDHBD Pyruvate dehydrogenase complex E1 component subunit beta deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Gene [OrphaNum:124164 ; Name:Pyruvate dehydrogenase (lipoamide) beta ; Symbol:PDHB ; xref: GENATLAS:PDHB ; xref: HGNC:8808 ; xref: OMIM:179060 ; xref: UNIPROTKB/SWISSPROT:P11177 ; xref: REACTOME:P11177 ; xref: ENSEMBL:ENSG00000168291] OMIM:614111 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 EXACT PDHBD EXACT Pyruvate dehydrogenase complex E1 component subunit beta deficiency Pyruvate dehydrogenase E3-binding protein deficiency 2-oxo-glutarate complex deficiency Branched chain keto acid dehydrogenase complex deficiency Diaphorase deficiency Dihydrolipoyl dehydrogenasee deficiency Glycine cleavage system L protein deficiency Lipoamide dehydrogenase deficiency Pyruvate dehydrogenase complex component E3 deficiency Pyruvate dehydrogenase protein X component deficiency Pyruvate dehydrogenase complex component E3 deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Diaphorase deficiency Orphanet ID- 19807 Gene [OrphaNum:124166 ; Name:Pyruvate dehydrogenase complex, component X ; Symbol:PDHX ; xref: GENATLAS:PDHX ; xref: HGNC:21350 ; xref: OMIM:608769 ; xref: UNIPROTKB/SWISSPROT:O00330 ; xref: ENSEMBL:ENSG00000110435 ; xref: REACTOME:O00330] Dihydrolipoyl dehydrogenasee deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 2-oxo-glutarate complex deficiency Glycine cleavage system L protein deficiency Lipoamide dehydrogenase deficiency ICD10:E74.4 Branched chain keto acid dehydrogenase complex deficiency OMIM:245349 Pyruvate dehydrogenase protein X component deficiency EXACT Pyruvate dehydrogenase protein X component deficiency EXACT Dihydrolipoyl dehydrogenasee deficiency EXACT Lipoamide dehydrogenase deficiency EXACT Branched chain keto acid dehydrogenase complex deficiency EXACT Pyruvate dehydrogenase complex component E3 deficiency EXACT Glycine cleavage system L protein deficiency EXACT 2-oxo-glutarate complex deficiency EXACT Diaphorase deficiency Sporadic Leigh syndrome Sporadic Leigh disease Sporadic infantile subacute necrotizing encephalopathy Gene [OrphaNum:123547 ; Name:Mitochondrially encoded NADH dehydrogenase 3 ; Symbol:MT-ND3 ; xref: ENSEMBL:ENSG00000198840 ; xref: GENATLAS:MT-ND3 ; xref: HGNC:7458 ; xref: OMIM:516002 ; xref: UNIPROTKB/SWISSPROT:P03897 ; xref: REACTOME:P03897] Gene [OrphaNum:123562 ; Name:Mitochondrially encoded NADH dehydrogenase 5 ; Symbol:MT-ND5 ; xref: GENATLAS:MT-ND5 ; xref: HGNC:7461 ; xref: OMIM:516005 ; xref: UNIPROTKB/SWISSPROT:P03915 ; xref: ENSEMBL:ENSG00000198786 ; xref: REACTOME:P03915] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255199 Gene [OrphaNum:123567 ; Name:Mitochondrially encoded NADH dehydrogenase 6 ; Symbol:MT-ND6 ; xref: GENATLAS:MT-ND6 ; xref: HGNC:7462 ; xref: OMIM:516006 ; xref: UNIPROTKB/SWISSPROT:P03923 ; xref: ENSEMBL:ENSG00000198695 ; xref: REACTOME:P03923] Sporadic infantile subacute necrotizing encephalopathy Orphanet ID- 19808 Sporadic Leigh disease OMIM:256000 EXACT Sporadic Leigh disease EXACT Sporadic infantile subacute necrotizing encephalopathy Maternally-inherited Leigh syndrome MILS Maternally-inherited Leigh disease Maternally-inherited infantile subacute necrotizing encephalopathy Maternally-inherited infantile subacute necrotizing encephalopathy Gene [OrphaNum:160307 ; Name:Mitochondrially encoded tRNA tryptophan ; Symbol:MT-TW ; xref: GENATLAS:MT-TW ; xref: HGNC:7501 ; xref: OMIM:590095] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 Gene [OrphaNum:138895 ; Name:Mitochondrially encoded tRNA leucine 1 (UUA/G) ; Symbol:MT-TL1 ; xref: GENATLAS:MT-TL1 ; xref: HGNC:7490 ; xref: OMIM:590050] Gene [OrphaNum:123537 ; Name:Mitochondrially encoded NADH dehydrogenase 1 ; Symbol:MT-ND1 ; xref: ENSEMBL:ENSG00000198888 ; xref: REACTOME:P03886 ; xref: GENATLAS:MT-ND1 ; xref: HGNC:7455 ; xref: OMIM:516000 ; xref: UNIPROTKB/SWISSPROT:P03886] MILS Gene [OrphaNum:267449 ; Name:mitochondrially encoded tRNA valine ; Symbol:MT-TV ; xref: GENATLAS:MT-TV ; xref: HGNC:7500 ; xref: OMIM:590105] Gene [OrphaNum:123552 ; Name:Mitochondrially encoded NADH dehydrogenase 4 ; Symbol:MT-ND4 ; xref: ENSEMBL:ENSG00000198886 ; xref: GENATLAS:MT-ND4 ; xref: HGNC:7459 ; xref: OMIM:516003 ; xref: UNIPROTKB/SWISSPROT:P03905 ; xref: REACTOME:P03905] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Gene [OrphaNum:123547 ; Name:Mitochondrially encoded NADH dehydrogenase 3 ; Symbol:MT-ND3 ; xref: ENSEMBL:ENSG00000198840 ; xref: GENATLAS:MT-ND3 ; xref: HGNC:7458 ; xref: OMIM:516002 ; xref: UNIPROTKB/SWISSPROT:P03897 ; xref: REACTOME:P03897] Gene [OrphaNum:123516 ; Name:Mitochondrially encoded cytochrome c oxidase II ; Symbol:MT-CO2 ; xref: GENATLAS:MT-CO2 ; xref: HGNC:7421 ; xref: OMIM:516040 ; xref: UNIPROTKB/SWISSPROT:P00403 ; xref: ENSEMBL:ENSG00000198712 ; xref: REACTOME:P00403] Gene [OrphaNum:123567 ; Name:Mitochondrially encoded NADH dehydrogenase 6 ; Symbol:MT-ND6 ; xref: GENATLAS:MT-ND6 ; xref: HGNC:7462 ; xref: OMIM:516006 ; xref: UNIPROTKB/SWISSPROT:P03923 ; xref: ENSEMBL:ENSG00000198695 ; xref: REACTOME:P03923] Gene [OrphaNum:123562 ; Name:Mitochondrially encoded NADH dehydrogenase 5 ; Symbol:MT-ND5 ; xref: GENATLAS:MT-ND5 ; xref: HGNC:7461 ; xref: OMIM:516005 ; xref: UNIPROTKB/SWISSPROT:P03915 ; xref: ENSEMBL:ENSG00000198786 ; xref: REACTOME:P03915] OMIM:161700 Gene [OrphaNum:123508 ; Name:Mitochondrially encoded ATP synthase 6 ; Symbol:MT-ATP6 ; xref: GENATLAS:MT-ATP6 ; xref: HGNC:7414 ; xref: OMIM:516060 ; xref: UNIPROTKB/SWISSPROT:P00846 ; xref: ENSEMBL:ENSG00000198899 ; xref: REACTOME:P00846] Maternally-inherited Leigh disease Gene [OrphaNum:123512 ; Name:Mitochondrially encoded cytochrome c oxidase I ; Symbol:MT-CO1 ; xref: ENSEMBL:ENSG00000198804 ; xref: REACTOME:P00395 ; xref: GENATLAS:MT-CO1 ; xref: HGNC:7419 ; xref: OMIM:516030 ; xref: UNIPROTKB/SWISSPROT:P00395] Gene [OrphaNum:123542 ; Name:Mitochondrially encoded NADH dehydrogenase 2 ; Symbol:MT-ND2 ; xref: ENSEMBL:ENSG00000198763 ; xref: GENATLAS:MT-ND2 ; xref: HGNC:7456 ; xref: OMIM:516001 ; xref: UNIPROTKB/SWISSPROT:P03891 ; xref: REACTOME:P03891] OMIM:256000 Gene [OrphaNum:123520 ; Name:Mitochondrially encoded cytochrome c oxidase III ; Symbol:MT-CO3 ; xref: GENATLAS:MT-CO3 ; xref: HGNC:7422 ; xref: OMIM:516050 ; xref: UNIPROTKB/SWISSPROT:P00414 ; xref: ENSEMBL:ENSG00000198938 ; xref: REACTOME:P00414] Orphanet ID- 19809 Gene [OrphaNum:138900 ; Name:Mitochondrially encoded tRNA lysine ; Symbol:MT-TK ; xref: GENATLAS:MT-TK ; xref: HGNC:7489 ; xref: OMIM:590060] EXACT Maternally-inherited infantile subacute necrotizing encephalopathy EXACT MILS EXACT Maternally-inherited Leigh disease Fuqua-Berkovitz syndrome Ambiguous genitalia - normal Mullerian development Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2061 Orphanet ID- 1981 Ambiguous genitalia - normal Mullerian development prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Unknown; EXACT Ambiguous genitalia - normal Mullerian development Maternally-inherited mitochondrial dilated cardiomyopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255222 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Orphanet ID- 19810 Maternally-inherited mitochondrial hypertrophic cardiomyopathy prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Gene [OrphaNum:188805 ; Name:Mitochondrially encoded tRNA glycine ; Symbol:MT-TG ; xref: HGNC:7486 ; xref: OMIM:590035 ; xref: GENATLAS:MT-TG] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255225 OMIM:192600 Orphanet ID- 19811 Gene [OrphaNum:160303 ; Name:Mitochondrially encoded tRNA isoleucine ; Symbol:MT-TI ; xref: GENATLAS:MT-TI ; xref: HGNC:7488 ; xref: OMIM:590045] Navajo neurohepatopathy Navajo neuropathy OMIM:256810 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 Gene [OrphaNum:123470 ; Name:MpV17 mitochondrial inner membrane protein ; Symbol:MPV17 ; xref: GENATLAS:MPV17 ; xref: HGNC:7224 ; xref: OMIM:137960 ; xref: UNIPROTKB/SWISSPROT:P39210 ; xref: ENSEMBL:ENSG00000115204] Orphanet ID- 19812 Navajo neuropathy prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Navajo neuropathy Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 Gene [OrphaNum:168101 ; Name:Ribonucleotide reductase M2 B (TP53 inducible) ; Symbol:RRM2B ; xref: OMIM:604712 ; xref: UNIPROTKB/SWISSPROT:Q9NTD8 ; xref: GENATLAS:RRM2B ; xref: HGNC:17296 ; xref: ENSEMBL:ENSG00000048392 ; xref: REACTOME:Q9NTD8] mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy Orphanet ID- 19813 OMIM:612075 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy Leigh syndrome with leukodystrophy Infantile subacute necrotizing encephalopathy with leukodystrophy Leigh disease with leukodystrophy Leigh disease with leukodystrophy OMIM:256000 Gene [OrphaNum:252455 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa ; Symbol:NDUFA2 ; xref: UNIPROTKB/SWISSPROT:O43678 ; xref: OMIM:602137 ; xref: REACTOME:O43678 ; xref: ENSEMBL:ENSG00000131495 ; xref: GENATLAS:NDUFA2 ; xref: HGNC:7685] Gene [OrphaNum:123743 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS8 ; xref: ENSEMBL:ENSG00000110717 ; xref: GENATLAS:NDUFS8 ; xref: HGNC:7715 ; xref: OMIM:602141 ; xref: UNIPROTKB/SWISSPROT:O00217 ; xref: REACTOME:O00217] Gene [OrphaNum:265457 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa ; Symbol:NDUFA10 ; xref: OMIM:603835 ; xref: HGNC:7684 ; xref: REACTOME:O95299 ; xref: ENSEMBL:ENSG00000130414 ; xref: GENATLAS:NDUFA10 ; xref: UNIPROTKB/SWISSPROT:O95299] Orphanet ID- 19814 Gene [OrphaNum:120774 ; Name:COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) ; Symbol:COX10 ; xref: GENATLAS:COX10 ; xref: HGNC:2260 ; xref: OMIM:602125 ; xref: UNIPROTKB/SWISSPROT:Q12887 ; xref: ENSEMBL:ENSG00000006695] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:169399 ; Name:Chromosome 8 open reading frame 38 ; Symbol:C8ORF38 ; xref: GENATLAS:C8ORF38 ; xref: HGNC:28625 ; xref: OMIM:612392 ; xref: UNIPROTKB/SWISSPROT:Q330K2 ; xref: ENSEMBL:ENSG00000156170] ICD10:G31.8 Gene [OrphaNum:123738 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS7 ; xref: GENATLAS:NDUFS7 ; xref: HGNC:7714 ; xref: OMIM:601825 ; xref: UNIPROTKB/SWISSPROT:O75251 ; xref: REACTOME:O75251 ; xref: ENSEMBL:ENSG00000115286] Gene [OrphaNum:123727 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS1 ; xref: GENATLAS:NDUFS1 ; xref: HGNC:7707 ; xref: OMIM:157655 ; xref: UNIPROTKB/SWISSPROT:P28331 ; xref: REACTOME:P28331 ; xref: ENSEMBL:ENSG00000023228] Infantile subacute necrotizing encephalopathy with leukodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255241 Gene [OrphaNum:123745 ; Name:NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa ; Symbol:NDUFV1 ; xref: GENATLAS:NDUFV1 ; xref: HGNC:7716 ; xref: OMIM:161015 ; xref: UNIPROTKB/SWISSPROT:P49821 ; xref: ENSEMBL:ENSG00000167792 ; xref: REACTOME:P49821] Gene [OrphaNum:123733 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS4 ; xref: GENATLAS:NDUFS4 ; xref: HGNC:7711 ; xref: OMIM:602694 ; xref: UNIPROTKB/SWISSPROT:O43181 ; xref: REACTOME:O43181 ; xref: ENSEMBL:ENSG00000164258] Gene [OrphaNum:123731 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS3 ; xref: GENATLAS:NDUFS3 ; xref: HGNC:7710 ; xref: OMIM:603846 ; xref: UNIPROTKB/SWISSPROT:O75489 ; xref: ENSEMBL:ENSG00000213619 ; xref: REACTOME:O75489] Gene [OrphaNum:119904 ; Name:Surfeit 1 ; Symbol:SURF1 ; xref: GENATLAS:SURF1 ; xref: HGNC:11474 ; xref: OMIM:185620 ; xref: UNIPROTKB/SWISSPROT:Q15526 ; xref: ENSEMBL:ENSG00000148290] Gene [OrphaNum:118549 ; Name:Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ; Symbol:SDHA ; xref: OMIM:600857 ; xref: UNIPROTKB/SWISSPROT:P31040 ; xref: GENATLAS:SDHA ; xref: HGNC:10680 ; xref: ENSEMBL:ENSG00000073578 ; xref: REACTOME:P31040] EXACT Infantile subacute necrotizing encephalopathy with leukodystrophy EXACT Leigh disease with leukodystrophy Leigh syndrome with nephrotic syndrome Infantile subacute necrotizing encephalopathy with nephrotic syndrome Leigh disease with nephrotic syndrome Gene [OrphaNum:121102 ; Name:Dihydrolipoamide dehydrogenase ; Symbol:DLD ; xref: GENATLAS:DLD ; xref: HGNC:2898 ; xref: OMIM:238331 ; xref: UNIPROTKB/SWISSPROT:P09622 ; xref: ENSEMBL:ENSG00000091140 ; xref: REACTOME:P09622] Orphanet ID- 19815 Gene [OrphaNum:120770 ; Name:Coenzyme Q2 homolog, prenyltransferase (yeast) ; Symbol:COQ2 ; xref: GENATLAS:COQ2 ; xref: HGNC:25223 ; xref: OMIM:609825 ; xref: UNIPROTKB/SWISSPROT:Q96H96 ; xref: ENSEMBL:ENSG00000173085 ; xref: REACTOME:Q96H96] ICD10:G31.8 Infantile subacute necrotizing encephalopathy with nephrotic syndrome Gene [OrphaNum:205928 ; Name:Prenyl (decaprenyl) diphosphate synthase, subunit 2 ; Symbol:PDSS2 ; xref: ENSEMBL:ENSG00000164494 ; xref: GENATLAS:PDSS2 ; xref: HGNC:23041 ; xref: OMIM:610564 ; xref: UNIPROTKB/SWISSPROT:Q86YH6] OMIM:256000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255249 Leigh disease with nephrotic syndrome OMIM:607426 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119021 ; Name:BCS1-like ; Symbol:BCS1L ; xref: GENATLAS:BCS1L ; xref: HGNC:1020 ; xref: OMIM:603647 ; xref: UNIPROTKB/SWISSPROT:Q9Y276 ; xref: ENSEMBL:ENSG00000074582 ; xref: REACTOME:Q9Y276] EXACT Leigh disease with nephrotic syndrome EXACT Infantile subacute necrotizing encephalopathy with nephrotic syndrome Splenogonadal fusion - limb defects - micrognathia OMIM:183300 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1982 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 Posterior fusion of lumbosacral vertebrae - blepharoptosis Faulk-Epstein-Jones syndrome OMIM:192800 Orphanet ID- 1983 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064 Faulk-Epstein-Jones syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Faulk-Epstein-Jones syndrome Autosomal recessive congenital sideroblastic anemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19831 Galloway-Mowat syndrome Galloway syndrome Microcephaly - hiatus hernia - nephrotic syndrome Nephrosis - neuronal dysmigration syndrome ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Microcephaly - hiatus hernia - nephrotic syndrome Orphanet ID- 1984 OMIM:251300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 Nephrosis - neuronal dysmigration syndrome Galloway syndrome EXACT Microcephaly - hiatus hernia - nephrotic syndrome EXACT Nephrosis - neuronal dysmigration syndrome EXACT Galloway syndrome Distal 7q11.23 microduplication syndrome Distal dup(7)(q11.23) Distal trisomy 7q11.23 Distal dup(7)(q11.23) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102 ICD10:Q92.3 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19849 Distal trisomy 7q11.23 EXACT Distal trisomy 7q11.23 EXACT Distal dup(7)(q11.23) GAPO syndrome Growth delay - alopecia - pseudoanodontia - optic atrophy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 Growth delay - alopecia - pseudoanodontia - optic atrophy ICD10:Q87.8 OMIM:230740 Orphanet ID- 1985 EXACT Growth delay - alopecia - pseudoanodontia - optic atrophy Monosomy 9p 9p deletion syndrome 9p- syndrome Alfi syndrome Alfi syndrome OMIM:158170 9p deletion syndrome 9p- syndrome Orphanet ID- 19850 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112 ICD10:Q93.5 EXACT Alfi syndrome EXACT 9p- syndrome EXACT 9p deletion syndrome 14q11.2 microdeletion syndrome Del(14)(q11.2) Monosomy 14q11.2 Del(14)(q11.2) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Monosomy 14q11.2 OMIM:613457 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120 ICD10:Q93.5 Orphanet ID- 19851 EXACT Del(14)(q11.2) EXACT Monosomy 14q11.2 14q12 microdeletion syndrome Del(14)(q12) Monosomy 14q12 ICD10:Q93.5 Gene [OrphaNum:167854 ; Name:Forkhead box G1 ; Symbol:FOXG1 ; xref: GENATLAS:FOXG1 ; xref: HGNC:3811 ; xref: OMIM:164874 ; xref: UNIPROTKB/SWISSPROT:P55316 ; xref: ENSEMBL:ENSG00000176165] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Del(14)(q12) Orphanet ID- 19853 Monosomy 14q12 EXACT Monosomy 14q12 EXACT Del(14)(q12) 15q11.2 microdeletion syndrome Del(15)(q11.2) Monosomy 15q11.2 Del(15)(q11.2) ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183 Monosomy 15q11.2 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19855 EXACT Del(15)(q11.2) EXACT Monosomy 15q11.2 15q14 microdeletion syndrome Del(15)(q14) Monosomy 15q14 Del(15)(q14) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19856 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 Monosomy 15q14 EXACT Monosomy 15q14 EXACT Del(15)(q14) 16p11.2 microdeletion syndrome Del(16)(p11.2) Monosomy 16p11.2 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197 prevalence- 1-5 / 10 000; AgeOfOnset- null; AgeOfDeath-null; Monosomy 16p11.2 Gene [OrphaNum:293315 ; Name:SH2B adaptor protein 1 ; Symbol:SH2B1 ; xref: HGNC:30417 ; xref: OMIM:608937 ; xref: GENATLAS:SH2B1 ; xref: UNIPROTKB/SWISSPROT:Q9NRF2] Orphanet ID- 19857 OMIM:611913 Del(16)(p11.2) EXACT Monosomy 16p11.2 EXACT Del(16)(p11.2) 16p11.2 microduplication syndrome Dup(16)(p11.2) Trisomy 16p11.2 ICD10:Q92.3 Orphanet ID- 19858 OMIM:614671 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Dup(16)(p11.2) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204 Trisomy 16p11.2 EXACT Dup(16)(p11.2) EXACT Trisomy 16p11.2 16p11.2p12.2 microdeletion syndrome 16p11.2-p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Monosomy 16p11.2-p12.2 Monosomy 16p11.2p12.2 OMIM:613604 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; 16p11.2-p12.2 microdeletion syndrome ICD10:Q93.5 Monosomy 16p11.2-p12.2 Monosomy 16p11.2p12.2 Orphanet ID- 19859 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211 Del(16)(p11.2p12.2) EXACT Del(16)(p11.2p12.2) EXACT 16p11.2-p12.2 microdeletion syndrome EXACT Monosomy 16p11.2-p12.2 EXACT Monosomy 16p11.2p12.2 Distal 16p11.2 microdeletion syndrome Distal del(16)(p11.2) Distal monosomy 16p11.2 Distal monosomy 16p11.2 Distal del(16)(p11.2) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 Orphanet ID- 19860 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:293315 ; Name:SH2B adaptor protein 1 ; Symbol:SH2B1 ; xref: HGNC:30417 ; xref: OMIM:608937 ; xref: GENATLAS:SH2B1 ; xref: UNIPROTKB/SWISSPROT:Q9NRF2] OMIM:613444 ICD10:Q93.5 EXACT Distal del(16)(p11.2) EXACT Distal monosomy 16p11.2 14q11.2 microduplication syndrome Dup(14)(q11.2) Trisomy 14q11.2 Dup(14)(q11.2) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229 Orphanet ID- 19861 Gene [OrphaNum:167854 ; Name:Forkhead box G1 ; Symbol:FOXG1 ; xref: GENATLAS:FOXG1 ; xref: HGNC:3811 ; xref: OMIM:164874 ; xref: UNIPROTKB/SWISSPROT:P55316 ; xref: ENSEMBL:ENSG00000176165] prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.3 Trisomy 14q11.2 EXACT Trisomy 14q11.2 EXACT Dup(14)(q11.2) 16p13.11 microdeletion syndrome Del(16)(p13.11) Monosomy 16p13.11 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Monosomy 16p13.11 ICD10:Q93.5 Del(16)(p13.11) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236 Orphanet ID- 19862 EXACT Del(16)(p13.11) EXACT Monosomy 16p13.11 16p13.11 microduplication syndrome Dup(16)(p13.11) Trisomy 16p13.11 Orphanet ID- 19863 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Trisomy 16p13.11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243 Dup(16)(p13.11) ICD10:Q92.3 EXACT Trisomy 16p13.11 EXACT Dup(16)(p13.11) 16q24.3 microdeletion syndrome Del(16)(q24.3) Monosomy 16q24.3 ICD10:Q93.5 Monosomy 16q24.3 Orphanet ID- 19864 Gene [OrphaNum:273977 ; Name:Ankyrin repeat domain 11 ; Symbol:ANKRD11 ; xref: ENSEMBL:ENSG00000167522 ; xref: OMIM:611192 ; xref: UNIPROTKB/SWISSPROT:Q6UB99 ; xref: HGNC:21316 ; xref: GENATLAS:ANKRD11] Del(16)(q24.3) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250 EXACT Del(16)(q24.3) EXACT Monosomy 16q24.3 Distal 17p13.3 microdeletion syndrome Distal del(17)(p13.3 ) Distal monosomy 17p13.3 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257 Distal monosomy 17p13.3 Distal del(17)(p13.3 ) Orphanet ID- 19865 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; EXACT Distal monosomy 17p13.3 EXACT Distal del(17)(p13.3 ) 17q12 microdeletion syndrome Del(17)(q12) Monosomy 17q12 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; OMIM:614527 ICD10:Q93.5 Gene [OrphaNum:158588 ; Name:HNF1 homeobox B ; Symbol:HNF1B ; xref: ENSEMBL:ENSG00000108753 ; xref: REACTOME:P35680 ; xref: GENATLAS:HNF1B ; xref: HGNC:11630 ; xref: OMIM:189907 ; xref: UNIPROTKB/SWISSPROT:P35680] Del(17)(q12) Monosomy 17q12 Orphanet ID- 19866 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265 EXACT Monosomy 17q12 EXACT Del(17)(q12) 17q12 microduplication syndrome Dup(17)(q12) Trisomy 17q12 OMIM:614526 Trisomy 17q12 Dup(17)(q12) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272 ICD10:Q92.3 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19867 EXACT Trisomy 17q12 EXACT Dup(17)(q12) 17q23.1q23.2 microdeletion syndrome 17q23.1-q23.2 microdeletion syndrome Del(17)(q23.1q23.2) Monosomy 17q23.1-q23.2 Monosomy 17q23.1q23.2 Gene [OrphaNum:269925 ; Name:T-box 2 ; Symbol:TBX2 ; xref: ENSEMBL:ENSG00000121068 ; xref: GENATLAS:TBX2 ; xref: UNIPROTKB/SWISSPROT:Q13207 ; xref: HGNC:11597 ; xref: OMIM:600747] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279 Gene [OrphaNum:119966 ; Name:T-box 4 ; Symbol:TBX4 ; xref: GENATLAS:TBX4 ; xref: HGNC:11603 ; xref: OMIM:601719 ; xref: UNIPROTKB/SWISSPROT:P57082 ; xref: ENSEMBL:ENSG00000121075] ICD10:Q93.5 Del(17)(q23.1q23.2) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 19868 Monosomy 17q23.1-q23.2 Monosomy 17q23.1q23.2 OMIM:613355 17q23.1-q23.2 microdeletion syndrome EXACT Monosomy 17q23.1q23.2 EXACT 17q23.1-q23.2 microdeletion syndrome EXACT Del(17)(q23.1q23.2) EXACT Monosomy 17q23.1-q23.2 Trisomy 17p Dup(17p) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290 Orphanet ID- 19869 ICD10:Q92.2 Dup(17p) prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Dup(17p) Gastrocutaneous syndrome OMIM:137270 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 Orphanet ID- 1987 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 20p12.3 microdeletion syndrome Del(20)(p12.3) Monosomy 20p12.3 Del(20)(p12.3) Monosomy 20p12.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:179459 ; Name:Bone morphogenetic protein 2 ; Symbol:BMP2 ; xref: ENSEMBL:ENSG00000125845 ; xref: REACTOME:P12643 ; xref: GENATLAS:BMP2 ; xref: HGNC:1069 ; xref: OMIM:112261 ; xref: UNIPROTKB/SWISSPROT:P12643] Orphanet ID- 19870 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295 ICD10:Q93.5 EXACT Del(20)(p12.3) EXACT Monosomy 20p12.3 Paternal 20q13.2q13.3 microdeletion syndrome Paternal 20q13.2-q13.3 microdeletion syndrome Paternal del(20)(q13.2q13.3) Paternal monosomy 20q13.2-q13.3 Paternal monosomy 20q13.2q13.3 Paternal del(20)(q13.2q13.3) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304 Paternal monosomy 20q13.2-q13.3 ICD10:Q93.5 Orphanet ID- 19871 Paternal 20q13.2-q13.3 microdeletion syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Paternal monosomy 20q13.2q13.3 EXACT Paternal monosomy 20q13.2-q13.3 EXACT Paternal monosomy 20q13.2q13.3 EXACT Paternal del(20)(q13.2q13.3) EXACT Paternal 20q13.2-q13.3 microdeletion syndrome 20q13.33 microdeletion syndrome Del(20)(q13.33) Monosomy 20q13.33 ICD10:Q93.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311 Del(20)(q13.33) prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19872 Monosomy 20q13.33 EXACT Monosomy 20q13.33 EXACT Del(20)(q13.33) Trisomy 20p Dup(20p) Dup(20p) ICD10:Q92.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19873 EXACT Dup(20p) 21q22.11q22.12 microdeletion syndrome 21q22.11-q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Monosomy 21q22.11-q22.12 Monosomy 21q22.11q22.12 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 Del(21)(q22.11q22.12) Monosomy 21q22.11-q22.12 Monosomy 21q22.11q22.12 ICD10:Q93.5 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; 21q22.11-q22.12 microdeletion syndrome Orphanet ID- 19874 EXACT 21q22.11-q22.12 microdeletion syndrome EXACT Del(21)(q22.11q22.12) EXACT Monosomy 21q22.11q22.12 EXACT Monosomy 21q22.11-q22.12 Distal 22q11.2 microdeletion syndrome Distal del(22)(q11.2) Distal monosomy 22q11.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q93.5 Distal del(22)(q11.2) Orphanet ID- 19875 Distal monosomy 22q11.2 OMIM:611867 EXACT Distal monosomy 22q11.2 EXACT Distal del(22)(q11.2) Distal 22q11.2 microduplication syndrome Distal dup(22)(q11.2) Distal trisomy 22q11.2 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.3 Distal dup(22)(q11.2) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337 Orphanet ID- 19876 Distal trisomy 22q11.2 EXACT Distal trisomy 22q11.2 EXACT Distal dup(22)(q11.2) Trisomy 1q Duplication 1q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.2 Orphanet ID- 19877 Duplication 1q EXACT Duplication 1q 2p15p16.1 microdeletion syndrome 2p15-p16.1 microdeletion syndrome Del(2)(p15p16.1) Monosomy 2p15-p16.1 Monosomy 2p15p16.1 Orphanet ID- 19878 Monosomy 2p15p16.1 Monosomy 2p15-p16.1 OMIM:612513 Del(2)(p15p16.1) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:Q93.5 2p15-p16.1 microdeletion syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349 EXACT Monosomy 2p15p16.1 EXACT Del(2)(p15p16.1) EXACT Monosomy 2p15-p16.1 EXACT 2p15-p16.1 microdeletion syndrome Monosomy Xp21 Del(X)(p21) Xp21 microdeletion syndrome Orphanet ID- 19879 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Del(X)(p21) Xp21 microdeletion syndrome OMIM:300679 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 EXACT Del(X)(p21) EXACT Xp21 microdeletion syndrome Xq27.3q28 duplication syndrome Dup(X)(q27.3q28) Trisomy Xq27.3-q28 Trisomy Xq27.3q28 Xq27.3-q28 microduplication syndrome Gene [OrphaNum:121878 ; Name:Fragile X mental retardation 1 ; Symbol:FMR1 ; xref: GENATLAS:FMR1 ; xref: HGNC:3775 ; xref: OMIM:309550 ; xref: UNIPROTKB/SWISSPROT:Q06787 ; xref: ENSEMBL:ENSG00000102081] Trisomy Xq27.3-q28 Trisomy Xq27.3q28 Orphanet ID- 19880 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483 Gene [OrphaNum:119509 ; Name:AF4/FMR2 family, member 2 ; Symbol:AFF2 ; xref: OMIM:300806 ; xref: UNIPROTKB/SWISSPROT:P51816 ; xref: GENATLAS:AFF2 ; xref: HGNC:3776 ; xref: ENSEMBL:ENSG00000155966] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Dup(X)(q27.3q28) Xq27.3-q28 microduplication syndrome OMIM:300869 EXACT Trisomy Xq27.3-q28 EXACT Xq27.3-q28 microduplication syndrome EXACT Dup(X)(q27.3q28) EXACT Trisomy Xq27.3q28 Kleefstra syndrome Orphanet ID- 19881 OMIM:610253 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to Xp11.3 microdeletion Atypical Norrie disease due to del(X)(p11.3) Orphanet ID- 19882 Atypical Norrie disease due to Xp11.3 microdeletion prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Atypical Norrie disease due to del(X)(p11.3) OMIM:310600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501 EXACT Atypical Norrie disease due to del(X)(p11.3) EXACT Atypical Norrie disease due to Xp11.3 microdeletion Retinitis pigmentosa and intellectual deficit due to monosomy Xp11.3 Retinitis pigmentosa and intellectual deficit due to Xp11.3 microdeletion Retinitis pigmentosa and intellectual deficit due to del(X)(p11.3) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261512 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Retinitis pigmentosa and intellectual deficit due to Xp11.3 microdeletion Retinitis pigmentosa and intellectual deficit due to del(X)(p11.3) OMIM:300578 Orphanet ID- 19883 EXACT Retinitis pigmentosa and intellectual deficit due to Xp11.3 microdeletion EXACT Retinitis pigmentosa and intellectual deficit due to del(X)(p11.3) Maternal uniparental disomy of chromosome X UPD(X)mat UPD(X)mat Orphanet ID- 19884 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; EXACT UPD(X)mat Paternal uniparental disomy of chromosome X UPD(X)pat UPD(X)pat prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524 Orphanet ID- 19885 EXACT UPD(X)pat Ring chromosome Y r(Y) r(Y) ICD10:Q93.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529 Orphanet ID- 19886 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; EXACT r(Y) 49,XXXYY syndrome Orphanet ID- 19887 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q98.8 Mowat-Wilson syndrome due to monosomy 2q22 Hirschsprung disease and intellectual deficit due to 2q22 microdeletion Hirschsprung disease and intellectual deficit due to del(2)(q22) Hirschsprung disease and intellectual deficit due to monosomy 2q22 Mowat-Wilson syndrome due to 2q22 microdeletion Mowat-Wilson syndrome due to del(2)q(22) Orphanet ID- 19888 Hirschsprung disease and intellectual deficit due to 2q22 microdeletion Mowat-Wilson syndrome due to del(2)q(22) Hirschsprung disease and intellectual deficit due to del(2)(q22) Hirschsprung disease and intellectual deficit due to monosomy 2q22 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:120593 ; Name:Zinc finger E-box binding homeobox 2 ; Symbol:ZEB2 ; xref: GENATLAS:ZEB2 ; xref: HGNC:14881 ; xref: OMIM:605802 ; xref: UNIPROTKB/SWISSPROT:O60315 ; xref: ENSEMBL:ENSG00000169554] ICD10:Q43.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 OMIM:235730 Mowat-Wilson syndrome due to 2q22 microdeletion EXACT Mowat-Wilson syndrome due to 2q22 microdeletion EXACT Hirschsprung disease and intellectual deficit due to del(2)(q22) EXACT Hirschsprung disease and intellectual deficit due to monosomy 2q22 EXACT Hirschsprung disease and intellectual deficit due to 2q22 microdeletion EXACT Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson syndrome due to a point mutation Hirschsprung disease and intellectual deficit due to a point mutation Hirschsprung disease and intellectual deficit due to a point mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q43.1 Orphanet ID- 19889 EXACT Hirschsprung disease and intellectual deficit due to a point mutation Gaucher disease - ophthalmoplegia - cardiovascular calcification Cardiovascular Gaucher disease Gaucher disease type 3C Gaucher-like disease ICD10:E75.2 Gaucher-like disease Gaucher disease type 3C OMIM:231005 Orphanet ID- 1989 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:122039 ; Name:'Glucosidase, beta; acid (includes glucosylceramidase)' ; Symbol:GBA ; xref: GENATLAS:GBA ; xref: HGNC:4177 ; xref: OMIM:606463 ; xref: UNIPROTKB/SWISSPROT:P04062 ; xref: ENSEMBL:ENSG00000177628 ; xref: REACTOME:P04062] Cardiovascular Gaucher disease EXACT Gaucher-like disease EXACT Gaucher disease type 3C EXACT Cardiovascular Gaucher disease Blepharophimosis - epicanthus inversus - ptosis, due to 3q23 microdeletion Blepharophimosis - epicanthus inversus - ptosis, due to del(3)(q23) Blepharophimosis - epicanthus inversus - ptosis, due to monosomy 3q23 Blepharophimosis types 1 and 2, due to 3q23 microdeletion Blepharophimosis types 1 and 2, due to del(3)(q23) Blepharophimosis types 1 and 2, due to monosomy 3q23 Gene [OrphaNum:121904 ; Name:Forkhead box L2 ; Symbol:FOXL2 ; xref: UNIPROTKB/SWISSPROT:P58012 ; xref: GENATLAS:FOXL2 ; xref: HGNC:1092 ; xref: OMIM:605597 ; xref: ENSEMBL:ENSG00000183770] Blepharophimosis types 1 and 2, due to monosomy 3q23 Blepharophimosis types 1 and 2, due to del(3)(q23) OMIM:110100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261559 Blepharophimosis - epicanthus inversus - ptosis, due to del(3)(q23) Orphanet ID- 19890 ICD10:Q10.3 Blepharophimosis - epicanthus inversus - ptosis, due to monosomy 3q23 Blepharophimosis types 1 and 2, due to 3q23 microdeletion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Blepharophimosis - epicanthus inversus - ptosis, due to monosomy 3q23 EXACT Blepharophimosis - epicanthus inversus - ptosis, due to del(3)(q23) EXACT Blepharophimosis types 1 and 2, due to monosomy 3q23 EXACT Blepharophimosis types 1 and 2, due to del(3)(q23) EXACT Blepharophimosis types 1 and 2, due to 3q23 microdeletion Blepharophimosis - epicanthus inversus - ptosis due to a point mutation Blepharophimosis types 1 and 2 due to a point mutation Orphanet ID- 19891 Blepharophimosis types 1 and 2 due to a point mutation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q10.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261572 EXACT Blepharophimosis types 1 and 2 due to a point mutation Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion Blepharophimosis types 1 and 2 due to polyA expansion Blepharophimosis types 1 and 2 due to polyA expansion Orphanet ID- 19892 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261579 ICD10:Q10.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Blepharophimosis types 1 and 2 due to polyA expansion Familial adenomatous polyposis due to 5q22.2 microdeletion Colorectal adenomatous polyposis due to monosomy 5q22.2 FAP due to monosomy 5q22.2 Familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 FAP due to monosomy 5q22.2 Familial adenomatous polyposis due to monosomy 5q22.2 Familial adenomatous polyposis due to del(5)(q22.2) Colorectal adenomatous polyposis due to monosomy 5q22.2 OMIM:175100 Orphanet ID- 19893 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123393 ; Name:Adenomatosis polyposis coli gene ; Symbol:APC ; xref: GENATLAS:APC ; xref: HGNC:583 ; xref: UNIPROTKB/SWISSPROT:P25054 ; xref: OMIM:611731 ; xref: REACTOME:P25054 ; xref: ENSEMBL:ENSG00000134982] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 ICD10:D12.6 EXACT Colorectal adenomatous polyposis due to monosomy 5q22.2 EXACT Familial adenomatous polyposis due to monosomy 5q22.2 EXACT Familial polyposis coli due to monosomy 5q22.2 EXACT FAP due to monosomy 5q22.2 EXACT Familial adenomatous polyposis due to del(5)(q22.2) Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to del(20)(p12) Alagille syndrome due to monosomy 20p12 Alagille-Watson syndrome due to monosomy 20p12 Arteriohepatic dysplasia due to monosomy 20p12 Syndromic bile duct paucity due to monosomy 20p12 Syndromic bile duct paucity due to monosomy 20p12 Alagille syndrome due to del(20)(p12) Alagille syndrome due to monosomy 20p12 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 Arteriohepatic dysplasia due to monosomy 20p12 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; OMIM:118450 Orphanet ID- 19894 ICD10:Q44.7 Gene [OrphaNum:122719 ; Name:Jagged 1 ; Symbol:JAG1 ; xref: GENATLAS:JAG1 ; xref: HGNC:6188 ; xref: OMIM:601920 ; xref: UNIPROTKB/SWISSPROT:P78504 ; xref: REACTOME:P78504 ; xref: ENSEMBL:ENSG00000101384] Alagille-Watson syndrome due to monosomy 20p12 EXACT Alagille-Watson syndrome due to monosomy 20p12 EXACT Syndromic bile duct paucity due to monosomy 20p12 EXACT Alagille syndrome due to monosomy 20p12 EXACT Alagille syndrome due to del(20)(p12) EXACT Arteriohepatic dysplasia due to monosomy 20p12 Alagille syndrome due to a JAG1 point mutation Alagille-Watson syndrome due to a JAG1 point mutation Arteriohepatic dysplasia due to a JAG1 point mutation Syndromic bile duct paucity due to a JAG1 point mutation ICD10:Q44.7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:118450 Syndromic bile duct paucity due to a JAG1 point mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 Orphanet ID- 19895 Gene [OrphaNum:122719 ; Name:Jagged 1 ; Symbol:JAG1 ; xref: GENATLAS:JAG1 ; xref: HGNC:6188 ; xref: OMIM:601920 ; xref: UNIPROTKB/SWISSPROT:P78504 ; xref: REACTOME:P78504 ; xref: ENSEMBL:ENSG00000101384] Alagille-Watson syndrome due to a JAG1 point mutation Arteriohepatic dysplasia due to a JAG1 point mutation EXACT Arteriohepatic dysplasia due to a JAG1 point mutation EXACT Syndromic bile duct paucity due to a JAG1 point mutation EXACT Alagille-Watson syndrome due to a JAG1 point mutation Alagille syndrome due to a NOTCH2 point mutation Alagille-Watson syndrome due to a NOTCH2 point mutation Arteriohepatic dysplasia due to a NOTCH2 point mutation Syndromic bile duct paucity due to a NOTCH2 point mutation Alagille-Watson syndrome due to a NOTCH2 point mutation Orphanet ID- 19896 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:610205 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 Syndromic bile duct paucity due to a NOTCH2 point mutation Gene [OrphaNum:123858 ; Name:Notch 2 ; Symbol:NOTCH2 ; xref: GENATLAS:NOTCH2 ; xref: HGNC:7882 ; xref: OMIM:600275 ; xref: UNIPROTKB/SWISSPROT:Q04721 ; xref: ENSEMBL:ENSG00000134250 ; xref: REACTOME:Q04721] ICD10:Q44.7 Arteriohepatic dysplasia due to a NOTCH2 point mutation EXACT Arteriohepatic dysplasia due to a NOTCH2 point mutation EXACT Alagille-Watson syndrome due to a NOTCH2 point mutation EXACT Syndromic bile duct paucity due to a NOTCH2 point mutation Okihiro syndrome due to 20q13 microdeletion Duane-radial ray syndrome due to monosomy 20q13 Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to monosomy 20q13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 Okihiro syndrome due to del(20)(q13) prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Duane-radial ray syndrome due to monosomy 20q13 Okihiro syndrome due to monosomy 20q13 OMIM:607323 Orphanet ID- 19897 Gene [OrphaNum:118456 ; Name:Sal-like 4 (Drosophila) ; Symbol:SALL4 ; xref: GENATLAS:SALL4 ; xref: HGNC:15924 ; xref: OMIM:607343 ; xref: UNIPROTKB/SWISSPROT:Q9UJQ4 ; xref: ENSEMBL:ENSG00000101115] EXACT Okihiro syndrome due to monosomy 20q13 EXACT Okihiro syndrome due to del(20)(q13) EXACT Duane-radial ray syndrome due to monosomy 20q13 Okihiro syndrome due to a point mutation Duane-radial ray syndrome due to a point mutation Duane-radial ray syndrome due to a point mutation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 Orphanet ID- 19898 EXACT Duane-radial ray syndrome due to a point mutation Kleefstra syndrome due to a point mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 Orphanet ID- 19899 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:610253 Gene [OrphaNum:226051 ; Name:Euchromatic histone-lysine N-methyltransferase 1 ; Symbol:EHMT1 ; xref: GENATLAS:EHMT1 ; xref: HGNC:24650 ; xref: OMIM:607001 ; xref: UNIPROTKB/SWISSPROT:Q9H9B1 ; xref: ENSEMBL:ENSG00000181090] Genito-palato-cardiac syndrome Gardner-Silengo-Wachtel syndrome OMIM:231060 Gardner-Silengo-Wachtel syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 Orphanet ID- 1991 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q87.8 EXACT Gardner-Silengo-Wachtel syndrome German syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 OMIM:231080 Orphanet ID- 1992 Partial deletion of chromosome 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261766 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19923 Partial deletion of chromosome 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261771 Orphanet ID- 19924 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of chromosome 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261776 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19925 Partial deletion of chromosome 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261781 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19926 Partial deletion of chromosome 5 Orphanet ID- 19927 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261786 Partial deletion of chromosome 6 Orphanet ID- 19928 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261791 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of chromosome 7 Orphanet ID- 19929 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261796 Geroderma osteodysplastica Walt Disney dwarfism Orphanet ID- 1993 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 Walt Disney dwarfism prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:231070 Gene [OrphaNum:201595 ; Name:Pyrroline-5-carboxylate reductase 1 ; Symbol:PYCR1 ; xref: ENSEMBL:ENSG00000183010 ; xref: GENATLAS:PYCR1 ; xref: HGNC:9721 ; xref: OMIM:179035 ; xref: UNIPROTKB/SWISSPROT:P32322 ; xref: REACTOME:P32322] Gene [OrphaNum:169953 ; Name:Golgin, RAB6-interacting ; Symbol:GORAB ; xref: HGNC:25676 ; xref: OMIM:607983 ; xref: GENATLAS:GORAB ; xref: UNIPROTKB/SWISSPROT:Q5T7V8 ; xref: ENSEMBL:ENSG00000120370] EXACT Walt Disney dwarfism Partial deletion of chromosome 8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261801 Orphanet ID- 19930 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of chromosome 9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261806 Orphanet ID- 19931 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of chromosome 10 Orphanet ID- 19932 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261811 Partial deletion of chromosome 11 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261816 Orphanet ID- 19933 Partial deletion of the long arm of chromosome 12 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261821 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19934 Partial deletion of chromosome 16 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261826 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19935 Partial deletion of chromosome 17 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261831 Orphanet ID- 19936 Partial deletion of chromosome 18 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261836 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19937 Partial deletion of chromosome 19 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261841 Orphanet ID- 19938 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of chromosome 20 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19939 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261846 Partial deletion of the short arm of chromosome 1 Orphanet ID- 19940 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261857 Partial deletion of the short arm of chromosome 2 Orphanet ID- 19941 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261866 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the short arm of chromosome 3 Orphanet ID- 19942 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261875 Partial deletion of the short arm of chromosome 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261884 Orphanet ID- 19943 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the short arm of chromosome 5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261893 Orphanet ID- 19944 Partial deletion of the short arm of chromosome 6 Orphanet ID- 19945 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261902 Partial deletion of the short arm of chromosome 7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19946 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261911 Partial deletion of the short arm of chromosome 8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261920 Orphanet ID- 19947 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the short arm of chromosome 9 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261929 Orphanet ID- 19948 Partial deletion of the short arm of chromosome 10 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261938 Orphanet ID- 19949 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the short arm of chromosome 11 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261947 Orphanet ID- 19950 Partial deletion of the short arm of chromosome 16 Orphanet ID- 19951 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261956 Partial monosomy of the short arm of chromosome 17 Orphanet ID- 19952 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261965 Partial deletion of the short arm of chromosome 18 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261974 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19953 Partial deletion of the short arm of chromosome 19 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261983 Orphanet ID- 19954 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial monosomy of the short arm of chromosome 20 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261992 Orphanet ID- 19955 Partial deletion of the long arm of chromosome 1 Orphanet ID- 19956 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262001 Partial deletion of the long arm of chromosome 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262010 Orphanet ID- 19957 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262019 Orphanet ID- 19958 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 4 Orphanet ID- 19959 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262029 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262038 Orphanet ID- 19960 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 6 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262047 Orphanet ID- 19961 Partial deletion of the long arm of chromosome 7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262056 Orphanet ID- 19962 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262065 Orphanet ID- 19963 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial monosomy of the long arm of chromosome 9 Orphanet ID- 19964 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262074 Partial monosomy of the long arm of chromosome 10 Orphanet ID- 19965 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262083 Partial deletion of the long arm of chromosome 11 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19966 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262092 Partial deletion of the long arm of chromosome 13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262101 Orphanet ID- 19967 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 14 Orphanet ID- 19968 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262110 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 15 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262119 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19969 Prominent glabella - microcephaly - hypogenitalism Mac Dermot-Winter syndrome OMIM:247990 Mac Dermot-Winter syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 1997 EXACT Mac Dermot-Winter syndrome Partial deletion of the long arm of chromosome 16 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19970 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262128 Partial deletion of the long arm of chromosome 17 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262137 Orphanet ID- 19971 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 18 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262146 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19972 Partial deletion of the long arm of chromosome 19 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262155 Orphanet ID- 19973 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 20 Orphanet ID- 19974 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262164 Partial deletion of the long arm of chromosome 21 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262173 Orphanet ID- 19975 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial deletion of the long arm of chromosome 22 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262182 Orphanet ID- 19976 Partial duplication of chromosome 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262191 Orphanet ID- 19977 Partial duplication of chromosome 2 Orphanet ID- 19978 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262196 Partial duplication of chromosome 3 Orphanet ID- 19979 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262201 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Glaucoma - ectopia - microspherophakia - stiff joints - short stature Gemss syndrome Orphanet ID- 1998 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gemss syndrome ICD10:Q87.1 Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] OMIM:608328 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 EXACT Gemss syndrome Partial duplication of chromosome 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262206 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19980 Partial trisomy/tetrasomy of chromosome 5 Orphanet ID- 19981 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262211 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of chromosome 6 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262628 Orphanet ID- 19982 Partial duplication of chromosome 7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262633 Orphanet ID- 19983 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of chromosome 8 Orphanet ID- 19984 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262638 Partial trisomy/tetrasomy of chromosome 9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262643 Orphanet ID- 19985 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of chromosome 10 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262648 Orphanet ID- 19986 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of chromosome 11 Orphanet ID- 19987 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262653 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial trisomy/tetrasomy of the short arm of chromosome 12 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262658 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19988 Glaucoma - sleep apnea Orphanet ID- 1999 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085 OMIM:137763 Partial duplication of chromosome 16 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262672 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19990 Partial duplication of chromosome 17 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262677 Orphanet ID- 19991 Partial trisomy/tetrasomy of chromosome 18 Orphanet ID- 19992 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262682 Partial duplication of chromosome 19 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262687 Orphanet ID- 19993 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial trisomy of chromosome 20 Orphanet ID- 19994 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262692 Partial duplication of the short arm of chromosome 2 Orphanet ID- 19995 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262698 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the short arm of chromosome 3 Orphanet ID- 19996 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262707 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the short arm of chromosome 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262716 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19997 Partial trisomy/tetrasomy of the short arm of chromosome 5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262725 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19998 Partial duplication of the short arm of chromosome 6 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 19999 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262740 Alexander disease OMIM:203450 Gene [OrphaNum:123745 ; Name:NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa ; Symbol:NDUFV1 ; xref: GENATLAS:NDUFV1 ; xref: HGNC:7716 ; xref: OMIM:161015 ; xref: UNIPROTKB/SWISSPROT:P49821 ; xref: ENSEMBL:ENSG00000167792 ; xref: REACTOME:P49821] ICD10:E75.2 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 Orphanet ID- 2 Gene [OrphaNum:122078 ; Name:Glial fibrillary acidic protein ; Symbol:GFAP ; xref: GENATLAS:GFAP ; xref: HGNC:4235 ; xref: OMIM:137780 ; xref: UNIPROTKB/SWISSPROT:P14136 ; xref: ENSEMBL:ENSG00000131095 ; xref: REACTOME:P14136] Glomerulonephritis - sparse hair - telangiectasis Orphanet ID- 2000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2087 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:137940 Partial duplication of the short arm of chromosome 7 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262749 Partial duplication of the short arm of chromosome 8 Orphanet ID- 20001 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262758 Partial trisomy of the short arm of chromosome 9 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262767 Orphanet ID- 20002 Partial duplication of the short arm of chromosome 10 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262776 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20003 Partial duplication of the short arm of chromosome 11 Orphanet ID- 20004 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262785 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the short arm of chromosome 16 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262794 Orphanet ID- 20005 Partial duplication of the short arm of chromosome 17 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262803 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20006 Partial trisomy/tetrasomy of the short arm of chromosome 18 Orphanet ID- 20007 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262812 Partial trisomy of the short arm of chromosome 20 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262821 Orphanet ID- 20008 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the long arm of chromosome 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262833 Orphanet ID- 20009 Partial duplication of the long arm of chromosome 2 Orphanet ID- 20010 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262842 Partial duplication of the long arm of chromosome 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262851 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20011 Partial duplication of the long arm of chromosome 4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262860 Orphanet ID- 20012 Partial trisomy of the long arm of chromosome 5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262869 Orphanet ID- 20013 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the long arm of chromosome 6 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20014 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262878 Partial duplication of the long arm of chromosome 7 Orphanet ID- 20015 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262887 Partial duplication of the long arm of chromosome 8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262896 Orphanet ID- 20016 Partial trisomy of the long arm of chromosome 9 Orphanet ID- 20017 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262905 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the long arm of chromosome 10 Orphanet ID- 20018 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262914 Partial duplication of the long arm of chromosome 11 Orphanet ID- 20019 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262923 GMS syndrome Goniodysgenesis - intellectual deficit - short stature Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 OMIM:138770 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Goniodysgenesis - intellectual deficit - short stature Orphanet ID- 2002 EXACT Goniodysgenesis - intellectual deficit - short stature Partial duplication of the long arm of chromosome 13 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262932 Orphanet ID- 20020 Partial duplication of the long arm of chromosome 14 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262941 Orphanet ID- 20021 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the long arm of chromosome 15 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20022 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262950 Partial trisomy of the long arm of chromosome 16 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20023 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262959 Partial duplication of the long arm of chromosome 17 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262968 Orphanet ID- 20024 Partial trisomy of the long arm of chromosome 18 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262977 Orphanet ID- 20025 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of the long arm of chromosome 19 Orphanet ID- 20026 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262986 Partial trisomy of the long arm of chromosome 20 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262995 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20027 Partial duplication of the long arm of chromosome 22 Orphanet ID- 20028 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263004 Multinodular goiter - cystic kidney - polydactyly Daneman-Davy-Mancer syndrome Thyroid-renal-digital anomalies Orphanet ID- 2003 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091 OMIM:138790 Thyroid-renal-digital anomalies Daneman-Davy-Mancer syndrome EXACT Thyroid-renal-digital anomalies EXACT Daneman-Davy-Mancer syndrome Glycogen storage disease type 15 GSD type 15 GSD type XV Glycogen storage disease type XV Glycogenin deficiency Type 15 glycogenosis Type XV glycogenosis prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Type XV glycogenosis Glycogen storage disease type XV Glycogenin deficiency Type 15 glycogenosis GSD type XV Orphanet ID- 20039 Gene [OrphaNum:269704 ; Name:glycogenin 1 ; Symbol:GYG1 ; xref: REACTOME:P46976 ; xref: OMIM:603942 ; xref: HGNC:4699 ; xref: GENATLAS:GYG1 ; xref: UNIPROTKB/SWISSPROT:P46976 ; xref: ENSEMBL:ENSG00000163754] OMIM:613507 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 GSD type 15 ICD10:E74.0 EXACT Glycogenin deficiency EXACT Glycogen storage disease type XV EXACT GSD type 15 EXACT Type 15 glycogenosis EXACT Type XV glycogenosis EXACT GSD type XV Focal dermal hypoplasia Goltz syndrome Goltz-Gorlin syndrome Gene [OrphaNum:159255 ; Name:Porcupine homolog (Drosophila) ; Symbol:PORCN ; xref: GENATLAS:PORCN ; xref: HGNC:17652 ; xref: OMIM:300651 ; xref: UNIPROTKB/SWISSPROT:Q9H237 ; xref: ENSEMBL:ENSG00000102312] OMIM:305600 Goltz-Gorlin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 ICD10:Q82.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Goltz syndrome Orphanet ID- 2004 EXACT Goltz-Gorlin syndrome EXACT Goltz syndrome MRCS syndrome Microcornea, rod-cone dystrophy, cataract and posterior staphyloma prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:119029 ; Name:Bestrophin 1 ; Symbol:BEST1 ; xref: OMIM:607854 ; xref: UNIPROTKB/SWISSPROT:O76090 ; xref: GENATLAS:BEST1 ; xref: HGNC:12703 ; xref: ENSEMBL:ENSG00000167995] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 Orphanet ID- 20046 OMIM:193220 Microcornea, rod-cone dystrophy, cataract and posterior staphyloma EXACT Microcornea, rod-cone dystrophy, cataract and posterior staphyloma ATR-X-related syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263355 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20048 Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20049 Gene [OrphaNum:118766 ; Name:Solute carrier family 19, member 3 ; Symbol:SLC19A3 ; xref: GENATLAS:SLC19A3 ; xref: HGNC:16266 ; xref: OMIM:606152 ; xref: UNIPROTKB/SWISSPROT:Q9BZV2 ; xref: ENSEMBL:ENSG00000135917 ; xref: REACTOME:Q9BZV2] Bartter syndrome with hypocalcemia Bartter syndrome type 5 Bartter syndrome type V Gene [OrphaNum:119185 ; Name:Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) ; Symbol:CASR ; xref: GENATLAS:CASR ; xref: HGNC:1514 ; xref: OMIM:601199 ; xref: UNIPROTKB/SWISSPROT:P41180 ; xref: ENSEMBL:ENSG00000036828 ; xref: IUPHAR:54 ; xref: REACTOME:P41180] Orphanet ID- 20051 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263417 OMIM:601199 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Bartter syndrome type V Bartter syndrome type 5 EXACT Bartter syndrome type 5 EXACT Bartter syndrome type V Neuroacanthocytosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 Orphanet ID- 20055 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hyperinsulinism due to HNF4A deficiency Hyperinsulinemic hypoglycemia due to HNF4A deficiency ICD10:E16.1 Orphanet ID- 20056 Hyperinsulinemic hypoglycemia due to HNF4A deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 Gene [OrphaNum:122455 ; Name:Hepatocyte nuclear factor 4, alpha ; Symbol:HNF4A ; xref: GENATLAS:HNF4A ; xref: HGNC:5024 ; xref: OMIM:600281 ; xref: UNIPROTKB/SWISSPROT:P41235 ; xref: REACTOME:P41235 ; xref: IUPHAR:608 ; xref: ENSEMBL:ENSG00000101076] EXACT Hyperinsulinemic hypoglycemia due to HNF4A deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinemic hypoglycemia due to insulin receptor deficiency ICD10:E16.1 Orphanet ID- 20057 OMIM:609968 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458 Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinemic hypoglycemia due to insulin receptor deficiency Gene [OrphaNum:122664 ; Name:Insulin receptor ; Symbol:INSR ; xref: GENATLAS:INSR ; xref: HGNC:6091 ; xref: OMIM:147670 ; xref: UNIPROTKB/SWISSPROT:P06213 ; xref: ENSEMBL:ENSG00000171105 ; xref: REACTOME:P06213] EXACT Hyperinsulinemic hypoglycemia due to INSR deficiency EXACT Hyperinsulinemic hypoglycemia due to insulin receptor deficiency CHST3-related skeletal dysplasia Autosomal recessive Larsen syndrome Chondrodysplasia with congenital joint dislocations, CHST3 type SDCD, CHST3 type Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119431 ; Name:Carbohydrate (chondroitin 6) sulfotransferase 3 ; Symbol:CHST3 ; xref: GENATLAS:CHST3 ; xref: HGNC:1971 ; xref: OMIM:603799 ; xref: UNIPROTKB/SWISSPROT:Q7LGC8 ; xref: ENSEMBL:ENSG00000122863] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 Orphanet ID- 20058 SDCD, CHST3 type OMIM:143095 Chondrodysplasia with congenital joint dislocations, CHST3 type Autosomal recessive Larsen syndrome Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type EXACT Chondrodysplasia with congenital joint dislocations, CHST3 type EXACT Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type EXACT Autosomal recessive Larsen syndrome EXACT SDCD, CHST3 type Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis Antley-Bixler syndrome type 1 Antley-Bixler syndrome, FGFR2-related Orphanet ID- 20059 Antley-Bixler syndrome type 1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:207410 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263476 Antley-Bixler syndrome, FGFR2-related Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] EXACT Antley-Bixler syndrome type 1 EXACT Antley-Bixler syndrome, FGFR2-related Spondyloepiphyseal dysplasia, Maroteaux type Pseudo-Morquio syndrome type 2 Pseudo-Morquio syndrome type 2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 Orphanet ID- 20061 Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] OMIM:184095 EXACT Pseudo-Morquio syndrome type 2 CDG syndrome type IIi CDG2I Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type IIi Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 Orphanet ID- 20062 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Congenital disorder of glycosylation type IIi CDG2I Carbohydrate deficient glycoprotein syndrome type IIi OMIM:613612 ICD10:E77.8 Gene [OrphaNum:269752 ; Name:component of oligomeric golgi complex 5 ; Symbol:COG5 ; xref: HGNC:14857 ; xref: OMIM:606821 ; xref: GENATLAS:COG5 ; xref: UNIPROTKB/SWISSPROT:Q9UP83 ; xref: ENSEMBL:ENSG00000164597] EXACT Congenital disorder of glycosylation type IIi EXACT CDG2I EXACT Carbohydrate deficient glycoprotein syndrome type IIi CDG syndrome type Io CDG1O Carbohydrate deficient glycoprotein syndrome type Io Congenital disorder of glycosylation type Io ICD10:E77.8 Orphanet ID- 20063 CDG1O Gene [OrphaNum:269756 ; Name:dolichyl-phosphate mannosyltransferase polypeptide 3 ; Symbol:DPM3 ; xref: REACTOME:Q9P2X0 ; xref: HGNC:3007 ; xref: OMIM:605951 ; xref: GENATLAS:DPM3 ; xref: UNIPROTKB/SWISSPROT:Q9P2X0 ; xref: ENSEMBL:ENSG00000179085] Carbohydrate deficient glycoprotein syndrome type Io Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 Congenital disorder of glycosylation type Io prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:612937 EXACT Congenital disorder of glycosylation type Io EXACT CDG1O EXACT Carbohydrate deficient glycoprotein syndrome type Io CDG syndrome type IIj CDG2J Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type IIj prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:269762 ; Name:component of oligomeric golgi complex 4 ; Symbol:COG4 ; xref: ENSEMBL:ENSG00000103051 ; xref: UNIPROTKB/SWISSPROT:Q9H9E3 ; xref: HGNC:18620 ; xref: OMIM:606976 ; xref: GENATLAS:COG4] Congenital disorder of glycosylation type IIj OMIM:613489 Carbohydrate deficient glycoprotein syndrome type IIj Orphanet ID- 20064 CDG2J Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 ICD10:E77.8 EXACT Carbohydrate deficient glycoprotein syndrome type IIj EXACT CDG2J EXACT Congenital disorder of glycosylation type IIj CDG syndrome type IIg CDG2G Carbohydrate deficient glycoprotein syndrome type IIg Congenital disorder of glycosylation type IIg OMIM:611209 ICD10:E77.8 Congenital disorder of glycosylation type IIg Gene [OrphaNum:173556 ; Name:Component of oligomeric golgi complex 1 ; Symbol:COG1 ; xref: GENATLAS:COG1 ; xref: HGNC:6545 ; xref: OMIM:606973 ; xref: UNIPROTKB/SWISSPROT:Q8WTW3 ; xref: ENSEMBL:ENSG00000166685] Orphanet ID- 20065 CDG2G prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 Carbohydrate deficient glycoprotein syndrome type IIg EXACT Congenital disorder of glycosylation type IIg EXACT Carbohydrate deficient glycoprotein syndrome type IIg EXACT CDG2G Progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy due to KCTD7 deficiency Gene [OrphaNum:268343 ; Name:potassium channel tetramerisation domain containing 7 ; Symbol:KCTD7 ; xref: HGNC:21957 ; xref: OMIM:611725 ; xref: GENATLAS:KCTD7 ; xref: UNIPROTKB/SWISSPROT:Q96MP8 ; xref: ENSEMBL:ENSG00000243335] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20066 OMIM:611726 Progressive myoclonic epilepsy due to KCTD7 deficiency EXACT Progressive myoclonic epilepsy due to KCTD7 deficiency Localized peeling skin syndrome Localized deciduous skin Orphanet ID- 20068 Localized deciduous skin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q80.8 EXACT Localized deciduous skin Generalized peeling skin syndrome Generalized deciduous skin Generalized deciduous skin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543 ICD10:Q80.8 Orphanet ID- 20069 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Unknown; EXACT Generalized deciduous skin Gordon syndrome Camptodactyly - cleft palate- clubfoot Distal arthrogryposis type 3 Distal arthrogryposis type IIA Orphanet ID- 2007 Distal arthrogryposis type IIA prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Camptodactyly - cleft palate- clubfoot OMIM:114300 Distal arthrogryposis type 3 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 EXACT Camptodactyly - cleft palate- clubfoot EXACT Distal arthrogryposis type 3 EXACT Distal arthrogryposis type IIA Generalized peeling skin syndrome type A Generalized deciduous skin type A Gene [OrphaNum:120083 ; Name:Transglutaminase 5 ; Symbol:TGM5 ; xref: GENATLAS:TGM5 ; xref: HGNC:11781 ; xref: OMIM:603805 ; xref: UNIPROTKB/SWISSPROT:O43548 ; xref: ENSEMBL:ENSG00000104055] ICD10:Q80.8 OMIM:609796 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20070 Generalized deciduous skin type A Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 EXACT Generalized deciduous skin type A Generalized peeling skin syndrome type B Generalized deciduous skin type B prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 20071 ICD10:Q80.8 Gene [OrphaNum:119324 ; Name:Corneodesmosin ; Symbol:CDSN ; xref: GENATLAS:CDSN ; xref: HGNC:1802 ; xref: OMIM:602593 ; xref: UNIPROTKB/SWISSPROT:Q15517 ; xref: ENSEMBL:ENSG00000137197] OMIM:270300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 Generalized deciduous skin type B EXACT Generalized deciduous skin type B Generalized peeling skin syndrome type C Generalized deciduous skin type C Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263558 ICD10:Q80.8 Generalized deciduous skin type C prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 20072 EXACT Generalized deciduous skin type C Hereditary epidermolysis bullosa associated with ocular features Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263676 Orphanet ID- 20075 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Complex chromosomal rearrangement prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263708 Orphanet ID- 20076 X chromosome number anomaly Orphanet ID- 20078 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263714 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X chromosome number anomaly with female phenotype Orphanet ID- 20079 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263717 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gorlin-Chaudhry-Moss syndrome Craniofacial dysostosis - genital, dental, cardiac anomalies OMIM:233500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:Q87.8 Craniofacial dysostosis - genital, dental, cardiac anomalies Orphanet ID- 2008 EXACT Craniofacial dysostosis - genital, dental, cardiac anomalies X chromosome number anomaly with male phenotype Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263720 Orphanet ID- 20080 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Polysomy of X chromosome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20081 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263723 Partial deletion of chromosome X Orphanet ID- 20082 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263726 Partial monosomy of the short arm of chromosome X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263731 Orphanet ID- 20083 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Y chromosome number anomaly Orphanet ID- 20085 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263746 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X and Y chromosomal anomaly Orphanet ID- 20086 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263749 Partial deletion of the long arm of chromosome X prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20088 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263756 Grant syndrome Orphanet ID- 2009 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 OMIM:138930 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Partial duplication of chromosome X prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263768 Orphanet ID- 20090 Partial duplication of the short arm of chromosome X prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20091 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263775 Partial duplication of the long arm of chromosome X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263783 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20092 Uniparental disomy of chromosome X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263793 Orphanet ID- 20093 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 14q22q23 microdeletion syndrome 14q22-q23 microdeletion syndrome Del(14)(q22q23) Monosomy 14q22-q23 Monosomy 14q22q23 Orphanet ID- 20095 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:140047 ; Name:Bone morphogenetic protein 4 ; Symbol:BMP4 ; xref: GENATLAS:BMP4 ; xref: HGNC:1071 ; xref: OMIM:112262 ; xref: UNIPROTKB/SWISSPROT:P12644 ; xref: ENSEMBL:ENSG00000125378] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200 ICD10:Q93.5 Monosomy 14q22-q23 14q22-q23 microdeletion syndrome Monosomy 14q22q23 Gene [OrphaNum:118728 ; Name:SIX homeobox 6 ; Symbol:SIX6 ; xref: GENATLAS:SIX6 ; xref: HGNC:10892 ; xref: OMIM:606326 ; xref: UNIPROTKB/SWISSPROT:O95475 ; xref: ENSEMBL:ENSG00000184302] Del(14)(q22q23) EXACT Del(14)(q22q23) EXACT Monosomy 14q22-q23 EXACT 14q22-q23 microdeletion syndrome EXACT Monosomy 14q22q23 Partial duplication of the short arm of chromosome 1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264431 Orphanet ID- 20098 Monosomy 5p Cri du chat syndrome Deletion 5p OMIM:123450 Gene [OrphaNum:159484 ; Name:Catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) ; Symbol:CTNND2 ; xref: ENSEMBL:ENSG00000169862 ; xref: GENATLAS:CTNND2 ; xref: HGNC:2516 ; xref: OMIM:604275 ; xref: UNIPROTKB/SWISSPROT:Q9UQB3] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 Deletion 5p Orphanet ID- 201 ICD10:Q93.4 Cri du chat syndrome Gene [OrphaNum:158394 ; Name:Sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A ; Symbol:SEMA5A ; xref: REACTOME:Q13591 ; xref: GENATLAS:SEMA5A ; xref: HGNC:10736 ; xref: OMIM:609297 ; xref: UNIPROTKB/SWISSPROT:Q13591 ; xref: ENSEMBL:ENSG00000112902] EXACT Deletion 5p EXACT Cri du chat syndrome Acromesomelic dysplasia, Grebe type Chondrodysplasia, Grebe type ICD10:Q78.8 Orphanet ID- 2010 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965] OMIM:200700 Chondrodysplasia, Grebe type prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Chondrodysplasia, Grebe type Trisomy 8p Duplication 8p Duplication 8p prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.2 Orphanet ID- 20100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450 EXACT Duplication 8p Glycogen storage disease due to liver phosphorylase kinase deficiency GSD due to liver phosphorylase kinase deficiency GSD type 9A GSD type 9C GSD type IXa GSD type IXc Glycogen storage disease type 9A Glycogen storage disease type 9C Glycogen storage disease type IXa Glycogen storage disease type IXc Glycogenosis due to liver phosphorylase kinase deficiency Glycogenosis type 9A Glycogenosis type 9C Glycogenosis type IXa Glycogenosis type IXc XLG Glycogen storage disease type IXc Glycogen storage disease type IXa Glycogenosis type IXa GSD due to liver phosphorylase kinase deficiency GSD type 9C Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 Glycogenosis type 9C Glycogenosis type IXc OMIM:613027 Glycogenosis type 9A OMIM:306000 Gene [OrphaNum:159810 ; Name:Phosphorylase kinase, gamma 2 (testis) ; Symbol:PHKG2 ; xref: GENATLAS:PHKG2 ; xref: HGNC:8931 ; xref: OMIM:172471 ; xref: UNIPROTKB/SWISSPROT:P15735 ; xref: ENSEMBL:ENSG00000156873 ; xref: REACTOME:P15735] Orphanet ID- 20103 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; XLG GSD type 9A GSD type IXc Gene [OrphaNum:117793 ; Name:Phosphorylase kinase, alpha 2 (liver) ; Symbol:PHKA2 ; xref: GENATLAS:PHKA2 ; xref: HGNC:8926 ; xref: UNIPROTKB/SWISSPROT:P46019 ; xref: OMIM:300798 ; xref: REACTOME:P46019 ; xref: ENSEMBL:ENSG00000044446] GSD type IXa Glycogenosis due to liver phosphorylase kinase deficiency Glycogen storage disease type 9A Glycogen storage disease type 9C ICD10:E74.0 EXACT Glycogenosis type 9C EXACT Glycogenosis type IXa EXACT Glycogen storage disease type IXa EXACT Glycogenosis type IXc EXACT GSD type 9A EXACT Glycogenosis due to liver phosphorylase kinase deficiency EXACT XLG EXACT Glycogen storage disease type 9A EXACT Glycogen storage disease type 9C EXACT Glycogenosis type 9A EXACT Glycogen storage disease type IXc EXACT GSD type 9C EXACT GSD due to liver phosphorylase kinase deficiency EXACT GSD type IXa EXACT GSD type IXc Congenital pulmonary alveolar proteinosis Congenital PAP OMIM:614370 Gene [OrphaNum:120855 ; Name:Colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) ; Symbol:CSF2RB ; xref: GENATLAS:CSF2RB ; xref: HGNC:2436 ; xref: OMIM:138981 ; xref: UNIPROTKB/SWISSPROT:P32927 ; xref: ENSEMBL:ENSG00000100368 ; xref: REACTOME:P32927] Congenital PAP Gene [OrphaNum:118639 ; Name:Surfactant, pulmonary-associated protein B ; Symbol:SFTPB ; xref: GENATLAS:SFTPB ; xref: HGNC:10801 ; xref: OMIM:178640 ; xref: UNIPROTKB/SWISSPROT:P07988 ; xref: ENSEMBL:ENSG00000168878] OMIM:610913 Gene [OrphaNum:140560 ; Name:ATP-binding cassette, sub-family A (ABC1), member 3 ; Symbol:ABCA3 ; xref: GENATLAS:ABCA3 ; xref: HGNC:33 ; xref: OMIM:601615 ; xref: UNIPROTKB/SWISSPROT:Q99758 ; xref: REACTOME:Q99758 ; xref: ENSEMBL:ENSG00000167972] Orphanet ID- 20108 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 OMIM:610921 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:118643 ; Name:Surfactant, pulmonary-associated protein C ; Symbol:SFTPC ; xref: GENATLAS:SFTPC ; xref: HGNC:10802 ; xref: OMIM:178620 ; xref: UNIPROTKB/SWISSPROT:P11686 ; xref: ENSEMBL:ENSG00000168484] Gene [OrphaNum:209477 ; Name:Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) ; Symbol:CSF2RA ; xref: ENSEMBL:ENSG00000198223 ; xref: REACTOME:P15509 ; xref: HGNC:2435 ; xref: OMIM:306250 ; xref: GENATLAS:CSF2RA ; xref: UNIPROTKB/SWISSPROT:P15509] OMIM:265120 OMIM:300770 EXACT Congenital PAP Greig cephalopolysyndactyly syndrome GCPS prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; GCPS Orphanet ID- 2011 Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 OMIM:175700 EXACT GCPS Genetic interstitial lung disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264992 Orphanet ID- 20134 Grubben-de Cock-Borghgraef syndrome Developmental delay - hypotonia - extremities hypertrophy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2014 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 Developmental delay - hypotonia - extremities hypertrophy OMIM:233810 EXACT Developmental delay - hypotonia - extremities hypertrophy RAS-associated autoimmune lymphoproliferative disease ALPS type 4 ALPS type IV Autoimmune lymphoproliferative syndrome type 4 Autoimmune lymphoproliferative syndrome type IV RALD ALPS type IV Orphanet ID- 20165 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Autoimmune lymphoproliferative syndrome type IV RALD ALPS type 4 Autoimmune lymphoproliferative syndrome type 4 EXACT Autoimmune lymphoproliferative syndrome type IV EXACT Autoimmune lymphoproliferative syndrome type 4 EXACT ALPS type IV EXACT RALD EXACT ALPS type 4 Spheroid body myopathy Orphanet ID- 20166 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:G71.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 OMIM:182920 Classic maple syrup urine disease Classic BCKD deficiency Classic MSUD Classic branched-chain ketoacid dehydrogenase deficiency Classic branched-chain ketoaciduria Classic leucinosis Classic MSUD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 Classic BCKD deficiency Classic branched-chain ketoaciduria Orphanet ID- 20168 Classic leucinosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Classic branched-chain ketoacid dehydrogenase deficiency EXACT Classic leucinosis EXACT Classic branched-chain ketoaciduria EXACT Classic MSUD EXACT Classic BCKD deficiency EXACT Classic branched-chain ketoacid dehydrogenase deficiency Intermediate maple syrup urine disease Intermediate BCKD deficiency Intermediate MSUD Intermediate branched-chain ketoacid dehydrogenase deficiency Intermediate branched-chain ketoaciduria Intermediate leucinosis Intermediate branched-chain ketoacid dehydrogenase deficiency Intermediate leucinosis Orphanet ID- 20169 Intermediate branched-chain ketoaciduria Intermediate BCKD deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Intermediate MSUD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 EXACT Intermediate leucinosis EXACT Intermediate branched-chain ketoaciduria EXACT Intermediate branched-chain ketoacid dehydrogenase deficiency EXACT Intermediate BCKD deficiency EXACT Intermediate MSUD Intermittent maple syrup urine disease Intermittent BCKD deficiency Intermittent MSUD Intermittent branched-chain ketoacid dehydrogenase deficiency Intermittent branched-chain ketoaciduria Intermittent leucinosis Intermittent leucinosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 Orphanet ID- 20170 Intermittent branched-chain ketoacid dehydrogenase deficiency Intermittent MSUD Intermittent branched-chain ketoaciduria prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Intermittent BCKD deficiency EXACT Intermittent branched-chain ketoaciduria EXACT Intermittent branched-chain ketoacid dehydrogenase deficiency EXACT Intermittent BCKD deficiency EXACT Intermittent leucinosis EXACT Intermittent MSUD Thiamin-responsive maple syrup urine disease Thiamin-responsive BCKD deficiency Thiamin-responsive MSUD Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency Thiamin-responsive branched-chain ketoaciduria Thiamin-responsive leucinosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Thiamin-responsive leucinosis Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency Orphanet ID- 20171 Thiamin-responsive branched-chain ketoaciduria Thiamin-responsive BCKD deficiency Thiamin-responsive MSUD EXACT Thiamin-responsive MSUD EXACT Thiamin-responsive leucinosis EXACT Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency EXACT Thiamin-responsive branched-chain ketoaciduria EXACT Thiamin-responsive BCKD deficiency 21q22.13q22.2 microdeletion syndrome 21q22.13-q22.2 microdeletion syndrome Del(21)(q22.13q22.2) Monosomy 21q22.13-q22.2 Monosomy 21q22.13q22.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 Del(21)(q22.13q22.2) 21q22.13-q22.2 microdeletion syndrome ICD10:Q93.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Monosomy 21q22.13-q22.2 Monosomy 21q22.13q22.2 Orphanet ID- 20173 EXACT 21q22.13-q22.2 microdeletion syndrome EXACT Monosomy 21q22.13-q22.2 EXACT Del(21)(q22.13q22.2) EXACT Monosomy 21q22.13q22.2 Hereditary thrombocytopenia with normal platelets Orphanet ID- 20176 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322 Severe combined immunodeficiency and related disorders SCID and related disorders Orphanet ID- 20178 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268330 SCID and related disorders prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT SCID and related disorders Autosomal recessive intermediate Charcot-Marie-Tooth disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268337 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20179 Hall-Riggs syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:234250 Orphanet ID- 2018 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107 Neural tube closure defect prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20183 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357 Open iniencephaly Orphanet ID- 20184 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Closed iniencephaly prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366 Orphanet ID- 20185 Spina bifida aperta Orphanet ID- 20186 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369 Total spina bifida aperta Orphanet ID- 20187 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268377 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Thoracolumbosacral spina bifida aperta Orphanet ID- 20188 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268384 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Lumbosacral spina bifida aperta Orphanet ID- 20189 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268388 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Hallermann-Streiff-Francois syndrome François dyscephalic syndrome OMIM:234100 Orphanet ID- 2019 François dyscephalic syndrome ICD10:Q87.8 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 EXACT François dyscephalic syndrome Cervical spina bifida aperta Orphanet ID- 20190 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268392 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Cervicothoracic spina bifida aperta prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268397 Orphanet ID- 20191 Upper thoracic spina bifida aperta Orphanet ID- 20192 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268740 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Spina bifida cystica Orphanet ID- 20193 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Total spina bifida cystica Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268748 Orphanet ID- 20194 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Thoracolumbosacral spina bifida cystica prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 20195 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268752 Lumbosacral spina bifida cystica Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268758 Orphanet ID- 20196 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Cervical spina bifida cystica Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268762 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 20197 Cervicothoracic spina bifida cystica prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 20198 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268766 Upper thoracic spina bifida cystica Orphanet ID- 20199 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268770 Cystinuria Cystinuria - lysinuria Orphanet ID- 202 OMIM:220100 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:E72.0 Cystinuria - lysinuria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 EXACT Cystinuria - lysinuria Posterior meningocele Orphanet ID- 20203 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 Myelocystocele prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 20204 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 Cephalocele Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20205 Cranial meningocele Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20206 Occipital encephalocele Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 Orphanet ID- 20207 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Parietal encephalocele prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826 Orphanet ID- 20208 Basal encephalocele Orphanet ID- 20209 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829 Hallux varus - preaxial polysyndactyly Kleiner-Holmes syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110 Kleiner-Holmes syndrome OMIM:234280 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2021 EXACT Kleiner-Holmes syndrome Lipoma associated with neurospinal dysraphism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20210 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268832 Lipomyelomeningocele prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20211 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268835 Leptomyelolipoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268838 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20212 Malformation of the neurenteric canal, spinal cord and column Orphanet ID- 20214 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Primary tethered chord syndrome Primary tethered spinal cord syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861 Primary tethered spinal cord syndrome Orphanet ID- 20215 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; EXACT Primary tethered spinal cord syndrome Neurenteric cyst Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20216 Isolated amyelia prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20217 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868 Primary syringomyelia/hydromyelia Orphanet ID- 20218 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268871 Congenital hydromyelia Orphanet ID- 20219 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268874 Arnold-Chiari malformation type I Arnold-Chiari malformation type 1 Chiari malformation type 1 Chiari malformation type I Chiari malformation type 1 Arnold-Chiari malformation type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Chiari malformation type I Orphanet ID- 20220 ICD10:G95.0 OMIM:118420 EXACT Chiari malformation type 1 EXACT Chiari malformation type I EXACT Arnold-Chiari malformation type 1 Microcephaly vera MV prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20221 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268907 MV EXACT MV Microcephaly with simplified gyral pattern MSGP Orphanet ID- 20222 MSGP prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268912 EXACT MSGP Midline cerebral malformation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20224 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926 Bilateral polymicrogyria prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 Orphanet ID- 20226 Unilateral polymicrogyria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20227 Unilateral focal polymicrogyria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20228 Cerebral cortical dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 Orphanet ID- 20229 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Isolated focal cortical dysplasia type I FCD type I prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 Orphanet ID- 20231 FCD type I EXACT FCD type I Isolated focal cortical dysplasia type Ia FCD type Ia prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; FCD type Ia Orphanet ID- 20233 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 EXACT FCD type Ia Isolated focal cortical dysplasia type Ib FCD type Ib Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 Orphanet ID- 20234 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; FCD type Ib EXACT FCD type Ib Isolated focal cortical dysplasia type Ic FCD type Ic Orphanet ID- 20235 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; FCD type Ic EXACT FCD type Ic Isolated focal cortical dysplasia type II FCD type II FCD type II Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 Orphanet ID- 20236 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; EXACT FCD type II Isolated focal cortical dysplasia type IIa FCD type IIa prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 Orphanet ID- 20237 FCD type IIa EXACT FCD type IIa Isolated focal cortical dysplasia type IIb FCD type IIb Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20238 FCD type IIb EXACT FCD type IIb Encephaloclastic disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20239 Hip dysplasia, Beukes type BFHD Beukes familial hip dysplasia Cilliers-Beighton syndrome Premature degenerative osteoarthropathy of the hip BFHD OMIM:142669 Cilliers-Beighton syndrome Orphanet ID- 2024 Beukes familial hip dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q65.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 Premature degenerative osteoarthropathy of the hip EXACT Beukes familial hip dysplasia EXACT Cilliers-Beighton syndrome EXACT BFHD EXACT Premature degenerative osteoarthropathy of the hip Isolated Dandy-Walker malformation with hydrocephalus prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q03.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 Orphanet ID- 20246 Isolated Dandy-Walker malformation without hydrocephalus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 Orphanet ID- 20247 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Harrod syndrome Cranio-facio-digito-genital syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cranio-facio-digito-genital syndrome Orphanet ID- 2025 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 OMIM:601095 EXACT Cranio-facio-digito-genital syndrome Genetic nonsyndromic central nervous system malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269550 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20259 Hartsfield-Bixler-Demyer syndrome Holoprosencephaly - ectrodactyly - cleft lip palate Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Holoprosencephaly - ectrodactyly - cleft lip palate Orphanet ID- 2026 OMIM:300571 EXACT Holoprosencephaly - ectrodactyly - cleft lip palate Genetic cerebral malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269553 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20260 Genetic posterior fossa malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269557 Orphanet ID- 20261 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic cerebellar malformation Orphanet ID- 20262 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269560 Genetic syndrome with a central nervous system malformation as major feature prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20263 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269564 Genetic syndrome with a cerebellar malformation as major feature Orphanet ID- 20264 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269567 Genetic syndrome with a Dandy-Walker malformation as major feature Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269570 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20265 Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269573 Orphanet ID- 20266 Short stature - craniofacial anomalies - genital hypoplasia Haspeslagh-Fryns-Muelenaere syndrome OMIM:177980 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994 Haspeslagh-Fryns-Muelenaere syndrome Orphanet ID- 2027 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Haspeslagh-Fryns-Muelenaere syndrome 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17 ketoreductase deficiency 17 ketosteroidreductase deficiency 17-beta-hydroxysteroid dehydrogenase 3 deficiency Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency OMIM:264300 Orphanet ID- 203 ICD10:Q56.1 17-beta-hydroxysteroid dehydrogenase 3 deficiency Gene [OrphaNum:122511 ; Name:Hydroxysteroid (17-beta) dehydrogenase 3 ; Symbol:HSD17B3 ; xref: GENATLAS:HSD17B3 ; xref: HGNC:5212 ; xref: OMIM:605573 ; xref: UNIPROTKB/SWISSPROT:P37058 ; xref: ENSEMBL:ENSG00000130948 ; xref: REACTOME:P37058] 17 ketoreductase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 17 ketosteroidreductase deficiency EXACT 17-beta-hydroxysteroid dehydrogenase 3 deficiency EXACT 17 ketosteroidreductase deficiency EXACT Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency EXACT 17 ketoreductase deficiency Genetic soft tissue tumor Orphanet ID- 20300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271832 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic digestive tract tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271835 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20301 Genetic cardiac tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271841 Orphanet ID- 20303 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Genetic urogenital tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271844 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20304 Genetic endocrine tumor Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271847 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20305 Genetic cardiac anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271853 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20306 Transthyretin-related amyloidosis Orphanet ID- 20307 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare genetic systemic disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271870 Orphanet ID- 20308 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autoimmune lymphoproliferative syndrome-related disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275511 Orphanet ID- 20314 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autoimmune lymphoproliferative syndrome with recurrent infections ALPS with recurrent infections Orphanet ID- 20315 OMIM:607271 ALPS with recurrent infections Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275517 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:138851 ; Name:Caspase 8, apoptosis-related cysteine peptidase ; Symbol:CASP8 ; xref: GENATLAS:CASP8 ; xref: HGNC:1509 ; xref: OMIM:601763 ; xref: UNIPROTKB/SWISSPROT:Q14790 ; xref: ENSEMBL:ENSG00000064012 ; xref: REACTOME:Q14790] EXACT ALPS with recurrent infections Dianzani autoimmune lymphoproliferative disease DALD DALD OMIM:605233 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523 Orphanet ID- 20316 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; EXACT DALD Myostatin-related muscle hypertrophy Orphanet ID- 20317 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:279640 ; Name:Myostatin ; Symbol:MSTN ; xref: ENSEMBL:ENSG00000138379 ; xref: HGNC:4223 ; xref: OMIM:601788 ; xref: GENATLAS:MSTN ; xref: UNIPROTKB/SWISSPROT:O14793] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275534 OMIM:614160 L1 syndrome CRASH syndrome prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 Orphanet ID- 20318 CRASH syndrome EXACT CRASH syndrome Rare hemorrhagic disorder due to a constitutional thrombocytopenia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275729 Orphanet ID- 20320 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Rare hemorrhagic disorder due to a platelets receptors defect prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20321 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275736 Genetic infertility Orphanet ID- 20322 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275742 Alpha-thalassemia and related diseases Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20323 Beta-thalassemia and related diseases Orphanet ID- 20324 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749 Sickle cell disease and related diseases Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752 Orphanet ID- 20325 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lysosomal acid lipase deficiency LAL deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 LAL deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20326 EXACT LAL deficiency Idiopathic pulmonary arterial hypertension IPAH Gene [OrphaNum:189338 ; Name:SMAD family member 9 ; Symbol:SMAD9 ; xref: ENSEMBL:ENSG00000120693 ; xref: REACTOME:O15198 ; xref: GENATLAS:SMAD9 ; xref: HGNC:6774 ; xref: OMIM:603295 ; xref: UNIPROTKB/SWISSPROT:O15198] Orphanet ID- 20327 OMIM:178600 Gene [OrphaNum:117764 ; Name:Activin A receptor type II-like 1 ; Symbol:ACVRL1 ; xref: GENATLAS:ACVRL1 ; xref: HGNC:175 ; xref: OMIM:601284 ; xref: UNIPROTKB/SWISSPROT:P37023 ; xref: ENSEMBL:ENSG00000139567] Gene [OrphaNum:119057 ; Name:Bone morphogenetic protein receptor, type II (serine/threonine kinase) ; Symbol:BMPR2 ; xref: GENATLAS:BMPR2 ; xref: HGNC:1078 ; xref: OMIM:600799 ; xref: UNIPROTKB/SWISSPROT:Q13873 ; xref: REACTOME:Q13873 ; xref: ENSEMBL:ENSG00000204217] IPAH prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766 EXACT IPAH Heritable pulmonary arterial hypertension FPAH Familial pulmonary arterial hypertension Hereditary pulmonary arterial hypertension Hereditary pulmonary arterial hypertension Gene [OrphaNum:117764 ; Name:Activin A receptor type II-like 1 ; Symbol:ACVRL1 ; xref: GENATLAS:ACVRL1 ; xref: HGNC:175 ; xref: OMIM:601284 ; xref: UNIPROTKB/SWISSPROT:P37023 ; xref: ENSEMBL:ENSG00000139567] Gene [OrphaNum:189338 ; Name:SMAD family member 9 ; Symbol:SMAD9 ; xref: ENSEMBL:ENSG00000120693 ; xref: REACTOME:O15198 ; xref: GENATLAS:SMAD9 ; xref: HGNC:6774 ; xref: OMIM:603295 ; xref: UNIPROTKB/SWISSPROT:O15198] FPAH Familial pulmonary arterial hypertension Orphanet ID- 20328 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Gene [OrphaNum:171064 ; Name:Caveolin 1, caveolae protein, 22kDa ; Symbol:CAV1 ; xref: GENATLAS:CAV1 ; xref: HGNC:1527 ; xref: OMIM:601047 ; xref: UNIPROTKB/SWISSPROT:Q03135 ; xref: ENSEMBL:ENSG00000105974 ; xref: REACTOME:Q03135] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 OMIM:178600 Gene [OrphaNum:119057 ; Name:Bone morphogenetic protein receptor, type II (serine/threonine kinase) ; Symbol:BMPR2 ; xref: GENATLAS:BMPR2 ; xref: HGNC:1078 ; xref: OMIM:600799 ; xref: UNIPROTKB/SWISSPROT:Q13873 ; xref: REACTOME:Q13873 ; xref: ENSEMBL:ENSG00000204217] EXACT FPAH EXACT Familial pulmonary arterial hypertension EXACT Hereditary pulmonary arterial hypertension Hemihypertrophy Hemi 3 syndrome Hemicorporal hypertrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 Gene [OrphaNum:138711 ; Name:KCNQ1 overlapping transcript 1 (non-protein coding) ; Symbol:KCNQ1OT1 ; xref: GENATLAS:KCNQ1OT1 ; xref: HGNC:6295 ; xref: OMIM:604115 ; xref: ENSEMBL:ENSG00000258492] OMIM:235000 ICD10:Q89.8 Gene [OrphaNum:159729 ; Name:Insulin-like growth factor 2 (somatomedin A) ; Symbol:IGF2 ; xref: HGNC:5466 ; xref: OMIM:147470 ; xref: UNIPROTKB/SWISSPROT:P01344 ; xref: GENATLAS:IGF2 ; xref: ENSEMBL:ENSG00000167244 ; xref: REACTOME:P01344] Hemicorporal hypertrophy Gene [OrphaNum:123340 ; Name:H19, imprinted maternally expressed untranslated mRNA ; Symbol:H19 ; xref: GENATLAS:H19 ; xref: HGNC:4713 ; xref: OMIM:103280 ; xref: ENSEMBL:ENSG00000130600] Hemi 3 syndrome Orphanet ID- 2033 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Hemi 3 syndrome EXACT Hemicorporal hypertrophy Behavioural variant of frontotemporal dementia bv-FTD OMIM:600795 Orphanet ID- 20340 Gene [OrphaNum:118099 ; Name:Presenilin 1 ; Symbol:PSEN1 ; xref: GENATLAS:PSEN1 ; xref: HGNC:9508 ; xref: OMIM:104311 ; xref: UNIPROTKB/SWISSPROT:P49768 ; xref: REACTOME:P49768 ; xref: ENSEMBL:ENSG00000080815] OMIM:172700 Gene [OrphaNum:119407 ; Name:Chromatin modifying protein 2B ; Symbol:CHMP2B ; xref: GENATLAS:CHMP2B ; xref: HGNC:24537 ; xref: OMIM:609512 ; xref: UNIPROTKB/SWISSPROT:Q9UQN3 ; xref: ENSEMBL:ENSG00000083937 ; xref: REACTOME:Q9UQN3] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 bv-FTD OMIM:600274 Gene [OrphaNum:123144 ; Name:Microtubule-associated protein tau ; Symbol:MAPT ; xref: GENATLAS:MAPT ; xref: HGNC:6893 ; xref: OMIM:157140 ; xref: UNIPROTKB/SWISSPROT:P10636 ; xref: ENSEMBL:ENSG00000186868 ; xref: REACTOME:P10636] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; EXACT bv-FTD Frontotemporal dementia with motor neuron disease FTD-ALS FTD-MND Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporal dementia with amyotrophic lateral sclerosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 Gene [OrphaNum:168073 ; Name:Granulin ; Symbol:GRN ; xref: GENATLAS:GRN ; xref: HGNC:4601 ; xref: OMIM:138945 ; xref: UNIPROTKB/SWISSPROT:P28799 ; xref: ENSEMBL:ENSG00000030582] Gene [OrphaNum:159615 ; Name:Fusion (involved in t(12;16) in malignant liposarcoma) ; Symbol:FUS ; xref: GENATLAS:FUS ; xref: HGNC:4010 ; xref: OMIM:137070 ; xref: UNIPROTKB/SWISSPROT:P35637 ; xref: ENSEMBL:ENSG00000089280 ; xref: REACTOME:P35637] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Orphanet ID- 20341 Gene [OrphaNum:158581 ; Name:TAR DNA binding protein ; Symbol:TARDBP ; xref: ENSEMBL:ENSG00000120948 ; xref: GENATLAS:TARDBP ; xref: HGNC:11571 ; xref: OMIM:605078 ; xref: UNIPROTKB/SWISSPROT:Q13148] OMIM:612069 OMIM:608030 OMIM:105550 FTD-MND FTD-ALS Gene [OrphaNum:286546 ; Name:Chromosome 9 open reading frame 72 ; Symbol:C9ORF72 ; xref: HGNC:28337 ; xref: OMIM:614260 ; xref: GENATLAS:C9orf72 ; xref: UNIPROTKB/SWISSPROT:Q96LT7 ; xref: ENSEMBL:ENSG00000147894] EXACT FTD-ALS EXACT Frontotemporal dementia with amyotrophic lateral sclerosis EXACT FTD-MND Genetic neurodegenerative disease with dementia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20344 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276058 Genetic frontotemporal degeneration with dementia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276061 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20345 Bile acid CoA ligase deficiency and defective amidation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 Orphanet ID- 20346 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Hemimelia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130 Orphanet ID- 2035 Multiple endocrine neoplasia type 4 MEN4 MEN4 Gene [OrphaNum:200995 ; Name:Cyclin-dependent kinase inhibitor 1B (p27, Kip1) ; Symbol:CDKN1B ; xref: REACTOME:P46527 ; xref: ENSEMBL:ENSG00000111276 ; xref: GENATLAS:CDKN1B ; xref: HGNC:1785 ; xref: OMIM:600778 ; xref: UNIPROTKB/SWISSPROT:P46527] OMIM:610755 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20350 EXACT MEN4 Multiple endocrine neoplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161 Orphanet ID- 20351 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Spinocerebellar ataxia type 32 Cerebellar ataxia with azospermia and intellectual deficiency SCA32 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Cerebellar ataxia with azospermia and intellectual deficiency OMIM:613909 SCA32 Orphanet ID- 20353 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 EXACT SCA32 EXACT Cerebellar ataxia with azospermia and intellectual deficiency Spinocerebellar ataxia type 35 SCA35 Gene [OrphaNum:279644 ; Name:Transglutaminase 6 ; Symbol:TGM6 ; xref: ENSEMBL:ENSG00000166948 ; xref: HGNC:16255 ; xref: OMIM:613900 ; xref: UNIPROTKB/SWISSPROT:O95932 ; xref: GENATLAS:TGM6] SCA35 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 Orphanet ID- 20354 OMIM:613908 EXACT SCA35 Spinocerebellar ataxia type 36 SCA36 SCA36 Orphanet ID- 20355 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 Gene [OrphaNum:279649 ; Name:NOP56 ribonucleoprotein homolog (yeast) ; Symbol:NOP56 ; xref: ENSEMBL:ENSG00000101361 ; xref: REACTOME:O00567 ; xref: HGNC:15911 ; xref: OMIM:614154 ; xref: UNIPROTKB/SWISSPROT:O00567 ; xref: GENATLAS:NOL5A] OMIM:614153 EXACT SCA36 Mucopolysaccharidosis type 6, rapidly progressing MPS6, rapidly progressing MPSVI, rapidly progressing Mucopolysaccharidosis type VI, rapidly progressing Gene [OrphaNum:121429 ; Name:Arylsulfatase B ; Symbol:ARSB ; xref: ENSEMBL:ENSG00000113273 ; xref: GENATLAS:ARSB ; xref: HGNC:714 ; xref: UNIPROTKB/SWISSPROT:P15848 ; xref: OMIM:611542] Orphanet ID- 20356 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 MPSVI, rapidly progressing Mucopolysaccharidosis type VI, rapidly progressing MPS6, rapidly progressing prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Mucopolysaccharidosis type VI, rapidly progressing EXACT MPS6, rapidly progressing EXACT MPSVI, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing MPS6, slowly progressing MPSVI, slowly progressing Mucopolysaccharidosis type VI, slowly progressing prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121429 ; Name:Arylsulfatase B ; Symbol:ARSB ; xref: ENSEMBL:ENSG00000113273 ; xref: GENATLAS:ARSB ; xref: HGNC:714 ; xref: UNIPROTKB/SWISSPROT:P15848 ; xref: OMIM:611542] Mucopolysaccharidosis type VI, slowly progressing MPSVI, slowly progressing MPS6, slowly progressing Orphanet ID- 20357 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 EXACT MPS6, slowly progressing EXACT Mucopolysaccharidosis type VI, slowly progressing EXACT MPSVI, slowly progressing CATSPER1-related non syndromic male infertility Orphanet ID- 20358 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276234 OMIM:612997 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:279661 ; Name:Cation channel, sperm associated 1 ; Symbol:CATSPER1 ; xref: ENSEMBL:ENSG00000175294 ; xref: HGNC:17116 ; xref: OMIM:606389 ; xref: UNIPROTKB/SWISSPROT:Q8NEC5 ; xref: GENATLAS:CATSPER1] Machado-Joseph disease type 1 Joseph type SCA3 Orphanet ID- 20359 Gene [OrphaNum:118928 ; Name:Ataxin 3 ; Symbol:ATXN3 ; xref: OMIM:607047 ; xref: UNIPROTKB/SWISSPROT:P54252 ; xref: GENATLAS:ATXN3 ; xref: HGNC:7106 ; xref: ENSEMBL:ENSG00000066427] Joseph type SCA3 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 EXACT Joseph type SCA3 Hennekam syndrome Lymphedema - lymphangiectasia - intellectual deficit Gene [OrphaNum:220744 ; Name:Collagen and calcium binding EGF domains 1 ; Symbol:CCBE1 ; xref: ENSEMBL:ENSG00000183287 ; xref: HGNC:29426 ; xref: GENATLAS:CCBE1 ; xref: OMIM:612753 ; xref: UNIPROTKB/SWISSPROT:Q6UXH8] Lymphedema - lymphangiectasia - intellectual deficit prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 OMIM:235510 Orphanet ID- 2036 EXACT Lymphedema - lymphangiectasia - intellectual deficit Machado-Joseph disease type 2 Thomas type SCA3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 Gene [OrphaNum:118928 ; Name:Ataxin 3 ; Symbol:ATXN3 ; xref: OMIM:607047 ; xref: UNIPROTKB/SWISSPROT:P54252 ; xref: GENATLAS:ATXN3 ; xref: HGNC:7106 ; xref: ENSEMBL:ENSG00000066427] Thomas type SCA3 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20360 EXACT Thomas type SCA3 Machado-Joseph disease type 3 Machado type SCA3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 Gene [OrphaNum:118928 ; Name:Ataxin 3 ; Symbol:ATXN3 ; xref: OMIM:607047 ; xref: UNIPROTKB/SWISSPROT:P54252 ; xref: GENATLAS:ATXN3 ; xref: HGNC:7106 ; xref: ENSEMBL:ENSG00000066427] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20361 Machado type SCA3 EXACT Machado type SCA3 Xeroderma pigmentosum complementation group A Orphanet ID- 20362 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:120567 ; Name:Xeroderma pigmentosum, complementation group A ; Symbol:XPA ; xref: REACTOME:P23025 ; xref: GENATLAS:XPA ; xref: HGNC:12814 ; xref: OMIM:611153 ; xref: UNIPROTKB/SWISSPROT:P23025 ; xref: ENSEMBL:ENSG00000136936] OMIM:278700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276249 Xeroderma pigmentosum complementation group B Gene [OrphaNum:132264 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 3 ; Symbol:ERCC3 ; xref: GENATLAS:ERCC3 ; xref: HGNC:3435 ; xref: OMIM:133510 ; xref: UNIPROTKB/SWISSPROT:P19447 ; xref: ENSEMBL:ENSG00000163161 ; xref: REACTOME:P19447] Orphanet ID- 20363 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276252 OMIM:610651 Xeroderma pigmentosum complementation group C Orphanet ID- 20364 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:278720 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276255 Gene [OrphaNum:120571 ; Name:Xeroderma pigmentosum, complementation group C ; Symbol:XPC ; xref: ENSEMBL:ENSG00000154767 ; xref: REACTOME:Q01831 ; xref: GENATLAS:XPC ; xref: HGNC:12816 ; xref: UNIPROTKB/SWISSPROT:Q01831 ; xref: OMIM:613208] Xeroderma pigmentosum complementation group D OMIM:278730 Gene [OrphaNum:121590 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ; Symbol:ERCC2 ; xref: GENATLAS:ERCC2 ; xref: HGNC:3434 ; xref: OMIM:126340 ; xref: UNIPROTKB/SWISSPROT:P18074 ; xref: REACTOME:P18074 ; xref: ENSEMBL:ENSG00000104884] Orphanet ID- 20365 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276258 Xeroderma pigmentosum complementation group E Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276261 Orphanet ID- 20366 Gene [OrphaNum:121045 ; Name:Damage-specific DNA binding protein 2, 48kDa ; Symbol:DDB2 ; xref: GENATLAS:DDB2 ; xref: HGNC:2718 ; xref: OMIM:600811 ; xref: UNIPROTKB/SWISSPROT:Q92466 ; xref: ENSEMBL:ENSG00000134574 ; xref: REACTOME:Q92466] OMIM:278740 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Xeroderma pigmentosum complementation group F prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276264 OMIM:278760 Gene [OrphaNum:121595 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 4 ; Symbol:ERCC4 ; xref: GENATLAS:ERCC4 ; xref: HGNC:3436 ; xref: OMIM:133520 ; xref: UNIPROTKB/SWISSPROT:Q92889 ; xref: ENSEMBL:ENSG00000175595 ; xref: REACTOME:Q92889] Orphanet ID- 20367 Xeroderma pigmentosum complementation group G prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20368 OMIM:278780 Gene [OrphaNum:132271 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 5 ; Symbol:ERCC5 ; xref: GENATLAS:ERCC5 ; xref: HGNC:3437 ; xref: OMIM:133530 ; xref: UNIPROTKB/SWISSPROT:P28715 ; xref: ENSEMBL:ENSG00000134899 ; xref: REACTOME:P28715] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276267 Ovotesticular disorder of sex development Ovotesticular DSD True hermaphroditism Gene [OrphaNum:119792 ; Name:SRY (sex determining region Y)-box 9 ; Symbol:SOX9 ; xref: UNIPROTKB/SWISSPROT:P48436 ; xref: GENATLAS:SOX9 ; xref: HGNC:11204 ; xref: OMIM:608160 ; xref: ENSEMBL:ENSG00000125398] True hermaphroditism OMIM:400045 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Ovotesticular DSD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 ICD10:Q56.0 Orphanet ID- 2037 EXACT Ovotesticular DSD EXACT True hermaphroditism Hemihyperplasia-multiple lipomatosis syndrome HHML Orphanet ID- 20370 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; HHML Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 EXACT HHML Familial multinodular goiter Gene [OrphaNum:209285 ; Name:Dicer 1, ribonuclease type III ; Symbol:DICER1 ; xref: OMIM:606241 ; xref: UNIPROTKB/SWISSPROT:Q9UPY3 ; xref: REACTOME:Q9UPY3 ; xref: GENATLAS:DICER1 ; xref: HGNC:17098 ; xref: ENSEMBL:ENSG00000100697] OMIM:138800 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20371 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399 Hyperbiliverdinemia Green jaundice OMIM:614156 Green jaundice prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 20373 Gene [OrphaNum:281690 ; Name:Biliverdin reductase A ; Symbol:BLVRA ; xref: HGNC:1062 ; xref: OMIM:109750 ; xref: ENSEMBL:ENSG00000106605 ; xref: REACTOME:P53004 ; xref: GENATLAS:BLVRA ; xref: UNIPROTKB/SWISSPROT:P53004] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 EXACT Green jaundice Cerebral vasculopathy with early-onset stroke prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20374 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276410 10q22.3q23.3 microdeletion syndrome Del(10)(q22.3q23.3) Deletion 10q22.3q23.3 Monosomy 10q22.3q23.3 Deletion 10q22.3q23.3 Monosomy 10q22.3q23.3 ICD10:Q93.5 Orphanet ID- 20375 Del(10)(q22.3q23.3) Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Del(10)(q22.3q23.3) EXACT Monosomy 10q22.3q23.3 EXACT Deletion 10q22.3q23.3 10q22.3q23.3 microduplication syndrome Dup(10)(q22.3q23.3) Trisomy 10q22.3q23.3 ICD10:Q92.3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 20376 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422 Trisomy 10q22.3q23.3 Dup(10)(q22.3q23.3) EXACT Trisomy 10q22.3q23.3 EXACT Dup(10)(q22.3q23.3) Hernandez-Aguirre Negrete syndrome Intellectual deficit - epilepsy - bulbous nose Orphanet ID- 2038 Intellectual deficit - epilepsy - bulbous nose Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Intellectual deficit - epilepsy - bulbous nose Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome Ogden syndrome Ogden syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 Orphanet ID- 20380 Gene [OrphaNum:281695 ; Name:N(alpha)-acetyltransferase 10, NatA catalytic subunit ; Symbol:NAA10 ; xref: ENSEMBL:ENSG00000102030 ; xref: OMIM:300013 ; xref: HGNC:18704 ; xref: UNIPROTKB/SWISSPROT:P41227 ; xref: GENATLAS:ARD1A] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; OMIM:300855 EXACT Ogden syndrome Lower motor neuron syndrome with late-adult onset Orphanet ID- 20381 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Familial hyperinsulinism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20382 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276525 Hyperinsulinism due to UCP2 deficiency Hyperinsulinemic hypoglycemia due to UCP2 deficiency Hyperinsulinemic hypoglycemia due to UCP2 deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:298784 ; Name:Uncoupling protein 2 (mitochondrial, proton carrier) ; Symbol:UCP2 ; xref: HGNC:12518 ; xref: OMIM:601693 ; xref: GENATLAS:UCP2 ; xref: UNIPROTKB/SWISSPROT:P55851] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 Orphanet ID- 20383 EXACT Hyperinsulinemic hypoglycemia due to UCP2 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency OMIM:256450 Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 Orphanet ID- 20384 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:117665 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ; Symbol:ABCC8 ; xref: GENATLAS:ABCC8 ; xref: HGNC:59 ; xref: OMIM:600509 ; xref: UNIPROTKB/SWISSPROT:Q09428 ; xref: ENSEMBL:ENSG00000006071 ; xref: REACTOME:Q09428] EXACT Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:601820 Orphanet ID- 20385 Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654] EXACT Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Diazoxide-resistant hyperinsulinism Orphanet ID- 20386 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form Orphanet ID- 20387 Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form Gene [OrphaNum:117665 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ; Symbol:ABCC8 ; xref: GENATLAS:ABCC8 ; xref: HGNC:59 ; xref: OMIM:600509 ; xref: UNIPROTKB/SWISSPROT:Q09428 ; xref: ENSEMBL:ENSG00000006071 ; xref: REACTOME:Q09428] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 OMIM:256450 EXACT Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654] Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; OMIM:601820 Orphanet ID- 20388 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 EXACT Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia NI-PHH Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 20389 NI-PHH EXACT NI-PHH Symptomatic form of Coffin-Lowry syndrome in female carriers Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 Orphanet ID- 20393 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Watson syndrome Pulmonic stenosis with 'cafe-au-lait' spots Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3444 Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712] OMIM:193520 ICD10:Q87.1 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Pulmonic stenosis with 'cafe-au-lait' spots Orphanet ID- 204 EXACT Pulmonic stenosis with 'cafe-au-lait' spots Diaphragmatic defect - limb deficiency - skull defect Froster-Huch syndrome Froster-Huch syndrome OMIM:601163 Orphanet ID- 2040 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Froster-Huch syndrome Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 OMIM:251880 Orphanet ID- 20419 Gene [OrphaNum:121059 ; Name:Deoxyguanosine kinase ; Symbol:DGUOK ; xref: GENATLAS:DGUOK ; xref: HGNC:2858 ; xref: OMIM:601465 ; xref: UNIPROTKB/SWISSPROT:Q16854 ; xref: REACTOME:Q16854 ; xref: ENSEMBL:ENSG00000114956] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Hereditary neutrophilia Orphanet ID- 20420 OMIM:162830 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279943 Gene [OrphaNum:159476 ; Name:Colony stimulating factor 3 receptor (granulocyte) ; Symbol:CSF3R ; xref: GENATLAS:CSF3R ; xref: HGNC:2439 ; xref: OMIM:138971 ; xref: UNIPROTKB/SWISSPROT:Q99062 ; xref: ENSEMBL:ENSG00000119535] prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; CDG syndrome type Ip CDG syndrome type 1P CDG1P Carbohydrate deficient glycoprotein syndrome type Ip Congenital disorder of glycosylation type 1p Congenital disorder of glycosylation type Ip CDG syndrome type 1P Congenital disorder of glycosylation type 1p Carbohydrate deficient glycoprotein syndrome type Ip prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; CDG1P Congenital disorder of glycosylation type Ip Orphanet ID- 20425 Gene [OrphaNum:280090 ; Name:Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) ; Symbol:ALG11 ; xref: ENSEMBL:ENSG00000253710 ; xref: HGNC:32456 ; xref: OMIM:613666 ; xref: GENATLAS:ALG11 ; xref: GENATLAS:Q2TAA5] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 OMIM:613661 EXACT Congenital disorder of glycosylation type 1p EXACT Congenital disorder of glycosylation type Ip EXACT CDG syndrome type 1P EXACT CDG1P EXACT Carbohydrate deficient glycoprotein syndrome type Ip Donnai-Barrow syndrome DBS/FOAR syndrome FOAR syndrome Facio-oculo-acoustico-renal syndrome Holmes-Schepens syndrome Facio-oculo-acoustico-renal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 ICD10:Q87.8 Gene [OrphaNum:159747 ; Name:Low density lipoprotein-related protein 2 ; Symbol:LRP2 ; xref: GENATLAS:LRP2 ; xref: HGNC:6694 ; xref: OMIM:600073 ; xref: UNIPROTKB/SWISSPROT:P98164 ; xref: ENSEMBL:ENSG00000081479 ; xref: REACTOME:P98164] DBS/FOAR syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; FOAR syndrome OMIM:222448 Orphanet ID- 2043 Holmes-Schepens syndrome EXACT DBS/FOAR syndrome EXACT Facio-oculo-acoustico-renal syndrome EXACT Holmes-Schepens syndrome EXACT FOAR syndrome Complement component 3 deficiency C3 deficiency OMIM:613779 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280133 Gene [OrphaNum:160064 ; Name:Complement component 3 ; Symbol:C3 ; xref: GENATLAS:C3 ; xref: HGNC:1318 ; xref: OMIM:120700 ; xref: UNIPROTKB/SWISSPROT:P01024 ; xref: REACTOME:P01024 ; xref: ENSEMBL:ENSG00000125730] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; C3 deficiency Orphanet ID- 20430 EXACT C3 deficiency Severe combined immunodeficiency due to LCK deficiency SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency Gene [OrphaNum:280151 ; Name:Lymphocyte-specific protein tyrosine kinase ; Symbol:LCK ; xref: ENSEMBL:ENSG00000182866 ; xref: REACTOME:P06239 ; xref: HGNC:6524 ; xref: OMIM:153390 ; xref: GENATLAS:LCK ; xref: UNIPROTKB/SWISSPROT:P06239] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 20431 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280142 SCID due to lymphocyte-specific protein tyrosine kinase deficiency SCID due to LCK deficiency Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency EXACT SCID due to lymphocyte-specific protein tyrosine kinase deficiency EXACT SCID due to LCK deficiency EXACT Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Methylmalonic acidemia, TCb1R type Methylmalonic acidemia, TCbIR type Orphanet ID- 20433 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 OMIM:613646 Methylmalonic acidemia, TCb1R type Gene [OrphaNum:280190 ; Name:CD320 molecule ; Symbol:CD320 ; xref: ENSEMBL:ENSG00000167775 ; xref: GENATLAS:CD320 ; xref: UNIPROTKB/SWISSPROT:Q9NPF0 ; xref: HGNC:16692 ; xref: OMIM:606475] Methylmalonic acidemia, TCbIR type EXACT Methylmalonic acidemia, TCbIR type EXACT Methylmalonic acidemia, TCb1R type Septopreoptic holoprosencephaly Septopreoptic HPE Gene [OrphaNum:285758 ; Name:Growth arrest-specific 1 ; Symbol:GAS1 ; xref: GENATLAS:GAS1 ; xref: HGNC:4165 ; xref: UNIPROTKB/SWISSPROT:P54826 ; xref: OMIM:139185 ; xref: ENSEMBL:ENSG00000180447] Septopreoptic HPE Gene [OrphaNum:281953 ; Name:Delta-like 1 (Drosophila) ; Symbol:DLL1 ; xref: ENSEMBL:ENSG00000198719 ; xref: REACTOME:O00548 ; xref: HGNC:2908 ; xref: OMIM:606582 ; xref: GENATLAS:DLL1 ; xref: UNIPROTKB/SWISSPROT:O00548] Orphanet ID- 20435 OMIM:236100 Gene [OrphaNum:159600 ; Name:Forkhead box H1 ; Symbol:FOXH1 ; xref: GENATLAS:FOXH1 ; xref: HGNC:3814 ; xref: OMIM:603621 ; xref: UNIPROTKB/SWISSPROT:O75593 ; xref: ENSEMBL:ENSG00000160973 ; xref: REACTOME:O75593] Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Gene [OrphaNum:120072 ; Name:TGFB-induced factor homeobox 1 ; Symbol:TGIF1 ; xref: GENATLAS:TGIF1 ; xref: HGNC:11776 ; xref: OMIM:602630 ; xref: UNIPROTKB/SWISSPROT:Q15583 ; xref: ENSEMBL:ENSG00000177426] Gene [OrphaNum:138518 ; Name:Teratocarcinoma-derived growth factor 1 ; Symbol:TDGF1 ; xref: GENATLAS:TDGF1 ; xref: HGNC:11701 ; xref: OMIM:187395 ; xref: UNIPROTKB/SWISSPROT:P13385 ; xref: ENSEMBL:ENSG00000241186 ; xref: REACTOME:P13385] Gene [OrphaNum:120610 ; Name:Zic family member 2 (odd-paired homolog, Drosophila) ; Symbol:ZIC2 ; xref: GENATLAS:ZIC2 ; xref: HGNC:12873 ; xref: OMIM:603073 ; xref: UNIPROTKB/SWISSPROT:O95409 ; xref: ENSEMBL:ENSG00000043355] Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920] Gene [OrphaNum:279776 ; Name:Cdon homolog (mouse) ; Symbol:CDON ; xref: ENSEMBL:ENSG00000064309 ; xref: REACTOME:Q4KMG0 ; xref: HGNC:17104 ; xref: OMIM:608707 ; xref: UNIPROTKB/SWISSPROT:Q4KMG0 ; xref: GENATLAS:CDON] Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047] Gene [OrphaNum:242325 ; Name:Dispatched homolog 1 (Drosophila) ; Symbol:DISP1 ; xref: GENATLAS:DISP1 ; xref: HGNC:19711 ; xref: OMIM:607502 ; xref: ENSEMBL:ENSG00000154309 ; xref: UNIPROTKB/SWISSPROT:Q96F81] EXACT Septopreoptic HPE Microform holoprosencephaly Microform HPE Orphanet ID- 20436 Gene [OrphaNum:281953 ; Name:Delta-like 1 (Drosophila) ; Symbol:DLL1 ; xref: ENSEMBL:ENSG00000198719 ; xref: REACTOME:O00548 ; xref: HGNC:2908 ; xref: OMIM:606582 ; xref: GENATLAS:DLL1 ; xref: UNIPROTKB/SWISSPROT:O00548] Gene [OrphaNum:120610 ; Name:Zic family member 2 (odd-paired homolog, Drosophila) ; Symbol:ZIC2 ; xref: GENATLAS:ZIC2 ; xref: HGNC:12873 ; xref: OMIM:603073 ; xref: UNIPROTKB/SWISSPROT:O95409 ; xref: ENSEMBL:ENSG00000043355] Gene [OrphaNum:138516 ; Name:GLI-Kruppel family member GLI2 ; Symbol:GLI2 ; xref: GENATLAS:GLI2 ; xref: HGNC:4318 ; xref: OMIM:165230 ; xref: UNIPROTKB/SWISSPROT:P10070 ; xref: ENSEMBL:ENSG00000074047] Gene [OrphaNum:285758 ; Name:Growth arrest-specific 1 ; Symbol:GAS1 ; xref: GENATLAS:GAS1 ; xref: HGNC:4165 ; xref: UNIPROTKB/SWISSPROT:P54826 ; xref: OMIM:139185 ; xref: ENSEMBL:ENSG00000180447] Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] Gene [OrphaNum:120072 ; Name:TGFB-induced factor homeobox 1 ; Symbol:TGIF1 ; xref: GENATLAS:TGIF1 ; xref: HGNC:11776 ; xref: OMIM:602630 ; xref: UNIPROTKB/SWISSPROT:Q15583 ; xref: ENSEMBL:ENSG00000177426] Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083] OMIM:236100 Gene [OrphaNum:138518 ; Name:Teratocarcinoma-derived growth factor 1 ; Symbol:TDGF1 ; xref: GENATLAS:TDGF1 ; xref: HGNC:11701 ; xref: OMIM:187395 ; xref: UNIPROTKB/SWISSPROT:P13385 ; xref: ENSEMBL:ENSG00000241186 ; xref: REACTOME:P13385] Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920] Gene [OrphaNum:281884 ; Name:Nodal homolog (mouse) ; Symbol:NODAL ; xref: ENSEMBL:ENSG00000156574 ; xref: REACTOME:Q96S42 ; xref: HGNC:7865 ; xref: OMIM:601265 ; xref: GENATLAS:NODAL ; xref: UNIPROTKB/SWISSPROT:Q96S42] Gene [OrphaNum:279776 ; Name:Cdon homolog (mouse) ; Symbol:CDON ; xref: ENSEMBL:ENSG00000064309 ; xref: REACTOME:Q4KMG0 ; xref: HGNC:17104 ; xref: OMIM:608707 ; xref: UNIPROTKB/SWISSPROT:Q4KMG0 ; xref: GENATLAS:CDON] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Multigenic/multifactorial; Microform HPE Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 Gene [OrphaNum:242325 ; Name:Dispatched homolog 1 (Drosophila) ; Symbol:DISP1 ; xref: GENATLAS:DISP1 ; xref: HGNC:19711 ; xref: OMIM:607502 ; xref: ENSEMBL:ENSG00000154309 ; xref: UNIPROTKB/SWISSPROT:Q96F81] Gene [OrphaNum:159600 ; Name:Forkhead box H1 ; Symbol:FOXH1 ; xref: GENATLAS:FOXH1 ; xref: HGNC:3814 ; xref: OMIM:603621 ; xref: UNIPROTKB/SWISSPROT:O75593 ; xref: ENSEMBL:ENSG00000160973 ; xref: REACTOME:O75593] EXACT Microform HPE Laryngo-tracheo-esophageal cleft type 0 LTEC0 LTEC0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 prevalence- Unknown; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20437 EXACT LTEC0 Pelizaeus-Merzbacher disease, connatal form Type II connatal Pelizaeus-Merzbacher disease connatal PMD severe PMD Type II connatal Pelizaeus-Merzbacher disease prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- X-linked recessive; connatal PMD Orphanet ID- 20438 Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 severe PMD EXACT connatal PMD EXACT severe PMD EXACT Type II connatal Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease, classic form classic PMD classic PMD Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 Orphanet ID- 20439 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- X-linked recessive; EXACT classic PMD Craniosynostosis, Herrmann-Opitz type Orphanet ID- 2044 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pelizaeus-Merzbacher disease, transitional form Transitional PMD Orphanet ID- 20440 Transitional PMD prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560] EXACT Transitional PMD Pelizaeus-Merzbacher disease in female carriers Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560] Orphanet ID- 20441 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 Null syndrome PLP1 null syndrome Pelizaeus-Merzbacher disease, null syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 Orphanet ID- 20442 Pelizaeus-Merzbacher disease, null syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive; Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560] PLP1 null syndrome EXACT Pelizaeus-Merzbacher disease, null syndrome EXACT PLP1 null syndrome Pure spastic paraplegia type 2 Pure SPG2 Uncomplicated SPG2 Uncomplicated spastic paraplegia type 2 Uncomplicated SPG2 Pure SPG2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked recessive; Orphanet ID- 20443 Uncomplicated spastic paraplegia type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280239 Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560] EXACT Uncomplicated SPG2 EXACT Uncomplicated spastic paraplegia type 2 EXACT Pure SPG2 Complicated spastic paraplegia type 2 Complicated SPG2 Complicated SPG2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280248 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive; Orphanet ID- 20444 Gene [OrphaNum:117894 ; Name:Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) ; Symbol:PLP1 ; xref: GENATLAS:PLP1 ; xref: HGNC:9086 ; xref: OMIM:300401 ; xref: UNIPROTKB/SWISSPROT:P60201 ; xref: ENSEMBL:ENSG00000123560] EXACT Complicated SPG2 Pelizaeus-Merzbacher-like disease Orphanet ID- 20445 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pelizaeus-Merzbacher-like due to GJC2 mutation PMLD1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 OMIM:608804 Orphanet ID- 20447 Gene [OrphaNum:122110 ; Name:Gap junction protein, gamma 2, 47kDa ; Symbol:GJC2 ; xref: GENATLAS:GJC2 ; xref: HGNC:17494 ; xref: OMIM:608803 ; xref: UNIPROTKB/SWISSPROT:Q5T442 ; xref: REACTOME:Q5T442 ; xref: ENSEMBL:ENSG00000198835] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; PMLD1 EXACT PMLD1 Pelizaeus-Merzbacher-like due to HSPD1 mutation Mitochondrial HSP60 chaperonopathy Mitochondrial HSP60 chaperonopathy Gene [OrphaNum:122542 ; Name:Heat shock 60kDa protein 1 (chaperonin) ; Symbol:HSPD1 ; xref: GENATLAS:HSPD1 ; xref: HGNC:5261 ; xref: OMIM:118190 ; xref: UNIPROTKB/SWISSPROT:P10809 ; xref: ENSEMBL:ENSG00000144381 ; xref: REACTOME:P10809] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:612233 Orphanet ID- 20448 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 EXACT Mitochondrial HSP60 chaperonopathy Pelizaeus-Merzbacher-like due to AIMP1 mutation prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:260600 Orphanet ID- 20449 Gene [OrphaNum:258625 ; Name:Aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 ; Symbol:AIMP1 ; xref: ENSEMBL:ENSG00000164022 ; xref: REACTOME:Q12904 ; xref: OMIM:603605 ; xref: HGNC:10648 ; xref: GENATLAS:AIMP1 ; xref: UNIPROTKB/SWISSPROT:Q12904] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 Pelizaeus-Merzbacher-like due to SLC16A2 mutation prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280296 Gene [OrphaNum:118746 ; Name:Solute carrier family 16, member 2 (monocarboxylic acid transporter 8) ; Symbol:SLC16A2 ; xref: GENATLAS:SLC16A2 ; xref: HGNC:10923 ; xref: OMIM:300095 ; xref: UNIPROTKB/SWISSPROT:P36021 ; xref: ENSEMBL:ENSG00000147100] Orphanet ID- 20450 Distal monosomy 12p Distal deletion 12p Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325 Distal deletion 12p ICD10:Q93.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 20454 EXACT Distal deletion 12p Autosomal recessive limb-girdle muscular dystrophy - dystroglycanopathy type C7 MDDGC7 MDDGC7 Orphanet ID- 20455 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 Gene [OrphaNum:280347 ; Name:Dystroglycan 1 (dystrophin-associated glycoprotein 1) ; Symbol:DAG1 ; xref: ENSEMBL:ENSG00000173402 ; xref: HGNC:2666 ; xref: OMIM:128239 ; xref: GENATLAS:DAG1 ; xref: UNIPROTKB/SWISSPROT:Q14118] OMIM:613818 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT MDDGC7 Familial partial lipodystrophy associated with PLIN1 mutations Orphanet ID- 20458 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:280360 ; Name:Perilipin 1 ; Symbol:PLIN1 ; xref: ENSEMBL:ENSG00000166819 ; xref: REACTOME:O60240 ; xref: HGNC:9076 ; xref: OMIM:170290 ; xref: GENATLAS:PLIN1 ; xref: UNIPROTKB/SWISSPROT:O60240] OMIM:613877 Nodular neuronal heterotopia ICD10:Q04.8 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; Orphanet ID- 2046 OMIM:612881 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 OMIM:608097 OMIM:300049 OMIM:608098 Autosomal codominant severe lipodystrophic laminopathy prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 Orphanet ID- 20460 Erythropoietic uroporphyria associated with myeloid malignancy Orphanet ID- 20463 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Recessive intellectual disability - motor dysfunction - multiple joint contractures IDMDC IDMDC Orphanet ID- 20465 Gene [OrphaNum:280390 ; Name:ER lipid raft associated 2 ; Symbol:ERLIN2 ; xref: ENSEMBL:ENSG00000147475 ; xref: HGNC:1356 ; xref: OMIM:611605 ; xref: GENATLAS:ERLIN2 ; xref: UNIPROTKB/SWISSPROT:O94905] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT IDMDC Familial omphalocele syndrome with facial dysmorphism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20469 Lissencephaly type 1 due to doublecortin gene mutation X-linked lissencephaly type 1 X-linked lissencephaly type 1 Orphanet ID- 2047 Gene [OrphaNum:121038 ; Name:Doublecortin ; Symbol:DCX ; xref: GENATLAS:DCX ; xref: HGNC:2714 ; xref: OMIM:300121 ; xref: UNIPROTKB/SWISSPROT:O43602 ; xref: ENSEMBL:ENSG00000077279 ; xref: REACTOME:O43602] OMIM:300067 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 EXACT X-linked lissencephaly type 1 Familial steroid-resistant nephrotic syndrome with sensorineural deafness prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Orphanet ID- 20470 OMIM:614650 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 Gene [OrphaNum:280409 ; Name:Coenzyme Q6 homolog, monooxygenase (S. cerevisiae) ; Symbol:COQ6 ; xref: ENSEMBL:ENSG00000119723 ; xref: OMIM:614647 ; xref: HGNC:20233 ; xref: GENATLAS:COQ6 ; xref: UNIPROTKB/SWISSPROT:Q9Y2Z9] Fatal infantile hypertonic myofibrillar myopathy Alpha-B crystallin-related myofibrillar myopathy Alpha-B crystallin-related myofibrillar myopathy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:120832 ; Name:Crystallin, alpha B ; Symbol:CRYAB ; xref: GENATLAS:CRYAB ; xref: HGNC:2389 ; xref: OMIM:123590 ; xref: UNIPROTKB/SWISSPROT:P02511 ; xref: ENSEMBL:ENSG00000109846] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 Orphanet ID- 20472 OMIM:613869 EXACT Alpha-B crystallin-related myofibrillar myopathy Warsaw breakage syndrome WABS Gene [OrphaNum:280563 ; Name:DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 ; Symbol:DDX11 ; xref: ENSEMBL:ENSG00000013573 ; xref: REACTOME:Q96FC9 ; xref: HGNC:2736 ; xref: OMIM:601150 ; xref: GENATLAS:DDX11 ; xref: UNIPROTKB/SWISSPROT:Q96FC9] WABS OMIM:613398 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20473 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 EXACT WABS Rapidly progressive glomerulonephritis Crescentic glomerulonephritis RPGN prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280569 Crescentic glomerulonephritis RPGN Orphanet ID- 20475 EXACT Crescentic glomerulonephritis EXACT RPGN Nestor-Guillermo progeria syndrome NGPS Gene [OrphaNum:280581 ; Name:Barrier to autointegration factor 1 ; Symbol:BANF1 ; xref: ENSEMBL:ENSG00000175334 ; xref: REACTOME:O75531 ; xref: HGNC:17397 ; xref: OMIM:603811 ; xref: GENATLAS:BANF1 ; xref: UNIPROTKB/SWISSPROT:O75531] Orphanet ID- 20476 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:614008 NGPS EXACT NGPS Chondrodysplasia with joint dislocations, gPAPP type gPAPP deficiency Gene [OrphaNum:280591 ; Name:Inositol monophosphatase domain containing 1 ; Symbol:IMPAD1 ; xref: ENSEMBL:ENSG00000104331 ; xref: HGNC:26019 ; xref: OMIM:614010 ; xref: GENATLAS:IMPAD1 ; xref: UNIPROTKB/SWISSPROT:Q9NX62] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; gPAPP deficiency Orphanet ID- 20478 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 OMIM:614078 EXACT gPAPP deficiency Hereditary sensorimotor neuropathy with hyperelastic skin Orphanet ID- 20480 Gene [OrphaNum:121746 ; Name:Fibulin 5 ; Symbol:FBLN5 ; xref: GENATLAS:FBLN5 ; xref: HGNC:3602 ; xref: OMIM:604580 ; xref: UNIPROTKB/SWISSPROT:Q9UBX5 ; xref: ENSEMBL:ENSG00000140092] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Hemoglobinopathy Toms River Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Gene [OrphaNum:233186 ; Name:Hemoglobin, gamma G ; Symbol:HBG2 ; xref: ENSEMBL:ENSG00000196565 ; xref: REACTOME:P69892 ; xref: HGNC:4832 ; xref: GENATLAS:HBG2 ; xref: UNIPROTKB/SWISSPROT:P69892 ; xref: OMIM:142250] OMIM:613977 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20481 Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 EXACT Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Progressive myoclonic epilepsy type 6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:280623 ; Name:Golgi SNAP receptor complex member 2 ; Symbol:GOSR2 ; xref: ENSEMBL:ENSG00000108433 ; xref: REACTOME:O14653 ; xref: HGNC:4431 ; xref: OMIM:604027 ; xref: GENATLAS:GOSR2 ; xref: UNIPROTKB/SWISSPROT:O14653] OMIM:614018 Orphanet ID- 20482 Familial progressive hyper- and hypopigmentation FPHH FPHH Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 Orphanet ID- 20484 Gene [OrphaNum:201509 ; Name:KIT ligand ; Symbol:KITLG ; xref: ENSEMBL:ENSG00000049130 ; xref: REACTOME:P21583 ; xref: GENATLAS:KITLG ; xref: HGNC:6343 ; xref: OMIM:184745 ; xref: UNIPROTKB/SWISSPROT:P21583] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT FPHH Multiple congenital anomalies - hypotonia - seizures syndrome Orphanet ID- 20486 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 OMIM:614080 Gene [OrphaNum:280636 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class N ; Symbol:PIGN ; xref: REACTOME:O95427 ; xref: ENSEMBL:ENSG00000197563 ; xref: HGNC:8967 ; xref: OMIM:606097 ; xref: GENATLAS:PIGN ; xref: UNIPROTKB/SWISSPROT:O95427] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Occipital pachygyria and polymicrogyria Occipital MCD Occipital malformations of cortical development prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Occipital MCD Orphanet ID- 20488 Gene [OrphaNum:280647 ; Name:Laminin, gamma 3 ; Symbol:LAMC3 ; xref: ENSEMBL:ENSG00000050555 ; xref: REACTOME:Q9Y6N6 ; xref: HGNC:6494 ; xref: OMIM:604349 ; xref: GENATLAS:LAMC3 ; xref: UNIPROTKB/SWISSPROT:Q9Y6N6] Occipital malformations of cortical development OMIM:614115 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 EXACT Occipital malformations of cortical development EXACT Occipital MCD Acrodysostosis with multiple hormone resistance Orphanet ID- 20490 Gene [OrphaNum:118010 ; Name:Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) ; Symbol:PRKAR1A ; xref: GENATLAS:PRKAR1A ; xref: HGNC:9388 ; xref: OMIM:188830 ; xref: UNIPROTKB/SWISSPROT:P10644 ; xref: ENSEMBL:ENSG00000108946 ; xref: REACTOME:P10644] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:614613 OMIM:101800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280651 Gene [OrphaNum:299630 ; Name:Phosphodiesterase 4D, cAMP-specific ; Symbol:PDE4D ; xref: GENATLAS:PDE4D ; xref: HGNC:8783 ; xref: OMIM:600129 ; xref: UNIPROTKB/SWISSPROT:Q08499] Autosomal recessive nail dysplasia OMIM:614157 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20491 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 Gene [OrphaNum:280659 ; Name:Frizzled family receptor 6 ; Symbol:FZD6 ; xref: ENSEMBL:ENSG00000164930 ; xref: IUPHAR:234 ; xref: REACTOME:O60353 ; xref: HGNC:4044 ; xref: OMIM:603409 ; xref: GENATLAS:FZD6 ; xref: UNIPROTKB/SWISSPROT:O60353] Hermansky-Pudlak syndrome type 9 HPS9 Orphanet ID- 20493 Gene [OrphaNum:280669 ; Name:Pallidin homolog (mouse) ; Symbol:PLDN ; xref: ENSEMBL:ENSG00000104164 ; xref: REACTOME:Q9UL45 ; xref: HGNC:8549 ; xref: OMIM:604310 ; xref: GENATLAS:PLDN ; xref: UNIPROTKB/SWISSPROT:Q9UL45] HPS9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280663 OMIM:614171 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT HPS9 Congenital muscular dystrophy due to phosphatidyl choline biosynthesis defect Orphanet ID- 20495 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:602541 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 Gene [OrphaNum:280675 ; Name:Choline kinase beta ; Symbol:CHKB ; xref: ENSEMBL:ENSG00000100288 ; xref: HGNC:1938 ; xref: OMIM:612395 ; xref: GENATLAS:CHKB ; xref: UNIPROTKB/SWISSPROT:Q9Y259] Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism Syndromic Moyamoya disease Gene [OrphaNum:268795 ; Name:BRCA1/BRCA2-containing complex, subunit 3 ; Symbol:BRCC3 ; xref: ENSEMBL:ENSG00000185515 ; xref: HGNC:24185 ; xref: OMIM:300617 ; xref: GENATLAS:BRCC3 ; xref: UNIPROTKB/SWISSPROT:P46736] prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 Syndromic Moyamoya disease Orphanet ID- 20497 OMIM:300845 EXACT Syndromic Moyamoya disease Severe intellectual deficit and progressive spastic paraplegia AP4 deficiency syndrome Gene [OrphaNum:270045 ; Name:adaptor-related protein complex 4, epsilon 1 subunit ; Symbol:AP4E1 ; xref: UNIPROTKB/SWISSPROT:Q9UPM8 ; xref: HGNC:573 ; xref: OMIM:607244 ; xref: GENATLAS:AP4E1 ; xref: ENSEMBL:ENSG00000081014 ; xref: REACTOME:Q9UPM8] OMIM:612936 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 OMIM:614066 Gene [OrphaNum:270052 ; Name:adaptor-related protein complex 4, sigma 1 subunit ; Symbol:AP4S1 ; xref: HGNC:575 ; xref: OMIM:607243 ; xref: GENATLAS:AP4S1 ; xref: UNIPROTKB/SWISSPROT:Q9Y587 ; xref: ENSEMBL:ENSG00000100478] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:270048 ; Name:adaptor-related protein complex 4, beta 1 subunit ; Symbol:AP4B1 ; xref: ENSEMBL:ENSG00000134262 ; xref: REACTOME:Q9Y6B7 ; xref: HGNC:572 ; xref: OMIM:607245 ; xref: GENATLAS:AP4B1 ; xref: UNIPROTKB/SWISSPROT:Q9Y6B7] OMIM:614067 Gene [OrphaNum:212921 ; Name:Adaptor-related protein complex 4, mu 1 subunit ; Symbol:AP4M1 ; xref: ENSEMBL:ENSG00000221838 ; xref: GENATLAS:AP4M1 ; xref: HGNC:574 ; xref: OMIM:602296 ; xref: UNIPROTKB/SWISSPROT:O00189] AP4 deficiency syndrome Orphanet ID- 20498 OMIM:613744 EXACT AP4 deficiency syndrome Fibrodysplasia ossificans progressiva FOP Man of stone Myositis ossificans progressiva Orphanet ID- 205 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 Man of stone Gene [OrphaNum:117759 ; Name:Activin A receptor, type I ; Symbol:ACVR1 ; xref: GENATLAS:ACVR1 ; xref: HGNC:171 ; xref: OMIM:102576 ; xref: UNIPROTKB/SWISSPROT:Q04771 ; xref: ENSEMBL:ENSG00000115170] Myositis ossificans progressiva ICD10:M61.1 OMIM:135100 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; FOP EXACT Man of stone EXACT FOP EXACT Myositis ossificans progressiva Hirschsprung disease - type D brachydactyly Orphanet ID- 2050 OMIM:306980 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 ICD10:Q43.1 Intralobar congenital pulmonary sequestration Congenital intrapulmonary sequestration Intralobar congenital bronchopulmonary sequestration Orphanet ID- 20503 Intralobar congenital bronchopulmonary sequestration Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802 Congenital intrapulmonary sequestration prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Intralobar congenital bronchopulmonary sequestration EXACT Congenital intrapulmonary sequestration Extralobar congenital pulmonary sequestration Congenital extrapulmonary sequestration Extralobar congenital bronchopulmonary sequestration prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20504 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811 Extralobar congenital bronchopulmonary sequestration Congenital extrapulmonary sequestration EXACT Extralobar congenital bronchopulmonary sequestration EXACT Congenital extrapulmonary sequestration Communicating congenital bronchopulmonary-foregut malformation Orphanet ID- 20505 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital pulmonary airway malformation, type 0 CPAM type 0 CPAM type 0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827 Orphanet ID- 20506 EXACT CPAM type 0 Congenital pulmonary airway malformation, type 1 CPAM type 1 Type I CCAM prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Type I CCAM Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832 Orphanet ID- 20507 CPAM type 1 EXACT CPAM type 1 EXACT Type I CCAM Congenital pulmonary airway malformation, type 2 CPAM type 2 Type II CCAM Type II CCAM Orphanet ID- 20508 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; CPAM type 2 EXACT CPAM type 2 EXACT Type II CCAM Congenital pulmonary airway malformation, type 3 CPAM type 3 Type III CCAM prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Type III CCAM CPAM type 3 Orphanet ID- 20509 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847 EXACT CPAM type 3 EXACT Type III CCAM Mowat-Wilson syndrome Hirschsprung disease - intellectual deficit Hirschsprung disease - intellectual deficit prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2051 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 Gene [OrphaNum:120593 ; Name:Zinc finger E-box binding homeobox 2 ; Symbol:ZEB2 ; xref: GENATLAS:ZEB2 ; xref: HGNC:14881 ; xref: OMIM:605802 ; xref: UNIPROTKB/SWISSPROT:O60315 ; xref: ENSEMBL:ENSG00000169554] OMIM:235730 ICD10:Q43.1 EXACT Hirschsprung disease - intellectual deficit Congenital pulmonary airway malformation, type 4 CPAM type 4 Orphanet ID- 20510 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854 CPAM type 4 EXACT CPAM type 4 Hirschsprung disease - nail hypoplasia - dysmorphism Al Gazali-Donnai-Muller syndrome Al Gazali-Donnai-Muller syndrome OMIM:235760 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 ICD10:Q43.1 Orphanet ID- 2052 EXACT Al Gazali-Donnai-Muller syndrome Inherited ichthyosis nonsyndromic form Orphanet ID- 20523 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082 Inherited ichthyosis syndromic form Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085 Orphanet ID- 20524 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromic X-linked ichthyosis Syndromic RXLI Syndromic recessive X-linked ichthyosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 Syndromic recessive X-linked ichthyosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 20525 Syndromic RXLI EXACT Syndromic recessive X-linked ichthyosis EXACT Syndromic RXLI Autosomal recessive congenital ichthyosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20526 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 Keratinopathic ichthyosis Orphanet ID- 20527 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103 Self-healing collodion baby SHCB prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; SHCB Gene [OrphaNum:120076 ; Name:Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) ; Symbol:TGM1 ; xref: GENATLAS:TGM1 ; xref: HGNC:11777 ; xref: OMIM:190195 ; xref: UNIPROTKB/SWISSPROT:P22735 ; xref: ENSEMBL:ENSG00000092295] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 OMIM:242300 Gene [OrphaNum:119635 ; Name:Arachidonate 12-lipoxygenase, 12R type ; Symbol:ALOX12B ; xref: GENATLAS:ALOX12B ; xref: HGNC:430 ; xref: OMIM:603741 ; xref: UNIPROTKB/SWISSPROT:O75342 ; xref: ENSEMBL:ENSG00000179477] Gene [OrphaNum:119637 ; Name:Arachidonate lipoxygenase 3 ; Symbol:ALOXE3 ; xref: HGNC:13743 ; xref: OMIM:607206 ; xref: UNIPROTKB/SWISSPROT:Q9BYJ1 ; xref: GENATLAS:ALOXE3 ; xref: ENSEMBL:ENSG00000179148] Orphanet ID- 20528 EXACT SHCB Acral self-healing collodion baby Acral SHCB Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Acral SHCB Orphanet ID- 20529 Gene [OrphaNum:120076 ; Name:Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) ; Symbol:TGM1 ; xref: GENATLAS:TGM1 ; xref: HGNC:11777 ; xref: OMIM:190195 ; xref: UNIPROTKB/SWISSPROT:P22735 ; xref: ENSEMBL:ENSG00000092295] EXACT Acral SHCB Annular epidermolytic ichthyosis AEI Gene [OrphaNum:122891 ; Name:Keratin 10 ; Symbol:KRT10 ; xref: GENATLAS:KRT10 ; xref: HGNC:6413 ; xref: OMIM:148080 ; xref: UNIPROTKB/SWISSPROT:P13645 ; xref: ENSEMBL:ENSG00000186395] Orphanet ID- 20530 AEI Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:122887 ; Name:Keratin 1 ; Symbol:KRT1 ; xref: GENATLAS:KRT1 ; xref: HGNC:6412 ; xref: OMIM:139350 ; xref: UNIPROTKB/SWISSPROT:P04264 ; xref: ENSEMBL:ENSG00000167768] OMIM:607602 EXACT AEI Erythrokeratodermia variabilis, Kamouraska type EKV3 Erythrokeratodermia variabilis 3 Orphanet ID- 20531 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281183 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EKV3 Erythrokeratodermia variabilis 3 OMIM:609313 EXACT Erythrokeratodermia variabilis 3 EXACT EKV3 Congenital reticular ichthyosiform erythroderma CRIE IWC Ichthyosis variegata Ichthyosis with confetti OMIM:609165 Ichthyosis with confetti IWC prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Ichthyosis variegata Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 CRIE Orphanet ID- 20532 Gene [OrphaNum:122891 ; Name:Keratin 10 ; Symbol:KRT10 ; xref: GENATLAS:KRT10 ; xref: HGNC:6413 ; xref: OMIM:148080 ; xref: UNIPROTKB/SWISSPROT:P13645 ; xref: ENSEMBL:ENSG00000186395] EXACT IWC EXACT Ichthyosis with confetti EXACT CRIE EXACT Ichthyosis variegata Keratosis linearis - ichthyosis congenita - sclerosing keratoderma KLICK syndrome Orphanet ID- 20533 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:281391 ; Name:Proteasome maturation protein ; Symbol:POMP ; xref: ENSEMBL:ENSG00000132963 ; xref: HGNC:20330 ; xref: OMIM:613386 ; xref: GENATLAS:POMP ; xref: UNIPROTKB/SWISSPROT:Q9Y244] KLICK syndrome OMIM:601952 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 EXACT KLICK syndrome X-linked ichthyosis syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210 Orphanet ID- 20534 Autosomal ichthyosis syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281217 Orphanet ID- 20535 Autosomal ichthyosis syndrome with prominent hair abnormalities Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281222 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20536 Congenital ichthyosis with trichothiodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281234 Orphanet ID- 20537 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal ichthyosis syndrome with prominent neurologics signs prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20538 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281238 Autosomal ichthyosis syndrome with fatal disease course prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281241 Orphanet ID- 20539 Hirschsprung disease - deafness - polydactyly Santos-Mateus-Leal syndrome OMIM:235740 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 ICD10:Q43.1 Santos-Mateus-Leal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2054 EXACT Santos-Mateus-Leal syndrome Autosomal ichthyosis syndrome with other associated signs Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281244 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20540 Partial deletion of chromosome 12 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20555 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282124 Hirsutism - skeletal dysplasia - intellectual deficit Wiedemann-Oldigs-Oppermann syndrome Wiedemann-Oldigs-Oppermann syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2156 OMIM:142625 Orphanet ID- 2056 EXACT Wiedemann-Oldigs-Oppermann syndrome Larsen-like syndrome, B3GAT3 type Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects Orphanet ID- 20576 Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 OMIM:245600 Gene [OrphaNum:284146 ; Name:Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) ; Symbol:B3GAT3 ; xref: ENSEMBL:ENSG00000149541 ; xref: HGNC:923 ; xref: OMIM:606374 ; xref: GENATLAS:B3GAT3 ; xref: UNIPROTKB/SWISSPROT:O94766] EXACT Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects Craniosynostosis and dental anomalies Kreiborg-Pakistani syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 Kreiborg-Pakistani syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:614188 Gene [OrphaNum:284155 ; Name:Interleukin 11 receptor, alpha ; Symbol:IL11RA ; xref: ENSEMBL:ENSG00000137070 ; xref: HGNC:5967 ; xref: OMIM:600939 ; xref: GENATLAS:IL11RA ; xref: UNIPROTKB/SWISSPROT:Q14626] Orphanet ID- 20578 EXACT Kreiborg-Pakistani syndrome Holoprosencephaly - craniosynostosis Camero-Lituania-Cohen syndrome Genes syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Camero-Lituania-Cohen syndrome OMIM:601370 Orphanet ID- 2058 ICD10:Q75.0 ICD10:Q04.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 Genes syndrome EXACT Camero-Lituania-Cohen syndrome EXACT Genes syndrome 8q21.11 microdeletion syndrome Del(8)(q21.11) Deletion 8q21.11 Monosomy 8q21.11 Orphanet ID- 20581 Monosomy 8q21.11 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 Del(8)(q21.11) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q93.5 Deletion 8q21.11 OMIM:614230 EXACT Deletion 8q21.11 EXACT Monosomy 8q21.11 EXACT Del(8)(q21.11) 10p11.21p12.31 microdeletion syndrome 10p12p11 microdeletion syndrome Deletion 10p11.21p12.31 Monosomy 10p11.21p12.31 del(10)(p11.21p12.31) prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; del(10)(p11.21p12.31) Orphanet ID- 20582 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 Deletion 10p11.21p12.31 ICD10:Q83.5 Monosomy 10p11.21p12.31 10p12p11 microdeletion syndrome EXACT 10p12p11 microdeletion syndrome EXACT Monosomy 10p11.21p12.31 EXACT Deletion 10p11.21p12.31 EXACT del(10)(p11.21p12.31) Xp22.13p22.2 duplication syndrome Dup(X)(p22) Dup(X)(p22.13p22.2) Duplication Xp22 Duplication Xp22 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- X-linked recessive; Dup(X)(p22) Orphanet ID- 20583 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 Dup(X)(p22.13p22.2) EXACT Duplication Xp22 EXACT Dup(X)(p22) EXACT Dup(X)(p22.13p22.2) Autosomal dominant Charcot-Marie-Tooth disease type 2O CMT2O Orphanet ID- 20585 OMIM:614228 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 Gene [OrphaNum:284237 ; Name:Dynein, cytoplasmic 1, heavy chain 1 ; Symbol:DYNC1H1 ; xref: ENSEMBL:ENSG00000197102 ; xref: REACTOME:Q14204 ; xref: HGNC:2961 ; xref: OMIM:600112 ; xref: GENATLAS:DYNC1H1 ; xref: UNIPROTKB/SWISSPROT:Q14204] CMT2O EXACT CMT2O Familial retinal arterial macroaneurysm FRAM Retinal arterial macroaneurysm and supravalvular pulmonic stenosis prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:614224 Gene [OrphaNum:284258 ; Name:Insulin-like growth factor binding protein 7 ; Symbol:IGFBP7 ; xref: ENSEMBL:ENSG00000163453 ; xref: HGNC:5476 ; xref: OMIM:602867 ; xref: GENATLAS:IGFBP7 ; xref: UNIPROTKB/SWISSPROT:Q16270] FRAM Retinal arterial macroaneurysm and supravalvular pulmonic stenosis Orphanet ID- 20587 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 EXACT Retinal arterial macroaneurysm and supravalvular pulmonic stenosis EXACT FRAM Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit Autosomal recessive spinocerebellar ataxia-12 SCAR12 OMIM:614322 SCAR12 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20592 Autosomal recessive spinocerebellar ataxia-12 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 EXACT SCAR12 EXACT Autosomal recessive spinocerebellar ataxia-12 Adult-onset autosomal recessive cerebellar ataxia Autosomal recessive spinocerebellar ataxia-10 SCAR10 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 Gene [OrphaNum:284296 ; Name:Anoctamin 10 ; Symbol:ANO10 ; xref: HGNC:25519 ; xref: OMIM:613726 ; xref: GENATLAS:ANO10 ; xref: UNIPROTKB/SWISSPROT:Q9NW15 ; xref: ENSEMBL:ENSG00000160746] Autosomal recessive spinocerebellar ataxia-10 OMIM:613728 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; SCAR10 Orphanet ID- 20593 EXACT SCAR10 EXACT Autosomal recessive spinocerebellar ataxia-10 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia Autosomal recessive spinocerebellar ataxia-7 SCAR7 Autosomal recessive spinocerebellar ataxia-7 OMIM:609270 Orphanet ID- 20595 SCAR7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Autosomal recessive spinocerebellar ataxia-7 EXACT SCAR7 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia Autosomal recessive spinocerebellar ataxia-6 SCAR6 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; SCAR6 OMIM:608029 Autosomal recessive spinocerebellar ataxia-6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 Orphanet ID- 20596 EXACT Autosomal recessive spinocerebellar ataxia-6 EXACT SCAR6 Noonan syndrome OMIM:609942 Gene [OrphaNum:138722 ; Name:v-raf-1 murine leukemia viral oncogene homolog 1 ; Symbol:RAF1 ; xref: GENATLAS:RAF1 ; xref: HGNC:9829 ; xref: OMIM:164760 ; xref: UNIPROTKB/SWISSPROT:P04049 ; xref: ENSEMBL:ENSG00000132155 ; xref: REACTOME:P04049] Gene [OrphaNum:122879 ; Name:V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog ; Symbol:KRAS ; xref: GENATLAS:KRAS ; xref: HGNC:6407 ; xref: OMIM:190070 ; xref: UNIPROTKB/SWISSPROT:P01116 ; xref: ENSEMBL:ENSG00000133703 ; xref: REACTOME:P01116] Gene [OrphaNum:118143 ; Name:Protein tyrosine phosphatase, non-receptor type 11 ; Symbol:PTPN11 ; xref: GENATLAS:PTPN11 ; xref: HGNC:9644 ; xref: OMIM:176876 ; xref: UNIPROTKB/SWISSPROT:Q06124 ; xref: ENSEMBL:ENSG00000179295 ; xref: REACTOME:Q06124] OMIM:163950 OMIM:613563 ICD10:Q87.1 Gene [OrphaNum:123772 ; Name:Neurofibromin 1 ; Symbol:NF1 ; xref: GENATLAS:NF1 ; xref: HGNC:7765 ; xref: OMIM:613113 ; xref: UNIPROTKB/SWISSPROT:P21359 ; xref: ENSEMBL:ENSG00000196712] OMIM:613706 Gene [OrphaNum:242915 ; Name:Cas-Br-M (murine) ecotropic retroviral transforming sequence ; Symbol:CBL ; xref: GENATLAS:CBL ; xref: HGNC:1541 ; xref: ENSEMBL:ENSG00000110395 ; xref: REACTOME:P22681 ; xref: OMIM:165360 ; xref: UNIPROTKB/SWISSPROT:P22681] Gene [OrphaNum:119066 ; Name:V-raf murine sarcoma viral oncogene homolog B1 ; Symbol:BRAF ; xref: GENATLAS:BRAF ; xref: HGNC:1097 ; xref: OMIM:164757 ; xref: UNIPROTKB/SWISSPROT:P15056 ; xref: REACTOME:P15056 ; xref: ENSEMBL:ENSG00000157764] Gene [OrphaNum:119781 ; Name:Son of sevenless homolog 1 (Drosophila) ; Symbol:SOS1 ; xref: GENATLAS:SOS1 ; xref: HGNC:11187 ; xref: OMIM:182530 ; xref: UNIPROTKB/SWISSPROT:Q07889 ; xref: ENSEMBL:ENSG00000115904 ; xref: REACTOME:Q07889] OMIM:613224 OMIM:610733 OMIM:605275 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 Gene [OrphaNum:221346 ; Name:Neuroblastoma RAS viral (v-ras) oncogene homolog ; Symbol:NRAS ; xref: ENSEMBL:ENSG00000213281 ; xref: REACTOME:P01111 ; xref: GENATLAS:NRAS ; xref: HGNC:7989 ; xref: OMIM:164790 ; xref: UNIPROTKB/SWISSPROT:P01111] Gene [OrphaNum:285156 ; Name:K(lysine) Acetyltransferase 6B ; Symbol:KAT6B ; xref: HGNC:17582 ; xref: OMIM:605880 ; xref: UNIPROTKB/SWISSPROT:Q8WYB5 ; xref: ENSEMBL:ENSG00000156650 ; xref: GENATLAS:KAT6B] Orphanet ID- 206 OMIM:611553 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Familial intrahepatic cholestasis Orphanet ID- 20602 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284385 Infantile glycerol kinase deficiency Gene [OrphaNum:122149 ; Name:Glycerol kinase ; Symbol:GK ; xref: GENATLAS:GK ; xref: HGNC:4289 ; xref: OMIM:300474 ; xref: UNIPROTKB/SWISSPROT:P32189 ; xref: ENSEMBL:ENSG00000198814 ; xref: REACTOME:P32189] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284408 Orphanet ID- 20606 Juvenile glycerol kinase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122149 ; Name:Glycerol kinase ; Symbol:GK ; xref: GENATLAS:GK ; xref: HGNC:4289 ; xref: OMIM:300474 ; xref: UNIPROTKB/SWISSPROT:P32189 ; xref: ENSEMBL:ENSG00000198814 ; xref: REACTOME:P32189] Orphanet ID- 20607 Adult glycerol kinase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 Orphanet ID- 20608 Gene [OrphaNum:122149 ; Name:Glycerol kinase ; Symbol:GK ; xref: GENATLAS:GK ; xref: HGNC:4289 ; xref: OMIM:300474 ; xref: UNIPROTKB/SWISSPROT:P32189 ; xref: ENSEMBL:ENSG00000198814 ; xref: REACTOME:P32189] Phosphoserine aminotransferase deficiency PSAT deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 Gene [OrphaNum:159912 ; Name:Phosphoserine aminotransferase 1 ; Symbol:PSAT1 ; xref: GENATLAS:PSAT1 ; xref: HGNC:19129 ; xref: OMIM:610936 ; xref: UNIPROTKB/SWISSPROT:Q9Y617 ; xref: REACTOME:Q9Y617 ; xref: ENSEMBL:ENSG00000135069] PSAT deficiency OMIM:610992 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 20609 EXACT PSAT deficiency Holoprosencephaly - postaxial polydactyly Pseudo-trisomy 13 syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166 Pseudo-trisomy 13 syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2061 OMIM:264480 EXACT Pseudo-trisomy 13 syndrome Lactate dehydrogenase M-subunit deficiency LDH-M subunit deficiency Lactate dehydrogenase A deficiency Orphanet ID- 20610 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 Gene [OrphaNum:123015 ; Name:Lactate dehydrogenase A ; Symbol:LDHA ; xref: GENATLAS:LDHA ; xref: HGNC:6535 ; xref: OMIM:150000 ; xref: UNIPROTKB/SWISSPROT:P00338 ; xref: ENSEMBL:ENSG00000134333 ; xref: REACTOME:P00338] LDH-M subunit deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Lactate dehydrogenase A deficiency OMIM:612933 EXACT LDH-M subunit deficiency EXACT Lactate dehydrogenase A deficiency Lactate dehydrogenase H-subunit deficiency LDH-H subunit deficiency Lactate dehydrogenase B deficiency Gene [OrphaNum:123017 ; Name:Lactate dehydrogenase B ; Symbol:LDHB ; xref: GENATLAS:LDHB ; xref: HGNC:6541 ; xref: OMIM:150100 ; xref: UNIPROTKB/SWISSPROT:P07195 ; xref: ENSEMBL:ENSG00000111716 ; xref: REACTOME:P07195] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 LDH-H subunit deficiency Lactate dehydrogenase B deficiency OMIM:614128 Orphanet ID- 20611 EXACT Lactate dehydrogenase B deficiency EXACT LDH-H subunit deficiency Holzgreve-Wagner-Rehder syndrome OMIM:236110 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 Orphanet ID- 2062 Ocular albinism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804 Orphanet ID- 20623 Syndromic oculocutaneous albinism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811 Orphanet ID- 20624 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Disorder of phenylalanine metabolism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814 Orphanet ID- 20625 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Disorder of tyrosine metabolism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818 Orphanet ID- 20626 Oculocutaneous albinism due to disorder of tyrosin metabolism Orphanet ID- 20627 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284823 Marfan syndrome type 1 MFS1 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; ICD10:Q87.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 MFS1 Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] Orphanet ID- 20628 OMIM:154700 EXACT MFS1 Marfan syndrome type 2 Loeys-Dietz syndrome type 2 MFS2 ICD10:Q87.4 Orphanet ID- 20629 OMIM:610380 Loeys-Dietz syndrome type 2 MFS2 Gene [OrphaNum:120069 ; Name:Transforming growth factor, beta receptor II (70/80kDa) ; Symbol:TGFBR2 ; xref: GENATLAS:TGFBR2 ; xref: HGNC:11773 ; xref: OMIM:190182 ; xref: UNIPROTKB/SWISSPROT:P37173 ; xref: ENSEMBL:ENSG00000163513 ; xref: REACTOME:P37173] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; EXACT Loeys-Dietz syndrome type 2 EXACT MFS2 Methylcobalamin deficiency type cblE Homocystinuria due to defect in methylation type cblE Homocystinuria due to defect in methylation type cblE prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:236270 Orphanet ID- 2063 Gene [OrphaNum:123574 ; Name:5-methyltetrahydrofolate-homocysteine methyltransferase reductase ; Symbol:MTRR ; xref: GENATLAS:MTRR ; xref: HGNC:7473 ; xref: OMIM:602568 ; xref: UNIPROTKB/SWISSPROT:Q9UBK8 ; xref: ENSEMBL:ENSG00000124275] ICD10:E72.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 EXACT Homocystinuria due to defect in methylation type cblE Neonatal Marfan syndrome Neonatal MFS Orphanet ID- 20630 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284979 ICD10:Q87.4 Neonatal MFS prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] OMIM:154700 EXACT Neonatal MFS Aneurysm - osteoarthritis syndrome AOS Loeys-Dietz syndrome with osteoarthritis Orphanet ID- 20631 Loeys-Dietz syndrome with osteoarthritis OMIM:613795 Gene [OrphaNum:260331 ; Name:SMAD family member 3 ; Symbol:SMAD3 ; xref: ENSEMBL:ENSG00000166949 ; xref: HGNC:6769 ; xref: OMIM:603109 ; xref: GENATLAS:SMAD3 ; xref: UNIPROTKB/SWISSPROT:P84022 ; xref: REACTOME:P84022] AOS prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284984 EXACT Loeys-Dietz syndrome with osteoarthritis EXACT AOS Marfan and Marfan-related disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284993 Orphanet ID- 20632 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial thoracic aneurysm and dissection Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285014 Orphanet ID- 20633 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Microcephaly - glomerulonephritis - marfanoid habitus OMIM:248760 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172 Orphanet ID- 2065 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Disorder of folate metabolism Orphanet ID- 20670 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Infantile systemic hyalinosis Gene [OrphaNum:121369 ; Name:Anthrax toxin receptor 2 ; Symbol:ANTXR2 ; xref: HGNC:21732 ; xref: OMIM:608041 ; xref: UNIPROTKB/SWISSPROT:P58335 ; xref: GENATLAS:ANTXR2 ; xref: ENSEMBL:ENSG00000163297] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 OMIM:236490 Orphanet ID- 2069 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Disorders of vitamin D metabolism Orphanet ID- 20698 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 Hypocalcemic rickets prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103 Orphanet ID- 20699 Gorlin syndrome Basal cell nevus syndrome Nevoid basal cell carcinoma syndrome OMIM:109400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 Gene [OrphaNum:118121 ; Name:Patched homolog 1 (Drosophila) ; Symbol:PTCH1 ; xref: GENATLAS:PTCH1 ; xref: HGNC:9585 ; xref: OMIM:601309 ; xref: UNIPROTKB/SWISSPROT:Q13635 ; xref: REACTOME:Q13635 ; xref: ENSEMBL:ENSG00000185920] ICD10:D36.9 Orphanet ID- 207 prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Basal cell nevus syndrome Nevoid basal cell carcinoma syndrome EXACT Basal cell nevus syndrome EXACT Nevoid basal cell carcinoma syndrome Hydrocephalus - costovertebral dysplasia - Sprengel anomaly Ferlini-Ragno-Calzolari syndrome Waaler-Aarskog syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 2070 Waaler-Aarskog syndrome Ferlini-Ragno-Calzolari syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180 OMIM:600991 EXACT Ferlini-Ragno-Calzolari syndrome EXACT Waaler-Aarskog syndrome Hypocalcemic vitamin D dependent rickets 1-alpha-hydroxylase deficiency PDDRI Pseudovitamin D-deficient rickets VDDI VDDR-I Vitamin D dependent rickets type I Vitamin D-dependency type I OMIM:600785 Gene [OrphaNum:120994 ; Name:Cytochrome P450, family 27, subfamily B, polypeptide 1 ; Symbol:CYP27B1 ; xref: GENATLAS:CYP27B1 ; xref: HGNC:2606 ; xref: OMIM:609506 ; xref: UNIPROTKB/SWISSPROT:O15528 ; xref: REACTOME:O15528 ; xref: ENSEMBL:ENSG00000111012] prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; VDDI 1-alpha-hydroxylase deficiency Vitamin D-dependency type I Gene [OrphaNum:121000 ; Name:Cytochrome P450, family 2, subfamily R, polypeptide 1 ; Symbol:CYP2R1 ; xref: GENATLAS:CYP2R1 ; xref: HGNC:20580 ; xref: OMIM:608713 ; xref: UNIPROTKB/SWISSPROT:Q6VVX0 ; xref: REACTOME:Q6VVX0 ; xref: ENSEMBL:ENSG00000186104] Pseudovitamin D-deficient rickets VDDR-I PDDRI OMIM:600081 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 OMIM:264700 Vitamin D dependent rickets type I Orphanet ID- 20702 EXACT Vitamin D-dependency type I EXACT VDDI EXACT Vitamin D dependent rickets type I EXACT 1-alpha-hydroxylase deficiency EXACT Pseudovitamin D-deficient rickets EXACT VDDR-I EXACT PDDRI Autosomal recessive hypophosphatemic rickets ARHR OMIM:613312 ARHR Gene [OrphaNum:121553 ; Name:Ectonucleotide pyrophosphatase/phosphodiesterase 1 ; Symbol:ENPP1 ; xref: GENATLAS:ENPP1 ; xref: HGNC:3356 ; xref: OMIM:173335 ; xref: UNIPROTKB/SWISSPROT:P22413 ; xref: ENSEMBL:ENSG00000197594 ; xref: REACTOME:P22413] prevalence- No data available; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 Gene [OrphaNum:121129 ; Name:Dentin matrix acidic phosphoprotein ; Symbol:DMP1 ; xref: GENATLAS:DMP1 ; xref: HGNC:2932 ; xref: OMIM:600980 ; xref: UNIPROTKB/SWISSPROT:Q13316 ; xref: ENSEMBL:ENSG00000152592] OMIM:241520 Orphanet ID- 20703 EXACT ARHR Benign adult familial myoclonic epilepsy type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289251 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20704 OMIM:613608 Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation Gene [OrphaNum:289276 ; Name:Glutamate receptor, ionotropic, N-methyl D-aspartate 2A ; Symbol:GRIN2A ; xref: HGNC:4585 ; xref: OMIM:138253 ; xref: GENATLAS:GRIN2A ; xref: UNIPROTKB/SWISSPROT:Q12879 ; xref: ENSEMBL:ENSG00000183454 ; xref: REACTOME:Q12879] OMIM:613971 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 Orphanet ID- 20705 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Hypermethioninemia encephalopathy due to adenosine kinase deficiency ADK hypermethioninemia Hypermethioninemia encephalopathy due to ADK deficiency OMIM:614300 ADK hypermethioninemia prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 20707 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 Hypermethioninemia encephalopathy due to ADK deficiency Gene [OrphaNum:289298 ; Name:Adenosine kinase ; Symbol:ADK ; xref: HGNC:257 ; xref: OMIM:102750 ; xref: GENATLAS:ADK ; xref: UNIPROTKB/SWISSPROT:P55263 ; xref: ENSEMBL:ENSG00000156110 ; xref: REACTOME:P55263] EXACT Hypermethioninemia encephalopathy due to ADK deficiency EXACT ADK hypermethioninemia Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Developmental delay due to ALDH6A1 deficiency Developmental delay due to MMSDH deficiency Gene [OrphaNum:289319 ; Name:Aldehyde dehydrogenase 6 family, member A1 ; Symbol:ALDH6A1 ; xref: HGNC:7179 ; xref: OMIM:603178 ; xref: GENATLAS:ALDH6A1 ; xref: UNIPROTKB/SWISSPROT:Q02252 ; xref: ENSEMBL:ENSG00000119711 ; xref: REACTOME:Q02252] Developmental delay due to MMSDH deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 Developmental delay due to ALDH6A1 deficiency OMIM:614105 Orphanet ID- 20709 EXACT Developmental delay due to ALDH6A1 deficiency EXACT Developmental delay due to MMSDH deficiency Hydrocephaly - tall stature - joint laxity Daish-Hardman-Lamont syndrome Daish-Hardman-Lamont syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181 Orphanet ID- 2071 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:236660 EXACT Daish-Hardman-Lamont syndrome Familial vesicoureteral reflux Familial VUR OMIM:610878 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 Gene [OrphaNum:289375 ; Name:SRY (sex determining region Y)-box 17 ; Symbol:SOX17 ; xref: HGNC:18122 ; xref: OMIM:610928 ; xref: GENATLAS:SOX17 ; xref: UNIPROTKB/SWISSPROT:Q9H6I2 ; xref: ENSEMBL:ENSG00000164736] Orphanet ID- 20715 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:289371 ; Name:Roundabout, axon guidance receptor, homolog 2 (Drosophila) ; Symbol:ROBO2 ; xref: ENSEMBL:ENSG00000185008 ; xref: HGNC:10250 ; xref: OMIM:602431 ; xref: GENATLAS:ROBO2 ; xref: UNIPROTKB/SWISSPROT:Q9HCK4 ; xref: REACTOME:Q9HCK4] OMIM:613674 Familial VUR EXACT Familial VUR Early-onset myopathy with fatal cardiomyopathy prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:611705 Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 Orphanet ID- 20718 Myosclerosis Congenital myosclerosis, Löwenthal type Orphanet ID- 20719 OMIM:255600 Congenital myosclerosis, Löwenthal type prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:120734 ; Name:Collagen, type VI, alpha 2 ; Symbol:COL6A2 ; xref: GENATLAS:COL6A2 ; xref: HGNC:2212 ; xref: OMIM:120240 ; xref: UNIPROTKB/SWISSPROT:P12110 ; xref: REACTOME:P12110 ; xref: ENSEMBL:ENSG00000142173] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 EXACT Congenital myosclerosis, Löwenthal type Hydrocephalus - blue sclerae - nephropathy Daentl-Townsend-Siegel syndrome Orphanet ID- 2072 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 Daentl-Townsend-Siegel syndrome EXACT Daentl-Townsend-Siegel syndrome Isolated adermatoglyphia Absence of fingerprints Immigration delay disease OMIM:136000 Absence of fingerprints Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 20723 Gene [OrphaNum:289472 ; Name:SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 ; Symbol:SMARCAD1 ; xref: HGNC:18398 ; xref: OMIM:612761 ; xref: GENATLAS:SMARCAD1 ; xref: UNIPROTKB/SWISSPROT:Q9H4L7 ; xref: ENSEMBL:ENSG00000163104] Immigration delay disease EXACT Immigration delay disease EXACT Absence of fingerprints Intellectual deficit - alacrima - achalasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300858 Orphanet ID- 20726 Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism Orphanet ID- 20728 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital cataract microcornea with corneal opacity CCMCO Gene [OrphaNum:298500 ; Name:Atonal homolog 7 (Drosophila) ; Symbol:ATOH7 ; xref: HGNC:13907 ; xref: OMIM:609875 ; xref: GENATLAS:ATOH7 ; xref: UNIPROTKB/SWISSPROT:Q8N100] Orphanet ID- 20730 Gene [OrphaNum:285089 ; Name:Peroxidasin homolog (Drosophila) ; Symbol:PXDN ; xref: UNIPROTKB/SWISSPROT:Q92626 ; xref: HGNC:14966 ; xref: GENATLAS:PXDN ; xref: OMIM:605158 ; xref: ENSEMBL:ENSG00000130508] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; CCMCO Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499 EXACT CCMCO Combined malonic and methylmalonic acidemia CMAMMA Combined malonic and methylmalonic aciduria prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Combined malonic and methylmalonic aciduria CMAMMA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 Gene [OrphaNum:289511 ; Name:Acyl-CoA synthetase family member 3 ; Symbol:ACSF3 ; xref: HGNC:27288 ; xref: OMIM:614245 ; xref: GENATLAS:ACSF3 ; xref: UNIPROTKB/SWISSPROT:Q4G176 ; xref: ENSEMBL:ENSG00000176715] Orphanet ID- 20731 OMIM:614265 EXACT Combined malonic and methylmalonic aciduria EXACT CMAMMA 12q15q21.1 microdeletion syndrome Del(12)(q15)(q21.1) Deletion 12q15q21.1 Monosomy 12q15q21.1 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Monosomy 12q15q21.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 Deletion 12q15q21.1 Orphanet ID- 20733 Del(12)(q15)(q21.1) EXACT Deletion 12q15q21.1 EXACT Del(12)(q15)(q21.1) EXACT Monosomy 12q15q21.1 Microtriplication 11q24.1 Tetrasomy 11q24.1 Tetrasomy 11q24.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 Orphanet ID- 20734 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; EXACT Tetrasomy 11q24.1 Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Fatal infantile HCM due to mitochondrial complex I deficiency Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency Gene [OrphaNum:289535 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 ; Symbol:NDUFAF1 ; xref: ENSEMBL:ENSG00000137806 ; xref: HGNC:18828 ; xref: OMIM:606934 ; xref: GENATLAS:NDUFAF1 ; xref: UNIPROTKB/SWISSPROT:Q9Y375] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289527 Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency Fatal infantile HCM due to mitochondrial complex I deficiency OMIM:252010 Orphanet ID- 20735 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant; EXACT Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency EXACT Fatal infantile HCM due to mitochondrial complex I deficiency EXACT Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency BAP1-related tumor predisposition syndrome Tumor susceptibility linked to germline BAP1 mutations Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539 Orphanet ID- 20737 Tumor susceptibility linked to germline BAP1 mutations prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:614327 Gene [OrphaNum:289543 ; Name:BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) ; Symbol:BAP1 ; xref: HGNC:950 ; xref: OMIM:603089 ; xref: GENATLAS:BAP1 ; xref: UNIPROTKB/SWISSPROT:Q92560 ; xref: ENSEMBL:ENSG00000163930] EXACT Tumor susceptibility linked to germline BAP1 mutations Inherited isolated adrenal insufficiency Partial CYP11A1 deficiency Partial CYP11A1 deficiency Gene [OrphaNum:120945 ; Name:Cytochrome P450, family 11, subfamily A, polypeptide 1 ; Symbol:CYP11A1 ; xref: GENATLAS:CYP11A1 ; xref: HGNC:2590 ; xref: OMIM:118485 ; xref: UNIPROTKB/SWISSPROT:P05108 ; xref: ENSEMBL:ENSG00000140459 ; xref: REACTOME:P05108] Orphanet ID- 20739 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548 EXACT Partial CYP11A1 deficiency Dysmorphism - conductive hearing loss - heart defect Orphanet ID- 20740 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 Neurodegeneration with brain iron accumulation due to C19orf12 mutation MPAN Mitochondrial membrane protein associated neurodegeneration NBIA due to C19orf12 mutation OMIM:614298 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:289569 ; Name:Chromosome 19 open reading frame 12 ; Symbol:C19ORF12 ; xref: HGNC:25443 ; xref: OMIM:614297 ; xref: GENATLAS:C19orf12 ; xref: UNIPROTKB/SWISSPROT:Q9NSK7 ; xref: ENSEMBL:ENSG00000131943] Mitochondrial membrane protein associated neurodegeneration MPAN Orphanet ID- 20741 NBIA due to C19orf12 mutation EXACT Mitochondrial membrane protein associated neurodegeneration EXACT NBIA due to C19orf12 mutation EXACT MPAN Fatal multiple mitochondrial dysfunction syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 Gene [OrphaNum:289583 ; Name:BolA homolog 3 (E. coli) ; Symbol:BOLA3 ; xref: HGNC:24415 ; xref: OMIM:613183 ; xref: GENATLAS:BOLA3 ; xref: UNIPROTKB/SWISSPROT:Q53S33 ; xref: ENSEMBL:ENSG00000163170] Gene [OrphaNum:289576 ; Name:NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) ; Symbol:NFU1 ; xref: ENSEMBL:ENSG00000169599 ; xref: HGNC:16287 ; xref: OMIM:608100 ; xref: GENATLAS:NFU1 ; xref: UNIPROTKB/SWISSPROT:Q9UMS0] Orphanet ID- 20743 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:605711 OMIM:614299 Exfoliative ichthyosis Autosomal recessive exfoliative ichthyosis OMIM:607936 Orphanet ID- 20746 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 Gene [OrphaNum:289589 ; Name:Cystatin A (stefin A) ; Symbol:CSTA ; xref: HGNC:2481 ; xref: OMIM:184600 ; xref: GENATLAS:CSTA ; xref: UNIPROTKB/SWISSPROT:P01040 ; xref: ENSEMBL:ENSG00000121552] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Autosomal recessive exfoliative ichthyosis EXACT Autosomal recessive exfoliative ichthyosis Hereditary arterial and articular multiple calcification syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289601 Orphanet ID- 20749 OMIM:211800 Gene [OrphaNum:289604 ; Name:5'-nucleotidase, ecto (CD73) ; Symbol:NT5E ; xref: HGNC:8021 ; xref: OMIM:129190 ; xref: GENATLAS:NT5E ; xref: UNIPROTKB/SWISSPROT:P21589 ; xref: ENSEMBL:ENSG00000135318 ; xref: REACTOME:P21589] prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Hydrolethalus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 OMIM:236680 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:614120 Gene [OrphaNum:122562 ; Name:Hydrolethalus syndrome 1 ; Symbol:HYLS1 ; xref: GENATLAS:HYLS1 ; xref: HGNC:26558 ; xref: OMIM:610693 ; xref: UNIPROTKB/SWISSPROT:Q96M11 ; xref: ENSEMBL:ENSG00000198331] Gene [OrphaNum:268061 ; Name:kinesin family member 7 ; Symbol:KIF7 ; xref: HGNC:30497 ; xref: OMIM:611254 ; xref: GENATLAS:KIF7 ; xref: UNIPROTKB/SWISSPROT:Q2M1P5 ; xref: ENSEMBL:ENSG00000166813] Orphanet ID- 2075 ICD10:Q87.8 Congenital hydronephrosis Orphanet ID- 2076 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; ICD10:Q62.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2190 Late-onset primary lymphedema prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20760 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825 Disorder of tryptophan metabolism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829 Orphanet ID- 20761 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Disorder of lysine and hydroxylysine metabolism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832 Orphanet ID- 20762 Disorder of glutamine metabolism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20763 Glutathione synthetase deficiency with 5-oxoprolinuria Orphanet ID- 20764 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 Glutathione synthetase deficiency without 5-oxoprolinuria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20765 Neonatal glycine encephalopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20766 Infantile glycine encephalopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 Orphanet ID- 20767 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Atypical glycine encephalopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20768 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 Disorder of proline metabolism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20769 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866 Hypermethioninemia due to glycine N-methyltransferase deficiency Glycine N-methyltransferase deficiency Hypermethioninemia due to GNMT deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Glycine N-methyltransferase deficiency Orphanet ID- 20772 Hypermethioninemia due to GNMT deficiency Gene [OrphaNum:289897 ; Name:Glycine N-methyltransferase ; Symbol:GNMT ; xref: HGNC:4415 ; xref: OMIM:606628 ; xref: GENATLAS:GNMT ; xref: UNIPROTKB/SWISSPROT:Q14749 ; xref: ENSEMBL:ENSG00000124713] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 OMIM:606664 EXACT Hypermethioninemia due to GNMT deficiency EXACT Glycine N-methyltransferase deficiency Organic aciduria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899 Orphanet ID- 20774 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; 3-methylglutaconic aciduria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20775 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902 Complete deficiency of methylmalonyl-CoA mutase Complete methylmalonyl-CoA epimerase deficiency Complete methylmalonyl-CoA racemase deficiency Vitamin B12 unresponsive methylmalonic acidemia type mut 0 Vitamin B12 unresponsive methylmalonic aciduria type mut 0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 Vitamin B12 unresponsive methylmalonic acidemia type mut 0 Gene [OrphaNum:123583 ; Name:Methylmalonyl Coenzyme A mutase ; Symbol:MUT ; xref: GENATLAS:MUT ; xref: HGNC:7526 ; xref: OMIM:609058 ; xref: UNIPROTKB/SWISSPROT:P22033 ; xref: REACTOME:P22033 ; xref: ENSEMBL:ENSG00000146085] OMIM:251000 Vitamin B12 unresponsive methylmalonic aciduria type mut 0 Complete methylmalonyl-CoA epimerase deficiency Complete methylmalonyl-CoA racemase deficiency Orphanet ID- 20777 EXACT Complete methylmalonyl-CoA racemase deficiency EXACT Vitamin B12 unresponsive methylmalonic acidemia type mut 0 EXACT Complete methylmalonyl-CoA epimerase deficiency EXACT Vitamin B12 unresponsive methylmalonic aciduria type mut 0 Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement Hypercalciuria - bilateral macular coloboma Meier-Blumberg-Imahorn syndrome Orphanet ID- 2078 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:248190 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 Hypercalciuria - bilateral macular coloboma Gene [OrphaNum:120628 ; Name:Claudin 19 ; Symbol:CLDN19 ; xref: GENATLAS:CLDN19 ; xref: HGNC:2040 ; xref: OMIM:610036 ; xref: UNIPROTKB/SWISSPROT:Q8N6F1 ; xref: ENSEMBL:ENSG00000164007 ; xref: REACTOME:Q8N6F1] Meier-Blumberg-Imahorn syndrome EXACT Meier-Blumberg-Imahorn syndrome EXACT Hypercalciuria - bilateral macular coloboma Autoinflammatory syndrome with immune deficiency Orphanet ID- 20783 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290839 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Epidermolytic ichthyosis Congenital bullous ichthyosiform erythroderma EHK EI Epidermolytic hyperkeratosis EHK prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312 Epidermolytic hyperkeratosis Gene [OrphaNum:122887 ; Name:Keratin 1 ; Symbol:KRT1 ; xref: GENATLAS:KRT1 ; xref: HGNC:6412 ; xref: OMIM:139350 ; xref: UNIPROTKB/SWISSPROT:P04264 ; xref: ENSEMBL:ENSG00000167768] Gene [OrphaNum:122891 ; Name:Keratin 10 ; Symbol:KRT10 ; xref: GENATLAS:KRT10 ; xref: HGNC:6413 ; xref: OMIM:148080 ; xref: UNIPROTKB/SWISSPROT:P13645 ; xref: ENSEMBL:ENSG00000186395] EI ICD10:Q80.3 OMIM:113800 Orphanet ID- 2079 Congenital bullous ichthyosiform erythroderma EXACT EI EXACT Epidermolytic hyperkeratosis EXACT Congenital bullous ichthyosiform erythroderma EXACT EHK Keratosis palmoplantaris - esophageal carcinoma Bennion-Patterson syndrome Tylosis - oesophageal carcinoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 Bennion-Patterson syndrome Gene [OrphaNum:292385 ; Name:Rhomboid 5 homolog 2 (Drosophila) ; Symbol:RHBDF2 ; xref: HGNC:20788 ; xref: OMIM:614404 ; xref: GENATLAS:RHBDF2 ; xref: UNIPROTKB/SWISSPROT:Q6PJF5] Orphanet ID- 2080 OMIM:148500 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Tylosis - oesophageal carcinoma EXACT Tylosis - oesophageal carcinoma EXACT Bennion-Patterson syndrome Greither's disease Keratoderma palmoplantaris transgrediens et progrediens Keratosis extremitatum hereditaria progrediens ICD10:Q82.8 Keratoderma palmoplantaris transgrediens et progrediens Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495 Orphanet ID- 2081 Keratosis extremitatum hereditaria progrediens OMIM:133200 Gene [OrphaNum:122135 ; Name:Gap junction protein, beta 3, 31kDa ; Symbol:GJB3 ; xref: GENATLAS:GJB3 ; xref: HGNC:4285 ; xref: OMIM:603324 ; xref: UNIPROTKB/SWISSPROT:O75712 ; xref: REACTOME:O75712 ; xref: ENSEMBL:ENSG00000188910] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Keratoderma palmoplantaris transgrediens et progrediens EXACT Keratosis extremitatum hereditaria progrediens Localized epidermolytic palmoplantar hyperkeratosis Epidermolytic palmoplantar keratoderma, Vörner type Localized acanthokeratolytic palmoplantar hyperkeratosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199 ICD10:Q82.8 Gene [OrphaNum:122887 ; Name:Keratin 1 ; Symbol:KRT1 ; xref: GENATLAS:KRT1 ; xref: HGNC:6412 ; xref: OMIM:139350 ; xref: UNIPROTKB/SWISSPROT:P04264 ; xref: ENSEMBL:ENSG00000167768] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2082 Epidermolytic palmoplantar keratoderma, Vörner type Gene [OrphaNum:122945 ; Name:Keratin 9 (epidermolytic palmoplantar keratoderma) ; Symbol:KRT9 ; xref: OMIM:607606 ; xref: UNIPROTKB/SWISSPROT:P35527 ; xref: GENATLAS:KRT9 ; xref: HGNC:6447 ; xref: ENSEMBL:ENSG00000171403] OMIM:144200 Localized acanthokeratolytic palmoplantar hyperkeratosis EXACT Epidermolytic palmoplantar keratoderma, Vörner type EXACT Localized acanthokeratolytic palmoplantar hyperkeratosis Palmoplantar keratosis, focal and gingival prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:148730 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200 Orphanet ID- 2083 ICD10:Q82.8 Familial clubfoot due to 5q31 microdeletion Hereditary clubfoot due to 5q31 microdeletion Gene [OrphaNum:201502 ; Name:Paired-like homeodomain 1 ; Symbol:PITX1 ; xref: ENSEMBL:ENSG00000069011 ; xref: GENATLAS:PITX1 ; xref: HGNC:9004 ; xref: OMIM:602149 ; xref: UNIPROTKB/SWISSPROT:P78337] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20836 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 Hereditary clubfoot due to 5q31 microdeletion EXACT Hereditary clubfoot due to 5q31 microdeletion Familial clubfoot due to PITX1 point mutation Hereditary clubfoot due to PITX1 point mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 Gene [OrphaNum:201502 ; Name:Paired-like homeodomain 1 ; Symbol:PITX1 ; xref: ENSEMBL:ENSG00000069011 ; xref: GENATLAS:PITX1 ; xref: HGNC:9004 ; xref: OMIM:602149 ; xref: UNIPROTKB/SWISSPROT:P78337] Hereditary clubfoot due to PITX1 point mutation OMIM:119800 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20837 EXACT Hereditary clubfoot due to PITX1 point mutation Skin fragility-woolly hair-palmoplantar keratoderma syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20838 Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924] OMIM:607655 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 Infantile-onset ascending hereditary spastic paralysis IAHSP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 Orphanet ID- 20839 OMIM:607225 Gene [OrphaNum:119644 ; Name:Amyotrophic lateral sclerosis 2 (juvenile) ; Symbol:ALS2 ; xref: ENSEMBL:ENSG00000003393 ; xref: GENATLAS:ALS2 ; xref: HGNC:443 ; xref: OMIM:606352 ; xref: UNIPROTKB/SWISSPROT:Q96Q42] IAHSP prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT IAHSP Palmoplantar keratoderma - spastic paralysis Powell-Venencie-Gordon syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:148360 Orphanet ID- 2084 Powell-Venencie-Gordon syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201 EXACT Powell-Venencie-Gordon syndrome Malignant migrating partial seizures of infancy MPEI MPSI Migrating partial epilepsy of infancy MPEI Migrating partial epilepsy of infancy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 MPSI Orphanet ID- 20841 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:118489 ; Name:Sodium channel, voltage-gated, type I, alpha subunit ; Symbol:SCN1A ; xref: GENATLAS:SCN1A ; xref: HGNC:10585 ; xref: OMIM:182389 ; xref: UNIPROTKB/SWISSPROT:P35498 ; xref: IUPHAR:578 ; xref: ENSEMBL:ENSG00000144285 ; xref: REACTOME:P35498] EXACT Migrating partial epilepsy of infancy EXACT MPEI EXACT MPSI Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria BH4-responsive HPA/PKU BH4-responsive hyperphenylalaninemia/phenylketonuria Tetrahydrobiopterin-responsive HPA/PKU prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:124068 ; Name:Phenylalanine hydroxylase ; Symbol:PAH ; xref: GENATLAS:PAH ; xref: HGNC:8582 ; xref: OMIM:612349 ; xref: UNIPROTKB/SWISSPROT:P00439 ; xref: REACTOME:P00439 ; xref: ENSEMBL:ENSG00000171759] BH4-responsive hyperphenylalaninemia/phenylketonuria BH4-responsive HPA/PKU Tetrahydrobiopterin-responsive HPA/PKU Orphanet ID- 20847 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 EXACT BH4-responsive hyperphenylalaninemia/phenylketonuria EXACT Tetrahydrobiopterin-responsive HPA/PKU EXACT BH4-responsive HPA/PKU Palmoplantar keratoderma - deafness Palmoplantar hyperkeratosis - deafness Palmoplantar hyperkeratosis - hearing loss Palmoplantar keratoderma - hearing loss prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Mitochondrial inheritance; Orphanet ID- 2085 Palmoplantar keratoderma - hearing loss Gene [OrphaNum:122129 ; Name:Gap junction protein, beta 2, 26kDa ; Symbol:GJB2 ; xref: GENATLAS:GJB2 ; xref: HGNC:4284 ; xref: OMIM:121011 ; xref: UNIPROTKB/SWISSPROT:P29033 ; xref: ENSEMBL:ENSG00000165474 ; xref: REACTOME:P29033] OMIM:148350 OMIM:221700 Palmoplantar hyperkeratosis - deafness Gene [OrphaNum:167901 ; Name:Mitochondrially encoded tRNA serine 1 (UCN) ; Symbol:MT-TS1 ; xref: GENATLAS:MT-TS1 ; xref: HGNC:7497 ; xref: OMIM:590080] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 Palmoplantar hyperkeratosis - hearing loss EXACT Palmoplantar hyperkeratosis - deafness EXACT Palmoplantar keratoderma - hearing loss EXACT Palmoplantar hyperkeratosis - hearing loss Methylmalonic acidemia without homocystinuria Methylmalonic acidemia Methylmalonic aciduria Methylmalonic aciduria without homocystinuria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355 Orphanet ID- 20854 Methylmalonic acidemia Methylmalonic aciduria Methylmalonic aciduria without homocystinuria EXACT Methylmalonic aciduria without homocystinuria EXACT Methylmalonic acidemia EXACT Methylmalonic aciduria Grayson-Wilbrandt corneal dystrophy GWCD GWCD prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375 Orphanet ID- 20855 EXACT GWCD Epithelial recurrent erosion dystrophy Dystrophia Helsinglandica Dystrophia Smolandiensis ERED Recurrent hereditary corneal erosions Orphanet ID- 20856 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381 Dystrophia Smolandiensis Dystrophia Helsinglandica Recurrent hereditary corneal erosions ERED prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:122400 EXACT Dystrophia Helsinglandica EXACT Recurrent hereditary corneal erosions EXACT Dystrophia Smolandiensis EXACT ERED Pre-Descemet corneal dystrophy PDCD Orphanet ID- 20857 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; PDCD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462 EXACT PDCD Congenital hereditary endothelial dystrophy II Autosomal recessive CHED Autosomal recessive congenital hereditary endothelial dystrophy CHED2 CHEDII Congenital hereditary endothelial dystrophy 2 Infantile hereditary endothelial dystrophy Maumenee corneal dystrophy Maumenee corneal dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Autosomal recessive congenital hereditary endothelial dystrophy Infantile hereditary endothelial dystrophy Autosomal recessive CHED Congenital hereditary endothelial dystrophy 2 OMIM:217700 Gene [OrphaNum:119680 ; Name:Solute carrier family 4, sodium bicarbonate transporter-like, member 11 ; Symbol:SLC4A11 ; xref: GENATLAS:SLC4A11 ; xref: HGNC:16438 ; xref: OMIM:610206 ; xref: UNIPROTKB/SWISSPROT:Q8NBS3 ; xref: ENSEMBL:ENSG00000088836] CHEDII Orphanet ID- 20862 CHED2 EXACT Autosomal recessive CHED EXACT Maumenee corneal dystrophy EXACT CHEDII EXACT Autosomal recessive congenital hereditary endothelial dystrophy EXACT Infantile hereditary endothelial dystrophy EXACT CHED2 EXACT Congenital hereditary endothelial dystrophy 2 X-linked endothelial corneal dystrophy XECD OMIM:300779 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621 Orphanet ID- 20863 XECD prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT XECD PYCR1-related DeBarsy syndrome PYCR1 deficiency Pyrroline-5-carboxylate reductase 1 deficiency Pyrroline-5-carboxylate reductase 1 deficiency OMIM:614438 Orphanet ID- 20864 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 Gene [OrphaNum:201595 ; Name:Pyrroline-5-carboxylate reductase 1 ; Symbol:PYCR1 ; xref: ENSEMBL:ENSG00000183010 ; xref: GENATLAS:PYCR1 ; xref: HGNC:9721 ; xref: OMIM:179035 ; xref: UNIPROTKB/SWISSPROT:P32322 ; xref: REACTOME:P32322] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; PYCR1 deficiency EXACT Pyrroline-5-carboxylate reductase 1 deficiency EXACT PYCR1 deficiency Blepharophimosis-intellectual deficit syndrome Orphanet ID- 20866 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Blepharophimosis-intellectual deficit syndrome, MKB type BMRS, MKB type BMRS, Maat-Kievit-Brunner type Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type Orphanet ID- 20867 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 BMRS, MKB type BMRS, Maat-Kievit-Brunner type EXACT BMRS, MKB type EXACT Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type EXACT BMRS, Maat-Kievit-Brunner type Blepharophimosis-intellectual deficit syndrome, Verloes type BMRS type V BMRS, Verloes type Blepharophimosis-intellectual deficit syndrome type V Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 BMRS type V Orphanet ID- 20869 BMRS, Verloes type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Blepharophimosis-intellectual deficit syndrome type V EXACT BMRS type V EXACT BMRS, Verloes type EXACT Blepharophimosis-intellectual deficit syndrome type V Ankylosing vertebral hyperostosis with tylosis Orphanet ID- 2087 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; OMIM:106400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206 MITF-related melanoma and renal cell carcinoma predisposition syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822 Gene [OrphaNum:123243 ; Name:Microphthalmia-associated transcription factor ; Symbol:MITF ; xref: GENATLAS:MITF ; xref: HGNC:7105 ; xref: OMIM:156845 ; xref: UNIPROTKB/SWISSPROT:O75030 ; xref: ENSEMBL:ENSG00000187098] OMIM:614456 Orphanet ID- 20874 Congenital dyserythropoietic anemia due to KLF1 mutation CDA due to KLF1 mutation Gene [OrphaNum:240663 ; Name:Kruppel-like factor 1 (erythroid) ; Symbol:KLF1 ; xref: GENATLAS:KLF1 ; xref: HGNC:6345 ; xref: OMIM:600599 ; xref: UNIPROTKB/SWISSPROT:Q13351 ; xref: ENSEMBL:ENSG00000105610] OMIM:613673 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; CDA due to KLF1 mutation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 Orphanet ID- 20875 EXACT CDA due to KLF1 mutation Constitutional dyserythropoietic anemia Orphanet ID- 20876 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Fatal infantile encephalopathy-pulmonary hypertension syndrome Lipoic acid synthase deficiency Gene [OrphaNum:289576 ; Name:NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) ; Symbol:NFU1 ; xref: ENSEMBL:ENSG00000169599 ; xref: HGNC:16287 ; xref: OMIM:608100 ; xref: GENATLAS:NFU1 ; xref: UNIPROTKB/SWISSPROT:Q9UMS0] Orphanet ID- 20878 Lipoic acid synthase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293838 EXACT Lipoic acid synthase deficiency Craniofacial-ulnar-renal syndrome 3MC syndrome Gene [OrphaNum:252117 ; Name:Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) ; Symbol:MASP1 ; xref: ENSEMBL:ENSG00000127241 ; xref: REACTOME:P48740 ; xref: GENATLAS:MASP1 ; xref: HGNC:6901 ; xref: UNIPROTKB/SWISSPROT:P48740 ; xref: OMIM:600521] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 3MC syndrome OMIM:265050 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:257920 Orphanet ID- 20879 OMIM:248340 Gene [OrphaNum:260599 ; Name:Collectin sub-family member 11 ; Symbol:COLEC11 ; xref: ENSEMBL:ENSG00000118004 ; xref: HGNC:17213 ; xref: OMIM:612502 ; xref: GENATLAS:COLEC11 ; xref: UNIPROTKB/SWISSPROT:Q9BWP8] EXACT 3MC syndrome Right temporal lobar atrophy Frontotemporal dementia, right temporal atrophy variant RTLA rvFTD rvFTD RTLA prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293848 Orphanet ID- 20880 Frontotemporal dementia, right temporal atrophy variant EXACT RTLA EXACT rvFTD EXACT Frontotemporal dementia, right temporal atrophy variant Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601346 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 Orphanet ID- 20883 Gene [OrphaNum:299156 ; Name:Regulatory factor X, 6 ; Symbol:RFX6 ; xref: HGNC:21478 ; xref: OMIM:612659 ; xref: GENATLAS:RFX6 ; xref: UNIPROTKB/SWISSPROT:Q8HWS3] Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form Gene [OrphaNum:122744 ; Name:Junction plakoglobin ; Symbol:JUP ; xref: GENATLAS:JUP ; xref: HGNC:6207 ; xref: OMIM:173325 ; xref: UNIPROTKB/SWISSPROT:P14923 ; xref: ENSEMBL:ENSG00000173801 ; xref: REACTOME:P14923] Gene [OrphaNum:159517 ; Name:Transmembrane protein 43 ; Symbol:TMEM43 ; xref: GENATLAS:TMEM43 ; xref: HGNC:28472 ; xref: OMIM:612048 ; xref: UNIPROTKB/SWISSPROT:Q9BTV4 ; xref: ENSEMBL:ENSG00000170876] Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] Gene [OrphaNum:120054 ; Name:Transforming growth factor, beta 3 ; Symbol:TGFB3 ; xref: GENATLAS:TGFB3 ; xref: HGNC:11769 ; xref: OMIM:190230 ; xref: UNIPROTKB/SWISSPROT:P10600 ; xref: REACTOME:P10600 ; xref: ENSEMBL:ENSG00000119699] Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Gene [OrphaNum:121193 ; Name:Desmoglein 2 ; Symbol:DSG2 ; xref: GENATLAS:DSG2 ; xref: HGNC:3049 ; xref: OMIM:125671 ; xref: UNIPROTKB/SWISSPROT:Q14126 ; xref: REACTOME:Q14126 ; xref: ENSEMBL:ENSG00000046604] Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:118443 ; Name:Ryanodine receptor 2 (cardiac) ; Symbol:RYR2 ; xref: GENATLAS:RYR2 ; xref: HGNC:10484 ; xref: OMIM:180902 ; xref: UNIPROTKB/SWISSPROT:Q92736 ; xref: ENSEMBL:ENSG00000198626] Gene [OrphaNum:121185 ; Name:Desmocollin 2 ; Symbol:DSC2 ; xref: GENATLAS:DSC2 ; xref: HGNC:3036 ; xref: OMIM:125645 ; xref: UNIPROTKB/SWISSPROT:Q02487 ; xref: ENSEMBL:ENSG00000134755] Gene [OrphaNum:117871 ; Name:Plakophilin 2 ; Symbol:PKP2 ; xref: GENATLAS:PKP2 ; xref: HGNC:9024 ; xref: OMIM:602861 ; xref: UNIPROTKB/SWISSPROT:Q99959 ; xref: ENSEMBL:ENSG00000057294] Orphanet ID- 20886 Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form EXACT Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924] Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] Orphanet ID- 20887 Gene [OrphaNum:120054 ; Name:Transforming growth factor, beta 3 ; Symbol:TGFB3 ; xref: GENATLAS:TGFB3 ; xref: HGNC:11769 ; xref: OMIM:190230 ; xref: UNIPROTKB/SWISSPROT:P10600 ; xref: REACTOME:P10600 ; xref: ENSEMBL:ENSG00000119699] Gene [OrphaNum:122744 ; Name:Junction plakoglobin ; Symbol:JUP ; xref: GENATLAS:JUP ; xref: HGNC:6207 ; xref: OMIM:173325 ; xref: UNIPROTKB/SWISSPROT:P14923 ; xref: ENSEMBL:ENSG00000173801 ; xref: REACTOME:P14923] Gene [OrphaNum:121185 ; Name:Desmocollin 2 ; Symbol:DSC2 ; xref: GENATLAS:DSC2 ; xref: HGNC:3036 ; xref: OMIM:125645 ; xref: UNIPROTKB/SWISSPROT:Q02487 ; xref: ENSEMBL:ENSG00000134755] Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Gene [OrphaNum:121193 ; Name:Desmoglein 2 ; Symbol:DSG2 ; xref: GENATLAS:DSG2 ; xref: HGNC:3049 ; xref: OMIM:125671 ; xref: UNIPROTKB/SWISSPROT:Q14126 ; xref: REACTOME:Q14126 ; xref: ENSEMBL:ENSG00000046604] Gene [OrphaNum:118443 ; Name:Ryanodine receptor 2 (cardiac) ; Symbol:RYR2 ; xref: GENATLAS:RYR2 ; xref: HGNC:10484 ; xref: OMIM:180902 ; xref: UNIPROTKB/SWISSPROT:Q92736 ; xref: ENSEMBL:ENSG00000198626] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:117871 ; Name:Plakophilin 2 ; Symbol:PKP2 ; xref: GENATLAS:PKP2 ; xref: HGNC:9024 ; xref: OMIM:602861 ; xref: UNIPROTKB/SWISSPROT:Q99959 ; xref: ENSEMBL:ENSG00000057294] Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form Gene [OrphaNum:159517 ; Name:Transmembrane protein 43 ; Symbol:TMEM43 ; xref: GENATLAS:TMEM43 ; xref: HGNC:28472 ; xref: OMIM:612048 ; xref: UNIPROTKB/SWISSPROT:Q9BTV4 ; xref: ENSEMBL:ENSG00000170876] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 EXACT Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form Familial isolated arrhythmogenic ventricular dysplasia, classic form Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] Gene [OrphaNum:117871 ; Name:Plakophilin 2 ; Symbol:PKP2 ; xref: GENATLAS:PKP2 ; xref: HGNC:9024 ; xref: OMIM:602861 ; xref: UNIPROTKB/SWISSPROT:Q99959 ; xref: ENSEMBL:ENSG00000057294] Gene [OrphaNum:118443 ; Name:Ryanodine receptor 2 (cardiac) ; Symbol:RYR2 ; xref: GENATLAS:RYR2 ; xref: HGNC:10484 ; xref: OMIM:180902 ; xref: UNIPROTKB/SWISSPROT:Q92736 ; xref: ENSEMBL:ENSG00000198626] Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form Orphanet ID- 20888 Gene [OrphaNum:121185 ; Name:Desmocollin 2 ; Symbol:DSC2 ; xref: GENATLAS:DSC2 ; xref: HGNC:3036 ; xref: OMIM:125645 ; xref: UNIPROTKB/SWISSPROT:Q02487 ; xref: ENSEMBL:ENSG00000134755] Gene [OrphaNum:159517 ; Name:Transmembrane protein 43 ; Symbol:TMEM43 ; xref: GENATLAS:TMEM43 ; xref: HGNC:28472 ; xref: OMIM:612048 ; xref: UNIPROTKB/SWISSPROT:Q9BTV4 ; xref: ENSEMBL:ENSG00000170876] Gene [OrphaNum:121193 ; Name:Desmoglein 2 ; Symbol:DSG2 ; xref: GENATLAS:DSG2 ; xref: HGNC:3049 ; xref: OMIM:125671 ; xref: UNIPROTKB/SWISSPROT:Q14126 ; xref: REACTOME:Q14126 ; xref: ENSEMBL:ENSG00000046604] Gene [OrphaNum:121196 ; Name:Desmoplakin ; Symbol:DSP ; xref: GENATLAS:DSP ; xref: HGNC:3052 ; xref: OMIM:125647 ; xref: UNIPROTKB/SWISSPROT:P15924 ; xref: ENSEMBL:ENSG00000096696 ; xref: REACTOME:P15924] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Gene [OrphaNum:120054 ; Name:Transforming growth factor, beta 3 ; Symbol:TGFB3 ; xref: GENATLAS:TGFB3 ; xref: HGNC:11769 ; xref: OMIM:190230 ; xref: UNIPROTKB/SWISSPROT:P10600 ; xref: REACTOME:P10600 ; xref: ENSEMBL:ENSG00000119699] Gene [OrphaNum:122744 ; Name:Junction plakoglobin ; Symbol:JUP ; xref: GENATLAS:JUP ; xref: HGNC:6207 ; xref: OMIM:173325 ; xref: UNIPROTKB/SWISSPROT:P14923 ; xref: ENSEMBL:ENSG00000173801 ; xref: REACTOME:P14923] Familial isolated arrhythmogenic ventricular dysplasia, classic form EXACT Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form EXACT Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form EXACT Familial isolated arrhythmogenic ventricular dysplasia, classic form Lethal occipital encephalocele-skeletal dysplasia syndrome Gene [OrphaNum:299166 ; Name:Cytochrome P450, family 26, subfamily B, polypeptide 1 ; Symbol:CYP26B1 ; xref: HGNC:20581 ; xref: OMIM:605207 ; xref: GENATLAS:CYP26B1 ; xref: UNIPROTKB/SWISSPROT:Q9NR63] OMIM:614416 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20889 Hypertelorism - hypospadias - polysyndactyly syndrome Acrofrontofacionasal dysostosis type 2 Acrofrontofacionasal syndrome type 2 Naguib-Richieri-Costa syndrome Naguib-Richieri-Costa syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Acrofrontofacionasal syndrome type 2 OMIM:239710 Acrofrontofacionasal dysostosis type 2 Orphanet ID- 2089 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211 EXACT Naguib-Richieri-Costa syndrome EXACT Acrofrontofacionasal syndrome type 2 EXACT Acrofrontofacionasal dysostosis type 2 Familial keratoconus with cataract Gene [OrphaNum:299169 ; Name:MicroRNA 184 ; Symbol:MIR184 ; xref: HGNC:31555 ; xref: OMIM:613146 ; xref: GENATLAS:MIR184] OMIM:614303 Orphanet ID- 20891 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936 Distal Xq28 microduplication syndrome Distal Dup(X)q(28) Distal trisomy Xq28 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939 Distal trisomy Xq28 Distal Dup(X)q(28) Orphanet ID- 20892 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Distal Dup(X)q(28) EXACT Distal trisomy Xq28 1p21.3 microdeletion syndrome Del(1)p(21.3) Monosomy 1p21.3 Del(1)p(21.3) Monosomy 1p21.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 Orphanet ID- 20893 EXACT Monosomy 1p21.3 EXACT Del(1)p(21.3) Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Gene [OrphaNum:299186 ; Name:Thiamin pyrophosphokinase 1 ; Symbol:TPK1 ; xref: HGNC:17358 ; xref: OMIM:606370 ; xref: GENATLAS:TPK1 ; xref: UNIPROTKB/SWISSPROT:Q9H3S4] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 OMIM:614458 Orphanet ID- 20894 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome HPPD Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome OMIM:614187 Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome Orphanet ID- 20895 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958 HPPD EXACT HPPD EXACT Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome Hypoinsulinemic hypoglycemia and body hemihypertrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 OMIM:240900 Orphanet ID- 20896 Gene [OrphaNum:201112 ; Name:V-akt murine thymoma viral oncogene homolog 2 ; Symbol:AKT2 ; xref: REACTOME:P31751 ; xref: ENSEMBL:ENSG00000105221 ; xref: GENATLAS:AKT2 ; xref: HGNC:392 ; xref: OMIM:164731 ; xref: UNIPROTKB/SWISSPROT:P31751] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Orphanet ID- 20897 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 EXACT Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Deficiency in anterior pituitary function-variable immunodeficiency syndrome DAVID syndrome DAVID syndrome Orphanet ID- 20898 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 EXACT DAVID syndrome Diastrophic dwarfism Diastrophic dysplasia prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:Q77.5 Diastrophic dysplasia Orphanet ID- 209 OMIM:222600 Gene [OrphaNum:118813 ; Name:Solute carrier family 26 (sulfate transporter), member 2 ; Symbol:SLC26A2 ; xref: GENATLAS:SLC26A2 ; xref: HGNC:10994 ; xref: OMIM:606718 ; xref: UNIPROTKB/SWISSPROT:P50443 ; xref: ENSEMBL:ENSG00000155850 ; xref: REACTOME:P50443] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 EXACT Diastrophic dysplasia Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome ROHHAD ROHHADNET Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors Orphanet ID- 20900 ROHHAD ROHHADNET prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987 EXACT Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors EXACT ROHHADNET EXACT ROHHAD Microcephaly-capillary malformation syndrome MIC-CM syndrome Microcephaly-cutaneous capillary malformation syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614261 Orphanet ID- 20901 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 MIC-CM syndrome Microcephaly-cutaneous capillary malformation syndrome EXACT Microcephaly-cutaneous capillary malformation syndrome EXACT MIC-CM syndrome Neonatal inflammatory skin and bowel disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614328 Orphanet ID- 20902 Gene [OrphaNum:299456 ; Name:ADAM metallopeptidase domain 17 ; Symbol:ADAM17 ; xref: GENATLAS:ADAM17 ; xref: HGNC:195 ; xref: OMIM:603639 ; xref: UNIPROTKB/SWISSPROT:P78536] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 2q31.1 microduplication syndrome Dup(2)(q31.1) Trisomy 2q31.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20903 Trisomy 2q31.1 Dup(2)(q31.1) EXACT Trisomy 2q31.1 EXACT Dup(2)(q31.1) Reunion island's Larsen syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20904 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294049 Multiple pterygium syndrome Orphanet ID- 20906 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294060 Renal-hepatic-pancreatic dysplasia Ivemark II syndrome Renohepaticopancreatic dysplasia OMIM:208540 Orphanet ID- 20908 Gene [OrphaNum:123878 ; Name:Nephronophthisis 3 (adolescent) ; Symbol:NPHP3 ; xref: GENATLAS:NPHP3 ; xref: HGNC:7907 ; xref: OMIM:608002 ; xref: UNIPROTKB/SWISSPROT:Q7Z494 ; xref: ENSEMBL:ENSG00000113971] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ivemark II syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 Renohepaticopancreatic dysplasia EXACT Renohepaticopancreatic dysplasia EXACT Ivemark II syndrome Hypertelorism-microtia-facial clefting syndrome Bixler-Christian-Gorlin syndrome HMC syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 OMIM:239800 Orphanet ID- 2091 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Bixler-Christian-Gorlin syndrome HMC syndrome EXACT HMC syndrome EXACT Bixler-Christian-Gorlin syndrome Amelia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20913 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925 Intercalary limb defects prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20914 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927 Terminal limb defects prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20915 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294929 Adactyly of hand Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294931 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20916 Split hand or/and split foot malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294935 Orphanet ID- 20918 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Brachydactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294937 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20919 Malignant hyperthermia - arthrogryposis - torticollis Froster-Iskenius-Waterson syndrome OMIM:217150 Froster-Iskenius-Waterson syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2092 EXACT Froster-Iskenius-Waterson syndrome Preaxial polydactyly of fingers Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294939 Orphanet ID- 20920 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Postaxial polydactyly of fingers Orphanet ID- 20921 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294942 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital deformities of limbs prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294944 Orphanet ID- 20922 Congenital deformities of fingers Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294947 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20923 Joint formation defects Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949 Orphanet ID- 20924 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital joint dislocations Orphanet ID- 20925 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294951 Limb overgrowth Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294953 Orphanet ID- 20926 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromes with limb reduction defects prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 Orphanet ID- 20927 Combined reduction defects of upper and lower limbs Orphanet ID- 20928 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syndromes with limb duplication, polydactyly, syndactyly and/or triphalangism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959 Orphanet ID- 20929 Maternal hyperthermia induced birth defects prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 Orphanet ID- 2093 Syndromes with synostoses of limbs Orphanet ID- 20930 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294961 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Popliteal pterygium syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20931 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 Lethal congenital contracture syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294965 Orphanet ID- 20932 Amelia of upper limb Orphanet ID- 20933 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967 Amelia of lower limb Orphanet ID- 20934 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Tetraamelia Total amelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20935 Total amelia EXACT Total amelia Humeral agenesis/hypoplasia Humeral intercalary meromelia Humeral intercalary meromelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20936 EXACT Humeral intercalary meromelia Congenital absence of upper arm and forearm with hand present Humeroradioulnar intercalary transverse meromelia Phocomelia Humeroradioulnar intercalary transverse meromelia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20937 Phocomelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975 EXACT Phocomelia EXACT Humeroradioulnar intercalary transverse meromelia Congenital absence of thigh and lower leg with foot present Femorotibiofibular intercalary transverse meromelia Orphanet ID- 20938 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Femorotibiofibular intercalary transverse meromelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977 EXACT Femorotibiofibular intercalary transverse meromelia Congenital absence of both forearm and hand Radioulnar terminal transverse meromelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 Orphanet ID- 20939 Radioulnar terminal transverse meromelia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Radioulnar terminal transverse meromelia Congenital absence of both lower leg and foot Tibiofibular terminal transverse meromelia Orphanet ID- 20940 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Tibiofibular terminal transverse meromelia EXACT Tibiofibular terminal transverse meromelia Acheiria Absent hand Orphanet ID- 20941 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983 Absent hand EXACT Absent hand Apodia Absent foot Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986 Absent foot Orphanet ID- 20942 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Absent foot Congenital absence/hypoplasia of thumb Thumb hypodactyly Thumb oligodactyly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20943 Thumb hypodactyly Thumb oligodactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988 EXACT Thumb hypodactyly EXACT Thumb oligodactyly Congenital absence/hypoplasia of fingers excluding thumb Digits 2-5 hypodactyly Digits 2-5 oligodactyly Orphanet ID- 20944 Digits 2-5 oligodactyly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Digits 2-5 hypodactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294990 EXACT Digits 2-5 hypodactyly EXACT Digits 2-5 oligodactyly Split hand Orphanet ID- 20945 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294992 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Split foot Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294994 Orphanet ID- 20946 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Brachydactyly of fingers Short fingers Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294996 Short fingers prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20947 EXACT Short fingers Brachydactyly of toes Short toes Orphanet ID- 20948 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294998 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Short toes EXACT Short toes Constriction rings syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:217100 Orphanet ID- 20949 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 Cervical hypertrichosis - peripheral neuropathy OMIM:239840 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 Orphanet ID- 2095 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Hyperphalangy Supernumerary phallanges Supernumerary phallanx Orphanet ID- 20950 Supernumerary phallanx prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002 Supernumerary phallanges EXACT Supernumerary phallanges EXACT Supernumerary phallanx Central polydactyly of fingers Central polydactyly of hand Mesoaxial polydactyly of fingers Mirror hand Orphanet ID- 20951 Central polydactyly of hand Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mesoaxial polydactyly of fingers Mirror hand EXACT Mesoaxial polydactyly of fingers EXACT Mirror hand EXACT Central polydactyly of hand Preaxial polydactyly of toes Bifid great toes Bifid halluces Bifid hallux Preaxial polydactyly of foot Bifid great toes Bifid hallux prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Bifid halluces Orphanet ID- 20952 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295006 OMIM:601759 Preaxial polydactyly of foot EXACT Preaxial polydactyly of foot EXACT Bifid great toes EXACT Bifid halluces EXACT Bifid hallux Postaxial polydactyly of toes Postaxial polydactyly of foot Orphanet ID- 20953 Postaxial polydactyly of foot prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295008 EXACT Postaxial polydactyly of foot Central polydactyly of toes Central polydactyly of foot Mesoaxial polydactyly of toes Mirror foot Central polydactyly of foot Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295010 Mesoaxial polydactyly of toes prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20954 Mirror foot EXACT Mirror foot EXACT Central polydactyly of foot EXACT Mesoaxial polydactyly of toes Syndactyly type 6 Mitten hand Syndactyly, mitten type Unilateral syndactyly of digits 2-5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mitten hand Syndactyly, mitten type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012 Unilateral syndactyly of digits 2-5 Orphanet ID- 20955 EXACT Syndactyly, mitten type EXACT Unilateral syndactyly of digits 2-5 EXACT Mitten hand Familial isolated clinodactyly of fingers Orphanet ID- 20956 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295014 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Camptodactyly of fingers OMIM:114200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295016 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20957 Congenital pseudoarthrosis of the tibia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20958 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018 Congenital pseudoarthrosis of the femur Orphanet ID- 20959 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital pseudoarthrosis of the fibula prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20960 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022 Congenital pseudoarthrosis of the radius prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024 Orphanet ID- 20961 Congenital pseudoarthrosis of the ulna Orphanet ID- 20962 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026 Tibio-fibular synostosis Tibio-fibular fusion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Tibio-fibular fusion Orphanet ID- 20963 EXACT Tibio-fibular fusion Congenital shoulder dislocation Orphanet ID- 20964 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295030 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital elbow dislocation Congenital radial head dislocation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032 Congenital radial head dislocation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20965 EXACT Congenital radial head dislocation Congenital knee dislocation prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295034 Orphanet ID- 20966 Congenital patella dislocation Orphanet ID- 20967 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036 Patella aplasia/hypoplasia, unilateral Orphanet ID- 20968 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295038 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Patella aplasia/hypoplasia, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295041 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20969 Hypertrichosis cubiti - short stature Hairy elbows MacDermot-Patton-Williams syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 Hairy elbows prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; MacDermot-Patton-Williams syndrome Orphanet ID- 2097 OMIM:139600 EXACT Hairy elbows EXACT MacDermot-Patton-Williams syndrome Macrodactyly of fingers Macrodactyly of hand Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295044 Macrodactyly of hand prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20970 EXACT Macrodactyly of hand Macrodactyly of toes Macrodactyly of foot prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Macrodactyly of foot Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295047 Orphanet ID- 20971 EXACT Macrodactyly of foot Upper limb hypertrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295049 Orphanet ID- 20972 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lower limb hypertrophy Orphanet ID- 20973 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295051 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Amelia of upper limb, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295053 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20974 Amelia of upper limb, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295055 Orphanet ID- 20975 Amelia of lower limb, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20976 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295057 Amelia of lower limb, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295059 Orphanet ID- 20977 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Humeral agenesis/hypoplasia, unilateral Humeral intercalary meromelia, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20978 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295061 Humeral intercalary meromelia, unilateral EXACT Humeral intercalary meromelia, unilateral Humeral agenesis/hypoplasia, bilateral Humeral intercalary meromelia, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295063 Orphanet ID- 20979 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Humeral intercalary meromelia, bilateral EXACT Humeral intercalary meromelia, bilateral Hypertrichosis lanuginosa congenita Hypertrichosis universalis OMIM:145700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q84.2 OMIM:307150 Orphanet ID- 2098 Hypertrichosis universalis EXACT Hypertrichosis universalis Femoral agenesis/hypoplasia, unilateral Femoral intercalary meromelia, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Femoral intercalary meromelia, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295065 Orphanet ID- 20980 EXACT Femoral intercalary meromelia, unilateral Femoral agenesis/hypoplasia, bilateral Femoral intercalary meromelia, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295067 Femoral intercalary meromelia, bilateral Orphanet ID- 20981 EXACT Femoral intercalary meromelia, bilateral Radial hemimelia, unilateral Radial longitidinal meromelia, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295069 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20982 Radial longitidinal meromelia, unilateral EXACT Radial longitidinal meromelia, unilateral Radial hemimelia, bilateral Radial longitidinal meromelia, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295071 Orphanet ID- 20983 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Radial longitidinal meromelia, bilateral EXACT Radial longitidinal meromelia, bilateral Ulnar hemimelia, bilateral Ulnar longitudinal meromelia, bilateral Ulnar longitudinal meromelia, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295073 Orphanet ID- 20984 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Ulnar longitudinal meromelia, bilateral Ulnar hemimelia, unilateral Ulnar longitudinal meromelia, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295075 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Ulnar longitudinal meromelia, unilateral Orphanet ID- 20985 EXACT Ulnar longitudinal meromelia, unilateral Tibial hemimelia, unilateral Tibial longitudinal meomelia, unilateral Orphanet ID- 20986 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295077 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Tibial longitudinal meomelia, unilateral EXACT Tibial longitudinal meomelia, unilateral Tibial hemimelia, bilateral Tibial longitudinal meomelia, bilateral Tibial longitudinal meomelia, bilateral Orphanet ID- 20987 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295079 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Tibial longitudinal meomelia, bilateral Fibular hemimelia, unilateral Fibular longitudinal meomelia, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295081 Fibular longitudinal meomelia, unilateral Orphanet ID- 20988 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Fibular longitudinal meomelia, unilateral Fibular hemimelia, bilateral Fibular longitudinal meomelia, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295083 Orphanet ID- 20989 Fibular longitudinal meomelia, bilateral EXACT Fibular longitudinal meomelia, bilateral Congenital absence of upper arm and forearm with hand present, unilateral Humeroradioulnar intercalary transverse meromelia, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295085 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Humeroradioulnar intercalary transverse meromelia, unilateral Orphanet ID- 20990 EXACT Humeroradioulnar intercalary transverse meromelia, unilateral Congenital absence of upper arm and forearm with hand present, bilateral Humeroradioulnar intercalary transverse meromelia, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Humeroradioulnar intercalary transverse meromelia, bilateral Orphanet ID- 20991 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295087 EXACT Humeroradioulnar intercalary transverse meromelia, bilateral Congenital absence of thigh and lower leg with foot present, unilateral Femorotibiofibular intercalary transverse meromelia, unilateral Femorotibiofibular intercalary transverse meromelia, unilateral Orphanet ID- 20992 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295089 EXACT Femorotibiofibular intercalary transverse meromelia, unilateral Congenital absence of thigh and lower leg with foot present, bilateral Femorotibiofibular intercalary transverse meromelia, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295091 Femorotibiofibular intercalary transverse meromelia, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20993 EXACT Femorotibiofibular intercalary transverse meromelia, bilateral Congenital absence of both forearm and hand, unilateral Radioulnar terminal transverse meromelia, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295093 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Radioulnar terminal transverse meromelia, unilateral Orphanet ID- 20994 EXACT Radioulnar terminal transverse meromelia, unilateral Congenital absence of both forearm and hand, bilateral Radioulnar terminal transverse meromelia, bilateral Radioulnar terminal transverse meromelia, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295095 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20995 EXACT Radioulnar terminal transverse meromelia, bilateral Congenital absence of both lower leg and foot, unilateral Tibiofibular terminal transverse meromelia, unilateral Tibiofibular terminal transverse meromelia, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295097 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20996 EXACT Tibiofibular terminal transverse meromelia, unilateral Congenital absence of both lower leg and foot, bilateral Tibiofibular terminal transverse meromelia, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295099 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Tibiofibular terminal transverse meromelia, bilateral Orphanet ID- 20997 EXACT Tibiofibular terminal transverse meromelia, bilateral Acheiria, unilateral Absent hand, unilateral Orphanet ID- 20998 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Absent hand, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295101 EXACT Absent hand, unilateral Acheiria, bilateral Absent hand, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295103 Absent hand, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 20999 EXACT Absent hand, bilateral Paroxysmal nocturnal hemoglobinuria Marchiafava-Micheli disease PNH prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Any age; Inheritance- Sporadic; OMIM:300818 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 Orphanet ID- 21 Gene [OrphaNum:231527 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class A ; Symbol:PIGA ; xref: OMIM:311770 ; xref: ENSEMBL:ENSG00000165195 ; xref: REACTOME:P37287 ; xref: GENATLAS:PIGA ; xref: HGNC:8957 ; xref: UNIPROTKB/SWISSPROT:P37287] ICD10:D59.5 Marchiafava-Micheli disease PNH EXACT PNH EXACT Marchiafava-Micheli disease Hypertryptophanemia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2100 OMIM:600627 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 ICD10:E70.8 Apodia, unilateral Absent foot, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Absent foot, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295105 Orphanet ID- 21000 EXACT Absent foot, unilateral Apodia, bilateral Absent foot, bilateral Absent foot, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295107 Orphanet ID- 21001 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Absent foot, bilateral Congenital absence/hypoplasia of thumb, unilateral Thumb hypodactyly, unilateral Thumb oligodactyly, unilateral Orphanet ID- 21002 Thumb hypodactyly, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295110 Thumb oligodactyly, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Thumb hypodactyly, unilateral EXACT Thumb oligodactyly, unilateral Congenital absence/hypoplasia of thumb, bilateral Thumb hypodactyly, bilateral Thumb oligodactyly, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295112 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Thumb hypodactyly, bilateral Orphanet ID- 21003 Thumb oligodactyly, bilateral EXACT Thumb oligodactyly, bilateral EXACT Thumb hypodactyly, bilateral Congenital absence/hypoplasia of fingers excluding thumb, bilateral Digits 2-5 hypodactyly, biilateral Digits 2-5 oligodactyly, biilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295114 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21004 Digits 2-5 oligodactyly, biilateral Digits 2-5 hypodactyly, biilateral EXACT Digits 2-5 hypodactyly, biilateral EXACT Digits 2-5 oligodactyly, biilateral Adactyly of foot, unilateral Toes absent, unilateral Orphanet ID- 21005 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295116 Gene [OrphaNum:123085 ; Name:Limb region 1 homolog (mouse) ; Symbol:LMBR1 ; xref: ENSEMBL:ENSG00000105983 ; xref: GENATLAS:LMBR1 ; xref: HGNC:13243 ; xref: OMIM:605522 ; xref: UNIPROTKB/SWISSPROT:Q8WVP7] Toes absent, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Toes absent, unilateral Adactyly of foot, bilateral Toes absent, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295118 Orphanet ID- 21006 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123085 ; Name:Limb region 1 homolog (mouse) ; Symbol:LMBR1 ; xref: ENSEMBL:ENSG00000105983 ; xref: GENATLAS:LMBR1 ; xref: HGNC:13243 ; xref: OMIM:605522 ; xref: UNIPROTKB/SWISSPROT:Q8WVP7] Toes absent, bilateral EXACT Toes absent, bilateral Split hand, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295120 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21007 Split hand, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295122 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21008 Split foot, unilateral Orphanet ID- 21009 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295124 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Split foot, bilateral Orphanet ID- 21010 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295126 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Brachydactyly of fingers, unilateral Short fingers, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21011 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295128 Short fingers, unilateral EXACT Short fingers, unilateral Brachydactyly of fingers, bilateral Short fingers, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Short fingers, bilateral Orphanet ID- 21012 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295130 EXACT Short fingers, bilateral Brachydactyly of toes, unilateral Short toes, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Short toes, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295132 Orphanet ID- 21013 EXACT Short toes, unilateral Brachydactyly of toes, bilateral Short toes, bilateral Short toes, bilateral Orphanet ID- 21014 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295134 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Short toes, bilateral Symbrachydactyly of hand and foot, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295136 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21015 Symbrachydactyly of hand and foot, bilateral Orphanet ID- 21016 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295138 Hyperphalangy, unilateral Hyperphalangy in digits 2-5 Supernumerary phallanges, unilateral Supernumerary phallanx, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295140 Supernumerary phallanges, unilateral Hyperphalangy in digits 2-5 Orphanet ID- 21017 Supernumerary phallanx, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Supernumerary phallanx, unilateral EXACT Hyperphalangy in digits 2-5 EXACT Supernumerary phallanges, unilateral Hyperphalangy, bilateral Supernumerary phallanges, bilateral Supernumerary phallanx, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295142 Orphanet ID- 21018 Supernumerary phallanx, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Supernumerary phallanges, bilateral EXACT Supernumerary phallanges, bilateral EXACT Supernumerary phallanx, bilateral Polydactyly of the thumb, unilateral Preaxial polydactyly type 1, unilateral Orphanet ID- 21019 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295144 Preaxial polydactyly type 1, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Preaxial polydactyly type 1, unilateral Hypodontia - dysplasia of nails Hypodontia - nail dysgenesis Tooth and nail syndrome Witkop syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:189500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 Witkop syndrome Hypodontia - nail dysgenesis Tooth and nail syndrome Gene [OrphaNum:123495 ; Name:Msh homeobox 1 ; Symbol:MSX1 ; xref: GENATLAS:MSX1 ; xref: HGNC:7391 ; xref: OMIM:142983 ; xref: UNIPROTKB/SWISSPROT:P28360 ; xref: ENSEMBL:ENSG00000163132] Orphanet ID- 2102 ICD10:Q87.8 EXACT Tooth and nail syndrome EXACT Hypodontia - nail dysgenesis EXACT Witkop syndrome Polydactyly of the thumb, bilateral Preaxial polydactyly type 1, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Preaxial polydactyly type 1, bilateral Orphanet ID- 21020 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295146 EXACT Preaxial polydactyly type 1, bilateral Polydactyly of a triphalangeal thumb, unilateral Preaxial polydactyly type 2, unilateral Unilateral PPD2 Preaxial polydactyly type 2, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295148 Unilateral PPD2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123085 ; Name:Limb region 1 homolog (mouse) ; Symbol:LMBR1 ; xref: ENSEMBL:ENSG00000105983 ; xref: GENATLAS:LMBR1 ; xref: HGNC:13243 ; xref: OMIM:605522 ; xref: UNIPROTKB/SWISSPROT:Q8WVP7] Orphanet ID- 21021 EXACT Unilateral PPD2 EXACT Preaxial polydactyly type 2, unilateral Polydactyly of a triphalangeal thumb, bilateral Bilateral PPD2 Preaxial polydactyly type 2, bilateral Bilateral PPD2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295150 Preaxial polydactyly type 2, bilateral Gene [OrphaNum:123085 ; Name:Limb region 1 homolog (mouse) ; Symbol:LMBR1 ; xref: ENSEMBL:ENSG00000105983 ; xref: GENATLAS:LMBR1 ; xref: HGNC:13243 ; xref: OMIM:605522 ; xref: UNIPROTKB/SWISSPROT:Q8WVP7] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21022 EXACT Preaxial polydactyly type 2, bilateral EXACT Bilateral PPD2 Polydactyly of an index finger, unilateral Preaxial polydactyly type 3, bilateral Preaxial polydactyly type 3, bilateral Orphanet ID- 21023 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295152 EXACT Preaxial polydactyly type 3, bilateral Polydactyly of an index finger, bilateral Preaxial polydactyly type 3, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295154 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Preaxial polydactyly type 3, bilateral Orphanet ID- 21024 EXACT Preaxial polydactyly type 3, bilateral Polysyndactyly, unilateral Preaxial polydactyly type 4, bilateral Preaxial polydactyly type 4, bilateral Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21025 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295159 EXACT Preaxial polydactyly type 4, bilateral Polysyndactyly, bilateral Preaxial polydactyly type 4, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295161 Preaxial polydactyly type 4, bilateral Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21026 EXACT Preaxial polydactyly type 4, bilateral Postaxial polydactyly type A, unilateral Orphanet ID- 21027 Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295163 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Postaxial polydactyly type A, bilateral Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295165 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21028 Postaxial polydactyly type B, unilateral Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295167 Orphanet ID- 21029 Corneal anesthesia - deafness - intellectual deficit Ramos-Arroyo syndrome OMIM:122430 Orphanet ID- 2103 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 Ramos-Arroyo syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; EXACT Ramos-Arroyo syndrome Postaxial polydactyly type B, bilateral Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] Orphanet ID- 21030 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295169 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Central polydactyly of fingers, unilateral Mesoaxial polydactyly of fingers, unilateral Mirror hand, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295171 Mirror hand, unilateral Mesoaxial polydactyly of fingers, unilateral Orphanet ID- 21031 EXACT Mesoaxial polydactyly of fingers, unilateral EXACT Mirror hand, unilateral Central polydactyly of fingers, bilateral Mesoaxial polydactyly of fingers, bilateral Mirror hand, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295173 Orphanet ID- 21032 Mirror hand, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mesoaxial polydactyly of fingers, bilateral EXACT Mirror hand, bilateral EXACT Mesoaxial polydactyly of fingers, bilateral Preaxial polydactyly of toes, unilateral Bifid great toes, unilateral Bifid hallux, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295175 Bifid hallux, unilateral Orphanet ID- 21033 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Bifid great toes, unilateral EXACT Bifid great toes, unilateral EXACT Bifid hallux, unilateral Preaxial polydactyly of toes, bilateral Bifid great toes, bilateral Bifid halluces, bilateral Bifid hallux, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295177 Orphanet ID- 21034 Bifid halluces, bilateral Bifid hallux, bilateral Bifid great toes, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Bifid hallux, bilateral EXACT Bifid great toes, bilateral EXACT Bifid halluces, bilateral Postaxial polydactyly of toes, unilateral Orphanet ID- 21035 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295179 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Postaxial polydactyly of toes, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295181 Orphanet ID- 21036 Central polydactyly of toes, unilateral Mesoaxial polydactyly of toes, unilateral Mirror foot, unilateral Orphanet ID- 21037 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295183 Mirror foot, unilateral Mesoaxial polydactyly of toes, unilateral EXACT Mesoaxial polydactyly of toes, unilateral EXACT Mirror foot, unilateral Central polydactyly of toes, bilateral Mesoaxial polydactyly of toes, bilateral Mirror foot, bilateral Mesoaxial polydactyly of toes, bilateral Orphanet ID- 21038 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295185 Mirror foot, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Mirror foot, bilateral EXACT Mesoaxial polydactyly of toes, bilateral Zygodactyly type 1 SD1, Weidenreich type SD1a Syndactyly type 1, Weidenreich type Syndactyly type 1a Zygodactyly, Weidenreich type OMIM:609815 SD1, Weidenreich type Syndactyly type 1a prevalence- null; AgeOfOnset- null; AgeOfDeath-null; SD1a Syndactyly type 1, Weidenreich type Zygodactyly, Weidenreich type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187 Orphanet ID- 21039 EXACT Syndactyly type 1a EXACT SD1, Weidenreich type EXACT SD1a EXACT Zygodactyly, Weidenreich type EXACT Syndactyly type 1, Weidenreich type Dilated cardiomyopathy - hypergonadotropic hypogonadism Cardiogenital syndrome Malouf syndrome Najjar syndrome Cardiogenital syndrome Orphanet ID- 2104 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] OMIM:212112 Najjar syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Malouf syndrome EXACT Najjar syndrome EXACT Malouf syndrome EXACT Cardiogenital syndrome Zygodactyly type 2 SD1, Lueken type SD1b Syndactyly type 1, Lueken type Syndactyly type 1b Zygodactyly, Lueken type Orphanet ID- 21040 SD1b SD1, Lueken type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189 Syndactyly type 1, Lueken type Zygodactyly, Lueken type Syndactyly type 1b EXACT SD1b EXACT Syndactyly type 1b EXACT Syndactyly type 1, Lueken type EXACT Zygodactyly, Lueken type EXACT SD1, Lueken type Zygodactyly type 3 SD1, Montagu type SD1c Syndactyly type 1, Montagu type Syndactyly type 1c Zygodactyly, Montagu type Syndactyly type 1, Montagu type Zygodactyly, Montagu type SD1, Montagu type SD1c Syndactyly type 1c Orphanet ID- 21041 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT SD1, Montagu type EXACT Zygodactyly, Montagu type EXACT Syndactyly type 1, Montagu type EXACT Syndactyly type 1c EXACT SD1c Zygodactyly type 4 SD1, Castilla type SD1d Syndactyly type 1, Castilla type Syndactyly type 1d Zygodactyly, Castilla type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193 Syndactyly type 1, Castilla type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Zygodactyly, Castilla type Syndactyly type 1d SD1d SD1, Castilla type Orphanet ID- 21042 EXACT SD1d EXACT Syndactyly type 1d EXACT SD1, Castilla type EXACT Zygodactyly, Castilla type EXACT Syndactyly type 1, Castilla type Synpolydactyly type 1 SD2, Vordingborg type SD2a SPD, Vordingborg type SPD1 Synpolydactyly, Vordingborg type Synpolydactyly, Vordingborg type SD2a OMIM:186000 SPD1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 Gene [OrphaNum:122466 ; Name:Homeobox D13 ; Symbol:HOXD13 ; xref: GENATLAS:HOXD13 ; xref: HGNC:5136 ; xref: OMIM:142989 ; xref: UNIPROTKB/SWISSPROT:P35453 ; xref: ENSEMBL:ENSG00000128714] SD2, Vordingborg type Orphanet ID- 21043 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; SPD, Vordingborg type EXACT SPD, Vordingborg type EXACT SPD1 EXACT Synpolydactyly, Vordingborg type EXACT SD2a EXACT SD2, Vordingborg type Synpolydactyly type 2 SD2, Debeer type SD2b SPD, Debeer type SPD2 Synpolydactyly, Debeer type SD2b OMIM:608180 SD2, Debeer type Synpolydactyly, Debeer type Orphanet ID- 21044 SPD2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; SPD, Debeer type Gene [OrphaNum:139855 ; Name:Fibulin 1 ; Symbol:FBLN1 ; xref: GENATLAS:FBLN1 ; xref: HGNC:3600 ; xref: OMIM:135820 ; xref: UNIPROTKB/SWISSPROT:P23142 ; xref: ENSEMBL:ENSG00000077942] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 EXACT SD2b EXACT SPD2 EXACT Synpolydactyly, Debeer type EXACT SD2, Debeer type EXACT SPD, Debeer type Synpolydactyly type 3 SD2, Malik type SD2c SPD, Malik type SPD3 Synpolydactyly, Malik type Orphanet ID- 21045 SPD, Malik type SD2c prevalence- null; AgeOfOnset- null; AgeOfDeath-null; SPD3 SD2, Malik type OMIM:610234 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199 Synpolydactyly, Malik type EXACT SPD, Malik type EXACT Synpolydactyly, Malik type EXACT SD2, Malik type EXACT SD2c EXACT SPD3 Congenital vertical talus, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201 Gene [OrphaNum:189174 ; Name:Homeobox D10 ; Symbol:HOXD10 ; xref: UNIPROTKB/SWISSPROT:P28358 ; xref: GENATLAS:HOXD10 ; xref: HGNC:5133 ; xref: OMIM:142984 ; xref: ENSEMBL:ENSG00000128710] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21046 Congenital vertical talus, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203 Orphanet ID- 21047 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:189174 ; Name:Homeobox D10 ; Symbol:HOXD10 ; xref: UNIPROTKB/SWISSPROT:P28358 ; xref: GENATLAS:HOXD10 ; xref: HGNC:5133 ; xref: OMIM:142984 ; xref: ENSEMBL:ENSG00000128710] Humero-radio-ulnar synostosis, unilateral Humero-radio-ulnar fusion, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21048 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295205 Humero-radio-ulnar fusion, unilateral EXACT Humero-radio-ulnar fusion, unilateral Humero-radio-ulnar synostosis, bilateral Humero-radio-ulnar fusion, bilateral Orphanet ID- 21049 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295207 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Humero-radio-ulnar fusion, bilateral EXACT Humero-radio-ulnar fusion, bilateral Hypogonadotropic hypogonadism - frontoparietal alopecia Salti-Salem syndrome Orphanet ID- 2105 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Salti-Salem syndrome EXACT Salti-Salem syndrome Humero-radial synostosis, unilateral Humero-radial fusion, unilateral Humero-radial fusion, unilateral Orphanet ID- 21050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295209 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Humero-radial fusion, unilateral Humero-radial synostosis, bilateral Humero-radial fusion, bilateral Humero-radial fusion, bilateral Orphanet ID- 21051 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295211 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Humero-radial fusion, bilateral Humero-ulnar synostosis, unilateral Humero-ulnar fusion, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21052 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295213 Humero-ulnar fusion, unilateral EXACT Humero-ulnar fusion, unilateral Humero-ulnar synostosis, bilateral Humero-ulnar fusion, bilateral Orphanet ID- 21053 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295215 Humero-ulnar fusion, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Humero-ulnar fusion, bilateral Radio-ulnar synostosis, unilateral Radio-ulnar fusion, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295217 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Radio-ulnar fusion, unilateral Orphanet ID- 21054 EXACT Radio-ulnar fusion, unilateral Radio-ulnar synostosis, bilateral Radio-ulnar fusion, bilateral Orphanet ID- 21055 Radio-ulnar fusion, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295219 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Radio-ulnar fusion, bilateral Madelung deformity, unilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295221 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21056 Madelung deformity, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295223 Orphanet ID- 21057 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital elbow dislocation, unilateral Orphanet ID- 21058 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295225 Congenital elbow dislocation, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295227 Orphanet ID- 21059 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital genu recurvatum Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295229 Orphanet ID- 21060 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital genu flexum Orphanet ID- 21061 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295232 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital patella dislocation, unilateral Orphanet ID- 21062 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295234 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital patella dislocation, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21063 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295237 Macrodactyly of fingers, unilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21064 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 Macrodactyly of fingers, bilateral prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21065 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295241 Macrodactyly of toes, unilateral Orphanet ID- 21066 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 Macrodactyly of toes, bilateral Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295245 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21067 Primary hypergonadotropic hypogonadism - partial alopecia Al Awadi-Farag-Teebi syndrome OMIM:241090 Orphanet ID- 2107 Al Awadi-Farag-Teebi syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232 EXACT Al Awadi-Farag-Teebi syndrome Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies Sohval-Soffer syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Sohval-Soffer syndrome Orphanet ID- 2108 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 OMIM:307500 EXACT Sohval-Soffer syndrome Thiamin metabolism disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644 Orphanet ID- 21080 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypogonadotropic hypogonadism - retinitis pigmentosa Chang-Davidson-Carlson syndrome prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Unknown; Chang-Davidson-Carlson syndrome Orphanet ID- 2109 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 EXACT Chang-Davidson-Carlson syndrome Hypokalemic periodic paralysis Westphall disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 ICD10:G72.3 Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499] Westphall disease Orphanet ID- 211 OMIM:170400 OMIM:613345 Gene [OrphaNum:119157 ; Name:Calcium channel, voltage-dependent, L type, alpha 1S subunit ; Symbol:CACNA1S ; xref: OMIM:114208 ; xref: UNIPROTKB/SWISSPROT:Q13698 ; xref: GENATLAS:CACNA1S ; xref: HGNC:1397 ; xref: REACTOME:Q13698 ; xref: IUPHAR:528 ; xref: ENSEMBL:ENSG00000081248] Gene [OrphaNum:122773 ; Name:Potassium voltage-gated channel, Isk-related family, member 3 ; Symbol:KCNE3 ; xref: GENATLAS:KCNE3 ; xref: HGNC:6243 ; xref: OMIM:604433 ; xref: UNIPROTKB/SWISSPROT:Q9Y6H6 ; xref: ENSEMBL:ENSG00000175538] prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Westphall disease Hypoparathyroidism - deafness - renal disease Barakat syndrome HDR syndrome HDR syndrome Orphanet ID- 2110 OMIM:146255 Barakat syndrome Gene [OrphaNum:122033 ; Name:GATA binding protein 3 ; Symbol:GATA3 ; xref: GENATLAS:GATA3 ; xref: HGNC:4172 ; xref: OMIM:131320 ; xref: UNIPROTKB/SWISSPROT:P23771 ; xref: ENSEMBL:ENSG00000107485 ; xref: REACTOME:P23771] ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Barakat syndrome EXACT HDR syndrome Ehlers-Danlos syndrome, kyphoscoliotic and deafness type EDS with progressive kyphoscoliosis, myopathy, and deafness EDS with progressive kyphoscoliosis, myopathy, and hearing loss EDS, kyphoscoliotic and hearing loss type Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type OMIM:614557 Orphanet ID- 21100 EDS, kyphoscoliotic and hearing loss type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:304165 ; Name:FK506 binding protein 14, 22 kDa ; Symbol:FKBP14 ; xref: HGNC:18625 ; xref: OMIM:614505 ; xref: GENATLAS:FKBP14 ; xref: UNIPROTKB/SWISSPROT:Q9NWM8] Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 EDS with progressive kyphoscoliosis, myopathy, and hearing loss EDS with progressive kyphoscoliosis, myopathy, and deafness EXACT Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss EXACT Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type EXACT Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness EXACT EDS, kyphoscoliotic and hearing loss type EXACT EDS with progressive kyphoscoliosis, myopathy, and deafness EXACT EDS with progressive kyphoscoliosis, myopathy, and hearing loss Connective tissue disorder due to lysyl hydroxylase-3 deficiency Bone fragility-contractures-arterial rupture-deafness syndrome Connective tissue disorder due to LH3 deficiency Orphanet ID- 21104 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Bone fragility-contractures-arterial rupture-deafness syndrome OMIM:612394 Connective tissue disorder due to LH3 deficiency Gene [OrphaNum:304172 ; Name:Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ; Symbol:PLOD3 ; xref: HGNC:9083 ; xref: OMIM:603066 ; xref: GENATLAS:PLOD3 ; xref: UNIPROTKB/SWISSPROT:O60568] EXACT Connective tissue disorder due to LH3 deficiency EXACT Bone fragility-contractures-arterial rupture-deafness syndrome Infantile regressive hypertriglyceridemia and hepatosteatosis Infantile regressive hypertriglyceridemia and fatty liver Orphanet ID- 21105 Infantile regressive hypertriglyceridemia and fatty liver prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 OMIM:614480 Gene [OrphaNum:303828 ; Name:Glycerol-3-phosphate dehydrogenase 1 (soluble) ; Symbol:GPD1 ; xref: HGNC:4455 ; xref: GENATLAS:GPD1 ; xref: OMIM:138420 ; xref: UNIPROTKB/SWISSPROT:P21695] EXACT Infantile regressive hypertriglyceridemia and fatty liver Severe congenital hypochromic anemia with ringed sideroblasts Severe congenital hypochromic sideroblastic anemia with Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 Orphanet ID- 21106 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Severe congenital hypochromic sideroblastic anemia with EXACT Severe congenital hypochromic sideroblastic anemia with 11p15.4 microduplication syndrome Dup(11)p(15.4) trisomy 11p15.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; trisomy 11p15.4 Orphanet ID- 21107 Dup(11)p(15.4) EXACT Dup(11)p(15.4) EXACT trisomy 11p15.4 Congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataract-deafness-severe developmental delay syndrome Lethal neurodegenerative disorder due to copper transport defect prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614482 Lethal neurodegenerative disorder due to copper transport defect Orphanet ID- 21109 Congenital cataract-deafness-severe developmental delay syndrome Gene [OrphaNum:180215 ; Name:Solute carrier family 33 (acetyl-CoA transporter), member 1 ; Symbol:SLC33A1 ; xref: ENSEMBL:ENSG00000169359 ; xref: GENATLAS:SLC33A1 ; xref: HGNC:95 ; xref: OMIM:603690 ; xref: UNIPROTKB/SWISSPROT:O00400 ; xref: REACTOME:O00400] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 EXACT Congenital cataract-deafness-severe developmental delay syndrome EXACT Lethal neurodegenerative disorder due to copper transport defect Familial isolated hypoparathyroidism ICD10:Q89.2 ICD10:E20.8 OMIM:307700 OMIM:146200 Orphanet ID- 2111 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238 Autosomal dominant Charcot-Marie-Tooth disease type 2P CMT2P Orphanet ID- 21110 CMT2P OMIM:614436 Gene [OrphaNum:303011 ; Name:Leucine rich repeat and sterile alpha motif containing 1 ; Symbol:LRSAM1 ; xref: HGNC:25135 ; xref: OMIM:610933 ; xref: GENATLAS:LRSAM1 ; xref: UNIPROTKB/SWISSPROT:Q6UWE0] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 EXACT CMT2P Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome OMIM:609057 Orphanet ID- 21112 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 Gene [OrphaNum:304247 ; Name:CD151 molecule (Raph blood group) ; Symbol:CD151 ; xref: HGNC:1630 ; xref: OMIM:602243 ; xref: GENATLAS:CD151 ; xref: UNIPROTKB/SWISSPROT:P48509] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome EXACT Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome Congenital blindness due to retinal nonattachment : Non syndromic congenital retinal nonattachment Congenital retinal detachment NCRNA disease Gene [OrphaNum:298500 ; Name:Atonal homolog 7 (Drosophila) ; Symbol:ATOH7 ; xref: HGNC:13907 ; xref: OMIM:609875 ; xref: GENATLAS:ATOH7 ; xref: UNIPROTKB/SWISSPROT:Q8N100] : Non syndromic congenital retinal nonattachment NCRNA disease OMIM:221900 Orphanet ID- 21113 Congenital retinal detachment prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300337 EXACT Congenital retinal detachment EXACT NCRNA disease EXACT : Non syndromic congenital retinal nonattachment Autosomal recessive systemic lupus erythematosus Autosomal recessive SLE Familial SLE Familial systemic lupus erythematosus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300345 Autosomal recessive SLE Orphanet ID- 21114 Familial SLE Gene [OrphaNum:291856 ; Name:Deoxyribonuclease I-like 3 ; Symbol:DNASE1L3 ; xref: OMIM:602244 ; xref: GENATLAS:DNASE1L3 ; xref: UNIPROTKB/SWISSPROT:Q13609 ; xref: HGNC:2959 ; xref: ENSEMBL:ENSG00000163687] Familial systemic lupus erythematosus OMIM:614420 EXACT Familial SLE EXACT Familial systemic lupus erythematosus EXACT Autosomal recessive SLE Familial atypical cold urticaria Atypical FCAS FACU Familial atypical cold autoinflammatory syndrome Familial cold urticarial with common variable immunodeficiency FACU Gene [OrphaNum:303819 ; Name:Phospholipase C, gamma 2 (phosphatidylinositol-specific) ; Symbol:PLCG2 ; xref: HGNC:9066 ; xref: OMIM:600220 ; xref: GENATLAS:PLCG2 ; xref: UNIPROTKB/SWISSPROT:P16885] OMIM:614468 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial cold urticarial with common variable immunodeficiency Familial atypical cold autoinflammatory syndrome Orphanet ID- 21115 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300359 Atypical FCAS EXACT Familial atypical cold autoinflammatory syndrome EXACT Familial cold urticarial with common variable immunodeficiency EXACT FACU EXACT Atypical FCAS Familial infantile gigantism Hereditary infantile gigantism Hereditary pituitary hyperplasia Infantile gigantism due to pituitary hyperplasia Orphanet ID- 21116 Hereditary infantile gigantism Infantile gigantism due to pituitary hyperplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary pituitary hyperplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373 EXACT Hereditary infantile gigantism EXACT Hereditary pituitary hyperplasia EXACT Infantile gigantism due to pituitary hyperplasia Progeroid and marfanoid aspect-lipodystrophy syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300382 Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] Orphanet ID- 21117 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239 Orphanet ID- 2112 OMIM:307700 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; ICD10:E20.8 Gene [OrphaNum:159623 ; Name:Glial cells missing homolog 2 (Drosophila) ; Symbol:GCM2 ; xref: GENATLAS:GCM2 ; xref: HGNC:4198 ; xref: OMIM:603716 ; xref: UNIPROTKB/SWISSPROT:O75603 ; xref: ENSEMBL:ENSG00000124827] Multiple congenital anomalies-hypotonia-seizures syndrome type 2 MCAHS type 2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21120 Gene [OrphaNum:231527 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class A ; Symbol:PIGA ; xref: OMIM:311770 ; xref: ENSEMBL:ENSG00000165195 ; xref: REACTOME:P37287 ; xref: GENATLAS:PIGA ; xref: HGNC:8957 ; xref: UNIPROTKB/SWISSPROT:P37287] OMIM:300868 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 MCAHS type 2 EXACT MCAHS type 2 Pseudohypoaldosteronism type 2D PHA2D prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:614495 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 PHA2D Gene [OrphaNum:303801 ; Name:Kelch-like 3 (Drosophila) ; Symbol:KLHL3 ; xref: HGNC:6354 ; xref: OMIM:605775 ; xref: GENATLAS:KLHL3 ; xref: UNIPROTKB/SWISSPROT:Q9UH77] Orphanet ID- 21125 EXACT PHA2D Pseudohypoaldosteronism type 2E PHA2E Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 Orphanet ID- 21126 PHA2E Gene [OrphaNum:303805 ; Name:Cullin 3 ; Symbol:CUL3 ; xref: HGNC:2553 ; xref: OMIM:603136 ; xref: GENATLAS:CUL3 ; xref: UNIPROTKB/SWISSPROT:Q13618] OMIM:614496 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT PHA2E CDG syndrome type IR CDG1R Carbohydrate deficient glycoprotein syndrome type IR Congenital disorder of glycosylation type 1R Congenital disorder of glycosylation type IR prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital disorder of glycosylation type IR Carbohydrate deficient glycoprotein syndrome type IR CDG1R Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 Congenital disorder of glycosylation type 1R OMIM:614507 Orphanet ID- 21127 Gene [OrphaNum:303832 ; Name:Dolichyl-diphosphooligosaccharide--protein glycosyltransferase ; Symbol:DDOST ; xref: HGNC:2728 ; xref: GENATLAS:DDOST ; xref: OMIM:602202 ; xref: UNIPROTKB/SWISSPROT:P39656] EXACT CDG1R EXACT Carbohydrate deficient glycoprotein syndrome type IR EXACT Congenital disorder of glycosylation type IR EXACT Congenital disorder of glycosylation type 1R Autosomal recessive infantile hypercalcemia Familial infantile hypercalcemia with suppressed intact parathyroid hormone Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 OMIM:143880 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial infantile hypercalcemia with suppressed intact parathyroid hormone Orphanet ID- 21128 Gene [OrphaNum:279838 ; Name:Cytochrome P450, family 24, subfamily A, polypeptide 1 ; Symbol:CYP24A1 ; xref: REACTOME:Q07973 ; xref: ENSEMBL:ENSG00000019186 ; xref: HGNC:2602 ; xref: OMIM:126065 ; xref: GENATLAS:CYP24A1 ; xref: UNIPROTKB/SWISSPROT:Q07973] EXACT Familial infantile hypercalcemia with suppressed intact parathyroid hormone Megacystis - microcolon - intestinal hypoperistalsis - hydronephrosis Berdon syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 Berdon syndrome Orphanet ID- 2113 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:249210 ICD10:Q43.8 EXACT Berdon syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Gene [OrphaNum:226013 ; Name:Tubulin, beta 3 ; Symbol:TUBB3 ; xref: GENATLAS:TUBB3 ; xref: HGNC:20772 ; xref: OMIM:602661 ; xref: UNIPROTKB/SWISSPROT:Q13509 ; xref: ENSEMBL:ENSG00000198211 ; xref: REACTOME:Q13509] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 21132 OMIM:614039 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 Polymicrogyria due to TUBB2B mutation Orphanet ID- 21133 OMIM:610031 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:201538 ; Name:Tubulin, beta 2B ; Symbol:TUBB2B ; xref: ENSEMBL:ENSG00000137285 ; xref: HGNC:30829 ; xref: REACTOME:Q9BVA1 ; xref: OMIM:612850 ; xref: UNIPROTKB/SWISSPROT:Q9BVA1 ; xref: GENATLAS:TUBB2B] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 Oligodontia - cancer predisposition syndrome Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300576 Gene [OrphaNum:118954 ; Name:Axin 2 (conductin, axil) ; Symbol:AXIN2 ; xref: GENATLAS:AXIN2 ; xref: HGNC:904 ; xref: OMIM:604025 ; xref: UNIPROTKB/SWISSPROT:Q9Y2T1 ; xref: ENSEMBL:ENSG00000168646] Orphanet ID- 21134 OMIM:608615 EXACT Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome ALS2-related motor neuron disease prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300601 Orphanet ID- 21136 Juvenile Amyotrophic lateral sclerosis JALS Juvenile Charcot disease Juvenile Lou-Gehrig disease JALS Juvenile Lou-Gehrig disease Orphanet ID- 21137 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Juvenile Charcot disease Gene [OrphaNum:119644 ; Name:Amyotrophic lateral sclerosis 2 (juvenile) ; Symbol:ALS2 ; xref: ENSEMBL:ENSG00000003393 ; xref: GENATLAS:ALS2 ; xref: HGNC:443 ; xref: OMIM:606352 ; xref: UNIPROTKB/SWISSPROT:Q96Q42] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 OMIM:205100 EXACT Juvenile Lou-Gehrig disease EXACT Juvenile Charcot disease EXACT JALS Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Orphanet ID- 21138 OMIM:115200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 Ulna hypoplasia - intellectual deficit OMIM:276821 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 Orphanet ID- 2119 Hyperkalemic periodic paralysis Adynamia epidodica hereditaria Familial HyperPP Familial hyperkalemic periodic paralysis Gamstorp disease Gamstorp episodic adynamy HYPP HyperKPP HyperPP Hyperkalemic PP Primary hyperPP Primary hyperkalemic periodic paralysis Orphanet ID- 212 Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499] HyperPP Primary hyperPP prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gamstorp disease Hyperkalemic PP Gamstorp episodic adynamy Primary hyperkalemic periodic paralysis ICD10:G72.3 HyperKPP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 Familial HyperPP Adynamia epidodica hereditaria OMIM:170500 HYPP Familial hyperkalemic periodic paralysis EXACT Hyperkalemic PP EXACT HyperPP EXACT Gamstorp episodic adynamy EXACT Primary hyperkalemic periodic paralysis EXACT Primary hyperPP EXACT Familial hyperkalemic periodic paralysis EXACT Familial HyperPP EXACT Gamstorp disease EXACT Adynamia epidodica hereditaria EXACT HYPP EXACT HyperKPP Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism Bosma-Henkin-Christiansen syndrome OMIM:603457 Orphanet ID- 2120 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 Bosma-Henkin-Christiansen syndrome EXACT Bosma-Henkin-Christiansen syndrome Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema Schmitt-Gillenwater-Kelly syndrome Schmitt-Gillenwater-Kelly syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:179250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252 Orphanet ID- 2122 EXACT Schmitt-Gillenwater-Kelly syndrome Pancreatic hypoplasia - diabetes - heart disease Yorifuji-Okuno syndrome Gene [OrphaNum:291853 ; Name:GATA binding protein 6 ; Symbol:GATA6 ; xref: GENATLAS:GATA6 ; xref: HGNC:4174 ; xref: OMIM:601656 ; xref: ENSEMBL:ENSG00000141448 ; xref: UNIPROTKB/SWISSPROT:Q92908] Yorifuji-Okuno syndrome Orphanet ID- 2123 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 OMIM:600001 EXACT Yorifuji-Okuno syndrome Fibulo-ulnar hypoplasia - renal anomalies Saito-Kuba-Tsuruta syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 Saito-Kuba-Tsuruta syndrome OMIM:228940 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2124 EXACT Saito-Kuba-Tsuruta syndrome Familial primary pulmonary hypoplasia OMIM:265430 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2125 ICD10:Q33.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 Hypospadias - intellectual deficit, Goldblatt type Goldblatt-Wallis syndrome OMIM:241760 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 Goldblatt-Wallis syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2129 EXACT Goldblatt-Wallis syndrome Pallister-Hall syndrome Hypothalamic hamartoblastoma syndrome OMIM:146510 Hypothalamic hamartoblastoma syndrome ICD10:D33.0 Orphanet ID- 2130 Gene [OrphaNum:158595 ; Name:Transcription factor 4 ; Symbol:TCF4 ; xref: REACTOME:P15884 ; xref: GENATLAS:TCF4 ; xref: HGNC:11634 ; xref: OMIM:602272 ; xref: UNIPROTKB/SWISSPROT:P15884 ; xref: ENSEMBL:ENSG00000196628] Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 EXACT Hypothalamic hamartoblastoma syndrome Hypotrichosis-intellectual deficit, Lopes type Lopes-Marques de Faria syndrome Orphanet ID- 2133 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 Lopes-Marques de Faria syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Lopes-Marques de Faria syndrome Ichthyosis-cheek-eyebrow syndrome Sidransky-Feinstein-Goodman syndrome Sidransky-Feinstein-Goodman syndrome Orphanet ID- 2134 OMIM:146720 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2267 EXACT Sidransky-Feinstein-Goodman syndrome Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit Jagell-Holmgren-Hofer syndrome Orphanet ID- 2135 OMIM:242510 Jagell-Holmgren-Hofer syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 EXACT Jagell-Holmgren-Hofer syndrome CHILD syndrome Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects Orphanet ID- 2136 ICD10:Q77.3 Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects OMIM:308050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked dominant; Gene [OrphaNum:123942 ; Name:NAD(P) dependent steroid dehydrogenase-like ; Symbol:NSDHL ; xref: GENATLAS:NSDHL ; xref: HGNC:13398 ; xref: OMIM:300275 ; xref: UNIPROTKB/SWISSPROT:Q15738 ; xref: ENSEMBL:ENSG00000147383 ; xref: REACTOME:Q15738] EXACT Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects Neutral lipid storage disease Lipidosis with triglyceride storage disease OMIM:610717 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2137 Lipidosis with triglyceride storage disease OMIM:275630 ICD10:E75.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 EXACT Lipidosis with triglyceride storage disease Congenital ichthyosis - microcephalus - quadriplegia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 2138 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271 Harlequin ichthyosis HI Ichthyosis congenita, harlequin type Ichthyosis fetalis, Harlequin type Gene [OrphaNum:117620 ; Name:ATP-binding cassette, sub-family A (ABC1), member 12 ; Symbol:ABCA12 ; xref: GENATLAS:ABCA12 ; xref: HGNC:14637 ; xref: OMIM:607800 ; xref: UNIPROTKB/SWISSPROT:Q86UK0 ; xref: REACTOME:Q86UK0 ; xref: ENSEMBL:ENSG00000144452] Ichthyosis fetalis, Harlequin type Ichthyosis congenita, harlequin type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 ICD10:Q80.4 OMIM:242500 HI Orphanet ID- 2139 EXACT HI EXACT Ichthyosis fetalis, Harlequin type EXACT Ichthyosis congenita, harlequin type Ichthyosis - oral and digital anomalies Clayton Smith-Donnai syndrome Clayton Smith-Donnai syndrome OMIM:258840 Orphanet ID- 2140 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Clayton Smith-Donnai syndrome Superficial epidermolytic ichthyosis Ichthyosis bullosa of Siemens Ichthyosis exfoliativa SEI OMIM:146800 Ichthyosis bullosa of Siemens Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 Orphanet ID- 2141 SEI Ichthyosis exfoliativa prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:122907 ; Name:Keratin 2 (epidermal ichthyosis bullosa of Siemens) ; Symbol:KRT2 ; xref: GENATLAS:KRT2 ; xref: HGNC:6439 ; xref: OMIM:600194 ; xref: UNIPROTKB/SWISSPROT:P35908 ; xref: ENSEMBL:ENSG00000172867] ICD10:Q80.8 EXACT Ichthyosis bullosa of Siemens EXACT Ichthyosis exfoliativa EXACT SEI Ichthyosis follicularis - alopecia - photophobia IFAP syndrome Ichthyosis follicularis - atrichia - photophobia Orphanet ID- 2142 Ichthyosis follicularis - atrichia - photophobia prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 Gene [OrphaNum:189135 ; Name:Membrane-bound transcription factor peptidase, site 2 ; Symbol:MBTPS2 ; xref: GENATLAS:MBTPS2 ; xref: HGNC:15455 ; xref: ENSEMBL:ENSG00000012174 ; xref: OMIM:300294 ; xref: UNIPROTKB/SWISSPROT:O43462 ; xref: REACTOME:O43462] IFAP syndrome OMIM:308205 EXACT IFAP syndrome EXACT Ichthyosis follicularis - atrichia - photophobia Ichthyosis - hepatosplenomegaly - cerebellar degeneration Dykes-Markes-Harper syndrome Dykes-Markes-Harper syndrome OMIM:242520 Orphanet ID- 2143 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; ICD10:Q87.8 EXACT Dykes-Markes-Harper syndrome Ichthyosis microphthalmos Loffredo-Cennamo-Cecio syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2277 Orphanet ID- 2146 Loffredo-Cennamo-Cecio syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Loffredo-Cennamo-Cecio syndrome Ichthyosis - intellectual deficit - dwarfism - renal impairment Passwell-Goodman-Siprkowski syndrome Orphanet ID- 2147 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 Passwell-Goodman-Siprkowski syndrome OMIM:242530 EXACT Passwell-Goodman-Siprkowski syndrome Schwartz-Jampel syndrome Aberfeld syndrome Burton disease Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Myotonic chondrodystrophy Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Osteo-chondro-muscular dystrophy SJS SJS1 Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome Dysostosis enchondralis metaepiphysaria, Catel-Hempel type OMIM:245160 Schwartz-Jampel-Aberfeld syndrome SJS OMIM:255800 Burton disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Osteo-chondro-muscular dystrophy Orphanet ID- 215 SJS1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G71.1 Catel-Hempel syndrome Gene [OrphaNum:122547 ; Name:Heparan sulfate proteoglycan 2 ; Symbol:HSPG2 ; xref: GENATLAS:HSPG2 ; xref: HGNC:5273 ; xref: OMIM:142461 ; xref: UNIPROTKB/SWISSPROT:P98160 ; xref: ENSEMBL:ENSG00000142798 ; xref: REACTOME:P98160] Myotonic chondrodystrophy Burton skeletal dysplasia Burton syndrome Schwartz-Jampel syndrome type 1 Aberfeld syndrome EXACT Dysostosis enchondralis metaepiphysaria, Catel-Hempel type EXACT SJS EXACT Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies EXACT Myotonic chondrodystrophy EXACT Burton syndrome EXACT Osteo-chondro-muscular dystrophy EXACT Burton skeletal dysplasia EXACT Catel-Hempel syndrome EXACT Schwartz-Jampel-Aberfeld syndrome EXACT Aberfeld syndrome EXACT Burton disease EXACT Schwartz-Jampel syndrome type 1 EXACT SJS1 Dysmorphism - short stature - deafness - disorder of sex development Dysmorphism - short stature - deafness - pseudohermaphroditism Dysmorphism - short stature - deafness - pseudohermaphroditism prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 Orphanet ID- 2151 EXACT Dysmorphism - short stature - deafness - pseudohermaphroditism Primary basilar impression Bull-Nixon syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285 ICD10:Q75.8 OMIM:109500 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2152 Bull-Nixon syndrome EXACT Bull-Nixon syndrome Solitary median maxillary central incisor syndrome SMMCI Single upper central incisor Orphanet ID- 2153 OMIM:147250 ICD10:K00.2 Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] SMMCI Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2286 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Single upper central incisor EXACT Single upper central incisor EXACT SMMCI Fused mandibular incisors OMIM:147251 ICD10:K00.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287 Orphanet ID- 2154 Neuronal intranuclear inclusion disease prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Orphanet ID- 2156 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 OMIM:603472 ICD10:G31.0 Microvillous inclusion disease Congenital microvillous atrophy Orphanet ID- 2157 Gene [OrphaNum:171089 ; Name:Myosin VB ; Symbol:MYO5B ; xref: GENATLAS:MYO5B ; xref: HGNC:7603 ; xref: OMIM:606540 ; xref: UNIPROTKB/SWISSPROT:Q9ULV0 ; xref: REACTOME:Q9ULV0 ; xref: ENSEMBL:ENSG00000167306] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 Congenital microvillous atrophy OMIM:251850 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Congenital microvillous atrophy Congenital velopharyngeal incompetence Orphanet ID- 2158 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:J39.2 OMIM:167500 Congenital bowing of long bones OMIM:264050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2292 OMIM:211355 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 2160 Ehlers-Danlos syndrome type 11 EDS XI Familial joint instability syndrome Familial joint laxity Joint instability syndrome OMIM:147900 Joint instability syndrome prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 Familial joint laxity EDS XI Orphanet ID- 2162 Familial joint instability syndrome ICD10:Q79.6 EXACT Joint instability syndrome EXACT Familial joint laxity EXACT EDS XI EXACT Familial joint instability syndrome Isotretinoin syndrome Isotretinoin embryopathy Retinoic acid embryopathy Retinoids embryopathy Retinoids embryopathy ICD10:Q86.8 Isotretinoin embryopathy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Retinoic acid embryopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 Orphanet ID- 2166 EXACT Retinoids embryopathy EXACT Retinoic acid embryopathy EXACT Isotretinoin embryopathy Isotretinoin-like syndrome Kawashima syndrome Microtia-aortic arch syndrome Orphanet ID- 2167 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306 Kawashima syndrome Microtia-aortic arch syndrome OMIM:243440 EXACT Microtia-aortic arch syndrome EXACT Kawashima syndrome Pachyonychia congenita PC ICD10:Q84.5 Gene [OrphaNum:122901 ; Name:Keratin 16 (focal non-epidermolytic palmoplantar keratoderma) ; Symbol:KRT16 ; xref: GENATLAS:KRT16 ; xref: HGNC:6423 ; xref: OMIM:148067 ; xref: UNIPROTKB/SWISSPROT:P08779 ; xref: ENSEMBL:ENSG00000186832] Gene [OrphaNum:122917 ; Name:Keratin 6A ; Symbol:KRT6A ; xref: GENATLAS:KRT6A ; xref: HGNC:6443 ; xref: OMIM:148041 ; xref: UNIPROTKB/SWISSPROT:P02538 ; xref: ENSEMBL:ENSG00000205420] OMIM:167210 OMIM:167200 Orphanet ID- 2169 OMIM:260130 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 PC prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:122925 ; Name:Keratin 6B ; Symbol:KRT6B ; xref: ENSEMBL:ENSG00000185479 ; xref: GENATLAS:KRT6B ; xref: HGNC:6444 ; xref: OMIM:148042 ; xref: UNIPROTKB/SWISSPROT:P04259] Gene [OrphaNum:122904 ; Name:Keratin 17 ; Symbol:KRT17 ; xref: GENATLAS:KRT17 ; xref: HGNC:6427 ; xref: OMIM:148069 ; xref: UNIPROTKB/SWISSPROT:Q04695 ; xref: ENSEMBL:ENSG00000128422] EXACT PC Johanson-Blizzard syndrome Gene [OrphaNum:120373 ; Name:Ubiquitin protein ligase E3 component n-recognin 1 ; Symbol:UBR1 ; xref: REACTOME:Q8IWV7 ; xref: GENATLAS:UBR1 ; xref: HGNC:16808 ; xref: OMIM:605981 ; xref: UNIPROTKB/SWISSPROT:Q8IWV7 ; xref: ENSEMBL:ENSG00000159459] Orphanet ID- 2172 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; OMIM:243800 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 Neuroectodermal syndrome, Johnson type Alopecia - anosmia - deafness - hypogonadism Johnson-McMillin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 Johnson-McMillin syndrome Orphanet ID- 2173 OMIM:147770 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Alopecia - anosmia - deafness - hypogonadism ICD10:Q87.8 EXACT Alopecia - anosmia - deafness - hypogonadism EXACT Johnson-McMillin syndrome Juberg-Hayward syndrome Cleft lip/palate - abnormal thumbs - microcephaly Orocraniodigital syndrome ICD10:Q87.0 Orphanet ID- 2175 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 Cleft lip/palate - abnormal thumbs - microcephaly Orocraniodigital syndrome OMIM:216100 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Cleft lip/palate - abnormal thumbs - microcephaly EXACT Orocraniodigital syndrome Kabuki syndrome Kabuki make-up syndrome Niikawa-Kuroki syndrome Gene [OrphaNum:290568 ; Name:Lysine (K)-specific demethylase 6A ; Symbol:KDM6A ; xref: HGNC:12637 ; xref: OMIM:300128 ; xref: GENATLAS:KDM6A ; xref: UNIPROTKB/SWISSPROT:O15550 ; xref: ENSEMBL:ENSG00000147050] Niikawa-Kuroki syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 OMIM:147920 OMIM:300867 Orphanet ID- 2177 ICD10:Q87.0 Gene [OrphaNum:239011 ; Name:Myeloid/lymphoid or mixed-lineage leukemia 2 ; Symbol:MLL2 ; xref: GENATLAS:MLL2 ; xref: HGNC:7133 ; xref: OMIM:602113 ; xref: UNIPROTKB/SWISSPROT:O14686 ; xref: ENSEMBL:ENSG00000167548] Kabuki make-up syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Niikawa-Kuroki syndrome EXACT Kabuki make-up syndrome Sanjad-Sakati syndrome HRD syndrome Hypoparathyroidism - intellectual deficit - dysmorphism Hypoparathyroidism - short stature - intellectual deficit - seizures Middle-East syndrome Richadson-Kirk syndrome SSS OMIM:241410 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 Richadson-Kirk syndrome Hypoparathyroidism - short stature - intellectual deficit - seizures Middle-East syndrome ICD10:Q87.0 HRD syndrome Hypoparathyroidism - intellectual deficit - dysmorphism SSS Orphanet ID- 2178 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119938 ; Name:Tubulin folding cofactor E ; Symbol:TBCE ; xref: GENATLAS:TBCE ; xref: HGNC:11582 ; xref: OMIM:604934 ; xref: UNIPROTKB/SWISSPROT:Q15813 ; xref: ENSEMBL:ENSG00000116957 ; xref: REACTOME:Q15813] EXACT Middle-East syndrome EXACT SSS EXACT Hypoparathyroidism - short stature - intellectual deficit - seizures EXACT Richadson-Kirk syndrome EXACT HRD syndrome EXACT Hypoparathyroidism - intellectual deficit - dysmorphism Kaler-Garrity-Stern syndrome Osteopenia - intellectual deficit - sparse hair prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:259690 Osteopenia - intellectual deficit - sparse hair Orphanet ID- 2179 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 EXACT Osteopenia - intellectual deficit - sparse hair Townes-Brocks syndrome Gene [OrphaNum:118451 ; Name:Sal-like 1 (Drosophila) ; Symbol:SALL1 ; xref: GENATLAS:SALL1 ; xref: HGNC:10524 ; xref: OMIM:602218 ; xref: UNIPROTKB/SWISSPROT:Q9NSC2 ; xref: ENSEMBL:ENSG00000103449] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q87.8 Orphanet ID- 218 OMIM:107480 Epidermolysis bullosa simplex with anodontia/hypodontia Gamborg-Nielsen syndrome Kallin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 ICD10:Q81.0 Kallin syndrome Orphanet ID- 2180 ICD10:K00.0 Gamborg-Nielsen syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Gamborg-Nielsen syndrome EXACT Kallin syndrome Kalyanaraman syndrome Congenital arthrogryposis - myopathic seizures Orphanet ID- 2181 Congenital arthrogryposis - myopathic seizures Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2327 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Congenital arthrogryposis - myopathic seizures Kapur-Toriello syndrome Cleft lip/palate - facial, eye, heart and intestinal anomalies OMIM:244300 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Cleft lip/palate - facial, eye, heart and intestinal anomalies Orphanet ID- 2182 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 ICD10:Q87.8 EXACT Cleft lip/palate - facial, eye, heart and intestinal anomalies Karsch-Neugebauer syndrome Split hand/split foot - nystagmus prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2183 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329 OMIM:183800 Split hand/split foot - nystagmus EXACT Split hand/split foot - nystagmus KBG syndrome KBG-like syndrome Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia KBG-like syndrome Orphanet ID- 2184 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 Gene [OrphaNum:273977 ; Name:Ankyrin repeat domain 11 ; Symbol:ANKRD11 ; xref: ENSEMBL:ENSG00000167522 ; xref: OMIM:611192 ; xref: UNIPROTKB/SWISSPROT:Q6UB99 ; xref: HGNC:21316 ; xref: GENATLAS:ANKRD11] OMIM:148050 EXACT KBG-like syndrome EXACT Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia Kenny-Caffey syndrome Kenny syndrome Orphanet ID- 2185 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 Kenny syndrome EXACT Kenny syndrome Keratoderma - hypotrichosis - leukonychia Basaran-Yilmaz syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2336 ICD10:Q84 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Basaran-Yilmaz syndrome Orphanet ID- 2187 EXACT Basaran-Yilmaz syndrome Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type Diffuse palmoplantar keratoderma, Botnie type prevalence- 1-9 / 100 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:600231 Diffuse palmoplantar keratoderma, Botnie type ICD10:Q82.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 Orphanet ID- 2188 EXACT Diffuse palmoplantar keratoderma, Botnie type Hereditary punctate palmoplantar keratoderma Brauer-Buschke-Fischer syndrome PPK prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2189 ICD10:Q82.8 Brauer-Buschke-Fischer syndrome OMIM:175860 PPK OMIM:148600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338 EXACT Brauer-Buschke-Fischer syndrome EXACT PPK Waardenburg syndrome type 1 Gene [OrphaNum:124090 ; Name:Paired box 3 ; Symbol:PAX3 ; xref: GENATLAS:PAX3 ; xref: HGNC:8617 ; xref: OMIM:606597 ; xref: UNIPROTKB/SWISSPROT:P23760 ; xref: ENSEMBL:ENSG00000135903] ICD10:E70.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 219 OMIM:193500 Keratoderma hereditarium mutilans Vohwinkel syndrome Orphanet ID- 2190 Vohwinkel syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 OMIM:124500 ICD10:Q82.8 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:122129 ; Name:Gap junction protein, beta 2, 26kDa ; Symbol:GJB2 ; xref: GENATLAS:GJB2 ; xref: HGNC:4284 ; xref: OMIM:121011 ; xref: UNIPROTKB/SWISSPROT:P29033 ; xref: ENSEMBL:ENSG00000165474 ; xref: REACTOME:P29033] EXACT Vohwinkel syndrome Keratosis follicularis - dwarfism - cerebral atrophy OMIM:308830 Orphanet ID- 2191 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Keratosis follicularis spinulosa decalvans Orphanet ID- 2192 Gene [OrphaNum:189135 ; Name:Membrane-bound transcription factor peptidase, site 2 ; Symbol:MBTPS2 ; xref: GENATLAS:MBTPS2 ; xref: HGNC:15455 ; xref: ENSEMBL:ENSG00000012174 ; xref: OMIM:300294 ; xref: UNIPROTKB/SWISSPROT:O43462 ; xref: REACTOME:O43462] OMIM:308800 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive; Gene [OrphaNum:118472 ; Name:Spermidine/spermine N1-acetyltransferase 1 ; Symbol:SAT1 ; xref: GENATLAS:SAT1 ; xref: HGNC:10540 ; xref: OMIM:313020 ; xref: UNIPROTKB/SWISSPROT:P21673 ; xref: ENSEMBL:ENSG00000130066 ; xref: REACTOME:P21673] OMIM:612843 ICD10:Q82.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 Haim-Munk syndrome Keratosis palmoplantaris - periodontopathia - onychogryposis Gene [OrphaNum:120892 ; Name:Cathepsin C ; Symbol:CTSC ; xref: GENATLAS:CTSC ; xref: HGNC:2528 ; xref: OMIM:602365 ; xref: UNIPROTKB/SWISSPROT:P53634 ; xref: ENSEMBL:ENSG00000109861] Orphanet ID- 2194 OMIM:245010 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Keratosis palmoplantaris - periodontopathia - onychogryposis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 EXACT Keratosis palmoplantaris - periodontopathia - onychogryposis Kniest dysplasia prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:156550 ICD10:Q77.8 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] Orphanet ID- 2198 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 Lethal Kniest-like dysplasia Orphanet ID- 2199 OMIM:245190 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Krabbe disease Galactocerebrosidase deficiency Globoid cell leukodystrophy ICD10:E75.2 Orphanet ID- 22 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 Globoid cell leukodystrophy OMIM:245200 Galactocerebrosidase deficiency EXACT Galactocerebrosidase deficiency EXACT Globoid cell leukodystrophy Waardenburg syndrome type 2 Gene [OrphaNum:123243 ; Name:Microphthalmia-associated transcription factor ; Symbol:MITF ; xref: GENATLAS:MITF ; xref: HGNC:7105 ; xref: OMIM:156845 ; xref: UNIPROTKB/SWISSPROT:O75030 ; xref: ENSEMBL:ENSG00000187098] Gene [OrphaNum:120353 ; Name:Tyrosinase (oculocutaneous albinism IA) ; Symbol:TYR ; xref: ENSEMBL:ENSG00000077498 ; xref: GENATLAS:TYR ; xref: HGNC:12442 ; xref: OMIM:606933 ; xref: UNIPROTKB/SWISSPROT:P14679] Gene [OrphaNum:119757 ; Name:Snail homolog 2 (Drosophila) ; Symbol:SNAI2 ; xref: GENATLAS:SNAI2 ; xref: HGNC:11094 ; xref: OMIM:602150 ; xref: UNIPROTKB/SWISSPROT:O43623 ; xref: ENSEMBL:ENSG00000019549] OMIM:608890 OMIM:193510 OMIM:611584 OMIM:103470 OMIM:600193 OMIM:606662 Gene [OrphaNum:119786 ; Name:SRY (sex determining region Y)-box 10 ; Symbol:SOX10 ; xref: GENATLAS:SOX10 ; xref: HGNC:11190 ; xref: OMIM:602229 ; xref: UNIPROTKB/SWISSPROT:P56693 ; xref: ENSEMBL:ENSG00000100146] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 ICD10:E70.3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 220 Familial partial lipodystrophy, Dunnigan type Dunnigan syndrome FPLD2 Familial partial lipodystrophy type 2 FPLD2 Dunnigan syndrome ICD10:E88.1 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] Orphanet ID- 2200 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 Familial partial lipodystrophy type 2 OMIM:151660 EXACT Familial partial lipodystrophy type 2 EXACT Dunnigan syndrome EXACT FPLD2 Schilbach-Rott syndrome BRSS Blepharo-facio-skeletal syndrome Hypotelorism - cleft palate - hypospadias Blepharo-facio-skeletal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; BRSS OMIM:164220 Hypotelorism - cleft palate - hypospadias Orphanet ID- 2202 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 EXACT Blepharo-facio-skeletal syndrome EXACT Hypotelorism - cleft palate - hypospadias EXACT BRSS Lacrimo-auriculo-dento-digital syndrome LADD syndrome LARD syndrome Lacrimo-auriculo-radio-dental syndrome Levy-Hollister syndrome Levy-Hollister syndrome Lacrimo-auriculo-radio-dental syndrome OMIM:149730 Gene [OrphaNum:121794 ; Name:Fibroblast growth factor 10 ; Symbol:FGF10 ; xref: GENATLAS:FGF10 ; xref: HGNC:3666 ; xref: OMIM:602115 ; xref: UNIPROTKB/SWISSPROT:O15520 ; xref: REACTOME:O15520 ; xref: ENSEMBL:ENSG00000070193] LADD syndrome LARD syndrome Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] Orphanet ID- 2207 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Levy-Hollister syndrome EXACT LADD syndrome EXACT LARD syndrome EXACT Lacrimo-auriculo-radio-dental syndrome Waardenburg syndrome type 3 Klein-Waardenburg syndrome Waardenburg syndrome with limb anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 Gene [OrphaNum:124090 ; Name:Paired box 3 ; Symbol:PAX3 ; xref: GENATLAS:PAX3 ; xref: HGNC:8617 ; xref: OMIM:606597 ; xref: UNIPROTKB/SWISSPROT:P23760 ; xref: ENSEMBL:ENSG00000135903] Klein-Waardenburg syndrome Waardenburg syndrome with limb anomalies ICD10:E70.3 Orphanet ID- 221 OMIM:148820 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Waardenburg syndrome with limb anomalies EXACT Klein-Waardenburg syndrome Lethal Larsen-like syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 OMIM:245650 Orphanet ID- 2211 ICD10:Q87.2 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Laryngeal abductor paralysis - intellectual deficit Plott syndrome Plott syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375 OMIM:308850 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 2213 EXACT Plott syndrome Laurin-Sandrow syndrome Mirror hands and feets - nasal defects Sandrow syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 ICD10:Q30.8 Sandrow syndrome Orphanet ID- 2215 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q70.4 OMIM:135750 Gene [OrphaNum:123352 ; Name:mirror-image polydactyly 1 ; Symbol:MIPOL1 ; xref: GENATLAS:MIPOL1 ; xref: HGNC:21460 ; xref: OMIM:606850 ; xref: UNIPROTKB/SWISSPROT:Q8TD10 ; xref: ENSEMBL:ENSG00000151338] Mirror hands and feets - nasal defects EXACT Mirror hands and feets - nasal defects EXACT Sandrow syndrome Early-onset parkinsonism - intellectual deficit Laxova-Opitz syndrome Waisman syndrome OMIM:311510 Laxova-Opitz syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 Orphanet ID- 2216 Waisman syndrome EXACT Laxova-Opitz syndrome EXACT Waisman syndrome Leukoencephalopathy - palmoplantar keratoderma prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386 Orphanet ID- 2217 Leukonychia totalis Gene [OrphaNum:270352 ; Name:phospholipase C, delta 1 ; Symbol:PLCD1 ; xref: UNIPROTKB/SWISSPROT:P51178 ; xref: ENSEMBL:ENSG00000187091 ; xref: HGNC:9060 ; xref: OMIM:602142 ; xref: GENATLAS:PLCD1] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387 OMIM:151600 Orphanet ID- 2218 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Choreoacanthocytosis ChAc Chorea-acanthocytosis Levine-Critchley syndrome OMIM:200150 Gene [OrphaNum:120472 ; Name:Vacuolar protein sorting 13 homolog A (S. cerevisiae) ; Symbol:VPS13A ; xref: GENATLAS:VPS13A ; xref: HGNC:1908 ; xref: OMIM:605978 ; xref: UNIPROTKB/SWISSPROT:Q96RL7 ; xref: ENSEMBL:ENSG00000197969] Chorea-acanthocytosis ChAc Levine-Critchley syndrome Orphanet ID- 2219 prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 EXACT Levine-Critchley syndrome EXACT ChAc EXACT Chorea-acanthocytosis Lichstenstein syndrome Orphanet ID- 2221 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2390 OMIM:246550 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Encephalocraniocutaneous lipomatosis Haberland syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 OMIM:613001 Orphanet ID- 2225 Haberland syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; EXACT Haberland syndrome Nasopalpebral lipoma - coloboma - telecanthus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399 OMIM:167730 ICD10:Q10.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 2226 Thickened earlobes - conductive deafness Escher-Hirt syndrome Orphanet ID- 2232 Escher-Hirt syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405 OMIM:128980 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Escher-Hirt syndrome LOGIC syndrome Laryngeal and ocular granulation in Indian children Laryngo-onycho-cutaneous syndrome Orphanet ID- 2233 Laryngo-onycho-cutaneous syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 Gene [OrphaNum:122964 ; Name:Laminin, alpha 3 ; Symbol:LAMA3 ; xref: GENATLAS:LAMA3 ; xref: HGNC:6483 ; xref: OMIM:600805 ; xref: UNIPROTKB/SWISSPROT:Q16787 ; xref: REACTOME:Q16787 ; xref: ENSEMBL:ENSG00000053747] OMIM:245660 Laryngeal and ocular granulation in Indian children prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Laryngo-onycho-cutaneous syndrome EXACT Laryngeal and ocular granulation in Indian children Lowe-Kohn-Cohen syndrome Deafness - nephritis - ano-rectal malformation OMIM:107100 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Deafness - nephritis - ano-rectal malformation Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 Orphanet ID- 2234 EXACT Deafness - nephritis - ano-rectal malformation Lowry-MacLean syndrome OMIM:600252 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 Orphanet ID- 2235 Cystic fibrosis - gastritis - megaloblastic anemia Lubani-Al Saleh-Teebi syndrome Lubani-Al Saleh-Teebi syndrome Orphanet ID- 2236 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:219721 EXACT Lubani-Al Saleh-Teebi syndrome Hypergonadotropic hypogonadism - cataract syndrome Lubinsky syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Lubinsky syndrome OMIM:240950 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410 Orphanet ID- 2237 EXACT Lubinsky syndrome Dislocation of the hip - dysmorphism Collins-Pope syndrome Orphanet ID- 2239 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412 Collins-Pope syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601450 EXACT Collins-Pope syndrome Macrocephaly - spastic paraplegia - dysmorphism Fryns macrocephaly Orphanet ID- 2249 Fryns macrocephaly prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:600302 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 EXACT Fryns macrocephaly Zellweger syndrome Cerebrohepatorenal syndrome OMIM:214100 Gene [OrphaNum:124196 ; Name:Peroxisome biogenesis factor 13 ; Symbol:PEX13 ; xref: GENATLAS:PEX13 ; xref: HGNC:8855 ; xref: OMIM:601789 ; xref: UNIPROTKB/SWISSPROT:Q92968 ; xref: ENSEMBL:ENSG00000162928] ICD10:Q87.8 Gene [OrphaNum:124202 ; Name:Peroxisomal biogenesis factor 19 ; Symbol:PEX19 ; xref: GENATLAS:PEX19 ; xref: HGNC:9713 ; xref: OMIM:600279 ; xref: UNIPROTKB/SWISSPROT:P40855 ; xref: ENSEMBL:ENSG00000162735 ; xref: REACTOME:P40855] Gene [OrphaNum:124191 ; Name:Peroxisome biogenesis factor 10 ; Symbol:PEX10 ; xref: GENATLAS:PEX10 ; xref: HGNC:8851 ; xref: OMIM:602859 ; xref: UNIPROTKB/SWISSPROT:O60683 ; xref: ENSEMBL:ENSG00000157911] Gene [OrphaNum:124198 ; Name:Peroxisomal biogenesis factor 14 ; Symbol:PEX14 ; xref: GENATLAS:PEX14 ; xref: HGNC:8856 ; xref: OMIM:601791 ; xref: UNIPROTKB/SWISSPROT:O75381 ; xref: ENSEMBL:ENSG00000142655] Gene [OrphaNum:124194 ; Name:Peroxisomal biogenesis factor 12 ; Symbol:PEX12 ; xref: ENSEMBL:ENSG00000108733 ; xref: GENATLAS:PEX12 ; xref: HGNC:8854 ; xref: OMIM:601758 ; xref: UNIPROTKB/SWISSPROT:O00623] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Gene [OrphaNum:124209 ; Name:Peroxisomal biogenesis factor 3 ; Symbol:PEX3 ; xref: GENATLAS:PEX3 ; xref: HGNC:8858 ; xref: OMIM:603164 ; xref: UNIPROTKB/SWISSPROT:P56589 ; xref: REACTOME:P56589 ; xref: ENSEMBL:ENSG00000034693] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:124215 ; Name:Peroxisomal biogenesis factor 6 ; Symbol:PEX6 ; xref: GENATLAS:PEX6 ; xref: HGNC:8859 ; xref: OMIM:601498 ; xref: UNIPROTKB/SWISSPROT:Q13608 ; xref: ENSEMBL:ENSG00000124587] OMIM:214110 Gene [OrphaNum:122513 ; Name:Hydroxysteroid (17-beta) dehydrogenase 4 ; Symbol:HSD17B4 ; xref: GENATLAS:HSD17B4 ; xref: HGNC:5213 ; xref: OMIM:601860 ; xref: UNIPROTKB/SWISSPROT:P51659 ; xref: ENSEMBL:ENSG00000133835 ; xref: REACTOME:P51659] Orphanet ID- 225 Gene [OrphaNum:124189 ; Name:Peroxisome biogenesis factor 1 ; Symbol:PEX1 ; xref: GENATLAS:PEX1 ; xref: HGNC:8850 ; xref: OMIM:602136 ; xref: UNIPROTKB/SWISSPROT:O43933 ; xref: ENSEMBL:ENSG00000127980] OMIM:170995 Cerebrohepatorenal syndrome OMIM:170993 Gene [OrphaNum:124200 ; Name:Peroxisomal biogenesis factor 16 ; Symbol:PEX16 ; xref: GENATLAS:PEX16 ; xref: HGNC:8857 ; xref: OMIM:603360 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y5 ; xref: ENSEMBL:ENSG00000121680] Gene [OrphaNum:124206 ; Name:Peroxisome biogenesis factor 26 ; Symbol:PEX26 ; xref: GENATLAS:PEX26 ; xref: HGNC:22965 ; xref: OMIM:608666 ; xref: UNIPROTKB/SWISSPROT:Q7Z412 ; xref: ENSEMBL:ENSG00000215193] Gene [OrphaNum:124211 ; Name:Peroxisomal biogenesis factor 5 ; Symbol:PEX5 ; xref: GENATLAS:PEX5 ; xref: HGNC:9719 ; xref: OMIM:600414 ; xref: UNIPROTKB/SWISSPROT:P50542 ; xref: ENSEMBL:ENSG00000139197] Gene [OrphaNum:118174 ; Name:Peroxisomal biogenesis factor 2 ; Symbol:PEX2 ; xref: GENATLAS:PXMP3 ; xref: HGNC:9717 ; xref: OMIM:170993 ; xref: UNIPROTKB/SWISSPROT:P28328 ; xref: ENSEMBL:ENSG00000164751] EXACT Cerebrohepatorenal syndrome Macrosomia - microphthalmia - cleft palate Teebi-Al saleh-Hassoon syndrome Teebi-Al saleh-Hassoon syndrome Orphanet ID- 2251 OMIM:248110 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Teebi-Al saleh-Hassoon syndrome Epstein syndrome Alport syndrome with macrothrombocytopenia OMIM:153650 Orphanet ID- 2253 Alport syndrome with macrothrombocytopenia prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1019 Gene [OrphaNum:123628 ; Name:Myosin, heavy chain 9, non-muscle ; Symbol:MYH9 ; xref: GENATLAS:MYH9 ; xref: HGNC:7579 ; xref: OMIM:160775 ; xref: UNIPROTKB/SWISSPROT:P35579 ; xref: REACTOME:P35579 ; xref: ENSEMBL:ENSG00000100345] ICD10:D69.4 EXACT Alport syndrome with macrothrombocytopenia Hypomelanotic and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency Westerhof-Beemer-Cormane syndrome Orphanet ID- 2255 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 OMIM:154000 Westerhof-Beemer-Cormane syndrome EXACT Westerhof-Beemer-Cormane syndrome Enchondromatosis Ollier disease OMIM:166000 Gene [OrphaNum:118140 ; Name:Parathyroid hormone 1 receptor ; Symbol:PTH1R ; xref: OMIM:168468 ; xref: UNIPROTKB/SWISSPROT:Q03431 ; xref: HGNC:9608 ; xref: GENATLAS:PTH1R ; xref: ENSEMBL:ENSG00000160801 ; xref: IUPHAR:331 ; xref: REACTOME:Q03431] ICD10:Q78.4 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 Ollier disease Orphanet ID- 2257 EXACT Ollier disease Split hand - urinary anomalies - spina bifida Czeizel-Losonci syndrome OMIM:183802 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Czeizel-Losonci syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437 Orphanet ID- 2258 EXACT Czeizel-Losonci syndrome Hand-foot-genital syndrome HFGS Hand-foot-uterus syndrome ICD10:Q51.2 Gene [OrphaNum:122462 ; Name:Homeobox A13 ; Symbol:HOXA13 ; xref: GENATLAS:HOXA13 ; xref: HGNC:5102 ; xref: OMIM:142959 ; xref: UNIPROTKB/SWISSPROT:P31271 ; xref: ENSEMBL:ENSG00000106031] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 Orphanet ID- 2259 HFGS Hand-foot-uterus syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:140000 EXACT HFGS EXACT Hand-foot-uterus syndrome Patterson-Stevenson-Fontaine syndrome Patterson-Stevenson syndrome Split foot deformity - mandibulofacial dysostosis Split foot deformity - mandibulofacial dysostosis Orphanet ID- 2260 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:183700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 Patterson-Stevenson syndrome EXACT Patterson-Stevenson syndrome EXACT Split foot deformity - mandibulofacial dysostosis Split hand-split foot malformation Ectrodactyly Lobster-claw deformity SHFM Split hand foot malformation OMIM:313350 OMIM:605289 OMIM:183600 Gene [OrphaNum:121770 ; Name:F-box and WD repeat domain containing 4 ; Symbol:FBXW4 ; xref: GENATLAS:FBXW4 ; xref: HGNC:10847 ; xref: OMIM:608071 ; xref: UNIPROTKB/SWISSPROT:P57775 ; xref: REACTOME:P57775 ; xref: ENSEMBL:ENSG00000107829] Gene [OrphaNum:183933 ; Name:Wingless-type MMTV integration site family, member 10B ; Symbol:WNT10B ; xref: ENSEMBL:ENSG00000169884 ; xref: REACTOME:O00744 ; xref: GENATLAS:WNT10B ; xref: HGNC:12775 ; xref: OMIM:601906 ; xref: UNIPROTKB/SWISSPROT:O00744] OMIM:606708 Gene [OrphaNum:138681 ; Name:Split hand/foot malformation (ectrodactyly) type 1 ; Symbol:SHFM1 ; xref: GENATLAS:SHFM1 ; xref: HGNC:10845 ; xref: OMIM:601285 ; xref: UNIPROTKB/SWISSPROT:P60896 ; xref: ENSEMBL:ENSG00000127922] Split hand foot malformation prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Lobster-claw deformity ICD10:Q72.7 Orphanet ID- 2261 OMIM:246560 ICD10:Q71.6 OMIM:225300 SHFM Ectrodactyly Gene [OrphaNum:120207 ; Name:Tumor Protein p63 ; Symbol:TP63 ; xref: OMIM:603273 ; xref: UNIPROTKB/SWISSPROT:Q9H3D4 ; xref: GENATLAS:TP63 ; xref: HGNC:15979 ; xref: ENSEMBL:ENSG00000073282] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 EXACT SHFM EXACT Ectrodactyly EXACT Lobster-claw deformity EXACT Split hand foot malformation Intracranial arteriovenous malformation AVM (Arteriovenous Malformation) Intracranial AVM (Arteriovenous Malformation) Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformation, Cerebral Arteriovenous Malformation, Cerebral[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformation, Intracranial Arteriovenous Malformation, Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformations, Cerebral Arteriovenous Malformations, Cerebral[accessedResource: MSH:D002538][accessDate: 05-04-2011] Arteriovenous Malformations, Intracranial Arteriovenous Malformations, Intracranial[accessedResource: MSH:D002538][accessDate: 05-04-2011] CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS[accessedResource: MSH:D002538][accessDate: 05-04-2011] Cerebral Arteriovenous Malformations Cerebral Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011] Congenital Intracranial Arteriovenous Malformations Congenital Intracranial Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011] Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect. Congenital vascular anomalies in the brain characterized by direct communication between an artery and a vein without passing through the CAPILLARIES. The locations and size of the shunts determine the symptoms including HEADACHES; SEIZURES; STROKE; INTRACRANIAL HEMORRHAGES; mass effect; and vascular steal effect.[accessedResource: MSH:D002538][accessDate: 05-04-2011] INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CONGEN[accessedResource: MSH:D002538][accessDate: 05-04-2011] INTRACRANIAL AVM INTRACRANIAL AVM[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformation, Ruptured Intracranial Arteriovenous Malformation, Ruptured[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformation[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformations Intracranial Arteriovenous Malformations, Congenital Intracranial Arteriovenous Malformations, Congenital[accessedResource: MSH:D002538][accessDate: 05-04-2011] Intracranial Arteriovenous Malformations[accessedResource: MSH:D002538][accessDate: 05-04-2011] MSH:D002538 Malformation, Cerebral Arteriovenous Malformation, Cerebral Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] Malformation, Intracranial Arteriovenous Malformation, Intracranial Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] Malformations, Cerebral Arteriovenous Malformations, Cerebral Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] Malformations, Intracranial Arteriovenous Malformations, Intracranial Arteriovenous[accessedResource: MSH:D002538][accessDate: 05-04-2011] OMIM:108010 Ruptured Intracranial Arteriovenous Malformation Ruptured Intracranial Arteriovenous Malformation[accessedResource: MSH:D002538][accessDate: 05-04-2011] Tomasz Adamusiak cerebral arteriovenous malformation Orphanet ID- 2264 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2449 ICD10:Q28.2 Mucocutaneous venous malformations Cutaneous and mucosal venous malformation VMCM Gene [OrphaNum:120020 ; Name:TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal) ; Symbol:TEK ; xref: GENATLAS:TEK ; xref: HGNC:11724 ; xref: OMIM:600221 ; xref: UNIPROTKB/SWISSPROT:Q02763 ; xref: ENSEMBL:ENSG00000120156 ; xref: REACTOME:Q02763] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 2266 OMIM:600195 VMCM ICD10:Q27.8 Cutaneous and mucosal venous malformation EXACT VMCM EXACT Cutaneous and mucosal venous malformation Familial intestinal malrotation - facial anomalies Stalker-Chitayat syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2454 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2268 Stalker-Chitayat syndrome OMIM:193250 EXACT Stalker-Chitayat syndrome Lumbar malsegmentation - short stature Leipala-Kaitila syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2455 Orphanet ID- 2269 Leipala-Kaitila syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Leipala-Kaitila syndrome Mandibuloacral dysplasia MAD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 Orphanet ID- 2271 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; MAD ICD10:Q87.5 EXACT MAD Marden-Walker syndrome OMIM:248700 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 Orphanet ID- 2273 Shprintzen-Goldberg syndrome Marfanoid craniosynostosis syndrome SGS SGS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] Marfanoid craniosynostosis syndrome Orphanet ID- 2275 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; OMIM:182212 EXACT SGS EXACT Marfanoid craniosynostosis syndrome Marfanoid habitus - intellectual deficit, autosomal recessive prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2276 OMIM:248770 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463 Marinesco-Sjögren syndrome Gene [OrphaNum:118718 ; Name:SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) ; Symbol:SIL1 ; xref: GENATLAS:SIL1 ; xref: HGNC:24624 ; xref: OMIM:608005 ; xref: UNIPROTKB/SWISSPROT:Q9H173 ; xref: ENSEMBL:ENSG00000120725] ICD10:G11.1 Orphanet ID- 2277 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 OMIM:248800 Marfanoid syndrome, De Silva type Orphanet ID- 2278 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464 OMIM:223330 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Marshall-Smith syndrome Accelerated skeletal maturation - peculiar facies - failure to thrive Accelerated skeletal maturation - peculiar facies - failure to thrive Gene [OrphaNum:239888 ; Name:Nuclear factor I/X (CCAAT-binding transcription factor) ; Symbol:NFIX ; xref: GENATLAS:NFIX ; xref: HGNC:7788 ; xref: OMIM:164005 ; xref: UNIPROTKB/SWISSPROT:Q14938 ; xref: ENSEMBL:ENSG00000008441 ; xref: REACTOME:Q14938] Orphanet ID- 2279 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; OMIM:602535 ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 EXACT Accelerated skeletal maturation - peculiar facies - failure to thrive Matthew-Wood syndrome Anophthalmia - pulmonary hypoplasia MCOPS9 Syndromic microphthalmia type 9 Orphanet ID- 2283 OMIM:601186 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 ICD10:Q11.2 Syndromic microphthalmia type 9 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; MCOPS9 Gene [OrphaNum:138526 ; Name:Stimulated by retinoic acid gene 6 homolog (mouse) ; Symbol:STRA6 ; xref: GENATLAS:STRA6 ; xref: HGNC:30650 ; xref: OMIM:610745 ; xref: UNIPROTKB/SWISSPROT:Q9BX79 ; xref: ENSEMBL:ENSG00000137868] Anophthalmia - pulmonary hypoplasia EXACT Anophthalmia - pulmonary hypoplasia EXACT MCOPS9 EXACT Syndromic microphthalmia type 9 McDonough syndrome OMIM:248950 Orphanet ID- 2284 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 McKusick-Kaufman syndrome Hydrometrocolpos - postaxial polydactyly Kaufman-Mckusick syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473 Orphanet ID- 2286 Kaufman-Mckusick syndrome Gene [OrphaNum:123245 ; Name:McKusick-Kaufman syndrome (Gen) ; Symbol:MKKS ; xref: GENATLAS:MKKS ; xref: HGNC:7108 ; xref: OMIM:604896 ; xref: UNIPROTKB/SWISSPROT:Q9NPJ1 ; xref: ENSEMBL:ENSG00000125863] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:236700 Hydrometrocolpos - postaxial polydactyly EXACT Kaufman-Mckusick syndrome EXACT Hydrometrocolpos - postaxial polydactyly White forelock with malformations OMIM:277740 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2288 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 Medeira-Dennis-Donnai syndrome Dysraphism - cleft lip/palate - limb reduction defects Orphanet ID- 2289 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Dysraphism - cleft lip/palate - limb reduction defects Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476 EXACT Dysraphism - cleft lip/palate - limb reduction defects Megalocornea-intellectual deficit syndrome OMIM:249310 ICD10:Q87.8 Orphanet ID- 2291 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 Melhem-Fahl syndrome Orphanet ID- 2295 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482 Osteodysplasty, Melnick-Needles type Melnick-Needles syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; Orphanet ID- 2297 Melnick-Needles syndrome OMIM:309350 Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] ICD10:Q77.8 EXACT Melnick-Needles syndrome Melorheostosis Orphanet ID- 2298 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q77.4 OMIM:155950 WAGR syndrome Deletion 11p13 Monosomy 11p13 Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit OMIM:194072 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 OMIM:612469 Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Deletion 11p13 Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit Gene [OrphaNum:119027 ; Name:Brain-derived neurotrophic factor ; Symbol:BDNF ; xref: GENATLAS:BDNF ; xref: HGNC:1033 ; xref: OMIM:113505 ; xref: UNIPROTKB/SWISSPROT:P23560 ; xref: ENSEMBL:ENSG00000176697] ICD10:Q87.8 Orphanet ID- 230 Monosomy 11p13 Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] EXACT Deletion 11p13 EXACT Monosomy 11p13 EXACT Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit Lower limb deficiency - hypospadias Fried-Goldberg-Mundel syndrome Fried-Goldberg-Mundel syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487 Orphanet ID- 2300 EXACT Fried-Goldberg-Mundel syndrome Upper limb defect - eye and ear abnormalities Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 OMIM:274205 Orphanet ID- 2302 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Mullerian duct anomalies - limb anomalies OMIM:146160 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491 Orphanet ID- 2304 Limb transversal defect - cardiac anomaly Hecht-Scott syndrome Orphanet ID- 2305 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 OMIM:246570 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hecht-Scott syndrome EXACT Hecht-Scott syndrome 8q13 microdeletion syndrome Mesomelia - synostoses Monosomy 8q13 Verloes-David syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 OMIM:600383 Gene [OrphaNum:242331 ; Name:Sulfatase 1 ; Symbol:SULF1 ; xref: GENATLAS:SULF1 ; xref: HGNC:20391 ; xref: UNIPROTKB/SWISSPROT:Q8IWU6 ; xref: OMIM:610012 ; xref: ENSEMBL:ENSG00000137573] ICD10:Q93.5 Gene [OrphaNum:242335 ; Name:Solute carrier organic anion transporter family, member 5A1 ; Symbol:SLCO5A1 ; xref: ENSEMBL:ENSG00000137571 ; xref: HGNC:19046 ; xref: OMIM:613543 ; xref: UNIPROTKB/SWISSPROT:Q9H2Y9 ; xref: GENATLAS:SLCO5A1] Verloes-David syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Mesomelia - synostoses Orphanet ID- 2308 Monosomy 8q13 EXACT Monosomy 8q13 EXACT Verloes-David syndrome EXACT Mesomelia - synostoses Upper limb mesomelic dysplasia Fryns-Hofkens-Fabry syndrome Ulna hypoplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497 OMIM:191440 Orphanet ID- 2309 ICD10:Q78.8 Fryns-Hofkens-Fabry syndrome Ulna hypoplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Fryns-Hofkens-Fabry syndrome EXACT Ulna hypoplasia Syndactyly type 8 Fusion of metacarpals 4 and 5 Fusion of metacarpals 4 and 5 Orphanet ID- 2310 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:309630 ICD10:Q70.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 EXACT Fusion of metacarpals 4 and 5 Metachondromatosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:118143 ; Name:Protein tyrosine phosphatase, non-receptor type 11 ; Symbol:PTPN11 ; xref: GENATLAS:PTPN11 ; xref: HGNC:9644 ; xref: OMIM:176876 ; xref: UNIPROTKB/SWISSPROT:Q06124 ; xref: ENSEMBL:ENSG00000179295 ; xref: REACTOME:Q06124] OMIM:156250 ICD10:Q78.8 Orphanet ID- 2311 Acrogeria Acrogeria, Gottron type Acrometageria Gottron syndrome Orphanet ID- 2312 Acrogeria, Gottron type OMIM:201200 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gottron syndrome Acrometageria Gene [OrphaNum:120713 ; Name:Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ; Symbol:COL3A1 ; xref: GENATLAS:COL3A1 ; xref: HGNC:2201 ; xref: OMIM:120180 ; xref: UNIPROTKB/SWISSPROT:P02461 ; xref: ENSEMBL:ENSG00000168542 ; xref: REACTOME:P02461] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 EXACT Acrometageria EXACT Gottron syndrome EXACT Acrogeria, Gottron type Metaphyseal chondrodysplasia, Spahr type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q78.5 OMIM:250400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 Orphanet ID- 2313 Metaphyseal dysostosis - intellectual deficit - conductive deafness ICD10:Q78.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2314 OMIM:250420 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 OMIM:156510 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2316 Multiple benign circumferential skin creases on limbs CCSF Congenital circumferential skin folds Kunze-Riehm syndrome MTBS Michelin tire baby syndrome Kunze-Riehm syndrome Orphanet ID- 2317 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:156610 CCSF MTBS Congenital circumferential skin folds ICD10:Q82.8 Michelin tire baby syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 EXACT MTBS EXACT Michelin tire baby syndrome EXACT CCSF EXACT Kunze-Riehm syndrome EXACT Congenital circumferential skin folds Micrencephaly - corpus callosum agenesis - abnormal genitalia Proud-Levine-Carpenter syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Proud-Levine-Carpenter syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 Orphanet ID- 2320 OMIM:300004 Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848] EXACT Proud-Levine-Carpenter syndrome Micro syndrome WARBM1 Warburg Micro syndrome Gene [OrphaNum:268016 ; Name:RAB18, member RAS oncogene family ; Symbol:RAB18 ; xref: GENATLAS:RAB18 ; xref: ENSEMBL:ENSG00000099246 ; xref: HGNC:14244 ; xref: OMIM:602207 ; xref: UNIPROTKB/SWISSPROT:Q9NP72] Gene [OrphaNum:118200 ; Name:RAB3 GTPase activating protein subunit 2 (non-catalytic) ; Symbol:RAB3GAP2 ; xref: GENATLAS:RAB3GAP2 ; xref: HGNC:17168 ; xref: OMIM:609275 ; xref: UNIPROTKB/SWISSPROT:Q9H2M9 ; xref: ENSEMBL:ENSG00000118873] OMIM:614225 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 Gene [OrphaNum:118194 ; Name:RAB3 GTPase activating protein subunit 1 (catalytic) ; Symbol:RAB3GAP1 ; xref: GENATLAS:RAB3GAP1 ; xref: HGNC:17063 ; xref: OMIM:602536 ; xref: UNIPROTKB/SWISSPROT:Q15042 ; xref: ENSEMBL:ENSG00000115839] Orphanet ID- 2322 OMIM:614222 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; WARBM1 Warburg Micro syndrome OMIM:600118 ICD10:Q04.3 EXACT Warburg Micro syndrome EXACT WARBM1 Microbrachycephaly - ptosis - cleft lip RichieriCosta-GuionAlmeida-Ramos syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 2323 OMIM:268850 RichieriCosta-GuionAlmeida-Ramos syndrome EXACT RichieriCosta-GuionAlmeida-Ramos syndrome Microcephaly - albinism - digital anomalies Castro Gago-Pombo-Novo syndrome OMIM:203340 Castro Gago-Pombo-Novo syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2324 EXACT Castro Gago-Pombo-Novo syndrome Autosomal dominant microcephaly OMIM:156580 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q02 Orphanet ID- 2325 Microcephaly - cardiomyopathy Winship-Viljoen-Leary syndrome Orphanet ID- 2326 OMIM:251220 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Winship-Viljoen-Leary syndrome EXACT Winship-Viljoen-Leary syndrome Microcephaly - cardiac defect - lung malsegmentation Ellis-Yale-Winter syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516 OMIM:601355 Ellis-Yale-Winter syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 2327 EXACT Ellis-Yale-Winter syndrome Autosomal recessive chorioretinopathy - microcephaly Pseudotoxoplasmosis syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 Pseudotoxoplasmosis syndrome Orphanet ID- 2329 Gene [OrphaNum:304005 ; Name:Tubulin, gamma complex associated protein 6 ; Symbol:TUBGCP6 ; xref: HGNC:18127 ; xref: OMIM:610053 ; xref: GENATLAS:TUBGCP6 ; xref: UNIPROTKB/SWISSPROT:Q96RT7] OMIM:251270 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Pseudotoxoplasmosis syndrome Peutz-Jeghers syndrome Hamartomatous intestinal polyposis Intestinal polyposis - cutaneous pigmentation syndrome PJS PJS Intestinal polyposis - cutaneous pigmentation syndrome Orphanet ID- 233 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 OMIM:175200 ICD10:Q85.8 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:119884 ; Name:Serine/threonine kinase 11 ; Symbol:STK11 ; xref: GENATLAS:STK11 ; xref: HGNC:11389 ; xref: OMIM:602216 ; xref: UNIPROTKB/SWISSPROT:Q15831 ; xref: ENSEMBL:ENSG00000118046 ; xref: REACTOME:Q15831] Hamartomatous intestinal polyposis EXACT PJS EXACT Intestinal polyposis - cutaneous pigmentation syndrome EXACT Hamartomatous intestinal polyposis Microcephaly - cleft palate Halal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 Orphanet ID- 2331 Halal syndrome EXACT Halal syndrome Microcephaly - cervical spine fusion anomalies Orphanet ID- 2332 ICD10:Q02 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 OMIM:251250 Pontocerebellar hypoplasia type 2 OMIM:277470 Gene [OrphaNum:169410 ; Name:tRNA splicing endonuclease 2 homolog (S. cerevisiae) ; Symbol:TSEN2 ; xref: GENATLAS:TSEN2 ; xref: HGNC:28422 ; xref: OMIM:608753 ; xref: UNIPROTKB/SWISSPROT:Q8NCE0 ; xref: ENSEMBL:ENSG00000154743] OMIM:612389 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 ICD10:Q04.3 Gene [OrphaNum:169405 ; Name:tRNA splicing endonuclease 34 homolog (S. cerevisiae) ; Symbol:TSEN34 ; xref: ENSEMBL:ENSG00000170892 ; xref: GENATLAS:TSEN34 ; xref: HGNC:15506 ; xref: OMIM:608754 ; xref: UNIPROTKB/SWISSPROT:Q9BSV6] OMIM:613811 Gene [OrphaNum:168268 ; Name:tRNA splicing endonuclease 54 homolog (S. cerevisiae) ; Symbol:TSEN54 ; xref: GENATLAS:TSEN54 ; xref: HGNC:27561 ; xref: OMIM:608755 ; xref: UNIPROTKB/SWISSPROT:Q7Z6J9 ; xref: ENSEMBL:ENSG00000182173] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:251270 ; Name:Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase ; Symbol:SEPSECS ; xref: GENATLAS:SEPSECS ; xref: HGNC:30605 ; xref: OMIM:613009 ; xref: UNIPROTKB/SWISSPROT:Q9HD40 ; xref: ENSEMBL:ENSG00000109618] Orphanet ID- 2334 OMIM:612390 Microcephaly - lymphedema - chorioretinopathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 Gene [OrphaNum:292401 ; Name:Kinesin family member 11 ; Symbol:KIF11 ; xref: HGNC:6388 ; xref: OMIM:148760 ; xref: GENATLAS:KIF11 ; xref: UNIPROTKB/SWISSPROT:P52732] OMIM:152950 Orphanet ID- 2336 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Microcephaly-microcornea syndrome, Seemanova type Seemanova-Lesny syndrome Orphanet ID- 2338 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Seemanova-Lesny syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 ICD10:Q02 EXACT Seemanova-Lesny syndrome Pfeiffer syndrome ACS 5 Acrocephalosyndactyly type 5 ACS 5 ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:101600 Orphanet ID- 234 Acrocephalosyndactyly type 5 EXACT ACS 5 EXACT Acrocephalosyndactyly type 5 Microcephaly - deafness - intellectual deficit Kawashima-Tsuji syndrome Orphanet ID- 2342 OMIM:156620 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Kawashima-Tsuji syndrome EXACT Kawashima-Tsuji syndrome Microcornea - corectopia - macular hypoplasia Orphanet ID- 2343 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2535 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Microcornea - glaucoma - absent frontal sinuses Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536 Orphanet ID- 2344 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:156700 Saethre-Chotzen syndrome ACS 3 Acrocephalosyndactyly type 3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 ICD10:Q87.0 Orphanet ID- 235 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:120345 ; Name:Twist homolog 1 (Drosophila) ; Symbol:TWIST1 ; xref: ENSEMBL:ENSG00000122691 ; xref: GENATLAS:TWIST1 ; xref: HGNC:12428 ; xref: OMIM:601622 ; xref: UNIPROTKB/SWISSPROT:Q15672] OMIM:101400 Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Acrocephalosyndactyly type 3 ACS 3 Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] EXACT ACS 3 EXACT Acrocephalosyndactyly type 3 Microphthalmia - cataract Congenital cataract - microphthalmia Gene [OrphaNum:159362 ; Name:Visual system homeobox 2 ; Symbol:VSX2 ; xref: GENATLAS:VSX2 ; xref: HGNC:1975 ; xref: OMIM:142993 ; xref: UNIPROTKB/SWISSPROT:P58304 ; xref: ENSEMBL:ENSG00000119614] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:302300 OMIM:212550 Orphanet ID- 2350 Congenital cataract - microphthalmia OMIM:156850 Gene [OrphaNum:159959 ; Name:Transmembrane protein 114 ; Symbol:TMEM114 ; xref: GENATLAS:TMEM114 ; xref: HGNC:33227 ; xref: OMIM:611579 ; xref: UNIPROTKB/SWISSPROT:B3SHH9 ; xref: ENSEMBL:ENSG00000232258] OMIM:610426 Gene [OrphaNum:120839 ; Name:Crystallin, beta A4 ; Symbol:CRYBA4 ; xref: GENATLAS:CRYBA4 ; xref: HGNC:2396 ; xref: OMIM:123631 ; xref: UNIPROTKB/SWISSPROT:P53673 ; xref: ENSEMBL:ENSG00000196431] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2543 Gene [OrphaNum:118728 ; Name:SIX homeobox 6 ; Symbol:SIX6 ; xref: GENATLAS:SIX6 ; xref: HGNC:10892 ; xref: OMIM:606326 ; xref: UNIPROTKB/SWISSPROT:O95475 ; xref: ENSEMBL:ENSG00000184302] EXACT Congenital cataract - microphthalmia Oculoauriculovertebral spectrum with radial defects Hemifacial microsomia - radial defects Moeschler-Clarren syndrome OMIM:141400 Hemifacial microsomia - radial defects prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2353 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 ICD10:Q75.8 Moeschler-Clarren syndrome EXACT Hemifacial microsomia - radial defects EXACT Moeschler-Clarren syndrome Microspherophakia - metaphyseal dysplasia Verloes-Van Maldergem-de Marneffe syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2355 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 OMIM:157151 Verloes-Van Maldergem-de Marneffe syndrome EXACT Verloes-Van Maldergem-de Marneffe syndrome Ear-patella-short stature syndrome Meier-Gorlin syndrome Gene [OrphaNum:260335 ; Name:origin recognition complex, subunit 4 ; Symbol:ORC4 ; xref: REACTOME:O43929 ; xref: ENSEMBL:ENSG00000115947 ; xref: HGNC:8490 ; xref: OMIM:603056 ; xref: GENATLAS:ORC4 ; xref: UNIPROTKB/SWISSPROT:O43929] OMIM:613803 OMIM:613804 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:260341 ; Name:chromatin licensing and DNA replication factor 1 ; Symbol:CDT1 ; xref: REACTOME:Q9H211 ; xref: HGNC:24576 ; xref: OMIM:605525 ; xref: GENATLAS:CDT1 ; xref: UNIPROTKB/SWISSPROT:Q9H211 ; xref: ENSEMBL:ENSG00000167513] OMIM:613805 Gene [OrphaNum:260345 ; Name:cell division cycle 6 homolog (S. cerevisiae) ; Symbol:CDC6 ; xref: REACTOME:Q99741 ; xref: ENSEMBL:ENSG00000094804 ; xref: HGNC:1744 ; xref: OMIM:602627 ; xref: GENATLAS:CDC6 ; xref: UNIPROTKB/SWISSPROT:Q99741] Gene [OrphaNum:260588 ; Name:origin recognition complex, subunit 1 ; Symbol:ORC1 ; xref: REACTOME:Q13415 ; xref: ENSEMBL:ENSG00000085840 ; xref: HGNC:8487 ; xref: OMIM:601902 ; xref: GENATLAS:ORC1 ; xref: UNIPROTKB/SWISSPROT:Q13415] Gene [OrphaNum:260339 ; Name:origin recognition complex, subunit 6 ; Symbol:ORC6 ; xref: ENSEMBL:ENSG00000091651 ; xref: REACTOME:Q9Y5N6 ; xref: HGNC:17151 ; xref: OMIM:607213 ; xref: GENATLAS:ORC6 ; xref: UNIPROTKB/SWISSPROT:Q9Y5N6] Meier-Gorlin syndrome OMIM:224690 OMIM:613800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 Orphanet ID- 2357 EXACT Meier-Gorlin syndrome MIDAS syndrome MCOPS7 MLS syndrome Microphthalmia - dermal aplasia - sclerocornea Microphthalmia with linear skin defects syndrome Microphthalmia, dermal aplasia, and sclerocornea Syndromic microphthalmia type 7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 Microphthalmia with linear skin defects syndrome Orphanet ID- 2359 OMIM:309801 MCOPS7 ICD10:Q11.2 Microphthalmia - dermal aplasia - sclerocornea Gene [OrphaNum:122378 ; Name:Holocytochrome c synthase (cytochrome c heme-lyase) ; Symbol:HCCS ; xref: GENATLAS:HCCS ; xref: HGNC:4837 ; xref: OMIM:300056 ; xref: UNIPROTKB/SWISSPROT:P53701 ; xref: ENSEMBL:ENSG00000004961] Microphthalmia, dermal aplasia, and sclerocornea MLS syndrome Syndromic microphthalmia type 7 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; EXACT Syndromic microphthalmia type 7 EXACT Microphthalmia with linear skin defects syndrome EXACT Microphthalmia, dermal aplasia, and sclerocornea EXACT Microphthalmia - dermal aplasia - sclerocornea EXACT MLS syndrome EXACT MCOPS7 Rendu-Osler-Weber disease HHT Hereditary hemorrhagic telangiectasia Rendu-Osler disease OMIM:187300 Rendu-Osler disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 Gene [OrphaNum:117764 ; Name:Activin A receptor type II-like 1 ; Symbol:ACVRL1 ; xref: GENATLAS:ACVRL1 ; xref: HGNC:175 ; xref: OMIM:601284 ; xref: UNIPROTKB/SWISSPROT:P37023 ; xref: ENSEMBL:ENSG00000139567] Hereditary hemorrhagic telangiectasia Gene [OrphaNum:119727 ; Name:SMAD family member 4 ; Symbol:SMAD4 ; xref: GENATLAS:SMAD4 ; xref: HGNC:6770 ; xref: OMIM:600993 ; xref: UNIPROTKB/SWISSPROT:Q13485 ; xref: ENSEMBL:ENSG00000141646 ; xref: REACTOME:Q13485] OMIM:601101 OMIM:610655 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:I78.0 OMIM:600376 HHT Gene [OrphaNum:121536 ; Name:Endoglin (Osler-Rendu-Weber syndrome 1) ; Symbol:ENG ; xref: GENATLAS:ENG ; xref: HGNC:3349 ; xref: OMIM:131195 ; xref: UNIPROTKB/SWISSPROT:P17813 ; xref: ENSEMBL:ENSG00000106991] Orphanet ID- 236 EXACT Rendu-Osler disease EXACT HHT EXACT Hereditary hemorrhagic telangiectasia Mietens syndrome Intellectual deficit, Mietens-Weber type OMIM:249600 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Intellectual deficit, Mietens-Weber type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 Orphanet ID- 2360 EXACT Intellectual deficit, Mietens-Weber type Mikati-Najjar-Sahli syndrome Microcephaly - hypergonadotropic hypogonadism - short stature prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2361 ICD10:E22.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558 Microcephaly - hypergonadotropic hypogonadism - short stature EXACT Microcephaly - hypergonadotropic hypogonadism - short stature Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 2362 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 Ackerman syndrome Pyramidal molar - glaucoma - upper abnormal lip ICD10:Q87.8 Pyramidal molar - glaucoma - upper abnormal lip Orphanet ID- 2363 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 OMIM:200970 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Pyramidal molar - glaucoma - upper abnormal lip MOMO syndrome Macrosomia - obesity - macrocephaly - ocular abnormalities Orphanet ID- 2364 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:157980 Macrosomia - obesity - macrocephaly - ocular abnormalities Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563 EXACT Macrosomia - obesity - macrocephaly - ocular abnormalities Tetramelic monodactyly Sommer-Hines syndrome Sommer-Hines syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564 OMIM:187510 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2365 EXACT Sommer-Hines syndrome Mononen-Karnes-Senac syndrome Skeletal dysplasia - brachydactyly prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Orphanet ID- 2366 Skeletal dysplasia - brachydactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565 OMIM:301940 EXACT Skeletal dysplasia - brachydactyly BOR syndrome Branchiootorenal syndrome ICD10:Q87.0 Branchiootorenal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 Gene [OrphaNum:138472 ; Name:SIX homeobox 5 ; Symbol:SIX5 ; xref: GENATLAS:SIX5 ; xref: HGNC:10891 ; xref: OMIM:600963 ; xref: UNIPROTKB/SWISSPROT:Q8N196 ; xref: ENSEMBL:ENSG00000177045] OMIM:113650 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 237 OMIM:610896 Gene [OrphaNum:118723 ; Name:SIX homeobox 1 ; Symbol:SIX1 ; xref: GENATLAS:SIX1 ; xref: HGNC:10887 ; xref: OMIM:601205 ; xref: UNIPROTKB/SWISSPROT:Q15475 ; xref: ENSEMBL:ENSG00000126778] Gene [OrphaNum:121651 ; Name:Eyes absent homolog 1 (Drosophila) ; Symbol:EYA1 ; xref: GENATLAS:EYA1 ; xref: HGNC:3519 ; xref: OMIM:601653 ; xref: UNIPROTKB/SWISSPROT:Q99502 ; xref: ENSEMBL:ENSG00000104313] EXACT Branchiootorenal syndrome X-linked immunoneurologic disorder Woods-Black-Norbury syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2571 OMIM:300076 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked dominant; Orphanet ID- 2371 Woods-Black-Norbury syndrome EXACT Woods-Black-Norbury syndrome Spastic ataxia - corneal dystrophy Bedouin spastic ataxia syndrome Mousa-Al Din-Al Nassar syndrome Spastic ataxia - ocular anomalies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Bedouin spastic ataxia syndrome Orphanet ID- 2372 OMIM:271320 Mousa-Al Din-Al Nassar syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 Spastic ataxia - ocular anomalies EXACT Bedouin spastic ataxia syndrome EXACT Spastic ataxia - ocular anomalies EXACT Mousa-Al Din-Al Nassar syndrome Moyamoya disease true Orphanet ID- 2373 Gene [OrphaNum:260602 ; Name:ring finger protein 213 ; Symbol:RNF213 ; xref: ENSEMBL:ENSG00000173821 ; xref: HGNC:14539 ; xref: GENATLAS:RNF213 ; xref: UNIPROTKB/SWISSPROT:Q63HN8 ; xref: OMIM:613768] Gene [OrphaNum:138831 ; Name:Actin, alpha 2, smooth muscle, aorta ; Symbol:ACTA2 ; xref: GENATLAS:ACTA2 ; xref: HGNC:130 ; xref: OMIM:102620 ; xref: UNIPROTKB/SWISSPROT:P62736 ; xref: REACTOME:P62736 ; xref: ENSEMBL:ENSG00000107796] OMIM:614042 ICD10:I67.5 OMIM:252350 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; OMIM:607151 OMIM:608796 Moynahan syndrome Alopecia-epilepsy-oligophrenia syndrome, Moynahan type Orphanet ID- 2374 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574 Alopecia-epilepsy-oligophrenia syndrome, Moynahan type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:203600 EXACT Alopecia-epilepsy-oligophrenia syndrome, Moynahan type Muckle-Wells syndrome Urticaria - deafness - amyloidosis prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:191900 ICD10:E85.0 Orphanet ID- 2375 Urticaria - deafness - amyloidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 ICD10:L50.8 Gene [OrphaNum:123821 ; Name:NLR family, pyrin domain containing 3 ; Symbol:NLRP3 ; xref: GENATLAS:NLRP3 ; xref: HGNC:16400 ; xref: OMIM:606416 ; xref: UNIPROTKB/SWISSPROT:Q96P20 ; xref: ENSEMBL:ENSG00000162711 ; xref: REACTOME:Q96P20] EXACT Urticaria - deafness - amyloidosis MULIBREY nanism MULIBREY dwarfism Muscle-liver-brain-eye nanism Perheentupa syndrome Pericardial constriction - growth failure Muscle-liver-brain-eye nanism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576 Pericardial constriction - growth failure Orphanet ID- 2376 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Elderly; Inheritance- Autosomal recessive; MULIBREY dwarfism Gene [OrphaNum:120289 ; Name:Tripartite motif-containing 37 ; Symbol:TRIM37 ; xref: GENATLAS:TRIM37 ; xref: HGNC:7523 ; xref: OMIM:605073 ; xref: UNIPROTKB/SWISSPROT:O94972 ; xref: ENSEMBL:ENSG00000108395 ; xref: REACTOME:O94972] OMIM:253250 Perheentupa syndrome EXACT Muscle-liver-brain-eye nanism EXACT Pericardial constriction - growth failure EXACT Perheentupa syndrome EXACT MULIBREY dwarfism MURCS association Klippel-Feil deformity - conductive deafness - absent vagina MRKH syndrome type 2 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 OMIM:601076 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; Klippel-Feil deformity - conductive deafness - absent vagina MRKH syndrome type 2 Orphanet ID- 2378 Mayer-Rokitansky-Küster-Hauser syndrome type 2 ICD10:Q87.8 EXACT Klippel-Feil deformity - conductive deafness - absent vagina EXACT Mayer-Rokitansky-Küster-Hauser syndrome type 2 EXACT Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia EXACT MRKH syndrome type 2 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus Furukawa-Takagi-Nakao syndrome OMIM:158500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579 Furukawa-Takagi-Nakao syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2379 EXACT Furukawa-Takagi-Nakao syndrome Blepharophimosis - epicanthus inversus - ptosis Blepharophimosis types 1 and 2 blepharophimosis-ptosis-epicanthus inversus syndrome true Gene [OrphaNum:121904 ; Name:Forkhead box L2 ; Symbol:FOXL2 ; xref: UNIPROTKB/SWISSPROT:P58012 ; xref: GENATLAS:FOXL2 ; xref: HGNC:1092 ; xref: OMIM:605597 ; xref: ENSEMBL:ENSG00000183770] OMIM:110100 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Blepharophimosis types 1 and 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 Orphanet ID- 238 ICD10:Q10.3 EXACT Blepharophimosis types 1 and 2 Shoulder and girdle defects - familial intellectual deficit Orphanet ID- 2381 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2580 Ataxia - pancytopenia Myelocerebellar disorder Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 OMIM:159550 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Myelocerebellar disorder Orphanet ID- 2383 EXACT Myelocerebellar disorder Myhre syndrome Facial dysmorphism - intellectual deficit - short stature - hearing loss prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:119727 ; Name:SMAD family member 4 ; Symbol:SMAD4 ; xref: GENATLAS:SMAD4 ; xref: HGNC:6770 ; xref: OMIM:600993 ; xref: UNIPROTKB/SWISSPROT:Q13485 ; xref: ENSEMBL:ENSG00000141646 ; xref: REACTOME:Q13485] Facial dysmorphism - intellectual deficit - short stature - hearing loss Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 OMIM:139210 Orphanet ID- 2385 EXACT Facial dysmorphism - intellectual deficit - short stature - hearing loss Myoclonus - cerebellar ataxia - deafness ICD10:G11.1 Orphanet ID- 2386 OMIM:159800 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 Hereditary myoclonus - progressive distal muscular atrophy Jankovic-Rivera syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 Orphanet ID- 2387 Gene [OrphaNum:121449 ; Name:N-acylsphingosine amidohydrolase (acid ceramidase) 1 ; Symbol:ASAH1 ; xref: REACTOME:Q13510 ; xref: GENATLAS:ASAH1 ; xref: HGNC:735 ; xref: UNIPROTKB/SWISSPROT:Q13510 ; xref: OMIM:613468 ; xref: ENSEMBL:ENSG00000104763] prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:G25.3 Jankovic-Rivera syndrome OMIM:159950 EXACT Jankovic-Rivera syndrome Tubular aggregate myopathy OMIM:160565 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G71.2 Orphanet ID- 2388 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 Carney complex Carney syndrome Myxoma - spotty pigmentation - endocrine overactivity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 Myxoma - spotty pigmentation - endocrine overactivity Orphanet ID- 2389 OMIM:160980 ICD10:D44.8 Gene [OrphaNum:123626 ; Name:Myosin, heavy chain 8, skeletal muscle, perinatal ; Symbol:MYH8 ; xref: GENATLAS:MYH8 ; xref: HGNC:7578 ; xref: OMIM:160741 ; xref: UNIPROTKB/SWISSPROT:P13535 ; xref: REACTOME:P13535 ; xref: ENSEMBL:ENSG00000133020] Gene [OrphaNum:118010 ; Name:Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) ; Symbol:PRKAR1A ; xref: GENATLAS:PRKAR1A ; xref: HGNC:9388 ; xref: OMIM:188830 ; xref: UNIPROTKB/SWISSPROT:P10644 ; xref: ENSEMBL:ENSG00000108946 ; xref: REACTOME:P10644] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Carney syndrome OMIM:605244 OMIM:608837 EXACT Myxoma - spotty pigmentation - endocrine overactivity EXACT Carney syndrome N syndrome Orphanet ID- 2390 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:310465 Nail patella-like - renal disease Salcedo syndrome Orphanet ID- 2392 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 Salcedo syndrome OMIM:256020 EXACT Salcedo syndrome 3M syndrome 3-M syndrome Dolicospondylic dysplasia Gloomy syndrome Le Merrer syndrome OMIM:614205 Gene [OrphaNum:201543 ; Name:Obscurin-like 1 ; Symbol:OBSL1 ; xref: ENSEMBL:ENSG00000124006 ; xref: GENATLAS:OBSL1 ; xref: HGNC:29092 ; xref: OMIM:610991 ; xref: UNIPROTKB/SWISSPROT:O75147] Gloomy syndrome OMIM:273750 Gene [OrphaNum:270465 ; Name:coiled-coil domain containing 8 ; Symbol:CCDC8 ; xref: ENSEMBL:ENSG00000169515 ; xref: HGNC:25367 ; xref: OMIM:614145 ; xref: GENATLAS:CCDC8 ; xref: UNIPROTKB/SWISSPROT:Q9H0W5] Gene [OrphaNum:120910 ; Name:Cullin 7 ; Symbol:CUL7 ; xref: GENATLAS:CUL7 ; xref: HGNC:21024 ; xref: OMIM:609577 ; xref: UNIPROTKB/SWISSPROT:Q14999 ; xref: ENSEMBL:ENSG00000044090 ; xref: REACTOME:Q14999] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; 3-M syndrome Dolicospondylic dysplasia ICD10:Q87.1 OMIM:612921 Orphanet ID- 2393 Le Merrer syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 EXACT Le Merrer syndrome EXACT Dolicospondylic dysplasia EXACT Gloomy syndrome EXACT 3-M syndrome Bird headed-dwarfism, Montreal type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617 Orphanet ID- 2396 OMIM:210700 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Low birth weight - dwarfism - dysgammaglobulinemia Christian-Rosenberg syndrome ICD10:D82.8 Christian-Rosenberg syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2621 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 2399 EXACT Christian-Rosenberg syndrome Mucopolysaccharidosis type 6 ARSB deficiency ASB deficiency Arylsulfatase B deficiency MPS6 MPSVI Maroteaux-Lamy disease Mucopolysaccharidosis VI N-acetylgalactosamine 4-sulfatase deficiency ARSB deficiency Mucopolysaccharidosis VI OMIM:253200 N-acetylgalactosamine 4-sulfatase deficiency ICD10:E76.2 MPS6 Arylsulfatase B deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; Maroteaux-Lamy disease Orphanet ID- 24 MPSVI ASB deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 EXACT MPS6 EXACT Arylsulfatase B deficiency EXACT ARSB deficiency EXACT Maroteaux-Lamy disease EXACT N-acetylgalactosamine 4-sulfatase deficiency EXACT Mucopolysaccharidosis VI EXACT MPSVI EXACT ASB deficiency Coffin-Lowry syndrome CLS prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; CLS ICD10:F78.8 Gene [OrphaNum:118405 ; Name:Ribosomal protein S6 kinase, 90kDa, polypeptide 3 ; Symbol:RPS6KA3 ; xref: GENATLAS:RPS6KA3 ; xref: HGNC:10432 ; xref: OMIM:300075 ; xref: UNIPROTKB/SWISSPROT:P51812 ; xref: REACTOME:P51812 ; xref: ENSEMBL:ENSG00000177189] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 OMIM:303600 Orphanet ID- 240 EXACT CLS Geleophysic dysplasia Geleophysic dwarfism OMIM:231050 OMIM:614185 Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] Gene [OrphaNum:183895 ; Name:ADAMTS-like 2 ; Symbol:ADAMTSL2 ; xref: ENSEMBL:ENSG00000197859 ; xref: HGNC:14631 ; xref: OMIM:612277 ; xref: GENATLAS:ADAMTSL2 ; xref: UNIPROTKB/SWISSPROT:Q86TH1] ICD10:Q87.1 Geleophysic dwarfism prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 Orphanet ID- 2401 EXACT Geleophysic dwarfism Mesomelic dwarfism - cleft palate - camptodactyly Reardon-Hall-Slaney syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2408 Reardon-Hall-Slaney syndrome ICD10:Q78.8 OMIM:249710 EXACT Reardon-Hall-Slaney syndrome Langer mesomelic dysplasia Mesomelic dwarfism, Langer type OMIM:249700 Orphanet ID- 2409 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Mesomelic dwarfism, Langer type Gene [OrphaNum:118707 ; Name:Short stature homeobox ; Symbol:SHOX ; xref: GENATLAS:SHOX ; xref: HGNC:10853 ; xref: OMIM:312865 ; xref: UNIPROTKB/SWISSPROT:O15266 ; xref: ENSEMBL:ENSG00000185960] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 ICD10:Q87.1 EXACT Mesomelic dwarfism, Langer type Mesomelic dwarfism, Nievergelt type Nievergelt syndrome Nievergelt syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2410 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633 OMIM:163400 ICD10:Q78.8 EXACT Nievergelt syndrome Mesomelic dwarfism, Reinhardt-Pfeiffer type Reinhardt-Pfeiffer mesomelic dysplasia Reinhardt-Pfeiffer syndrome OMIM:191400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634 Orphanet ID- 2411 Reinhardt-Pfeiffer syndrome ICD10:Q78.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Reinhardt-Pfeiffer mesomelic dysplasia EXACT Reinhardt-Pfeiffer syndrome EXACT Reinhardt-Pfeiffer mesomelic dysplasia Fibular aplasia - complex brachydactyly Du Pan syndrome Du Pan syndrome OMIM:228900 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 Orphanet ID- 2413 EXACT Du Pan syndrome Micromelic dwarfism, Fryns type Orphanet ID- 2415 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2641 ICD10:Q77.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601096 Microcephalic - primordial dwarfism, Toriello type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 Orphanet ID- 2417 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:251190 Microcephalic osteodysplastic primordial dwarfism types 1 and 3 MOPD types I and III Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type Primordial microcephalic dwarfism, Crachami type Taybi-Linder syndrome MOPD types I and III OMIM:210710 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Primordial microcephalic dwarfism, Crachami type OMIM:210730 Taybi-Linder syndrome Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type Gene [OrphaNum:265258 ; Name:RNA, U4atac small nuclear (U12-dependent splicing) ; Symbol:RNU4ATAC ; xref: ENSEMBL:ENSG00000208506 ; xref: HGNC:34016 ; xref: OMIM:601428] Orphanet ID- 2418 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 ICD10:Q87.1 EXACT MOPD types I and III EXACT Taybi-Linder syndrome EXACT Primordial microcephalic dwarfism, Crachami type EXACT Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type Crigler-Najjar syndrome Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin-UGT deficiency Hereditary unconjugated hyperbilirubinemia UGT deficiency OMIM:218800 ICD10:E80.5 OMIM:606785 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Bilirubin-UGT deficiency UGT deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 Orphanet ID- 242 Hereditary unconjugated hyperbilirubinemia Bilirubin uridinediphosphate glucuronosyltransferase deficiency EXACT Bilirubin uridinediphosphate glucuronosyltransferase deficiency EXACT Bilirubin-UGT deficiency EXACT Hereditary unconjugated hyperbilirubinemia EXACT UGT deficiency Osteoglophonic dwarfism Gene [OrphaNum:121802 ; Name:Fibroblast growth factor receptor 1 ; Symbol:FGFR1 ; xref: GENATLAS:FGFR1 ; xref: HGNC:3688 ; xref: OMIM:136350 ; xref: UNIPROTKB/SWISSPROT:P11362 ; xref: ENSEMBL:ENSG00000077782 ; xref: REACTOME:P11362] OMIM:166250 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2420 ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 Parastremmatic dwarfism OMIM:168400 ICD10:Q87.1 Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] Orphanet ID- 2421 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2646 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Dwarfism - intellectual deficit - eye abnormality Mollica-Pavone-Antener syndrome Mollica-Pavone-Antener syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2650 Orphanet ID- 2424 OMIM:223540 EXACT Mollica-Pavone-Antener syndrome Lenz-Majewski hyperostotic dwarfism Orphanet ID- 2429 OMIM:151050 ICD10:Q87.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Cowden syndrome Multiple hamartoma syndrome Orphanet ID- 243 ICD10:Q85.9 Multiple hamartoma syndrome Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] ICD10:Z80.9 OMIM:158350 Gene [OrphaNum:118554 ; Name:Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ; Symbol:SDHB ; xref: GENATLAS:SDHB ; xref: HGNC:10681 ; xref: OMIM:185470 ; xref: UNIPROTKB/SWISSPROT:P21912 ; xref: ENSEMBL:ENSG00000117118 ; xref: REACTOME:P21912] Gene [OrphaNum:118561 ; Name:Succinate dehydrogenase complex, subunit D, integral membrane protein ; Symbol:SDHD ; xref: GENATLAS:SDHD ; xref: HGNC:10683 ; xref: OMIM:602690 ; xref: UNIPROTKB/SWISSPROT:O14521 ; xref: ENSEMBL:ENSG00000204370 ; xref: REACTOME:O14521] prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 OMIM:612359 EXACT Multiple hamartoma syndrome Dwarfism - tall vertebrae Orphanet ID- 2432 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2661 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:126950 Keipert syndrome Nasodigitoacoustic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Nasodigitoacoustic syndrome OMIM:255980 Orphanet ID- 2433 EXACT Nasodigitoacoustic syndrome Nathalie syndrome Deafness - cataracts - skeletal anomalies ICD10:H91.9 Orphanet ID- 2434 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Deafness - cataracts - skeletal anomalies OMIM:255990 EXACT Deafness - cataracts - skeletal anomalies Nephropathy - deafness - hyperparathyroidism Edwards-Patton-Dilly syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668 Orphanet ID- 2435 Edwards-Patton-Dilly syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.8 OMIM:256120 EXACT Edwards-Patton-Dilly syndrome Nephrosis - deafness - urinary tract - digital malformations Braun-Bayer syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 Braun-Bayer syndrome Orphanet ID- 2436 OMIM:256200 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; EXACT Braun-Bayer syndrome Pierson syndrome Microcoria - congenital nephrosis Orphanet ID- 2437 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 Microcoria - congenital nephrosis OMIM:609049 Gene [OrphaNum:122971 ; Name:Laminin, beta 2 (laminin S) ; Symbol:LAMB2 ; xref: GENATLAS:LAMB2 ; xref: HGNC:6487 ; xref: OMIM:150325 ; xref: UNIPROTKB/SWISSPROT:P55268 ; xref: REACTOME:P55268 ; xref: ENSEMBL:ENSG00000172037] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:N04.9 EXACT Microcoria - congenital nephrosis Renal coloboma syndrome Coloboma of optic nerve with renal disease Papillo-renal syndrome Papillo-renal syndrome Gene [OrphaNum:124088 ; Name:Paired box 2 ; Symbol:PAX2 ; xref: GENATLAS:PAX2 ; xref: HGNC:8616 ; xref: OMIM:167409 ; xref: UNIPROTKB/SWISSPROT:Q02962 ; xref: ENSEMBL:ENSG00000075891] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 ICD10:Q14.2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:120330 Coloboma of optic nerve with renal disease ICD10:Q60.4 Orphanet ID- 2438 EXACT Coloboma of optic nerve with renal disease EXACT Papillo-renal syndrome Neu-Laxova syndrome Orphanet ID- 2439 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 OMIM:256520 ICD10:Q04.3 Crouzon disease Crouzon craniofacial dysostosis OMIM:123500 Orphanet ID- 244 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 ICD10:Q75.1 Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Crouzon craniofacial dysostosis prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Crouzon craniofacial dysostosis Neurofaciodigitorenal syndrome Freire Maia-Pinheiro-Opitz syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 Freire Maia-Pinheiro-Opitz syndrome Orphanet ID- 2441 OMIM:256690 EXACT Freire Maia-Pinheiro-Opitz syndrome Cyprus facial-neuromusculoskeletal syndrome OMIM:123853 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2442 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 Neuroectodermal-endocrine syndrome Oerter-Friedman-Anderson syndrome Orphanet ID- 2445 Oerter-Friedman-Anderson syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2676 EXACT Oerter-Friedman-Anderson syndrome Neurofibromatosis type 6 Café-au-lait spots syndrome NF6 NF6 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Café-au-lait spots syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678 Orphanet ID- 2446 ICD10:L81.3 OMIM:114030 EXACT NF6 EXACT Café-au-lait spots syndrome Infantile axonal neuropathy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2679 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G60.8 Orphanet ID- 2447 Sensory neuropathy - spastic paraplegia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G60.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2683 Orphanet ID- 2449 Gene [OrphaNum:119222 ; Name:Chaperonin containing TCP1, subunit 5 (epsilon) ; Symbol:CCT5 ; xref: GENATLAS:CCT5 ; xref: HGNC:1618 ; xref: OMIM:610150 ; xref: UNIPROTKB/SWISSPROT:P48643 ; xref: REACTOME:P48643 ; xref: ENSEMBL:ENSG00000150753] OMIM:256840 Neutropenia - monocytopenia - deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 Orphanet ID- 2452 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Nevo syndrome Cerebral gigantism, Nevo type OMIM:601451 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2453 Gene [OrphaNum:117888 ; Name:Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 ; Symbol:PLOD1 ; xref: GENATLAS:PLOD1 ; xref: HGNC:9081 ; xref: OMIM:153454 ; xref: UNIPROTKB/SWISSPROT:Q02809 ; xref: ENSEMBL:ENSG00000083444] Cerebral gigantism, Nevo type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2691 EXACT Cerebral gigantism, Nevo type Bifid nose OMIM:210400 Orphanet ID- 2457 OMIM:109740 ICD10:Q30.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 Arthrogryposis - renal dysfunction - cholestasis ARC syndrome OMIM:208085 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 2459 ARC syndrome OMIM:613404 Gene [OrphaNum:227089 ; Name:VPS33B interacting protein, apical-basolateral polarity regulator ; Symbol:VIPAR ; xref: UNIPROTKB/SWISSPROT:Q9H9C1 ; xref: HGNC:20347 ; xref: ENSEMBL:ENSG00000151445 ; xref: GENATLAS:VIPAR ; xref: OMIM:613401] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 Gene [OrphaNum:120480 ; Name:Vacuolar protein sorting 33 homolog B (yeast) ; Symbol:VPS33B ; xref: UNIPROTKB/SWISSPROT:Q9H267 ; xref: GENATLAS:VPS33B ; xref: HGNC:12712 ; xref: OMIM:608552 ; xref: ENSEMBL:ENSG00000184056] ICD10:Q89.7 EXACT ARC syndrome Cat-eye syndrome Chromosome 22 inversion/duplication Ocular coloboma - imperforate anus Gene [OrphaNum:119327 ; Name:Cat eye syndrome chromosome region, candidate 1 ; Symbol:CECR1 ; xref: GENATLAS:CECR1 ; xref: HGNC:1839 ; xref: OMIM:607575 ; xref: UNIPROTKB/SWISSPROT:Q9NZK5 ; xref: ENSEMBL:ENSG00000093072] ICD10:Q92.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 Ocular coloboma - imperforate anus Chromosome 22 inversion/duplication Orphanet ID- 246 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:119330 ; Name:Cat eye syndrome chromosome region, candidate 2 ; Symbol:CECR2 ; xref: GENATLAS:CECR2 ; xref: HGNC:1840 ; xref: OMIM:607576 ; xref: UNIPROTKB/SWISSPROT:Q9BXF3 ; xref: ENSEMBL:ENSG00000099954] OMIM:115470 EXACT Ocular coloboma - imperforate anus EXACT Chromosome 22 inversion/duplication Knuckle pads - leuconychia - sensorineural deafness Bart-Pumphrey syndrome Gene [OrphaNum:122129 ; Name:Gap junction protein, beta 2, 26kDa ; Symbol:GJB2 ; xref: GENATLAS:GJB2 ; xref: HGNC:4284 ; xref: OMIM:121011 ; xref: UNIPROTKB/SWISSPROT:P29033 ; xref: ENSEMBL:ENSG00000165474 ; xref: REACTOME:P29033] Orphanet ID- 2460 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Bart-Pumphrey syndrome OMIM:149200 EXACT Bart-Pumphrey syndrome Median nodule of the upper lip Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699 Orphanet ID- 2461 OMIM:151630 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Noonan-like syndrome with loose anagen hair Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 Orphanet ID- 2462 OMIM:607721 Gene [OrphaNum:220877 ; Name:Soc-2 suppressor of clear homolog (C. elegans) ; Symbol:SHOC2 ; xref: ENSEMBL:ENSG00000108061 ; xref: GENATLAS:SHOC2 ; xref: HGNC:15454 ; xref: OMIM:602775 ; xref: UNIPROTKB/SWISSPROT:Q9UQ13] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Ochoa syndrome Hydronephrosis - inverted smile Inverted smile - neurogenic bladder Partial facial palsy with urinary abnormalities Urofacial syndrome Inverted smile - neurogenic bladder Orphanet ID- 2465 Hydronephrosis - inverted smile prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 Partial facial palsy with urinary abnormalities Urofacial syndrome Gene [OrphaNum:235189 ; Name:Heparanase 2 ; Symbol:HPSE2 ; xref: ENSEMBL:ENSG00000172987 ; xref: HGNC:18374 ; xref: GENATLAS:HPSE2 ; xref: OMIM:613469 ; xref: UNIPROTKB/SWISSPROT:Q8WWQ2] OMIM:236730 EXACT Hydronephrosis - inverted smile EXACT Inverted smile - neurogenic bladder EXACT Urofacial syndrome EXACT Partial facial palsy with urinary abnormalities Oculocerebrofacial syndrome, Kaufman type Orphanet ID- 2468 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:244450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 ICD10:Q87.0 Oculodental syndrome, Rutherfurd type Gingival hypertrophy - corneal dystrophy Rutherfurd syndrome Orphanet ID- 2470 ICD10:Q87.8 Rutherfurd syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709 OMIM:180900 Gingival hypertrophy - corneal dystrophy EXACT Rutherfurd syndrome EXACT Gingival hypertrophy - corneal dystrophy Oculodentodigital dysplasia Meyer-Schwickerath syndrome ODDD syndrome Oculodentoosseous dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 ICD10:Q87.8 Gene [OrphaNum:122102 ; Name:Gap junction protein, alpha 1, 43kDa ; Symbol:GJA1 ; xref: GENATLAS:GJA1 ; xref: HGNC:4274 ; xref: OMIM:121014 ; xref: UNIPROTKB/SWISSPROT:P17302 ; xref: REACTOME:P17302 ; xref: ENSEMBL:ENSG00000152661] Oculodentoosseous dysplasia Meyer-Schwickerath syndrome ODDD syndrome OMIM:257850 OMIM:164200 Orphanet ID- 2471 EXACT Meyer-Schwickerath syndrome EXACT Oculodentoosseous dysplasia EXACT ODDD syndrome Oculofaciocardiodental syndrome Cataract - microphthalmia - radiculomegaly - septal heart defect MCOPS2 OFCD syndrome Syndromic microphthalmia type 2 ICD10:Q11.2 OFCD syndrome MCOPS2 Cataract - microphthalmia - radiculomegaly - septal heart defect prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Gene [OrphaNum:119012 ; Name:BCL6 co-repressor ; Symbol:BCOR ; xref: GENATLAS:BCOR ; xref: HGNC:20893 ; xref: OMIM:300485 ; xref: UNIPROTKB/SWISSPROT:Q6W2J9 ; xref: ENSEMBL:ENSG00000183337] Orphanet ID- 2473 OMIM:300166 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 Syndromic microphthalmia type 2 EXACT Syndromic microphthalmia type 2 EXACT OFCD syndrome EXACT Cataract - microphthalmia - radiculomegaly - septal heart defect EXACT MCOPS2 Oculoosteocutaneous syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:211370 Orphanet ID- 2474 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 Oculo-palato-cerebral syndrome Oculo-palato-cerebral dwarfism Orphanet ID- 2475 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:257910 Oculo-palato-cerebral dwarfism EXACT Oculo-palato-cerebral dwarfism Oculo-skeletal-renal syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2477 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2716 Oculotrichoanal syndrome MOTA syndrome Manitoba oculotrichoanal syndrome Marles syndrome Marles-Greenberg-Persaud syndrome OMIM:248450 Gene [OrphaNum:220909 ; Name:FRAS1 related extracellular matrix 1 ; Symbol:FREM1 ; xref: ENSEMBL:ENSG00000164946 ; xref: GENATLAS:FREM1 ; xref: HGNC:23399 ; xref: OMIM:608944 ; xref: UNIPROTKB/SWISSPROT:Q5H8C1] Marles syndrome Orphanet ID- 2478 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 Manitoba oculotrichoanal syndrome MOTA syndrome Marles-Greenberg-Persaud syndrome EXACT Manitoba oculotrichoanal syndrome EXACT Marles syndrome EXACT MOTA syndrome EXACT Marles-Greenberg-Persaud syndrome Oculotrichodysplasia Cecato de Lima-Pinheiro syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 2479 OMIM:257960 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 Cecato de Lima-Pinheiro syndrome EXACT Cecato de Lima-Pinheiro syndrome Oculocerebral hypopigmentation syndrome, Cross type Cross syndrome ICD10:E70.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2480 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 OMIM:257800 Cross syndrome EXACT Cross syndrome Odonto-onycho-dermal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 Orphanet ID- 2482 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:123345 ; Name:Wingless-type MMTV integration site family, member 10A ; Symbol:WNT10A ; xref: GENATLAS:WNT10A ; xref: HGNC:13829 ; xref: OMIM:606268 ; xref: UNIPROTKB/SWISSPROT:Q9GZT5 ; xref: REACTOME:Q9GZT5 ; xref: ENSEMBL:ENSG00000135925] OMIM:257980 Odonto-onycho dysplasia - alopecia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2483 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 Odontotrichomelic syndrome Freire-Maia syndrome OMIM:273400 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 Freire-Maia syndrome Orphanet ID- 2484 EXACT Freire-Maia syndrome Odontomatosis - aortae esophagus stenosis Boder syndrome OMIM:164330 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724 Boder syndrome Orphanet ID- 2485 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Boder syndrome Blepharophimosis-intellectual deficit syndrome, Ohdo type BMRS, Ohdo type Blepharophimosis syndrome, Ohdo type Blepharophimosis-intellectual deficit syndrome, Say-Barber/ Biesecker/Young-Simpson type Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Blepharophimosis-intellectual deficit syndrome, Say-Barber/ Biesecker/Young-Simpson type Ohdo syndrome OMIM:249620 Orphanet ID- 2489 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 Blepharophimosis syndrome, Ohdo type prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; BMRS, Ohdo type Ohdo-Madokoro-Sonoda syndrome EXACT Blepharophimosis syndrome, Ohdo type EXACT Blepharophimosis-intellectual deficit syndrome, Say-Barber/ Biesecker/Young-Simpson type EXACT Ohdo syndrome EXACT Ohdo-Madokoro-Sonoda syndrome EXACT BMRS, Ohdo type Chediak-Higashi syndrome Orphanet ID- 249 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 Gene [OrphaNum:123318 ; Name:Lysosomal trafficking regulator ; Symbol:LYST ; xref: ENSEMBL:ENSG00000143669 ; xref: GENATLAS:LYST ; xref: HGNC:1968 ; xref: OMIM:606897 ; xref: UNIPROTKB/SWISSPROT:Q99698] ICD10:E70.3 OMIM:214500 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Postaxial tetramelic oligodactyly Orphanet ID- 2490 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730 OMIM:176240 Taurodontia - absent teeth - sparse hair prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 2491 OMIM:272980 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2731 Olivopontocerebellar atrophy - deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732 Orphanet ID- 2492 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Omodysplasia Orphanet ID- 2493 ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Lethal omphalocele-cleft palate syndrome Czeizel syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Czeizel syndrome Orphanet ID- 2496 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 OMIM:258320 EXACT Czeizel syndrome Ondine syndrome CCHS Central congenital hypoventilation syndrome Congenital central alveolar hypoventilation syndrome Ondine curse Gene [OrphaNum:122076 ; Name:Glial cell derived neurotrophic factor ; Symbol:GDNF ; xref: GENATLAS:GDNF ; xref: HGNC:4232 ; xref: OMIM:600837 ; xref: UNIPROTKB/SWISSPROT:P39905 ; xref: ENSEMBL:ENSG00000168621 ; xref: REACTOME:P39905] Gene [OrphaNum:117805 ; Name:Paired-like homeobox 2b ; Symbol:PHOX2B ; xref: GENATLAS:PHOX2B ; xref: HGNC:9143 ; xref: OMIM:603851 ; xref: UNIPROTKB/SWISSPROT:Q99453 ; xref: ENSEMBL:ENSG00000109132] CCHS Gene [OrphaNum:159769 ; Name:Achaete-scute complex homolog 1 (Drosophila) ; Symbol:ASCL1 ; xref: GENATLAS:ASCL1 ; xref: HGNC:738 ; xref: OMIM:100790 ; xref: UNIPROTKB/SWISSPROT:P50553 ; xref: ENSEMBL:ENSG00000139352] Ondine curse Orphanet ID- 2497 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] Gene [OrphaNum:121284 ; Name:Endothelin 3 ; Symbol:EDN3 ; xref: GENATLAS:EDN3 ; xref: HGNC:3178 ; xref: OMIM:131242 ; xref: UNIPROTKB/SWISSPROT:P14138 ; xref: ENSEMBL:ENSG00000124205 ; xref: REACTOME:P14138] Gene [OrphaNum:119027 ; Name:Brain-derived neurotrophic factor ; Symbol:BDNF ; xref: GENATLAS:BDNF ; xref: HGNC:1033 ; xref: OMIM:113505 ; xref: UNIPROTKB/SWISSPROT:P23560 ; xref: ENSEMBL:ENSG00000176697] Central congenital hypoventilation syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:209880 ICD10:G47.3 Congenital central alveolar hypoventilation syndrome EXACT Congenital central alveolar hypoventilation syndrome EXACT CCHS EXACT Ondine curse EXACT Central congenital hypoventilation syndrome Onycho-tricho-dysplasia - neutropenia Itin syndrome ONMR syndrome Trichothiodystrophy type G Trichothiodystrophy type G Itin syndrome ONMR syndrome ICD10:L67.8 ICD10:D70 OMIM:258360 Orphanet ID- 2499 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2739 EXACT Trichothiodystrophy type G EXACT Itin syndrome EXACT ONMR syndrome Ophthalmomandibulomelic dysplasia OMM syndrome Pillay syndrome Orphanet ID- 2501 OMIM:164900 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741 OMM syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pillay syndrome EXACT OMM syndrome EXACT Pillay syndrome Ophthalmoplegia - intellectual deficit - lingua scrotalis Levic-Stefanovic-Nikolic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 OMIM:165150 Levic-Stefanovic-Nikolic syndrome Orphanet ID- 2503 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Levic-Stefanovic-Nikolic syndrome Oral-facial-digital syndrome type 1 OFD1 Orofaciodigital syndrome type 1 Papillon-Leage-Psaume syndrome Orphanet ID- 2506 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Gene [OrphaNum:123982 ; Name:Oral-facial-digital syndrome 1 ; Symbol:OFD1 ; xref: GENATLAS:OFD1 ; xref: HGNC:2567 ; xref: OMIM:300170 ; xref: UNIPROTKB/SWISSPROT:O75665 ; xref: REACTOME:O75665 ; xref: ENSEMBL:ENSG00000046651] Orofaciodigital syndrome type 1 ICD10:Q87.0 OFD1 OMIM:311200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Papillon-Leage-Psaume syndrome EXACT Papillon-Leage-Psaume syndrome EXACT OFD1 EXACT Orofaciodigital syndrome type 1 Oral-facial-digital syndrome type 2 Mohr syndrome OFD2 Orofaciodigital syndrome type 2 Orphanet ID- 2507 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OFD2 ICD10:Q87.0 Orofaciodigital syndrome type 2 OMIM:252100 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 Mohr syndrome EXACT OFD2 EXACT Orofaciodigital syndrome type 2 EXACT Mohr syndrome Oral-facial-digital syndrome type 3 OFD3 Orofaciodigital syndrome type 3 Sugarman syndrome Sugarman syndrome Orphanet ID- 2508 OMIM:258850 ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2752 Orofaciodigital syndrome type 3 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OFD3 EXACT OFD3 EXACT Sugarman syndrome EXACT Orofaciodigital syndrome type 3 Oral-facial-digital syndrome type 4 Baraitser-Burn syndrome OFD4 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 4 ICD10:Q87.0 Baraitser-Burn syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 OFD4 OMIM:258860 Orphanet ID- 2509 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Orofaciodigital syndrome type 4 EXACT OFD4 EXACT Baraitser-Burn syndrome Joubert syndrome with orofaciodigital defect OFD6 Oral-facial-digital syndrome type 6 Orofaciodigital syndrome type 6 Polydactyly - cleft lip/palate - psychomotor retardation Varadi-Papp syndrome Váradi syndrome ICD10:Q87.0 Orofaciodigital syndrome type 6 Varadi-Papp syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:277170 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Gene [OrphaNum:221342 ; Name:Transmembrane protein 216 ; Symbol:TMEM216 ; xref: ENSEMBL:ENSG00000187049 ; xref: GENATLAS:TMEM216 ; xref: HGNC:25018 ; xref: OMIM:613277 ; xref: UNIPROTKB/SWISSPROT:Q9P0N5] Oral-facial-digital syndrome type 6 Polydactyly - cleft lip/palate - psychomotor retardation Váradi syndrome Gene [OrphaNum:268061 ; Name:kinesin family member 7 ; Symbol:KIF7 ; xref: HGNC:30497 ; xref: OMIM:611254 ; xref: GENATLAS:KIF7 ; xref: UNIPROTKB/SWISSPROT:Q2M1P5 ; xref: ENSEMBL:ENSG00000166813] OMIM:300804 Orphanet ID- 2510 Gene [OrphaNum:123982 ; Name:Oral-facial-digital syndrome 1 ; Symbol:OFD1 ; xref: GENATLAS:OFD1 ; xref: HGNC:2567 ; xref: OMIM:300170 ; xref: UNIPROTKB/SWISSPROT:O75665 ; xref: REACTOME:O75665 ; xref: ENSEMBL:ENSG00000046651] OFD6 ICD10:Q04.3 EXACT Oral-facial-digital syndrome type 6 EXACT Varadi-Papp syndrome EXACT Váradi syndrome EXACT Orofaciodigital syndrome type 6 EXACT Polydactyly - cleft lip/palate - psychomotor retardation EXACT OFD6 Oral-facial-digital syndrome type 8 Edwards syndrome OFD8 Orofaciodigital syndrome type 8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; Orofaciodigital syndrome type 8 Edwards syndrome ICD10:Q87.0 OFD8 OMIM:300484 Orphanet ID- 2511 EXACT Edwards syndrome EXACT OFD8 EXACT Orofaciodigital syndrome type 8 OSLAM syndrome Osteosarcoma - limb anomalies - erythroid macrocytosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 Osteosarcoma - limb anomalies - erythroid macrocytosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:165660 Orphanet ID- 2515 ICD10:C41.9 EXACT Osteosarcoma - limb anomalies - erythroid macrocytosis Progressive osseous heteroplasia Familial ectopic ossification Orphanet ID- 2516 OMIM:166350 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] Familial ectopic ossification EXACT Familial ectopic ossification Osteocraniostenosis Gracile bone dysplasia Osteocraniosplenic syndrome Gracile bone dysplasia OMIM:602361 Orphanet ID- 2517 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic; Osteocraniosplenic syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 ICD10:Q78.0 EXACT Gracile bone dysplasia EXACT Osteocraniosplenic syndrome Hypertrichotic osteochondrodysplasia Gene [OrphaNum:117673 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 9 ; Symbol:ABCC9 ; xref: GENATLAS:ABCC9 ; xref: HGNC:60 ; xref: OMIM:601439 ; xref: UNIPROTKB/SWISSPROT:O60706 ; xref: ENSEMBL:ENSG00000069431 ; xref: REACTOME:O60706] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2765 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2518 OMIM:239850 Abetalipoproteinemia Bassen-Kornzweig disease Homozygous familial hypobetalipoproteinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 Orphanet ID- 252 OMIM:200100 Gene [OrphaNum:121386 ; Name:Apolipoprotein B (including Ag(x) antigen) ; Symbol:APOB ; xref: ENSEMBL:ENSG00000084674 ; xref: REACTOME:P04114 ; xref: GENATLAS:APOB ; xref: HGNC:603 ; xref: OMIM:107730 ; xref: UNIPROTKB/SWISSPROT:P04114] Homozygous familial hypobetalipoproteinemia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123576 ; Name:Microsomal triglyceride transfer protein ; Symbol:MTTP ; xref: GENATLAS:MTTP ; xref: HGNC:7467 ; xref: OMIM:157147 ; xref: UNIPROTKB/SWISSPROT:P55157 ; xref: ENSEMBL:ENSG00000138823 ; xref: REACTOME:P55157] Bassen-Kornzweig disease ICD10:E78.6 EXACT Bassen-Kornzweig disease EXACT Homozygous familial hypobetalipoproteinemia Carpotarsal osteochondromatosis Maroteaux-Le Merrer-Bensahel syndrome Maroteaux-Le Merrer-Bensahel syndrome OMIM:127820 Orphanet ID- 2520 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Maroteaux-Le Merrer-Bensahel syndrome Blount disease Infantile tibia vara Osteochondrosis deformans tibiae Tibia vara Blount prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Osteochondrosis deformans tibiae ICD10:M92.5 OMIM:259200 Infantile tibia vara Tibia vara Blount OMIM:188700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768 Orphanet ID- 2521 EXACT Tibia vara Blount EXACT Osteochondrosis deformans tibiae EXACT Infantile tibia vara Familial osteodysplasia, Anderson type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769 OMIM:259250 Orphanet ID- 2522 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Polycystic lipomembranous osteodysplasia - sclerosing leukoencephalopathy Nasu-Hakola disease PLOSL Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 ICD10:E75.2 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Autosomal recessive; Nasu-Hakola disease Gene [OrphaNum:120356 ; Name:TYRO protein tyrosine kinase binding protein ; Symbol:TYROBP ; xref: GENATLAS:TYROBP ; xref: HGNC:12449 ; xref: OMIM:604142 ; xref: UNIPROTKB/SWISSPROT:O43914 ; xref: REACTOME:O43914 ; xref: ENSEMBL:ENSG00000011600] Orphanet ID- 2523 OMIM:221770 PLOSL Gene [OrphaNum:120249 ; Name:Triggering receptor expressed on myeloid cells 2 ; Symbol:TREM2 ; xref: GENATLAS:TREM2 ; xref: HGNC:17761 ; xref: OMIM:605086 ; xref: UNIPROTKB/SWISSPROT:Q9NZC2 ; xref: ENSEMBL:ENSG00000095970 ; xref: REACTOME:Q9NZC2] EXACT PLOSL EXACT Nasu-Hakola disease Multicentric carpo-tarsal osteolysis with or without nephropathy Idiopathic multicentric osteolysis with or without nephropathy Idiopathic multicentric osteolysis with or without nephropathy prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:293867 ; Name:V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) ; Symbol:MAFB ; xref: HGNC:6408 ; xref: OMIM:608968 ; xref: GENATLAS:MAFB ; xref: UNIPROTKB/SWISSPROT:Q9Y5Q3] Orphanet ID- 2524 OMIM:166300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 EXACT Idiopathic multicentric osteolysis with or without nephropathy Autosomal recessive distal osteolysis syndrome Distal osteolysis - short stature - intellectual deficit Petit-Fryns syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 Distal osteolysis - short stature - intellectual deficit Petit-Fryns syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:259610 Orphanet ID- 2526 EXACT Petit-Fryns syndrome EXACT Distal osteolysis - short stature - intellectual deficit Osteomesopyknosis Axial osteosclerosis Axial osteosclerosis OMIM:166450 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 Orphanet ID- 2527 EXACT Axial osteosclerosis Osteopathia striata - pigmentary dermopathy - white forelock Whyte-Murphy syndrome OMIM:311280 Whyte-Murphy syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 ICD10:Q77.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant; Orphanet ID- 2528 EXACT Whyte-Murphy syndrome Osteopathia striata - cranial sclerosis Hyperostosis generalisata with striations Robinow-Unger syndrome Robinow-Unger syndrome OMIM:300373 Gene [OrphaNum:173515 ; Name:Family with sequence similarity 123B ; Symbol:FAM123B ; xref: GENATLAS:FAM123B ; xref: HGNC:26837 ; xref: OMIM:300647 ; xref: UNIPROTKB/SWISSPROT:Q5JTC6 ; xref: ENSEMBL:ENSG00000184675 ; xref: REACTOME:Q5JTC6] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Hyperostosis generalisata with striations Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 Orphanet ID- 2529 ICD10:Q78.8 EXACT Robinow-Unger syndrome EXACT Hyperostosis generalisata with striations Alagille syndrome Alagille-Watson syndrome Arteriohepatic dysplasia Syndromic bile duct paucity Orphanet ID- 253 Arteriohepatic dysplasia Syndromic bile duct paucity ICD10:Q44.7 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Alagille-Watson syndrome OMIM:610205 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 OMIM:118450 EXACT Alagille-Watson syndrome EXACT Arteriohepatic dysplasia EXACT Syndromic bile duct paucity Autosomal recessive malignant osteopetrosis Infantile malignant osteopetrosis Gene [OrphaNum:120160 ; Name:Tumor necrosis factor receptor superfamily, member 11a, NFKB activator ; Symbol:TNFRSF11A ; xref: GENATLAS:TNFRSF11A ; xref: HGNC:11908 ; xref: OMIM:603499 ; xref: UNIPROTKB/SWISSPROT:Q9Y6Q6 ; xref: ENSEMBL:ENSG00000141655] Infantile malignant osteopetrosis Gene [OrphaNum:299652 ; Name:Sorting nexin 10 ; Symbol:SNX10 ; xref: HGNC:14974 ; xref: GENATLAS:SNX10 ; xref: UNIPROTKB/SWISSPROT:Q9Y5X0] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:611490 Gene [OrphaNum:124029 ; Name:Osteopetrosis associated transmembrane protein 1 ; Symbol:OSTM1 ; xref: GENATLAS:OSTM1 ; xref: HGNC:21652 ; xref: OMIM:607649 ; xref: UNIPROTKB/SWISSPROT:Q86WC4 ; xref: ENSEMBL:ENSG00000081087] Gene [OrphaNum:119990 ; Name:T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 ; Symbol:TCIRG1 ; xref: GENATLAS:TCIRG1 ; xref: HGNC:11647 ; xref: OMIM:604592 ; xref: UNIPROTKB/SWISSPROT:Q13488 ; xref: ENSEMBL:ENSG00000110719 ; xref: REACTOME:Q13488] OMIM:259720 Gene [OrphaNum:159048 ; Name:Tumor necrosis factor (ligand) superfamily, member 11 ; Symbol:TNFSF11 ; xref: ENSEMBL:ENSG00000120659 ; xref: GENATLAS:TNFSF11 ; xref: HGNC:11926 ; xref: OMIM:602642 ; xref: UNIPROTKB/SWISSPROT:O14788] OMIM:259700 ICD10:Q78.2 Orphanet ID- 2530 OMIM:259710 Gene [OrphaNum:119462 ; Name:Chloride channel 7 ; Symbol:CLCN7 ; xref: GENATLAS:CLCN7 ; xref: HGNC:2025 ; xref: OMIM:602727 ; xref: UNIPROTKB/SWISSPROT:P51798 ; xref: ENSEMBL:ENSG00000103249] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 EXACT Infantile malignant osteopetrosis Autosomal dominant osteopetrosis type 1 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:123115 ; Name:Low density lipoprotein receptor-related protein 5 ; Symbol:LRP5 ; xref: UNIPROTKB/SWISSPROT:O75197 ; xref: GENATLAS:LRP5 ; xref: HGNC:6697 ; xref: OMIM:603506 ; xref: ENSEMBL:ENSG00000162337] ICD10:Q78.2 OMIM:607634 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 Orphanet ID- 2532 Buschke-Ollendorff syndrome Disseminated dermatofibrosis with osteopoikilosis Gene [OrphaNum:123031 ; Name:LEM domain containing 3 ; Symbol:LEMD3 ; xref: GENATLAS:LEMD3 ; xref: HGNC:28887 ; xref: OMIM:607844 ; xref: UNIPROTKB/SWISSPROT:Q9Y2U8 ; xref: ENSEMBL:ENSG00000174106] ICD10:Q78.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1306 Orphanet ID- 2533 OMIM:166700 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Disseminated dermatofibrosis with osteopoikilosis EXACT Disseminated dermatofibrosis with osteopoikilosis Osteoporosis-oculocutaneous-hypopigmentation syndrome Hernandez-Fragoso syndrome Oochs syndrome Hernandez-Fragoso syndrome OMIM:601220 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Oochs syndrome Orphanet ID- 2534 EXACT Oochs syndrome EXACT Hernandez-Fragoso syndrome Osteoporosis - macrocephaly - blindness - joint hyperlaxity Heide syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Heide syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2787 Orphanet ID- 2535 EXACT Heide syndrome Osteoporosis - pseudoglioma OPPG Ocular form of osteogenesis imperfecta ICD10:Q78.0 Orphanet ID- 2536 Ocular form of osteogenesis imperfecta OPPG prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 OMIM:259770 ICD10:H44.8 Gene [OrphaNum:123115 ; Name:Low density lipoprotein receptor-related protein 5 ; Symbol:LRP5 ; xref: UNIPROTKB/SWISSPROT:O75197 ; xref: GENATLAS:LRP5 ; xref: HGNC:6697 ; xref: OMIM:603506 ; xref: ENSEMBL:ENSG00000162337] EXACT OPPG EXACT Ocular form of osteogenesis imperfecta Lateral meningocele syndrome Lehman syndrome Orphanet ID- 2537 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 Lehman syndrome ICD10:Q87.5 OMIM:130720 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Lehman syndrome Autosomal dominant osteosclerosis, Worth type Endosteal hyperostosis, Worth type Worth syndrome Worth syndrome ICD10:Q78.8 OMIM:144750 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Endosteal hyperostosis, Worth type Gene [OrphaNum:123115 ; Name:Low density lipoprotein receptor-related protein 5 ; Symbol:LRP5 ; xref: UNIPROTKB/SWISSPROT:O75197 ; xref: GENATLAS:LRP5 ; xref: HGNC:6697 ; xref: OMIM:603506 ; xref: ENSEMBL:ENSG00000162337] Orphanet ID- 2538 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 EXACT Endosteal hyperostosis, Worth type EXACT Worth syndrome Otodental syndrome Globodontia Otodental dysplasia Globodontia Gene [OrphaNum:159580 ; Name:Fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) ; Symbol:FGF3 ; xref: GENATLAS:FGF3 ; xref: HGNC:3681 ; xref: OMIM:164950 ; xref: UNIPROTKB/SWISSPROT:P11487 ; xref: REACTOME:P11487 ; xref: ENSEMBL:ENSG00000186895] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:K00.2 OMIM:166750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 Otodental dysplasia Orphanet ID- 2539 ICD10:H90.3 EXACT Otodental dysplasia EXACT Globodontia Aicardi syndrome Corpus callosum agenesis of with chorioretinal abnormality OMIM:304050 Orphanet ID- 254 Corpus callosum agenesis of with chorioretinal abnormality prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 ICD10:Q04.0 EXACT Corpus callosum agenesis of with chorioretinal abnormality Otofaciocervical syndrome Fara-Chlupackova syndrome OFC syndrome OMIM:166780 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121651 ; Name:Eyes absent homolog 1 (Drosophila) ; Symbol:EYA1 ; xref: GENATLAS:EYA1 ; xref: HGNC:3519 ; xref: OMIM:601653 ; xref: UNIPROTKB/SWISSPROT:Q99502 ; xref: ENSEMBL:ENSG00000104313] Fara-Chlupackova syndrome OFC syndrome Orphanet ID- 2540 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 ICD10:Q87.0 EXACT Fara-Chlupackova syndrome EXACT OFC syndrome Pachydermoperiostosis PDP Touraine-Solente-Gole syndrome ICD10:M89.4 OMIM:167100 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; PDP Gene [OrphaNum:168077 ; Name:Hydroxyprostaglandin dehydrogenase 15-(NAD) ; Symbol:HPGD ; xref: GENATLAS:HPGD ; xref: HGNC:5154 ; xref: OMIM:601688 ; xref: UNIPROTKB/SWISSPROT:P15428 ; xref: ENSEMBL:ENSG00000164120] OMIM:259100 OMIM:614441 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 Orphanet ID- 2542 Gene [OrphaNum:291830 ; Name:Solute carrier organic anion transporter family, member 2A1 ; Symbol:SLCO2A1 ; xref: GENATLAS:SLCO2A1 ; xref: ENSEMBL:ENSG00000174640 ; xref: HGNC:10955 ; xref: OMIM:601460 ; xref: UNIPROTKB/SWISSPROT:Q92959] Touraine-Solente-Gole syndrome EXACT Touraine-Solente-Gole syndrome EXACT PDP Pachygyria - intellectual deficit - epilepsy Kuzniecky syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 Kuzniecky syndrome OMIM:600176 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2543 Gene [OrphaNum:239949 ; Name:WD repeat domain 62 ; Symbol:WDR62 ; xref: OMIM:613583 ; xref: UNIPROTKB/SWISSPROT:O43379 ; xref: HGNC:24502 ; xref: ENSEMBL:ENSG00000075702 ; xref: GENATLAS:WDR62] EXACT Kuzniecky syndrome X-linked sideroblastic anemia - ataxia ICD10:D64.0 Orphanet ID- 2545 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:117646 ; Name:ATP-binding cassette, sub-family B (MDR/TAP), member 7 ; Symbol:ABCB7 ; xref: GENATLAS:ABCB7 ; xref: HGNC:48 ; xref: OMIM:300135 ; xref: UNIPROTKB/SWISSPROT:O75027 ; xref: ENSEMBL:ENSG00000131269 ; xref: REACTOME:O75027] OMIM:301310 W syndrome Pallister-W syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 2547 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 Pallister-W syndrome OMIM:311450 EXACT Pallister-W syndrome Partial pancreas agenesis OMIM:167755 Orphanet ID- 2548 Gene [OrphaNum:124173 ; Name:Pancreatic and duodenal homeobox 1 ; Symbol:PDX1 ; xref: OMIM:600733 ; xref: UNIPROTKB/SWISSPROT:P52945 ; xref: GENATLAS:PDX1 ; xref: HGNC:6107 ; xref: REACTOME:P52945 ; xref: ENSEMBL:ENSG00000139515] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q45.0 OMIM:260370 Annular pancreas OMIM:167750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 2549 ICD10:Q45.1 Albers-Schönberg osteopetrosis Osteopetrosis autosomal dominant type 2 OMIM:166600 Gene [OrphaNum:119462 ; Name:Chloride channel 7 ; Symbol:CLCN7 ; xref: GENATLAS:CLCN7 ; xref: HGNC:2025 ; xref: OMIM:602727 ; xref: UNIPROTKB/SWISSPROT:P51798 ; xref: ENSEMBL:ENSG00000103249] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 Osteopetrosis autosomal dominant type 2 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 255 ICD10:Q78.2 EXACT Osteopetrosis autosomal dominant type 2 Papillon-Lefevre syndrome Keratosis palmoplantar - periodontopathy OMIM:245000 Gene [OrphaNum:120892 ; Name:Cathepsin C ; Symbol:CTSC ; xref: GENATLAS:CTSC ; xref: HGNC:2528 ; xref: OMIM:602365 ; xref: UNIPROTKB/SWISSPROT:P53634 ; xref: ENSEMBL:ENSG00000109861] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q82.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 Keratosis palmoplantar - periodontopathy Orphanet ID- 2551 EXACT Keratosis palmoplantar - periodontopathy Laryngeal abductor paralysis Familial vocal cord dysfunction Gerhardt syndrome ICD10:J38.0 OMIM:150260 Orphanet ID- 2552 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808 Gerhardt syndrome Familial vocal cord dysfunction prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Gerhardt syndrome EXACT Familial vocal cord dysfunction Familial recurrent peripheral facial palsy Orphanet ID- 2553 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G51.0 OMIM:134200 Parana hard-skin syndrome Hard-skin syndrome, Parana type OMIM:260530 Hard-skin syndrome, Parana type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2554 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812 EXACT Hard-skin syndrome, Parana type Spastic paraparesis - deafness Wells-Jankovic syndrome Orphanet ID- 2556 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; OMIM:312910 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815 Wells-Jankovic syndrome EXACT Wells-Jankovic syndrome Paraplegia - brachydactyly - cone-shaped epiphysis Fitzsimmons-Guilbert syndrome Fitzsimmons-Guilbert syndrome OMIM:270710 ICD10:G82.1 Orphanet ID- 2557 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2823 EXACT Fitzsimmons-Guilbert syndrome Diomedi-Bernardi-Placidi syndrome Spastic paraplegia - epilepsy - intellectual deficit Spastic paraplegia - epilepsy - intellectual deficit Orphanet ID- 2558 OMIM:182610 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2816 EXACT Spastic paraplegia - epilepsy - intellectual deficit Spastic paraplegia - glaucoma - intellectual deficit OMIM:270850 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 Orphanet ID- 2559 Spastic paraplegia - nephritis - deafness Fitzsimmons-Walson-Mellor syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 Orphanet ID- 2561 Fitzsimmons-Walson-Mellor syndrome OMIM:182690 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Fitzsimmons-Walson-Mellor syndrome Autosomal recessive spastic paraplegia type 11 Nakamura-Osame syndrome SPG11 Spastic paraplegia - intellectual deficit - thin corpus callosum Gene [OrphaNum:119807 ; Name:Spastic paraplegia 11 (autosomal recessive) ; Symbol:SPG11 ; xref: GENATLAS:SPG11 ; xref: HGNC:11226 ; xref: OMIM:610844 ; xref: UNIPROTKB/SWISSPROT:Q96JI7 ; xref: ENSEMBL:ENSG00000104133] SPG11 Nakamura-Osame syndrome Spastic paraplegia - intellectual deficit - thin corpus callosum Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 OMIM:604360 ICD10:G11.4 Orphanet ID- 2563 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Nakamura-Osame syndrome EXACT Spastic paraplegia - intellectual deficit - thin corpus callosum EXACT SPG11 PARC syndrome Poikiloderma - alopecia - retrognathism - cleft palate OMIM:600331 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 Orphanet ID- 2564 Poikiloderma - alopecia - retrognathism - cleft palate prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Poikiloderma - alopecia - retrognathism - cleft palate Short tarsus - absence of lower eyelashes Lopes-Gorlin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:600269 Lopes-Gorlin syndrome Orphanet ID- 2569 EXACT Lopes-Gorlin syndrome Partial chromosome Y deletion Male sterility due to chromosome Y deletion OMIM:415000 OMIM:400003 Gene [OrphaNum:121012 ; Name:Deleted in azoospermia 1 ; Symbol:DAZ1 ; xref: GENATLAS:DAZ1 ; xref: HGNC:2682 ; xref: OMIM:400003 ; xref: UNIPROTKB/SWISSPROT:Q9NQZ3 ; xref: ENSEMBL:ENSG00000188120] Gene [OrphaNum:121020 ; Name:Deleted in azoospermia 4 ; Symbol:DAZ4 ; xref: GENATLAS:DAZ4 ; xref: HGNC:15966 ; xref: UNIPROTKB/SWISSPROT:Q86SG3 ; xref: OMIM:400003 ; xref: ENSEMBL:ENSG00000205916] prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 Gene [OrphaNum:120450 ; Name:Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila) ; Symbol:USP9Y ; xref: GENATLAS:USP9Y ; xref: HGNC:12633 ; xref: OMIM:400005 ; xref: UNIPROTKB/SWISSPROT:O00507 ; xref: ENSEMBL:ENSG00000114374] Gene [OrphaNum:168351 ; Name:RNA binding motif protein, Y-linked, family 1, member A1 ; Symbol:RBMY1A1 ; xref: GENATLAS:RBMY1A1 ; xref: HGNC:9912 ; xref: OMIM:400006 ; xref: UNIPROTKB/SWISSPROT:Q15414 ; xref: ENSEMBL:ENSG00000234414] Gene [OrphaNum:121016 ; Name:Deleted in azoospermia 2 ; Symbol:DAZ2 ; xref: GENATLAS:DAZ2 ; xref: HGNC:15964 ; xref: OMIM:400026 ; xref: UNIPROTKB/SWISSPROT:Q13117 ; xref: ENSEMBL:ENSG00000205944] OMIM:400042 ICD10:N46 Orphanet ID- 257 Gene [OrphaNum:167883 ; Name:DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked ; Symbol:DDX3Y ; xref: GENATLAS:DDX3Y ; xref: HGNC:2699 ; xref: OMIM:400010 ; xref: UNIPROTKB/SWISSPROT:O15523 ; xref: ENSEMBL:ENSG00000067048] Gene [OrphaNum:121018 ; Name:Deleted in azoospermia 3 ; Symbol:DAZ3 ; xref: GENATLAS:DAZ3 ; xref: HGNC:15965 ; xref: OMIM:400027 ; xref: UNIPROTKB/SWISSPROT:Q9NR90 ; xref: ENSEMBL:ENSG00000187191] Male sterility due to chromosome Y deletion EXACT Male sterility due to chromosome Y deletion Stiff skin syndrome Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:184900 OMIM:228020 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 Orphanet ID- 2570 Wrinkly skin syndrome Wrinkled skin syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:278250 Orphanet ID- 2571 Gene [OrphaNum:159322 ; Name:ATPase, H+ transporting, lysosomal V0 subunit a2 ; Symbol:ATP6V0A2 ; xref: GENATLAS:ATP6V0A2 ; xref: HGNC:18481 ; xref: OMIM:611716 ; xref: UNIPROTKB/SWISSPROT:Q9Y487 ; xref: ENSEMBL:ENSG00000185344 ; xref: REACTOME:Q9Y487] Wrinkled skin syndrome ICD10:M35.9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 EXACT Wrinkled skin syndrome PEHO syndrome Progressive encephalopathy - optic atrophy Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 Orphanet ID- 2573 OMIM:260565 Progressive encephalopathy - optic atrophy ICD10:G31.8 EXACT Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy EXACT Progressive encephalopathy - optic atrophy Pellagra-like skin rash - neurological manifestations OMIM:260650 ICD10:E72.8 Orphanet ID- 2576 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2837 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Pelvis-shoulder dysplasia Kosenow syndrome Scapuloiliac dysostosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Kosenow syndrome OMIM:169550 ICD10:Q87.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839 Scapuloiliac dysostosis Orphanet ID- 2578 EXACT Scapuloiliac dysostosis EXACT Kosenow syndrome Pelvic dysplasia - arthrogryposis of lower limbs Ray-Peterson-Scott syndrome Ray-Peterson-Scott syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2579 OMIM:602484 EXACT Ray-Peterson-Scott syndrome Penoscrotal transposition ICD10:Q55.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 Orphanet ID- 2580 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive; Pericardial and diaphragmatic defect prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Orphanet ID- 2582 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847 Alopecia-intellectual deficit syndrome Perniola-Krajewska-Carnevale syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:613930 OMIM:610422 OMIM:203650 Perniola-Krajewska-Carnevale syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 Orphanet ID- 2584 ICD10:Q87.8 EXACT Perniola-Krajewska-Carnevale syndrome Fuhrmann syndrome Fibular hypoplasia or aplasia - femoral bowing - oligodactyly Fuhrmann-Rieger-de Sousa syndrome OMIM:228930 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:120543 ; Name:Wingless-type MMTV integration site family, member 7A ; Symbol:WNT7A ; xref: ENSEMBL:ENSG00000154764 ; xref: REACTOME:O00755 ; xref: GENATLAS:WNT7A ; xref: HGNC:12786 ; xref: OMIM:601570 ; xref: UNIPROTKB/SWISSPROT:O00755] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 Orphanet ID- 2588 Fibular hypoplasia or aplasia - femoral bowing - oligodactyly Fuhrmann-Rieger-de Sousa syndrome EXACT Fuhrmann-Rieger-de Sousa syndrome EXACT Fibular hypoplasia or aplasia - femoral bowing - oligodactyly Perrault syndrome XX gonodal dysgenesis - deafness prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 Gene [OrphaNum:122513 ; Name:Hydroxysteroid (17-beta) dehydrogenase 4 ; Symbol:HSD17B4 ; xref: GENATLAS:HSD17B4 ; xref: HGNC:5213 ; xref: OMIM:601860 ; xref: UNIPROTKB/SWISSPROT:P51659 ; xref: ENSEMBL:ENSG00000133835 ; xref: REACTOME:P51659] Orphanet ID- 2589 Gene [OrphaNum:268052 ; Name:histidyl-tRNA synthetase 2, mitochondrial (putative) ; Symbol:HARS2 ; xref: ENSEMBL:ENSG00000112855 ; xref: REACTOME:P49590 ; xref: HGNC:4817 ; xref: OMIM:600783 ; xref: GENATLAS:HARS2 ; xref: UNIPROTKB/SWISSPROT:P49590] OMIM:233400 XX gonodal dysgenesis - deafness ICD10:Q87.8 EXACT XX gonodal dysgenesis - deafness Bartter syndrome Hypokalemic alkalosis - hypercalciuria OMIM:601678 Orphanet ID- 259 Hypokalemic alkalosis - hypercalciuria OMIM:607364 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:602522 ICD10:E26.8 OMIM:241200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112 EXACT Hypokalemic alkalosis - hypercalciuria Peters anomaly Peters congenital glaucoma OMIM:604229 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 Gene [OrphaNum:120052 ; Name:Transforming growth factor, beta 2 ; Symbol:TGFB2 ; xref: GENATLAS:TGFB2 ; xref: HGNC:11768 ; xref: OMIM:190220 ; xref: UNIPROTKB/SWISSPROT:P61812 ; xref: REACTOME:P61812 ; xref: ENSEMBL:ENSG00000092969] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Peters congenital glaucoma Gene [OrphaNum:120977 ; Name:Cytochrome P450, family 1, subfamily B, polypeptide 1 ; Symbol:CYP1B1 ; xref: GENATLAS:CYP1B1 ; xref: HGNC:2597 ; xref: OMIM:601771 ; xref: UNIPROTKB/SWISSPROT:Q16678 ; xref: ENSEMBL:ENSG00000138061 ; xref: REACTOME:Q16678] Gene [OrphaNum:117832 ; Name:Paired-like homeodomain 2 ; Symbol:PITX2 ; xref: GENATLAS:PITX2 ; xref: HGNC:9005 ; xref: OMIM:601542 ; xref: UNIPROTKB/SWISSPROT:Q99697 ; xref: ENSEMBL:ENSG00000164093] Gene [OrphaNum:121883 ; Name:Forkhead box C1 ; Symbol:FOXC1 ; xref: ENSEMBL:ENSG00000054598 ; xref: GENATLAS:FOXC1 ; xref: HGNC:3800 ; xref: OMIM:601090 ; xref: UNIPROTKB/SWISSPROT:Q12948] Orphanet ID- 2590 Gene [OrphaNum:122391 ; Name:Histone deacetylase 9 ; Symbol:HDAC9 ; xref: GENATLAS:HDAC9 ; xref: HGNC:14065 ; xref: OMIM:606543 ; xref: UNIPROTKB/SWISSPROT:Q9UKV0 ; xref: ENSEMBL:ENSG00000048052 ; xref: REACTOME:Q9UKV0] ICD10:Q13.4 Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] EXACT Peters congenital glaucoma Short stature - webbed neck - heart disease Al Gazali-Aziz-Salem syndrome Al Gazali-Aziz-Salem syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865 Orphanet ID- 2598 EXACT Al Gazali-Aziz-Salem syndrome Short stature - deafness - neutrophil dysfunction - dysmorphism Thong-Douglas-Ferrante syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2599 Thong-Douglas-Ferrante syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866 EXACT Thong-Douglas-Ferrante syndrome Sialidosis type 1 Cherry-red-spot-myoclonus syndrome Lipomucopolysaccharidosis Normomorphic sialidosis Gene [OrphaNum:119493 ; Name:Solute carrier family 44, member 4 ; Symbol:SLC44A4 ; xref: ENSEMBL:ENSG00000204385 ; xref: REACTOME:Q53GD3 ; xref: GENATLAS:SLC44A4 ; xref: HGNC:13941 ; xref: OMIM:606107 ; xref: UNIPROTKB/SWISSPROT:Q53GD3] ICD10:E77.1 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Cherry-red-spot-myoclonus syndrome Normomorphic sialidosis Orphanet ID- 26 OMIM:256550 Lipomucopolysaccharidosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 Gene [OrphaNum:123759 ; Name:Sialidase 1 (lysosomal sialidase) ; Symbol:NEU1 ; xref: GENATLAS:NEU1 ; xref: HGNC:7758 ; xref: OMIM:608272 ; xref: UNIPROTKB/SWISSPROT:Q99519 ; xref: REACTOME:Q99519 ; xref: ENSEMBL:ENSG00000204386] EXACT Normomorphic sialidosis EXACT Lipomucopolysaccharidosis EXACT Cherry-red-spot-myoclonus syndrome Beckwith-Wiedemann syndrome BWS Exomphalos - macroglossia - gigantism Wiedemann-Beckwith syndrome Orphanet ID- 260 Exomphalos - macroglossia - gigantism OMIM:130650 BWS Wiedemann-Beckwith syndrome ICD10:Q87.3 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 EXACT Wiedemann-Beckwith syndrome EXACT Exomphalos - macroglossia - gigantism EXACT BWS Short stature, Brussels type Mievis-Verellen Dumoulin syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 2600 Mievis-Verellen Dumoulin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867 OMIM:601350 EXACT Mievis-Verellen Dumoulin syndrome Pfeiffer-Palm-Teller syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871 Orphanet ID- 2602 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:261560 Cardiocranial syndrome, Pfeiffer type Craniosynostosis - congenital heart disease - intellectual deficit Pfeiffer-Singer-Zschiesche syndrome Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Craniosynostosis - congenital heart disease - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis OMIM:218450 Orphanet ID- 2603 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Pfeiffer-Singer-Zschiesche syndrome EXACT Pfeiffer-Singer-Zschiesche syndrome EXACT Craniosynostosis - congenital heart disease - intellectual deficit EXACT Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Phakomatosis pigmentokeratotica prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 Orphanet ID- 2605 ICD10:Q85.8 Phakomatosis pigmentovascularis ICD10:Q85.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 Orphanet ID- 2606 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Phaver syndrome Powell-Chandra-Saal syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:261575 Powell-Chandra-Saal syndrome Orphanet ID- 2607 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876 EXACT Powell-Chandra-Saal syndrome Phocomelia - ectrodactyly - deafness - sinus arrhythmia Stoll-Levy-Francfort syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2609 OMIM:171480 Stoll-Levy-Francfort syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2878 EXACT Stoll-Levy-Francfort syndrome Apert syndrome ACS 1 Acrocephalosyndactyly type 1 ACS 1 Gene [OrphaNum:132262 ; Name:Fibroblast growth factor receptor 2 ; Symbol:FGFR2 ; xref: ENSEMBL:ENSG00000066468 ; xref: REACTOME:P21802 ; xref: GENATLAS:FGFR2 ; xref: HGNC:3689 ; xref: OMIM:176943 ; xref: UNIPROTKB/SWISSPROT:P21802] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 Orphanet ID- 261 Acrocephalosyndactyly type 1 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:101200 ICD10:Q87.0 EXACT ACS 1 EXACT Acrocephalosyndactyly type 1 Phocomelia, Schinzel type Absence of ulna and fibula Al-Awadi-Raas-Rothschild syndrome Aplasia/hypoplasia of limbs and pelvis Severe limb deficit Gene [OrphaNum:120543 ; Name:Wingless-type MMTV integration site family, member 7A ; Symbol:WNT7A ; xref: ENSEMBL:ENSG00000154764 ; xref: REACTOME:O00755 ; xref: GENATLAS:WNT7A ; xref: HGNC:12786 ; xref: OMIM:601570 ; xref: UNIPROTKB/SWISSPROT:O00755] Absence of ulna and fibula OMIM:276820 Orphanet ID- 2610 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 Severe limb deficit Al-Awadi-Raas-Rothschild syndrome ICD10:Q87.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Aplasia/hypoplasia of limbs and pelvis EXACT Absence of ulna and fibula EXACT Al-Awadi-Raas-Rothschild syndrome EXACT Aplasia/hypoplasia of limbs and pelvis EXACT Severe limb deficit Piebaldism Gene [OrphaNum:122862 ; Name:V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog ; Symbol:KIT ; xref: GENATLAS:KIT ; xref: HGNC:6342 ; xref: OMIM:164920 ; xref: UNIPROTKB/SWISSPROT:P10721 ; xref: REACTOME:P10721 ; xref: ENSEMBL:ENSG00000157404] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 Gene [OrphaNum:119757 ; Name:Snail homolog 2 (Drosophila) ; Symbol:SNAI2 ; xref: GENATLAS:SNAI2 ; xref: HGNC:11094 ; xref: OMIM:602150 ; xref: UNIPROTKB/SWISSPROT:O43623 ; xref: ENSEMBL:ENSG00000019549] ICD10:L81.6 OMIM:172800 Orphanet ID- 2612 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Piebald trait - neurologic defects Telfer-Sugar-Jaeger syndrome OMIM:172850 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telfer-Sugar-Jaeger syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 Orphanet ID- 2613 EXACT Telfer-Sugar-Jaeger syndrome TARP syndrome Pierre Robin sequence - congenital heart defect - talipes Pierre Robin syndrome - congenital heart defect - talipes Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 OMIM:311900 Pierre Robin syndrome - congenital heart defect - talipes Orphanet ID- 2614 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:233025 ; Name:RNA binding motif protein 10 ; Symbol:RBM10 ; xref: ENSEMBL:ENSG00000182872 ; xref: HGNC:9896 ; xref: GENATLAS:RBM10 ; xref: UNIPROTKB/SWISSPROT:P98175 ; xref: OMIM:300080] ICD10:Q87.8 Pierre Robin sequence - congenital heart defect - talipes Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava EXACT Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava EXACT Pierre Robin sequence - congenital heart defect - talipes EXACT Pierre Robin syndrome - congenital heart defect - talipes Pierre Robin syndrome - faciodigital anomaly Chitayat-Meunier-Hodgkinson syndrome Pierre Robin sequence - faciodigital anomaly Pierre Robin sequence - faciodigital anomaly Orphanet ID- 2616 OMIM:311895 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888 Chitayat-Meunier-Hodgkinson syndrome EXACT Chitayat-Meunier-Hodgkinson syndrome EXACT Pierre Robin sequence - faciodigital anomaly Pili torti - onychodysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890 Orphanet ID- 2617 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Pili torti Twisted hair ICD10:Q84.1 OMIM:261900 Twisted hair prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2618 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889 EXACT Twisted hair Pili torti - developmental delay - neurological abnormalities prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:261990 Orphanet ID- 2619 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891 Pilodental dysplasia - refractive errors Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:262020 Orphanet ID- 2620 EXACT Kopysc-Barczyk-Krol syndrome EXACT Euhidrotic ectodermal dysplasia Pilotto syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2622 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2894 Pitt-Hopkins syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2624 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 Gene [OrphaNum:158595 ; Name:Transcription factor 4 ; Symbol:TCF4 ; xref: REACTOME:P15884 ; xref: GENATLAS:TCF4 ; xref: HGNC:11634 ; xref: OMIM:602272 ; xref: UNIPROTKB/SWISSPROT:P15884 ; xref: ENSEMBL:ENSG00000196628] OMIM:610954 Platyspondyly - amelogenesis imperfecta Verloes-Bourguignon syndrome Verloes-Bourguignon syndrome ICD10:Q76.4 Orphanet ID- 2625 ICD10:K00.5 OMIM:601216 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Verloes-Bourguignon syndrome Leri pleonosteosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900 Orphanet ID- 2626 OMIM:151200 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.8 Hereditary acrokeratotic poikiloderma, Weary type Congenital poikiloderma with bullae, Weary type ICD10:L90.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:159172 ; Name:Fermitin family homolog 1 (Drosophila) ; Symbol:FERMT1 ; xref: GENATLAS:FERMT1 ; xref: HGNC:15889 ; xref: OMIM:607900 ; xref: UNIPROTKB/SWISSPROT:Q9BQL6 ; xref: ENSEMBL:ENSG00000101311] Orphanet ID- 2629 OMIM:173650 Congenital poikiloderma with bullae, Weary type EXACT Congenital poikiloderma with bullae, Weary type Autosomal dominant cerebellar ataxia Orphanet ID- 263 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 Poland syndrome Poland anomaly Poland sequence prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Poland anomaly Poland sequence Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 OMIM:173800 Orphanet ID- 2630 ICD10:Q79.8 EXACT Poland anomaly EXACT Poland sequence Polydactyly postaxial - dental and vertebral anomalies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2634 OMIM:263540 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916 Polydactyly-myopia syndrome Czeizel-Brooser syndrome Czeizel-Brooser syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917 Orphanet ID- 2635 OMIM:174310 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; EXACT Czeizel-Brooser syndrome Postaxial polydactyly prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q69 Orphanet ID- 2636 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2918 Oral-facial-digital syndrome type 5 OFD5 Orofaciodigital syndrome type 5 Orofaciodigital syndrome, Thurston type Polydactyly postaxial with median cleft of upper lip Thurston syndrome OFD5 Orofaciodigital syndrome type 5 Polydactyly postaxial with median cleft of upper lip OMIM:174300 Orofaciodigital syndrome, Thurston type Orphanet ID- 2637 ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Thurston syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 EXACT Orofaciodigital syndrome type 5 EXACT Orofaciodigital syndrome, Thurston type EXACT OFD5 EXACT Polydactyly postaxial with median cleft of upper lip EXACT Thurston syndrome Oliver syndrome Postaxial polydactyly - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 OMIM:258200 Orphanet ID- 2638 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Postaxial polydactyly - intellectual deficit EXACT Postaxial polydactyly - intellectual deficit Preaxial polydactyly - colobomata - intellectual deficit Pfeiffer-Mayer syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Pfeiffer-Mayer syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921 Orphanet ID- 2639 EXACT Pfeiffer-Mayer syndrome Familial paroxysmal ataxia Episodic ataxia type 2 ICD10:G11.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 Gene [OrphaNum:119129 ; Name:Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ; Symbol:CACNA1A ; xref: GENATLAS:CACNA1A ; xref: HGNC:1388 ; xref: OMIM:601011 ; xref: UNIPROTKB/SWISSPROT:O00555 ; xref: IUPHAR:532 ; xref: ENSEMBL:ENSG00000141837 ; xref: REACTOME:O00555] Episodic ataxia type 2 Orphanet ID- 264 OMIM:108500 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Episodic ataxia type 2 Preaxial polydactyly Thumb polydactyly Thumb polydactyly Orphanet ID- 2640 ICD10:Q69.1 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2922 EXACT Thumb polydactyly Polycystic liver disease Orphanet ID- 2641 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 Gene [OrphaNum:118567 ; Name:SEC63 homolog (S. cerevisiae) ; Symbol:SEC63 ; xref: GENATLAS:SEC63 ; xref: HGNC:21082 ; xref: OMIM:608648 ; xref: UNIPROTKB/SWISSPROT:Q9UGP8 ; xref: ENSEMBL:ENSG00000025796] Gene [OrphaNum:118020 ; Name:Protein kinase C substrate 80K-H ; Symbol:PRKCSH ; xref: GENATLAS:PRKCSH ; xref: HGNC:9411 ; xref: OMIM:177060 ; xref: UNIPROTKB/SWISSPROT:P14314 ; xref: ENSEMBL:ENSG00000130175 ; xref: REACTOME:P14314] ICD10:Q44.6 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:174050 Polymicrogyria - turricephaly - hypogenitalism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2925 Orphanet ID- 2642 Polyneuropathy - intellectual deficit - acromicria - premature menopause Lundberg syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2645 Lundberg syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928 EXACT Lundberg syndrome Cronkhite-Canada syndrome Gastrointestinal polyposis - ectodermal changes Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes OMIM:175500 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 Orphanet ID- 2646 Gastrointestinal polyposis - ectodermal changes EXACT Gastrointestinal polyposis - ectodermal changes EXACT Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes Polysyndactyly - cardiac malformation Bonneau syndrome OMIM:263630 Bonneau syndrome Orphanet ID- 2648 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Bonneau syndrome Crossed polysyndactyly Crossed polydactyly ICD10:Q70.4 Orphanet ID- 2649 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935 Crossed polydactyly OMIM:175690 EXACT Crossed polydactyly Lamellar ichthyosis Classic lamellar ichthyosis Congenital lamellar ichthyosis LI OMIM:601277 Gene [OrphaNum:160003 ; Name:Cytochrome P450, family 4, subfamily F, polypeptide 22 ; Symbol:CYP4F22 ; xref: GENATLAS:CYP4F22 ; xref: HGNC:26820 ; xref: OMIM:611495 ; xref: UNIPROTKB/SWISSPROT:Q6NT55 ; xref: ENSEMBL:ENSG00000171954] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 Orphanet ID- 265 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:606545 Gene [OrphaNum:264501 ; Name:lipase, family member N ; Symbol:LIPN ; xref: ENSEMBL:ENSG00000204020 ; xref: GENATLAS:LIPN ; xref: HGNC:23452 ; xref: OMIM:613924 ; xref: UNIPROTKB/SWISSPROT:Q5VXI9] Gene [OrphaNum:120076 ; Name:Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) ; Symbol:TGM1 ; xref: GENATLAS:TGM1 ; xref: HGNC:11777 ; xref: OMIM:190195 ; xref: UNIPROTKB/SWISSPROT:P22735 ; xref: ENSEMBL:ENSG00000092295] OMIM:612281 Classic lamellar ichthyosis OMIM:242300 Gene [OrphaNum:117620 ; Name:ATP-binding cassette, sub-family A (ABC1), member 12 ; Symbol:ABCA12 ; xref: GENATLAS:ABCA12 ; xref: HGNC:14637 ; xref: OMIM:607800 ; xref: UNIPROTKB/SWISSPROT:Q86UK0 ; xref: REACTOME:Q86UK0 ; xref: ENSEMBL:ENSG00000144452] LI Gene [OrphaNum:119635 ; Name:Arachidonate 12-lipoxygenase, 12R type ; Symbol:ALOX12B ; xref: GENATLAS:ALOX12B ; xref: HGNC:430 ; xref: OMIM:603741 ; xref: UNIPROTKB/SWISSPROT:O75342 ; xref: ENSEMBL:ENSG00000179477] OMIM:613943 OMIM:146750 Gene [OrphaNum:223546 ; Name:NIPA-like domain containing 4 ; Symbol:NIPAL4 ; xref: HGNC:28018 ; xref: OMIM:609383 ; xref: UNIPROTKB/SWISSPROT:Q0D2K0 ; xref: ENSEMBL:ENSG00000172548 ; xref: GENATLAS:ICHTHYIN] Congenital lamellar ichthyosis ICD10:Q80.2 OMIM:604777 EXACT LI EXACT Classic lamellar ichthyosis EXACT Congenital lamellar ichthyosis Porencephaly Gene [OrphaNum:120716 ; Name:Collagen, type IV, alpha 1 ; Symbol:COL4A1 ; xref: GENATLAS:COL4A1 ; xref: HGNC:2202 ; xref: OMIM:120130 ; xref: UNIPROTKB/SWISSPROT:P02462 ; xref: ENSEMBL:ENSG00000187498 ; xref: REACTOME:P02462] Gene [OrphaNum:291813 ; Name:Collagen, type IV, alpha 2 ; Symbol:COL4A2 ; xref: HGNC:2203 ; xref: OMIM:120090 ; xref: UNIPROTKB/SWISSPROT:P08572 ; xref: GENATLAS:COL4A2 ; xref: ENSEMBL:ENSG00000134871] OMIM:614483 OMIM:175780 ICD10:Q04.6 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 2654 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 Bilateral renal agenesis OMIM:191830 Orphanet ID- 2656 ICD10:Q60.1 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant; Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] Gene [OrphaNum:268073 ; Name:uroplakin 3A ; Symbol:UPK3A ; xref: ENSEMBL:ENSG00000100373 ; xref: HGNC:12580 ; xref: OMIM:611559 ; xref: GENATLAS:UPK3A ; xref: UNIPROTKB/SWISSPROT:O75631] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 Thumb absence - hypoplastic halluces Miura syndrome Miura syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2657 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2944 EXACT Miura syndrome Brachydactyly - long thumb ICD10:Q87.2 Orphanet ID- 2659 OMIM:112430 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 Triphalangeal thumbs - brachyectrodactyly Carnevale-Hernandez-del Castillo syndrome OMIM:190680 Carnevale-Hernandez-del Castillo syndrome ICD10:Q68.1 ICD10:Q74.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947 Orphanet ID- 2660 EXACT Carnevale-Hernandez-del Castillo syndrome Familial triphalangeal thumbs - big toes duplication Merlob-Grunebaum-Reisner syndrome ICD10:Q74.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2948 ICD10:Q69.2 Orphanet ID- 2661 Merlob-Grunebaum-Reisner syndrome EXACT Merlob-Grunebaum-Reisner syndrome Triphalangeal thumb - polysyndactyly syndrome TPT-PS syndrome ICD10:Q70.4 Gene [OrphaNum:123085 ; Name:Limb region 1 homolog (mouse) ; Symbol:LMBR1 ; xref: ENSEMBL:ENSG00000105983 ; xref: GENATLAS:LMBR1 ; xref: HGNC:13243 ; xref: OMIM:605522 ; xref: UNIPROTKB/SWISSPROT:Q8WVP7] Orphanet ID- 2662 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:174500 ICD10:Q74.0 TPT-PS syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2950 EXACT TPT-PS syndrome Absent thumb - short stature - immunodeficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2951 OMIM:274190 Orphanet ID- 2663 Adducted thumbs - arthrogryposis, Christian type ICD10:Q74.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2664 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 OMIM:201550 Intellectual deficit - short broad thumbs Meinecke syndrome Meinecke syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2954 Orphanet ID- 2665 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Meinecke syndrome Prata-Liberal-Goncalves syndrome Acrodysplasia scoliosis Brachydactyly - scoliosis - carpal fusion Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 Brachydactyly - scoliosis - carpal fusion prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Acrodysplasia scoliosis Orphanet ID- 2667 EXACT Brachydactyly - scoliosis - carpal fusion EXACT Acrodysplasia scoliosis Guttmacher syndrome Preaxial deficiency - postaxial polydactyly - hypospadias OMIM:176305 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 Gene [OrphaNum:122462 ; Name:Homeobox A13 ; Symbol:HOXA13 ; xref: GENATLAS:HOXA13 ; xref: HGNC:5102 ; xref: OMIM:142959 ; xref: UNIPROTKB/SWISSPROT:P31271 ; xref: ENSEMBL:ENSG00000106031] Preaxial deficiency - postaxial polydactyly - hypospadias Orphanet ID- 2668 EXACT Preaxial deficiency - postaxial polydactyly - hypospadias Intellectual deficit, X-linked - dysmorphism - cerebral atrophy Prieto-Badia-Mulas syndrome Orphanet ID- 2669 Prieto-Badia-Mulas syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:309610 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958 EXACT Prieto-Badia-Mulas syndrome Hutchinson-Gilford progeria syndrome Progeria Gene [OrphaNum:120620 ; Name:Zinc metallopeptidase (STE24 homolog, S. cerevisiae) ; Symbol:ZMPSTE24 ; xref: GENATLAS:ZMPSTE24 ; xref: HGNC:12877 ; xref: OMIM:606480 ; xref: UNIPROTKB/SWISSPROT:O75844 ; xref: ENSEMBL:ENSG00000084073] Orphanet ID- 2670 OMIM:176670 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] ICD10:E34.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Progeria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 EXACT Progeria Progeria - short stature - pigmented nevi Mulvihill-Smith syndrome OMIM:176690 Orphanet ID- 2671 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Mulvihill-Smith syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 EXACT Mulvihill-Smith syndrome De Barsy syndrome Cutis laxa - corneal clouding - intellectual deficit Progeroid syndrome, De Barsy type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Progeroid syndrome, De Barsy type Orphanet ID- 2673 ICD10:Q87.8 Cutis laxa - corneal clouding - intellectual deficit EXACT Progeroid syndrome, De Barsy type EXACT Cutis laxa - corneal clouding - intellectual deficit Autosomal dominant prognathism prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:176700 ICD10:K07.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964 Orphanet ID- 2674 Proteus-like syndrome - intellectual deficit - eye defects Cohen-Hayden syndrome Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] Cohen-Hayden syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 Orphanet ID- 2675 OMIM:158350 EXACT Cohen-Hayden syndrome Pseudoachondroplasia Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia ICD10:Q77.8 Gene [OrphaNum:120763 ; Name:Cartilage oligomeric matrix protein ; Symbol:COMP ; xref: GENATLAS:COMP ; xref: HGNC:2227 ; xref: OMIM:600310 ; xref: UNIPROTKB/SWISSPROT:P49747 ; xref: ENSEMBL:ENSG00000105664] Pseudoachondroplastic dysplasia prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 2676 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 OMIM:177170 EXACT Pseudoachondroplastic spondyloepiphyseal dysplasia EXACT Pseudoachondroplastic dysplasia Noneruption of teeth - maxillary hypoplasia - genu valgum Stoelinga-de Koomen-Davis syndrome Stoelinga-de Koomen-Davis syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972 Orphanet ID- 2678 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:273050 EXACT Stoelinga-de Koomen-Davis syndrome 46,XX disorder of sex development - anorectal anomalies Female pseudohermaphrodism - anorectal anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 Orphanet ID- 2679 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Female pseudohermaphrodism - anorectal anomalies EXACT Female pseudohermaphrodism - anorectal anomalies 46,XX disorder of sex development - skeletal anomalies Female pseudohermaphroditism - skeletal anomalies Female pseudohermaphroditism - skeletal anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 OMIM:264270 Orphanet ID- 2681 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; EXACT Female pseudohermaphroditism - skeletal anomalies Pseudoleprechaunism syndrome, Patterson type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:169170 Orphanet ID- 2682 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976 Chronic intestinal pseudo-obstruction CIPO CIPO OMIM:243180 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 OMIM:609629 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; OMIM:601223 Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] Orphanet ID- 2684 OMIM:300048 EXACT CIPO Acro-oto-ocular syndrome Pseudopapilledema - blepharophimosis - hand anomalies prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980 OMIM:264475 Pseudopapilledema - blepharophimosis - hand anomalies Orphanet ID- 2686 EXACT Pseudopapilledema - blepharophimosis - hand anomalies Pseudoprogeria syndrome Eyebrows and eyelashes absence - intellectual deficit Hal-Berg-Rudolph syndrome Hal-Berg-Rudolph syndrome OMIM:200130 Eyebrows and eyelashes absence - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 Orphanet ID- 2688 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; EXACT Hal-Berg-Rudolph syndrome EXACT Eyebrows and eyelashes absence - intellectual deficit Antecubital pterygium syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 2689 OMIM:178200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987 Pterygium colli - intellectual deficit - digital anomalies Khalifa-Graham syndrome OMIM:600159 Orphanet ID- 2690 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant; Khalifa-Graham syndrome EXACT Khalifa-Graham syndrome Pterygium of the conjunctiva, familial form Orphanet ID- 2691 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2989 OMIM:178000 Autosomal recessive multiple pterygium syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 ICD10:Q87.0 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2692 Ptosis - vocal cord paralysis Tucker syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:193240 Tucker syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997 Orphanet ID- 2697 EXACT Tucker syndrome Ptosis - strabismus - ectopic pupils McPherson-Hall syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 McPherson-Hall syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:178330 Orphanet ID- 2699 EXACT McPherson-Hall syndrome Mucolipidosis type 2 I-cell disease N-acetyl-glucosamine 1-phosphotransferase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 N-acetyl-glucosamine 1-phosphotransferase deficiency Gene [OrphaNum:122216 ; Name:N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ; Symbol:GNPTAB ; xref: GENATLAS:GNPTAB ; xref: HGNC:29670 ; xref: OMIM:607840 ; xref: UNIPROTKB/SWISSPROT:Q3T906 ; xref: ENSEMBL:ENSG00000111670] Orphanet ID- 27 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; I-cell disease OMIM:252500 ICD10:E77.0 EXACT N-acetyl-glucosamine 1-phosphotransferase deficiency EXACT I-cell disease Pyknoachondrogenesis Camera's syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003 Camera's syndrome OMIM:265880 Orphanet ID- 2701 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; EXACT Camera's syndrome Mirror polydactyly - vertebral segmentation - limbs defects Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 2702 Pyle disease Metaphyseal dysplasia, Pyle type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:265900 ICD10:Q78.5 Metaphyseal dysplasia, Pyle type Orphanet ID- 2703 EXACT Metaphyseal dysplasia, Pyle type Qazi-Markouizos syndrome Dysharmonic skeletal maturation - muscular fibre disproportion prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 OMIM:600096 Orphanet ID- 2705 Dysharmonic skeletal maturation - muscular fibre disproportion EXACT Dysharmonic skeletal maturation - muscular fibre disproportion Spastic quadriplegia - retinitis pigmentosa - intellectual deficit Orphanet ID- 2706 OMIM:270950 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 Rabson-Mendenhall syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E13 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 OMIM:262190 Gene [OrphaNum:122664 ; Name:Insulin receptor ; Symbol:INSR ; xref: GENATLAS:INSR ; xref: HGNC:6091 ; xref: OMIM:147670 ; xref: UNIPROTKB/SWISSPROT:P06213 ; xref: ENSEMBL:ENSG00000171105 ; xref: REACTOME:P06213] Orphanet ID- 2707 Lethal osteosclerotic bone dysplasia Raine syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:138509 ; Name:Family with sequence similarity 20, member C ; Symbol:FAM20C ; xref: GENATLAS:FAM20C ; xref: HGNC:22140 ; xref: OMIM:611061 ; xref: UNIPROTKB/SWISSPROT:Q8IXL6 ; xref: ENSEMBL:ENSG00000177706] Orphanet ID- 2713 Raine syndrome OMIM:259775 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 EXACT Raine syndrome Ramon syndrome Cherubism - gingival fibromatosis - intellectual deficit prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2715 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 OMIM:266270 Cherubism - gingival fibromatosis - intellectual deficit EXACT Cherubism - gingival fibromatosis - intellectual deficit RAPADILINO syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 Orphanet ID- 2716 OMIM:266280 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.1 Gene [OrphaNum:118257 ; Name:RecQ protein-like 4 ; Symbol:RECQL4 ; xref: GENATLAS:RECQL4 ; xref: HGNC:9949 ; xref: OMIM:603780 ; xref: UNIPROTKB/SWISSPROT:O94761 ; xref: ENSEMBL:ENSG00000160957] Rapp-Hodgkin syndrome Anhidrotic ectodermic dysplasia - cleft lip/palate Ectodermal dysplasia syndrome, Rapp-Hodgkin type Ectodermal dysplasia, Rapp-Hodgkin type RHS Ectodermal dysplasia, Rapp-Hodgkin type Ectodermal dysplasia syndrome, Rapp-Hodgkin type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3022 Gene [OrphaNum:120207 ; Name:Tumor Protein p63 ; Symbol:TP63 ; xref: OMIM:603273 ; xref: UNIPROTKB/SWISSPROT:Q9H3D4 ; xref: GENATLAS:TP63 ; xref: HGNC:15979 ; xref: ENSEMBL:ENSG00000073282] RHS Anhidrotic ectodermic dysplasia - cleft lip/palate OMIM:129400 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2717 EXACT Ectodermal dysplasia syndrome, Rapp-Hodgkin type EXACT Ectodermal dysplasia, Rapp-Hodgkin type EXACT RHS EXACT Anhidrotic ectodermic dysplasia - cleft lip/palate Radial ray hypoplasia - choanal atresia Goldblatt-Viljoen syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 Orphanet ID- 2720 OMIM:179270 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Goldblatt-Viljoen syndrome EXACT Goldblatt-Viljoen syndrome NPHP3-related Meckel-like syndrome Goldston syndrome Meckel syndrome type 7 Meckel-like syndrome type 1 Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts Meckel syndrome type 7 OMIM:267010 Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 Meckel-like syndrome type 1 Gene [OrphaNum:123878 ; Name:Nephronophthisis 3 (adolescent) ; Symbol:NPHP3 ; xref: GENATLAS:NPHP3 ; xref: HGNC:7907 ; xref: OMIM:608002 ; xref: UNIPROTKB/SWISSPROT:Q7Z494 ; xref: ENSEMBL:ENSG00000113971] Goldston syndrome Orphanet ID- 2725 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Meckel syndrome type 7 EXACT Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts EXACT Meckel-like syndrome type 1 EXACT Goldston syndrome Renal tubular dysgenesis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q63.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033 Orphanet ID- 2726 Intellectual deficit - unusual facies - talipes - hand anomalies David syndrome Orphanet ID- 2727 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3045 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; David syndrome EXACT David syndrome Delayed membranous cranial ossification Gonzales-del Angel syndrome OMIM:155980 ICD10:Q75.8 Gonzales-del Angel syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034 Orphanet ID- 2728 EXACT Gonzales-del Angel syndrome Growth delay - hydrocephaly - lung hypoplasia Game-Friedman-Paradice syndrome OMIM:236640 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Game-Friedman-Paradice syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035 Orphanet ID- 2729 EXACT Game-Friedman-Paradice syndrome Delayed speech - facial asymmetry - strabismus - ear lobe creases Mehes syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 Mehes syndrome Orphanet ID- 2732 OMIM:182875 EXACT Mehes syndrome Intellectual deficit - balding - patella luxation - acromicria Scholte-Begeer-van Essen syndrome Orphanet ID- 2734 ICD10:Q87.5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Scholte-Begeer-van Essen syndrome OMIM:181515 EXACT Scholte-Begeer-van Essen syndrome Intellectual deficit - cataracts - calcified pinnae - myopathy Primerose syndrome Orphanet ID- 2735 OMIM:259050 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Primerose syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 EXACT Primerose syndrome Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus Orphanet ID- 2737 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 OMIM:249599 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Blepharophimosis-intellectual deficit syndrome, SBBYS type Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 Gene [OrphaNum:285156 ; Name:K(lysine) Acetyltransferase 6B ; Symbol:KAT6B ; xref: HGNC:17582 ; xref: OMIM:605880 ; xref: UNIPROTKB/SWISSPROT:Q8WYB5 ; xref: ENSEMBL:ENSG00000156650 ; xref: GENATLAS:KAT6B] OMIM:603736 Orphanet ID- 2739 EXACT Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit Intellectual deficit - hypotonia - skin hyperpigmentation Medrano-Roldan syndrome Medrano-Roldan syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2740 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3050 EXACT Medrano-Roldan syndrome Intellectual deficit, X-linked - seizures - psoriasis Tranebjaerg-Svejgaard syndrome Orphanet ID- 2741 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:309480 Tranebjaerg-Svejgaard syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 EXACT Tranebjaerg-Svejgaard syndrome Intellectual deficit, X-linked, Martinez type Orphanet ID- 2744 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=775 Intellectual deficit, X-linked - short stature - obesity Young-Hugues syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 Orphanet ID- 2745 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Young-Hugues syndrome EXACT Young-Hugues syndrome Intellectual deficit, X-linked, Brooks type OMIM:300612 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3056 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 2746 Monoamine oxidase-A deficiency Orphanet ID- 2747 OMIM:300615 ICD10:F54 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 Gene [OrphaNum:123133 ; Name:Monoamine oxidase A ; Symbol:MAOA ; xref: GENATLAS:MAOA ; xref: HGNC:6833 ; xref: OMIM:309850 ; xref: UNIPROTKB/SWISSPROT:P21397 ; xref: ENSEMBL:ENSG00000189221 ; xref: REACTOME:P21397] ICD10:E70.8 Intellectual deficit, X-linked, Gu type MRX35 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3059 Orphanet ID- 2748 MRX35 EXACT MRX35 X-linked lymphoproliferative disease Duncan disease Purtilo syndrome XLP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2442 XLP prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:300635 ICD10:D82.3 Gene [OrphaNum:138732 ; Name:X-linked inhibitor of apoptosis ; Symbol:XIAP ; xref: GENATLAS:XIAP ; xref: HGNC:592 ; xref: OMIM:300079 ; xref: UNIPROTKB/SWISSPROT:P98170 ; xref: ENSEMBL:ENSG00000101966 ; xref: REACTOME:P98170] Orphanet ID- 275 Duncan disease Purtilo syndrome OMIM:308240 Gene [OrphaNum:118679 ; Name:SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) ; Symbol:SH2D1A ; xref: GENATLAS:SH2D1A ; xref: HGNC:10820 ; xref: OMIM:300490 ; xref: UNIPROTKB/SWISSPROT:O60880 ; xref: ENSEMBL:ENSG00000183918] EXACT Purtilo syndrome EXACT Duncan disease EXACT XLP Intellectual deficit, X-linked, Raynaud type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 2750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3061 Intellectual deficit, X-linked, Schutz type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3062 Orphanet ID- 2751 Intellectual deficit, X-linked, Snyder type Snyder-Robinson syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:309583 Snyder-Robinson syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 Orphanet ID- 2752 Gene [OrphaNum:138543 ; Name:Spermine synthase ; Symbol:SMS ; xref: GENATLAS:SMS ; xref: HGNC:11123 ; xref: OMIM:300105 ; xref: UNIPROTKB/SWISSPROT:P52788 ; xref: ENSEMBL:ENSG00000102172 ; xref: REACTOME:P52788] EXACT Snyder-Robinson syndrome Intellectual deficit, X-linked, Wittner type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3064 Orphanet ID- 2753 Intellectual deficit - microcephaly - phalangeal - facial abnormalities Orphanet ID- 2756 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3067 Intellectual deficit - myopathy - short stature - endocrine defect Chudley-Rozdilsky syndrome OMIM:253320 Orphanet ID- 2757 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 Chudley-Rozdilsky syndrome EXACT Chudley-Rozdilsky syndrome Intellectual deficit, X-linked - psychosis - macroorchidism Lindsay-Burn syndrome PPM-X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 OMIM:300055 Lindsay-Burn syndrome ICD10:F71.1 Orphanet ID- 2764 PPM-X prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; Gene [OrphaNum:123186 ; Name:Methyl CpG binding protein 2 (Rett syndrome) ; Symbol:MECP2 ; xref: GENATLAS:MECP2 ; xref: HGNC:6990 ; xref: OMIM:300005 ; xref: UNIPROTKB/SWISSPROT:P51608 ; xref: ENSEMBL:ENSG00000169057] EXACT Lindsay-Burn syndrome EXACT PPM-X Severe X-linked intellectual deficit, Gustavson type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:F79 OMIM:309555 Orphanet ID- 2765 Intellectual deficit, Buenos-Aires type Mutchinick syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:F78 Orphanet ID- 2766 Mutchinick syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079 OMIM:249630 EXACT Mutchinick syndrome Intellectual deficit, Wolff type Wolff-Zimmermann syndrome Orphanet ID- 2767 Wolff-Zimmermann syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:F78 OMIM:277990 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080 EXACT Wolff-Zimmermann syndrome Autosomal dominant vitreoretinochoroidopathy ADVIRC Gene [OrphaNum:119029 ; Name:Bestrophin 1 ; Symbol:BEST1 ; xref: OMIM:607854 ; xref: UNIPROTKB/SWISSPROT:O76090 ; xref: GENATLAS:BEST1 ; xref: HGNC:12703 ; xref: ENSEMBL:ENSG00000167995] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 Orphanet ID- 2769 ADVIRC OMIM:193220 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT ADVIRC Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Orphanet ID- 277 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Retinohepatoendocrinologic syndrome OMIM:268040 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3087 Orphanet ID- 2770 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Unknown; Congenital pulmonary venous return anomaly Congenital pulmonary venous connection anomaly prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2772 Congenital pulmonary venous connection anomaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 OMIM:106700 ICD10:Q26.3 ICD10:Q26.4 ICD10:Q26.2 EXACT Congenital pulmonary venous connection anomaly Meacham syndrome Meacham-Winn-Culler syndrome Rhabdomyomatous dysplasia - cardiopathy - genital anomalies OMIM:608978 Meacham-Winn-Culler syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] Rhabdomyomatous dysplasia - cardiopathy - genital anomalies Orphanet ID- 2773 EXACT Meacham-Winn-Culler syndrome EXACT Rhabdomyomatous dysplasia - cardiopathy - genital anomalies Rhizomelic syndrome OMIM:268250 ICD10:Q87.1 Orphanet ID- 2774 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Richieri Costa-da Silva syndrome Myotonia - intellectual deficit - skeletal anomalies Myotonia - intellectual deficit - skeletal anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 Orphanet ID- 2776 OMIM:255710 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Myotonia - intellectual deficit - skeletal anomalies Richieri Costa-Pereira syndrome Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot OMIM:268305 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot Orphanet ID- 2777 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot EXACT Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot EXACT Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot Robin sequence - oligodactyly Pierre Robin sequence - oligodactyly Orphanet ID- 2778 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104 Pierre Robin sequence - oligodactyly OMIM:172880 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Pierre Robin sequence - oligodactyly Robinow-like syndrome Saal-Greenstein syndrome Saal-Greenstein syndrome Orphanet ID- 2779 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3105 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Saal-Greenstein syndrome Menkes disease Kinky hair disease Kinky hair syndrome MD MK MNK Menkes syndrome Steely hair disease Steely hair syndrome Trichopoliodystrophy X-linked copper deficiency MK X-linked copper deficiency ICD10:E83.0 MD OMIM:309400 Kinky hair disease Trichopoliodystrophy Orphanet ID- 278 Gene [OrphaNum:118879 ; Name:ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) ; Symbol:ATP7A ; xref: GENATLAS:ATP7A ; xref: HGNC:869 ; xref: OMIM:300011 ; xref: UNIPROTKB/SWISSPROT:Q04656 ; xref: ENSEMBL:ENSG00000165240 ; xref: REACTOME:Q04656] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 Steely hair disease Steely hair syndrome Kinky hair syndrome Menkes syndrome MNK EXACT Kinky hair disease EXACT Trichopoliodystrophy EXACT MNK EXACT X-linked copper deficiency EXACT Kinky hair syndrome EXACT Menkes syndrome EXACT MK EXACT MD EXACT Steely hair disease EXACT Steely hair syndrome Robinow-Sorauf syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3106 OMIM:180750 ICD10:Q87.0 Orphanet ID- 2780 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal dominant Robinow syndrome DRS DRS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 Orphanet ID- 2781 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.1 Gene [OrphaNum:231387 ; Name:Wingless-type MMTV integration site family, member 5A ; Symbol:WNT5A ; xref: ENSEMBL:ENSG00000114251 ; xref: GENATLAS:WNT5A ; xref: HGNC:12784 ; xref: OMIM:164975 ; xref: UNIPROTKB/SWISSPROT:P41221 ; xref: REACTOME:P41221] OMIM:180700 EXACT DRS Mayer-Rokitansky-Küster-Hauser syndrome MRKH syndrome Rokitansky syndrome ICD10:Q51.8 OMIM:277000 Orphanet ID- 2783 MRKH syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 Rokitansky syndrome OMIM:158330 OMIM:601076 EXACT Rokitansky syndrome EXACT MRKH syndrome Rombo syndrome Orphanet ID- 2784 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; OMIM:180730 Rothmund-Thomson syndrome Poikiloderma of Rothmund-Thomson RTS Poikiloderma of Rothmund-Thomson ICD10:Q82.8 RTS prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 OMIM:268400 Orphanet ID- 2785 EXACT RTS EXACT Poikiloderma of Rothmund-Thomson Roussy-Levy syndrome Areflexic dystasia, hereditary, Roussy-Levy type Gene [OrphaNum:117908 ; Name:Peripheral myelin protein 22 ; Symbol:PMP22 ; xref: GENATLAS:PMP22 ; xref: HGNC:9118 ; xref: OMIM:601097 ; xref: UNIPROTKB/SWISSPROT:Q01453 ; xref: ENSEMBL:ENSG00000109099] Areflexic dystasia, hereditary, Roussy-Levy type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 ICD10:G60.0 Gene [OrphaNum:123473 ; Name:Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) ; Symbol:MPZ ; xref: GENATLAS:MPZ ; xref: HGNC:7225 ; xref: OMIM:159440 ; xref: UNIPROTKB/SWISSPROT:P25189 ; xref: ENSEMBL:ENSG00000158887] OMIM:180800 Orphanet ID- 2789 EXACT Areflexic dystasia, hereditary, Roussy-Levy type McCune-Albright syndrome Gonadotropin-independent female-limited sexual precocity Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] OMIM:174800 ICD10:Q78.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Orphanet ID- 279 Gonadotropin-independent female-limited sexual precocity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 EXACT Gonadotropin-independent female-limited sexual precocity Rudiger syndrome ICD10:Q87.0 Orphanet ID- 2792 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3118 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:268650 Ruvalcaba syndrome OMIM:180870 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121 Orphanet ID- 2795 ICD10:Q87.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Brittle hair syndrome, Sabinas type Brittle hair - mental deficiency Trichothiodystrophy type B Brittle hair - mental deficiency Orphanet ID- 2797 ICD10:L67.8 OMIM:211390 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3123 Trichothiodystrophy type B EXACT Brittle hair - mental deficiency EXACT Trichothiodystrophy type B Mucolipidosis type 3 Pseudo-Hurler polydystrophy Pseudo-Hurler polydystrophy Gene [OrphaNum:122221 ; Name:N-acetylglucosamine-1-phosphate transferase, gamma subunit ; Symbol:GNPTG ; xref: GENATLAS:GNPTG ; xref: HGNC:23026 ; xref: OMIM:607838 ; xref: UNIPROTKB/SWISSPROT:Q9UJJ9 ; xref: ENSEMBL:ENSG00000090581] ICD10:E77.0 OMIM:252605 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:252600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 Orphanet ID- 28 Gene [OrphaNum:122216 ; Name:N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits ; Symbol:GNPTAB ; xref: GENATLAS:GNPTAB ; xref: HGNC:29670 ; xref: OMIM:607840 ; xref: UNIPROTKB/SWISSPROT:Q3T906 ; xref: ENSEMBL:ENSG00000111670] EXACT Pseudo-Hurler polydystrophy Meckel syndrome Meckel-Gruber syndrome Gene [OrphaNum:140541 ; Name:RPGRIP1-like ; Symbol:RPGRIP1L ; xref: UNIPROTKB/SWISSPROT:Q68CZ1 ; xref: GENATLAS:RPGRIP1L ; xref: HGNC:29168 ; xref: OMIM:610937 ; xref: ENSEMBL:ENSG00000103494] Gene [OrphaNum:247155 ; Name:WD repeat containing planar cell polarity effector ; Symbol:WDPCP ; xref: ENSEMBL:ENSG00000143951 ; xref: HGNC:28027 ; xref: UNIPROTKB/SWISSPROT:O95876 ; xref: OMIM:613580 ; xref: GENATLAS:WDPCP] Gene [OrphaNum:270354 ; Name:B9 protein domain 1 ; Symbol:B9D1 ; xref: ENSEMBL:ENSG00000108641 ; xref: HGNC:24123 ; xref: GENATLAS:B9D1 ; xref: UNIPROTKB/SWISSPROT:Q9UPM9 ; xref: OMIM:614144] OMIM:612284 Gene [OrphaNum:120140 ; Name:Transmembrane protein 67 ; Symbol:TMEM67 ; xref: GENATLAS:TMEM67 ; xref: HGNC:28396 ; xref: OMIM:609884 ; xref: UNIPROTKB/SWISSPROT:Q5HYA8 ; xref: ENSEMBL:ENSG00000164953] OMIM:607361 ICD10:Q61.9 OMIM:614175 Gene [OrphaNum:119343 ; Name:Centrosomal protein 290kDa ; Symbol:CEP290 ; xref: GENATLAS:CEP290 ; xref: HGNC:29021 ; xref: OMIM:610142 ; xref: UNIPROTKB/SWISSPROT:O15078 ; xref: ENSEMBL:ENSG00000198707 ; xref: REACTOME:O15078] OMIM:614209 OMIM:249000 Gene [OrphaNum:279753 ; Name:B9 protein domain 2 ; Symbol:B9D2 ; xref: ENSEMBL:ENSG00000123810 ; xref: REACTOME:Q9BPU9 ; xref: HGNC:28636 ; xref: OMIM:611951 ; xref: GENATLAS:B9D2 ; xref: UNIPROTKB/SWISSPROT:Q9BPU9] Gene [OrphaNum:221342 ; Name:Transmembrane protein 216 ; Symbol:TMEM216 ; xref: ENSEMBL:ENSG00000187049 ; xref: GENATLAS:TMEM216 ; xref: HGNC:25018 ; xref: OMIM:613277 ; xref: UNIPROTKB/SWISSPROT:Q9P0N5] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Gene [OrphaNum:123253 ; Name:Meckel syndrome, type 1 ; Symbol:MKS1 ; xref: GENATLAS:MKS1 ; xref: HGNC:7121 ; xref: OMIM:609883 ; xref: UNIPROTKB/SWISSPROT:Q9NXB0 ; xref: ENSEMBL:ENSG00000011143] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 Meckel-Gruber syndrome Gene [OrphaNum:118388 ; Name:Retinitis pigmentosa GTPase regulator interacting protein 1 ; Symbol:RPGRIP1 ; xref: GENATLAS:RPGRIP1 ; xref: HGNC:13436 ; xref: OMIM:605446 ; xref: UNIPROTKB/SWISSPROT:Q96KN7 ; xref: ENSEMBL:ENSG00000092200] OMIM:603194 Gene [OrphaNum:159539 ; Name:Coiled-coil and C2 domain containing 2A ; Symbol:CC2D2A ; xref: GENATLAS:CC2D2A ; xref: HGNC:29253 ; xref: OMIM:612013 ; xref: UNIPROTKB/SWISSPROT:Q9P2K1 ; xref: ENSEMBL:ENSG00000048342] Orphanet ID- 280 OMIM:611134 OMIM:611561 OMIM:613885 Gene [OrphaNum:260361 ; Name:Tectonic family member 2 ; Symbol:TCTN2 ; xref: GENATLAS:TCTN2 ; xref: HGNC:25774 ; xref: OMIM:613846 ; xref: UNIPROTKB/SWISSPROT:Q96GX1 ; xref: ENSEMBL:ENSG00000168778] EXACT Meckel-Gruber syndrome Sakati-Nyhan syndrome ACPS III ACPS with leg hypoplasia Acrocephalopolysyndactyly type 3 Sakati syndrome Sakati-Nyhan-Tisdale syndrome ACPS with leg hypoplasia Orphanet ID- 2800 Sakati-Nyhan-Tisdale syndrome ACPS III prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Acrocephalopolysyndactyly type 3 OMIM:101120 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3128 Sakati syndrome EXACT ACPS with leg hypoplasia EXACT Sakati-Nyhan-Tisdale syndrome EXACT ACPS III EXACT Sakati syndrome EXACT Acrocephalopolysyndactyly type 3 Say-Barber-Miller syndrome Microcephaly - hypogammaglobulinemia - abnormal immunity Orphanet ID- 2803 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Microcephaly - hypogammaglobulinemia - abnormal immunity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 OMIM:251240 EXACT Microcephaly - hypogammaglobulinemia - abnormal immunity Say-Field-Coldwell syndrome Triphalangeal thumbs - dislocation of patella Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3133 Orphanet ID- 2804 OMIM:190650 Triphalangeal thumbs - dislocation of patella prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Triphalangeal thumbs - dislocation of patella SCARF syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; Orphanet ID- 2805 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 OMIM:312830 Schinzel-Giedion syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 Gene [OrphaNum:231397 ; Name:SET binding protein 1 ; Symbol:SETBP1 ; xref: GENATLAS:SETBP1 ; xref: HGNC:15573 ; xref: OMIM:611060 ; xref: UNIPROTKB/SWISSPROT:Q9Y6X0 ; xref: ENSEMBL:ENSG00000152217] OMIM:269150 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; ICD10:Q87.0 Orphanet ID- 2807 Ulnar-mammary syndrome Schinzel syndrome UMS Ulnar-mammary syndrome of Pallister Gene [OrphaNum:119961 ; Name:T-box 3 (ulnar mammary syndrome) ; Symbol:TBX3 ; xref: GENATLAS:TBX3 ; xref: HGNC:11602 ; xref: OMIM:601621 ; xref: UNIPROTKB/SWISSPROT:O15119 ; xref: ENSEMBL:ENSG00000135111] Orphanet ID- 2808 OMIM:181450 Ulnar-mammary syndrome of Pallister prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; UMS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 Schinzel syndrome ICD10:Q71.8 EXACT Ulnar-mammary syndrome of Pallister EXACT Schinzel syndrome EXACT UMS Microphthalmia, Lenz type Lenz microphthalmia MCOPS1 Syndromic microphthalmia type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 ICD10:Q11.2 Gene [OrphaNum:119012 ; Name:BCL6 co-repressor ; Symbol:BCOR ; xref: GENATLAS:BCOR ; xref: HGNC:20893 ; xref: OMIM:300485 ; xref: UNIPROTKB/SWISSPROT:Q6W2J9 ; xref: ENSEMBL:ENSG00000183337] OMIM:309800 Syndromic microphthalmia type 1 Lenz microphthalmia prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 281 MCOPS1 EXACT Syndromic microphthalmia type 1 EXACT Lenz microphthalmia EXACT MCOPS1 Schneckenbecken dysplasia Chondrodysplasia with snail-like pelvis OMIM:269250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 ICD10:Q77.7 Orphanet ID- 2813 Chondrodysplasia with snail-like pelvis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:168079 ; Name:Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 ; Symbol:SLC35D1 ; xref: GENATLAS:SLC35D1 ; xref: HGNC:20800 ; xref: OMIM:610804 ; xref: UNIPROTKB/SWISSPROT:Q9NTN3 ; xref: ENSEMBL:ENSG00000116704 ; xref: REACTOME:Q9NTN3] EXACT Chondrodysplasia with snail-like pelvis Nephrogenic diabetes insipidus - intracranial calcification Schofer-Beetz-Bohl syndrome OMIM:221995 Orphanet ID- 2814 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Schofer-Beetz-Bohl syndrome EXACT Schofer-Beetz-Bohl syndrome Sclerosteosis Cortical hyperostosis - syndactyly Gene [OrphaNum:123431 ; Name:Sclerosteosis gene ; Symbol:SOST ; xref: GENATLAS:SOST ; xref: HGNC:13771 ; xref: OMIM:605740 ; xref: UNIPROTKB/SWISSPROT:Q9BQB4 ; xref: ENSEMBL:ENSG00000167941] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q78.8 Orphanet ID- 2819 Gene [OrphaNum:233032 ; Name:Low density lipoprotein receptor-related protein 4 ; Symbol:LRP4 ; xref: ENSEMBL:ENSG00000134569 ; xref: HGNC:6696 ; xref: GENATLAS:LRP4 ; xref: UNIPROTKB/SWISSPROT:O75096 ; xref: OMIM:604270] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 Cortical hyperostosis - syndactyly OMIM:269500 OMIM:614305 EXACT Cortical hyperostosis - syndactyly Familial hemophagocytic lymphohistiocytosis Familial HLH ICD10:D76.1 OMIM:613101 OMIM:608898 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 OMIM:267700 Gene [OrphaNum:227102 ; Name:Syntaxin binding protein 2 ; Symbol:STXBP2 ; xref: GENATLAS:STXBP2 ; xref: HGNC:11445 ; xref: OMIM:601717 ; xref: UNIPROTKB/SWISSPROT:Q15833 ; xref: ENSEMBL:ENSG00000076944] Gene [OrphaNum:117995 ; Name:Perforin 1 (pore forming protein) ; Symbol:PRF1 ; xref: GENATLAS:PRF1 ; xref: HGNC:9360 ; xref: OMIM:170280 ; xref: UNIPROTKB/SWISSPROT:P14222 ; xref: ENSEMBL:ENSG00000180644] Gene [OrphaNum:120416 ; Name:Unc-13 homolog D (C. elegans) ; Symbol:UNC13D ; xref: GENATLAS:UNC13D ; xref: HGNC:23147 ; xref: OMIM:608897 ; xref: UNIPROTKB/SWISSPROT:Q70J99 ; xref: ENSEMBL:ENSG00000092929] Gene [OrphaNum:119892 ; Name:Syntaxin 11 ; Symbol:STX11 ; xref: GENATLAS:STX11 ; xref: HGNC:11429 ; xref: OMIM:605014 ; xref: UNIPROTKB/SWISSPROT:O75558 ; xref: REACTOME:O75558 ; xref: ENSEMBL:ENSG00000135604] OMIM:603552 Familial HLH OMIM:603553 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 282 EXACT Familial HLH Nijmegen breakage syndrome AT V1 Ataxia-telangiectasia, variant 1 Berlin breakage syndrome Immunodeficiency - microcephaly - chromosomal instability Microcephaly - immunodeficiency - lymphoreticuloma NBS Seemanova syndrome type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 Gene [OrphaNum:123688 ; Name:Nibrin ; Symbol:NBN ; xref: GENATLAS:NBN ; xref: HGNC:7652 ; xref: OMIM:602667 ; xref: UNIPROTKB/SWISSPROT:O60934 ; xref: ENSEMBL:ENSG00000104320 ; xref: REACTOME:O60934] Berlin breakage syndrome Microcephaly - immunodeficiency - lymphoreticuloma prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Seemanova syndrome type 2 Ataxia-telangiectasia, variant 1 OMIM:251260 Immunodeficiency - microcephaly - chromosomal instability AT V1 NBS Orphanet ID- 2823 EXACT Immunodeficiency - microcephaly - chromosomal instability EXACT AT V1 EXACT NBS EXACT Microcephaly - immunodeficiency - lymphoreticuloma EXACT Ataxia-telangiectasia, variant 1 EXACT Berlin breakage syndrome EXACT Seemanova syndrome type 2 Senior-Loken syndrome Nephronophthisis with retinal dystrophy Renal dysplasia - retinal aplasia SLSN Renal dysplasia - retinal aplasia Gene [OrphaNum:123874 ; Name:Nephronophthisis 1 (juvenile) ; Symbol:NPHP1 ; xref: GENATLAS:NPHP1 ; xref: HGNC:7905 ; xref: OMIM:607100 ; xref: UNIPROTKB/SWISSPROT:O15259 ; xref: ENSEMBL:ENSG00000144061] ICD10:Q74.8 OMIM:613615 Gene [OrphaNum:119343 ; Name:Centrosomal protein 290kDa ; Symbol:CEP290 ; xref: GENATLAS:CEP290 ; xref: HGNC:29021 ; xref: OMIM:610142 ; xref: UNIPROTKB/SWISSPROT:O15078 ; xref: ENSEMBL:ENSG00000198707 ; xref: REACTOME:O15078] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 OMIM:610189 Gene [OrphaNum:123884 ; Name:Nephronophthisis 4 ; Symbol:NPHP4 ; xref: GENATLAS:NPHP4 ; xref: HGNC:19104 ; xref: OMIM:607215 ; xref: UNIPROTKB/SWISSPROT:O75161 ; xref: ENSEMBL:ENSG00000131697 ; xref: REACTOME:O75161] Gene [OrphaNum:122667 ; Name:Inversin ; Symbol:INVS ; xref: GENATLAS:INVS ; xref: HGNC:17870 ; xref: OMIM:243305 ; xref: UNIPROTKB/SWISSPROT:Q9Y283 ; xref: ENSEMBL:ENSG00000119509] Gene [OrphaNum:123878 ; Name:Nephronophthisis 3 (adolescent) ; Symbol:NPHP3 ; xref: GENATLAS:NPHP3 ; xref: HGNC:7907 ; xref: OMIM:608002 ; xref: UNIPROTKB/SWISSPROT:Q7Z494 ; xref: ENSEMBL:ENSG00000113971] OMIM:609254 Orphanet ID- 2824 OMIM:266900 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; SLSN Gene [OrphaNum:244364 ; Name:Serologically defined colon cancer antigen 8 ; Symbol:SDCCAG8 ; xref: GENATLAS:SDCCAG8 ; xref: HGNC:10671 ; xref: OMIM:613524 ; xref: UNIPROTKB/SWISSPROT:Q86SQ7 ; xref: REACTOME:Q86SQ7 ; xref: ENSEMBL:ENSG00000054282] Nephronophthisis with retinal dystrophy Gene [OrphaNum:122670 ; Name:IQ motif containing B1 ; Symbol:IQCB1 ; xref: GENATLAS:IQCB1 ; xref: HGNC:28949 ; xref: OMIM:609237 ; xref: UNIPROTKB/SWISSPROT:Q15051 ; xref: ENSEMBL:ENSG00000173226] OMIM:606996 OMIM:606995 EXACT Nephronophthisis with retinal dystrophy EXACT Renal dysplasia - retinal aplasia EXACT SLSN Septo-optic dysplasia De Morsier syndrome SOD Septo-optic dysplasia spectrum ICD10:Q04.8 Gene [OrphaNum:119790 ; Name:SRY (sex determining region Y)-box 2 ; Symbol:SOX2 ; xref: GENATLAS:SOX2 ; xref: HGNC:11195 ; xref: OMIM:184429 ; xref: UNIPROTKB/SWISSPROT:P48431 ; xref: ENSEMBL:ENSG00000181449] Gene [OrphaNum:124040 ; Name:Orthodenticle homeobox 2 ; Symbol:OTX2 ; xref: GENATLAS:OTX2 ; xref: HGNC:8522 ; xref: OMIM:600037 ; xref: UNIPROTKB/SWISSPROT:P32243 ; xref: ENSEMBL:ENSG00000165588] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 Gene [OrphaNum:138386 ; Name:SRY (sex determining region Y)-box 3 ; Symbol:SOX3 ; xref: GENATLAS:SOX3 ; xref: HGNC:11199 ; xref: OMIM:313430 ; xref: UNIPROTKB/SWISSPROT:P41225 ; xref: ENSEMBL:ENSG00000134595] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Gene [OrphaNum:122398 ; Name:HESX homeobox 1 ; Symbol:HESX1 ; xref: GENATLAS:HESX1 ; xref: HGNC:4877 ; xref: OMIM:601802 ; xref: UNIPROTKB/SWISSPROT:Q9UBX0 ; xref: ENSEMBL:ENSG00000163666] SOD OMIM:182230 Septo-optic dysplasia spectrum De Morsier syndrome Orphanet ID- 2825 EXACT De Morsier syndrome EXACT Septo-optic dysplasia spectrum EXACT SOD Atrial septal defect - atrioventricular conduction defects prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:108900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 Gene [OrphaNum:123797 ; Name:NK2 transcription factor related, locus 5 (Drosophila) ; Symbol:NKX2-5 ; xref: GENATLAS:NKX2-5 ; xref: HGNC:2488 ; xref: OMIM:600584 ; xref: UNIPROTKB/SWISSPROT:P52952 ; xref: ENSEMBL:ENSG00000183072] Orphanet ID- 2826 SHORT syndrome Aarskog-Ose-Pande syndrome Lipodystrophy - Rieger anomaly - diabetes Rieger anomaly - partial lipodystrophy OMIM:269880 ICD10:Q87.1 Aarskog-Ose-Pande syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2829 Rieger anomaly - partial lipodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 Lipodystrophy - Rieger anomaly - diabetes EXACT Lipodystrophy - Rieger anomaly - diabetes EXACT Aarskog-Ose-Pande syndrome EXACT Rieger anomaly - partial lipodystrophy Jeune syndrome Asphyxiating thoracic dystrophy of the newborn JATD Jeune asphyxiating thoracic dystrophy ICD10:Q77.2 Gene [OrphaNum:160278 ; Name:Intraflagellar transport 80 homolog ; Symbol:IFT80 ; xref: ENSEMBL:ENSG00000068885 ; xref: GENATLAS:IFT80 ; xref: HGNC:29262 ; xref: UNIPROTKB/SWISSPROT:Q9P2H3 ; xref: OMIM:611177] Jeune asphyxiating thoracic dystrophy JATD Gene [OrphaNum:285468 ; Name:WD Repeat domain 19 ; Symbol:WDR19 ; xref: ENSEMBL:ENSG00000157796 ; xref: OMIM:608151 ; xref: UNIPROTKB/SWISSPROT:Q8NEZ3 ; xref: GENATLAS:WDR19 ; xref: HGNC:18340] OMIM:208500 Gene [OrphaNum:260351 ; Name:tetratricopeptide repeat domain 21B ; Symbol:TTC21B ; xref: ENSEMBL:ENSG00000123607 ; xref: HGNC:25660 ; xref: OMIM:612014 ; xref: GENATLAS:TTC21B ; xref: UNIPROTKB/SWISSPROT:Q7Z4L5] OMIM:614376 OMIM:613819 Orphanet ID- 283 OMIM:611263 Gene [OrphaNum:302892 ; Name:Intraflagellar transport 140 homolog (Chlamydomonas) ; Symbol:IFT140 ; xref: HGNC:29077 ; xref: OMIM:614620 ; xref: GENATLAS:IFT140 ; xref: UNIPROTKB/SWISSPROT:Q96RY7] OMIM:613091 Gene [OrphaNum:183938 ; Name:Dynein, cytoplasmic 2, heavy chain 1 ; Symbol:DYNC2H1 ; xref: ENSEMBL:ENSG00000187240 ; xref: GENATLAS:DYNC2H1 ; xref: HGNC:2962 ; xref: OMIM:603297 ; xref: UNIPROTKB/SWISSPROT:Q8N977] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Asphyxiating thoracic dystrophy of the newborn EXACT JATD EXACT Jeune asphyxiating thoracic dystrophy EXACT Asphyxiating thoracic dystrophy of the newborn Omphalocele syndrome, Shprintzen-Goldberg type Orphanet ID- 2830 ICD10:Q79.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:182210 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 Sillence syndrome Brachydactyly-symphalangism syndrome Orphanet ID- 2831 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168 Brachydactyly-symphalangism syndrome OMIM:113450 EXACT Brachydactyly-symphalangism syndrome Spasticity - intellectual deficit - X-linked epilepsy Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- X-linked recessive; Orphanet ID- 2835 Corneal-cerebellar syndrome Der Kaloustian-Jarudi-Khoury syndrome Spinocerebellar degeneration - corneal dystrophy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:271310 Orphanet ID- 2836 Spinocerebellar degeneration - corneal dystrophy Der Kaloustian-Jarudi-Khoury syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 EXACT Spinocerebellar degeneration - corneal dystrophy EXACT Der Kaloustian-Jarudi-Khoury syndrome Congenital muscular dystrophy type 1A Congenital muscular dystrophy due to laminin alpha2 deficiency MDC1A Merosin-negative congenital muscular dystrophy Gene [OrphaNum:122961 ; Name:Laminin, alpha 2 (merosin, congenital muscular dystrophy) ; Symbol:LAMA2 ; xref: GENATLAS:LAMA2 ; xref: HGNC:6482 ; xref: OMIM:156225 ; xref: UNIPROTKB/SWISSPROT:P24043 ; xref: ENSEMBL:ENSG00000196569 ; xref: REACTOME:P24043] Congenital muscular dystrophy due to laminin alpha2 deficiency OMIM:607855 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Merosin-negative congenital muscular dystrophy ICD10:G71.2 Orphanet ID- 284 MDC1A EXACT Merosin-negative congenital muscular dystrophy EXACT MDC1A EXACT Congenital muscular dystrophy due to laminin alpha2 deficiency Autosomal dominant spondylocostal dysostosis Autosomal dominant spondylocostal dysplasia ICD10:Q76.4 prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal dominant spondylocostal dysplasia Orphanet ID- 2841 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797 OMIM:122600 EXACT Autosomal dominant spondylocostal dysplasia Spondyloenchondrodysplasia SPENCD Spondyloenchondromatosis Spondylometaphyseal dysplasia with enchondromatous changes Spondylometaphyseal dysplasia with enchondromatous changes ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 Spondyloenchondromatosis Orphanet ID- 2842 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:271550 Gene [OrphaNum:259358 ; Name:acid phosphatase 5, tartrate resistant ; Symbol:ACP5 ; xref: ENSEMBL:ENSG00000102575 ; xref: REACTOME:P13686 ; xref: HGNC:124 ; xref: OMIM:171640 ; xref: GENATLAS:ACP5 ; xref: UNIPROTKB/SWISSPROT:P13686] SPENCD EXACT SPENCD EXACT Spondylometaphyseal dysplasia with enchondromatous changes EXACT Spondyloenchondromatosis Spondyloepimetaphyseal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252 Orphanet ID- 2843 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Spondyloperipheral dysplasia - short ulna prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2852 OMIM:271700 ICD10:Q77.7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] Sprengel deformity High scapula Orphanet ID- 2853 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:184400 ICD10:Q74.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3181 High scapula EXACT High scapula Steatocystoma multiplex - natal teeth Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 OMIM:184510 Orphanet ID- 2856 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Holoprosencephaly - radial heart renal anomalies Steinfeld syndrome Steinfeld syndrome Orphanet ID- 2857 OMIM:184705 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Steinfeld syndrome Subaortic stenosis - short stature Onat syndrome Onat syndrome Orphanet ID- 2858 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 OMIM:271960 EXACT Onat syndrome Stern-Lubinsky-Durrie syndrome Corneodermatoosseous syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:122440 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 Orphanet ID- 2860 Corneodermatoosseous syndrome EXACT Corneodermatoosseous syndrome Hereditary hyperekplexia Congenital Stiff man syndrome Familial Startle disease Hereditary hyperexplexia Hyperekplexia Kok disease Stiff baby syndrome Gene [OrphaNum:158412 ; Name:Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 ; Symbol:SLC6A5 ; xref: GENATLAS:SLC6A5 ; xref: HGNC:11051 ; xref: OMIM:604159 ; xref: UNIPROTKB/SWISSPROT:Q9Y345 ; xref: REACTOME:Q9Y345 ; xref: ENSEMBL:ENSG00000165970] Hereditary hyperexplexia OMIM:149400 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:122179 ; Name:Glycine receptor, alpha 1 (startle disease/hyperekplexia) ; Symbol:GLRA1 ; xref: GENATLAS:GLRA1 ; xref: HGNC:4326 ; xref: OMIM:138491 ; xref: UNIPROTKB/SWISSPROT:P23415 ; xref: REACTOME:P23415 ; xref: IUPHAR:423 ; xref: ENSEMBL:ENSG00000145888] ICD10:G25.8 Gene [OrphaNum:122182 ; Name:Glycine receptor, beta ; Symbol:GLRB ; xref: GENATLAS:GLRB ; xref: HGNC:4329 ; xref: OMIM:138492 ; xref: UNIPROTKB/SWISSPROT:P48167 ; xref: IUPHAR:427 ; xref: ENSEMBL:ENSG00000109738 ; xref: REACTOME:P48167] Kok disease Familial Startle disease Gene [OrphaNum:122256 ; Name:Gephyrin ; Symbol:GPHN ; xref: GENATLAS:GPHN ; xref: HGNC:15465 ; xref: OMIM:603930 ; xref: UNIPROTKB/SWISSPROT:Q9NQX3 ; xref: REACTOME:Q9NQX3 ; xref: ENSEMBL:ENSG00000171723] OMIM:614618 OMIM:614619 Orphanet ID- 2862 Hyperekplexia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 Congenital Stiff man syndrome Stiff baby syndrome EXACT Familial Startle disease EXACT Stiff baby syndrome EXACT Hereditary hyperexplexia EXACT Congenital Stiff man syndrome EXACT Hyperekplexia EXACT Kok disease Stimmler syndrome Orphanet ID- 2863 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:202900 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199 Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence Stoll-Kieny-Dott syndrome Orphanet ID- 2864 Stoll-Kieny-Dott syndrome ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 OMIM:192445 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; EXACT Stoll-Kieny-Dott syndrome Summitt syndrome Orphanet ID- 2865 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:272350 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3210 Autosomal dominant optic atrophy and congenital deafness Konigsmark-Knox-Hussels syndrome OMIM:125250 Konigsmark-Knox-Hussels syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3212 Gene [OrphaNum:123996 ; Name:Optic atrophy 1 (autosomal dominant) ; Symbol:OPA1 ; xref: GENATLAS:OPA1 ; xref: HGNC:8140 ; xref: OMIM:605290 ; xref: UNIPROTKB/SWISSPROT:O60313 ; xref: ENSEMBL:ENSG00000198836] Orphanet ID- 2867 prevalence- null; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Konigsmark-Knox-Hussels syndrome Deaf blind hypopigmentation syndrome, Yemenite type Warburg-Thomsen syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 Warburg-Thomsen syndrome Orphanet ID- 2869 OMIM:601706 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Warburg-Thomsen syndrome Ellis Van Creveld syndrome Chondroectodermal dysplasia Mesodermic dysplasia ICD10:Q77.6 Chondroectodermal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 Mesodermic dysplasia OMIM:225500 Gene [OrphaNum:121639 ; Name:Ellis van Creveld syndrome 2 (limbin) ; Symbol:EVC2 ; xref: GENATLAS:EVC2 ; xref: HGNC:19747 ; xref: OMIM:607261 ; xref: UNIPROTKB/SWISSPROT:Q86UK5 ; xref: ENSEMBL:ENSG00000173040] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 287 Gene [OrphaNum:121636 ; Name:Ellis van Creveld syndrome ; Symbol:EVC ; xref: GENATLAS:EVC ; xref: HGNC:3497 ; xref: OMIM:604831 ; xref: UNIPROTKB/SWISSPROT:P57679 ; xref: ENSEMBL:ENSG00000072840] EXACT Chondroectodermal dysplasia EXACT Mesodermic dysplasia Deafness - small bowel diverticulosis - neuropathy Groll-Hirschowitz syndrome OMIM:221400 Groll-Hirschowitz syndrome Orphanet ID- 2873 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217 EXACT Groll-Hirschowitz syndrome Deafness - epiphyseal dysplasia - short stature Chitty-Hall-Baraitser syndrome Chitty-Hall-Baraitser syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601351 Orphanet ID- 2875 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218 EXACT Chitty-Hall-Baraitser syndrome Fountain syndrome Deafness - skeletal dysplasia - lip granuloma OMIM:229120 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 Orphanet ID- 2876 Deafness - skeletal dysplasia - lip granuloma prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.8 EXACT Deafness - skeletal dysplasia - lip granuloma Deafness - enamel hypoplasia - nail defects Heimler syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 2877 Heimler syndrome OMIM:234580 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 EXACT Heimler syndrome Generalized resistance to thyroid hormone Deafness - thyroid hormone resistance Refetoff syndrome Deafness - thyroid hormone resistance OMIM:274300 OMIM:188570 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3221 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2878 ICD10:E07.8 Gene [OrphaNum:120101 ; Name:Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) ; Symbol:THRB ; xref: GENATLAS:THRB ; xref: HGNC:11799 ; xref: OMIM:190160 ; xref: UNIPROTKB/SWISSPROT:P10828 ; xref: IUPHAR:589 ; xref: REACTOME:P10828 ; xref: ENSEMBL:ENSG00000151090] Refetoff syndrome EXACT Deafness - thyroid hormone resistance EXACT Refetoff syndrome Phosphoribosylpyrophosphate synthetase superactivity Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 Orphanet ID- 2879 ICD10:E79.8 Gene [OrphaNum:118076 ; Name:Phosphoribosyl pyrophosphate synthetase 1 ; Symbol:PRPS1 ; xref: GENATLAS:PRPS1 ; xref: HGNC:9462 ; xref: OMIM:311850 ; xref: UNIPROTKB/SWISSPROT:P60891 ; xref: ENSEMBL:ENSG00000147224 ; xref: REACTOME:P60891] OMIM:300661 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Deafness - genital anomalies - metacarpal and metatarsal synostosis Pfeiffer-Kapferer syndrome Pfeiffer-Kapferer syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 Orphanet ID- 2881 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; EXACT Pfeiffer-Kapferer syndrome Hearing loss - familial salivary gland insensitivity to aldosterone Tungland-Bellman syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225 Tungland-Bellman syndrome Orphanet ID- 2882 EXACT Tungland-Bellman syndrome Deafness - lymphedema - leukemia Emberger syndrome Gene [OrphaNum:274222 ; Name:GATA binding protein 2 ; Symbol:GATA2 ; xref: ENSEMBL:ENSG00000179348 ; xref: GENATLAS:GATA2 ; xref: HGNC:4171 ; xref: OMIM:137295 ; xref: UNIPROTKB/SWISSPROT:P23769 ; xref: REACTOME:P23769] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Emberger syndrome ICD10:Q82.0 ICD10:H90.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3226 Orphanet ID- 2883 OMIM:614038 ICD10:C92.0 EXACT Emberger syndrome Deafness - peripheral neuropathy - arterial disease prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2887 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3229 OMIM:124950 Deafness - oligodontia Orphanet ID- 2890 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 OMIM:221740 Deafness - onychodystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:Q87.8 Orphanet ID- 2891 Deafness - ear malformation - facial palsy Sellars-Beighton syndrome ICD10:Q87.0 OMIM:124490 Orphanet ID- 2892 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Sellars-Beighton syndrome EXACT Sellars-Beighton syndrome Cochleosaccular degeneration - cataract Orphanet ID- 2893 OMIM:120040 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Progressive deafness with stapes fixation Stapedo-vestibular ankylosis Thies-Reis syndrome OMIM:601449 Stapedo-vestibular ankylosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235 ICD10:H74.3 Thies-Reis syndrome Orphanet ID- 2894 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; EXACT Thies-Reis syndrome EXACT Stapedo-vestibular ankylosis Conductive deafness - ptosis - skeletal anomalies Jackson-Barr syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2895 OMIM:221320 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236 Jackson-Barr syndrome EXACT Jackson-Barr syndrome Multiple synostoses syndrome Deafness - symphalangism syndrome, Hermann type Facio-audio-symphalangism Symphalangism - brachydactyly WL syndrome OMIM:610017 ICD10:Q87.8 WL syndrome Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965] Gene [OrphaNum:123854 ; Name:Noggin ; Symbol:NOG ; xref: GENATLAS:NOG ; xref: HGNC:7866 ; xref: OMIM:602991 ; xref: UNIPROTKB/SWISSPROT:Q13253 ; xref: ENSEMBL:ENSG00000183691 ; xref: REACTOME:Q13253] Symphalangism - brachydactyly Deafness - symphalangism syndrome, Hermann type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 Orphanet ID- 2896 Gene [OrphaNum:201587 ; Name:Fibroblast growth factor 9 (glia-activating factor) ; Symbol:FGF9 ; xref: REACTOME:P31371 ; xref: GENATLAS:FGF9 ; xref: HGNC:3687 ; xref: OMIM:600921 ; xref: UNIPROTKB/SWISSPROT:P31371 ; xref: ENSEMBL:ENSG00000102678] OMIM:612961 OMIM:186500 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Facio-audio-symphalangism EXACT Symphalangism - brachydactyly EXACT WL syndrome EXACT Deafness - symphalangism syndrome, Hermann type EXACT Facio-audio-symphalangism Cardiospondylocarpofacial syndrome Forney syndrome Forney-Robinson-Pascoe syndrome Mitral regurgitation - deafness - skeletal anomalies prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238 Mitral regurgitation - deafness - skeletal anomalies OMIM:157800 Forney-Robinson-Pascoe syndrome Forney syndrome Orphanet ID- 2897 EXACT Mitral regurgitation - deafness - skeletal anomalies EXACT Forney syndrome EXACT Forney-Robinson-Pascoe syndrome Deafness - vitiligo - achalasia OMIM:221350 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239 Orphanet ID- 2898 Deafness-craniofacial syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2899 OMIM:125230 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241 Mucolipidosis type 4 Gene [OrphaNum:123175 ; Name:Mucolipin 1 ; Symbol:MCOLN1 ; xref: GENATLAS:MCOLN1 ; xref: HGNC:13356 ; xref: OMIM:605248 ; xref: UNIPROTKB/SWISSPROT:Q9GZU1 ; xref: IUPHAR:501 ; xref: ENSEMBL:ENSG00000090674] Orphanet ID- 29 OMIM:252650 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 Renpenning syndrome X-linked intellectual deficit due to PQBP1 mutations X-linked intellectual deficit, Renpenning type X-linked intellectual deficit due to PQBP1 mutations prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; ICD10:F72.9 Orphanet ID- 2900 X-linked intellectual deficit, Renpenning type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242 EXACT X-linked intellectual deficit due to PQBP1 mutations EXACT X-linked intellectual deficit, Renpenning type Symphalangism with multiple anomalies of hands and feet Learman syndrome Learman syndrome Orphanet ID- 2903 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:185750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 EXACT Learman syndrome Distal symphalangism prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 2905 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248 ICD10:Q70.9 OMIM:185700 Proximal symphalangism Symphalangism, Cushing type Orphanet ID- 2907 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 Gene [OrphaNum:122066 ; Name:Growth differentiation factor 5 ; Symbol:GDF5 ; xref: GENATLAS:GDF5 ; xref: HGNC:4220 ; xref: OMIM:601146 ; xref: UNIPROTKB/SWISSPROT:P43026 ; xref: ENSEMBL:ENSG00000125965] Symphalangism, Cushing type Gene [OrphaNum:123854 ; Name:Noggin ; Symbol:NOG ; xref: GENATLAS:NOG ; xref: HGNC:7866 ; xref: OMIM:602991 ; xref: UNIPROTKB/SWISSPROT:Q13253 ; xref: ENSEMBL:ENSG00000183691 ; xref: REACTOME:Q13253] OMIM:185800 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q70.9 EXACT Symphalangism, Cushing type Zlotogora-Ogur syndrome CLPED1 Syndactyly - ectodermal dysplasia - cleft/lip palate Gene [OrphaNum:118162 ; Name:Poliovirus receptor-related 1 (herpesvirus entry mediator C) ; Symbol:PVRL1 ; xref: GENATLAS:PVRL1 ; xref: HGNC:9706 ; xref: OMIM:600644 ; xref: UNIPROTKB/SWISSPROT:Q15223 ; xref: ENSEMBL:ENSG00000110400 ; xref: REACTOME:Q15223] Syndactyly - ectodermal dysplasia - cleft/lip palate CLPED1 Orphanet ID- 2908 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:225000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 OMIM:225060 EXACT Syndactyly - ectodermal dysplasia - cleft/lip palate EXACT CLPED1 Filippi syndrome Syndactyly type 1 - microcephaly - intellectual deficit Orphanet ID- 2910 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Syndactyly type 1 - microcephaly - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 OMIM:272440 EXACT Syndactyly type 1 - microcephaly - intellectual deficit Cenani-Lenz syndactyly Cenani syndactyly Cenani-Lenz syndrome Type 7 syndactyly ICD10:Q78.4 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 2913 Gene [OrphaNum:233032 ; Name:Low density lipoprotein receptor-related protein 4 ; Symbol:LRP4 ; xref: ENSEMBL:ENSG00000134569 ; xref: HGNC:6696 ; xref: GENATLAS:LRP4 ; xref: UNIPROTKB/SWISSPROT:O75096 ; xref: OMIM:604270] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 Cenani-Lenz syndrome OMIM:212780 Type 7 syndactyly Cenani syndactyly EXACT Type 7 syndactyly EXACT Cenani syndactyly EXACT Cenani-Lenz syndrome Humeroradial synostosis prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:143050 Orphanet ID- 2916 OMIM:236400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265 ICD10:Q74.0 Humeroradioulnar synostosis Orphanet ID- 2917 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Unknown; ICD10:Q74.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266 Familial lambdoid synostosis OMIM:600775 ICD10:Q75.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2918 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3267 Synostosis - microcephaly - scoliosis Giuffré-Tsukahara syndrome Tsukahara syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Giuffré-Tsukahara syndrome Orphanet ID- 2919 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268 Tsukahara syndrome OMIM:603438 EXACT Giuffré-Tsukahara syndrome EXACT Tsukahara syndrome Radioulnar synostosis - intellectual deficit - hypotonia Der Kaloustian-McIntosh-Silver syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 OMIM:266255 Orphanet ID- 2920 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Der Kaloustian-McIntosh-Silver syndrome EXACT Der Kaloustian-McIntosh-Silver syndrome Granulomatous arthritis of childhood Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3274 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2922 Synspondylism Spondylocarpotarsal synostosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 Gene [OrphaNum:121860 ; Name:Filamin B, beta (actin binding protein 278) ; Symbol:FLNB ; xref: GENATLAS:FLNB ; xref: HGNC:3755 ; xref: OMIM:603381 ; xref: UNIPROTKB/SWISSPROT:O75369 ; xref: ENSEMBL:ENSG00000136068 ; xref: REACTOME:O75369] Orphanet ID- 2923 ICD10:Q76.4 Spondylocarpotarsal synostosis OMIM:272460 EXACT Spondylocarpotarsal synostosis Apolipoprotein A-I deficiency Familial hypoalphalipoproteinemia Gene [OrphaNum:159528 ; Name:ATP-binding cassette, sub-family A (ABC1), member 1 ; Symbol:ABCA1 ; xref: GENATLAS:ABCA1 ; xref: HGNC:29 ; xref: OMIM:600046 ; xref: UNIPROTKB/SWISSPROT:O95477 ; xref: REACTOME:O95477 ; xref: ENSEMBL:ENSG00000165029] Orphanet ID- 2927 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 OMIM:604091 ICD10:E78.6 prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Gene [OrphaNum:121380 ; Name:Apolipoprotein A-I ; Symbol:APOA1 ; xref: GENATLAS:APOA1 ; xref: HGNC:600 ; xref: OMIM:107680 ; xref: UNIPROTKB/SWISSPROT:P02647 ; xref: ENSEMBL:ENSG00000118137 ; xref: REACTOME:P02647] Familial hypoalphalipoproteinemia EXACT Familial hypoalphalipoproteinemia Taurodontism Orphanet ID- 2929 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:K00.2 OMIM:272700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3289 Treacher-Collins syndrome Franceschetti-Klein syndrome Mandibulofacial dysostosis without limb anomalies OMIM:613717 Gene [OrphaNum:250168 ; Name:Polymerase (RNA) I polypeptide D, 16kDa ; Symbol:POLR1D ; xref: ENSEMBL:ENSG00000186184 ; xref: REACTOME:Q9Y2S0 ; xref: GENATLAS:POLR1D ; xref: HGNC:20422 ; xref: OMIM:613715 ; xref: UNIPROTKB/SWISSPROT:Q9Y2S0] Franceschetti-Klein syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:248390 Gene [OrphaNum:250183 ; Name:Polymerase (RNA) I polypeptide C, 30kDa ; Symbol:POLR1C ; xref: ENSEMBL:ENSG00000171453 ; xref: REACTOME:O15160 ; xref: UNIPROTKB/SWISSPROT:O15160 ; xref: OMIM:610060 ; xref: HGNC:20194 ; xref: GENATLAS:POLR1C] Gene [OrphaNum:120003 ; Name:Treacher Collins-Franceschetti syndrome 1 ; Symbol:TCOF1 ; xref: GENATLAS:TCOF1 ; xref: HGNC:11654 ; xref: OMIM:606847 ; xref: UNIPROTKB/SWISSPROT:Q13428 ; xref: ENSEMBL:ENSG00000070814] ICD10:Q75.4 OMIM:154500 Mandibulofacial dysostosis without limb anomalies Orphanet ID- 293 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 EXACT Mandibulofacial dysostosis without limb anomalies EXACT Franceschetti-Klein syndrome Telecanthus - hypertelorism - strabismus - pes cavus prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2933 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 Tetraamelia - multiple malformations Zimmer phocomelia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 OMIM:273395 Gene [OrphaNum:120537 ; Name:Wingless-type MMTV integration site family, member 3 ; Symbol:WNT3 ; xref: ENSEMBL:ENSG00000108379 ; xref: REACTOME:P56703 ; xref: GENATLAS:WNT3 ; xref: HGNC:12782 ; xref: OMIM:165330 ; xref: UNIPROTKB/SWISSPROT:P56703] Orphanet ID- 2939 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Zimmer phocomelia EXACT Zimmer phocomelia Unverricht-Lundborg disease Progressive myoclonic epilepsy type 1 ULD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 Gene [OrphaNum:169957 ; Name:Prickle homolog 1 (Drosophila) ; Symbol:PRICKLE1 ; xref: GENATLAS:PRICKLE1 ; xref: HGNC:17019 ; xref: OMIM:608500 ; xref: UNIPROTKB/SWISSPROT:Q96MT3 ; xref: ENSEMBL:ENSG00000139174] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:612437 ULD OMIM:254800 OMIM:310370 Orphanet ID- 294 Gene [OrphaNum:165923 ; Name:Scavenger receptor class B, member 2 ; Symbol:SCARB2 ; xref: GENATLAS:SCARB2 ; xref: HGNC:1665 ; xref: OMIM:602257 ; xref: UNIPROTKB/SWISSPROT:Q14108 ; xref: ENSEMBL:ENSG00000138760] ICD10:G40.3 Gene [OrphaNum:120867 ; Name:Cystatin B (stefin B) ; Symbol:CSTB ; xref: GENATLAS:CSTB ; xref: HGNC:2482 ; xref: OMIM:601145 ; xref: UNIPROTKB/SWISSPROT:P04080 ; xref: ENSEMBL:ENSG00000160213] Progressive myoclonic epilepsy type 1 EXACT ULD EXACT Progressive myoclonic epilepsy type 1 Fallot complex - intellectual deficit - growth delay Bindewald-Ulmer-Muller syndrome Orphanet ID- 2940 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304 OMIM:601127 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Bindewald-Ulmer-Muller syndrome EXACT Bindewald-Ulmer-Muller syndrome Thalidomide embryopathy Fetal thalidomide syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 2943 ICD10:Q86.3 Fetal thalidomide syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 EXACT Fetal thalidomide syndrome Thiemann disease, familial form Aseptic necrosis of phalangeal epiphyses Osteochondritis of phalangeal epiphyses Osteochondrosis of phalangeal epiphyses Aseptic necrosis of phalangeal epiphyses Osteochondritis of phalangeal epiphyses OMIM:165700 Orphanet ID- 2945 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314 Osteochondrosis of phalangeal epiphyses prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Osteochondrosis of phalangeal epiphyses EXACT Osteochondritis of phalangeal epiphyses EXACT Aseptic necrosis of phalangeal epiphyses Thomas syndrome Potter sequence - cleft lip/palate - cardiopathy prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 Potter sequence - cleft lip/palate - cardiopathy Orphanet ID- 2946 EXACT Potter sequence - cleft lip/palate - cardiopathy Thoracolaryngopelvic dysplasia Barnes syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 Barnes syndrome Orphanet ID- 2947 ICD10:Q77.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:187760 OMIM:187770 EXACT Barnes syndrome Hoyeraal-Hreidarsson syndrome Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia Orphanet ID- 2949 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:121091 ; Name:Dyskeratosis congenita 1, dyskerin ; Symbol:DKC1 ; xref: GENATLAS:DKC1 ; xref: HGNC:2890 ; xref: OMIM:300126 ; xref: UNIPROTKB/SWISSPROT:O60832 ; xref: ENSEMBL:ENSG00000130826 ; xref: REACTOME:O60832] Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia ICD10:D61.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 OMIM:300240 EXACT Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia Thrombocytopenia - Robin sequence Braddock-Carey syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Braddock-Carey syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3323 Orphanet ID- 2950 EXACT Braddock-Carey syndrome Thymic-renal-anal-lung dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2951 OMIM:274265 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 Thyrocerebrorenal syndrome Cutler-Bass-Romshe syndrome Cutler-Bass-Romshe syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327 OMIM:274240 Orphanet ID- 2952 EXACT Cutler-Bass-Romshe syndrome Absent tibia - polydactyly - arachnoid cyst Holmes-Collins syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 Holmes-Collins syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 2953 OMIM:601027 EXACT Holmes-Collins syndrome Tibial aplasia - ectrodactyly Aplasia of tibia with split-hand/split-foot deformity SHFLD syndrome SHFM associated with aplasia of long bones Split hand/foot malformation with long bone deficiency Split-hand/foot malformation associated with aplasia of long bones TH-SHFM Tibial hemimelia with split hand/foot malformation Tibial hemimelia-ectrodactyly syndrome Tibial hemimelia-ectrodactyly syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 OMIM:119100 Orphanet ID- 2954 Aplasia of tibia with split-hand/split-foot deformity Tibial hemimelia with split hand/foot malformation SHFM associated with aplasia of long bones Split-hand/foot malformation associated with aplasia of long bones prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; SHFLD syndrome Gene [OrphaNum:292035 ; Name:Basic helix-loop-helix family, member a9 ; Symbol:BHLHA9 ; xref: HGNC:35126 ; xref: UNIPROTKB/SWISSPROT:Q7RTU4 ; xref: ENSEMBL:ENSG00000205899] Split hand/foot malformation with long bone deficiency OMIM:612576 TH-SHFM OMIM:610685 EXACT SHFLD syndrome EXACT TH-SHFM EXACT Tibial hemimelia-ectrodactyly syndrome EXACT Tibial hemimelia with split hand/foot malformation EXACT SHFM associated with aplasia of long bones EXACT Split-hand/foot malformation associated with aplasia of long bones EXACT Split hand/foot malformation with long bone deficiency EXACT Aplasia of tibia with split-hand/split-foot deformity Hypoplastic tibiae - post axial polydactyly Orphanet ID- 2956 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:188770 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3332 ICD10:Q74.2 Toriello-Carey syndrome Corpus callosum agenesis - blepharophimosis - Robin sequence OMIM:217980 Corpus callosum agenesis - blepharophimosis - Robin sequence Orphanet ID- 2961 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Corpus callosum agenesis - blepharophimosis - Robin sequence Toriello-Lacassie-Droste syndrome Aplasia cutis congenita - epibulbar dermoids Oculoectodermal syndrome Aplasia cutis congenita - epibulbar dermoids Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Oculoectodermal syndrome Orphanet ID- 2962 OMIM:600268 EXACT Oculoectodermal syndrome EXACT Aplasia cutis congenita - epibulbar dermoids Torticollis - keloids - cryptorchidism - renal dysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341 Orphanet ID- 2964 OMIM:314300 Arterial tortuosity syndrome ATS Gene [OrphaNum:118825 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 10 ; Symbol:SLC2A10 ; xref: GENATLAS:SLC2A10 ; xref: HGNC:13444 ; xref: OMIM:606145 ; xref: UNIPROTKB/SWISSPROT:O95528 ; xref: ENSEMBL:ENSG00000197496 ; xref: REACTOME:O95528] ATS ICD10:Q27.8 Orphanet ID- 2965 OMIM:208050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT ATS Weismann-Netter syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344 OMIM:112350 ICD10:Q77.8 Orphanet ID- 2966 Trichodental syndrome Kersey syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:601453 Kersey syndrome Orphanet ID- 2970 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 EXACT Kersey syndrome Tricho-dento-osseous syndrome TDO syndrome OMIM:190320 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 Orphanet ID- 2971 Gene [OrphaNum:121113 ; Name:Distal-less homeobox 3 ; Symbol:DLX3 ; xref: GENATLAS:DLX3 ; xref: HGNC:2916 ; xref: OMIM:600525 ; xref: UNIPROTKB/SWISSPROT:O60479 ; xref: ENSEMBL:ENSG00000064195] TDO syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; EXACT TDO syndrome Trichodermodysplasia - dental alterations Pinheiro-Freire Maia-Miranda syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 Pinheiro-Freire Maia-Miranda syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2972 EXACT Pinheiro-Freire Maia-Miranda syndrome Tricho-oculo-dermo-vertebral syndrome Alves-dos Santos-Castelo syndrome Ectodermal dysplasia - cataracts - kyphoscoliosis Alves-dos Santos-Castelo syndrome OMIM:601701 Ectodermal dysplasia - cataracts - kyphoscoliosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 2973 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3354 EXACT Alves-dos Santos-Castelo syndrome EXACT Ectodermal dysplasia - cataracts - kyphoscoliosis Tricho-odonto-onychial dysplasia Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region Orphanet ID- 2974 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:275450 Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region EXACT Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region Tricho-odonto-onycho-dermal syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3356 Orphanet ID- 2975 Tricho-odonto-onychodysplasia - dominant syndactyly Trueb-Burg-Bottani syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3357 Orphanet ID- 2976 Trueb-Burg-Bottani syndrome EXACT Trueb-Burg-Bottani syndrome Trichodysplasia - xeroderma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2979 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361 OMIM:190360 Trichomegaly - cataract - hereditary spherocytosis Goldstein-Hutt syndrome Goldstein-Hutt syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3362 Orphanet ID- 2980 ICD10:Q87.8 OMIM:190330 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Goldstein-Hutt syndrome Trichomegaly - retina pigmentary degeneration - dwarfism Long eyelashes - intellectual deficit Oliver-McFarlane syndrome Long eyelashes - intellectual deficit Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 Oliver-McFarlane syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:275400 Orphanet ID- 2981 EXACT Long eyelashes - intellectual deficit EXACT Oliver-McFarlane syndrome Trigonocephaly - broad thumbs Hunter-Rudd-Hoffmann syndrome Orphanet ID- 2982 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Hunter-Rudd-Hoffmann syndrome EXACT Hunter-Rudd-Hoffmann syndrome Isolated trigonocephaly Nonsyndromic metopic craniosynostosis OMIM:614485 Orphanet ID- 2983 OMIM:190440 Nonsyndromic metopic craniosynostosis Gene [OrphaNum:121802 ; Name:Fibroblast growth factor receptor 1 ; Symbol:FGFR1 ; xref: GENATLAS:FGFR1 ; xref: HGNC:3688 ; xref: OMIM:136350 ; xref: UNIPROTKB/SWISSPROT:P11362 ; xref: ENSEMBL:ENSG00000077782 ; xref: REACTOME:P11362] ICD10:Q75.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:220909 ; Name:FRAS1 related extracellular matrix 1 ; Symbol:FREM1 ; xref: ENSEMBL:ENSG00000164946 ; xref: GENATLAS:FREM1 ; xref: HGNC:23399 ; xref: OMIM:608944 ; xref: UNIPROTKB/SWISSPROT:Q5H8C1] EXACT Nonsyndromic metopic craniosynostosis Trigonocephaly - bifid nose - acral anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368 Orphanet ID- 2985 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; OMIM:275595 Trigonocephaly - short stature - developmental delay Say-Meyer syndrome Orphanet ID- 2986 Say-Meyer syndrome OMIM:314320 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- Unknown; EXACT Say-Meyer syndrome Cornelia de Lange syndrome Brachmann-de Lange syndrome OMIM:610759 OMIM:300590 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- X-linked recessive; OMIM:122470 Brachmann-de Lange syndrome Gene [OrphaNum:119743 ; Name:Structural maintenance of chromosomes 1A ; Symbol:SMC1A ; xref: GENATLAS:SMC1A ; xref: HGNC:11111 ; xref: OMIM:300040 ; xref: UNIPROTKB/SWISSPROT:Q14683 ; xref: ENSEMBL:ENSG00000072501 ; xref: REACTOME:Q14683] Gene [OrphaNum:138480 ; Name:Structural maintenance of chromosomes 3 ; Symbol:SMC3 ; xref: GENATLAS:SMC3 ; xref: HGNC:2468 ; xref: OMIM:606062 ; xref: UNIPROTKB/SWISSPROT:Q9UQE7 ; xref: REACTOME:Q9UQE7 ; xref: ENSEMBL:ENSG00000108055] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 Orphanet ID- 299 Gene [OrphaNum:123789 ; Name:Nipped-B homolog (Drosophila) ; Symbol:NIPBL ; xref: GENATLAS:NIPBL ; xref: HGNC:28862 ; xref: OMIM:608667 ; xref: UNIPROTKB/SWISSPROT:Q6KC79 ; xref: ENSEMBL:ENSG00000164190] Gene [OrphaNum:304234 ; Name:RAD21 homolog (S. pombe) ; Symbol:RAD21 ; xref: HGNC:9811 ; xref: OMIM:606462 ; xref: GENATLAS:RAD21 ; xref: UNIPROTKB/SWISSPROT:O60216] Gene [OrphaNum:290272 ; Name:Histone deacetylase 8 ; Symbol:HDAC8 ; xref: GENATLAS:HDAC8 ; xref: ENSEMBL:ENSG00000147099 ; xref: HGNC:13315 ; xref: OMIM:300269 ; xref: UNIPROTKB/SWISSPROT:Q9BY41 ; xref: REACTOME:Q9BY41] OMIM:614701 ICD10:Q87.1 EXACT Brachmann-de Lange syndrome Trismus - pseudocamptodactyly Distal arthrogryposis type 7 Hecht syndrome Orphanet ID- 2990 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:Q68.1 ICD10:M24.5 Hecht syndrome Distal arthrogryposis type 7 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377 Gene [OrphaNum:123626 ; Name:Myosin, heavy chain 8, skeletal muscle, perinatal ; Symbol:MYH8 ; xref: GENATLAS:MYH8 ; xref: HGNC:7578 ; xref: OMIM:160741 ; xref: UNIPROTKB/SWISSPROT:P13535 ; xref: REACTOME:P13535 ; xref: ENSEMBL:ENSG00000133020] OMIM:158300 EXACT Hecht syndrome EXACT Distal arthrogryposis type 7 Distal trisomy 19q Distal duplication 19q Telomeric duplication 19q Trisomy 19qter Trisomy 19qter Distal duplication 19q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric duplication 19q ICD10:Q92.3 Orphanet ID- 2991 EXACT Distal duplication 19q EXACT Trisomy 19qter EXACT Telomeric duplication 19q Mosaic trisomy 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 2992 Mosaic trisomy 20 Orphanet ID- 2993 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724 Mosaic trisomy 7 Orphanet ID- 2994 ICD10:Q92.1 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747 Humerus trochlea aplasia Orphanet ID- 2996 OMIM:191000 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383 Isolated anterior cervical hypertrichosis Hairy throat syndrome Tsukahara-Kajii syndrome Orphanet ID- 2998 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Tsukahara-Kajii syndrome Hairy throat syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387 OMIM:600457 EXACT Tsukahara-Kajii syndrome EXACT Hairy throat syndrome Neural tube defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388 Orphanet ID- 2999 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Alpha-mannosidosis Lysosomal alpha-D-mannosidase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Lysosomal alpha-D-mannosidase deficiency Orphanet ID- 3 Gene [OrphaNum:123328 ; Name:Mannosidase, alpha, class 2B, member 1 ; Symbol:MAN2B1 ; xref: GENATLAS:MAN2B1 ; xref: HGNC:6826 ; xref: OMIM:609458 ; xref: UNIPROTKB/SWISSPROT:O00754 ; xref: ENSEMBL:ENSG00000104774] OMIM:248500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 ICD10:E77.1 EXACT Lysosomal alpha-D-mannosidase deficiency Niemann-Pick disease Sphingomyelinase deficiency Sphingomyelinase deficiency ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645 Orphanet ID- 30 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Sphingomyelinase deficiency Odonto-onycho-hypohidrotic dysplasia - midline scalp defects Ectodermal dysplasia - adrenal cyst Tuffli-Laxova syndrome Orphanet ID- 3000 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3391 Ectodermal dysplasia - adrenal cyst Tuffli-Laxova syndrome EXACT Tuffli-Laxova syndrome EXACT Ectodermal dysplasia - adrenal cyst Ulbright-Hodes syndrome Renal dysplasia - limb defects Renal dysplasia - mesomelia - radiohumeral fusion OMIM:266910 Renal dysplasia - mesomelia - radiohumeral fusion Orphanet ID- 3002 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 Renal dysplasia - limb defects prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; EXACT Renal dysplasia - limb defects EXACT Renal dysplasia - mesomelia - radiohumeral fusion Upington disease Hip dysplasia - enchondromata - ecchondroma ICD10:M91.8 Orphanet ID- 3004 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408 Hip dysplasia - enchondromata - ecchondroma prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:191520 EXACT Hip dysplasia - enchondromata - ecchondroma Urban-Rogers-Meyer syndrome Intellectual deficit - short stature - hand contractures - genital anomalies Prader-Willi habitus - osteopenia - camptodactyly Orphanet ID- 3005 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409 Prader-Willi habitus - osteopenia - camptodactyly Intellectual deficit - short stature - hand contractures - genital anomalies prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:264010 EXACT Prader-Willi habitus - osteopenia - camptodactyly EXACT Intellectual deficit - short stature - hand contractures - genital anomalies VACTERL with hydrocephalus Sujansky-Leonard syndrome OMIM:314390 Sujansky-Leonard syndrome Gene [OrphaNum:121700 ; Name:Fanconi anemia, complementation group B ; Symbol:FANCB ; xref: GENATLAS:FANCB ; xref: HGNC:3583 ; xref: OMIM:300515 ; xref: UNIPROTKB/SWISSPROT:Q8NB91 ; xref: REACTOME:Q8NB91 ; xref: ENSEMBL:ENSG00000181544] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; OMIM:276950 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 Orphanet ID- 3007 EXACT Sujansky-Leonard syndrome Holoprosencephaly HPE OMIM:142945 OMIM:142946 OMIM:612530 Orphanet ID- 301 OMIM:614226 ICD10:Q04.2 OMIM:609408 OMIM:157170 OMIM:236100 OMIM:609637 OMIM:610829 OMIM:610828 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 OMIM:605934 HPE prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; EXACT HPE Hyperostosis corticalis generalisata Van Buchem disease OMIM:239100 Van Buchem disease Orphanet ID- 3010 Gene [OrphaNum:123115 ; Name:Low density lipoprotein receptor-related protein 5 ; Symbol:LRP5 ; xref: UNIPROTKB/SWISSPROT:O75197 ; xref: GENATLAS:LRP5 ; xref: HGNC:6697 ; xref: OMIM:603506 ; xref: ENSEMBL:ENSG00000162337] Gene [OrphaNum:123431 ; Name:Sclerosteosis gene ; Symbol:SOST ; xref: GENATLAS:SOST ; xref: HGNC:13771 ; xref: OMIM:605740 ; xref: UNIPROTKB/SWISSPROT:Q9BQB4 ; xref: ENSEMBL:ENSG00000167941] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 ICD10:M85.2 OMIM:607636 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Van Buchem disease Van den Ende-Gupta syndrome Marden-Walker-like syndrome VDEGS Orphanet ID- 3011 OMIM:600920 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Marden-Walker-like syndrome VDEGS Gene [OrphaNum:244390 ; Name:Scavenger receptor class F, member 2 ; Symbol:SCARF2 ; xref: GENATLAS:SCARF2 ; xref: HGNC:19869 ; xref: OMIM:613619 ; xref: UNIPROTKB/SWISSPROT:Q96GP6 ; xref: ENSEMBL:ENSG00000244486] EXACT VDEGS EXACT Marden-Walker-like syndrome Van den Bosch syndrome OMIM:314500 Orphanet ID- 3012 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-null; Inheritance- X-linked recessive; Cerebroretinal vasculopathy CRV Grand-Kaine-Fulling syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3421 Gene [OrphaNum:120255 ; Name:Three prime repair exonuclease 1 ; Symbol:TREX1 ; xref: GENATLAS:TREX1 ; xref: HGNC:12269 ; xref: OMIM:606609 ; xref: UNIPROTKB/SWISSPROT:Q9NSU2 ; xref: ENSEMBL:ENSG00000213689] Grand-Kaine-Fulling syndrome CRV OMIM:192315 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 3015 EXACT Grand-Kaine-Fulling syndrome EXACT CRV Vasquez-Hurst-Sotos syndrome Hypogonadism - gynecomastia - X-linked intellectual deficit Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] Hypogonadism - gynecomastia - X-linked intellectual deficit Orphanet ID- 3016 OMIM:309580 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3423 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Hypogonadism - gynecomastia - X-linked intellectual deficit Velo-facial-skeletal syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:600736 Orphanet ID- 3017 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 Verloove Vanhorick-Brubakk syndrome Cleft-Limb-Heart malformation syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:215850 Cleft-Limb-Heart malformation syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 Orphanet ID- 3020 EXACT Cleft-Limb-Heart malformation syndrome Microcephaly - brachydactyly - kyphoscoliosis Viljoen-Kallis-Voges syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3023 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 Viljoen-Kallis-Voges syndrome EXACT Viljoen-Kallis-Voges syndrome MMEP syndrome MCOPS8 Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism Syndromic microphthalmia type 8 Viljoen-Smart syndrome MCOPS8 ICD10:Q11.2 Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 OMIM:601349 Gene [OrphaNum:119773 ; Name:Sorting nexin 3 ; Symbol:SNX3 ; xref: GENATLAS:SNX3 ; xref: HGNC:11174 ; xref: OMIM:605930 ; xref: UNIPROTKB/SWISSPROT:O60493 ; xref: ENSEMBL:ENSG00000112335] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Syndromic microphthalmia type 8 Orphanet ID- 3024 Viljoen-Smart syndrome EXACT Syndromic microphthalmia type 8 EXACT Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism EXACT Viljoen-Smart syndrome EXACT MCOPS8 Albinism-deafness syndrome ICD10:H90.5 Orphanet ID- 303 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; OMIM:300700 Weaver-Williams syndrome Orphanet ID- 3032 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 Weill-Marchesani syndrome Spherophakia - brachymorphia OMIM:613195 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Spherophakia - brachymorphia Orphanet ID- 3033 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 Gene [OrphaNum:304263 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 17 ; Symbol:ADAMTS17 ; xref: HGNC:17109 ; xref: OMIM:607511 ; xref: GENATLAS:ADAMTS17 ; xref: UNIPROTKB/SWISSPROT:Q8TE56] ICD10:Q87.0 OMIM:608328 OMIM:277600 Gene [OrphaNum:117773 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 10 ; Symbol:ADAMTS10 ; xref: GENATLAS:ADAMTS10 ; xref: HGNC:13201 ; xref: OMIM:608990 ; xref: UNIPROTKB/SWISSPROT:Q9H324 ; xref: ENSEMBL:ENSG00000142303] Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] EXACT Spherophakia - brachymorphia Weissenbacher- Zweymuller syndrome Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia Pierre Robin sequence - fetal chondrodysplasia Pierre Robin syndrome - fetal chondrodysplasia Heterozygous otospondylomegaepiphyseal dysplasia Orphanet ID- 3034 Gene [OrphaNum:120693 ; Name:Collagen, type XI, alpha 2 ; Symbol:COL11A2 ; xref: GENATLAS:COL11A2 ; xref: HGNC:2187 ; xref: OMIM:120290 ; xref: UNIPROTKB/SWISSPROT:P13942 ; xref: ENSEMBL:ENSG00000204248] Pierre Robin sequence - fetal chondrodysplasia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Heterozygous OSMED Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3450 Pierre Robin syndrome - fetal chondrodysplasia ICD10:Q77.7 OMIM:277610 EXACT Pierre Robin syndrome - fetal chondrodysplasia EXACT Heterozygous OSMED EXACT Pierre Robin sequence - fetal chondrodysplasia EXACT Heterozygous otospondylomegaepiphyseal dysplasia Autoimmune polyendocrinopathy type 1 APECED syndrome APS1 Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome Autoimmune polyglandular syndrome type 1 HAM syndrome Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis Hypoparathyroidism - Addison's disease - mucocutaneous candidosis MEDAC syndrome Multiple endocrine deficiency - Addison's disease - candidiasis Multiple endocrine deficiency - Addison's disease - candidosis MEDAC syndrome Multiple endocrine deficiency - Addison's disease - candidiasis Autoimmune polyendocrine syndrome type 1 HAM syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal recessive; Orphanet ID- 3035 Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome OMIM:240300 Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease Multiple endocrine deficiency - Addison's disease - candidosis Hypoparathyroidism - Addison's disease - mucocutaneous candidosis ICD10:E31.0 Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 APECED syndrome Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease Autoimmune polyglandular syndrome type 1 APS1 Gene [OrphaNum:119562 ; Name:Autoimmune regulator ; Symbol:AIRE ; xref: ENSEMBL:ENSG00000160224 ; xref: GENATLAS:AIRE ; xref: HGNC:360 ; xref: OMIM:607358 ; xref: UNIPROTKB/SWISSPROT:O43918] Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis EXACT Multiple endocrine deficiency - Addison's disease - candidiasis EXACT Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis EXACT APECED syndrome EXACT Autoimmune polyglandular syndrome type 1 EXACT Hypoparathyroidism - Addison's disease - mucocutaneous candidosis EXACT HAM syndrome EXACT MEDAC syndrome EXACT Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease EXACT Multiple endocrine deficiency - Addison's disease - candidosis EXACT APS1 EXACT Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome EXACT Autoimmune polyendocrine syndrome type 1 EXACT Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease EXACT Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome Wieacker-Wolff syndrome Contractures of feet-muscle atrophy-oculomotor apraxia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 ICD10:Q87.2 OMIM:314580 Orphanet ID- 3036 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- X-linked recessive; ICD10:Q66 Contractures of feet-muscle atrophy-oculomotor apraxia Gene [OrphaNum:132296 ; Name:Wieacker-Wolff syndrome gene ; Symbol:WWS ; xref: GENATLAS:WWS ; xref: HGNC:12800] EXACT Contractures of feet-muscle atrophy-oculomotor apraxia Wiedemann-Rautenstrauch syndrome Neonatal progeroid syndrome OMIM:264090 ICD10:E34.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 Orphanet ID- 3037 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Neonatal progeroid syndrome EXACT Neonatal progeroid syndrome Wildervanck syndrome Cervico-oculo-acoustic syndrome ICD10:Q87.8 OMIM:314600 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456 Orphanet ID- 3038 Cervico-oculo-acoustic syndrome EXACT Cervico-oculo-acoustic syndrome Ermine phenotype O'Doherty syndrome Pigmentary disorder with hearing loss O'Doherty syndrome Pigmentary disorder with hearing loss prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:227010 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999 Orphanet ID- 304 ICD10:E70.3 ICD10:H90.5 EXACT Pigmentary disorder with hearing loss EXACT O'Doherty syndrome Wilms tumor - radial bilateral aplasia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:C64 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3458 Orphanet ID- 3040 Wilson-Turner syndrome X-linked intellectual deficit - gynecomastia - obesity X-linked intellectual deficit - gynecomastia - obesity prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 Orphanet ID- 3041 OMIM:309585 EXACT X-linked intellectual deficit - gynecomastia - obesity Torg-Winchester syndrome Winchester syndrome Orphanet ID- 3042 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:259600 Winchester syndrome Gene [OrphaNum:123439 ; Name:Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) ; Symbol:MMP2 ; xref: GENATLAS:MMP2 ; xref: HGNC:7166 ; xref: OMIM:120360 ; xref: UNIPROTKB/SWISSPROT:P08253 ; xref: ENSEMBL:ENSG00000087245 ; xref: REACTOME:P08253] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3460 EXACT Winchester syndrome Woodhouse-Sakati syndrome Diabetes - hypogonadism - deafness - intellectual deficit Gene [OrphaNum:171038 ; Name:DDB1 and CUL4 associated factor 17 ; Symbol:DCAF17 ; xref: GENATLAS:C2orf37 ; xref: HGNC:25784 ; xref: OMIM:612515 ; xref: UNIPROTKB/SWISSPROT:Q5H9S7 ; xref: ENSEMBL:ENSG00000115827] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Diabetes - hypogonadism - deafness - intellectual deficit OMIM:241080 Orphanet ID- 3045 EXACT Diabetes - hypogonadism - deafness - intellectual deficit WT limb-blood syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; ICD10:D61.0 OMIM:194350 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 Orphanet ID- 3047 Xeroderma - talipes - enamel defects Orphanet ID- 3048 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3468 Ocular albinism - late-onset sensorineural deafness Orphanet ID- 305 OMIM:300650 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 ICD10:H90.5 ICD10:E70.3 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- X-linked recessive; Young syndrome Azoospermia - sinopulmonary infections Azoospermia - sinopulmonary infections Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 3050 OMIM:279000 EXACT Azoospermia - sinopulmonary infections Yunis-Varon syndrome Cleidocranial dysplasia - micrognathia - absent thumbs OMIM:216340 Orphanet ID- 3051 ICD10:Q87.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; Cleidocranial dysplasia - micrognathia - absent thumbs Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 EXACT Cleidocranial dysplasia - micrognathia - absent thumbs Zimmermann-Laband syndrome Gingival fibromatosis - hepatosplenomegaly - other anomalies Laband syndrome Orphanet ID- 3052 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 OMIM:135500 Laband syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Gingival fibromatosis - hepatosplenomegaly - other anomalies ICD10:Q87.8 EXACT Laband syndrome EXACT Gingival fibromatosis - hepatosplenomegaly - other anomalies Congenital amegakaryocytic thrombocytopenia Orphanet ID- 3053 ICD10:D61.0 Gene [OrphaNum:123465 ; Name:Myeloproliferative leukemia virus oncogene ; Symbol:MPL ; xref: GENATLAS:MPL ; xref: HGNC:7217 ; xref: OMIM:159530 ; xref: UNIPROTKB/SWISSPROT:P40238 ; xref: ENSEMBL:ENSG00000117400 ; xref: REACTOME:P40238] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 OMIM:604498 prevalence- No data available; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Acromelic frontonasal dysplasia Toriello syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q75.8 Toriello syndrome OMIM:603671 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 Orphanet ID- 3060 EXACT Toriello syndrome X-linked intellectual deficit - epilepsy Orphanet ID- 3063 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive; Oro-mandibular-limb hypogenesis syndrome Oroacral syndrome Oroacral syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:Q87.5 Orphanet ID- 3064 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 EXACT Oroacral syndrome Iris coloboma with ptosis - intellectual deficit Baraitser-Winter syndrome Gene [OrphaNum:159893 ; Name:Actin, beta ; Symbol:ACTB ; xref: GENATLAS:ACTB ; xref: HGNC:132 ; xref: OMIM:102630 ; xref: UNIPROTKB/SWISSPROT:P60709 ; xref: REACTOME:P60709 ; xref: ENSEMBL:ENSG00000075624] OMIM:243310 ICD10:Q04.3 Orphanet ID- 3066 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 ICD10:Q15.8 Gene [OrphaNum:166815 ; Name:Actin, gamma 1 ; Symbol:ACTG1 ; xref: GENATLAS:ACTG1 ; xref: HGNC:144 ; xref: OMIM:102560 ; xref: UNIPROTKB/SWISSPROT:P63261 ; xref: REACTOME:P63261 ; xref: ENSEMBL:ENSG00000184009] OMIM:614583 Baraitser-Winter syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Baraitser-Winter syndrome Symbrachydactyly of hands and feet De Smet-Fabry-Fryns syndrome Orphanet ID- 3071 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570 ICD10:Q74.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; De Smet-Fabry-Fryns syndrome EXACT De Smet-Fabry-Fryns syndrome Short stature - intellectual deficit - eye anomalies - cleft lip/palate Richieri Costa-Guion Almeida syndrome Orphanet ID- 3072 Richieri Costa-Guion Almeida syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; OMIM:608578 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2649 EXACT Richieri Costa-Guion Almeida syndrome Blepharoptosis - cleft palate - ectrodactyly - dental anomalies Rodini-Richieri Costa syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1258 Rodini-Richieri Costa syndrome Orphanet ID- 3073 EXACT Rodini-Richieri Costa syndrome Thoraco-abdominal enteric duplication Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759 Orphanet ID- 3075 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Thyroglossal duct cyst Thyroglossal tract cyst prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Thyroglossal tract cyst Orphanet ID- 3079 ICD10:Q89.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=489 EXACT Thyroglossal tract cyst Brachydactyly - mesomelia - intellectual deficit - heart defects Stratton-Garcia-Young syndrome Stratton-Garcia-Young syndrome Orphanet ID- 3080 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277 EXACT Stratton-Garcia-Young syndrome Facial dysmorphism - shawl scrotum - joint laxity Seaver-Cassidy syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3086 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778 Seaver-Cassidy syndrome EXACT Seaver-Cassidy syndrome Intellectual deficit - short stature - hypertelorism Stoll-Géraudel-Chauvin syndrome Orphanet ID- 3087 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Stoll-Géraudel-Chauvin syndrome EXACT Stoll-Géraudel-Chauvin syndrome Siegler-Brewer-Carey syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 3091 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167 Cholestasis - pigmentary retinopathy - cleft palate Hardikar syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; OMIM:612726 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 Hardikar syndrome Orphanet ID- 3096 EXACT Hardikar syndrome Hirschsprung disease - ganglioneuroblastoma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 Orphanet ID- 3101 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2653 Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa Orphanet ID- 3103 EXACT Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa Microcephaly - seizures - intellectual deficit - heart disease prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 3106 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 Oculocutaneous albinism OCA ICD10:E70.3 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 311 OCA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 EXACT OCA Mandibulofacial dysostosis - deafness - postaxial polydactyly Opitz-Reynolds-FitzGerald syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2458 Orphanet ID- 3112 Opitz-Reynolds-FitzGerald syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Opitz-Reynolds-FitzGerald syndrome Choroideremia - hypopituitarism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1434 Orphanet ID- 3117 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Adult familial nephronophtisis - spastic quadriparesia Orphanet ID- 3118 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown; Ectopia lentis - chorioretinal dystrophy - myopia Noble-Bass-Sherman syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 Orphanet ID- 3129 Noble-Bass-Sherman syndrome EXACT Noble-Bass-Sherman syndrome Bruck syndrome Osteogenesis imperfecta - congenital joint contractures Gene [OrphaNum:117892 ; Name:Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 ; Symbol:PLOD2 ; xref: GENATLAS:PLOD2 ; xref: HGNC:9082 ; xref: OMIM:601865 ; xref: UNIPROTKB/SWISSPROT:O00469 ; xref: ENSEMBL:ENSG00000152952] Osteogenesis imperfecta - congenital joint contractures OMIM:609220 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:M21.8 OMIM:259450 Gene [OrphaNum:233035 ; Name:FK506 binding protein 10, 65 kDa ; Symbol:FKBP10 ; xref: ENSEMBL:ENSG00000141756 ; xref: HGNC:18169 ; xref: GENATLAS:FKBP10 ; xref: UNIPROTKB/SWISSPROT:Q96AY3 ; xref: OMIM:607063] Orphanet ID- 313 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 EXACT Osteogenesis imperfecta - congenital joint contractures Umbilical cord ulceration - intestinal atresia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405 Orphanet ID- 3130 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Pontocerebellar hypoplasia type 1 OMIM:607596 Gene [OrphaNum:208345 ; Name:Vaccinia related kinase 1 ; Symbol:VRK1 ; xref: ENSEMBL:ENSG00000100749 ; xref: HGNC:12718 ; xref: OMIM:602168 ; xref: GENATLAS:VRK1 ; xref: UNIPROTKB/SWISSPROT:Q99986] Gene [OrphaNum:303747 ; Name:Exosome component 3 ; Symbol:EXOSC3 ; xref: UNIPROTKB/SWISSPROT:Q9NQT5 ; xref: HGNC:17944 ; xref: OMIM:606489 ; xref: GENATLAS:EXOSC3] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 OMIM:614678 ICD10:Q04.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3132 Lethal recessive chondrodysplasia Maroteaux-Stanescu-Cousin syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q78.8 Maroteaux-Stanescu-Cousin syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423 Orphanet ID- 3136 EXACT Maroteaux-Stanescu-Cousin syndrome Hydrocephalus - obesity - hypogonadism Sengers-Hamel-Otten syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 Sengers-Hamel-Otten syndrome Orphanet ID- 3137 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Sengers-Hamel-Otten syndrome Muscular pseudohypertrophy - hypothyroidism Hoffman's syndrome Kocher-Debre-Semelaigne syndrome ICD10:E03.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349 Hoffman's syndrome Orphanet ID- 3143 Kocher-Debre-Semelaigne syndrome prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; EXACT Kocher-Debre-Semelaigne syndrome EXACT Hoffman's syndrome Intellectual deficit, X-linked - plagiocephaly Hyde Forster-McCarthy-Berry syndrome OMIM:300064 Orphanet ID- 3144 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 Hyde Forster-McCarthy-Berry syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; EXACT Hyde Forster-McCarthy-Berry syndrome Progressive non-infectious anterior vertebral fusion Copenhagen syndrome Orphanet ID- 3148 Copenhagen syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; EXACT Copenhagen syndrome Cleft palate - short stature - vertebral anomalies Mathieu-De Broca-Bony syndrome Mathieu-De Broca-Bony syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 3149 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 EXACT Mathieu-De Broca-Bony syndrome Cardiomyopathy - maternally inherited deafness tRNA-LYS-related cardiomyopathy - hearing loss ICD10:I42.8 Orphanet ID- 315 tRNA-LYS-related cardiomyopathy - hearing loss Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 OMIM:590060 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:138900 ; Name:Mitochondrially encoded tRNA lysine ; Symbol:MT-TK ; xref: GENATLAS:MT-TK ; xref: HGNC:7489 ; xref: OMIM:590060] EXACT tRNA-LYS-related cardiomyopathy - hearing loss Macrocephaly - short stature - paraplegia Volcke-Soekarman syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 Orphanet ID- 3150 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Unknown; Volcke-Soekarman syndrome EXACT Volcke-Soekarman syndrome Atherosclerosis- deafness - diabetes - epilepsy - nephropathy Feigenbaum-Bergeron-Richardson syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 Orphanet ID- 3154 Feigenbaum-Bergeron-Richardson syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:209010 EXACT Feigenbaum-Bergeron-Richardson syndrome Microgastria - limb reduction defect Orphanet ID- 3155 OMIM:156810 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 Succinic acidemia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 3156 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=936 OMIM:600335 White matter hypoplasia - corpus callosum agenesis - intellectual deficit Curatolo-Cilio-Pessagno syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Curatolo-Cilio-Pessagno syndrome Orphanet ID- 3157 EXACT Curatolo-Cilio-Pessagno syndrome Arachnodactyly - intellectual deficit - dysmorphism de Die Smulders-Vles-Fryns syndrome de Die Smulders-Vles-Fryns syndrome Orphanet ID- 3161 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 EXACT de Die Smulders-Vles-Fryns syndrome Atypical Rett syndrome Atypical RTT Rett syndrome variant Rett syndrome variant Gene [OrphaNum:167854 ; Name:Forkhead box G1 ; Symbol:FOXG1 ; xref: GENATLAS:FOXG1 ; xref: HGNC:3811 ; xref: OMIM:164874 ; xref: UNIPROTKB/SWISSPROT:P55316 ; xref: ENSEMBL:ENSG00000176165] Gene [OrphaNum:119297 ; Name:Cyclin-dependent kinase-like 5 ; Symbol:CDKL5 ; xref: HGNC:11411 ; xref: OMIM:300203 ; xref: UNIPROTKB/SWISSPROT:O76039 ; xref: GENATLAS:CDKL5 ; xref: ENSEMBL:ENSG00000008086] OMIM:300672 Gene [OrphaNum:179408 ; Name:Netrin G1 ; Symbol:NTNG1 ; xref: HGNC:23319 ; xref: OMIM:608818 ; xref: GENATLAS:NTNG1 ; xref: UNIPROTKB/SWISSPROT:Q9Y2I2 ; xref: ENSEMBL:ENSG00000162631] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 Gene [OrphaNum:123186 ; Name:Methyl CpG binding protein 2 (Rett syndrome) ; Symbol:MECP2 ; xref: GENATLAS:MECP2 ; xref: HGNC:6990 ; xref: OMIM:300005 ; xref: UNIPROTKB/SWISSPROT:P51608 ; xref: ENSEMBL:ENSG00000169057] prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- X-linked dominant; OMIM:613454 Atypical RTT Orphanet ID- 3164 OMIM:312750 EXACT Atypical RTT EXACT Rett syndrome variant Oral-facial-digital syndrome type 10 Figuera syndrome OFD10 Orofaciodigital syndrome type 10 Orofaciodigital syndrome with fibular aplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2756 Orofaciodigital syndrome type 10 Orofaciodigital syndrome with fibular aplasia ICD10:Q87.0 OMIM:165590 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 3165 Figuera syndrome OFD10 EXACT OFD10 EXACT Orofaciodigital syndrome with fibular aplasia EXACT Figuera syndrome EXACT Orofaciodigital syndrome type 10 Kallmann syndrome - heart disease prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q24.9 Orphanet ID- 3167 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 ICD10:E23.0 Craniosynostosis, Boston type Craniosynostosis, Warman type Warman-Mulliken-Hayward syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 Warman-Mulliken-Hayward syndrome Craniosynostosis, Warman type OMIM:604757 Gene [OrphaNum:123500 ; Name:Msh homeobox 2 ; Symbol:MSX2 ; xref: GENATLAS:MSX2 ; xref: HGNC:7392 ; xref: OMIM:123101 ; xref: UNIPROTKB/SWISSPROT:P35548 ; xref: ENSEMBL:ENSG00000120149] Orphanet ID- 3169 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:Q75.8 EXACT Craniosynostosis, Warman type EXACT Warman-Mulliken-Hayward syndrome Brachydactylous dwarfism, Mseleni type MJD Mseleni joint disease ICD10:Q77.7 Orphanet ID- 3171 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619 Mseleni joint disease prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Unknown; MJD OMIM:613342 EXACT Mseleni joint disease EXACT MJD Progeroid syndrome, Petty type Petty-Laxova-Wiedemann syndrome Petty-Laxova-Wiedemann syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:612289 Orphanet ID- 3173 EXACT Petty-Laxova-Wiedemann syndrome Familial caudal dysgenesis Rudd-Klimek syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 OMIM:600145 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Gene [OrphaNum:138557 ; Name:Vang-like 1 (van gogh, Drosophila) ; Symbol:VANGL1 ; xref: ENSEMBL:ENSG00000173218 ; xref: GENATLAS:VANGL1 ; xref: HGNC:15512 ; xref: OMIM:610132 ; xref: UNIPROTKB/SWISSPROT:Q8TAA9] Rudd-Klimek syndrome Orphanet ID- 3174 EXACT Rudd-Klimek syndrome Dysplastic cortical hyperostosis Kozlowski-Tsuruta syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Kozlowski-Tsuruta syndrome Orphanet ID- 3175 EXACT Kozlowski-Tsuruta syndrome Overgrowth - craniosynostosis - arthrogryposis Richieri Costa-Guion Almeida-Cohen syndrome Richieri Costa-Guion Almeida-Cohen syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3179 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2096 EXACT Richieri Costa-Guion Almeida-Cohen syndrome Arrhinia Nose agenesis Nose agenesis Orphanet ID- 3181 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q30.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 EXACT Nose agenesis Arthrogryposis - hyperkeratosis, lethal form Johnston-Aarons-Schelley syndrome Johnston-Aarons-Schelley syndrome Orphanet ID- 3182 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485 OMIM:208158 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Unknown; EXACT Johnston-Aarons-Schelley syndrome Intellectual deficit - sparse hair - brachydactyly Nicolaides-Baraitser syndrome Gene [OrphaNum:292297 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ; Symbol:SMARCA2 ; xref: GENATLAS:SMARCA2 ; xref: UNIPROTKB/SWISSPROT:P51531 ; xref: HGNC:11098 ; xref: OMIM:600014] Nicolaides-Baraitser syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3183 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 OMIM:601358 EXACT Nicolaides-Baraitser syndrome Bowed tibiae - radial anomalies - osteopenia - fractures Chitty-Hall-Webb syndrome Orphanet ID- 3184 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3331 Chitty-Hall-Webb syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Chitty-Hall-Webb syndrome Fine-Lubinsky syndrome Brachycephaly - deafness - cataract - intellectual deficit OMIM:601353 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Brachycephaly - deafness - cataract - intellectual deficit Orphanet ID- 3187 EXACT Brachycephaly - deafness - cataract - intellectual deficit Dysmorphism - cleft palate - loose skin prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3188 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies Cassia Stocco dos Santos syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101 Orphanet ID- 3191 Cassia Stocco dos Santos syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Cassia Stocco dos Santos syndrome Craniosynostosis - cataract prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1530 Orphanet ID- 3195 Circumscribed cutaneous aplasia of the vertex ACCV Aplasia Cutis Congenita Verticis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ACCV Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 OMIM:107600 Aplasia Cutis Congenita Verticis ICD10:Q84.8 Orphanet ID- 3198 EXACT ACCV EXACT Aplasia Cutis Congenita Verticis Von Voss-Cherstvoy syndrome DK phocomelia syndrome Phocomelia - thrombocytopenia - encephalocele - urogenital malformations prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:223340 Phocomelia - thrombocytopenia - encephalocele - urogenital malformations Orphanet ID- 3200 DK phocomelia syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439 EXACT DK phocomelia syndrome EXACT Phocomelia - thrombocytopenia - encephalocele - urogenital malformations Spinal atrophy - ophthalmoplegia - pyramidal syndrome Hamano-Tsukamoto syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3202 Hamano-Tsukamoto syndrome EXACT Hamano-Tsukamoto syndrome Hypomyelination neuropathy - arthrogryposis Boylan-Dew syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3207 Boylan-Dew syndrome EXACT Boylan-Dew syndrome Methylmalonic aciduria - microcephaly - cataract Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=944 Orphanet ID- 3208 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Coffin-Siris syndrome Gene [OrphaNum:119735 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ; Symbol:SMARCB1 ; xref: GENATLAS:SMARCB1 ; xref: HGNC:11103 ; xref: OMIM:601607 ; xref: UNIPROTKB/SWISSPROT:Q12824 ; xref: ENSEMBL:ENSG00000099956] OMIM:614562 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:293095 ; Name:AT rich interactive domain 1B (SWI1-like) ; Symbol:ARID1B ; xref: HGNC:18040 ; xref: OMIM:614556 ; xref: GENATLAS:ARID1B ; xref: UNIPROTKB/SWISSPROT:Q8NFD5] OMIM:614607 OMIM:614608 OMIM:614609 ICD10:Q84.6 Gene [OrphaNum:293103 ; Name:AT rich interactive domain 1A (SWI-like) ; Symbol:ARID1A ; xref: HGNC:11110 ; xref: OMIM:603024 ; xref: GENATLAS:ARID1A ; xref: UNIPROTKB/SWISSPROT:O14497] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 Gene [OrphaNum:225351 ; Name:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ; Symbol:SMARCA4 ; xref: ENSEMBL:ENSG00000127616 ; xref: HGNC:11100 ; xref: OMIM:603254 ; xref: GENATLAS:SMARCA4 ; xref: UNIPROTKB/SWISSPROT:P51532] Orphanet ID- 321 OMIM:135900 ICD10:Q87.1 Mesomelic dysplasia - skin dimples Kozlowski-Massen syndrome Orphanet ID- 3211 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1835 Kozlowski-Massen syndrome ICD10:Q78.8 EXACT Kozlowski-Massen syndrome Mullerian derivatives - lymphangiectasia - polydactyly prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Unknown; Orphanet ID- 3214 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 OMIM:235255 Rhizomelic dysplasia, Patterson-Lowry type ICD10:Q78.8 Orphanet ID- 3219 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831 OMIM:601438 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Arachnodactyly - abnormal ossification - intellectual deficit Kosztolanyi syndrome Kosztolanyi syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 3221 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 EXACT Kosztolanyi syndrome Cataract - deafness - hypogonadism Schaap-Taylor-Baraitser syndrome Schaap-Taylor-Baraitser syndrome Orphanet ID- 3222 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Schaap-Taylor-Baraitser syndrome Infundibulopelvic stenosis - multicystic kidney Orphanet ID- 3224 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:600989 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1849 Craniomicromelic syndrome Orphanet ID- 3225 OMIM:602558 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524 Caudal appendage - deafness Orphanet ID- 3226 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syngnathia - cleft palate Orphanet ID- 3229 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263 Darier disease Darier-White disease Keratosis follicularis ICD10:Q82.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 Keratosis follicularis Gene [OrphaNum:118844 ; Name:ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 ; Symbol:ATP2A2 ; xref: GENATLAS:ATP2A2 ; xref: HGNC:812 ; xref: OMIM:108740 ; xref: UNIPROTKB/SWISSPROT:P16615 ; xref: ENSEMBL:ENSG00000174437 ; xref: REACTOME:P16615] OMIM:124200 Darier-White disease prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 323 EXACT Darier-White disease EXACT Keratosis follicularis Stuve-Wiedemann syndrome Stuve-Wiedemann dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Stuve-Wiedemann dysplasia OMIM:601559 Orphanet ID- 3233 Gene [OrphaNum:123055 ; Name:Leukemia inhibitory factor receptor alpha ; Symbol:LIFR ; xref: GENATLAS:LIFR ; xref: HGNC:6597 ; xref: OMIM:151443 ; xref: UNIPROTKB/SWISSPROT:P42702 ; xref: ENSEMBL:ENSG00000113594] EXACT Stuve-Wiedemann dysplasia Bone dysplasia, Azouz type ICD10:Q79.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1844 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 3237 Okamoto syndrome Orphanet ID- 3238 OMIM:604916 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2729 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119860 ; Name:Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) ; Symbol:SRD5A2 ; xref: GENATLAS:SRD5A2 ; xref: HGNC:11285 ; xref: OMIM:607306 ; xref: UNIPROTKB/SWISSPROT:P31213 ; xref: REACTOME:P31213 ; xref: ENSEMBL:ENSG00000049319] Orphanet ID- 324 ICD10:Q56.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 OMIM:264600 EXACT Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Leber congenital amaurosis Amaurosis congenita of Leber OMIM:204000 Gene [OrphaNum:123653 ; Name:Myosin VIIA ; Symbol:MYO7A ; xref: GENATLAS:MYO7A ; xref: HGNC:7606 ; xref: OMIM:276903 ; xref: UNIPROTKB/SWISSPROT:Q13402 ; xref: ENSEMBL:ENSG00000137474] Gene [OrphaNum:119632 ; Name:Alstrom syndrome 1 ; Symbol:ALMS1 ; xref: GENATLAS:ALMS1 ; xref: HGNC:428 ; xref: OMIM:606844 ; xref: UNIPROTKB/SWISSPROT:Q8TCU4 ; xref: REACTOME:Q8TCU4 ; xref: ENSEMBL:ENSG00000116127] OMIM:604232 Gene [OrphaNum:118388 ; Name:Retinitis pigmentosa GTPase regulator interacting protein 1 ; Symbol:RPGRIP1 ; xref: GENATLAS:RPGRIP1 ; xref: HGNC:13436 ; xref: OMIM:605446 ; xref: UNIPROTKB/SWISSPROT:Q96KN7 ; xref: ENSEMBL:ENSG00000092200] Gene [OrphaNum:118250 ; Name:Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) ; Symbol:RDH12 ; xref: GENATLAS:RDH12 ; xref: HGNC:19977 ; xref: OMIM:608830 ; xref: UNIPROTKB/SWISSPROT:Q96NR8 ; xref: ENSEMBL:ENSG00000139988] OMIM:610612 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:120671 ; Name:Cyclic nucleotide gated channel alpha 3 ; Symbol:CNGA3 ; xref: ENSEMBL:ENSG00000144191 ; xref: GENATLAS:CNGA3 ; xref: HGNC:2150 ; xref: OMIM:600053 ; xref: UNIPROTKB/SWISSPROT:Q16281 ; xref: IUPHAR:396] OMIM:611755 ICD10:H35.5 Gene [OrphaNum:120822 ; Name:Cone-rod homeobox ; Symbol:CRX ; xref: GENATLAS:CRX ; xref: HGNC:2383 ; xref: OMIM:602225 ; xref: UNIPROTKB/SWISSPROT:O43186 ; xref: ENSEMBL:ENSG00000105392] Amaurosis congenita of Leber OMIM:613843 OMIM:612712 OMIM:204100 Gene [OrphaNum:178826 ; Name:Spermatogenesis associated 7 ; Symbol:SPATA7 ; xref: GENATLAS:SPATA7 ; xref: HGNC:20423 ; xref: OMIM:609868 ; xref: UNIPROTKB/SWISSPROT:Q9P0W8 ; xref: ENSEMBL:ENSG00000042317] Gene [OrphaNum:118376 ; Name:Retinal pigment epithelium-specific protein 65kDa ; Symbol:RPE65 ; xref: GENATLAS:RPE65 ; xref: HGNC:10294 ; xref: OMIM:180069 ; xref: UNIPROTKB/SWISSPROT:Q16518 ; xref: ENSEMBL:ENSG00000116745] Gene [OrphaNum:159740 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 13 ; Symbol:KCNJ13 ; xref: GENATLAS:KCNJ13 ; xref: HGNC:6259 ; xref: OMIM:603208 ; xref: UNIPROTKB/SWISSPROT:O60928 ; xref: IUPHAR:443 ; xref: ENSEMBL:ENSG00000115474] OMIM:608553 Gene [OrphaNum:168360 ; Name:Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) ; Symbol:LRAT ; xref: REACTOME:O95237 ; xref: GENATLAS:LRAT ; xref: HGNC:6685 ; xref: OMIM:604863 ; xref: UNIPROTKB/SWISSPROT:O95237 ; xref: ENSEMBL:ENSG00000121207] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 OMIM:604393 Gene [OrphaNum:122670 ; Name:IQ motif containing B1 ; Symbol:IQCB1 ; xref: GENATLAS:IQCB1 ; xref: HGNC:28949 ; xref: OMIM:609237 ; xref: UNIPROTKB/SWISSPROT:Q15051 ; xref: ENSEMBL:ENSG00000173226] Gene [OrphaNum:120341 ; Name:Tubby like protein 1 ; Symbol:TULP1 ; xref: GENATLAS:TULP1 ; xref: HGNC:12423 ; xref: OMIM:602280 ; xref: UNIPROTKB/SWISSPROT:O00294 ; xref: ENSEMBL:ENSG00000112041] OMIM:613837 Gene [OrphaNum:119343 ; Name:Centrosomal protein 290kDa ; Symbol:CEP290 ; xref: GENATLAS:CEP290 ; xref: HGNC:29021 ; xref: OMIM:610142 ; xref: UNIPROTKB/SWISSPROT:O15078 ; xref: ENSEMBL:ENSG00000198707 ; xref: REACTOME:O15078] OMIM:613835 Orphanet ID- 3243 OMIM:614186 Gene [OrphaNum:120803 ; Name:Crumbs homolog 1 (Drosophila) ; Symbol:CRB1 ; xref: GENATLAS:CRB1 ; xref: HGNC:2343 ; xref: OMIM:604210 ; xref: UNIPROTKB/SWISSPROT:P82279 ; xref: ENSEMBL:ENSG00000134376] OMIM:613341 Gene [OrphaNum:122340 ; Name:Guanylate cyclase 2D, membrane (retina-specific) ; Symbol:GUCY2D ; xref: GENATLAS:GUCY2D ; xref: HGNC:4689 ; xref: OMIM:600179 ; xref: UNIPROTKB/SWISSPROT:Q02846 ; xref: ENSEMBL:ENSG00000132518] OMIM:179900 Gene [OrphaNum:118246 ; Name:Retinal degeneration 3 ; Symbol:RD3 ; xref: GENATLAS:RD3 ; xref: HGNC:19689 ; xref: OMIM:180040 ; xref: UNIPROTKB/SWISSPROT:Q7Z3Z2 ; xref: ENSEMBL:ENSG00000198570] Gene [OrphaNum:122649 ; Name:IMP (inosine monophosphate) dehydrogenase 1 ; Symbol:IMPDH1 ; xref: GENATLAS:IMPDH1 ; xref: HGNC:6052 ; xref: OMIM:146690 ; xref: UNIPROTKB/SWISSPROT:P20839 ; xref: REACTOME:P20839 ; xref: ENSEMBL:ENSG00000106348] OMIM:613826 OMIM:604537 Gene [OrphaNum:119559 ; Name:Aryl hydrocarbon receptor interacting protein-like 1 ; Symbol:AIPL1 ; xref: GENATLAS:AIPL1 ; xref: HGNC:359 ; xref: OMIM:604392 ; xref: UNIPROTKB/SWISSPROT:Q9NZN9 ; xref: ENSEMBL:ENSG00000129221] Gene [OrphaNum:140526 ; Name:Leber congenital amaurosis 5 ; Symbol:LCA5 ; xref: GENATLAS:LCA5 ; xref: HGNC:31923 ; xref: OMIM:611408 ; xref: UNIPROTKB/SWISSPROT:Q86VQ0 ; xref: ENSEMBL:ENSG00000135338] OMIM:613829 EXACT Amaurosis congenita of Leber Bardet-Biedl syndrome BBS OMIM:209900 Gene [OrphaNum:120323 ; Name:Tetratricopeptide repeat domain 8 ; Symbol:TTC8 ; xref: GENATLAS:TTC8 ; xref: HGNC:20087 ; xref: OMIM:608132 ; xref: UNIPROTKB/SWISSPROT:Q8TAM2 ; xref: ENSEMBL:ENSG00000165533] Gene [OrphaNum:118987 ; Name:Bardet-Biedl syndrome 5 ; Symbol:BBS5 ; xref: GENATLAS:BBS5 ; xref: HGNC:970 ; xref: OMIM:603650 ; xref: UNIPROTKB/SWISSPROT:Q8N3I7 ; xref: ENSEMBL:ENSG00000163093] Gene [OrphaNum:118982 ; Name:Bardet-Biedl syndrome 2 ; Symbol:BBS2 ; xref: GENATLAS:BBS2 ; xref: HGNC:967 ; xref: OMIM:606151 ; xref: UNIPROTKB/SWISSPROT:Q9BXC9 ; xref: ENSEMBL:ENSG00000125124] Gene [OrphaNum:120273 ; Name:Tripartite motif-containing 32 ; Symbol:TRIM32 ; xref: GENATLAS:TRIM32 ; xref: HGNC:16380 ; xref: OMIM:602290 ; xref: UNIPROTKB/SWISSPROT:Q13049 ; xref: ENSEMBL:ENSG00000119401 ; xref: REACTOME:Q13049] Gene [OrphaNum:118985 ; Name:Bardet-Biedl syndrome 4 ; Symbol:BBS4 ; xref: GENATLAS:BBS4 ; xref: HGNC:969 ; xref: OMIM:600374 ; xref: UNIPROTKB/SWISSPROT:Q96RK4 ; xref: ENSEMBL:ENSG00000140463] Gene [OrphaNum:118975 ; Name:Bardet-Biedl syndrome 1 ; Symbol:BBS1 ; xref: GENATLAS:BBS1 ; xref: HGNC:966 ; xref: OMIM:209901 ; xref: UNIPROTKB/SWISSPROT:Q8NFJ9 ; xref: ENSEMBL:ENSG00000174483] Gene [OrphaNum:123245 ; Name:McKusick-Kaufman syndrome (Gen) ; Symbol:MKKS ; xref: GENATLAS:MKKS ; xref: HGNC:7108 ; xref: OMIM:604896 ; xref: UNIPROTKB/SWISSPROT:Q9NPJ1 ; xref: ENSEMBL:ENSG00000125863] Gene [OrphaNum:119343 ; Name:Centrosomal protein 290kDa ; Symbol:CEP290 ; xref: GENATLAS:CEP290 ; xref: HGNC:29021 ; xref: OMIM:610142 ; xref: UNIPROTKB/SWISSPROT:O15078 ; xref: ENSEMBL:ENSG00000198707 ; xref: REACTOME:O15078] OMIM:210350 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:137646 ; Name:Bardet-Biedl syndrome 12 ; Symbol:BBS12 ; xref: GENATLAS:BBS12 ; xref: HGNC:26648 ; xref: OMIM:610683 ; xref: UNIPROTKB/SWISSPROT:Q6ZW61 ; xref: ENSEMBL:ENSG00000181004] Gene [OrphaNum:118994 ; Name:Bardet-Biedl syndrome 9 ; Symbol:BBS9 ; xref: GENATLAS:BBS9 ; xref: HGNC:30000 ; xref: OMIM:607968 ; xref: UNIPROTKB/SWISSPROT:Q3SYG4 ; xref: ENSEMBL:ENSG00000122507] Gene [OrphaNum:303711 ; Name:Leucine zipper transcription factor-like 1 ; Symbol:LZTFL1 ; xref: HGNC:6741 ; xref: OMIM:606568 ; xref: GENATLAS:LZTFL1 ; xref: UNIPROTKB/SWISSPROT:Q9NQ48] Gene [OrphaNum:247155 ; Name:WD repeat containing planar cell polarity effector ; Symbol:WDPCP ; xref: ENSEMBL:ENSG00000143951 ; xref: HGNC:28027 ; xref: UNIPROTKB/SWISSPROT:O95876 ; xref: OMIM:613580 ; xref: GENATLAS:WDPCP] Orphanet ID- 3244 Gene [OrphaNum:121421 ; Name:ADP-ribosylation factor-like 6 ; Symbol:ARL6 ; xref: GENATLAS:ARL6 ; xref: HGNC:13210 ; xref: OMIM:608845 ; xref: UNIPROTKB/SWISSPROT:Q9H0F7 ; xref: ENSEMBL:ENSG00000113966] ICD10:Q87.8 Gene [OrphaNum:118990 ; Name:Bardet-Biedl syndrome 7 ; Symbol:BBS7 ; xref: GENATLAS:BBS7 ; xref: HGNC:18758 ; xref: OMIM:607590 ; xref: UNIPROTKB/SWISSPROT:Q8IWZ6 ; xref: ENSEMBL:ENSG00000138686] Gene [OrphaNum:244364 ; Name:Serologically defined colon cancer antigen 8 ; Symbol:SDCCAG8 ; xref: GENATLAS:SDCCAG8 ; xref: HGNC:10671 ; xref: OMIM:613524 ; xref: UNIPROTKB/SWISSPROT:Q86SQ7 ; xref: REACTOME:Q86SQ7 ; xref: ENSEMBL:ENSG00000054282] BBS Gene [OrphaNum:123253 ; Name:Meckel syndrome, type 1 ; Symbol:MKS1 ; xref: GENATLAS:MKS1 ; xref: HGNC:7121 ; xref: OMIM:609883 ; xref: UNIPROTKB/SWISSPROT:Q9NXB0 ; xref: ENSEMBL:ENSG00000011143] Gene [OrphaNum:118978 ; Name:Bardet-Biedl syndrome 10 ; Symbol:BBS10 ; xref: GENATLAS:BBS10 ; xref: HGNC:26291 ; xref: OMIM:610148 ; xref: UNIPROTKB/SWISSPROT:Q8TAM1 ; xref: ENSEMBL:ENSG00000179941] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 EXACT BBS Hereditary nonpolyposis colon cancer Familial nonpolyposis colon cancer Familial nonpolyposis colorectal cancer HNPCC Hereditary nonpolyposis colorectal cancer Lynch syndrome HNPCC ICD10:C18.9 Gene [OrphaNum:123263 ; Name:MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) ; Symbol:MLH1 ; xref: GENATLAS:MLH1 ; xref: HGNC:7127 ; xref: OMIM:120436 ; xref: UNIPROTKB/SWISSPROT:P40692 ; xref: ENSEMBL:ENSG00000076242 ; xref: REACTOME:P40692] Hereditary nonpolyposis colorectal cancer OMIM:614331 Gene [OrphaNum:120069 ; Name:Transforming growth factor, beta receptor II (70/80kDa) ; Symbol:TGFBR2 ; xref: GENATLAS:TGFBR2 ; xref: HGNC:11773 ; xref: OMIM:190182 ; xref: UNIPROTKB/SWISSPROT:P37173 ; xref: ENSEMBL:ENSG00000163513 ; xref: REACTOME:P37173] Gene [OrphaNum:117820 ; Name:Phosphoinositide-3-kinase, catalytic, alpha polypeptide ; Symbol:PIK3CA ; xref: GENATLAS:PIK3CA ; xref: HGNC:8975 ; xref: OMIM:171834 ; xref: UNIPROTKB/SWISSPROT:P42336 ; xref: ENSEMBL:ENSG00000121879 ; xref: REACTOME:P42336] OMIM:613244 OMIM:614350 Gene [OrphaNum:117913 ; Name:PMS1 postmeiotic segregation increased 1 (S. cerevisiae) ; Symbol:PMS1 ; xref: GENATLAS:PMS1 ; xref: HGNC:9121 ; xref: OMIM:600258 ; xref: UNIPROTKB/SWISSPROT:P54277 ; xref: ENSEMBL:ENSG00000064933] Gene [OrphaNum:119048 ; Name:Bone morphogenetic protein receptor, type IA ; Symbol:BMPR1A ; xref: GENATLAS:BMPR1A ; xref: HGNC:1076 ; xref: OMIM:601299 ; xref: UNIPROTKB/SWISSPROT:P36894 ; xref: REACTOME:P36894 ; xref: ENSEMBL:ENSG00000107779] Lynch syndrome OMIM:120435 Gene [OrphaNum:226018 ; Name:Epithelial cell adhesion molecule ; Symbol:EPCAM ; xref: GENATLAS:EPCAM ; xref: HGNC:11529 ; xref: OMIM:185535 ; xref: UNIPROTKB/SWISSPROT:P16422 ; xref: ENSEMBL:ENSG00000119888] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 Orphanet ID- 3245 Familial nonpolyposis colorectal cancer ICD10:Z80.0 Gene [OrphaNum:117916 ; Name:PMS2 postmeiotic segregation increased 2 (S. cerevisiae) ; Symbol:PMS2 ; xref: UNIPROTKB/SWISSPROT:P54278 ; xref: GENATLAS:PMS2 ; xref: HGNC:9122 ; xref: OMIM:600259 ; xref: ENSEMBL:ENSG00000122512] Familial nonpolyposis colon cancer Gene [OrphaNum:123269 ; Name:MutL homolog 3 (E. coli) ; Symbol:MLH3 ; xref: GENATLAS:MLH3 ; xref: HGNC:7128 ; xref: OMIM:604395 ; xref: UNIPROTKB/SWISSPROT:Q9UHC1 ; xref: REACTOME:Q9UHC1 ; xref: ENSEMBL:ENSG00000119684] Gene [OrphaNum:303004 ; Name:Leucine rich repeat (in FLII) interacting protein 2 ; Symbol:LRRFIP2 ; xref: HGNC:6703 ; xref: OMIM:614043 ; xref: GENATLAS:LRRFIP2 ; xref: UNIPROTKB/SWISSPROT:Q9Y608] OMIM:609310 OMIM:614337 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:614385 Gene [OrphaNum:123487 ; Name:MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) ; Symbol:MSH2 ; xref: GENATLAS:MSH2 ; xref: HGNC:7325 ; xref: OMIM:609309 ; xref: UNIPROTKB/SWISSPROT:P43246 ; xref: ENSEMBL:ENSG00000095002] Gene [OrphaNum:123492 ; Name:MutS homolog 6 (E. coli) ; Symbol:MSH6 ; xref: GENATLAS:MSH6 ; xref: HGNC:7329 ; xref: OMIM:600678 ; xref: UNIPROTKB/SWISSPROT:P52701 ; xref: ENSEMBL:ENSG00000116062] EXACT Familial nonpolyposis colorectal cancer EXACT Hereditary nonpolyposis colorectal cancer EXACT HNPCC EXACT Familial nonpolyposis colon cancer EXACT Lynch syndrome Multiple osteochondromas Bessel-Hagen disease Multiple exostoses Orphanet ID- 3247 Multiple exostoses Gene [OrphaNum:121645 ; Name:Exostoses (multiple) 1 ; Symbol:EXT1 ; xref: GENATLAS:EXT1 ; xref: HGNC:3512 ; xref: OMIM:608177 ; xref: UNIPROTKB/SWISSPROT:Q16394 ; xref: ENSEMBL:ENSG00000182197] Gene [OrphaNum:121648 ; Name:Exostoses (multiple) 2 ; Symbol:EXT2 ; xref: GENATLAS:EXT2 ; xref: HGNC:3513 ; xref: OMIM:608210 ; xref: UNIPROTKB/SWISSPROT:Q93063 ; xref: ENSEMBL:ENSG00000151348] Bessel-Hagen disease OMIM:133701 OMIM:133700 OMIM:175450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:600209 ICD10:Q78.6 EXACT Bessel-Hagen disease EXACT Multiple exostoses Kallmann syndrome Congenital hypogonadotropic hypogonadism with anosmia OMIM:610628 Gene [OrphaNum:244406 ; Name:WD repeat domain 11 ; Symbol:WDR11 ; xref: GENATLAS:WDR11 ; xref: HGNC:13831 ; xref: OMIM:606417 ; xref: UNIPROTKB/SWISSPROT:Q9BZH6 ; xref: ENSEMBL:ENSG00000120008] Gene [OrphaNum:281487 ; Name:Heparan sulfate 6-O-sulfotransferase 1 ; Symbol:HS6ST1 ; xref: ENSEMBL:ENSG00000136720 ; xref: OMIM:604846 ; xref: HGNC:5201 ; xref: GENATLAS:HS6ST1 ; xref: UNIPROTKB/SWISSPROT:O60243] Gene [OrphaNum:118039 ; Name:Prokineticin 2 ; Symbol:PROK2 ; xref: OMIM:607002 ; xref: UNIPROTKB/SWISSPROT:Q9HC23 ; xref: GENATLAS:PROK2 ; xref: HGNC:18455 ; xref: ENSEMBL:ENSG00000163421 ; xref: REACTOME:Q9HC23] Congenital hypogonadotropic hypogonadism with anosmia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 Gene [OrphaNum:123757 ; Name:Nasal embryonic LHRH factor ; Symbol:NELF ; xref: GENATLAS:NELF ; xref: HGNC:29843 ; xref: OMIM:608137 ; xref: UNIPROTKB/SWISSPROT:Q6X4W1 ; xref: ENSEMBL:ENSG00000165802] Gene [OrphaNum:294689 ; Name:Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A ; Symbol:SEMA3A ; xref: HGNC:10723 ; xref: OMIM:603961 ; xref: GENATLAS:SEMA3A ; xref: UNIPROTKB/SWISSPROT:Q14563] OMIM:612702 Gene [OrphaNum:118044 ; Name:Prokineticin receptor 2 ; Symbol:PROKR2 ; xref: GENATLAS:PROKR2 ; xref: HGNC:15836 ; xref: OMIM:607123 ; xref: UNIPROTKB/SWISSPROT:Q8NFJ6 ; xref: ENSEMBL:ENSG00000101292 ; xref: REACTOME:Q8NFJ6 ; xref: IUPHAR:336] OMIM:308700 Gene [OrphaNum:121802 ; Name:Fibroblast growth factor receptor 1 ; Symbol:FGFR1 ; xref: GENATLAS:FGFR1 ; xref: HGNC:3688 ; xref: OMIM:136350 ; xref: UNIPROTKB/SWISSPROT:P11362 ; xref: ENSEMBL:ENSG00000077782 ; xref: REACTOME:P11362] prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Inheritance- X-linked recessive; Orphanet ID- 3249 OMIM:244200 Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] Gene [OrphaNum:119389 ; Name:Chromodomain helicase DNA binding protein 7 ; Symbol:CHD7 ; xref: GENATLAS:CHD7 ; xref: HGNC:20626 ; xref: OMIM:608892 ; xref: UNIPROTKB/SWISSPROT:Q9P2D1 ; xref: ENSEMBL:ENSG00000171316] ICD10:E23.0 OMIM:147950 OMIM:612370 Gene [OrphaNum:122751 ; Name:Kallmann syndrome 1 sequence ; Symbol:KAL1 ; xref: GENATLAS:KAL1 ; xref: HGNC:6211 ; xref: UNIPROTKB/SWISSPROT:P23352 ; xref: OMIM:300836 ; xref: ENSEMBL:ENSG00000011201] EXACT Congenital hypogonadotropic hypogonadism with anosmia Triose phosphate-isomerase deficiency Gene [OrphaNum:120218 ; Name:Triosephosphate isomerase 1 ; Symbol:TPI1 ; xref: GENATLAS:TPI1 ; xref: HGNC:12009 ; xref: OMIM:190450 ; xref: UNIPROTKB/SWISSPROT:P60174 ; xref: REACTOME:P60174 ; xref: ENSEMBL:ENSG00000111669] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D55.2 OMIM:190450 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 Orphanet ID- 325 Laron syndrome Complete growth hormone insensitivity GH receptor deficiency Growth hormone receptor deficiency Laron-type dwarfism Primary GH insensitivity Primary GH resistance Primary growth hormone insensitivity Primary growth hormone resistance Short stature due to growth hormone resistance Primary growth hormone resistance Laron-type dwarfism Growth hormone receptor deficiency Complete growth hormone insensitivity Orphanet ID- 3250 OMIM:262500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633 ICD10:E34.3 Primary GH resistance Primary GH insensitivity prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Short stature due to growth hormone resistance Primary growth hormone insensitivity Gene [OrphaNum:122095 ; Name:Growth hormone receptor ; Symbol:GHR ; xref: GENATLAS:GHR ; xref: HGNC:4263 ; xref: OMIM:600946 ; xref: UNIPROTKB/SWISSPROT:P10912 ; xref: ENSEMBL:ENSG00000112964 ; xref: REACTOME:P10912] GH receptor deficiency EXACT Primary growth hormone resistance EXACT Primary GH resistance EXACT GH receptor deficiency EXACT Short stature due to growth hormone resistance EXACT Laron-type dwarfism EXACT Complete growth hormone insensitivity EXACT Primary growth hormone insensitivity EXACT Growth hormone receptor deficiency EXACT Primary GH insensitivity Otopalatodigital syndrome Taybi syndrome ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=669 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; Orphanet ID- 3251 Taybi syndrome EXACT Taybi syndrome Hereditary spherocytosis Minkowski-Chauffard disease OMIM:182870 Orphanet ID- 3252 ICD10:D58.0 OMIM:612653 Gene [OrphaNum:119669 ; Name:Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ; Symbol:SLC4A1 ; xref: GENATLAS:SLC4A1 ; xref: HGNC:11027 ; xref: OMIM:109270 ; xref: UNIPROTKB/SWISSPROT:P02730 ; xref: ENSEMBL:ENSG00000004939 ; xref: REACTOME:P02730] Minkowski-Chauffard disease OMIM:270970 Gene [OrphaNum:121356 ; Name:Ankyrin 1, erythrocytic ; Symbol:ANK1 ; xref: GENATLAS:ANK1 ; xref: HGNC:492 ; xref: OMIM:612641 ; xref: UNIPROTKB/SWISSPROT:P16157 ; xref: ENSEMBL:ENSG00000029534 ; xref: REACTOME:P16157] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822 Gene [OrphaNum:119846 ; Name:Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) ; Symbol:SPTA1 ; xref: GENATLAS:SPTA1 ; xref: HGNC:11272 ; xref: OMIM:182860 ; xref: UNIPROTKB/SWISSPROT:P02549 ; xref: ENSEMBL:ENSG00000163554 ; xref: REACTOME:P02549] OMIM:612690 Gene [OrphaNum:119849 ; Name:Spectrin, beta, erythrocytic (includes spherocytosis, clinical type I) ; Symbol:SPTB ; xref: GENATLAS:SPTB ; xref: HGNC:11274 ; xref: OMIM:182870 ; xref: UNIPROTKB/SWISSPROT:P11277 ; xref: ENSEMBL:ENSG00000070182 ; xref: REACTOME:P11277] Gene [OrphaNum:159566 ; Name:Erythrocyte membrane protein band 4.2 ; Symbol:EPB42 ; xref: GENATLAS:EPB42 ; xref: HGNC:3381 ; xref: OMIM:177070 ; xref: UNIPROTKB/SWISSPROT:P16452 ; xref: ENSEMBL:ENSG00000166947] OMIM:182900 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Minkowski-Chauffard disease Xeroderma pigmentosum XP Orphanet ID- 3253 ICD10:Q82.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal recessive; OMIM:278780 OMIM:278720 OMIM:278700 OMIM:278760 OMIM:278740 OMIM:194400 XP Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 OMIM:278750 OMIM:278730 OMIM:610651 EXACT XP X-linked nonsyndromic intellectual deficit Nonspecific X-linked intellectual deficit OMIM:300436 OMIM:300433 OMIM:300143 OMIM:300505 OMIM:300504 Gene [OrphaNum:159924 ; Name:Discs, large homolog 3 (neuroendocrine-dlg, Drosophila) ; Symbol:DLG3 ; xref: GENATLAS:DLG3 ; xref: HGNC:2902 ; xref: OMIM:300189 ; xref: UNIPROTKB/SWISSPROT:Q92796 ; xref: ENSEMBL:ENSG00000082458 ; xref: REACTOME:Q92796] OMIM:300851 OMIM:300852 OMIM:300046 OMIM:300047 OMIM:300850 OMIM:300716 Gene [OrphaNum:159921 ; Name:Angiotensin II receptor, type 2 ; Symbol:AGTR2 ; xref: GENATLAS:AGTR2 ; xref: HGNC:338 ; xref: OMIM:300034 ; xref: UNIPROTKB/SWISSPROT:P50052 ; xref: ENSEMBL:ENSG00000180772 ; xref: REACTOME:P50052 ; xref: IUPHAR:35] Gene [OrphaNum:159118 ; Name:Zinc finger protein 41 ; Symbol:ZNF41 ; xref: OMIM:314995 ; xref: UNIPROTKB/SWISSPROT:P51814 ; xref: GENATLAS:ZNF41 ; xref: HGNC:13107 ; xref: ENSEMBL:ENSG00000147124 ; xref: REACTOME:P51814] Gene [OrphaNum:250175 ; Name:Magnesium transporter 1 ; Symbol:MAGT1 ; xref: ENSEMBL:ENSG00000102158 ; xref: GENATLAS:MAGT1 ; xref: HGNC:28880 ; xref: OMIM:300715 ; xref: UNIPROTKB/SWISSPROT:Q9H0U3] Orphanet ID- 3256 OMIM:309549 Gene [OrphaNum:123186 ; Name:Methyl CpG binding protein 2 (Rett syndrome) ; Symbol:MECP2 ; xref: GENATLAS:MECP2 ; xref: HGNC:6990 ; xref: OMIM:300005 ; xref: UNIPROTKB/SWISSPROT:P51608 ; xref: ENSEMBL:ENSG00000169057] Gene [OrphaNum:159942 ; Name:p21 protein (Cdc42/Rac)-activated kinase 3 ; Symbol:PAK3 ; xref: GENATLAS:PAK3 ; xref: HGNC:8592 ; xref: OMIM:300142 ; xref: UNIPROTKB/SWISSPROT:O75914 ; xref: ENSEMBL:ENSG00000077264 ; xref: REACTOME:O75914] OMIM:300387 Gene [OrphaNum:290194 ; Name:Zinc finger protein 711 ; Symbol:ZNF711 ; xref: HGNC:13128 ; xref: OMIM:314990 ; xref: GENATLAS:ZNF711 ; xref: UNIPROTKB/SWISSPROT:Q9Y462 ; xref: ENSEMBL:ENSG00000147180] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked recessive; Gene [OrphaNum:225332 ; Name:RAB39B, member RAS oncogene family ; Symbol:RAB39B ; xref: ENSEMBL:ENSG00000155961 ; xref: GENATLAS:RAB39B ; xref: HGNC:16499 ; xref: OMIM:300774 ; xref: UNIPROTKB/SWISSPROT:Q96DA2] Gene [OrphaNum:226044 ; Name:Synaptophysin ; Symbol:SYP ; xref: GENATLAS:SYP ; xref: HGNC:11506 ; xref: UNIPROTKB/SWISSPROT:P08247 ; xref: OMIM:313475 ; xref: ENSEMBL:ENSG00000102003] Gene [OrphaNum:159373 ; Name:UPF3 regulator of nonsense transcripts homolog B (yeast) ; Symbol:UPF3B ; xref: ENSEMBL:ENSG00000125351 ; xref: REACTOME:Q9BZI7 ; xref: GENATLAS:UPF3B ; xref: HGNC:20439 ; xref: OMIM:300298 ; xref: UNIPROTKB/SWISSPROT:Q9BZI7] Gene [OrphaNum:122069 ; Name:GDP dissociation inhibitor 1 ; Symbol:GDI1 ; xref: GENATLAS:GDI1 ; xref: HGNC:4226 ; xref: OMIM:300104 ; xref: UNIPROTKB/SWISSPROT:P31150 ; xref: ENSEMBL:ENSG00000203879 ; xref: REACTOME:P31150] Gene [OrphaNum:122282 ; Name:Glutamate receptor, ionotrophic, AMPA 3 ; Symbol:GRIA3 ; xref: GENATLAS:GRIA3 ; xref: HGNC:4573 ; xref: OMIM:305915 ; xref: UNIPROTKB/SWISSPROT:P42263 ; xref: IUPHAR:446 ; xref: ENSEMBL:ENSG00000125675 ; xref: REACTOME:P42263] Gene [OrphaNum:168155 ; Name:Tetraspanin 7 ; Symbol:TSPAN7 ; xref: GENATLAS:TSPAN7 ; xref: HGNC:11854 ; xref: OMIM:300096 ; xref: UNIPROTKB/SWISSPROT:P41732 ; xref: ENSEMBL:ENSG00000156298] OMIM:300454 Gene [OrphaNum:118405 ; Name:Ribosomal protein S6 kinase, 90kDa, polypeptide 3 ; Symbol:RPS6KA3 ; xref: GENATLAS:RPS6KA3 ; xref: HGNC:10432 ; xref: OMIM:300075 ; xref: UNIPROTKB/SWISSPROT:P51812 ; xref: REACTOME:P51812 ; xref: ENSEMBL:ENSG00000177189] ICD10:F78 OMIM:309541 OMIM:300419 Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848] OMIM:300518 Gene [OrphaNum:168335 ; Name:Zinc finger protein 81 ; Symbol:ZNF81 ; xref: GENATLAS:ZNF81 ; xref: HGNC:13156 ; xref: OMIM:314998 ; xref: UNIPROTKB/SWISSPROT:P51508 ; xref: ENSEMBL:ENSG00000197779] OMIM:300498 OMIM:300551 Gene [OrphaNum:159931 ; Name:Interleukin 1 receptor accessory protein-like 1 ; Symbol:IL1RAPL1 ; xref: GENATLAS:IL1RAPL1 ; xref: HGNC:5996 ; xref: OMIM:300206 ; xref: UNIPROTKB/SWISSPROT:Q9NZN1 ; xref: ENSEMBL:ENSG00000169306] Gene [OrphaNum:168322 ; Name:Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 ; Symbol:ARHGEF6 ; xref: GENATLAS:ARHGEF6 ; xref: HGNC:685 ; xref: OMIM:300267 ; xref: UNIPROTKB/SWISSPROT:Q15052 ; xref: REACTOME:Q15052 ; xref: ENSEMBL:ENSG00000129675] Nonspecific X-linked intellectual deficit OMIM:300699 OMIM:300271 OMIM:300355 OMIM:300558 OMIM:300324 Gene [OrphaNum:159252 ; Name:Zinc finger protein 674 ; Symbol:ZNF674 ; xref: GENATLAS:ZNF674 ; xref: HGNC:17625 ; xref: OMIM:300573 ; xref: UNIPROTKB/SWISSPROT:Q2M3X9 ; xref: ENSEMBL:ENSG00000251192] OMIM:300372 OMIM:300062 OMIM:300115 OMIM:300114 OMIM:300428 Gene [OrphaNum:117743 ; Name:Acyl-CoA synthetase long-chain family member 4 ; Symbol:ACSL4 ; xref: GENATLAS:ACSL4 ; xref: HGNC:3571 ; xref: OMIM:300157 ; xref: UNIPROTKB/SWISSPROT:O60488 ; xref: ENSEMBL:ENSG00000068366 ; xref: REACTOME:O60488] OMIM:309530 Gene [OrphaNum:232248 ; Name:IQ motif and Sec7 domain 2 ; Symbol:IQSEC2 ; xref: ENSEMBL:ENSG00000124313 ; xref: GENATLAS:IQSEC2 ; xref: HGNC:29059 ; xref: UNIPROTKB/SWISSPROT:Q5JU85 ; xref: OMIM:300522] OMIM:300844 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 OMIM:300848 OMIM:300849 OMIM:300803 OMIM:300210 OMIM:300802 Gene [OrphaNum:121955 ; Name:FtsJ homolog 1 (E. coli) ; Symbol:FTSJ1 ; xref: GENATLAS:FTSJ1 ; xref: HGNC:13254 ; xref: OMIM:300499 ; xref: UNIPROTKB/SWISSPROT:Q9UET6 ; xref: ENSEMBL:ENSG00000068438] EXACT Nonspecific X-linked intellectual deficit Hemolytic anemia due to red cell pyruvate kinase deficiency Pyruvate kinase deficiency of erythrocytes ICD10:D55.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 Pyruvate kinase deficiency of erythrocytes prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 3257 OMIM:266200 Gene [OrphaNum:117861 ; Name:Pyruvate kinase, liver and RBC ; Symbol:PKLR ; xref: GENATLAS:PKLR ; xref: HGNC:9020 ; xref: OMIM:609712 ; xref: UNIPROTKB/SWISSPROT:P30613 ; xref: ENSEMBL:ENSG00000143627 ; xref: REACTOME:P30613] EXACT Pyruvate kinase deficiency of erythrocytes Familial aortic dissection Annuloaortic ectasia Cystic medial necrosis of aorta Erdheim disease Cystic medial necrosis of aorta Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=229 Erdheim disease prevalence- null; AgeOfOnset- Variable; AgeOfDeath-null; Orphanet ID- 3258 Annuloaortic ectasia ICD10:I71.0 Gene [OrphaNum:123606 ; Name:Myosin, heavy chain 11, smooth muscle ; Symbol:MYH11 ; xref: GENATLAS:MYH11 ; xref: HGNC:7569 ; xref: OMIM:160745 ; xref: UNIPROTKB/SWISSPROT:P35749 ; xref: REACTOME:P35749 ; xref: ENSEMBL:ENSG00000133392] OMIM:607086 EXACT Erdheim disease EXACT Cystic medial necrosis of aorta EXACT Annuloaortic ectasia Vitamin B12-responsive methylmalonic acidemia Adenosylcobalamin deficiency Vitamin B12-responsive methylmalonic aciduria Vitamin B12-responsive methylmalonic aciduria ICD10:E71.1 Adenosylcobalamin deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3260 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 EXACT Adenosylcobalamin deficiency EXACT Vitamin B12-responsive methylmalonic aciduria Hyperlipoproteinemia type 1 Apolipoprotein C-II deficiency Familial hyperchylomicronemia Lipoprotein lipase deficiency ICD10:E78.3 Familial hyperchylomicronemia Lipoprotein lipase deficiency Orphanet ID- 3263 Gene [OrphaNum:123112 ; Name:Lipoprotein lipase ; Symbol:LPL ; xref: GENATLAS:LPL ; xref: HGNC:6677 ; xref: OMIM:609708 ; xref: UNIPROTKB/SWISSPROT:P06858 ; xref: ENSEMBL:ENSG00000175445 ; xref: REACTOME:P06858] Gene [OrphaNum:121388 ; Name:Apolipoprotein C-II ; Symbol:APOC2 ; xref: GENATLAS:APOC2 ; xref: HGNC:609 ; xref: OMIM:608083 ; xref: UNIPROTKB/SWISSPROT:P02655 ; xref: REACTOME:P02655 ; xref: ENSEMBL:ENSG00000234906] Gene [OrphaNum:201108 ; Name:Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ; Symbol:GPIHBP1 ; xref: GENATLAS:GPIHBP1 ; xref: HGNC:24945 ; xref: OMIM:612757 ; xref: UNIPROTKB/SWISSPROT:Q8IV16 ; xref: ENSEMBL:ENSG00000182851] Apolipoprotein C-II deficiency Gene [OrphaNum:269953 ; Name:lipase maturation factor 1 ; Symbol:LMF1 ; xref: ENSEMBL:ENSG00000103227 ; xref: HGNC:14154 ; xref: OMIM:611761 ; xref: GENATLAS:LMF1 ; xref: UNIPROTKB/SWISSPROT:Q96S06] OMIM:207750 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:118830 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411 OMIM:238600 EXACT Familial hyperchylomicronemia EXACT Apolipoprotein C-II deficiency EXACT Lipoprotein lipase deficiency Hyperlipidemia type 3 Broad-betalipoproteinemia Hyperlipoproteinemia type 3 OMIM:107741 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Orphanet ID- 3264 Gene [OrphaNum:121390 ; Name:Apolipoprotein E ; Symbol:APOE ; xref: GENATLAS:APOE ; xref: HGNC:613 ; xref: OMIM:107741 ; xref: UNIPROTKB/SWISSPROT:P02649 ; xref: ENSEMBL:ENSG00000130203 ; xref: REACTOME:P02649] Hyperlipoproteinemia type 3 Broad-betalipoproteinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 ICD10:E78.2 EXACT Hyperlipoproteinemia type 3 EXACT Broad-betalipoproteinemia Familial hyperthyroidism due to mutations in TSH receptor Familial non-immune hyperthyroidism Resistance to thyroid stimulating hormone ICD10:E05.8 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Resistance to thyroid stimulating hormone Gene [OrphaNum:120320 ; Name:Thyroid stimulating hormone receptor ; Symbol:TSHR ; xref: GENATLAS:TSHR ; xref: HGNC:12373 ; xref: OMIM:603372 ; xref: UNIPROTKB/SWISSPROT:P16473 ; xref: IUPHAR:255 ; xref: ENSEMBL:ENSG00000165409 ; xref: REACTOME:P16473] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 Familial non-immune hyperthyroidism OMIM:609152 Orphanet ID- 3266 EXACT Resistance to thyroid stimulating hormone EXACT Familial non-immune hyperthyroidism Hepatic glycogen synthase deficiency GSD type 0a Glycogen storage disease type 0a Liver glycogen synthase deficiency Type 0a glycogenosis Liver glycogen synthase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 GSD type 0a Gene [OrphaNum:122354 ; Name:Glycogen synthase 2 (liver) ; Symbol:GYS2 ; xref: GENATLAS:GYS2 ; xref: HGNC:4707 ; xref: OMIM:138571 ; xref: UNIPROTKB/SWISSPROT:P54840 ; xref: REACTOME:P54840 ; xref: ENSEMBL:ENSG00000111713] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Glycogen storage disease type 0a OMIM:240600 Type 0a glycogenosis ICD10:E74.0 Orphanet ID- 3271 EXACT Glycogen storage disease type 0a EXACT Liver glycogen synthase deficiency EXACT GSD type 0a EXACT Type 0a glycogenosis Herpetic encephalitis HSV encephalitis Herpes simplex encephalitis Herpes simplex neuroinvasion prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Sporadic; ICD10:B00.4 Gene [OrphaNum:167875 ; Name:Toll-like receptor 3 ; Symbol:TLR3 ; xref: GENATLAS:TLR3 ; xref: HGNC:11849 ; xref: OMIM:603029 ; xref: UNIPROTKB/SWISSPROT:O15455 ; xref: REACTOME:O15455 ; xref: ENSEMBL:ENSG00000164342] Gene [OrphaNum:292425 ; Name:TNF receptor-associated factor 3 ; Symbol:TRAF3 ; xref: HGNC:12033 ; xref: OMIM:601896 ; xref: GENATLAS:TRAF3 ; xref: UNIPROTKB/SWISSPROT:Q13114] Herpes simplex encephalitis OMIM:613002 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1930 Gene [OrphaNum:292419 ; Name:Toll-like receptor adaptor molecule 1 ; Symbol:TICAM1 ; xref: HGNC:18348 ; xref: OMIM:607601 ; xref: GENATLAS:TICAM1 ; xref: UNIPROTKB/SWISSPROT:Q8IUC6] HSV encephalitis OMIM:610551 ICD10:G05.1 Orphanet ID- 3275 Gene [OrphaNum:120419 ; Name:Unc-93 homolog B1 (C. elegans) ; Symbol:UNC93B1 ; xref: GENATLAS:UNC93B1 ; xref: HGNC:13481 ; xref: OMIM:608204 ; xref: UNIPROTKB/SWISSPROT:Q9H1C4 ; xref: REACTOME:Q9H1C4 ; xref: ENSEMBL:ENSG00000110057] Herpes simplex neuroinvasion EXACT HSV encephalitis EXACT Herpes simplex encephalitis EXACT Herpes simplex neuroinvasion Hyperimmunoglobulinemia D with periodic fever HIDS Hyper-IgD syndrome Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulinemia D syndrome Mevalonate kinase deficiency Mevalonate kinase deficiency OMIM:260920 Hyperimmunoglobinemia D with recurrent fever Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 Hyper-IgD syndrome Gene [OrphaNum:123588 ; Name:Mevalonate kinase (mevalonic aciduria) ; Symbol:MVK ; xref: REACTOME:Q03426 ; xref: GENATLAS:MVK ; xref: HGNC:7530 ; xref: OMIM:251170 ; xref: UNIPROTKB/SWISSPROT:Q03426 ; xref: ENSEMBL:ENSG00000110921] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3276 ICD10:E88.8 Hyperimmunoglobulinemia D syndrome HIDS EXACT Mevalonate kinase deficiency EXACT Hyperimmunoglobulinemia D syndrome EXACT Hyper-IgD syndrome EXACT HIDS EXACT Hyperimmunoglobinemia D with recurrent fever Congenital factor II deficiency Dysprothrombinemia Hypoprothrombinemia Prothrombin deficiency Dysprothrombinemia Hypoprothrombinemia Orphanet ID- 3277 Prothrombin deficiency Gene [OrphaNum:121671 ; Name:Coagulation factor II (thrombin) ; Symbol:F2 ; xref: GENATLAS:F2 ; xref: HGNC:3535 ; xref: OMIM:176930 ; xref: UNIPROTKB/SWISSPROT:P00734 ; xref: ENSEMBL:ENSG00000180210 ; xref: REACTOME:P00734] ICD10:D68.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325 OMIM:613679 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; EXACT Prothrombin deficiency EXACT Dysprothrombinemia EXACT Hypoprothrombinemia Familial thrombomodulin anomalies OMIM:614486 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D68.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324 Orphanet ID- 3278 Gene [OrphaNum:120088 ; Name:Thrombomodulin ; Symbol:THBD ; xref: GENATLAS:THBD ; xref: HGNC:11784 ; xref: OMIM:188040 ; xref: UNIPROTKB/SWISSPROT:P07204 ; xref: REACTOME:P07204 ; xref: ENSEMBL:ENSG00000178726] Immunodeficiency by defective expression of HLA class 2 Bare lymphocyte syndrome type 2 HLA class 2-negative severe combined immunodeficiency OMIM:209920 Gene [OrphaNum:118288 ; Name:Regulatory factor X-associated ankyrin-containing protein ; Symbol:RFXANK ; xref: GENATLAS:RFXANK ; xref: HGNC:9987 ; xref: OMIM:603200 ; xref: UNIPROTKB/SWISSPROT:O14593 ; xref: ENSEMBL:ENSG00000064490] Gene [OrphaNum:119442 ; Name:Class II, major histocompatibility complex, transactivator ; Symbol:CIITA ; xref: GENATLAS:CIITA ; xref: HGNC:7067 ; xref: OMIM:600005 ; xref: UNIPROTKB/SWISSPROT:P33076 ; xref: REACTOME:P33076 ; xref: ENSEMBL:ENSG00000179583] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572 Orphanet ID- 3279 Gene [OrphaNum:119922 ; Name:Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) ; Symbol:TAP2 ; xref: GENATLAS:TAP2 ; xref: HGNC:44 ; xref: OMIM:170261 ; xref: UNIPROTKB/SWISSPROT:Q03519 ; xref: ENSEMBL:ENSG00000204267 ; xref: REACTOME:Q03519] ICD10:D81.7 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:118293 ; Name:Regulatory factor X-associated protein ; Symbol:RFXAP ; xref: GENATLAS:RFXAP ; xref: HGNC:9988 ; xref: OMIM:601861 ; xref: UNIPROTKB/SWISSPROT:O00287 ; xref: ENSEMBL:ENSG00000133111] Gene [OrphaNum:118286 ; Name:Regulatory factor X, 5 (influences HLA class II expression) ; Symbol:RFX5 ; xref: GENATLAS:RFX5 ; xref: HGNC:9986 ; xref: OMIM:601863 ; xref: UNIPROTKB/SWISSPROT:P48382 ; xref: ENSEMBL:ENSG00000143390] HLA class 2-negative severe combined immunodeficiency Bare lymphocyte syndrome type 2 EXACT Bare lymphocyte syndrome type 2 EXACT HLA class 2-negative severe combined immunodeficiency Monosomy 18p 18p- syndrome De Grouchy syndrome De Grouchy syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 ICD10:Q93.5 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; Orphanet ID- 328 OMIM:146390 18p- syndrome EXACT 18p- syndrome EXACT De Grouchy syndrome Combined immunodeficiency due to ZAP70 deficiency Zeta-associated-protein 70 deficiency Orphanet ID- 3280 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=911 Zeta-associated-protein 70 deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:120579 ; Name:Zeta-chain (TCR) associated protein kinase 70kDa ; Symbol:ZAP70 ; xref: ENSEMBL:ENSG00000115085 ; xref: GENATLAS:ZAP70 ; xref: HGNC:12858 ; xref: OMIM:176947 ; xref: UNIPROTKB/SWISSPROT:P43403 ; xref: REACTOME:P43403] OMIM:176947 EXACT Zeta-associated-protein 70 deficiency Hereditary methemoglobinemia OMIM:250800 Orphanet ID- 3290 OMIM:250790 Gene [OrphaNum:120929 ; Name:Cytochrome b5 type A (microsomal) ; Symbol:CYB5A ; xref: GENATLAS:CYB5A ; xref: HGNC:2570 ; xref: OMIM:613218 ; xref: UNIPROTKB/SWISSPROT:P00167 ; xref: REACTOME:P00167 ; xref: ENSEMBL:ENSG00000166347] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 OMIM:250700 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D74.0 Mitochondrial trifunctional protein deficiency Gene [OrphaNum:138233 ; Name:hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase, alpha subunit ; Symbol:HADHA ; xref: GENATLAS:HADHA ; xref: HGNC:4801 ; xref: OMIM:600890 ; xref: UNIPROTKB/SWISSPROT:P40939 ; xref: ENSEMBL:ENSG00000084754 ; xref: REACTOME:P40939] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 Orphanet ID- 3294 ICD10:E71.3 OMIM:609015 ICD10:I43.1 Gene [OrphaNum:138829 ; Name:Hydroxyacyl-Coenzyme A dehydrogenase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit ; Symbol:HADHB ; xref: ENSEMBL:ENSG00000138029 ; xref: REACTOME:P55084 ; xref: GENATLAS:HADHB ; xref: HGNC:4803 ; xref: OMIM:143450 ; xref: UNIPROTKB/SWISSPROT:P55084] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Malonic aciduria Malonyl-CoA decarboxylase deficiency ICD10:E72.8 Malonyl-CoA decarboxylase deficiency Orphanet ID- 3295 Gene [OrphaNum:123290 ; Name:Malonyl-CoA decarboxylase ; Symbol:MLYCD ; xref: GENATLAS:MLYCD ; xref: HGNC:7150 ; xref: OMIM:606761 ; xref: UNIPROTKB/SWISSPROT:O95822 ; xref: ENSEMBL:ENSG00000103150] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 OMIM:248360 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Malonyl-CoA decarboxylase deficiency 3-hydroxy-3-methylglutaric aciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Hydroxymethylglutaricaciduria 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ICD10:E71.1 Orphanet ID- 3296 Gene [OrphaNum:122447 ; Name:3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) ; Symbol:HMGCL ; xref: GENATLAS:HMGCL ; xref: HGNC:5005 ; xref: OMIM:613898 ; xref: UNIPROTKB/SWISSPROT:P35914 ; xref: REACTOME:P35914 ; xref: ENSEMBL:ENSG00000117305] Hydroxymethylglutaricaciduria OMIM:246450 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 EXACT 3-hydroxy-3-methylglutaryl-CoA lyase deficiency EXACT Hydroxymethylglutaricaciduria Isolated 3-methylcrotonyl-CoA carboxylase deficiency 3-methylcrotonylglycinuria MCC deficiency MCCD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 OMIM:210210 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E71.1 OMIM:210200 Gene [OrphaNum:123167 ; Name:Methylcrotonoyl-Coenzyme A carboxylase 2 (beta) ; Symbol:MCCC2 ; xref: GENATLAS:MCCC2 ; xref: HGNC:6937 ; xref: OMIM:609014 ; xref: UNIPROTKB/SWISSPROT:Q9HCC0 ; xref: REACTOME:Q9HCC0 ; xref: ENSEMBL:ENSG00000131844] MCCD MCC deficiency Gene [OrphaNum:123164 ; Name:Methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) ; Symbol:MCCC1 ; xref: GENATLAS:MCCC1 ; xref: HGNC:6936 ; xref: OMIM:609010 ; xref: UNIPROTKB/SWISSPROT:Q96RQ3 ; xref: ENSEMBL:ENSG00000078070 ; xref: REACTOME:Q96RQ3] Orphanet ID- 3297 3-methylcrotonylglycinuria EXACT MCC deficiency EXACT MCCD EXACT 3-methylcrotonylglycinuria Succinyl-CoA acetoacetate transferase deficiency SCOT deficiency ICD10:E71.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:124042 ; Name:3-oxoacid CoA transferase 1 ; Symbol:OXCT1 ; xref: GENATLAS:OXCT1 ; xref: HGNC:8527 ; xref: OMIM:601424 ; xref: UNIPROTKB/SWISSPROT:P55809 ; xref: ENSEMBL:ENSG00000083720 ; xref: REACTOME:P55809] SCOT deficiency OMIM:245050 Orphanet ID- 3298 EXACT SCOT deficiency Familial hypospadias hypospadias true ICD10:Q54.8 Gene [OrphaNum:159494 ; Name:Mastermind-like domain containing 1 ; Symbol:MAMLD1 ; xref: ENSEMBL:ENSG00000013619 ; xref: GENATLAS:MAMLD1 ; xref: HGNC:2568 ; xref: OMIM:300120 ; xref: UNIPROTKB/SWISSPROT:Q13495 ; xref: REACTOME:Q13495] Gene [OrphaNum:132285 ; Name:Androgen receptor ; Symbol:AR ; xref: GENATLAS:AR ; xref: HGNC:644 ; xref: OMIM:313700 ; xref: UNIPROTKB/SWISSPROT:P10275 ; xref: IUPHAR:628 ; xref: ENSEMBL:ENSG00000169083 ; xref: REACTOME:P10275] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:300758 OMIM:300633 OMIM:146450 Orphanet ID- 3299 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440 OMIM:300856 Monosomy 18q 18q- syndrome Deletion 18q ICD10:Q93.5 Deletion 18q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 18q- syndrome Orphanet ID- 330 OMIM:601808 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Deletion 18q EXACT 18q- syndrome Hemolytic anemia due to glucophosphate isomerase deficiency OMIM:613470 Orphanet ID- 3304 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122259 ; Name:Glucose phosphate isomerase ; Symbol:GPI ; xref: GENATLAS:GPI ; xref: HGNC:4458 ; xref: OMIM:172400 ; xref: UNIPROTKB/SWISSPROT:P06744 ; xref: ENSEMBL:ENSG00000105220 ; xref: REACTOME:P06744] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 ICD10:D55.2 Hemolytic anemia due to diphosphoglycerate mutase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 ICD10:D55.2 Orphanet ID- 3306 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:119064 ; Name:2,3-bisphosphoglycerate mutase ; Symbol:BPGM ; xref: GENATLAS:BPGM ; xref: HGNC:1093 ; xref: UNIPROTKB/SWISSPROT:P07738 ; xref: OMIM:613896 ; xref: ENSEMBL:ENSG00000172331] OMIM:222800 Fructosuria Fructokinase deficiency Ketohexokinase deficiency Ketohexokinase deficiency prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 ICD10:E74.1 Orphanet ID- 3313 Gene [OrphaNum:122829 ; Name:Ketohexokinase (fructokinase) ; Symbol:KHK ; xref: GENATLAS:KHK ; xref: HGNC:6315 ; xref: OMIM:614058 ; xref: UNIPROTKB/SWISSPROT:P50053 ; xref: ENSEMBL:ENSG00000138030 ; xref: REACTOME:P50053] Fructokinase deficiency OMIM:229800 EXACT Fructokinase deficiency EXACT Ketohexokinase deficiency Carnitine uptake deficiency Carnitine brain transporter deficiency Primary systemic carnitine deficiency Orphanet ID- 3316 OMIM:212140 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 Carnitine brain transporter deficiency Gene [OrphaNum:118781 ; Name:Solute carrier family 22 (organic cation transporter), member 5 ; Symbol:SLC22A5 ; xref: GENATLAS:SLC22A5 ; xref: HGNC:10969 ; xref: OMIM:603377 ; xref: UNIPROTKB/SWISSPROT:O76082 ; xref: REACTOME:O76082 ; xref: ENSEMBL:ENSG00000197375] ICD10:E71.3 Primary systemic carnitine deficiency EXACT Carnitine brain transporter deficiency EXACT Primary systemic carnitine deficiency Distal monosomy 7q36 Distal deletion 7q36 Monosomy 7qter Telomeric deletion 7q36 ICD10:Q93.5 OMIM:252270 Distal deletion 7q36 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636 Telomeric deletion 7q36 Monosomy 7qter Orphanet ID- 332 EXACT Monosomy 7qter EXACT Telomeric deletion 7q36 EXACT Distal deletion 7q36 Benign familial epilepsy of childhood with rolandic spikes Autosomal dominant BECRS Centrotemporal epilepsy Centrotemporal epilepsy Orphanet ID- 3321 Gene [OrphaNum:119862 ; Name:Sushi-repeat-containing protein, X-linked 2 ; Symbol:SRPX2 ; xref: GENATLAS:SRPX2 ; xref: HGNC:30668 ; xref: OMIM:300642 ; xref: UNIPROTKB/SWISSPROT:O60687 ; xref: ENSEMBL:ENSG00000102359] OMIM:117100 ICD10:G40.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 Autosomal dominant BECRS prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Autosomal dominant BECRS EXACT Centrotemporal epilepsy Distal monosomy 8p Distal deletion 8p Monosomy 8pter Telomeric deletion 8p Telomeric deletion 8p Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1637 Distal deletion 8p prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q93.5 Monosomy 8pter Orphanet ID- 333 EXACT Telomeric deletion 8p EXACT Distal deletion 8p EXACT Monosomy 8pter Congenital fibrinogen deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335 ICD10:D68.2 Orphanet ID- 3331 OMIM:202400 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Congenital alpha2 antiplasmin deficiency Orphanet ID- 3335 ICD10:D68.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:201277 ; Name:Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 ; Symbol:SERPINF2 ; xref: REACTOME:P08697 ; xref: ENSEMBL:ENSG00000167711 ; xref: GENATLAS:SERPINF2 ; xref: HGNC:9075 ; xref: OMIM:613168 ; xref: UNIPROTKB/SWISSPROT:P08697] OMIM:262850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 Congenital factor XIII deficiency Fibrin-stabilizing factor deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; OMIM:613235 Fibrin-stabilizing factor deficiency Gene [OrphaNum:121665 ; Name:Coagulation factor XIII, A1 polypeptide ; Symbol:F13A1 ; xref: GENATLAS:F13A1 ; xref: HGNC:3531 ; xref: OMIM:134570 ; xref: UNIPROTKB/SWISSPROT:P00488 ; xref: REACTOME:P00488 ; xref: ENSEMBL:ENSG00000124491] Gene [OrphaNum:121668 ; Name:Coagulation factor XIII, B polypeptide ; Symbol:F13B ; xref: GENATLAS:F13B ; xref: HGNC:3534 ; xref: OMIM:134580 ; xref: UNIPROTKB/SWISSPROT:P05160 ; xref: ENSEMBL:ENSG00000143278 ; xref: REACTOME:P05160] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331 ICD10:D68.2 Orphanet ID- 3336 OMIM:613225 EXACT Fibrin-stabilizing factor deficiency Frontotemporal dementia FTD OMIM:600274 Orphanet ID- 3338 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 ICD10:G31.0 OMIM:607485 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:172700 FTD OMIM:600795 EXACT FTD Distal monosomy 9p Distal deletion 9p Monosomy 9pter Telomeric deletion 9p Orphanet ID- 334 OMIM:154230 OMIM:158170 ICD10:Q93.5 Distal deletion 9p Monosomy 9pter prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Telomeric deletion 9p Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 EXACT Telomeric deletion 9p EXACT Monosomy 9pter EXACT Distal deletion 9p Carnitine-acylcarnitine translocase deficiency OMIM:212138 ICD10:E71.3 Orphanet ID- 3343 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 Gene [OrphaNum:118799 ; Name:Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 ; Symbol:SLC25A20 ; xref: GENATLAS:SLC25A20 ; xref: HGNC:1421 ; xref: OMIM:613698 ; xref: UNIPROTKB/SWISSPROT:O43772 ; xref: REACTOME:O43772 ; xref: ENSEMBL:ENSG00000178537] Gyrate atrophy of choroid and retina HOGA Hyperornithinemia Hyperornithinemia - gyrate atrophy of choroid and retina Ornithine aminotransferase deficiency OMIM:258870 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 HOGA Gene [OrphaNum:123971 ; Name:Ornithine aminotransferase (gyrate atrophy) ; Symbol:OAT ; xref: GENATLAS:OAT ; xref: HGNC:8091 ; xref: UNIPROTKB/SWISSPROT:P04181 ; xref: OMIM:613349 ; xref: REACTOME:P04181 ; xref: ENSEMBL:ENSG00000065154] Orphanet ID- 3349 Ornithine aminotransferase deficiency Hyperornithinemia ICD10:E72.4 Hyperornithinemia - gyrate atrophy of choroid and retina EXACT HOGA EXACT Hyperornithinemia - gyrate atrophy of choroid and retina EXACT Hyperornithinemia EXACT Ornithine aminotransferase deficiency 47,XYY syndrome Disomy Y Double y prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Double y Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8 Disomy Y ICD10:Q98.5 Orphanet ID- 335 EXACT Disomy Y EXACT Double y Methylcobalamin deficiency type cblG Homocystinuria due to methionine synthase deficiency, CblG type Homocystinuria due to methionine synthase deficiency, CblG type Gene [OrphaNum:123572 ; Name:5-methyltetrahydrofolate-homocysteine methyltransferase ; Symbol:MTR ; xref: GENATLAS:MTR ; xref: HGNC:7468 ; xref: OMIM:156570 ; xref: UNIPROTKB/SWISSPROT:Q99707 ; xref: ENSEMBL:ENSG00000116984 ; xref: REACTOME:Q99707] OMIM:250940 ICD10:E72.1 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3351 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 EXACT Homocystinuria due to methionine synthase deficiency, CblG type Hyperlysinemia Hyperlysinemia type I Lysine alpha-ketoglutarate reductase deficiency OMIM:238710 OMIM:238700 Orphanet ID- 3353 Hyperlysinemia type I ICD10:E72.3 Lysine alpha-ketoglutarate reductase deficiency prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 Gene [OrphaNum:123389 ; Name:Aminoadipate-semialdehyde synthase gene ; Symbol:AASS ; xref: GENATLAS:AASS ; xref: HGNC:17366 ; xref: OMIM:605113 ; xref: UNIPROTKB/SWISSPROT:Q9UDR5 ; xref: ENSEMBL:ENSG00000008311 ; xref: REACTOME:Q9UDR5] EXACT Lysine alpha-ketoglutarate reductase deficiency EXACT Hyperlysinemia type I Saccharopinuria Hyperlysinemia type II Saccharopine dehydrogenase deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Hyperlysinemia type II Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 Orphanet ID- 3354 ICD10:E72.3 Gene [OrphaNum:123389 ; Name:Aminoadipate-semialdehyde synthase gene ; Symbol:AASS ; xref: GENATLAS:AASS ; xref: HGNC:17366 ; xref: OMIM:605113 ; xref: UNIPROTKB/SWISSPROT:Q9UDR5 ; xref: ENSEMBL:ENSG00000008311 ; xref: REACTOME:Q9UDR5] Saccharopine dehydrogenase deficiency OMIM:268700 EXACT Hyperlysinemia type II EXACT Saccharopine dehydrogenase deficiency Histidinemia Histidase deficiency prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:E70.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 OMIM:235800 Histidase deficiency Orphanet ID- 3355 Gene [OrphaNum:122361 ; Name:Histidine ammonia-lyase ; Symbol:HAL ; xref: GENATLAS:HAL ; xref: HGNC:4806 ; xref: OMIM:609457 ; xref: UNIPROTKB/SWISSPROT:P42357 ; xref: REACTOME:P42357 ; xref: ENSEMBL:ENSG00000084110] EXACT Histidase deficiency Dicarboxylicaminoaciduria Glutamate-aspartate transport defect prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:222730 ICD10:E72.0 Orphanet ID- 3356 Glutamate-aspartate transport defect Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 EXACT Glutamate-aspartate transport defect Homocarnosinosis Homocarnosinase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:E72.8 OMIM:236130 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2168 Homocarnosinase deficiency Orphanet ID- 3357 EXACT Homocarnosinase deficiency Protein R deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:193090 Orphanet ID- 3358 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967 Congenital intrinsic factor deficiency Congenital pernicious anemia Gastric intrinsic factor deficiency Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency IFD Intrinsic factor deficiency OMIM:261000 Intrinsic factor deficiency Orphanet ID- 3359 Gastric intrinsic factor deficiency IFD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 Congenital pernicious anemia OMIM:243320 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; ICD10:D51.0 Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency Gene [OrphaNum:122099 ; Name:Gastric intrinsic factor (vitamin B synthesis) ; Symbol:GIF ; xref: GENATLAS:GIF ; xref: HGNC:4268 ; xref: OMIM:609342 ; xref: UNIPROTKB/SWISSPROT:P27352 ; xref: ENSEMBL:ENSG00000134812] EXACT IFD EXACT Congenital pernicious anemia EXACT Gastric intrinsic factor deficiency EXACT Intrinsic factor deficiency EXACT Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency D-glycericacidemia D-glycerate kinase deficiency D-glycerate kinase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 OMIM:220120 Gene [OrphaNum:260595 ; Name:glycerate kinase ; Symbol:GLYCTK ; xref: ENSEMBL:ENSG00000168237 ; xref: HGNC:24247 ; xref: OMIM:610516 ; xref: GENATLAS:GLYCTK ; xref: UNIPROTKB/SWISSPROT:Q8IVS8] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 3360 EXACT D-glycerate kinase deficiency 2-hydroxyglutaric aciduria 2-hydroxyglutaric acidemia OMIM:613657 OMIM:236792 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 Orphanet ID- 3362 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; 2-hydroxyglutaric acidemia OMIM:600721 EXACT 2-hydroxyglutaric acidemia Pentosuria Essential pentosuria Xylitol dehydrogenase deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3363 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 Xylitol dehydrogenase deficiency ICD10:E74.8 Gene [OrphaNum:274023 ; Name:dicarbonyl/L-xylulose reductase ; Symbol:DCXR ; xref: ENSEMBL:ENSG00000169738 ; xref: HGNC:18985 ; xref: OMIM:608347 ; xref: GENATLAS:DCXR ; xref: UNIPROTKB/SWISSPROT:Q7Z4W1] Essential pentosuria OMIM:260800 EXACT Essential pentosuria EXACT Xylitol dehydrogenase deficiency Cystathioninuria Cystathionase deficiency Cystathione gamma - lyase deficiency Gamma-cystathionase deficiency Gamma-cystathionase deficiency OMIM:219500 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 3365 Cystathione gamma - lyase deficiency Cystathionase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 ICD10:E72.1 Gene [OrphaNum:120876 ; Name:Cystathionase (cystathionine gamma-lyase) ; Symbol:CTH ; xref: GENATLAS:CTH ; xref: HGNC:2501 ; xref: OMIM:607657 ; xref: UNIPROTKB/SWISSPROT:P32929 ; xref: ENSEMBL:ENSG00000116761 ; xref: REACTOME:P32929] EXACT Gamma-cystathionase deficiency EXACT Cystathionase deficiency EXACT Cystathione gamma - lyase deficiency Lysinuric protein intolerance Hyperdibasic aminoaciduria type 2 LPI LPI prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Hyperdibasic aminoaciduria type 2 OMIM:222700 Gene [OrphaNum:119709 ; Name:Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 ; Symbol:SLC7A7 ; xref: GENATLAS:SLC7A7 ; xref: HGNC:11065 ; xref: OMIM:603593 ; xref: UNIPROTKB/SWISSPROT:Q9UM01 ; xref: ENSEMBL:ENSG00000155465 ; xref: REACTOME:Q9UM01] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 Orphanet ID- 3366 ICD10:E72.0 EXACT LPI EXACT Hyperdibasic aminoaciduria type 2 Hyperdibasic aminoaciduria type 1 OMIM:222690 ICD10:E72.0 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3367 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1032 Homocystinuria without methylmalonic acidemia Functional methionine synthase deficiency Homocystinuria without methylmalonic aciduria Methylcobalamin deficiency Methylcobalamin deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Homocystinuria without methylmalonic aciduria Functional methionine synthase deficiency ICD10:E72.1 Orphanet ID- 3369 EXACT Homocystinuria without methylmalonic aciduria EXACT Functional methionine synthase deficiency EXACT Methylcobalamin deficiency Trisomy 13 Patau syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 ICD10:Q91.4 ICD10:Q91.5 ICD10:Q91.6 ICD10:Q91.7 Orphanet ID- 337 Patau syndrome EXACT Patau syndrome Hyperammonemia due to N-acetylglutamate synthetase deficiency NAGS deficiency ICD10:E72.2 Gene [OrphaNum:123675 ; Name:N-acetylglutamate synthase ; Symbol:NAGS ; xref: GENATLAS:NAGS ; xref: HGNC:17996 ; xref: OMIM:608300 ; xref: UNIPROTKB/SWISSPROT:Q8N159 ; xref: ENSEMBL:ENSG00000161653 ; xref: REACTOME:Q8N159] prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 3370 OMIM:237310 NAGS deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 EXACT NAGS deficiency Tyrosine oxidase temporary deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3372 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402 ICD10:E70.2 Pipecolic acidemia Hyperpipecolatemia Hyperpipecolatemia prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:239400 ICD10:E71.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34 Orphanet ID- 3373 EXACT Hyperpipecolatemia Phosphoenolpyruvate carboxykinase deficiency PEPCK deficiency Gene [OrphaNum:124123 ; Name:Phosphoenolpyruvate carboxykinase 1 (soluble) ; Symbol:PCK1 ; xref: GENATLAS:PCK1 ; xref: HGNC:8724 ; xref: UNIPROTKB/SWISSPROT:P35558 ; xref: OMIM:614168 ; xref: REACTOME:P35558 ; xref: ENSEMBL:ENSG00000124253] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 PEPCK deficiency Gene [OrphaNum:124125 ; Name:Phosphoenolpyruvate carboxykinase 2 (mitochondrial) ; Symbol:PCK2 ; xref: GENATLAS:PCK2 ; xref: HGNC:8725 ; xref: UNIPROTKB/SWISSPROT:Q16822 ; xref: OMIM:614095 ; xref: ENSEMBL:ENSG00000100889 ; xref: REACTOME:Q16822] OMIM:261650 ICD10:E74.4 OMIM:261680 Orphanet ID- 3374 EXACT PEPCK deficiency Fumaric aciduria Fumarase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E88.8 Gene [OrphaNum:121823 ; Name:Fumarate hydratase ; Symbol:FH ; xref: GENATLAS:FH ; xref: HGNC:3700 ; xref: OMIM:136850 ; xref: UNIPROTKB/SWISSPROT:P07954 ; xref: REACTOME:P07954 ; xref: ENSEMBL:ENSG00000091483] OMIM:606812 Fumarase deficiency Orphanet ID- 3376 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 EXACT Fumarase deficiency Isolated succinate-CoQ reductase deficiency Isolated mitochondrial respiratory chain complex II deficiency Isolated succinate-coenzyme Q reductase deficiency Isolated succinate-ubiquinone reductase deficiency Gene [OrphaNum:118549 ; Name:Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ; Symbol:SDHA ; xref: OMIM:600857 ; xref: UNIPROTKB/SWISSPROT:P31040 ; xref: GENATLAS:SDHA ; xref: HGNC:10680 ; xref: ENSEMBL:ENSG00000073578 ; xref: REACTOME:P31040] ICD10:G71.3 Gene [OrphaNum:201507 ; Name:Succinate dehydrogenase complex assembly factor 1 ; Symbol:SDHAF1 ; xref: ENSEMBL:ENSG00000205138 ; xref: HGNC:33867 ; xref: OMIM:612848 ; xref: UNIPROTKB/SWISSPROT:A6NFY7 ; xref: GENATLAS:SDHAF1] Isolated succinate-coenzyme Q reductase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Isolated succinate-ubiquinone reductase deficiency Orphanet ID- 3377 OMIM:252011 Isolated mitochondrial respiratory chain complex II deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 EXACT Isolated mitochondrial respiratory chain complex II deficiency EXACT Isolated succinate-coenzyme Q reductase deficiency EXACT Isolated succinate-ubiquinone reductase deficiency Isolated CoQ-cytochrome C reductase deficiency Isolated coenzyme Q-cytochrome C reductase deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated ubiquinone-cytochrome C reductase deficiency Gene [OrphaNum:119021 ; Name:BCS1-like ; Symbol:BCS1L ; xref: GENATLAS:BCS1L ; xref: HGNC:1020 ; xref: OMIM:603647 ; xref: UNIPROTKB/SWISSPROT:Q9Y276 ; xref: ENSEMBL:ENSG00000074582 ; xref: REACTOME:Q9Y276] Gene [OrphaNum:159955 ; Name:Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa ; Symbol:UQCRQ ; xref: GENATLAS:UQCRQ ; xref: HGNC:29594 ; xref: OMIM:612080 ; xref: UNIPROTKB/SWISSPROT:O14949 ; xref: REACTOME:O14949 ; xref: ENSEMBL:ENSG00000164405] Isolated coenzyme Q-cytochrome C reductase deficiency Gene [OrphaNum:123524 ; Name:Mitochondrially encoded cytochrome b ; Symbol:MT-CYB ; xref: REACTOME:P00156 ; xref: GENATLAS:MT-CYB ; xref: HGNC:7427 ; xref: OMIM:516020 ; xref: UNIPROTKB/SWISSPROT:P00156 ; xref: ENSEMBL:ENSG00000198727] OMIM:124000 Gene [OrphaNum:166726 ; Name:Ubiquinol-cytochrome c reductase binding protein ; Symbol:UQCRB ; xref: GENATLAS:UQCRB ; xref: HGNC:12582 ; xref: OMIM:191330 ; xref: UNIPROTKB/SWISSPROT:P14927 ; xref: ENSEMBL:ENSG00000156467 ; xref: REACTOME:P14927] Isolated mitochondrial respiratory chain complex III deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:260358 ; Name:tetratricopeptide repeat domain 19 ; Symbol:TTC19 ; xref: ENSEMBL:ENSG00000011295 ; xref: HGNC:26006 ; xref: OMIM:613814 ; xref: GENATLAS:TTC19 ; xref: UNIPROTKB/SWISSPROT:Q6DKK2] Orphanet ID- 3378 Isolated ubiquinone-cytochrome C reductase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 ICD10:G71.3 EXACT Isolated mitochondrial respiratory chain complex III deficiency EXACT Isolated coenzyme Q-cytochrome C reductase deficiency EXACT Isolated ubiquinone-cytochrome C reductase deficiency Fatal infantile cytochrome C oxidase deficiency Fatal infantile COX deficiency Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency Gene [OrphaNum:269639 ; Name:alanyl-tRNA synthetase 2, mitochondrial (putative) ; Symbol:AARS2 ; xref: HGNC:21022 ; xref: OMIM:612035 ; xref: GENATLAS:AARS2 ; xref: UNIPROTKB/SWISSPROT:Q5JTZ9 ; xref: ENSEMBL:ENSG00000124608 ; xref: REACTOME:Q5JTZ9] Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency Gene [OrphaNum:119904 ; Name:Surfeit 1 ; Symbol:SURF1 ; xref: GENATLAS:SURF1 ; xref: HGNC:11474 ; xref: OMIM:185620 ; xref: UNIPROTKB/SWISSPROT:Q15526 ; xref: ENSEMBL:ENSG00000148290] OMIM:604377 Orphanet ID- 3379 ICD10:G71.3 Fatal infantile COX deficiency Gene [OrphaNum:118543 ; Name:SCO cytochrome oxidase deficient homolog 1 (yeast) ; Symbol:SCO1 ; xref: GENATLAS:SCO1 ; xref: HGNC:10603 ; xref: OMIM:603644 ; xref: UNIPROTKB/SWISSPROT:O75880 ; xref: ENSEMBL:ENSG00000133028] Gene [OrphaNum:118546 ; Name:SCO cytochrome oxidase deficient homolog 2 (yeast) ; Symbol:SCO2 ; xref: GENATLAS:SCO2 ; xref: HGNC:10604 ; xref: OMIM:604272 ; xref: UNIPROTKB/SWISSPROT:O43819 ; xref: ENSEMBL:ENSG00000130489] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 Gene [OrphaNum:120774 ; Name:COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) ; Symbol:COX10 ; xref: GENATLAS:COX10 ; xref: HGNC:2260 ; xref: OMIM:602125 ; xref: UNIPROTKB/SWISSPROT:Q12887 ; xref: ENSEMBL:ENSG00000006695] Gene [OrphaNum:120776 ; Name:COX15 homolog, cytochrome c oxidase assembly protein (yeast) ; Symbol:COX15 ; xref: GENATLAS:COX15 ; xref: HGNC:2263 ; xref: OMIM:603646 ; xref: UNIPROTKB/SWISSPROT:Q7KZN9 ; xref: ENSEMBL:ENSG00000014919] prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; EXACT Fatal infantile COX deficiency EXACT Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency Distal trisomy 15q Distal duplication 15q Telomeric duplication 15q Trisomy 15qter Distal duplication 15q Trisomy 15qter Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.3 Orphanet ID- 338 Telomeric duplication 15q EXACT Trisomy 15qter EXACT Telomeric duplication 15q EXACT Distal duplication 15q Anemia due to adenosine triphosphatase deficiency ICD10:D55.3 Orphanet ID- 3380 prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal dominant; OMIM:102800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1044 Paris-Trousseau thrombocytopenia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 Orphanet ID- 3381 Gene [OrphaNum:121846 ; Name:Friend leukemia virus integration 1 ; Symbol:FLI1 ; xref: GENATLAS:FLI1 ; xref: HGNC:3749 ; xref: OMIM:193067 ; xref: UNIPROTKB/SWISSPROT:Q01543 ; xref: ENSEMBL:ENSG00000151702] ICD10:D69.4 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:188025 Glanzmann thrombasthenia Gene [OrphaNum:122704 ; Name:Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) ; Symbol:ITGB3 ; xref: GENATLAS:ITGB3 ; xref: HGNC:6156 ; xref: OMIM:173470 ; xref: UNIPROTKB/SWISSPROT:P05106 ; xref: ENSEMBL:ENSG00000259207 ; xref: REACTOME:P05106] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:122690 ; Name:Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) ; Symbol:ITGA2B ; xref: GENATLAS:ITGA2B ; xref: HGNC:6138 ; xref: OMIM:607759 ; xref: UNIPROTKB/SWISSPROT:P08514 ; xref: ENSEMBL:ENSG00000005961 ; xref: REACTOME:P08514] OMIM:187800 ICD10:D69.1 Orphanet ID- 3382 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 OMIM:273800 Hereditary thrombophilia due to congenital protein C deficiency OMIM:612304 ICD10:D68.2 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 Gene [OrphaNum:118030 ; Name:Protein C (inactivator of coagulation factors Va and VIIIa) ; Symbol:PROC ; xref: GENATLAS:PROC ; xref: HGNC:9451 ; xref: OMIM:612283 ; xref: UNIPROTKB/SWISSPROT:P04070 ; xref: ENSEMBL:ENSG00000115718 ; xref: REACTOME:P04070] OMIM:176860 Orphanet ID- 3383 Hereditary breast and ovarian cancer syndrome OMIM:614291 Gene [OrphaNum:119080 ; Name:BRCA1 interacting protein C-terminal helicase 1 ; Symbol:BRIP1 ; xref: GENATLAS:BRIP1 ; xref: HGNC:20473 ; xref: OMIM:605882 ; xref: UNIPROTKB/SWISSPROT:Q9BX63 ; xref: ENSEMBL:ENSG00000136492 ; xref: REACTOME:Q9BX63] Gene [OrphaNum:123688 ; Name:Nibrin ; Symbol:NBN ; xref: GENATLAS:NBN ; xref: HGNC:7652 ; xref: OMIM:602667 ; xref: UNIPROTKB/SWISSPROT:O60934 ; xref: ENSEMBL:ENSG00000104320 ; xref: REACTOME:O60934] OMIM:604370 Gene [OrphaNum:242004 ; Name:RAD50 homolog (S. cerevisiae) ; Symbol:RAD50 ; xref: GENATLAS:RAD50 ; xref: HGNC:9816 ; xref: UNIPROTKB/SWISSPROT:Q92878 ; xref: GENATLAS:604040 ; xref: REACTOME:Q92878 ; xref: ENSEMBL:ENSG00000113522] Gene [OrphaNum:201093 ; Name:BRCA1 associated RING domain 1 ; Symbol:BARD1 ; xref: GENATLAS:BARD1 ; xref: HGNC:952 ; xref: OMIM:601593 ; xref: UNIPROTKB/SWISSPROT:Q99728 ; xref: ENSEMBL:ENSG00000138376] Gene [OrphaNum:297209 ; Name:RAD51 homolog D (S. cerevisiae) ; Symbol:RAD51D ; xref: OMIM:602954 ; xref: UNIPROTKB/SWISSPROT:O75771 ; xref: GENATLAS:RAD51L3 ; xref: HGNC:9823] Gene [OrphaNum:118208 ; Name:RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) ; Symbol:RAD51 ; xref: GENATLAS:RAD51 ; xref: HGNC:9817 ; xref: OMIM:179617 ; xref: UNIPROTKB/SWISSPROT:Q06609 ; xref: REACTOME:Q06609 ; xref: ENSEMBL:ENSG00000051180] ICD10:C50.9 Gene [OrphaNum:139189 ; Name:Partner and localizer of BRCA2 ; Symbol:PALB2 ; xref: GENATLAS:PALB2 ; xref: HGNC:26144 ; xref: OMIM:610355 ; xref: UNIPROTKB/SWISSPROT:Q86YC2 ; xref: REACTOME:Q86YC2 ; xref: ENSEMBL:ENSG00000083093] Gene [OrphaNum:119068 ; Name:Breast cancer 1, early onset ; Symbol:BRCA1 ; xref: GENATLAS:BRCA1 ; xref: HGNC:1100 ; xref: OMIM:113705 ; xref: UNIPROTKB/SWISSPROT:P38398 ; xref: REACTOME:P38398 ; xref: ENSEMBL:ENSG00000012048] Gene [OrphaNum:229784 ; Name:RAD51 homolog C (S. cerevisiae) ; Symbol:RAD51C ; xref: REACTOME:O43502 ; xref: ENSEMBL:ENSG00000108384 ; xref: HGNC:9820 ; xref: GENATLAS:RAD51C ; xref: OMIM:602774 ; xref: UNIPROTKB/SWISSPROT:O43502] OMIM:612555 OMIM:600048 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=145 Gene [OrphaNum:119072 ; Name:Breast cancer 2, early onset ; Symbol:BRCA2 ; xref: GENATLAS:BRCA2 ; xref: HGNC:1101 ; xref: OMIM:600185 ; xref: UNIPROTKB/SWISSPROT:P51587 ; xref: REACTOME:P51587 ; xref: ENSEMBL:ENSG00000139618] prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:118128 ; Name:Phosphatase and tensin homolog ; Symbol:PTEN ; xref: GENATLAS:PTEN ; xref: HGNC:9588 ; xref: OMIM:601728 ; xref: UNIPROTKB/SWISSPROT:P60484 ; xref: REACTOME:P60484 ; xref: ENSEMBL:ENSG00000171862] Gene [OrphaNum:119394 ; Name:CHK2 checkpoint homolog (S. pombe) ; Symbol:CHEK2 ; xref: OMIM:604373 ; xref: UNIPROTKB/SWISSPROT:O96017 ; xref: GENATLAS:CHEK2 ; xref: HGNC:16627 ; xref: REACTOME:O96017 ; xref: ENSEMBL:ENSG00000183765] OMIM:613399 OMIM:114480 Orphanet ID- 3384 Gene [OrphaNum:123483 ; Name:MRE11 meiotic recombination 11 homolog A (S. cerevisiae) ; Symbol:MRE11A ; xref: GENATLAS:MRE11A ; xref: HGNC:7230 ; xref: OMIM:600814 ; xref: UNIPROTKB/SWISSPROT:P49959 ; xref: ENSEMBL:ENSG00000020922 ; xref: REACTOME:P49959] ICD10:Z80.3 OMIM:605365 Lymphangioleiomyomatosis LAM LAM ICD10:I89.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538 OMIM:606690 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 3386 Gene [OrphaNum:120315 ; Name:Tuberous sclerosis 2 ; Symbol:TSC2 ; xref: GENATLAS:TSC2 ; xref: HGNC:12363 ; xref: OMIM:191092 ; xref: UNIPROTKB/SWISSPROT:P49815 ; xref: ENSEMBL:ENSG00000103197 ; xref: REACTOME:P49815] Gene [OrphaNum:120309 ; Name:Tuberous sclerosis 1 ; Symbol:TSC1 ; xref: GENATLAS:TSC1 ; xref: HGNC:12362 ; xref: OMIM:605284 ; xref: UNIPROTKB/SWISSPROT:Q92574 ; xref: ENSEMBL:ENSG00000165699 ; xref: REACTOME:Q92574] EXACT LAM Prolactinoma Lactotroph adenoma Pituitary lactotrophic adenoma Pituitary lactotrophic adenoma Orphanet ID- 3387 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Lactotroph adenoma OMIM:600634 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2965 ICD10:D35.2 ICD10:E22.1 EXACT Pituitary lactotrophic adenoma EXACT Lactotroph adenoma Trisomy 18 Chromosome 18 duplication Edwards syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic; Orphanet ID- 339 Chromosome 18 duplication Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 Edwards syndrome ICD10:Q91.0 ICD10:Q91.1 ICD10:Q91.2 ICD10:Q91.3 EXACT Chromosome 18 duplication EXACT Edwards syndrome Dehydratase deficiency Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency ICD10:E70.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 OMIM:264070 Orphanet ID- 3391 Hyperphenylalaninemia due to dehydratase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:124110 ; Name:Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) ; Symbol:PCBD1 ; xref: GENATLAS:PCBD1 ; xref: HGNC:8646 ; xref: OMIM:126090 ; xref: UNIPROTKB/SWISSPROT:P61457 ; xref: REACTOME:P61457 ; xref: ENSEMBL:ENSG00000166228] Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency EXACT Hyperphenylalaninemia due to dehydratase deficiency EXACT Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency CINCA syndrome Chronic infantile neurological cutaneous articular syndrome IOMID syndrome Infantile Onset Multisystem Inflammatory Disease NOMID syndrome Neonatal Onset Multisystem Inflammatory Disease Prieur-Griscelli syndrome Neonatal Onset Multisystem Inflammatory Disease prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:123821 ; Name:NLR family, pyrin domain containing 3 ; Symbol:NLRP3 ; xref: GENATLAS:NLRP3 ; xref: HGNC:16400 ; xref: OMIM:606416 ; xref: UNIPROTKB/SWISSPROT:Q96P20 ; xref: ENSEMBL:ENSG00000162711 ; xref: REACTOME:Q96P20] Infantile Onset Multisystem Inflammatory Disease Chronic infantile neurological cutaneous articular syndrome Orphanet ID- 3395 ICD10:L50.8 ICD10:M08.9 OMIM:607115 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 IOMID syndrome Prieur-Griscelli syndrome ICD10:G03.1 ICD10:G44.8 NOMID syndrome EXACT NOMID syndrome EXACT Chronic infantile neurological cutaneous articular syndrome EXACT IOMID syndrome EXACT Prieur-Griscelli syndrome EXACT Infantile Onset Multisystem Inflammatory Disease EXACT Neonatal Onset Multisystem Inflammatory Disease Trisomy 18p Duplication 18p Short arm of chromosome 18 duplication Short arm of chromosome 18 trisomy Short arm of chromosome 18 duplication Orphanet ID- 340 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Short arm of chromosome 18 trisomy Duplication 18p ICD10:Q92.2 EXACT Duplication 18p EXACT Short arm of chromosome 18 duplication EXACT Short arm of chromosome 18 trisomy Distal trisomy 18q Distal duplication 18q Telomeric duplication 18q Trisomy 18qter Trisomy 18qter prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716 ICD10:Q92.3 Distal duplication 18q Telomeric duplication 18q Orphanet ID- 341 EXACT Telomeric duplication 18q EXACT Distal duplication 18q EXACT Trisomy 18qter Congenital microcoria Miosis, congenital Miosis, congenital Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 OMIM:156600 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 3414 EXACT Miosis, congenital Optic pathway glioma ICD10:C72.3 Orphanet ID- 3418 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2086 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Sporadic; Opitz BBB/G syndrome G syndrome Hypospadias - dysphaghia Hypospadias - hypertelorism Opitz-Frias syndrome X-linked BBB syndrome X-linked Opitz G/BBB syndrome X-linked Opitz syndrome G syndrome X-linked Opitz G/BBB syndrome X-linked Opitz syndrome OMIM:300000 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked recessive; Hypospadias - hypertelorism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 Opitz-Frias syndrome Orphanet ID- 3423 Gene [OrphaNum:123221 ; Name:Midline 1 (Opitz/BBB syndrome) ; Symbol:MID1 ; xref: GENATLAS:MID1 ; xref: HGNC:7095 ; xref: OMIM:300552 ; xref: UNIPROTKB/SWISSPROT:O15344 ; xref: ENSEMBL:ENSG00000101871] X-linked BBB syndrome OMIM:145410 Hypospadias - dysphaghia EXACT G syndrome EXACT X-linked Opitz syndrome EXACT Opitz-Frias syndrome EXACT Hypospadias - dysphaghia EXACT X-linked BBB syndrome EXACT Hypospadias - hypertelorism EXACT X-linked Opitz G/BBB syndrome 22q11.2 microduplication syndrome Dup22q11 Duplication 22q11.2 Trisomy 22q11.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Dup22q11 ICD10:Q92.3 Duplication 22q11.2 Trisomy 22q11.2 Gene [OrphaNum:119953 ; Name:T-box 1 ; Symbol:TBX1 ; xref: GENATLAS:TBX1 ; xref: HGNC:11592 ; xref: OMIM:602054 ; xref: UNIPROTKB/SWISSPROT:O43435 ; xref: ENSEMBL:ENSG00000184058] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727 OMIM:608363 Orphanet ID- 343 EXACT Dup22q11 EXACT Duplication 22q11.2 EXACT Trisomy 22q11.2 Congenital valvular dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1864 ICD10:Q24.8 Gene [OrphaNum:121853 ; Name:Filamin A, alpha (actin binding protein 280) ; Symbol:FLNA ; xref: GENATLAS:FLNA ; xref: HGNC:3754 ; xref: OMIM:300017 ; xref: UNIPROTKB/SWISSPROT:P21333 ; xref: ENSEMBL:ENSG00000196924 ; xref: REACTOME:P21333] Orphanet ID- 3439 OMIM:314400 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Pulmonary arteriovenous fistula Pulmonar arteriovenous aneurysm Orphanet ID- 3441 Pulmonar arteriovenous aneurysm ICD10:Q25.7 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 OMIM:265140 EXACT Pulmonar arteriovenous aneurysm Idiopathic and/or familial pulmonary arterial hypertension Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422 ICD10:I27.0 OMIM:265400 Orphanet ID- 3444 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:178600 Double outlet right ventricle DORV Gene [OrphaNum:119359 ; Name:Cripto, FRL-1, cryptic family 1 ; Symbol:CFC1 ; xref: GENATLAS:CFC1 ; xref: HGNC:18292 ; xref: OMIM:605194 ; xref: UNIPROTKB/SWISSPROT:Q9GZR3 ; xref: REACTOME:Q9GZR3 ; xref: ENSEMBL:ENSG00000136698] Gene [OrphaNum:166892 ; Name:Growth differentiation factor 1 ; Symbol:GDF1 ; xref: GENATLAS:GDF1 ; xref: ENSEMBL:ENSG00000130283 ; xref: HGNC:4214 ; xref: OMIM:602880 ; xref: UNIPROTKB/SWISSPROT:P27539 ; xref: REACTOME:P27539] Orphanet ID- 3450 ICD10:Q20.1 OMIM:217095 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; DORV EXACT DORV Congenital pulmonary sequestration Congenital bronchopulmonary sequestration Congenital bronchopulmonary sequestration Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161 Orphanet ID- 3457 ICD10:Q33.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Congenital bronchopulmonary sequestration Congenital pulmonary veins stenosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 ICD10:Q26.4 Orphanet ID- 3459 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Trisomy 9p Duplication 9p Short arm of chromosome 9 duplication Short arm of chromosome 9 trisomy Short arm of chromosome 9 duplication Duplication 9p Orphanet ID- 346 Short arm of chromosome 9 trisomy ICD10:Q92.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Short arm of chromosome 9 duplication EXACT Duplication 9p EXACT Short arm of chromosome 9 trisomy Scimitar syndrome Congenital pulmonary venolobar syndrome Epibronchial right pulmonary artery syndrome Halasz syndrome Hypogenetic lung syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 ICD10:Q26.8 Orphanet ID- 3462 Congenital pulmonary venolobar syndrome OMIM:106700 Halasz syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Hypogenetic lung syndrome Epibronchial right pulmonary artery syndrome EXACT Epibronchial right pulmonary artery syndrome EXACT Hypogenetic lung syndrome EXACT Congenital pulmonary venolobar syndrome EXACT Halasz syndrome Congenitally uncorrected transposition of the great arteries prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860 Orphanet ID- 3463 Autoimmune lymphoproliferative syndrome ALPS Canale-Smith syndrome FAS deficiency http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37864 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; FAS deficiency Gene [OrphaNum:121740 ; Name:Fas ligand (TNF superfamily, member 6) ; Symbol:FASLG ; xref: GENATLAS:FASLG ; xref: HGNC:11936 ; xref: OMIM:134638 ; xref: UNIPROTKB/SWISSPROT:P48023 ; xref: ENSEMBL:ENSG00000117560 ; xref: REACTOME:P48023] Canale-Smith syndrome Gene [OrphaNum:119179 ; Name:Caspase 10, apoptosis-related cysteine peptidase ; Symbol:CASP10 ; xref: GENATLAS:CASP10 ; xref: HGNC:1500 ; xref: OMIM:601762 ; xref: UNIPROTKB/SWISSPROT:Q92851 ; xref: ENSEMBL:ENSG00000003400 ; xref: REACTOME:Q92851] OMIM:601859 OMIM:603909 ICD10:D89.8 Gene [OrphaNum:121733 ; Name:Fas (TNF receptor superfamily, member 6) ; Symbol:FAS ; xref: GENATLAS:FAS ; xref: HGNC:11920 ; xref: OMIM:134637 ; xref: UNIPROTKB/SWISSPROT:P25445 ; xref: REACTOME:P25445 ; xref: ENSEMBL:ENSG00000026103] OMIM:607271 Orphanet ID- 3468 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 Gene [OrphaNum:138851 ; Name:Caspase 8, apoptosis-related cysteine peptidase ; Symbol:CASP8 ; xref: GENATLAS:CASP8 ; xref: HGNC:1509 ; xref: OMIM:601763 ; xref: UNIPROTKB/SWISSPROT:Q14790 ; xref: ENSEMBL:ENSG00000064012 ; xref: REACTOME:Q14790] ALPS Gene [OrphaNum:221346 ; Name:Neuroblastoma RAS viral (v-ras) oncogene homolog ; Symbol:NRAS ; xref: ENSEMBL:ENSG00000213281 ; xref: REACTOME:P01111 ; xref: GENATLAS:NRAS ; xref: HGNC:7989 ; xref: OMIM:164790 ; xref: UNIPROTKB/SWISSPROT:P01111] An autoimmune hematologic disorder characterized by autoimmune hemolytic anemia, thrombocytopenia, lymphadenopathy, hepatomegaly and splenomegaly. Patients are at an increased risk of developing Hodgkin and non-Hodgkin lymphomas. ICD10:D72.8 OMIM:614470 EXACT FAS deficiency EXACT ALPS EXACT Canale-Smith syndrome Common variable immunodeficiency CVID Idiopathic immunoglobulin deficiency Primary antibody deficiency Primary hypogammaglobulinemia true Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572 OMIM:613496 OMIM:607594 OMIM:146830 Orphanet ID- 3469 ICD10:D83 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; OMIM:614699 Primary antibody deficiency CVID OMIM:614700 Primary hypogammaglobulinemia Idiopathic immunoglobulin deficiency OMIM:613493 OMIM:613495 OMIM:240500 OMIM:613494 EXACT Primary antibody deficiency EXACT CVID EXACT Primary hypogammaglobulinemia EXACT Idiopathic immunoglobulin deficiency Perlman syndrome Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor ICD10:C64 Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3474 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 Gene [OrphaNum:293019 ; Name:DIS3 mitotic control homolog (S. cerevisiae)-like 2 ; Symbol:DIS3L2 ; xref: HGNC:28648 ; xref: UNIPROTKB/SWISSPROT:Q8IYB7 ; xref: GENATLAS:DIS3L2 ; xref: OMIM:614184] OMIM:267000 EXACT Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor Ehlers-Danlos syndrome, musculocontractural type ATCS Adducted thumb-clubfoot syndrome Adducted thumbs-arthrogryposis, Dundar type CHST14-related EDS CHST14-related Ehlers-Danlos syndrome D4ST1-deficient EDS D4ST1-deficient Ehlers-Danlos syndrome EDS kosho type EDS, arthrogryposic type EDS, musculocontractural type Ehlers-Danlos syndrome, Kosho type Ehlers-Danlos syndrome, arthrogryposic type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; CHST14-related EDS OMIM:601776 D4ST1-deficient Ehlers-Danlos syndrome Ehlers-Danlos syndrome, Kosho type Adducted thumb-clubfoot syndrome Ehlers-Danlos syndrome, arthrogryposic type EDS, musculocontractural type Gene [OrphaNum:226058 ; Name:Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 ; Symbol:CHST14 ; xref: GENATLAS:CHST14 ; xref: HGNC:24464 ; xref: OMIM:608429 ; xref: UNIPROTKB/SWISSPROT:Q8NCH0 ; xref: ENSEMBL:ENSG00000169105] ATCS ICD10:Q74.0 D4ST1-deficient EDS Adducted thumbs-arthrogryposis, Dundar type CHST14-related Ehlers-Danlos syndrome EDS, arthrogryposic type Orphanet ID- 3480 EDS kosho type EXACT D4ST1-deficient Ehlers-Danlos syndrome EXACT Ehlers-Danlos syndrome, Kosho type EXACT EDS, musculocontractural type EXACT ATCS EXACT EDS, arthrogryposic type EXACT Adducted thumbs-arthrogryposis, Dundar type EXACT Ehlers-Danlos syndrome, arthrogryposic type EXACT CHST14-related Ehlers-Danlos syndrome EXACT EDS kosho type EXACT CHST14-related EDS EXACT Adducted thumb-clubfoot syndrome EXACT D4ST1-deficient EDS Intellectual deficit - polydactyly - uncombable hair Kozlowski-Krajewska syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082 Orphanet ID- 3484 Kozlowski-Krajewska syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Kozlowski-Krajewska syndrome Axenfeld-Rieger syndrome Axenfeld syndrome Rieger syndrome Rieger syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q13.8 Gene [OrphaNum:117832 ; Name:Paired-like homeodomain 2 ; Symbol:PITX2 ; xref: GENATLAS:PITX2 ; xref: HGNC:9005 ; xref: OMIM:601542 ; xref: UNIPROTKB/SWISSPROT:Q99697 ; xref: ENSEMBL:ENSG00000164093] OMIM:602482 Orphanet ID- 3485 OMIM:180500 Gene [OrphaNum:121883 ; Name:Forkhead box C1 ; Symbol:FOXC1 ; xref: ENSEMBL:ENSG00000054598 ; xref: GENATLAS:FOXC1 ; xref: HGNC:3800 ; xref: OMIM:601090 ; xref: UNIPROTKB/SWISSPROT:Q12948] OMIM:601499 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 Axenfeld syndrome EXACT Axenfeld syndrome EXACT Rieger syndrome Syndactyly-polydactyly-ear lobe syndrome Orphanet ID- 3488 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:186350 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259 Proximal radioulnar synostosis OMIM:179300 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3489 ICD10:Q74.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 Tetrasomy 5p Isochromosome 5p Orphanet ID- 3491 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 Isochromosome 5p ICD10:Q99.8 EXACT Isochromosome 5p Distal trisomy 17q Distal duplication 17q Telomeric duplication 17q Trisomy 17qter prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q92.3 Orphanet ID- 3493 Trisomy 17qter Distal duplication 17q Telomeric duplication 17q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379 EXACT Telomeric duplication 17q EXACT Distal duplication 17q EXACT Trisomy 17qter Tyrosinemia type 1 FAH deficiency Fumarylacetoacetase deficiency Fumarylacetoacetate hydrolase deficiency Hepatorenal tyrosinemia Hepatorenal tyrosinemia FAH deficiency Gene [OrphaNum:121686 ; Name:Fumarylacetoacetate hydrolase (fumarylacetoacetase) ; Symbol:FAH ; xref: GENATLAS:FAH ; xref: HGNC:3579 ; xref: UNIPROTKB/SWISSPROT:P16930 ; xref: OMIM:613871 ; xref: ENSEMBL:ENSG00000103876 ; xref: REACTOME:P16930] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 Fumarylacetoacetase deficiency ICD10:E70.2 OMIM:276700 Fumarylacetoacetate hydrolase deficiency Orphanet ID- 3494 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT FAH deficiency EXACT Fumarylacetoacetate hydrolase deficiency EXACT Hepatorenal tyrosinemia EXACT Fumarylacetoacetase deficiency Double uterus - hemivagina - renal agenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 3495 OMIM:192050 Von Willebrand disease Hereditary Willebrand disease Willebrand disease Orphanet ID- 3497 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:193400 Willebrand disease ICD10:D68.0 Hereditary Willebrand disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903 OMIM:314560 EXACT Hereditary Willebrand disease EXACT Willebrand disease Zunich-Kaye syndrome Neuroectodermal dysplasia, CHIME type Neuroectodermal syndrome, Zunich type Gene [OrphaNum:299636 ; Name:Phosphatidylinositol glycan anchor biosynthesis, class L ; Symbol:PIGL ; xref: HGNC:8966 ; xref: OMIM:605947 ; xref: GENATLAS:PIGL ; xref: UNIPROTKB/SWISSPROT:Q9Y2B2] OMIM:280000 Neuroectodermal syndrome, Zunich type prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 Orphanet ID- 3498 Neuroectodermal dysplasia, CHIME type EXACT Neuroectodermal syndrome, Zunich type EXACT Neuroectodermal dysplasia, CHIME type Sino-auricular heart block Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1260 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3502 Ring chromosome 17 ICD10:Q93.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441 Orphanet ID- 3505 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Familial glucocorticoid deficiency ACTH resistance ICD10:E27.1 Orphanet ID- 3506 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:609197 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 OMIM:607398 Gene [OrphaNum:304075 ; Name:Nicotinamide nucleotide transhydrogenase ; Symbol:NNT ; xref: HGNC:7863 ; xref: OMIM:607878 ; xref: GENATLAS:NNT ; xref: UNIPROTKB/SWISSPROT:Q13423] ACTH resistance Gene [OrphaNum:123161 ; Name:Melanocortin 2 receptor (adrenocorticotropic hormone) ; Symbol:MC2R ; xref: GENATLAS:MC2R ; xref: HGNC:6930 ; xref: OMIM:607397 ; xref: UNIPROTKB/SWISSPROT:Q01718 ; xref: IUPHAR:283 ; xref: ENSEMBL:ENSG00000185231 ; xref: REACTOME:Q01718] OMIM:202355 Gene [OrphaNum:123478 ; Name:Melanocortin 2 receptor accessory protein ; Symbol:MRAP ; xref: GENATLAS:MRAP ; xref: HGNC:1304 ; xref: OMIM:609196 ; xref: UNIPROTKB/SWISSPROT:Q8TCY5 ; xref: ENSEMBL:ENSG00000170262] OMIM:202200 OMIM:614736 EXACT ACTH resistance Acrofacial dysostosis, Palagonia type Orphanet ID- 3508 ICD10:Q75.4 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- X-linked dominant; OMIM:601829 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787 Bickel-Fanconi glycogenosis Fanconi-Bickel disease GLUT2 deficiency GSD type XI Glycogen storage disease type 11 Glycogen storage disease type 11 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; GSD type XI Gene [OrphaNum:118828 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 2 ; Symbol:SLC2A2 ; xref: HGNC:11006 ; xref: OMIM:138160 ; xref: UNIPROTKB/SWISSPROT:P11168 ; xref: GENATLAS:SLC2A2 ; xref: ENSEMBL:ENSG00000163581 ; xref: REACTOME:P11168] GLUT2 deficiency Orphanet ID- 3513 OMIM:227810 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 ICD10:E74.0 Fanconi-Bickel disease EXACT GSD type XI EXACT Fanconi-Bickel disease EXACT GLUT2 deficiency EXACT Glycogen storage disease type 11 Central nervous system calcification - deafness - tubular acidosis - anemia Yoshimura-Takeshita syndrome Yoshimura-Takeshita syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 3521 EXACT Yoshimura-Takeshita syndrome His bundle tachycardia ICD10:I47.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 3523 Catecholaminergic polymorphic ventricular tachycardia Bidirectional tachycardia Bidirectional tachycardia induced by catecholamine CPVT Double tachycardia induced by catecholamines Malignant paroxysmal ventricular tachycardia Multifocal ventricular premature beats Paroxysmal ventricular fibrillation Syncopal paroxysmal tachycardia Syncopal tachyarythmia OMIM:604772 Gene [OrphaNum:119182 ; Name:Calsequestrin 2 (cardiac muscle) ; Symbol:CASQ2 ; xref: GENATLAS:CASQ2 ; xref: HGNC:1513 ; xref: OMIM:114251 ; xref: UNIPROTKB/SWISSPROT:O14958 ; xref: ENSEMBL:ENSG00000118729] Gene [OrphaNum:118443 ; Name:Ryanodine receptor 2 (cardiac) ; Symbol:RYR2 ; xref: GENATLAS:RYR2 ; xref: HGNC:10484 ; xref: OMIM:180902 ; xref: UNIPROTKB/SWISSPROT:Q92736 ; xref: ENSEMBL:ENSG00000198626] OMIM:611938 Double tachycardia induced by catecholamines OMIM:192605 Syncopal paroxysmal tachycardia Orphanet ID- 3525 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 Bidirectional tachycardia induced by catecholamine Paroxysmal ventricular fibrillation CPVT ICD10:I47.2 Bidirectional tachycardia Gene [OrphaNum:304242 ; Name:Triadin ; Symbol:TRDN ; xref: HGNC:12261 ; xref: OMIM:603283 ; xref: GENATLAS:TRDN ; xref: UNIPROTKB/SWISSPROT:Q13061] Malignant paroxysmal ventricular tachycardia OMIM:614021 Syncopal tachyarythmia Multifocal ventricular premature beats prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Double tachycardia induced by catecholamines EXACT Multifocal ventricular premature beats EXACT CPVT EXACT Bidirectional tachycardia induced by catecholamine EXACT Syncopal tachyarythmia EXACT Syncopal paroxysmal tachycardia EXACT Paroxysmal ventricular fibrillation EXACT Bidirectional tachycardia EXACT Malignant paroxysmal ventricular tachycardia Distal myopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599 Orphanet ID- 3528 Hyperoxaluria ICD10:E74.8 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 OMIM:260000 Orphanet ID- 3529 OMIM:259900 OMIM:613616 Progressive epilepsy - intellectual deficit, Finnish type CLN8 disease, Northern epilepsy variant NCL, Northern epilepsy variant Neuronal ceroid lipofuscinosis, Northern epilepsy variant Northern epilepsy prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Neuronal ceroid lipofuscinosis, Northern epilepsy variant Gene [OrphaNum:120648 ; Name:Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) ; Symbol:CLN8 ; xref: ENSEMBL:ENSG00000182372 ; xref: GENATLAS:CLN8 ; xref: HGNC:2079 ; xref: OMIM:607837 ; xref: UNIPROTKB/SWISSPROT:Q9UBY8] Northern epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 Orphanet ID- 353 CLN8 disease, Northern epilepsy variant ICD10:E75.4 NCL, Northern epilepsy variant OMIM:610003 EXACT CLN8 disease, Northern epilepsy variant EXACT NCL, Northern epilepsy variant EXACT Northern epilepsy EXACT Neuronal ceroid lipofuscinosis, Northern epilepsy variant Tufted angioma Nakagawa's angioblastoma OMIM:607859 Orphanet ID- 3543 Nakagawa's angioblastoma prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 EXACT Nakagawa's angioblastoma Infantile myofibromatosis ICD10:D21 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 3545 OMIM:228550 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 Autosomal recessive medullary cystic kidney disease Autosomal recessive nephronophthisis OMIM:256100 OMIM:604387 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655 Gene [OrphaNum:209484 ; Name:NIMA (never in mitosis gene a)- related kinase 8 ; Symbol:NEK8 ; xref: ENSEMBL:ENSG00000160602 ; xref: GENATLAS:NEK9 ; xref: HGNC:13387 ; xref: OMIM:609799 ; xref: UNIPROTKB/SWISSPROT:Q86SG6] Gene [OrphaNum:227083 ; Name:X-prolyl aminopeptidase (aminopeptidase P) 3, putative ; Symbol:XPNPEP3 ; xref: OMIM:613553 ; xref: HGNC:28052 ; xref: UNIPROTKB/SWISSPROT:Q9NQH7 ; xref: ENSEMBL:ENSG00000196236] OMIM:613159 OMIM:614377 ICD10:N11.8 Gene [OrphaNum:123874 ; Name:Nephronophthisis 1 (juvenile) ; Symbol:NPHP1 ; xref: GENATLAS:NPHP1 ; xref: HGNC:7905 ; xref: OMIM:607100 ; xref: UNIPROTKB/SWISSPROT:O15259 ; xref: ENSEMBL:ENSG00000144061] OMIM:606966 OMIM:611498 Autosomal recessive nephronophthisis Orphanet ID- 3549 Gene [OrphaNum:123878 ; Name:Nephronophthisis 3 (adolescent) ; Symbol:NPHP3 ; xref: GENATLAS:NPHP3 ; xref: HGNC:7907 ; xref: OMIM:608002 ; xref: UNIPROTKB/SWISSPROT:Q7Z494 ; xref: ENSEMBL:ENSG00000113971] OMIM:602088 OMIM:613820 Gene [OrphaNum:122667 ; Name:Inversin ; Symbol:INVS ; xref: GENATLAS:INVS ; xref: HGNC:17870 ; xref: OMIM:243305 ; xref: UNIPROTKB/SWISSPROT:Q9Y283 ; xref: ENSEMBL:ENSG00000119509] OMIM:613824 Gene [OrphaNum:285468 ; Name:WD Repeat domain 19 ; Symbol:WDR19 ; xref: ENSEMBL:ENSG00000157796 ; xref: OMIM:608151 ; xref: UNIPROTKB/SWISSPROT:Q8NEZ3 ; xref: GENATLAS:WDR19 ; xref: HGNC:18340] Gene [OrphaNum:123884 ; Name:Nephronophthisis 4 ; Symbol:NPHP4 ; xref: GENATLAS:NPHP4 ; xref: HGNC:19104 ; xref: OMIM:607215 ; xref: UNIPROTKB/SWISSPROT:O75161 ; xref: ENSEMBL:ENSG00000131697 ; xref: REACTOME:O75161] EXACT Autosomal recessive nephronophthisis Galactosemia ICD10:E74.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 355 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 Familial idiopathic steroid-resistant nephrotic syndrome Familial idiopathic nephrotic syndrome OMIM:610725 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 OMIM:600995 OMIM:613237 OMIM:603965 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 3551 OMIM:249660 OMIM:256370 ICD10:N04.9 Familial idiopathic nephrotic syndrome OMIM:603278 OMIM:607832 EXACT Familial idiopathic nephrotic syndrome Denys-Drash syndrome Drash syndrome Wilms tumor and pseudohermaphroditism Wilms tumor and pseudohermaphroditism Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] Orphanet ID- 3552 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; ICD10:Q87.8 Drash syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 OMIM:194080 EXACT Drash syndrome EXACT Wilms tumor and pseudohermaphroditism CDG syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137 Orphanet ID- 3553 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency LCHAD deficiency OMIM:609016 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 ICD10:E71.3 Gene [OrphaNum:138233 ; Name:hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase, alpha subunit ; Symbol:HADHA ; xref: GENATLAS:HADHA ; xref: HGNC:4801 ; xref: OMIM:600890 ; xref: UNIPROTKB/SWISSPROT:P40939 ; xref: ENSEMBL:ENSG00000084754 ; xref: REACTOME:P40939] ICD10:G60 LCHAD deficiency prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 3555 EXACT LCHAD deficiency Isolated nonketotic hyperglycinemia Glycine encephalopathy Glycine synthase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E72.5 Glycine synthase deficiency Gene [OrphaNum:121352 ; Name:Aminomethyltransferase ; Symbol:AMT ; xref: GENATLAS:AMT ; xref: HGNC:473 ; xref: OMIM:238310 ; xref: UNIPROTKB/SWISSPROT:P48728 ; xref: ENSEMBL:ENSG00000145020] Gene [OrphaNum:122062 ; Name:Glycine cleavage system protein H (aminomethyl carrier) ; Symbol:GCSH ; xref: GENATLAS:GCSH ; xref: HGNC:4208 ; xref: OMIM:238330 ; xref: UNIPROTKB/SWISSPROT:P23434 ; xref: ENSEMBL:ENSG00000140905] Gene [OrphaNum:122160 ; Name:Glycine dehydrogenase (decarboxylating) ; Symbol:GLDC ; xref: GENATLAS:GLDC ; xref: HGNC:4313 ; xref: OMIM:238300 ; xref: UNIPROTKB/SWISSPROT:P23378 ; xref: ENSEMBL:ENSG00000178445] Orphanet ID- 3556 Glycine encephalopathy OMIM:605899 EXACT Glycine synthase deficiency EXACT Glycine encephalopathy Propionic acidemia Ketotic glycinemia Propionyl-CoA carboxylase deficiency Gene [OrphaNum:124115 ; Name:Propionyl Coenzyme A carboxylase, alpha polypeptide ; Symbol:PCCA ; xref: GENATLAS:PCCA ; xref: HGNC:8653 ; xref: OMIM:232000 ; xref: UNIPROTKB/SWISSPROT:P05165 ; xref: ENSEMBL:ENSG00000175198 ; xref: REACTOME:P05165] ICD10:E71.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 Orphanet ID- 3557 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Propionyl-CoA carboxylase deficiency OMIM:606054 Ketotic glycinemia Gene [OrphaNum:124117 ; Name:Propionyl Coenzyme A carboxylase, beta polypeptide ; Symbol:PCCB ; xref: GENATLAS:PCCB ; xref: HGNC:8654 ; xref: OMIM:232050 ; xref: UNIPROTKB/SWISSPROT:P05166 ; xref: ENSEMBL:ENSG00000114054 ; xref: REACTOME:P05166] EXACT Ketotic glycinemia EXACT Propionyl-CoA carboxylase deficiency Maternally-inherited progressive external ophthalmoplegia Maternally-inherited CPEO Maternally-inherited chronic progressive external ophthalmoplegia ICD10:H49.4 Maternally-inherited chronic progressive external ophthalmoplegia Maternally-inherited CPEO Orphanet ID- 3558 Gene [OrphaNum:138895 ; Name:Mitochondrially encoded tRNA leucine 1 (UUA/G) ; Symbol:MT-TL1 ; xref: GENATLAS:MT-TL1 ; xref: HGNC:7490 ; xref: OMIM:590050] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic; EXACT Maternally-inherited CPEO EXACT Maternally-inherited chronic progressive external ophthalmoplegia Leukocyte adhesion deficiency LAD OMIM:116920 LAD Orphanet ID- 3559 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968 OMIM:266265 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:612840 EXACT LAD Familial melanoma Gene [OrphaNum:139778 ; Name:Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) ; Symbol:MC1R ; xref: UNIPROTKB/SWISSPROT:Q01726 ; xref: GENATLAS:MC1R ; xref: HGNC:6929 ; xref: OMIM:155555 ; xref: REACTOME:Q01726 ; xref: IUPHAR:282 ; xref: ENSEMBL:ENSG00000258839] Orphanet ID- 3560 Gene [OrphaNum:119306 ; Name:Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) ; Symbol:CDKN2A ; xref: GENATLAS:CDKN2A ; xref: HGNC:1787 ; xref: OMIM:600160 ; xref: UNIPROTKB/SWISSPROT:Q8N726 ; xref: ENSEMBL:ENSG00000147889] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 ICD10:C43 OMIM:613972 OMIM:613099 Gene [OrphaNum:119289 ; Name:Cyclin-dependent kinase 4 ; Symbol:CDK4 ; xref: GENATLAS:CDK4 ; xref: HGNC:1773 ; xref: OMIM:123829 ; xref: UNIPROTKB/SWISSPROT:P11802 ; xref: ENSEMBL:ENSG00000135446 ; xref: REACTOME:P11802] OMIM:608035 OMIM:609048 OMIM:155601 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial; OMIM:155600 Familial partial epilepsy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 ICD10:G40.1 Orphanet ID- 3562 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hereditary glaucoma OMIM:137760 OMIM:603383 OMIM:601682 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:120509 ; Name:WD repeat domain 36 ; Symbol:WDR36 ; xref: ENSEMBL:ENSG00000134987 ; xref: GENATLAS:WDR36 ; xref: HGNC:30696 ; xref: OMIM:609669 ; xref: UNIPROTKB/SWISSPROT:Q8NI36] ICD10:Q15.0 OMIM:608695 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=359 OMIM:608696 OMIM:600975 OMIM:609887 OMIM:606657 OMIM:606689 OMIM:137750 OMIM:137700 ICD10:H40.1 Orphanet ID- 3563 OMIM:602429 OMIM:609745 Glutaric acidemia type 1 Glutaric aciduria type 1 Glutaryl-CoA dehydrogenase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Glutaryl-CoA dehydrogenase deficiency ICD10:E72.3 Orphanet ID- 3564 Gene [OrphaNum:122045 ; Name:Glutaryl-Coenzyme A dehydrogenase ; Symbol:GCDH ; xref: GENATLAS:GCDH ; xref: HGNC:4189 ; xref: OMIM:608801 ; xref: UNIPROTKB/SWISSPROT:Q92947 ; xref: ENSEMBL:ENSG00000105607 ; xref: REACTOME:Q92947] Glutaric aciduria type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 OMIM:231670 EXACT Glutaric aciduria type 1 EXACT Glutaryl-CoA dehydrogenase deficiency Congenital dyserythropoietic anemia CDA Orphanet ID- 3565 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85 CDA ICD10:D64.4 EXACT CDA Rhizomelic chondrodysplasia punctata Gene [OrphaNum:124219 ; Name:Peroxisomal biogenesis factor 7 ; Symbol:PEX7 ; xref: GENATLAS:PEX7 ; xref: HGNC:8860 ; xref: OMIM:601757 ; xref: UNIPROTKB/SWISSPROT:O00628 ; xref: ENSEMBL:ENSG00000112357] OMIM:215100 Gene [OrphaNum:122211 ; Name:Glyceronephosphate O-acyltransferase ; Symbol:GNPAT ; xref: ENSEMBL:ENSG00000116906 ; xref: GENATLAS:GNPAT ; xref: HGNC:4416 ; xref: OMIM:602744 ; xref: UNIPROTKB/SWISSPROT:O15228 ; xref: REACTOME:O15228] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119528 ; Name:Alkylglycerone phosphate synthase ; Symbol:AGPS ; xref: GENATLAS:AGPS ; xref: HGNC:327 ; xref: OMIM:603051 ; xref: UNIPROTKB/SWISSPROT:O00116 ; xref: REACTOME:O00116 ; xref: ENSEMBL:ENSG00000018510] ICD10:Q77.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 Orphanet ID- 3567 OMIM:600121 OMIM:222765 Cartilage-hair hypoplasia Autosomal recessive metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, McKusick type Orphanet ID- 3568 OMIM:250460 Metaphyseal chondrodysplasia, McKusick type prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Autosomal recessive metaphyseal chondrodysplasia ICD10:Q78.8 Gene [OrphaNum:138742 ; Name:RNA component of mitochondrial RNA processing endoribonuclease ; Symbol:RMRP ; xref: GENATLAS:RMRP ; xref: HGNC:10031 ; xref: OMIM:157660 ; xref: ENSEMBL:ENSG00000199916] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 OMIM:250250 EXACT Autosomal recessive metaphyseal chondrodysplasia EXACT Metaphyseal chondrodysplasia, McKusick type Cutis laxa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 Orphanet ID- 3569 prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive; ICD10:Q82.8 Glycogen storage disease due to phosphorylase kinase deficiency GSD due to phosphorylase kinase deficiency GSD type 9 GSD type IX Glycogen storage disease due to PhK deficiency Glycogen storage disease type 9 Glycogen storage disease type IX Glycogenosis due to phosphorylase kinase deficiency Glycogenosis type 9 Glycogenosis type IX Gycogenosis due to PhK deficiency GSD type IX Glycogen storage disease type 9 Glycogenosis type 9 Glycogenosis due to phosphorylase kinase deficiency Glycogen storage disease due to PhK deficiency Glycogen storage disease type IX OMIM:613027 OMIM:261750 GSD due to phosphorylase kinase deficiency GSD type 9 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; OMIM:300559 Glycogenosis type IX Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 ICD10:E74.0 Gycogenosis due to PhK deficiency OMIM:306000 Orphanet ID- 357 EXACT GSD type IX EXACT Glycogenosis due to phosphorylase kinase deficiency EXACT GSD type 9 EXACT Glycogen storage disease due to PhK deficiency EXACT Glycogen storage disease type 9 EXACT Glycogenosis type 9 EXACT Glycogen storage disease type IX EXACT Gycogenosis due to PhK deficiency EXACT Glycogenosis type IX EXACT GSD due to phosphorylase kinase deficiency Medium chain acyl-CoA dehydrogenase deficiency MCAD deficiency prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; MCAD deficiency Gene [OrphaNum:117700 ; Name:Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain ; Symbol:ACADM ; xref: GENATLAS:ACADM ; xref: HGNC:89 ; xref: OMIM:607008 ; xref: UNIPROTKB/SWISSPROT:P11310 ; xref: REACTOME:P11310 ; xref: ENSEMBL:ENSG00000117054] OMIM:201450 ICD10:E71.3 Orphanet ID- 3570 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 EXACT MCAD deficiency Enolase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3571 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=299 Lactate dehydrogenase deficiency LDH deficiency LDH deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364 Orphanet ID- 3572 ICD10:E74.4 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT LDH deficiency Glycogen storage disease type 14 GSD type 14 GSDXIV Phosphoglucomutase 1 deficiency Phosphoglucomutase deficiency Type 14 glycogenosis Gene [OrphaNum:124229 ; Name:Phosphoglucomutase 1 ; Symbol:PGM1 ; xref: GENATLAS:PGM1 ; xref: HGNC:8905 ; xref: OMIM:171900 ; xref: UNIPROTKB/SWISSPROT:P36871 ; xref: REACTOME:P36871 ; xref: ENSEMBL:ENSG00000079739] Phosphoglucomutase 1 deficiency ICD10:E74.0 GSD type 14 GSDXIV OMIM:612934 Type 14 glycogenosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=711 Phosphoglucomutase deficiency Orphanet ID- 3573 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Phosphoglucomutase 1 deficiency EXACT GSDXIV EXACT GSD type 14 EXACT Phosphoglucomutase deficiency EXACT Type 14 glycogenosis Smith-Lemli-Opitz syndrome 7-dehydrocholesterol reductase deficiency RSH syndrome SLOS Gene [OrphaNum:121066 ; Name:7-dehydrocholesterol reductase ; Symbol:DHCR7 ; xref: GENATLAS:DHCR7 ; xref: HGNC:2860 ; xref: OMIM:602858 ; xref: UNIPROTKB/SWISSPROT:Q9UBM7 ; xref: REACTOME:Q9UBM7 ; xref: ENSEMBL:ENSG00000172893] OMIM:270400 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 3574 RSH syndrome SLOS ICD10:Q87.1 7-dehydrocholesterol reductase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 EXACT 7-dehydrocholesterol reductase deficiency EXACT RSH syndrome EXACT SLOS Gamma aminobutyric acid transaminase deficiency Gaba transaminase deficiency Gaba transaminase deficiency OMIM:613163 Gene [OrphaNum:117617 ; Name:4-aminobutyrate aminotransferase ; Symbol:ABAT ; xref: UNIPROTKB/SWISSPROT:P80404 ; xref: GENATLAS:ABAT ; xref: HGNC:23 ; xref: OMIM:137150 ; xref: ENSEMBL:ENSG00000183044 ; xref: REACTOME:P80404] Orphanet ID- 3577 ICD10:E72.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Gaba transaminase deficiency Bifunctional enzyme deficiency Gene [OrphaNum:122513 ; Name:Hydroxysteroid (17-beta) dehydrogenase 4 ; Symbol:HSD17B4 ; xref: GENATLAS:HSD17B4 ; xref: HGNC:5213 ; xref: OMIM:601860 ; xref: UNIPROTKB/SWISSPROT:P51659 ; xref: ENSEMBL:ENSG00000133835 ; xref: REACTOME:P51659] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 3578 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 ICD10:E71.3 OMIM:261515 Neurodegeneration with brain iron accumulation Orphanet ID- 358 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 Hereditary thrombophilia due to congenital antithrombin deficiency Hereditary thrombophilia due to congenital antithrombin 3 deficiency Hereditary thrombophilia due to congenital antithrombin 3 deficiency Gene [OrphaNum:118609 ; Name:Serpin peptidase inhibitor, clade C (antithrombin), member 1 ; Symbol:SERPINC1 ; xref: GENATLAS:SERPINC1 ; xref: HGNC:775 ; xref: OMIM:107300 ; xref: UNIPROTKB/SWISSPROT:P01008 ; xref: ENSEMBL:ENSG00000117601 ; xref: REACTOME:P01008] Orphanet ID- 3590 ICD10:D68.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:613118 EXACT Hereditary thrombophilia due to congenital antithrombin 3 deficiency Incontinentia pigmenti Bloch-Sulzberger syndrome Incontinentia pigmenti type 2 Gene [OrphaNum:122614 ; Name:Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma ; Symbol:IKBKG ; xref: ENSEMBL:ENSG00000073009 ; xref: REACTOME:Q9Y6K9 ; xref: UNIPROTKB/SWISSPROT:Q9Y6K9 ; xref: GENATLAS:IKBKG ; xref: HGNC:5961 ; xref: OMIM:300248] Incontinentia pigmenti type 2 Bloch-Sulzberger syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- X-linked dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 Orphanet ID- 360 ICD10:Q82.3 OMIM:308300 EXACT Bloch-Sulzberger syndrome EXACT Incontinentia pigmenti type 2 Familial hypocalciuric hypercalcemia Familial benign hypercalcemia Idiopathic infantile hypercalcemia Idiopathic infantile hypercalcemia prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 3600 Familial benign hypercalcemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 ICD10:E83.5 EXACT Familial benign hypercalcemia EXACT Idiopathic infantile hypercalcemia Tetrasomy 18p Isochromosome 18p OMIM:614290 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307 Isochromosome 18p ICD10:Q99.8 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 361 EXACT Isochromosome 18p Myopathy and diabetes mellitus OMIM:500002 Gene [OrphaNum:140514 ; Name:Mitochondrially encoded tRNA glutamic acid ; Symbol:MT-TE ; xref: GENATLAS:MT-TE ; xref: HGNC:7479 ; xref: OMIM:590025] ICD10:E10 Orphanet ID- 3612 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G71.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 Properdin deficiency Orphanet ID- 3615 Gene [OrphaNum:119379 ; Name:Complement factor properdin ; Symbol:CFP ; xref: GENATLAS:CFP ; xref: HGNC:8864 ; xref: OMIM:300383 ; xref: UNIPROTKB/SWISSPROT:P27918 ; xref: ENSEMBL:ENSG00000126759 ; xref: REACTOME:P27918] OMIM:312060 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2966 Frasier syndrome Orphanet ID- 3616 OMIM:136680 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q56.1 ICD10:N07 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] Familial benign chronic pemphigus Benign chronic familial pemphigus of Hailey-Hailey Hailey-Hailey disease Hailey-Hailey disease Benign chronic familial pemphigus of Hailey-Hailey Orphanet ID- 3619 OMIM:169600 Gene [OrphaNum:118849 ; Name:ATPase, Ca++ transporting, type 2C, member 1 ; Symbol:ATP2C1 ; xref: GENATLAS:ATP2C1 ; xref: HGNC:13211 ; xref: OMIM:604384 ; xref: UNIPROTKB/SWISSPROT:P98194 ; xref: REACTOME:P98194 ; xref: ENSEMBL:ENSG00000017260] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841 ICD10:Q82.8 EXACT Benign chronic familial pemphigus of Hailey-Hailey EXACT Hailey-Hailey disease Distal renal tubular acidosis Familial distal primary acidosis Renal tubular acidosis type 1 OMIM:602722 Gene [OrphaNum:119669 ; Name:Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ; Symbol:SLC4A1 ; xref: GENATLAS:SLC4A1 ; xref: HGNC:11027 ; xref: OMIM:109270 ; xref: UNIPROTKB/SWISSPROT:P02730 ; xref: ENSEMBL:ENSG00000004939 ; xref: REACTOME:P02730] OMIM:611590 OMIM:179800 Gene [OrphaNum:118861 ; Name:ATPase, H+ transporting, lysosomal V0 subunit a4 ; Symbol:ATP6V0A4 ; xref: GENATLAS:ATP6V0A4 ; xref: HGNC:866 ; xref: OMIM:605239 ; xref: UNIPROTKB/SWISSPROT:Q9HBG4 ; xref: ENSEMBL:ENSG00000105929 ; xref: REACTOME:Q9HBG4] Renal tubular acidosis type 1 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 3621 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 Gene [OrphaNum:118872 ; Name:ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness) ; Symbol:ATP6V1B1 ; xref: GENATLAS:ATP6V1B1 ; xref: HGNC:853 ; xref: OMIM:192132 ; xref: UNIPROTKB/SWISSPROT:P15313 ; xref: ENSEMBL:ENSG00000116039 ; xref: REACTOME:P15313] OMIM:267300 OMIM:267200 Familial distal primary acidosis ICD10:N25.8 EXACT Renal tubular acidosis type 1 EXACT Familial distal primary acidosis Idiopathic hypercalciuria prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197 OMIM:143870 Orphanet ID- 3625 Gene [OrphaNum:168172 ; Name:Adenylate cyclase 10 (soluble) ; Symbol:ADCY10 ; xref: GENATLAS:ADCY10 ; xref: HGNC:21285 ; xref: OMIM:605205 ; xref: UNIPROTKB/SWISSPROT:Q96PN6 ; xref: ENSEMBL:ENSG00000143199] OMIM:607258 Medullary sponge kidney Cacchi-Ricci disease MSK Precalicial canalicular ectasia Cacchi-Ricci disease Precalicial canalicular ectasia Orphanet ID- 3626 MSK Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 ICD10:Q61.5 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Precalicial canalicular ectasia EXACT Cacchi-Ricci disease EXACT MSK Focal dystonia ICD10:G24.8 prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:G24.5 ICD10:G24.4 ICD10:G24.3 Orphanet ID- 3632 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866 X-linked centronuclear myopathy Myotubular myopathy XLCNM XLMTM XLMTM Gene [OrphaNum:159494 ; Name:Mastermind-like domain containing 1 ; Symbol:MAMLD1 ; xref: ENSEMBL:ENSG00000013619 ; xref: GENATLAS:MAMLD1 ; xref: HGNC:2568 ; xref: OMIM:300120 ; xref: UNIPROTKB/SWISSPROT:Q13495 ; xref: REACTOME:Q13495] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 XLCNM OMIM:310400 Myotubular myopathy ICD10:G71.2 Gene [OrphaNum:123531 ; Name:Myotubularin 1 ; Symbol:MTM1 ; xref: GENATLAS:MTM1 ; xref: HGNC:7448 ; xref: OMIM:300415 ; xref: UNIPROTKB/SWISSPROT:Q13496 ; xref: ENSEMBL:ENSG00000171100] Orphanet ID- 364 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- X-linked recessive; OMIM:300219 EXACT XLCNM EXACT XLMTM EXACT Myotubular myopathy Infantile bilateral striatal necrosis IBSN Infantile striatonigral degeneration Infantile striatonigral necrosis Orphanet ID- 3640 OMIM:500003 Infantile striatonigral necrosis prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic; OMIM:271930 Infantile striatonigral degeneration Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 IBSN ICD10:G23.2 EXACT Infantile striatonigral necrosis EXACT IBSN EXACT Infantile striatonigral degeneration Early onset torsion dystonia DYT1 Dystonia musculorum deformans EOTD Early-onset generalized torsion dystonia Early-onset primary dystonia Idiopathic dystonia Idiopathic torsion dystonia Oppenheim's dystonia ICD10:G24.1 OMIM:128100 Gene [OrphaNum:120201 ; Name:Torsin family 1, member A (torsin A) ; Symbol:TOR1A ; xref: GENATLAS:TOR1A ; xref: HGNC:3098 ; xref: OMIM:605204 ; xref: UNIPROTKB/SWISSPROT:O14656 ; xref: ENSEMBL:ENSG00000136827] Early-onset generalized torsion dystonia Oppenheim's dystonia DYT1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Idiopathic torsion dystonia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256 EOTD Dystonia musculorum deformans OMIM:602554 Early-onset primary dystonia Idiopathic dystonia Orphanet ID- 3643 EXACT Dystonia musculorum deformans EXACT Oppenheim's dystonia EXACT Early-onset primary dystonia EXACT Idiopathic dystonia EXACT EOTD EXACT Idiopathic torsion dystonia EXACT Early-onset generalized torsion dystonia EXACT DYT1 X-linked diffuse leiomyomatosis - Alport syndrome Xq22.3 microdeletion syndrome Gene [OrphaNum:120726 ; Name:Collagen, type IV, alpha 6 ; Symbol:COL4A6 ; xref: GENATLAS:COL4A6 ; xref: HGNC:2208 ; xref: OMIM:303631 ; xref: UNIPROTKB/SWISSPROT:Q14031 ; xref: ENSEMBL:ENSG00000197565] Xq22.3 microdeletion syndrome OMIM:308940 Orphanet ID- 3650 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 Gene [OrphaNum:120722 ; Name:Collagen, type IV, alpha 5 (Alport syndrome) ; Symbol:COL4A5 ; xref: GENATLAS:COL4A5 ; xref: HGNC:2207 ; xref: OMIM:303630 ; xref: UNIPROTKB/SWISSPROT:P29400 ; xref: ENSEMBL:ENSG00000188153 ; xref: REACTOME:P29400] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked dominant; EXACT Xq22.3 microdeletion syndrome Benign familial infantile seizures Benign familial infantile convulsions Benign familial infantile epilepsy Gene [OrphaNum:291703 ; Name:Proline-rich transmembrane protein 2 ; Symbol:PRRT2 ; xref: HGNC:30500 ; xref: GENATLAS:PRRT2 ; xref: ENSEMBL:ENSG00000167371 ; xref: UNIPROTKB/SWISSPROT:Q7Z6L0 ; xref: OMIM:614386] OMIM:601764 Benign familial infantile epilepsy Orphanet ID- 3651 OMIM:607745 OMIM:612627 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 OMIM:605751 Benign familial infantile convulsions Gene [OrphaNum:122808 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 2 ; Symbol:KCNQ2 ; xref: GENATLAS:KCNQ2 ; xref: HGNC:6296 ; xref: OMIM:602235 ; xref: UNIPROTKB/SWISSPROT:O43526 ; xref: IUPHAR:561 ; xref: ENSEMBL:ENSG00000075043 ; xref: REACTOME:O43526] ICD10:G40.3 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Benign familial infantile epilepsy EXACT Benign familial infantile convulsions Congenital factor X deficiency Congenital Stuart factor deficiency Stuart-Prower factor deficiency Stuart-Prower factor deficiency Orphanet ID- 3652 OMIM:227600 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Gene [OrphaNum:121658 ; Name:Coagulation factor X ; Symbol:F10 ; xref: GENATLAS:F10 ; xref: HGNC:3528 ; xref: OMIM:613872 ; xref: UNIPROTKB/SWISSPROT:P00742 ; xref: REACTOME:P00742 ; xref: ENSEMBL:ENSG00000126218] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 ICD10:D68.2 Congenital Stuart factor deficiency EXACT Stuart-Prower factor deficiency EXACT Congenital Stuart factor deficiency Hemoglobin C disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] ICD10:D58.2 Orphanet ID- 3653 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Hemoglobin E disease true ICD10:D58.2 Orphanet ID- 3654 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 Gene [OrphaNum:122376 ; Name:Hemoglobin, beta ; Symbol:HBB ; xref: GENATLAS:HBB ; xref: HGNC:4827 ; xref: OMIM:141900 ; xref: UNIPROTKB/SWISSPROT:P68871 ; xref: ENSEMBL:ENSG00000244734 ; xref: REACTOME:P68871] Hereditary elliptocytosis prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:225450 OMIM:109270 Gene [OrphaNum:119669 ; Name:Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) ; Symbol:SLC4A1 ; xref: GENATLAS:SLC4A1 ; xref: HGNC:11027 ; xref: OMIM:109270 ; xref: UNIPROTKB/SWISSPROT:P02730 ; xref: ENSEMBL:ENSG00000004939 ; xref: REACTOME:P02730] Gene [OrphaNum:119846 ; Name:Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) ; Symbol:SPTA1 ; xref: GENATLAS:SPTA1 ; xref: HGNC:11272 ; xref: OMIM:182860 ; xref: UNIPROTKB/SWISSPROT:P02549 ; xref: ENSEMBL:ENSG00000163554 ; xref: REACTOME:P02549] OMIM:166910 OMIM:130600 OMIM:266140 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288 Orphanet ID- 3655 OMIM:179650 OMIM:235370 ICD10:D58.1 OMIM:611804 OMIM:141700 Gene [OrphaNum:121563 ; Name:Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) ; Symbol:EPB41 ; xref: GENATLAS:EPB41 ; xref: HGNC:3377 ; xref: OMIM:130500 ; xref: UNIPROTKB/SWISSPROT:P11171 ; xref: ENSEMBL:ENSG00000159023] OMIM:166900 Overhydrated hereditary stomatocytosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203 ICD10:D58.8 OMIM:185000 Gene [OrphaNum:118307 ; Name:Rh-associated glycoprotein ; Symbol:RHAG ; xref: GENATLAS:RHAG ; xref: HGNC:10006 ; xref: OMIM:180297 ; xref: UNIPROTKB/SWISSPROT:Q02094 ; xref: ENSEMBL:ENSG00000112077 ; xref: REACTOME:Q02094] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 3656 Dehydrated hereditary stomatocytosis Hereditary xerocytosis Hereditary xerocytosis Gene [OrphaNum:303176 ; Name:Piezo-type mechanosensitive ion channel component 1 ; Symbol:PIEZO1 ; xref: UNIPROTKB/SWISSPROT:Q92508 ; xref: HGNC:28993 ; xref: OMIM:611184 ; xref: GENATLAS:FAM38A] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202 OMIM:603528 ICD10:D58.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Orphanet ID- 3657 OMIM:194380 EXACT Hereditary xerocytosis Adolescent benign focal crisis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:G40.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1544 Orphanet ID- 3662 Leukodystrophy, Reunion type Orphanet ID- 3663 ICD10:E75.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2385 CACH syndrome Childhood ataxia with diffuse central nervous system hypomyelination Leukoencephalopathy with vanishing white matter Myelinosis centralis diffusa Myelinosis centralis diffusa Leukoencephalopathy with vanishing white matter Childhood ataxia with diffuse central nervous system hypomyelination prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.2 Orphanet ID- 3664 OMIM:603896 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 EXACT Leukoencephalopathy with vanishing white matter EXACT Childhood ataxia with diffuse central nervous system hypomyelination EXACT Myelinosis centralis diffusa Bethlem myopathy Benign autosomal dominant myopathy Orphanet ID- 367 Gene [OrphaNum:120736 ; Name:Collagen, type VI, alpha 3 ; Symbol:COL6A3 ; xref: GENATLAS:COL6A3 ; xref: HGNC:2213 ; xref: OMIM:120250 ; xref: UNIPROTKB/SWISSPROT:P12111 ; xref: REACTOME:P12111 ; xref: ENSEMBL:ENSG00000163359] OMIM:158810 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 ICD10:G71.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:120734 ; Name:Collagen, type VI, alpha 2 ; Symbol:COL6A2 ; xref: GENATLAS:COL6A2 ; xref: HGNC:2212 ; xref: OMIM:120240 ; xref: UNIPROTKB/SWISSPROT:P12110 ; xref: REACTOME:P12110 ; xref: ENSEMBL:ENSG00000142173] Gene [OrphaNum:120732 ; Name:Collagen, type VI, alpha 1 ; Symbol:COL6A1 ; xref: GENATLAS:COL6A1 ; xref: HGNC:2211 ; xref: OMIM:120220 ; xref: UNIPROTKB/SWISSPROT:P12109 ; xref: REACTOME:P12109 ; xref: ENSEMBL:ENSG00000142156] Benign autosomal dominant myopathy EXACT Benign autosomal dominant myopathy Isolated NADH-CoQ reductase deficiency Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated mitochondrial respiratory chain complex I deficiency Gene [OrphaNum:291742 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa ; Symbol:NDUFA9 ; xref: UNIPROTKB/SWISSPROT:Q16795 ; xref: HGNC:7693 ; xref: OMIM:603834 ; xref: GENATLAS:NDUFA9 ; xref: ENSEMBL:ENSG00000139180] Gene [OrphaNum:299657 ; Name:Mitochondrial methionyl-tRNA formyltransferase ; Symbol:MTFMT ; xref: HGNC:29666 ; xref: OMIM:611766 ; xref: GENATLAS:MTFMT ; xref: UNIPROTKB/SWISSPROT:Q96DP5] Gene [OrphaNum:244371 ; Name:Nucleotide binding protein-like ; Symbol:NUBPL ; xref: HGNC:20278 ; xref: GENATLAS:NUBPL ; xref: OMIM:613621 ; xref: UNIPROTKB/SWISSPROT:Q8TB37 ; xref: ENSEMBL:ENSG00000151413] Isolated NADH-ubiquinone reductase deficiency Isolated mitochondrial respiratory chain complex I deficiency Gene [OrphaNum:289535 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 ; Symbol:NDUFAF1 ; xref: ENSEMBL:ENSG00000137806 ; xref: HGNC:18828 ; xref: OMIM:606934 ; xref: GENATLAS:NDUFAF1 ; xref: UNIPROTKB/SWISSPROT:Q9Y375] Gene [OrphaNum:123747 ; Name:NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa ; Symbol:NDUFV2 ; xref: GENATLAS:NDUFV2 ; xref: HGNC:7717 ; xref: OMIM:600532 ; xref: UNIPROTKB/SWISSPROT:P19404 ; xref: ENSEMBL:ENSG00000178127 ; xref: REACTOME:P19404] Gene [OrphaNum:123334 ; Name:Acyl-Coenzyme A dehydrogenase family, member 9 ; Symbol:ACAD9 ; xref: GENATLAS:ACAD9 ; xref: HGNC:21497 ; xref: OMIM:611103 ; xref: UNIPROTKB/SWISSPROT:Q9H845 ; xref: ENSEMBL:ENSG00000177646] Gene [OrphaNum:123723 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 ; Symbol:NDUFAF2 ; xref: GENATLAS:NDUFAF2 ; xref: HGNC:28086 ; xref: OMIM:609653 ; xref: UNIPROTKB/SWISSPROT:Q8N183 ; xref: ENSEMBL:ENSG00000164182] Gene [OrphaNum:123738 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS7 ; xref: GENATLAS:NDUFS7 ; xref: HGNC:7714 ; xref: OMIM:601825 ; xref: UNIPROTKB/SWISSPROT:O75251 ; xref: REACTOME:O75251 ; xref: ENSEMBL:ENSG00000115286] Gene [OrphaNum:123729 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS2 ; xref: GENATLAS:NDUFS2 ; xref: HGNC:7708 ; xref: OMIM:602985 ; xref: UNIPROTKB/SWISSPROT:O75306 ; xref: REACTOME:O75306 ; xref: ENSEMBL:ENSG00000158864] Gene [OrphaNum:123542 ; Name:Mitochondrially encoded NADH dehydrogenase 2 ; Symbol:MT-ND2 ; xref: ENSEMBL:ENSG00000198763 ; xref: GENATLAS:MT-ND2 ; xref: HGNC:7456 ; xref: OMIM:516001 ; xref: UNIPROTKB/SWISSPROT:P03891 ; xref: REACTOME:P03891] Orphanet ID- 369 Gene [OrphaNum:123745 ; Name:NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa ; Symbol:NDUFV1 ; xref: GENATLAS:NDUFV1 ; xref: HGNC:7716 ; xref: OMIM:161015 ; xref: UNIPROTKB/SWISSPROT:P49821 ; xref: ENSEMBL:ENSG00000167792 ; xref: REACTOME:P49821] Gene [OrphaNum:123731 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS3 ; xref: GENATLAS:NDUFS3 ; xref: HGNC:7710 ; xref: OMIM:603846 ; xref: UNIPROTKB/SWISSPROT:O75489 ; xref: ENSEMBL:ENSG00000213619 ; xref: REACTOME:O75489] Gene [OrphaNum:201531 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 ; Symbol:NDUFAF3 ; xref: HGNC:29918 ; xref: OMIM:612911 ; xref: UNIPROTKB/SWISSPROT:Q9BU61 ; xref: ENSEMBL:ENSG00000178057 ; xref: GENATLAS:NDUFAF3] Gene [OrphaNum:123727 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS1 ; xref: GENATLAS:NDUFS1 ; xref: HGNC:7707 ; xref: OMIM:157655 ; xref: UNIPROTKB/SWISSPROT:P28331 ; xref: REACTOME:P28331 ; xref: ENSEMBL:ENSG00000023228] Gene [OrphaNum:183907 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa ; Symbol:NDUFA11 ; xref: ENSEMBL:ENSG00000174886 ; xref: REACTOME:Q86Y39 ; xref: GENATLAS:NDUFA11 ; xref: HGNC:20371 ; xref: OMIM:612638 ; xref: UNIPROTKB/SWISSPROT:Q86Y39] Gene [OrphaNum:123743 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS8 ; xref: ENSEMBL:ENSG00000110717 ; xref: GENATLAS:NDUFS8 ; xref: HGNC:7715 ; xref: OMIM:602141 ; xref: UNIPROTKB/SWISSPROT:O00217 ; xref: REACTOME:O00217] ICD10:E88.8 Gene [OrphaNum:169395 ; Name:Chromosome 20 open reading frame 7 ; Symbol:C20ORF7 ; xref: ENSEMBL:ENSG00000101247 ; xref: GENATLAS:C20ORF7 ; xref: HGNC:15899 ; xref: OMIM:612360 ; xref: UNIPROTKB/SWISSPROT:Q5TEU4] Gene [OrphaNum:139187 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa ; Symbol:NDUFA1 ; xref: GENATLAS:NDUFA1 ; xref: HGNC:7683 ; xref: OMIM:300078 ; xref: UNIPROTKB/SWISSPROT:O15239 ; xref: REACTOME:O15239 ; xref: ENSEMBL:ENSG00000125356] Gene [OrphaNum:252455 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa ; Symbol:NDUFA2 ; xref: UNIPROTKB/SWISSPROT:O43678 ; xref: OMIM:602137 ; xref: REACTOME:O43678 ; xref: ENSEMBL:ENSG00000131495 ; xref: GENATLAS:NDUFA2 ; xref: HGNC:7685] OMIM:252010 Gene [OrphaNum:166690 ; Name:NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 ; Symbol:NDUFAF4 ; xref: HGNC:21034 ; xref: OMIM:611776 ; xref: UNIPROTKB/SWISSPROT:Q9P032 ; xref: GENATLAS:NDUFAF4 ; xref: ENSEMBL:ENSG00000123545] Gene [OrphaNum:244375 ; Name:FAD-dependent oxidoreductase domain containing 1 ; Symbol:FOXRED1 ; xref: GENATLAS:FOXRED1 ; xref: HGNC:26927 ; xref: OMIM:613622 ; xref: UNIPROTKB/SWISSPROT:Q96CU9 ; xref: ENSEMBL:ENSG00000110074] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 Gene [OrphaNum:123736 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS6 ; xref: GENATLAS:NDUFS6 ; xref: HGNC:7713 ; xref: OMIM:603848 ; xref: UNIPROTKB/SWISSPROT:O75380 ; xref: ENSEMBL:ENSG00000145494 ; xref: REACTOME:O75380] Isolated NADH-coenzyme Q reductase deficiency Gene [OrphaNum:292321 ; Name:NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa ; Symbol:NDUFB3 ; xref: HGNC:7698 ; xref: OMIM:603839 ; xref: GENATLAS:NDUFB3 ; xref: UNIPROTKB/SWISSPROT:O43676] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:123733 ; Name:NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) ; Symbol:NDUFS4 ; xref: GENATLAS:NDUFS4 ; xref: HGNC:7711 ; xref: OMIM:602694 ; xref: UNIPROTKB/SWISSPROT:O43181 ; xref: REACTOME:O43181 ; xref: ENSEMBL:ENSG00000164258] Gene [OrphaNum:292027 ; Name:NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa ; Symbol:NDUFB9 ; xref: HGNC:7704 ; xref: OMIM:601445 ; xref: GENATLAS:NDUFB9 ; xref: UNIPROTKB/SWISSPROT:Q9Y6M9 ; xref: ENSEMBL:ENSG00000147684] EXACT Isolated NADH-coenzyme Q reductase deficiency EXACT Isolated NADH-ubiquinone reductase deficiency EXACT Isolated mitochondrial respiratory chain complex I deficiency Large congenital melanocytic nevus Congenital pigmented nevus GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN Congenital pigmented nevus GMN OMIM:137550 Giant congenital melanocytic nevus Orphanet ID- 370 ICD10:D22 LCMN Giant pigmented hairy nevus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; EXACT Giant pigmented hairy nevus EXACT GMN EXACT Giant congenital melanocytic nevus EXACT Congenital pigmented nevus EXACT LCMN Osteopetrosis Orphanet ID- 3700 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 Butyrylcholinesterase deficiency Gene [OrphaNum:118998 ; Name:Butyrylcholinesterase ; Symbol:BCHE ; xref: GENATLAS:BCHE ; xref: HGNC:983 ; xref: OMIM:177400 ; xref: UNIPROTKB/SWISSPROT:P06276 ; xref: REACTOME:P06276 ; xref: ENSEMBL:ENSG00000114200] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; OMIM:177400 Orphanet ID- 3704 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 Familial pancreatic carcinoma Familial pancreatic cancer prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Gene [OrphaNum:119727 ; Name:SMAD family member 4 ; Symbol:SMAD4 ; xref: GENATLAS:SMAD4 ; xref: HGNC:6770 ; xref: OMIM:600993 ; xref: UNIPROTKB/SWISSPROT:Q13485 ; xref: ENSEMBL:ENSG00000141646 ; xref: REACTOME:Q13485] Gene [OrphaNum:119306 ; Name:Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) ; Symbol:CDKN2A ; xref: GENATLAS:CDKN2A ; xref: HGNC:1787 ; xref: OMIM:600160 ; xref: UNIPROTKB/SWISSPROT:Q8N726 ; xref: ENSEMBL:ENSG00000147889] Gene [OrphaNum:119072 ; Name:Breast cancer 2, early onset ; Symbol:BRCA2 ; xref: GENATLAS:BRCA2 ; xref: HGNC:1101 ; xref: OMIM:600185 ; xref: UNIPROTKB/SWISSPROT:P51587 ; xref: REACTOME:P51587 ; xref: ENSEMBL:ENSG00000139618] Orphanet ID- 3708 Gene [OrphaNum:139189 ; Name:Partner and localizer of BRCA2 ; Symbol:PALB2 ; xref: GENATLAS:PALB2 ; xref: HGNC:26144 ; xref: OMIM:610355 ; xref: UNIPROTKB/SWISSPROT:Q86YC2 ; xref: REACTOME:Q86YC2 ; xref: ENSEMBL:ENSG00000083093] Gene [OrphaNum:119068 ; Name:Breast cancer 1, early onset ; Symbol:BRCA1 ; xref: GENATLAS:BRCA1 ; xref: HGNC:1100 ; xref: OMIM:113705 ; xref: UNIPROTKB/SWISSPROT:P38398 ; xref: REACTOME:P38398 ; xref: ENSEMBL:ENSG00000012048] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 OMIM:614320 ICD10:C25 OMIM:613348 Familial pancreatic cancer Gene [OrphaNum:120204 ; Name:Tumor protein p53 (Li-Fraumeni syndrome) ; Symbol:TP53 ; xref: ENSEMBL:ENSG00000141510 ; xref: REACTOME:P04637 ; xref: GENATLAS:TP53 ; xref: HGNC:11998 ; xref: OMIM:191170 ; xref: UNIPROTKB/SWISSPROT:P04637] OMIM:613347 ICD10:Z80.0 OMIM:606856 Gene [OrphaNum:122879 ; Name:V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog ; Symbol:KRAS ; xref: GENATLAS:KRAS ; xref: HGNC:6407 ; xref: OMIM:190070 ; xref: UNIPROTKB/SWISSPROT:P01116 ; xref: ENSEMBL:ENSG00000133703 ; xref: REACTOME:P01116] OMIM:260350 Gene [OrphaNum:121424 ; Name:Mesencephalic astrocyte-derived neurotrophic factor ; Symbol:MANF ; xref: HGNC:15461 ; xref: GENATLAS:MANF ; xref: OMIM:601916 ; xref: UNIPROTKB/SWISSPROT:P55145 ; xref: ENSEMBL:ENSG00000145050] EXACT Familial pancreatic cancer Isolated Klippel-Feil syndrome Congenital cervical vertebral fusion Congenital fused cervical segments Klippel-Feil malformation Klippel-Feil sequence prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:613702 Gene [OrphaNum:209481 ; Name:Growth differentiation factor 6 ; Symbol:GDF6 ; xref: ENSEMBL:ENSG00000156466 ; xref: GENATLAS:GDF6 ; xref: HGNC:4221 ; xref: OMIM:601147 ; xref: UNIPROTKB/SWISSPROT:Q6KF10] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 Klippel-Feil malformation OMIM:214300 Congenital fused cervical segments OMIM:118100 Gene [OrphaNum:250181 ; Name:Growth differentiation factor 3 ; Symbol:GDF3 ; xref: ENSEMBL:ENSG00000184344 ; xref: GENATLAS:GDF3 ; xref: HGNC:4218 ; xref: UNIPROTKB/SWISSPROT:Q9NR23 ; xref: OMIM:606522] Klippel-Feil sequence Congenital cervical vertebral fusion Orphanet ID- 3709 ICD10:Q76.1 EXACT Klippel-Feil malformation EXACT Congenital fused cervical segments EXACT Congenital cervical vertebral fusion EXACT Klippel-Feil sequence Autosomal recessive cerebellar ataxia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 Orphanet ID- 3711 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Syringomyelia Hydromelia Hydromelia OMIM:186700 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Orphanet ID- 3712 ICD10:G95.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3280 EXACT Hydromelia Isolated anophthalmia - microphthalmia Clinical anophthalmia Isolated pure microphthalmia Primitive anophthalmia OMIM:613094 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542 OMIM:613517 ICD10:Q11.2 ICD10:Q11.1 OMIM:251600 Gene [OrphaNum:159362 ; Name:Visual system homeobox 2 ; Symbol:VSX2 ; xref: GENATLAS:VSX2 ; xref: HGNC:1975 ; xref: OMIM:142993 ; xref: UNIPROTKB/SWISSPROT:P58304 ; xref: ENSEMBL:ENSG00000119614] Gene [OrphaNum:265147 ; Name:protease, serine, 56 ; Symbol:PRSS56 ; xref: HGNC:39433 ; xref: OMIM:613858 ; xref: UNIPROTKB/SWISSPROT:P0CW18] OMIM:611038 OMIM:610093 OMIM:613704 Clinical anophthalmia Gene [OrphaNum:250181 ; Name:Growth differentiation factor 3 ; Symbol:GDF3 ; xref: ENSEMBL:ENSG00000184344 ; xref: GENATLAS:GDF3 ; xref: HGNC:4218 ; xref: UNIPROTKB/SWISSPROT:Q9NR23 ; xref: OMIM:606522] Primitive anophthalmia Orphanet ID- 3713 Isolated pure microphthalmia Gene [OrphaNum:160006 ; Name:Retina and anterior neural fold homeobox ; Symbol:RAX ; xref: GENATLAS:RAX ; xref: HGNC:18662 ; xref: OMIM:601881 ; xref: UNIPROTKB/SWISSPROT:Q9Y2V3 ; xref: ENSEMBL:ENSG00000134438] EXACT Isolated pure microphthalmia EXACT Clinical anophthalmia EXACT Primitive anophthalmia Megalencephalic leukoencephalopathy with subcortical cysts MLC Megalencephalic leukodystrophy Megalencephaly - cystic leukodystrophy Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Van der Knaap syndrome Orphanet ID- 3715 Megalencephaly - cystic leukodystrophy Gene [OrphaNum:264482 ; Name:hepatic and glial cell adhesion molecule ; Symbol:HEPACAM ; xref: ENSEMBL:ENSG00000165478 ; xref: HGNC:26361 ; xref: OMIM:611642 ; xref: GENATLAS:HEPACAM ; xref: UNIPROTKB/SWISSPROT:Q14CZ8] Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Megalencephalic leukodystrophy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:613925 OMIM:613926 Gene [OrphaNum:123257 ; Name:Megalencephalic leukoencephalopathy with subcortical cysts 1 ; Symbol:MLC1 ; xref: HGNC:17082 ; xref: OMIM:605908 ; xref: UNIPROTKB/SWISSPROT:Q15049 ; xref: GENATLAS:MLC1 ; xref: ENSEMBL:ENSG00000100427] MLC OMIM:604004 ICD10:E75.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478 Van der Knaap syndrome EXACT Megalencephaly - cystic leukodystrophy EXACT Vacuolating megalencephalic leukoencephalopathy with subcortical cysts EXACT MLC EXACT Megalencephalic leukodystrophy EXACT Van der Knaap syndrome Autosomal dominant Larsen syndrome ICD10:Q68.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:150250 Gene [OrphaNum:121860 ; Name:Filamin B, beta (actin binding protein 278) ; Symbol:FLNB ; xref: GENATLAS:FLNB ; xref: HGNC:3755 ; xref: OMIM:603381 ; xref: UNIPROTKB/SWISSPROT:O75369 ; xref: ENSEMBL:ENSG00000136068 ; xref: REACTOME:O75369] Orphanet ID- 3716 Oligomeganephronia Oligomeganephronic renal hypoplasia ICD10:Q60.4 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Sporadic; Oligomeganephronic renal hypoplasia Orphanet ID- 3717 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 EXACT Oligomeganephronic renal hypoplasia Dent disease Dent syndrome Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Renal Fanconi syndrome with nephrocalcinosis and renal stones X-linked recessive hypercalciuric hypophosphatemic rickets X-linked recessive nephrolithiasis Dent syndrome OMIM:310468 OMIM:308990 Orphanet ID- 3719 OMIM:300555 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 OMIM:300554 Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis X-linked recessive nephrolithiasis OMIM:300009 ICD10:N39.8 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive; X-linked recessive hypercalciuric hypophosphatemic rickets Renal Fanconi syndrome with nephrocalcinosis and renal stones EXACT X-linked recessive hypercalciuric hypophosphatemic rickets EXACT Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis EXACT X-linked recessive nephrolithiasis EXACT Dent syndrome EXACT Renal Fanconi syndrome with nephrocalcinosis and renal stones Congenital osteogenesis imperfecta - microcephaly - cataracts Orphanet ID- 372 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 OMIM:259410 ICD10:Q78.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Pseudohypoaldosteronism type 2 Chloride shunt syndrome Familial hyperkalemic hypertension Gordon syndrome Hyperkaliemia - hypertension, Gordon type Hypertensive hyperkalemia Mineralocorticoid resistant hyperkalemia PHA2 PHAII Spitzer-Weinstein syndrome OMIM:614496 Spitzer-Weinstein syndrome OMIM:614492 OMIM:614495 OMIM:614491 PHA2 ICD10:I15.2 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Autosomal dominant; PHAII Mineralocorticoid resistant hyperkalemia OMIM:145260 Gordon syndrome Familial hyperkalemic hypertension Orphanet ID- 3723 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757 Hypertensive hyperkalemia Hyperkaliemia - hypertension, Gordon type Chloride shunt syndrome EXACT Mineralocorticoid resistant hyperkalemia EXACT PHA2 EXACT Familial hyperkalemic hypertension EXACT Hyperkaliemia - hypertension, Gordon type EXACT Spitzer-Weinstein syndrome EXACT Chloride shunt syndrome EXACT Hypertensive hyperkalemia EXACT Gordon syndrome EXACT PHAII Nephrogenic diabetes insipidus prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Orphanet ID- 3726 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223 Gene [OrphaNum:121410 ; Name:Aquaporin 2 (collecting duct) ; Symbol:AQP2 ; xref: GENATLAS:AQP2 ; xref: HGNC:634 ; xref: OMIM:107777 ; xref: UNIPROTKB/SWISSPROT:P41181 ; xref: REACTOME:P41181 ; xref: ENSEMBL:ENSG00000167580] OMIM:125800 OMIM:304800 ICD10:N25.1 Gene [OrphaNum:118947 ; Name:Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ; Symbol:AVPR2 ; xref: GENATLAS:AVPR2 ; xref: HGNC:897 ; xref: OMIM:300538 ; xref: UNIPROTKB/SWISSPROT:P30518 ; xref: ENSEMBL:ENSG00000126895 ; xref: IUPHAR:368 ; xref: REACTOME:P30518] Primary Fanconi syndrome Primary Fanconi renotubular syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 3727 ICD10:E72.0 OMIM:613388 Primary Fanconi renotubular syndrome OMIM:134600 Gene [OrphaNum:227390 ; Name:Solute carrier family 34 (sodium phosphate), member 1 ; Symbol:SLC34A1 ; xref: GENATLAS:SLC34A1 ; xref: HGNC:11019 ; xref: UNIPROTKB/SWISSPROT:Q06495 ; xref: OMIM:182309 ; xref: ENSEMBL:ENSG00000131183 ; xref: REACTOME:Q06495] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 EXACT Primary Fanconi renotubular syndrome Pseudoxanthoma elasticum Gronblad-Strandberg-Touraine syndrome PXE PXE Gronblad-Strandberg-Touraine syndrome OMIM:264800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 Orphanet ID- 3728 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:117658 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 6 ; Symbol:ABCC6 ; xref: GENATLAS:ABCC6 ; xref: HGNC:57 ; xref: OMIM:603234 ; xref: UNIPROTKB/SWISSPROT:O95255 ; xref: REACTOME:O95255 ; xref: ENSEMBL:ENSG00000091262] OMIM:177850 ICD10:Q82.8 EXACT PXE EXACT Gronblad-Strandberg-Touraine syndrome Hyperprolinemia type 1 Proline oxidase deficiency OMIM:239500 ICD10:E72.5 Proline oxidase deficiency Gene [OrphaNum:118032 ; Name:Proline dehydrogenase (oxidase) 1 ; Symbol:PRODH ; xref: GENATLAS:PRODH ; xref: HGNC:9453 ; xref: OMIM:606810 ; xref: UNIPROTKB/SWISSPROT:O43272 ; xref: REACTOME:O43272 ; xref: ENSEMBL:ENSG00000100033] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 Orphanet ID- 3729 EXACT Proline oxidase deficiency Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit Al Gazali-Nair syndrome Orphanet ID- 373 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 Al Gazali-Nair syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; EXACT Al Gazali-Nair syndrome Langerhans cell histiocytosis Histiocytosis X Langerhans cell granulomatosis Langerhans cell granulomatosis ICD10:D76.0 Histiocytosis X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=389 Orphanet ID- 3768 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Unknown; Gene [OrphaNum:119066 ; Name:V-raf murine sarcoma viral oncogene homolog B1 ; Symbol:BRAF ; xref: GENATLAS:BRAF ; xref: HGNC:1097 ; xref: OMIM:164757 ; xref: UNIPROTKB/SWISSPROT:P15056 ; xref: REACTOME:P15056 ; xref: ENSEMBL:ENSG00000157764] OMIM:604856 EXACT Langerhans cell granulomatosis EXACT Histiocytosis X Pentasomy X 49,XXXXX Penta-X Poly-X Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11 Penta-X Poly-X 49,XXXXX Orphanet ID- 378 ICD10:Q97.1 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; EXACT Penta-X EXACT Poly-X EXACT 49,XXXXX Sandhoff disease GM2 gangliosidosis 0 variant Hexosaminidases A and B deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 Gene [OrphaNum:122404 ; Name:Hexosaminidase B (beta polypeptide) ; Symbol:HEXB ; xref: GENATLAS:HEXB ; xref: ENSEMBL:ENSG00000049860 ; xref: HGNC:4879 ; xref: OMIM:606873 ; xref: UNIPROTKB/SWISSPROT:P07686 ; xref: REACTOME:P07686] Hexosaminidases A and B deficiency GM2 gangliosidosis 0 variant ICD10:E75.0 Orphanet ID- 38 OMIM:268800 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; EXACT Hexosaminidases A and B deficiency EXACT GM2 gangliosidosis 0 variant Refsum disease HMSN 4 Hereditary motor and sensory neuropathy type 4 Heredopathia atactica polyneuritiformis Phytanic acid oxidase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 Gene [OrphaNum:124219 ; Name:Peroxisomal biogenesis factor 7 ; Symbol:PEX7 ; xref: GENATLAS:PEX7 ; xref: HGNC:8860 ; xref: OMIM:601757 ; xref: UNIPROTKB/SWISSPROT:O00628 ; xref: ENSEMBL:ENSG00000112357] HMSN 4 Orphanet ID- 381 Phytanic acid oxidase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Heredopathia atactica polyneuritiformis OMIM:600964 OMIM:266500 Hereditary motor and sensory neuropathy type 4 ICD10:G60.1 Gene [OrphaNum:117810 ; Name:Phytanoyl-CoA 2-hydroxylase ; Symbol:PHYH ; xref: GENATLAS:PHYH ; xref: HGNC:8940 ; xref: OMIM:602026 ; xref: UNIPROTKB/SWISSPROT:O14832 ; xref: ENSEMBL:ENSG00000107537 ; xref: REACTOME:O14832] EXACT Hereditary motor and sensory neuropathy type 4 EXACT HMSN 4 EXACT Heredopathia atactica polyneuritiformis EXACT Phytanic acid oxidase deficiency Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism ICD10:H90.5 Orphanet ID- 384 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 OMIM:268020 ICD10:H35.5 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Smith-Magenis syndrome 17p11.2 microdeletion ICD10:Q87.8 OMIM:182290 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; 17p11.2 microdeletion Gene [OrphaNum:118220 ; Name:Retinoic acid induced 1 ; Symbol:RAI1 ; xref: GENATLAS:RAI1 ; xref: HGNC:9834 ; xref: OMIM:607642 ; xref: UNIPROTKB/SWISSPROT:Q7Z5J4 ; xref: ENSEMBL:ENSG00000108557] Orphanet ID- 387 Gene [OrphaNum:123205 ; Name:Microfibrillar-associated protein 4 ; Symbol:MFAP4 ; xref: GENATLAS:MFAP4 ; xref: HGNC:7035 ; xref: OMIM:600596 ; xref: UNIPROTKB/SWISSPROT:P55083 ; xref: ENSEMBL:ENSG00000166482] Gene [OrphaNum:121850 ; Name:Flightless I homolog (Drosophila) ; Symbol:FLII ; xref: GENATLAS:FLII ; xref: HGNC:3750 ; xref: OMIM:600362 ; xref: UNIPROTKB/SWISSPROT:Q13045 ; xref: ENSEMBL:ENSG00000177731] EXACT 17p11.2 microdeletion Tetrasomy X 48,XXXX Quadruple X Tetra X ICD10:Q97.1 Quadruple X 48,XXXX prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 Orphanet ID- 390 Tetra X EXACT Quadruple X EXACT 48,XXXX EXACT Tetra X Nail-patella syndrome Onychoosteodysplasia Turner-Kieser syndrome OMIM:161200 Orphanet ID- 392 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.2 Gene [OrphaNum:123102 ; Name:LIM homeobox transcription factor 1, beta ; Symbol:LMX1B ; xref: GENATLAS:LMX1B ; xref: HGNC:6654 ; xref: OMIM:602575 ; xref: UNIPROTKB/SWISSPROT:O60663 ; xref: ENSEMBL:ENSG00000136944] Onychoosteodysplasia Turner-Kieser syndrome EXACT Turner-Kieser syndrome EXACT Onychoosteodysplasia Aarskog-Scott syndrome Aarskog syndrome Faciodigitogenital syndrome Faciogenital dysplasia Aarskog syndrome Faciogenital dysplasia Gene [OrphaNum:121790 ; Name:FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia) ; Symbol:FGD1 ; xref: GENATLAS:FGD1 ; xref: HGNC:3663 ; xref: OMIM:300546 ; xref: UNIPROTKB/SWISSPROT:P98174 ; xref: ENSEMBL:ENSG00000102302 ; xref: REACTOME:P98174] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:Q87.1 Faciodigitogenital syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 OMIM:305400 Orphanet ID- 394 OMIM:100050 EXACT Aarskog syndrome EXACT Faciodigitogenital syndrome EXACT Faciogenital dysplasia Acanthosis nigricans prevalence- null; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; ICD10:L83 OMIM:100600 Orphanet ID- 396 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=924 Isovaleric acidemia Isovaleric acid CoA dehydrogenase deficiency Gene [OrphaNum:122716 ; Name:Isovaleryl Coenzyme A dehydrogenase ; Symbol:IVD ; xref: GENATLAS:IVD ; xref: HGNC:6186 ; xref: OMIM:607036 ; xref: UNIPROTKB/SWISSPROT:P26440 ; xref: REACTOME:P26440 ; xref: ENSEMBL:ENSG00000128928] Isovaleric acid CoA dehydrogenase deficiency Orphanet ID- 399 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 OMIM:243500 ICD10:E71.1 EXACT Isovaleric acid CoA dehydrogenase deficiency Mucopolysaccharidosis type 7 Beta-glucuronidase deficiency Sly disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Sly disease Gene [OrphaNum:122352 ; Name:Glucuronidase, beta ; Symbol:GUSB ; xref: OMIM:611499 ; xref: GENATLAS:GUSB ; xref: HGNC:4696 ; xref: UNIPROTKB/SWISSPROT:P08236 ; xref: ENSEMBL:ENSG00000169919] Orphanet ID- 40 OMIM:253220 Beta-glucuronidase deficiency ICD10:E76.2 EXACT Sly disease EXACT Beta-glucuronidase deficiency 4-hydroxybutyricaciduria Succinic semialdehyde dehydrogenase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 Succinic semialdehyde dehydrogenase deficiency ICD10:E72.8 Gene [OrphaNum:119592 ; Name:Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) ; Symbol:ALDH5A1 ; xref: REACTOME:P51649 ; xref: GENATLAS:ALDH5A1 ; xref: HGNC:408 ; xref: OMIM:610045 ; xref: UNIPROTKB/SWISSPROT:P51649 ; xref: ENSEMBL:ENSG00000112294] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 402 OMIM:271980 EXACT Succinic semialdehyde dehydrogenase deficiency Mevalonic aciduria MVA Mevalonate kinase deficiency Orphanet ID- 403 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 ICD10:E88.8 Gene [OrphaNum:123588 ; Name:Mevalonate kinase (mevalonic aciduria) ; Symbol:MVK ; xref: REACTOME:Q03426 ; xref: GENATLAS:MVK ; xref: HGNC:7530 ; xref: OMIM:251170 ; xref: UNIPROTKB/SWISSPROT:Q03426 ; xref: ENSEMBL:ENSG00000110921] MVA Mevalonate kinase deficiency OMIM:610377 EXACT MVA EXACT Mevalonate kinase deficiency Hereditary orotic aciduria Oroticaciduria Orotidylic decarboxylase deficiency Uridine monophosphate synthetase deficiency Oroticaciduria ICD10:D53.0 Orphanet ID- 404 Orotidylic decarboxylase deficiency Uridine monophosphate synthetase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; OMIM:258900 Gene [OrphaNum:120414 ; Name:Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) ; Symbol:UMPS ; xref: ENSEMBL:ENSG00000114491 ; xref: REACTOME:P11172 ; xref: GENATLAS:UMPS ; xref: HGNC:12563 ; xref: UNIPROTKB/SWISSPROT:P11172 ; xref: OMIM:613891] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 EXACT Orotidylic decarboxylase deficiency EXACT Oroticaciduria EXACT Uridine monophosphate synthetase deficiency Ehlers-Danlos syndrome, hypermobility type BJHS Benign joint hypermobility syndrome EDS III Ehlers-Danlos syndrome type 3 Ehlers-Danlos syndrome, hypermobile type OMIM:130020 Orphanet ID- 4041 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 Benign joint hypermobility syndrome Ehlers-Danlos syndrome, hypermobile type BJHS Gene [OrphaNum:120713 ; Name:Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ; Symbol:COL3A1 ; xref: GENATLAS:COL3A1 ; xref: HGNC:2201 ; xref: OMIM:120180 ; xref: UNIPROTKB/SWISSPROT:P02461 ; xref: ENSEMBL:ENSG00000168542 ; xref: REACTOME:P02461] ICD10:Q79.6 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120194 ; Name:Tenascin XB ; Symbol:TNXB ; xref: GENATLAS:TNXB ; xref: HGNC:11976 ; xref: OMIM:600985 ; xref: UNIPROTKB/SWISSPROT:P22105 ; xref: ENSEMBL:ENSG00000168477] Ehlers-Danlos syndrome type 3 EDS III EXACT EDS III EXACT Ehlers-Danlos syndrome type 3 EXACT Ehlers-Danlos syndrome, hypermobile type EXACT BJHS EXACT Benign joint hypermobility syndrome Ehlers-Danlos syndrome, vascular type EDS IV EDS type 4 Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV Sack-Barabas syndrome EDS type 4 Ehlers-Danlos syndrome type 4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 EDS IV ICD10:Q79.6 OMIM:130050 Orphanet ID- 4042 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:120713 ; Name:Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) ; Symbol:COL3A1 ; xref: GENATLAS:COL3A1 ; xref: HGNC:2201 ; xref: OMIM:120180 ; xref: UNIPROTKB/SWISSPROT:P02461 ; xref: ENSEMBL:ENSG00000168542 ; xref: REACTOME:P02461] Sack-Barabas syndrome Ehlers-Danlos syndrome type IV EXACT EDS type 4 EXACT EDS IV EXACT Ehlers-Danlos syndrome type IV EXACT Ehlers-Danlos syndrome type 4 EXACT Sack-Barabas syndrome Ehlers-Danlos syndrome, kyphoscoliotic type EDS VIA EDS, kyphoscoliotic type EDS, oculoscoliotic type Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, oculoscoliotic type Gene [OrphaNum:117888 ; Name:Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 ; Symbol:PLOD1 ; xref: GENATLAS:PLOD1 ; xref: HGNC:9081 ; xref: OMIM:153454 ; xref: UNIPROTKB/SWISSPROT:Q02809 ; xref: ENSEMBL:ENSG00000083444] OMIM:225400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 EDS, oculoscoliotic type EDS, kyphoscoliotic type Ehlers-Danlos syndrome type 6A ICD10:Q79.6 Ehlers-Danlos syndrome, oculoscoliotic type Orphanet ID- 4043 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EDS VIA EXACT EDS, oculoscoliotic type EXACT EDS, kyphoscoliotic type EXACT Ehlers-Danlos syndrome type 6A EXACT Ehlers-Danlos syndrome, oculoscoliotic type EXACT EDS VIA Ehlers-Danlos syndrome, arthrochalasic type EDS VII Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome, arthrochalasia type Orphanet ID- 4044 ICD10:Q79.6 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Ehlers-Danlos syndrome, arthrochalasia type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 Ehlers-Danlos syndrome type 7 EDS VII OMIM:130060 EXACT Ehlers-Danlos syndrome, arthrochalasia type EXACT Ehlers-Danlos syndrome type 7 EXACT EDS VII Ehlers-Danlos syndrome, dermatosparaxis type EDS VIIC Ehlers-Danlos syndrome type 7C OMIM:225410 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Ehlers-Danlos syndrome type 7C EDS VIIC ICD10:Q79.6 Gene [OrphaNum:117780 ; Name:ADAM metallopeptidase with thrombospondin type 1 motif, 2 ; Symbol:ADAMTS2 ; xref: GENATLAS:ADAMTS2 ; xref: HGNC:218 ; xref: OMIM:604539 ; xref: UNIPROTKB/SWISSPROT:O95450 ; xref: ENSEMBL:ENSG00000087116] Orphanet ID- 4045 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 EXACT EDS VIIC EXACT Ehlers-Danlos syndrome type 7C Epidermolysis bullosa simplex - limb girdle muscular dystrophy EBS-MD Limb girdle dystrophy with epidermolysis bullosa simplex Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 Gene [OrphaNum:117877 ; Name:Plectin ; Symbol:PLEC ; xref: HGNC:9069 ; xref: GENATLAS:PLEC ; xref: OMIM:601282 ; xref: UNIPROTKB/SWISSPROT:Q15149 ; xref: REACTOME:Q15149 ; xref: ENSEMBL:ENSG00000178209] Limb girdle dystrophy with epidermolysis bullosa simplex Orphanet ID- 4046 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EBS-MD ICD10:G71.0 OMIM:226670 ICD10:Q81.0 EXACT Limb girdle dystrophy with epidermolysis bullosa simplex EXACT EBS-MD Congenital nephrotic syndrome, Finnish type Finnish congenital nephrosis Orphanet ID- 4048 Gene [OrphaNum:123889 ; Name:Nephrosis 1, congenital, Finnish type (nephrin) ; Symbol:NPHS1 ; xref: GENATLAS:NPHS1 ; xref: HGNC:7908 ; xref: OMIM:602716 ; xref: UNIPROTKB/SWISSPROT:O60500 ; xref: ENSEMBL:ENSG00000161270 ; xref: REACTOME:O60500] Finnish congenital nephrosis ICD10:N04 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; OMIM:256300 EXACT Finnish congenital nephrosis Acrocallosal syndrome ACS ICD10:Q04.0 ACS OMIM:200990 Orphanet ID- 405 Gene [OrphaNum:122167 ; Name:GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) ; Symbol:GLI3 ; xref: ENSEMBL:ENSG00000106571 ; xref: GENATLAS:GLI3 ; xref: HGNC:4319 ; xref: OMIM:165240 ; xref: UNIPROTKB/SWISSPROT:P10071] Gene [OrphaNum:268061 ; Name:kinesin family member 7 ; Symbol:KIF7 ; xref: HGNC:30497 ; xref: OMIM:611254 ; xref: GENATLAS:KIF7 ; xref: UNIPROTKB/SWISSPROT:Q2M1P5 ; xref: ENSEMBL:ENSG00000166813] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT ACS Miller-Dieker syndrome Lissencephaly due to 17p13.3 deletion Monosomy 17p13.3 Telomeric deletion 17p Telomeric deletion 17p OMIM:247200 Monosomy 17p13.3 Orphanet ID- 4054 ICD10:Q04.3 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:124062 ; Name:Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa ; Symbol:PAFAH1B1 ; xref: GENATLAS:PAFAH1B1 ; xref: HGNC:8574 ; xref: OMIM:601545 ; xref: UNIPROTKB/SWISSPROT:P43034 ; xref: REACTOME:P43034 ; xref: ENSEMBL:ENSG00000007168] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 Lissencephaly due to 17p13.3 deletion Gene [OrphaNum:122417 ; Name:Hypermethylated in cancer 1 ; Symbol:HIC1 ; xref: GENATLAS:HIC1 ; xref: HGNC:4909 ; xref: OMIM:603825 ; xref: UNIPROTKB/SWISSPROT:Q14526 ; xref: ENSEMBL:ENSG00000177374] EXACT Telomeric deletion 17p EXACT Monosomy 17p13.3 EXACT Lissencephaly due to 17p13.3 deletion X-linked lissencephaly with abnormal genitalia X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies X-linked lissencephaly with ambiguous genitalia XLAG syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 OMIM:300215 Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:Q04.3 X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies X-linked lissencephaly with ambiguous genitalia Orphanet ID- 4057 ICD10:Q04.0 XLAG syndrome EXACT XLAG syndrome EXACT X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies EXACT X-linked lissencephaly with ambiguous genitalia Isolated lissencephaly type 1 without known genetic defects prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 Orphanet ID- 4058 ICD10:Q04.3 Microlissencephaly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 ICD10:Q04.3 OMIM:614019 Orphanet ID- 4059 Gene [OrphaNum:281616 ; Name:NudE nuclear distribution gene E homolog 1 (A. nidulans) ; Symbol:NDE1 ; xref: HGNC:17619 ; xref: OMIM:609449 ; xref: GENATLAS:NDE1 ; xref: UNIPROTKB/SWISSPROT:Q9NXR1 ; xref: ENSEMBL:ENSG00000072864 ; xref: REACTOME:Q9NXR1] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Acrofacial dysostosis, Nager type Mandibulofacial dysostosis with preaxial limb anomalies Nager acrofacial dysostosis Nager syndrome Preaxial acrodysostosis OMIM:154400 ICD10:Q75.4 Mandibulofacial dysostosis with preaxial limb anomalies prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Nager syndrome Gene [OrphaNum:302925 ; Name:Splicing factor 3b, subunit 4, 49kDa ; Symbol:SF3B4 ; xref: HGNC:10771 ; xref: OMIM:605593 ; xref: GENATLAS:SF3B4 ; xref: UNIPROTKB/SWISSPROT:Q15427] Preaxial acrodysostosis Orphanet ID- 407 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 Nager acrofacial dysostosis EXACT Nager syndrome EXACT Nager acrofacial dysostosis EXACT Mandibulofacial dysostosis with preaxial limb anomalies EXACT Preaxial acrodysostosis Acromegaly ICD10:E22.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=963 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:119872 ; Name:Somatostatin receptor 5 ; Symbol:SSTR5 ; xref: GENATLAS:SSTR5 ; xref: HGNC:11334 ; xref: OMIM:182455 ; xref: UNIPROTKB/SWISSPROT:P35346 ; xref: IUPHAR:359 ; xref: ENSEMBL:ENSG00000162009 ; xref: REACTOME:P35346] Orphanet ID- 408 Gene [OrphaNum:200951 ; Name:Aryl hydrocarbon receptor interacting protein ; Symbol:AIP ; xref: ENSEMBL:ENSG00000110711 ; xref: GENATLAS:AIP ; xref: HGNC:358 ; xref: OMIM:605555 ; xref: UNIPROTKB/SWISSPROT:O00170] OMIM:102200 Neonatal adrenoleukodystrophy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:202370 Gene [OrphaNum:124200 ; Name:Peroxisomal biogenesis factor 16 ; Symbol:PEX16 ; xref: GENATLAS:PEX16 ; xref: HGNC:8857 ; xref: OMIM:603360 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y5 ; xref: ENSEMBL:ENSG00000121680] Gene [OrphaNum:124206 ; Name:Peroxisome biogenesis factor 26 ; Symbol:PEX26 ; xref: GENATLAS:PEX26 ; xref: HGNC:22965 ; xref: OMIM:608666 ; xref: UNIPROTKB/SWISSPROT:Q7Z412 ; xref: ENSEMBL:ENSG00000215193] Gene [OrphaNum:124189 ; Name:Peroxisome biogenesis factor 1 ; Symbol:PEX1 ; xref: GENATLAS:PEX1 ; xref: HGNC:8850 ; xref: OMIM:602136 ; xref: UNIPROTKB/SWISSPROT:O43933 ; xref: ENSEMBL:ENSG00000127980] Gene [OrphaNum:124191 ; Name:Peroxisome biogenesis factor 10 ; Symbol:PEX10 ; xref: GENATLAS:PEX10 ; xref: HGNC:8851 ; xref: OMIM:602859 ; xref: UNIPROTKB/SWISSPROT:O60683 ; xref: ENSEMBL:ENSG00000157911] Gene [OrphaNum:124196 ; Name:Peroxisome biogenesis factor 13 ; Symbol:PEX13 ; xref: GENATLAS:PEX13 ; xref: HGNC:8855 ; xref: OMIM:601789 ; xref: UNIPROTKB/SWISSPROT:Q92968 ; xref: ENSEMBL:ENSG00000162928] Gene [OrphaNum:124202 ; Name:Peroxisomal biogenesis factor 19 ; Symbol:PEX19 ; xref: GENATLAS:PEX19 ; xref: HGNC:9713 ; xref: OMIM:600279 ; xref: UNIPROTKB/SWISSPROT:P40855 ; xref: ENSEMBL:ENSG00000162735 ; xref: REACTOME:P40855] Gene [OrphaNum:124211 ; Name:Peroxisomal biogenesis factor 5 ; Symbol:PEX5 ; xref: GENATLAS:PEX5 ; xref: HGNC:9719 ; xref: OMIM:600414 ; xref: UNIPROTKB/SWISSPROT:P50542 ; xref: ENSEMBL:ENSG00000139197] Gene [OrphaNum:124209 ; Name:Peroxisomal biogenesis factor 3 ; Symbol:PEX3 ; xref: GENATLAS:PEX3 ; xref: HGNC:8858 ; xref: OMIM:603164 ; xref: UNIPROTKB/SWISSPROT:P56589 ; xref: REACTOME:P56589 ; xref: ENSEMBL:ENSG00000034693] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 ICD10:E71.3 Gene [OrphaNum:124198 ; Name:Peroxisomal biogenesis factor 14 ; Symbol:PEX14 ; xref: GENATLAS:PEX14 ; xref: HGNC:8856 ; xref: OMIM:601791 ; xref: UNIPROTKB/SWISSPROT:O75381 ; xref: ENSEMBL:ENSG00000142655] Gene [OrphaNum:124194 ; Name:Peroxisomal biogenesis factor 12 ; Symbol:PEX12 ; xref: ENSEMBL:ENSG00000108733 ; xref: GENATLAS:PEX12 ; xref: HGNC:8854 ; xref: OMIM:601758 ; xref: UNIPROTKB/SWISSPROT:O00623] Gene [OrphaNum:124215 ; Name:Peroxisomal biogenesis factor 6 ; Symbol:PEX6 ; xref: GENATLAS:PEX6 ; xref: HGNC:8859 ; xref: OMIM:601498 ; xref: UNIPROTKB/SWISSPROT:Q13608 ; xref: ENSEMBL:ENSG00000124587] Orphanet ID- 410 Gene [OrphaNum:118174 ; Name:Peroxisomal biogenesis factor 2 ; Symbol:PEX2 ; xref: GENATLAS:PXMP3 ; xref: HGNC:9717 ; xref: OMIM:170993 ; xref: UNIPROTKB/SWISSPROT:P28328 ; xref: ENSEMBL:ENSG00000164751] Alkaptonuria Hereditary ochronosis Homogentisic acid oxidase deficiency Gene [OrphaNum:122408 ; Name:Homogentisate 1,2-dioxygenase (homogentisate oxidase) ; Symbol:HGD ; xref: ENSEMBL:ENSG00000113924 ; xref: GENATLAS:HGD ; xref: HGNC:4892 ; xref: OMIM:607474 ; xref: UNIPROTKB/SWISSPROT:Q93099 ; xref: REACTOME:Q93099] Homogentisic acid oxidase deficiency OMIM:203500 ICD10:E70.2 Hereditary ochronosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 Orphanet ID- 411 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; EXACT Hereditary ochronosis EXACT Homogentisic acid oxidase deficiency Alopecia antibody deficiency OMIM:104000 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1006 Orphanet ID- 412 Lethal hemolytic anemia - genital anomalies Water-West syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 Water-West syndrome Orphanet ID- 413 OMIM:600461 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Unknown; ICD10:D58.8 EXACT Water-West syndrome Blue rubber bleb nevus Bean syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 OMIM:112200 ICD10:Q27.8 Orphanet ID- 415 Bean syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; EXACT Bean syndrome Aniridia - cerebellar ataxia - intellectual deficit Gillespie syndrome Orphanet ID- 416 Gillespie syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] OMIM:206700 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Gillespie syndrome Argininemia Arginase deficiency Hyperargininemia Hyperargininemia prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:207800 ICD10:E72.2 Arginase deficiency Orphanet ID- 417 Gene [OrphaNum:121415 ; Name:Arginase, liver ; Symbol:ARG1 ; xref: GENATLAS:ARG1 ; xref: HGNC:663 ; xref: OMIM:608313 ; xref: UNIPROTKB/SWISSPROT:P05089 ; xref: REACTOME:P05089 ; xref: ENSEMBL:ENSG00000118520] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 EXACT Hyperargininemia EXACT Arginase deficiency Arrhinia - choanal atresia - microphthalmia Orphanet ID- 418 OMIM:603457 ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1135 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Recessive X-linked ichthyosis RXLI Steroid sulfatase deficiency X-linked ichthyosis XLI Orphanet ID- 42 OMIM:308100 XLI ICD10:Q80.1 RXLI Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 X-linked ichthyosis prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; Gene [OrphaNum:119888 ; Name:Steroid sulfatase (microsomal), isozyme S ; Symbol:STS ; xref: REACTOME:P08842 ; xref: GENATLAS:STS ; xref: HGNC:11425 ; xref: OMIM:300747 ; xref: UNIPROTKB/SWISSPROT:P08842 ; xref: ENSEMBL:ENSG00000101846] OMIM:300001 Steroid sulfatase deficiency EXACT Steroid sulfatase deficiency EXACT RXLI EXACT X-linked ichthyosis EXACT XLI Neurogenic arthrogryposis multiplex congenita prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 420 ICD10:Q74.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 OMIM:208100 Digitotalar dysmorphism DA1 DA1A Distal arthrogryposis type 1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 OMIM:126050 Orphanet ID- 421 OMIM:614335 OMIM:108120 DA1A Gene [OrphaNum:227077 ; Name:Myosin binding protein C, slow type ; Symbol:MYBPC1 ; xref: GENATLAS:MYBPC1 ; xref: HGNC:7549 ; xref: OMIM:160794 ; xref: UNIPROTKB/SWISSPROT:Q00872 ; xref: ENSEMBL:ENSG00000196091 ; xref: REACTOME:Q00872] ICD10:Q74.3 Distal arthrogryposis type 1 Gene [OrphaNum:120223 ; Name:Tropomyosin 2 (beta) ; Symbol:TPM2 ; xref: GENATLAS:TPM2 ; xref: HGNC:12011 ; xref: OMIM:190990 ; xref: UNIPROTKB/SWISSPROT:P07951 ; xref: ENSEMBL:ENSG00000198467 ; xref: REACTOME:P07951] DA1 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Distal arthrogryposis type 1 EXACT DA1A EXACT DA1 Sheldon-Hall syndrome Distal Arthrogryposis type 2B Freeman-Sheldon syndrome variant ICD10:Q74.3 OMIM:601680 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Distal Arthrogryposis type 2B Gene [OrphaNum:123617 ; Name:Myosin, heavy chain 3, skeletal muscle, embryonic ; Symbol:MYH3 ; xref: GENATLAS:MYH3 ; xref: HGNC:7573 ; xref: OMIM:160720 ; xref: UNIPROTKB/SWISSPROT:P11055 ; xref: ENSEMBL:ENSG00000109063 ; xref: REACTOME:P11055] Gene [OrphaNum:120192 ; Name:Troponin T type 3 (skeletal, fast) ; Symbol:TNNT3 ; xref: ENSEMBL:ENSG00000130595 ; xref: GENATLAS:TNNT3 ; xref: HGNC:11950 ; xref: OMIM:600692 ; xref: UNIPROTKB/SWISSPROT:P45378 ; xref: REACTOME:P45378] Freeman-Sheldon syndrome variant Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 Gene [OrphaNum:120182 ; Name:Troponin I type 2 (skeletal, fast) ; Symbol:TNNI2 ; xref: ENSEMBL:ENSG00000130598 ; xref: REACTOME:P48788 ; xref: GENATLAS:TNNI2 ; xref: HGNC:11946 ; xref: OMIM:191043 ; xref: UNIPROTKB/SWISSPROT:P48788] Gene [OrphaNum:120223 ; Name:Tropomyosin 2 (beta) ; Symbol:TPM2 ; xref: GENATLAS:TPM2 ; xref: HGNC:12011 ; xref: OMIM:190990 ; xref: UNIPROTKB/SWISSPROT:P07951 ; xref: ENSEMBL:ENSG00000198467 ; xref: REACTOME:P07951] Orphanet ID- 422 EXACT Freeman-Sheldon syndrome variant EXACT Distal Arthrogryposis type 2B Arthrogryposis multiplex congenita - lissencephaly Massa-Casaer-Ceulemans syndrome prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Massa-Casaer-Ceulemans syndrome Orphanet ID- 423 ICD10:Q04.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1152 ICD10:Q74.3 EXACT Massa-Casaer-Ceulemans syndrome Arthrogryposis - ophthalmoplegia - retinopathy Distal arthrogryposis type 5 Distal arthrogryposis type IIB Oculomelic amyoplasia Distal arthrogryposis type IIB Distal arthrogryposis type 5 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154 OMIM:108145 Orphanet ID- 424 ICD10:Q74.3 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Oculomelic amyoplasia EXACT Distal arthrogryposis type 5 EXACT Oculomelic amyoplasia EXACT Distal arthrogryposis type IIB Arthrogryposis due to muscular dystrophy OMIM:253900 ICD10:M62.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1155 Orphanet ID- 425 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Blackfan-Diamond disease Aase syndrome Aase-Smith II syndrome Blackfan-Diamond anemia Congenital PRCA Congenital hypoplastic anemia, Blackfan-Diamond type Congenital pure red cell aplasia Gene [OrphaNum:171052 ; Name:Ribosomal protein L5 ; Symbol:RPL5 ; xref: GENATLAS:RPL5 ; xref: HGNC:10360 ; xref: OMIM:603634 ; xref: UNIPROTKB/SWISSPROT:P46777 ; xref: REACTOME:P46777 ; xref: ENSEMBL:ENSG00000122406] Aase syndrome Blackfan-Diamond anemia Congenital PRCA Aase-Smith II syndrome OMIM:606164 OMIM:613309 Orphanet ID- 429 OMIM:613308 Gene [OrphaNum:171055 ; Name:Ribosomal protein L11 ; Symbol:RPL11 ; xref: GENATLAS:RPL11 ; xref: HGNC:10301 ; xref: OMIM:604175 ; xref: UNIPROTKB/SWISSPROT:P62913 ; xref: ENSEMBL:ENSG00000142676 ; xref: REACTOME:P62913] Gene [OrphaNum:171050 ; Name:Ribosomal protein S7 ; Symbol:RPS7 ; xref: ENSEMBL:ENSG00000171863 ; xref: GENATLAS:RPS7 ; xref: HGNC:10440 ; xref: OMIM:603658 ; xref: UNIPROTKB/SWISSPROT:P62081 ; xref: REACTOME:P62081] Congenital pure red cell aplasia OMIM:606129 Congenital hypoplastic anemia, Blackfan-Diamond type Gene [OrphaNum:171057 ; Name:Ribosomal protein L35a ; Symbol:RPL35A ; xref: GENATLAS:RPL35A ; xref: HGNC:10345 ; xref: OMIM:180468 ; xref: UNIPROTKB/SWISSPROT:P18077 ; xref: REACTOME:P18077 ; xref: ENSEMBL:ENSG00000182899] ICD10:D61.0 Gene [OrphaNum:225337 ; Name:Ribosomal protein S26 ; Symbol:RPS26 ; xref: ENSEMBL:ENSG00000197728 ; xref: REACTOME:P62854 ; xref: GENATLAS:RPS26 ; xref: HGNC:10414 ; xref: OMIM:603701 ; xref: UNIPROTKB/SWISSPROT:P62854] OMIM:612561 OMIM:105650 Gene [OrphaNum:118403 ; Name:Ribosomal protein S24 ; Symbol:RPS24 ; xref: GENATLAS:RPS24 ; xref: HGNC:10411 ; xref: OMIM:602412 ; xref: UNIPROTKB/SWISSPROT:P62847 ; xref: ENSEMBL:ENSG00000138326 ; xref: REACTOME:P62847] OMIM:612563 OMIM:612527 OMIM:612562 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; OMIM:612528 Gene [OrphaNum:158382 ; Name:Ribosomal protein S17 ; Symbol:RPS17 ; xref: REACTOME:P08708 ; xref: GENATLAS:RPS17 ; xref: HGNC:10397 ; xref: OMIM:180472 ; xref: UNIPROTKB/SWISSPROT:P08708 ; xref: ENSEMBL:ENSG00000184779] Gene [OrphaNum:225334 ; Name:Ribosomal protein S10 ; Symbol:RPS10 ; xref: ENSEMBL:ENSG00000124614 ; xref: REACTOME:P46783 ; xref: GENATLAS:RPS10 ; xref: HGNC:10383 ; xref: OMIM:603632 ; xref: UNIPROTKB/SWISSPROT:P46783] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 OMIM:610629 Gene [OrphaNum:118400 ; Name:Ribosomal protein S19 ; Symbol:RPS19 ; xref: GENATLAS:RPS19 ; xref: HGNC:10402 ; xref: OMIM:603474 ; xref: UNIPROTKB/SWISSPROT:P39019 ; xref: REACTOME:P39019 ; xref: ENSEMBL:ENSG00000105372] EXACT Congenital PRCA EXACT Congenital hypoplastic anemia, Blackfan-Diamond type EXACT Blackfan-Diamond anemia EXACT Congenital pure red cell aplasia EXACT Aase syndrome EXACT Aase-Smith II syndrome Bloom syndrome BS OMIM:210900 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123406 ; Name:Bloom syndrome gene ; Symbol:BLM ; xref: GENATLAS:BLM ; xref: HGNC:1058 ; xref: OMIM:604610 ; xref: UNIPROTKB/SWISSPROT:P54132 ; xref: ENSEMBL:ENSG00000197299 ; xref: REACTOME:P54132] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 ICD10:Q87.1 BS Orphanet ID- 430 ICD10:Q99.8 EXACT BS Caffey disease Infantile Cortical Hyperostosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 Orphanet ID- 431 ICD10:M89.8 Infantile Cortical Hyperostosis prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] OMIM:114000 EXACT Infantile Cortical Hyperostosis Chronic mucocutaneous candidiasis CMC Chronic mucocutaneous candidosis OMIM:614162 OMIM:252250 Chronic mucocutaneous candidosis OMIM:114580 CMC OMIM:607644 Gene [OrphaNum:266117 ; Name:interleukin 17F ; Symbol:IL17F ; xref: ENSEMBL:ENSG00000112116 ; xref: HGNC:16404 ; xref: OMIM:606496 ; xref: GENATLAS:IL17F ; xref: UNIPROTKB/SWISSPROT:Q96PD4] Gene [OrphaNum:225286 ; Name:Caspase recruitment domain family, member 9 ; Symbol:CARD9 ; xref: ENSEMBL:ENSG00000187796 ; xref: REACTOME:Q9H257 ; xref: GENATLAS:CARD9 ; xref: HGNC:16391 ; xref: OMIM:607212 ; xref: UNIPROTKB/SWISSPROT:Q9H257] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 Gene [OrphaNum:159725 ; Name:Intercellular adhesion molecule 1 ; Symbol:ICAM1 ; xref: GENATLAS:ICAM ; xref: HGNC:5344 ; xref: OMIM:147840 ; xref: UNIPROTKB/SWISSPROT:P05362 ; xref: ENSEMBL:ENSG00000090339 ; xref: REACTOME:P05362] Gene [OrphaNum:266109 ; Name:interleukin 17 receptor A ; Symbol:IL17RA ; xref: HGNC:5985 ; xref: ENSEMBL:ENSG00000177663 ; xref: GENATLAS:IL17RA ; xref: UNIPROTKB/SWISSPROT:Q96F46 ; xref: OMIM:605461] Gene [OrphaNum:119879 ; Name:Signal transducer and activator of transcription 1, 91kDa ; Symbol:STAT1 ; xref: GENATLAS:STAT1 ; xref: HGNC:11362 ; xref: OMIM:600555 ; xref: UNIPROTKB/SWISSPROT:P42224 ; xref: ENSEMBL:ENSG00000115415 ; xref: REACTOME:P42224] OMIM:212050 OMIM:613953 Orphanet ID- 432 OMIM:613956 ICD10:B37.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; OMIM:613108 Gene [OrphaNum:225288 ; Name:C-type lectin domain family 7, member A ; Symbol:CLEC7A ; xref: ENSEMBL:ENSG00000172243 ; xref: GENATLAS:CLEC7A ; xref: HGNC:14558 ; xref: OMIM:606264 ; xref: UNIPROTKB/SWISSPROT:Q9BXN2] OMIM:247650 EXACT CMC EXACT Chronic mucocutaneous candidosis Cataract - cardiomyopathy Sengers syndrome Sengers syndrome Gene [OrphaNum:118807 ; Name:Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 ; Symbol:SLC25A4 ; xref: GENATLAS:SLC25A4 ; xref: HGNC:10990 ; xref: OMIM:103220 ; xref: UNIPROTKB/SWISSPROT:P12235 ; xref: ENSEMBL:ENSG00000151729 ; xref: REACTOME:P12235] ICD10:Q87.8 Orphanet ID- 433 Gene [OrphaNum:286552 ; Name:Acylglycerol kinase ; Symbol:AGK ; xref: HGNC:21869 ; xref: OMIM:610345 ; xref: GENATLAS:AGK ; xref: UNIPROTKB/SWISSPROT:Q53H12 ; xref: ENSEMBL:ENSG00000006530] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 OMIM:212350 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Sengers syndrome Charlie M syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; Orphanet ID- 435 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 Cholestasis - lymphedema Aagenaes syndrome Orphanet ID- 437 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 Aagenaes syndrome OMIM:214900 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:K83.1 ICD10:Q82.0 EXACT Aagenaes syndrome Turner syndrome 45,X syndrome 45,X/46,XX syndrome prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; Orphanet ID- 44 ICD10:Q96 45,X/46,XX syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 45,X syndrome EXACT 45,X syndrome EXACT 45,X/46,XX syndrome Ring chromosome 18 ICD10:Q93.2 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Orphanet ID- 442 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442 Cleidocranial dysplasia Cleidocranial dysostosis Orphanet ID- 443 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 ICD10:Q74.0 OMIM:119600 Gene [OrphaNum:118429 ; Name:Runt-related transcription factor 2 ; Symbol:RUNX2 ; xref: ENSEMBL:ENSG00000124813 ; xref: GENATLAS:RUNX2 ; xref: HGNC:10472 ; xref: OMIM:600211 ; xref: UNIPROTKB/SWISSPROT:Q13950 ; xref: REACTOME:Q13950] Cleidocranial dysostosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:216330 EXACT Cleidocranial dysostosis Cohen syndrome Gene [OrphaNum:120476 ; Name:Vacuolar protein sorting 13 homolog B (yeast) ; Symbol:VPS13B ; xref: ENSEMBL:ENSG00000132549 ; xref: GENATLAS:VPS13B ; xref: HGNC:2183 ; xref: OMIM:607817 ; xref: UNIPROTKB/SWISSPROT:Q7Z7G8] OMIM:216550 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 Orphanet ID- 445 ICD10:Q87.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Cooper-Jabs syndrome Aural atresia - multiple congenital anomalies - intellectual deficit prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 OMIM:209770 Aural atresia - multiple congenital anomalies - intellectual deficit ICD10:Q89.7 Orphanet ID- 446 EXACT Aural atresia - multiple congenital anomalies - intellectual deficit Corpus callosum agenesis - neuronopathy Andermann syndrome Charlevoix disease Andermann syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 Gene [OrphaNum:118742 ; Name:Solute carrier family 12 (potassium/chloride transporters), member 6 ; Symbol:SLC12A6 ; xref: GENATLAS:SLC12A6 ; xref: HGNC:10914 ; xref: OMIM:604878 ; xref: UNIPROTKB/SWISSPROT:Q9UHW9 ; xref: ENSEMBL:ENSG00000140199 ; xref: REACTOME:Q9UHW9] Charlevoix disease Orphanet ID- 448 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:218000 ICD10:G60.0 EXACT Charlevoix disease EXACT Andermann syndrome Friedreich ataxia ICD10:G11.1 Gene [OrphaNum:121965 ; Name:Frataxin ; Symbol:FXN ; xref: GENATLAS:FXN ; xref: HGNC:3951 ; xref: OMIM:606829 ; xref: UNIPROTKB/SWISSPROT:Q16595 ; xref: ENSEMBL:ENSG00000165060 ; xref: REACTOME:Q16595] OMIM:601992 Orphanet ID- 45 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal recessive; OMIM:229300 Craniosynostosis - Dandy-Walker - hydrocephalus Braddock-Jones-Superneau syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 ICD10:Q75.0 OMIM:123155 Orphanet ID- 450 ICD10:Q03.1 Braddock-Jones-Superneau syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; EXACT Braddock-Jones-Superneau syndrome Best disease Vitelliform macular dystrophy Gene [OrphaNum:119029 ; Name:Bestrophin 1 ; Symbol:BEST1 ; xref: OMIM:607854 ; xref: UNIPROTKB/SWISSPROT:O76090 ; xref: GENATLAS:BEST1 ; xref: HGNC:12703 ; xref: ENSEMBL:ENSG00000167995] Vitelliform macular dystrophy OMIM:153700 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 Orphanet ID- 4510 ICD10:H35.5 EXACT Vitelliform macular dystrophy Congenital factor XI deficiency Hemophilia C PTA deficiency Plasma thromboplastin antecedent deficiency Rosenthal factor deficiency Rosenthal syndrome Orphanet ID- 4511 Rosenthal factor deficiency ICD10:D68.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 Gene [OrphaNum:121660 ; Name:Coagulation factor XI (plasma thromboplastin antecedent) ; Symbol:F11 ; xref: GENATLAS:F11 ; xref: HGNC:3529 ; xref: OMIM:264900 ; xref: UNIPROTKB/SWISSPROT:P03951 ; xref: ENSEMBL:ENSG00000088926 ; xref: REACTOME:P03951] Rosenthal syndrome PTA deficiency Plasma thromboplastin antecedent deficiency Hemophilia C OMIM:612416 EXACT PTA deficiency EXACT Plasma thromboplastin antecedent deficiency EXACT Rosenthal syndrome EXACT Hemophilia C EXACT Rosenthal factor deficiency Isolated Dandy-Walker malformation Orphanet ID- 456 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; OMIM:220200 Gene [OrphaNum:120618 ; Name:Zic family member 4 ; Symbol:ZIC4 ; xref: ENSEMBL:ENSG00000174963 ; xref: GENATLAS:ZIC4 ; xref: HGNC:20393 ; xref: OMIM:608948 ; xref: UNIPROTKB/SWISSPROT:Q8N9L1] ICD10:Q03.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 Gene [OrphaNum:120606 ; Name:Zic family member 1 (odd-paired homolog, Drosophila) ; Symbol:ZIC1 ; xref: ENSEMBL:ENSG00000152977 ; xref: GENATLAS:ZIC1 ; xref: HGNC:12872 ; xref: OMIM:600470 ; xref: UNIPROTKB/SWISSPROT:Q15915] Dihydropteridine reductase deficiency Hyperphenylalaninemia due to dihydropteridine reductase deficiency PKU type 2 Phenylketonuria type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 Gene [OrphaNum:118184 ; Name:Quinoid dihydropteridine reductase ; Symbol:QDPR ; xref: GENATLAS:QDPR ; xref: HGNC:9752 ; xref: UNIPROTKB/SWISSPROT:P09417 ; xref: OMIM:612676 ; xref: REACTOME:P09417 ; xref: ENSEMBL:ENSG00000151552] Phenylketonuria type 2 OMIM:261630 ICD10:E70.1 Orphanet ID- 457 Hyperphenylalaninemia due to dihydropteridine reductase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; PKU type 2 EXACT Phenylketonuria type 2 EXACT Hyperphenylalaninemia due to dihydropteridine reductase deficiency EXACT PKU type 2 Adenosine monophosphate deaminase deficiency AMP deaminase deficiency Myoadenylate deaminase deficiency Gene [OrphaNum:121350 ; Name:Adenosine monophosphate deaminase (isoform E) ; Symbol:AMPD3 ; xref: GENATLAS:AMPD3 ; xref: HGNC:470 ; xref: OMIM:102772 ; xref: UNIPROTKB/SWISSPROT:Q01432 ; xref: ENSEMBL:ENSG00000133805 ; xref: REACTOME:Q01432] ICD10:E79.8 AMP deaminase deficiency OMIM:102770 Orphanet ID- 458 OMIM:612874 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:121344 ; Name:Adenosine monophosphate deaminase 1 (isoform M) ; Symbol:AMPD1 ; xref: GENATLAS:AMPD1 ; xref: HGNC:468 ; xref: OMIM:102770 ; xref: UNIPROTKB/SWISSPROT:P23109 ; xref: REACTOME:P23109 ; xref: ENSEMBL:ENSG00000116748] Myoadenylate deaminase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 ICD10:M79.1 EXACT Myoadenylate deaminase deficiency EXACT AMP deaminase deficiency Argininosuccinic aciduria Argininosuccinase deficiency ICD10:E72.2 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 459 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 Argininosuccinase deficiency Gene [OrphaNum:121455 ; Name:Argininosuccinate lyase ; Symbol:ASL ; xref: ENSEMBL:ENSG00000126522 ; xref: GENATLAS:ASL ; xref: HGNC:746 ; xref: OMIM:608310 ; xref: UNIPROTKB/SWISSPROT:P04424 ; xref: REACTOME:P04424] OMIM:207900 EXACT Argininosuccinase deficiency Carbamoylphosphate synthetase deficiency CPS1 deficiency Carbamoyl phosphate synthetase 1 deficiency CPS1 deficiency Orphanet ID- 461 Carbamoyl phosphate synthetase 1 deficiency OMIM:237300 Gene [OrphaNum:120788 ; Name:Carbamoyl-phosphate synthetase 1, mitochondrial ; Symbol:CPS1 ; xref: ENSEMBL:ENSG00000021826 ; xref: GENATLAS:CPS1 ; xref: HGNC:2323 ; xref: OMIM:608307 ; xref: UNIPROTKB/SWISSPROT:P31327 ; xref: REACTOME:P31327] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 ICD10:E72.2 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Carbamoyl phosphate synthetase 1 deficiency EXACT CPS1 deficiency Multiple carboxylase deficiency ICD10:E53.8 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 Orphanet ID- 462 Glycerol kinase deficiency Hyperglycerolemia Orphanet ID- 463 ICD10:E74.8 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:307030 Hyperglycerolemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 EXACT Hyperglycerolemia Homocystinuria due to methylenetetrahydrofolate reductase deficiency MTHFR deficiency Methylenetetrahydrofolate reductase deficiency Methylenetetrahydrofolate reductase deficiency Orphanet ID- 465 MTHFR deficiency Gene [OrphaNum:123529 ; Name:5,10-methylenetetrahydrofolate reductase (NADPH) ; Symbol:MTHFR ; xref: REACTOME:P42898 ; xref: GENATLAS:MTHFR ; xref: HGNC:7436 ; xref: OMIM:607093 ; xref: UNIPROTKB/SWISSPROT:P42898 ; xref: ENSEMBL:ENSG00000177000] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E72.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 OMIM:236250 EXACT MTHFR deficiency EXACT Methylenetetrahydrofolate reductase deficiency Pyruvate dehydrogenase deficiency PDH PDHC Pyruvate dehydrogenase complex deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked dominant; Orphanet ID- 467 PDHC Pyruvate dehydrogenase complex deficiency ICD10:E74.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 PDH EXACT Pyruvate dehydrogenase complex deficiency EXACT PDH EXACT PDHC Encephalopathy due to sulfite oxidase deficiency Combined deficiency of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase ISOD Sulfocystinuria Sulphite oxidase deficiency due to molybdenum cofactor deficiency Orphanet ID- 468 Sulfocystinuria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 OMIM:272300 ICD10:E72.1 Combined deficiency of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; OMIM:252150 ISOD Sulphite oxidase deficiency due to molybdenum cofactor deficiency EXACT ISOD EXACT Sulfocystinuria EXACT Sulphite oxidase deficiency due to molybdenum cofactor deficiency EXACT Combined deficiency of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase Dubowitz syndrome Gene [OrphaNum:302903 ; Name:NOP2/Sun RNA methyltransferase family, member 2 ; Symbol:NSUN2 ; xref: HGNC:25994 ; xref: OMIM:610916 ; xref: GENATLAS:NSUN2 ; xref: UNIPROTKB/SWISSPROT:Q08J23] Orphanet ID- 472 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:223370 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 ICD10:Q87.1 Dyggve-Melchior-Clausen disease Gene [OrphaNum:121241 ; Name:Dymeclin ; Symbol:DYM ; xref: ENSEMBL:ENSG00000141627 ; xref: GENATLAS:DYM ; xref: HGNC:21317 ; xref: OMIM:607461 ; xref: UNIPROTKB/SWISSPROT:Q7RTS9] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 OMIM:304950 OMIM:223800 Orphanet ID- 473 ICD10:Q77.7 Familial dysautonomia HSAN 3 Hereditary sensory and autonomic neuropathy type 3 Riley-Day syndrome Orphanet ID- 474 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 Hereditary sensory and autonomic neuropathy type 3 ICD10:G90.1 HSAN 3 OMIM:223900 Riley-Day syndrome Gene [OrphaNum:122607 ; Name:Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein ; Symbol:IKBKAP ; xref: ENSEMBL:ENSG00000070061 ; xref: GENATLAS:IKBKAP ; xref: HGNC:5959 ; xref: OMIM:603722 ; xref: UNIPROTKB/SWISSPROT:O95163] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Riley-Day syndrome EXACT Hereditary sensory and autonomic neuropathy type 3 EXACT HSAN 3 Gonadal dysgenesis, XY type - associated anomalies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 Orphanet ID- 476 ICD10:Q99.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:121069 ; Name:Desert hedgehog homolog (Drosophila) ; Symbol:DHH ; xref: GENATLAS:DHH ; xref: HGNC:2865 ; xref: OMIM:605423 ; xref: UNIPROTKB/SWISSPROT:O43323 ; xref: REACTOME:O43323 ; xref: ENSEMBL:ENSG00000139549] OMIM:233430 Dyskeratosis congenita DKC Zinsser-Engman-Cole syndrome Gene [OrphaNum:205594 ; Name:NHP2 ribonucleoprotein homolog (yeast) ; Symbol:NHP2 ; xref: ENSEMBL:ENSG00000145912 ; xref: REACTOME:Q9NX24 ; xref: OMIM:606470 ; xref: GENATLAS:NHP2 ; xref: HGNC:14377 ; xref: UNIPROTKB/SWISSPROT:Q9NX24] OMIM:613990 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 ICD10:Q82.8 OMIM:127550 Gene [OrphaNum:121091 ; Name:Dyskeratosis congenita 1, dyskerin ; Symbol:DKC1 ; xref: GENATLAS:DKC1 ; xref: HGNC:2890 ; xref: OMIM:300126 ; xref: UNIPROTKB/SWISSPROT:O60832 ; xref: ENSEMBL:ENSG00000130826 ; xref: REACTOME:O60832] Gene [OrphaNum:159137 ; Name:NOP10 ribonucleoprotein homolog (yeast) ; Symbol:NOP10 ; xref: ENSEMBL:ENSG00000182117 ; xref: GENATLAS:NOP10 ; xref: HGNC:14378 ; xref: OMIM:606471 ; xref: UNIPROTKB/SWISSPROT:Q9NPE3] Zinsser-Engman-Cole syndrome OMIM:613989 OMIM:613988 DKC Orphanet ID- 477 Gene [OrphaNum:266162 ; Name:WD repeat containing, antisense to TP53 ; Symbol:WRAP53 ; xref: ENSEMBL:ENSG00000141499 ; xref: HGNC:25522 ; xref: OMIM:612661 ; xref: GENATLAS:WRAP53 ; xref: GENATLAS:Q9BUR4] OMIM:224230 OMIM:613987 Gene [OrphaNum:225243 ; Name:Chromosome 16 open reading frame 57 ; Symbol:C16ORF57 ; xref: GENATLAS:HVSL1 ; xref: HGNC:25792 ; xref: OMIM:613276 ; xref: UNIPROTKB/SWISSPROT:Q9BQ65 ; xref: ENSEMBL:ENSG00000103005] Gene [OrphaNum:138457 ; Name:Telomerase RNA component ; Symbol:TERC ; xref: ENSEMBL:ENSG00000200182 ; xref: GENATLAS:TERC ; xref: HGNC:11727 ; xref: OMIM:602322] Gene [OrphaNum:140050 ; Name:TERF1 (TRF1)-interacting nuclear factor 2 ; Symbol:TINF2 ; xref: REACTOME:Q9BSI4 ; xref: GENATLAS:TINF2 ; xref: HGNC:11824 ; xref: OMIM:604319 ; xref: UNIPROTKB/SWISSPROT:Q9BSI4 ; xref: ENSEMBL:ENSG00000092330] OMIM:305000 Gene [OrphaNum:138451 ; Name:Telomerase reverse transcriptase ; Symbol:TERT ; xref: REACTOME:O14746 ; xref: GENATLAS:TERT ; xref: HGNC:11730 ; xref: OMIM:187270 ; xref: UNIPROTKB/SWISSPROT:O14746 ; xref: ENSEMBL:ENSG00000164362] EXACT DKC EXACT Zinsser-Engman-Cole syndrome Postaxial acrofacial dysostosis Acrofacial dysostosis, Genee-Wiedmann type Mandibulfacial dysostosis with postaxial limb anomalies Miller syndrome POADS Postaxial acrodysostosis Orphanet ID- 478 Postaxial acrodysostosis Gene [OrphaNum:225386 ; Name:Dihydroorotate dehydrogenase ; Symbol:DHODH ; xref: REACTOME:Q02127 ; xref: ENSEMBL:ENSG00000102967 ; xref: GENATLAS:DHODH ; xref: HGNC:2867 ; xref: OMIM:126064 ; xref: UNIPROTKB/SWISSPROT:Q02127] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Miller syndrome ICD10:Q75.4 OMIM:263750 POADS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 Acrofacial dysostosis, Genee-Wiedmann type Mandibulfacial dysostosis with postaxial limb anomalies EXACT Postaxial acrodysostosis EXACT Mandibulfacial dysostosis with postaxial limb anomalies EXACT Miller syndrome EXACT Acrofacial dysostosis, Genee-Wiedmann type EXACT POADS Multicystic renal dysplasia Orphanet ID- 481 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 OMIM:143400 ICD10:Q61.4 OMIM:601331 Dopa-responsive dystonia DYT5 Segawa syndrome OMIM:128230 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Segawa syndrome ICD10:G24.8 Orphanet ID- 484 OMIM:605407 DYT5 EXACT DYT5 EXACT Segawa syndrome Ectopia lentis syndrome Familial ectopia lentis Isolated ectopia lentis Orphanet ID- 486 OMIM:225200 OMIM:129600 Isolated ectopia lentis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:225100 Familial ectopia lentis Gene [OrphaNum:178791 ; Name:ADAMTS-like 4 ; Symbol:ADAMTSL4 ; xref: UNIPROTKB/SWISSPROT:Q6UY14 ; xref: ENSEMBL:ENSG00000143382 ; xref: GENATLAS:ADAMTSL4 ; xref: HGNC:19706 ; xref: OMIM:610113] ICD10:Q12.1 Gene [OrphaNum:121752 ; Name:Fibrillin 1 ; Symbol:FBN1 ; xref: GENATLAS:FBN1 ; xref: HGNC:3603 ; xref: OMIM:134797 ; xref: UNIPROTKB/SWISSPROT:P35555 ; xref: REACTOME:P35555 ; xref: ENSEMBL:ENSG00000166147] EXACT Familial ectopia lentis EXACT Isolated ectopia lentis Fetal alcohol syndrome Alcohol antenatal infection ICD10:Q86.0 Alcohol antenatal infection prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 Orphanet ID- 487 EXACT Alcohol antenatal infection Fetal parvovirus syndrome Parvovirus antenatal infection Parvovirus antenatal infection Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 Orphanet ID- 488 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:P00.2 ICD10:B97.6 EXACT Parvovirus antenatal infection Frontal encephalocele Anterior encephalocele Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q01.0 Orphanet ID- 489 Anterior encephalocele EXACT Anterior encephalocele Cystic fibrosis CF Mucoviscidosis true OMIM:219700 CF Orphanet ID- 49 ICD10:E84 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; Mucoviscidosis Gene [OrphaNum:119382 ; Name:Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) ; Symbol:CFTR ; xref: ENSEMBL:ENSG00000001626 ; xref: REACTOME:P13569 ; xref: GENATLAS:CFTR ; xref: HGNC:1884 ; xref: OMIM:602421 ; xref: UNIPROTKB/SWISSPROT:P13569] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 EXACT Mucoviscidosis EXACT CF Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Booth-Haworth-Dilling syndrome Mitochondrial encephalomyopathy - aminoacidopathy mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondrial encephalomyopathy - aminoacidopathy OMIM:612073 Booth-Haworth-Dilling syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Mitochondrial inheritance; Gene [OrphaNum:119894 ; Name:Succinate-CoA ligase, ADP-forming, beta subunit ; Symbol:SUCLA2 ; xref: GENATLAS:SUCLA2 ; xref: HGNC:11448 ; xref: OMIM:603921 ; xref: UNIPROTKB/SWISSPROT:Q9P2R7 ; xref: ENSEMBL:ENSG00000136143 ; xref: REACTOME:Q9P2R7] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 Orphanet ID- 491 EXACT Booth-Haworth-Dilling syndrome EXACT mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria EXACT Mitochondrial encephalomyopathy - aminoacidopathy Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia Novak syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2005 Novak syndrome Orphanet ID- 492 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Novak syndrome Congenital fiber-type disproportion myopathy CFTDM prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Gene [OrphaNum:118596 ; Name:Selenoprotein N, 1 ; Symbol:SEPN1 ; xref: GENATLAS:SEPN1 ; xref: HGNC:15999 ; xref: OMIM:606210 ; xref: UNIPROTKB/SWISSPROT:Q9NZV5 ; xref: ENSEMBL:ENSG00000162430] Gene [OrphaNum:117750 ; Name:Actin, alpha 1, skeletal muscle ; Symbol:ACTA1 ; xref: GENATLAS:ACTA1 ; xref: HGNC:129 ; xref: OMIM:102610 ; xref: UNIPROTKB/SWISSPROT:P68133 ; xref: ENSEMBL:ENSG00000143632 ; xref: REACTOME:P68133] ICD10:G71.2 Gene [OrphaNum:120227 ; Name:Tropomyosin 3 ; Symbol:TPM3 ; xref: GENATLAS:TPM3 ; xref: HGNC:12012 ; xref: OMIM:191030 ; xref: UNIPROTKB/SWISSPROT:P06753 ; xref: REACTOME:P06753 ; xref: ENSEMBL:ENSG00000143549] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 OMIM:255310 OMIM:300580 Orphanet ID- 493 CFTDM EXACT CFTDM Freeman-Sheldon syndrome Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Distal arthrogryposis type 2A Whistling face syndrome Distal arthrogryposis type 2A Orphanet ID- 494 Whistling face syndrome OMIM:277720 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 OMIM:193700 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:123617 ; Name:Myosin, heavy chain 3, skeletal muscle, embryonic ; Symbol:MYH3 ; xref: GENATLAS:MYH3 ; xref: HGNC:7573 ; xref: OMIM:160720 ; xref: UNIPROTKB/SWISSPROT:P11055 ; xref: ENSEMBL:ENSG00000109063 ; xref: REACTOME:P11055] ICD10:Q87.0 Craniocarpotarsal dystrophy Craniocarpotarsal dysplasia EXACT Craniocarpotarsal dystrophy EXACT Craniocarpotarsal dysplasia EXACT Whistling face syndrome EXACT Distal arthrogryposis type 2A Galactosialidosis Goldberg syndrome Neuraminidase deficiency with beta-galactosidase deficiency Orphanet ID- 498 Goldberg syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 Gene [OrphaNum:120888 ; Name:Cathepsin A ; Symbol:CTSA ; xref: GENATLAS:CTSA ; xref: HGNC:9251 ; xref: UNIPROTKB/SWISSPROT:P10619 ; xref: OMIM:613111 ; xref: ENSEMBL:ENSG00000064601 ; xref: REACTOME:P10619] OMIM:256540 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Neuraminidase deficiency with beta-galactosidase deficiency ICD10:E77.1 EXACT Goldberg syndrome EXACT Neuraminidase deficiency with beta-galactosidase deficiency Goldenhar syndrome Craniofacial microsomia Facioauriculovertebral dysplasia OAV dysplasia Oculoauriculovertebral dysplasia Oculoauriculovertebral dysplasia prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q87.0 Facioauriculovertebral dysplasia OMIM:164210 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=374 Craniofacial microsomia OAV dysplasia Orphanet ID- 499 EXACT Facioauriculovertebral dysplasia EXACT Craniofacial microsomia EXACT OAV dysplasia EXACT Oculoauriculovertebral dysplasia Aspartylglucosaminuria Aspartylglucosaminidase deficiency Orphanet ID- 5 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E77.1 Aspartylglucosaminidase deficiency Gene [OrphaNum:119513 ; Name:Aspartylglucosaminidase ; Symbol:AGA ; xref: ENSEMBL:ENSG00000038002 ; xref: GENATLAS:AGA ; xref: HGNC:318 ; xref: OMIM:613228 ; xref: UNIPROTKB/SWISSPROT:P20933] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 OMIM:208400 EXACT Aspartylglucosaminidase deficiency Alpha-thalassemia Orphanet ID- 50 ICD10:D56.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; OMIM:604131 Isolated spina bifida Orphanet ID- 5013 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Gene [OrphaNum:119908 ; Name:T, brachyury homolog (mouse) ; Symbol:T ; xref: GENATLAS:T ; xref: HGNC:11515 ; xref: OMIM:601397 ; xref: UNIPROTKB/SWISSPROT:O15178 ; xref: ENSEMBL:ENSG00000164458] ICD10:Q05 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823 OMIM:182940 Isolated anencephaly/exencephaly ICD10:Q00.0 OMIM:206500 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 Orphanet ID- 5014 Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Gene [OrphaNum:169415 ; Name:Transmembrane protein 70 ; Symbol:TMEM70 ; xref: GENATLAS:TMEM70 ; xref: HGNC:26050 ; xref: OMIM:612418 ; xref: UNIPROTKB/SWISSPROT:Q9BUB7 ; xref: ENSEMBL:ENSG00000175606] Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency Orphanet ID- 5015 OMIM:604273 Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency ICD10:G71.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 EXACT Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency EXACT Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency EXACT Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency Infantile Refsum disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Gene [OrphaNum:124191 ; Name:Peroxisome biogenesis factor 10 ; Symbol:PEX10 ; xref: GENATLAS:PEX10 ; xref: HGNC:8851 ; xref: OMIM:602859 ; xref: UNIPROTKB/SWISSPROT:O60683 ; xref: ENSEMBL:ENSG00000157911] Gene [OrphaNum:124200 ; Name:Peroxisomal biogenesis factor 16 ; Symbol:PEX16 ; xref: GENATLAS:PEX16 ; xref: HGNC:8857 ; xref: OMIM:603360 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y5 ; xref: ENSEMBL:ENSG00000121680] OMIM:266510 Gene [OrphaNum:124198 ; Name:Peroxisomal biogenesis factor 14 ; Symbol:PEX14 ; xref: GENATLAS:PEX14 ; xref: HGNC:8856 ; xref: OMIM:601791 ; xref: UNIPROTKB/SWISSPROT:O75381 ; xref: ENSEMBL:ENSG00000142655] Gene [OrphaNum:124209 ; Name:Peroxisomal biogenesis factor 3 ; Symbol:PEX3 ; xref: GENATLAS:PEX3 ; xref: HGNC:8858 ; xref: OMIM:603164 ; xref: UNIPROTKB/SWISSPROT:P56589 ; xref: REACTOME:P56589 ; xref: ENSEMBL:ENSG00000034693] Gene [OrphaNum:124194 ; Name:Peroxisomal biogenesis factor 12 ; Symbol:PEX12 ; xref: ENSEMBL:ENSG00000108733 ; xref: GENATLAS:PEX12 ; xref: HGNC:8854 ; xref: OMIM:601758 ; xref: UNIPROTKB/SWISSPROT:O00623] Orphanet ID- 5016 Gene [OrphaNum:124196 ; Name:Peroxisome biogenesis factor 13 ; Symbol:PEX13 ; xref: GENATLAS:PEX13 ; xref: HGNC:8855 ; xref: OMIM:601789 ; xref: UNIPROTKB/SWISSPROT:Q92968 ; xref: ENSEMBL:ENSG00000162928] Gene [OrphaNum:124206 ; Name:Peroxisome biogenesis factor 26 ; Symbol:PEX26 ; xref: GENATLAS:PEX26 ; xref: HGNC:22965 ; xref: OMIM:608666 ; xref: UNIPROTKB/SWISSPROT:Q7Z412 ; xref: ENSEMBL:ENSG00000215193] Gene [OrphaNum:124202 ; Name:Peroxisomal biogenesis factor 19 ; Symbol:PEX19 ; xref: GENATLAS:PEX19 ; xref: HGNC:9713 ; xref: OMIM:600279 ; xref: UNIPROTKB/SWISSPROT:P40855 ; xref: ENSEMBL:ENSG00000162735 ; xref: REACTOME:P40855] Gene [OrphaNum:118174 ; Name:Peroxisomal biogenesis factor 2 ; Symbol:PEX2 ; xref: GENATLAS:PXMP3 ; xref: HGNC:9717 ; xref: OMIM:170993 ; xref: UNIPROTKB/SWISSPROT:P28328 ; xref: ENSEMBL:ENSG00000164751] Gene [OrphaNum:124189 ; Name:Peroxisome biogenesis factor 1 ; Symbol:PEX1 ; xref: GENATLAS:PEX1 ; xref: HGNC:8850 ; xref: OMIM:602136 ; xref: UNIPROTKB/SWISSPROT:O43933 ; xref: ENSEMBL:ENSG00000127980] Gene [OrphaNum:124211 ; Name:Peroxisomal biogenesis factor 5 ; Symbol:PEX5 ; xref: GENATLAS:PEX5 ; xref: HGNC:9719 ; xref: OMIM:600414 ; xref: UNIPROTKB/SWISSPROT:P50542 ; xref: ENSEMBL:ENSG00000139197] ICD10:G60.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Young adult; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Gene [OrphaNum:124215 ; Name:Peroxisomal biogenesis factor 6 ; Symbol:PEX6 ; xref: GENATLAS:PEX6 ; xref: HGNC:8859 ; xref: OMIM:601498 ; xref: UNIPROTKB/SWISSPROT:Q13608 ; xref: ENSEMBL:ENSG00000124587] Hartnup syndrome Aminoaciduria, Hartnup type Hartnup disorder ICD10:E72.0 Hartnup disorder Gene [OrphaNum:119703 ; Name:Solute carrier family 6 (neutral amino acid transporter), member 19 ; Symbol:SLC6A19 ; xref: GENATLAS:SLC6A19 ; xref: HGNC:27960 ; xref: OMIM:608893 ; xref: UNIPROTKB/SWISSPROT:Q695T7 ; xref: ENSEMBL:ENSG00000174358 ; xref: REACTOME:Q695T7] Orphanet ID- 502 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 Aminoaciduria, Hartnup type OMIM:234500 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; EXACT Aminoaciduria, Hartnup type EXACT Hartnup disorder Hawkinsinuria 4-HPPD deficiency 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency ICD10:E70.2 Orphanet ID- 503 4-hydroxyphenylpyruvic acid dioxygenase deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-HPPD deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 Gene [OrphaNum:122470 ; Name:4-hydroxyphenylpyruvate dioxygenase ; Symbol:HPD ; xref: GENATLAS:HPD ; xref: HGNC:5147 ; xref: OMIM:609695 ; xref: UNIPROTKB/SWISSPROT:P32754 ; xref: REACTOME:P32754 ; xref: ENSEMBL:ENSG00000158104] OMIM:140350 EXACT 4-hydroxyphenylpyruvic acid dioxygenase deficiency EXACT 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency EXACT 4-HPPD deficiency Neonatal hemochromatosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 504 ICD10:E83.1 OMIM:231100 Hennekam-Beemer syndrome Mastocytosis - short stature - hearing loss OMIM:248910 ICD10:Q87.0 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 505 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 Mastocytosis - short stature - hearing loss EXACT Mastocytosis - short stature - hearing loss Neonatal severe primary hyperparathyroidism prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 Gene [OrphaNum:119185 ; Name:Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) ; Symbol:CASR ; xref: GENATLAS:CASR ; xref: HGNC:1514 ; xref: OMIM:601199 ; xref: UNIPROTKB/SWISSPROT:P41180 ; xref: ENSEMBL:ENSG00000036828 ; xref: IUPHAR:54 ; xref: REACTOME:P41180] OMIM:239200 Orphanet ID- 508 ICD10:E21.0 Beta-thalassemia ICD10:D56.1 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 Orphanet ID- 51 OMIM:613985 Hypogonadism - mitral valve prolapse - intellectual deficit Cantalamessa-Baldini-Ambrosi syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Orphanet ID- 510 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 Cantalamessa-Baldini-Ambrosi syndrome EXACT Cantalamessa-Baldini-Ambrosi syndrome Foveal hypoplasia - presenile cataract O Donnell-Pappas syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 OMIM:136520 Orphanet ID- 512 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; O Donnell-Pappas syndrome Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] ICD10:H26.0 EXACT O Donnell-Pappas syndrome Ichthyosis congenita - biliary atresia ICD10:Q87.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2270 OMIM:242400 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Unknown; Orphanet ID- 513 Multiple intestinal atresia Familial intestinal polyatresia syndrome ICD10:Q43.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300 OMIM:243150 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 515 Familial intestinal polyatresia syndrome EXACT Familial intestinal polyatresia syndrome Congenital short bowel Gene [OrphaNum:293034 ; Name:CXADR-like membrane protein ; Symbol:CLMP ; xref: GENATLAS:ASAM ; xref: HGNC:24039 ; xref: OMIM:611693 ; xref: UNIPROTKB/SWISSPROT:Q9H6B4] Orphanet ID- 516 ICD10:Q41.9 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Fructose intolerance Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia Orphanet ID- 517 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Hereditary fructose-1-phosphate aldolase deficiency OMIM:229600 ICD10:E74.1 Gene [OrphaNum:119601 ; Name:Aldolase B, fructose-bisphosphate ; Symbol:ALDOB ; xref: GENATLAS:ALDOB ; xref: HGNC:417 ; xref: UNIPROTKB/SWISSPROT:P05062 ; xref: OMIM:612724 ; xref: REACTOME:P05062 ; xref: ENSEMBL:ENSG00000136872] Hereditary fructosemia EXACT Hereditary fructosemia EXACT Hereditary fructose-1-phosphate aldolase deficiency Jacobsen syndrome DEL11q ter DEL11q23.3 Distal deletion 11q Distal monosomy 11q Monosomy 11qter Partial deletion 11q Telomeric deletion 11q prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q93.5 Distal deletion 11q Distal monosomy 11q Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 DEL11q ter Partial deletion 11q OMIM:147791 Telomeric deletion 11q DEL11q23.3 Monosomy 11qter Orphanet ID- 518 EXACT Telomeric deletion 11q EXACT DEL11q ter EXACT Distal deletion 11q EXACT Partial deletion 11q EXACT Distal monosomy 11q EXACT Monosomy 11qter EXACT DEL11q23.3 Joubert syndrome with oculorenal defect Arima syndrome CORS Cerebello-oculo-renal syndrome Dekaban-Arima syndrome JS type B JS-OR Joubert syndrome with Senior-Loken syndrome JS-OR ICD10:Q61.5 Cerebello-oculo-renal syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 Orphanet ID- 519 Gene [OrphaNum:286631 ; Name:Transmembrane protein 237 ; Symbol:TMEM237 ; xref: GENATLAS:TMEM237 ; xref: UNIPROTKB/SWISSPROT:Q96Q45 ; xref: HGNC:14432 ; xref: OMIM:614423 ; xref: ENSEMBL:ENSG00000155755] JS type B Gene [OrphaNum:292990 ; Name:Transmembrane protein 138 ; Symbol:TMEM138 ; xref: HGNC:26944 ; xref: OMIM:614459 ; xref: GENATLAS:TMEM138 ; xref: UNIPROTKB/SWISSPROT:Q9NPI0] Arima syndrome ICD10:H35.5 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:614424 OMIM:614465 CORS OMIM:243910 ICD10:Q04.3 Joubert syndrome with Senior-Loken syndrome Dekaban-Arima syndrome Gene [OrphaNum:159539 ; Name:Coiled-coil and C2 domain containing 2A ; Symbol:CC2D2A ; xref: GENATLAS:CC2D2A ; xref: HGNC:29253 ; xref: OMIM:612013 ; xref: UNIPROTKB/SWISSPROT:Q9P2K1 ; xref: ENSEMBL:ENSG00000048342] OMIM:610188 OMIM:608091 OMIM:612285 Gene [OrphaNum:119343 ; Name:Centrosomal protein 290kDa ; Symbol:CEP290 ; xref: GENATLAS:CEP290 ; xref: HGNC:29021 ; xref: OMIM:610142 ; xref: UNIPROTKB/SWISSPROT:O15078 ; xref: ENSEMBL:ENSG00000198707 ; xref: REACTOME:O15078] Gene [OrphaNum:221342 ; Name:Transmembrane protein 216 ; Symbol:TMEM216 ; xref: ENSEMBL:ENSG00000187049 ; xref: GENATLAS:TMEM216 ; xref: HGNC:25018 ; xref: OMIM:613277 ; xref: UNIPROTKB/SWISSPROT:Q9P0N5] EXACT Arima syndrome EXACT Joubert syndrome with Senior-Loken syndrome EXACT JS type B EXACT Dekaban-Arima syndrome EXACT Cerebello-oculo-renal syndrome EXACT JS-OR EXACT CORS KID syndrome KID/HID syndrome Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness Senter syndrome Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness KID/HID syndrome OMIM:242150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 Gene [OrphaNum:122129 ; Name:Gap junction protein, beta 2, 26kDa ; Symbol:GJB2 ; xref: GENATLAS:GJB2 ; xref: HGNC:4284 ; xref: OMIM:121011 ; xref: UNIPROTKB/SWISSPROT:P29033 ; xref: ENSEMBL:ENSG00000165474 ; xref: REACTOME:P29033] ICD10:Q80.8 Orphanet ID- 520 ICD10:H90.5 OMIM:148210 Gene [OrphaNum:122142 ; Name:Gap junction protein, beta 6 ; Symbol:GJB6 ; xref: GENATLAS:GJB6 ; xref: HGNC:4288 ; xref: OMIM:604418 ; xref: UNIPROTKB/SWISSPROT:O95452 ; xref: ENSEMBL:ENSG00000121742 ; xref: REACTOME:O95452] OMIM:602540 Senter syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness EXACT KID/HID syndrome EXACT Senter syndrome Isolated cloverleaf skull syndrome Kleeblattschaedel syndrome Gene [OrphaNum:121815 ; Name:Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) ; Symbol:FGFR3 ; xref: ENSEMBL:ENSG00000068078 ; xref: GENATLAS:FGFR3 ; xref: HGNC:3690 ; xref: OMIM:134934 ; xref: UNIPROTKB/SWISSPROT:P22607 ; xref: REACTOME:P22607] Orphanet ID- 521 ICD10:Q75.0 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic; OMIM:148800 Kleeblattschaedel syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2343 EXACT Kleeblattschaedel syndrome Angio-osteohypertrophic syndrome Klippel-Trenaunay-Weber syndrome Klippel-Trenaunay-Weber syndrome prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 OMIM:149000 ICD10:Q87.2 OMIM:608355 Orphanet ID- 523 EXACT Klippel-Trenaunay-Weber syndrome Langer-Giedion syndrome Deletion 8q24.1 Monosomy 8q24.1 Trichorhinophalangeal syndrome type 2 Trichorhinophalangeal syndrome type 2 Monosomy 8q24.1 ICD10:Q87.8 OMIM:150230 Gene [OrphaNum:120307 ; Name:Trichorhinophalangeal syndrome I ; Symbol:TRPS1 ; xref: GENATLAS:TRPS1 ; xref: HGNC:12340 ; xref: OMIM:604386 ; xref: UNIPROTKB/SWISSPROT:Q9UHF7 ; xref: ENSEMBL:ENSG00000104447] Orphanet ID- 526 Deletion 8q24.1 Gene [OrphaNum:121645 ; Name:Exostoses (multiple) 1 ; Symbol:EXT1 ; xref: GENATLAS:EXT1 ; xref: HGNC:3512 ; xref: OMIM:608177 ; xref: UNIPROTKB/SWISSPROT:Q16394 ; xref: ENSEMBL:ENSG00000182197] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Deletion 8q24.1 EXACT Monosomy 8q24.1 EXACT Trichorhinophalangeal syndrome type 2 Larsen-like osseous dysplasia - short stature Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 OMIM:608545 ICD10:Q77.8 Orphanet ID- 527 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Congenital laryngomalacia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 OMIM:150280 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q31.5 Orphanet ID- 529 Congenital laryngeal web prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q31.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 Orphanet ID- 530 OMIM:150360 Laurence-Moon syndrome ICD10:Q87.8 OMIM:245800 Orphanet ID- 531 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 Gene [OrphaNum:123245 ; Name:McKusick-Kaufman syndrome (Gen) ; Symbol:MKKS ; xref: GENATLAS:MKKS ; xref: HGNC:7108 ; xref: OMIM:604896 ; xref: UNIPROTKB/SWISSPROT:Q9NPJ1 ; xref: ENSEMBL:ENSG00000125863] Leigh syndrome Infantile subacute necrotizing encephalopathy Leigh disease OMIM:256000 OMIM:308930 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive; Orphanet ID- 532 Leigh disease Infantile subacute necrotizing encephalopathy ICD10:G31.8 OMIM:266150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 EXACT Leigh disease EXACT Infantile subacute necrotizing encephalopathy Congenital pulmonary lymphangiectasia Pulmonary lymphangiomatosis prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 Orphanet ID- 534 OMIM:265300 ICD10:Q33.8 Pulmonary lymphangiomatosis EXACT Pulmonary lymphangiomatosis Congenital macroglossia OMIM:153630 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q38.2 Orphanet ID- 535 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430 Central bilateral macrogyria prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 536 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2431 ICD10:Q04.8 Short rib-polydactyly syndrome ICD10:Q77.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; Orphanet ID- 537 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 ICD10:Q69.9 Congenital pulmonary airway malformation of the lung CCAM CCAM Orphanet ID- 538 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q33.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 EXACT CCAM Marshall syndrome Orphanet ID- 540 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:120690 ; Name:Collagen, type XI, alpha 1 ; Symbol:COL11A1 ; xref: GENATLAS:COL11A1 ; xref: HGNC:2186 ; xref: OMIM:120280 ; xref: UNIPROTKB/SWISSPROT:P12107 ; xref: ENSEMBL:ENSG00000060718] OMIM:154780 ICD10:Q87.0 MASA syndrome Gareis-Mason syndrome Intellectual deficit - aphasia - shuffling gait - adducted thumb SPG1 X-linked spastic paraplegia type 1 Gene [OrphaNum:122948 ; Name:L1 cell adhesion molecule ; Symbol:L1CAM ; xref: GENATLAS:L1CAM ; xref: HGNC:6470 ; xref: OMIM:308840 ; xref: UNIPROTKB/SWISSPROT:P32004 ; xref: ENSEMBL:ENSG00000198910 ; xref: REACTOME:P32004] Gareis-Mason syndrome OMIM:303350 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- X-linked recessive; Intellectual deficit - aphasia - shuffling gait - adducted thumb SPG1 Orphanet ID- 541 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 X-linked spastic paraplegia type 1 ICD10:G11.4 EXACT X-linked spastic paraplegia type 1 EXACT Intellectual deficit - aphasia - shuffling gait - adducted thumb EXACT SPG1 EXACT Gareis-Mason syndrome Moebius syndrome Congenital facial diplegia Möbius syndrome ICD10:Q87.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 Orphanet ID- 542 OMIM:218100 Congenital facial diplegia OMIM:157900 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Möbius syndrome EXACT Congenital facial diplegia EXACT Möbius syndrome Muir-Torre syndrome Multiple keratoacanthoma, Muir-Torre type prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:123487 ; Name:MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) ; Symbol:MSH2 ; xref: GENATLAS:MSH2 ; xref: HGNC:7325 ; xref: OMIM:609309 ; xref: UNIPROTKB/SWISSPROT:P43246 ; xref: ENSEMBL:ENSG00000095002] ICD10:D23.9 Multiple keratoacanthoma, Muir-Torre type Orphanet ID- 543 Gene [OrphaNum:123263 ; Name:MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) ; Symbol:MLH1 ; xref: GENATLAS:MLH1 ; xref: HGNC:7127 ; xref: OMIM:120436 ; xref: UNIPROTKB/SWISSPROT:P40692 ; xref: ENSEMBL:ENSG00000076242 ; xref: REACTOME:P40692] OMIM:158320 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=587 EXACT Multiple keratoacanthoma, Muir-Torre type Proximal myotonic myopathy Myotonic dystrophy type 2 Proximal myotonic dystrophy Ricker disease Ricker syndrome ICD10:G71.1 Ricker disease Myotonic dystrophy type 2 Orphanet ID- 545 Ricker syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; OMIM:602668 Gene [OrphaNum:120657 ; Name:CCHC-type zinc finger, nucleic acid binding protein ; Symbol:CNBP ; xref: ENSEMBL:ENSG00000169714 ; xref: GENATLAS:CNBP ; xref: HGNC:13164 ; xref: OMIM:116955 ; xref: UNIPROTKB/SWISSPROT:P62633] Proximal myotonic dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 EXACT Ricker syndrome EXACT Proximal myotonic dystrophy EXACT Myotonic dystrophy type 2 EXACT Ricker disease Metatropic dysplasia type 1 Metatropic dwarfism ICD10:Q77.8 Gene [OrphaNum:171081 ; Name:Transient receptor potential cation channel, subfamily V, member 4 ; Symbol:TRPV4 ; xref: GENATLAS:TRPV4 ; xref: HGNC:18083 ; xref: OMIM:605427 ; xref: UNIPROTKB/SWISSPROT:Q96Q92 ; xref: IUPHAR:510 ; xref: ENSEMBL:ENSG00000111199] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:156530 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 Metatropic dwarfism Orphanet ID- 546 EXACT Metatropic dwarfism Thanatophoric dysplasia Thanatophoric dwarfism Thanatophoric dwarfism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal dominant; Orphanet ID- 547 ICD10:Q77.1 EXACT Thanatophoric dwarfism Linear nevus sebaceus syndrome Nevus Sebaceus of Jadassohn Nevus sebaceus syndrome Schimmelpenning syndrome Solomon syndrome Orphanet ID- 549 Schimmelpenning syndrome Nevus Sebaceus of Jadassohn Solomon syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age; ICD10:Q85.8 OMIM:163200 Nevus sebaceus syndrome EXACT Nevus sebaceus syndrome EXACT Schimmelpenning syndrome EXACT Solomon syndrome EXACT Nevus Sebaceus of Jadassohn Duchenne and Becker muscular dystrophy Severe dystrophinopathy, Duchenne and Becker type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 OMIM:159050 OMIM:310200 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- X-linked recessive; ICD10:G71.0 Orphanet ID- 55 OMIM:300376 Severe dystrophinopathy, Duchenne and Becker type EXACT Severe dystrophinopathy, Duchenne and Becker type Horizontal gaze palsy with progressive scoliosis HGPPS Progressive external ophthalmoplegia and scoliosis OMIM:607313 Orphanet ID- 552 Progressive external ophthalmoplegia and scoliosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 HGPPS ICD10:H49.4 Gene [OrphaNum:118352 ; Name:Roundabout, axon guidance receptor, homolog 3 (Drosophila) ; Symbol:ROBO3 ; xref: GENATLAS:ROBO3 ; xref: HGNC:13433 ; xref: OMIM:608630 ; xref: UNIPROTKB/SWISSPROT:Q96MS0 ; xref: ENSEMBL:ENSG00000154134 ; xref: REACTOME:Q96MS0] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT HGPPS EXACT Progressive external ophthalmoplegia and scoliosis Pyruvate dehydrogenase E3 deficiency DLD deficiency Dihydrolipoamide dehydrogenase deficiency E3-deficient maple syrup urine disease OMIM:248600 Dihydrolipoamide dehydrogenase deficiency DLD deficiency Orphanet ID- 5520 E3-deficient maple syrup urine disease Gene [OrphaNum:121102 ; Name:Dihydrolipoamide dehydrogenase ; Symbol:DLD ; xref: GENATLAS:DLD ; xref: HGNC:2898 ; xref: OMIM:238331 ; xref: UNIPROTKB/SWISSPROT:P09622 ; xref: ENSEMBL:ENSG00000091140 ; xref: REACTOME:P09622] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 ICD10:E74.4 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; EXACT Dihydrolipoamide dehydrogenase deficiency EXACT E3-deficient maple syrup urine disease EXACT DLD deficiency Arachnoid cyst Orphanet ID- 5527 OMIM:207790 OMIM:182990 ICD10:G93.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; Opsismodysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 OMIM:258480 Orphanet ID- 553 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q78.8 Non-rhizomelic chondrodysplasia punctata Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176 ICD10:Q77.3 Orphanet ID- 5532 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; Inheritance- X-linked recessive; Cyclic neutropenia prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2686 OMIM:162800 Orphanet ID- 5534 ICD10:D70 Gene [OrphaNum:121511 ; Name:Elastase, neutrophil expressed ; Symbol:ELANE ; xref: HGNC:3309 ; xref: OMIM:130130 ; xref: GENATLAS:ELANE ; xref: UNIPROTKB/SWISSPROT:P08246 ; xref: ENSEMBL:ENSG00000197561 ; xref: REACTOME:P08246] Shwachman-Diamond syndrome Congenital lipomatosis of pancreas Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Orphanet ID- 5536 Gene [OrphaNum:118476 ; Name:Shwachman-Bodian-Diamond syndrome ; Symbol:SBDS ; xref: GENATLAS:SBDS ; xref: HGNC:19440 ; xref: OMIM:607444 ; xref: UNIPROTKB/SWISSPROT:Q9Y3A5 ; xref: ENSEMBL:ENSG00000126524] OMIM:260400 Congenital lipomatosis of pancreas ICD10:D61.0 EXACT Congenital lipomatosis of pancreas Autosomal dominant hypocalcemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Gene [OrphaNum:119185 ; Name:Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) ; Symbol:CASR ; xref: GENATLAS:CASR ; xref: HGNC:1514 ; xref: OMIM:601199 ; xref: UNIPROTKB/SWISSPROT:P41180 ; xref: ENSEMBL:ENSG00000036828 ; xref: IUPHAR:54 ; xref: REACTOME:P41180] ICD10:E20.8 OMIM:146200 Orphanet ID- 5543 Insulin-resistance syndrome type B ICD10:E11 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 5544 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298 Familial primary hyperparathyroidism DOID:11202 Ele Holloway HP:0008200 OMIM:145980 Tomasz Adamusiak familial benign hypercalcemia (disorder) familial benign hypercalcemia (disorder)[accessedResource: DOID:11202][accessDate: 05-04-2011] familial primary hyperparathyroidism familial primary hyperparathyroidism[accessedResource: DOID:11202][accessDate: 05-04-2011] primary hyperparathyroidism primary hyperparathyroidism (disorder) primary hyperparathyroidism (disorder)[accessedResource: DOID:11202][accessDate: 05-04-2011] OMIM:145000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207 ICD10:E21.0 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 5545 46,XX testicular disorder of sex development 46,XX testicular DSD De la Chapelle syndrome XX, male syndrome OMIM:400045 46,XX testicular DSD XX, male syndrome De la Chapelle syndrome Gene [OrphaNum:119865 ; Name:Sex determining region Y ; Symbol:SRY ; xref: GENATLAS:SRY ; xref: HGNC:11311 ; xref: OMIM:480000 ; xref: UNIPROTKB/SWISSPROT:Q05066 ; xref: ENSEMBL:ENSG00000184895] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 5546 ICD10:Q99.1 OMIM:278850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 EXACT De la Chapelle syndrome EXACT 46,XX testicular DSD EXACT XX, male syndrome Osteopetrosis with renal tubular acidosis Carbonic anhydrase 2 deficiency Guibaud-Vainsel syndrome Marble brain disease OMIM:259730 Guibaud-Vainsel syndrome ICD10:Q78.2 Orphanet ID- 555 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 Carbonic anhydrase 2 deficiency Marble brain disease Gene [OrphaNum:119117 ; Name:Carbonic anhydrase II ; Symbol:CA2 ; xref: GENATLAS:CA2 ; xref: HGNC:1373 ; xref: OMIM:259730 ; xref: UNIPROTKB/SWISSPROT:P00918 ; xref: ENSEMBL:ENSG00000104267] EXACT Marble brain disease EXACT Guibaud-Vainsel syndrome EXACT Carbonic anhydrase 2 deficiency Juvenile Paget's disease Familial osteoectasia Hereditary hyperphosphatasia Hyperostosid corticalis deformans juvenilis JPG Hereditary hyperphosphatasia Familial osteoectasia JPG Orphanet ID- 556 ICD10:M88.9 Hyperostosid corticalis deformans juvenilis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:120164 ; Name:Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) ; Symbol:TNFRSF11B ; xref: GENATLAS:TNFRSF11B ; xref: HGNC:11909 ; xref: OMIM:602643 ; xref: UNIPROTKB/SWISSPROT:O00300 ; xref: ENSEMBL:ENSG00000164761] OMIM:239000 EXACT Hereditary hyperphosphatasia EXACT Familial osteoectasia EXACT Hyperostosid corticalis deformans juvenilis EXACT JPG Tetrasomy 12p Isochromosome 12p mosaicism Isochromosome 12p syndrome Pallister-Killian syndrome Pallister-Killian syndrome OMIM:601803 Isochromosome 12p syndrome prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic; Isochromosome 12p mosaicism ICD10:Q99.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 Orphanet ID- 557 EXACT Isochromosome 12p mosaicism EXACT Pallister-Killian syndrome EXACT Isochromosome 12p syndrome Pendred syndrome Goiter - deafness Orphanet ID- 558 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:E07.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 Goiter - deafness Gene [OrphaNum:118821 ; Name:Solute carrier family 26, member 4 ; Symbol:SLC26A4 ; xref: GENATLAS:SLC26A4 ; xref: HGNC:8818 ; xref: OMIM:605646 ; xref: UNIPROTKB/SWISSPROT:O43511 ; xref: ENSEMBL:ENSG00000091137 ; xref: REACTOME:O43511] Gene [OrphaNum:231422 ; Name:Forkhead box I1 ; Symbol:FOXI1 ; xref: ENSEMBL:ENSG00000168269 ; xref: GENATLAS:FOXI1 ; xref: HGNC:3815 ; xref: UNIPROTKB/SWISSPROT:Q12951 ; xref: OMIM:601093] OMIM:274600 EXACT Goiter - deafness Isolated Pierre Robin syndrome Isolated Pierre Robin sequence Orphanet ID- 562 ICD10:Q87.0 Isolated Pierre Robin sequence prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 OMIM:261800 EXACT Isolated Pierre Robin sequence Familial spontaneous pneumothorax Orphanet ID- 564 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:173600 Gene [OrphaNum:121839 ; Name:Folliculin ; Symbol:FLCN ; xref: HGNC:27310 ; xref: OMIM:607273 ; xref: UNIPROTKB/SWISSPROT:Q8NFG4 ; xref: GENATLAS:FLCN ; xref: ENSEMBL:ENSG00000154803] ICD10:J93.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 Proteus syndrome Partial gigantism - nevi - hemihypertrophy - macrocephaly Partial gigantism - nevi - hemihypertrophy - macrocephaly OMIM:176920 ICD10:Q87.3 Orphanet ID- 565 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:281472 ; Name:V-akt murine thymoma viral oncogene homolog 1 ; Symbol:AKT1 ; xref: ENSEMBL:ENSG00000142208 ; xref: REACTOME:P31749 ; xref: HGNC:391 ; xref: OMIM:164730 ; xref: GENATLAS:AKT1 ; xref: UNIPROTKB/SWISSPROT:P31749] EXACT Partial gigantism - nevi - hemihypertrophy - macrocephaly Prune belly syndrome Eagle-Barret syndrome Urethral obstruction sequence Urethral obstruction sequence Orphanet ID- 566 Eagle-Barret syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 ICD10:Q79.4 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; OMIM:100100 Gene [OrphaNum:299148 ; Name:Cholinergic receptor, muscarinic 3 ; Symbol:CHRM3 ; xref: HGNC:1952 ; xref: OMIM:118494 ; xref: GENATLAS:CHRM3 ; xref: UNIPROTKB/SWISSPROT:P20309] EXACT Urethral obstruction sequence EXACT Eagle-Barret syndrome Peroxisomal acyl-CoA oxidase deficiency Pseudo-NALD Pseudo-neonatal adrenoleukodystrophy Pseudoadrenoleukodystrophy Gene [OrphaNum:117738 ; Name:Acyl-Coenzyme A oxidase 1, palmitoyl ; Symbol:ACOX1 ; xref: GENATLAS:ACOX1 ; xref: HGNC:119 ; xref: OMIM:609751 ; xref: UNIPROTKB/SWISSPROT:Q15067 ; xref: ENSEMBL:ENSG00000161533 ; xref: REACTOME:Q15067] Pseudo-NALD ICD10:E71.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 Pseudoadrenoleukodystrophy OMIM:264470 Pseudo-neonatal adrenoleukodystrophy prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Child / adolescent; Inheritance- Autosomal recessive; Orphanet ID- 567 EXACT Pseudoadrenoleukodystrophy EXACT Pseudo-neonatal adrenoleukodystrophy EXACT Pseudo-NALD Pseudo-Zellweger syndrome Thiolase deficiency Thiolase deficiency Orphanet ID- 568 OMIM:604054 Gene [OrphaNum:124200 ; Name:Peroxisomal biogenesis factor 16 ; Symbol:PEX16 ; xref: GENATLAS:PEX16 ; xref: HGNC:8857 ; xref: OMIM:603360 ; xref: UNIPROTKB/SWISSPROT:Q9Y5Y5 ; xref: ENSEMBL:ENSG00000121680] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2981 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; ICD10:E71.3 Gene [OrphaNum:122513 ; Name:Hydroxysteroid (17-beta) dehydrogenase 4 ; Symbol:HSD17B4 ; xref: GENATLAS:HSD17B4 ; xref: HGNC:5213 ; xref: OMIM:601860 ; xref: UNIPROTKB/SWISSPROT:P51659 ; xref: ENSEMBL:ENSG00000133835 ; xref: REACTOME:P51659] EXACT Thiolase deficiency Disorder of sex development - intellectual deficit Pseudohermaphroditism - intellectual deficit Verloes-Gillerot-Fryns syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Unknown; Pseudohermaphroditism - intellectual deficit OMIM:600122 Verloes-Gillerot-Fryns syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 ICD10:Q56.3 Orphanet ID- 570 EXACT Pseudohermaphroditism - intellectual deficit EXACT Verloes-Gillerot-Fryns syndrome Pycnodysostosis OMIM:265800 Orphanet ID- 571 ICD10:Q78.8 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 Gene [OrphaNum:120897 ; Name:Cathepsin K ; Symbol:CTSK ; xref: GENATLAS:CTSK ; xref: HGNC:2536 ; xref: OMIM:601105 ; xref: UNIPROTKB/SWISSPROT:P43235 ; xref: REACTOME:P43235 ; xref: ENSEMBL:ENSG00000143387] Costello syndrome FCS syndrome Faciocutaneoskeletal syndrome Intellectual deficit - nasal papillomata FCS syndrome Faciocutaneoskeletal syndrome Intellectual deficit - nasal papillomata prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 Orphanet ID- 574 Gene [OrphaNum:122499 ; Name:V-Ha-ras Harvey rat sarcoma viral oncogene homolog ; Symbol:HRAS ; xref: GENATLAS:HRAS ; xref: HGNC:5173 ; xref: OMIM:190020 ; xref: UNIPROTKB/SWISSPROT:P01112 ; xref: REACTOME:P01112 ; xref: ENSEMBL:ENSG00000174775] OMIM:218040 ICD10:Q87.8 Gene [OrphaNum:122879 ; Name:V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog ; Symbol:KRAS ; xref: GENATLAS:KRAS ; xref: HGNC:6407 ; xref: OMIM:190070 ; xref: UNIPROTKB/SWISSPROT:P01116 ; xref: ENSEMBL:ENSG00000133703 ; xref: REACTOME:P01116] EXACT FCS syndrome EXACT Intellectual deficit - nasal papillomata EXACT Faciocutaneoskeletal syndrome Free sialic acid storage disease Salla disease ICD10:E77.8 Orphanet ID- 578 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 OMIM:269920 OMIM:604369 Gene [OrphaNum:118753 ; Name:Solute carrier family 17 (anion/sugar transporter), member 5 ; Symbol:SLC17A5 ; xref: GENATLAS:SLC17A5 ; xref: HGNC:10933 ; xref: OMIM:604322 ; xref: UNIPROTKB/SWISSPROT:Q9NRA2 ; xref: ENSEMBL:ENSG00000119899 ; xref: REACTOME:Q9NRA2] Salla disease EXACT Salla disease Familial Scheuermann disease Familial Scheuermann juvenile kyphosis Familial spinal osteochondrosis prevalence- null; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3135 Familial spinal osteochondrosis OMIM:181440 Orphanet ID- 579 Familial Scheuermann juvenile kyphosis EXACT Familial Scheuermann juvenile kyphosis EXACT Familial spinal osteochondrosis Schizencephaly ICD10:Q04.6 Gene [OrphaNum:121529 ; Name:Empty spiracles homeobox 2 ; Symbol:EMX2 ; xref: GENATLAS:EMX2 ; xref: HGNC:3341 ; xref: OMIM:600035 ; xref: UNIPROTKB/SWISSPROT:Q04743 ; xref: ENSEMBL:ENSG00000170370] Orphanet ID- 580 Gene [OrphaNum:118703 ; Name:Sonic hedgehog homolog (Drosophila) ; Symbol:SHH ; xref: OMIM:600725 ; xref: UNIPROTKB/SWISSPROT:Q15465 ; xref: GENATLAS:SHH ; xref: HGNC:10848 ; xref: REACTOME:Q15465 ; xref: ENSEMBL:ENSG00000164690] prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Gene [OrphaNum:118725 ; Name:SIX homeobox 3 ; Symbol:SIX3 ; xref: GENATLAS:SIX3 ; xref: HGNC:10889 ; xref: OMIM:603714 ; xref: UNIPROTKB/SWISSPROT:O95343 ; xref: ENSEMBL:ENSG00000138083] OMIM:269160 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 Schizophrenia - intellectual deficit - deafness - retinitis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3141 prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 581 Multiple sclerosis - ichthyosis - factor VIII deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 582 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 Silver-Russell syndrome Silver-Russell dwarfism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 Silver-Russell dwarfism OMIM:180860 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:312780 ICD10:Q87.1 Orphanet ID- 584 EXACT Silver-Russell dwarfism Sirenomelia ICD10:Q87.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 Orphanet ID- 585 OMIM:600145 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Sjogren-Larsson syndrome Fatty acid alcohol oxidoreductase deficiency OMIM:270200 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 ICD10:E71.3 Orphanet ID- 586 Gene [OrphaNum:119583 ; Name:Aldehyde dehydrogenase 3 family, member A2 ; Symbol:ALDH3A2 ; xref: GENATLAS:ALDH3A2 ; xref: HGNC:403 ; xref: OMIM:609523 ; xref: UNIPROTKB/SWISSPROT:P51648 ; xref: ENSEMBL:ENSG00000072210] Fatty acid alcohol oxidoreductase deficiency prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; EXACT Fatty acid alcohol oxidoreductase deficiency Sotos syndrome Cerebral gigantism true Gene [OrphaNum:239888 ; Name:Nuclear factor I/X (CCAAT-binding transcription factor) ; Symbol:NFIX ; xref: GENATLAS:NFIX ; xref: HGNC:7788 ; xref: OMIM:164005 ; xref: UNIPROTKB/SWISSPROT:Q14938 ; xref: ENSEMBL:ENSG00000008441 ; xref: REACTOME:Q14938] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Cerebral gigantism Orphanet ID- 588 Gene [OrphaNum:123937 ; Name:Nuclear receptor binding SET domain protein 1 ; Symbol:NSD1 ; xref: GENATLAS:NSD1 ; xref: HGNC:14234 ; xref: OMIM:606681 ; xref: UNIPROTKB/SWISSPROT:Q96L73 ; xref: ENSEMBL:ENSG00000165671] OMIM:117550 ICD10:Q87.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 EXACT Cerebral gigantism Infantile spasms - broad thumbs Tsao-Ellingson syndrome Tsao-Ellingson syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 Orphanet ID- 589 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Tsao-Ellingson syndrome Emery-Dreifuss muscular dystrophy EDMD Emerinopathy prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; EDMD Emerinopathy ICD10:G71.0 Orphanet ID- 59 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 EXACT Emerinopathy EXACT EDMD Stormorken-Sjaastad-Langslet syndrome Thrombocytopathy - asplenia - miosis Orphanet ID- 590 OMIM:185070 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 Thrombocytopathy - asplenia - miosis prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:D69.8 EXACT Thrombocytopathy - asplenia - miosis Sturge-Weber syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q85.8 OMIM:185300 Orphanet ID- 591 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Thrombocytopenia - absent radius TAR syndrome OMIM:274000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 Gene [OrphaNum:296697 ; Name:RNA binding motif protein 8A ; Symbol:RBM8A ; xref: HGNC:9905 ; xref: OMIM:605313 ; xref: GENATLAS:RBM8A ; xref: UNIPROTKB/SWISSPROT:Q9Y5S9] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; TAR syndrome Orphanet ID- 595 ICD10:Q87.2 EXACT TAR syndrome Tracheal agenesis ICD10:Q32.1 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Sporadic; Orphanet ID- 597 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 BIDS syndrome Amish brittle hair syndrome Trichothiodystrophy type D Gene [OrphaNum:119113 ; Name:M-phase specific PLK1 interacting protein ; Symbol:MPLKIP ; xref: GENATLAS:C7orf11 ; xref: HGNC:16002 ; xref: OMIM:609188 ; xref: UNIPROTKB/SWISSPROT:Q8TAP9 ; xref: ENSEMBL:ENSG00000168303] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:Q87.1 ICD10:L67.8 Orphanet ID- 598 Amish brittle hair syndrome Trichothiodystrophy type D OMIM:234050 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1245 EXACT Trichothiodystrophy type D EXACT Amish brittle hair syndrome Multiple sulfatase deficiency Austin type juvenile sulfatidosis Mucosulfatidosis Mucosulfatidosis Orphanet ID- 6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 OMIM:272200 ICD10:E75.2 Gene [OrphaNum:119899 ; Name:Sulfatase modifying factor 1 ; Symbol:SUMF1 ; xref: OMIM:607939 ; xref: UNIPROTKB/SWISSPROT:Q8NBK3 ; xref: GENATLAS:SUMF1 ; xref: HGNC:20376 ; xref: ENSEMBL:ENSG00000144455] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Austin type juvenile sulfatidosis EXACT Mucosulfatidosis EXACT Austin type juvenile sulfatidosis Proximal tubulopathy - diabetes mellitus - cerebellar ataxia prevalence- 1 / 1 000 000; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3390 ICD10:Q87.8 Orphanet ID- 600 OMIM:560000 Aniridia Deletion 11p Orphanet ID- 6018 ICD10:Q13.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77 OMIM:106210 Deletion 11p prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Deletion 11p Microcephalic osteodysplastic primordial short stature type 2 MOPD type II OMIM:210720 Gene [OrphaNum:159181 ; Name:Pericentrin ; Symbol:PCNT ; xref: GENATLAS:PCNT ; xref: HGNC:16068 ; xref: OMIM:605925 ; xref: UNIPROTKB/SWISSPROT:O95613 ; xref: ENSEMBL:ENSG00000160299 ; xref: REACTOME:O95613] Orphanet ID- 6020 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 ICD10:Q87.1 MOPD type II prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT MOPD type II Chordoma Orphanet ID- 6023 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 OMIM:215400 VACTERL/VATER association VACTERL association VATER association VACTERL association OMIM:192350 Gene [OrphaNum:122466 ; Name:Homeobox D13 ; Symbol:HOXD13 ; xref: GENATLAS:HOXD13 ; xref: HGNC:5136 ; xref: OMIM:142989 ; xref: UNIPROTKB/SWISSPROT:P35453 ; xref: ENSEMBL:ENSG00000128714] ICD10:Q87.2 VATER association Orphanet ID- 603 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 EXACT VATER association EXACT VACTERL association Weaver syndrome Camptodactyly - overgrowth - unusual facies Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 Camptodactyly - overgrowth - unusual facies Gene [OrphaNum:291819 ; Name:Enhancer of zeste homolog 2 (Drosophila) ; Symbol:EZH2 ; xref: HGNC:3527 ; xref: OMIM:601573 ; xref: GENATLAS:EZH2 ; xref: UNIPROTKB/SWISSPROT:Q15910 ; xref: ENSEMBL:ENSG00000106462] Gene [OrphaNum:123937 ; Name:Nuclear receptor binding SET domain protein 1 ; Symbol:NSD1 ; xref: GENATLAS:NSD1 ; xref: HGNC:14234 ; xref: OMIM:606681 ; xref: UNIPROTKB/SWISSPROT:Q96L73 ; xref: ENSEMBL:ENSG00000165671] OMIM:277590 Orphanet ID- 604 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:614421 ICD10:Q87.3 EXACT Camptodactyly - overgrowth - unusual facies Cerebrotendinous xanthomatosis CTX Sterol 27-hydroxylase deficiency Sterol 27-hydroxylase deficiency CTX Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 OMIM:213700 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- Autosomal recessive; ICD10:E75.5 Gene [OrphaNum:120989 ; Name:Cytochrome P450, family 27, subfamily A, polypeptide 1 ; Symbol:CYP27A1 ; xref: GENATLAS:CYP27A1 ; xref: HGNC:2605 ; xref: OMIM:606530 ; xref: UNIPROTKB/SWISSPROT:Q02318 ; xref: REACTOME:Q02318 ; xref: ENSEMBL:ENSG00000135929] Orphanet ID- 605 EXACT Sterol 27-hydroxylase deficiency EXACT CTX Chondrodysplasia - disorder of sex development Chondrodysplasia - pseudohermaphrodism Nivelon-Nivelon-Mabille syndrome Orphanet ID- 606 Nivelon-Nivelon-Mabille syndrome OMIM:600092 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 ICD10:Q87.1 Chondrodysplasia - pseudohermaphrodism EXACT Chondrodysplasia - pseudohermaphrodism EXACT Nivelon-Nivelon-Mabille syndrome Kearns-Sayre syndrome Gene [OrphaNum:159773 ; Name:Mitochondrially encoded ATP synthase 8 ; Symbol:MT-ATP8 ; xref: GENATLAS:MT-ATP8 ; xref: HGNC:7415 ; xref: OMIM:516070 ; xref: UNIPROTKB/SWISSPROT:P03928 ; xref: ENSEMBL:ENSG00000229604 ; xref: REACTOME:P03928] ICD10:H49.8 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Young adult; Inheritance- Mitochondrial inheritance; Gene [OrphaNum:168101 ; Name:Ribonucleotide reductase M2 B (TP53 inducible) ; Symbol:RRM2B ; xref: OMIM:604712 ; xref: UNIPROTKB/SWISSPROT:Q9NTD8 ; xref: GENATLAS:RRM2B ; xref: HGNC:17296 ; xref: ENSEMBL:ENSG00000048392 ; xref: REACTOME:Q9NTD8] Orphanet ID- 61 OMIM:530000 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 Gene [OrphaNum:138895 ; Name:Mitochondrially encoded tRNA leucine 1 (UUA/G) ; Symbol:MT-TL1 ; xref: GENATLAS:MT-TL1 ; xref: HGNC:7490 ; xref: OMIM:590050] Potassium-aggravated myotonia K+-aggravated myotonia K-aggravated myotonia PAM prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 PAM Orphanet ID- 610 OMIM:608390 K-aggravated myotonia ICD10:G71.1 K+-aggravated myotonia EXACT PAM EXACT K-aggravated myotonia EXACT K+-aggravated myotonia Phenylketonuria PAH deficiency PKU Phenylalanine hydroxylase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 Orphanet ID- 611 OMIM:261600 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; PAH deficiency Phenylalanine hydroxylase deficiency PKU ICD10:E70.0 ICD10:E70.1 EXACT PKU EXACT PAH deficiency EXACT Phenylalanine hydroxylase deficiency Ehlers-Danlos syndrome, classic type EDS, classic type prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 612 EDS, classic type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 OMIM:130000 OMIM:130010 ICD10:Q79.6 EXACT EDS, classic type Facioscapulohumeral dystrophy FSH dystrophy FSHD Facioscapulohumeral muscular dystrophy Facioscapulohumeral myopathy Landouzy-Dejerine myopathy Facioscapulohumeral muscular dystrophy Landouzy-Dejerine myopathy Orphanet ID- 62 Gene [OrphaNum:121930 ; Name:FSHD region gene 1 ; Symbol:FRG1 ; xref: GENATLAS:FRG1 ; xref: HGNC:3954 ; xref: OMIM:601278 ; xref: UNIPROTKB/SWISSPROT:Q14331 ; xref: ENSEMBL:ENSG00000109536] prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 Gene [OrphaNum:121239 ; Name:Double homeobox, 4 ; Symbol:DUX4 ; xref: ENSEMBL:ENSG00000258389 ; xref: GENATLAS:DUX4 ; xref: HGNC:3082 ; xref: OMIM:606009 ; xref: UNIPROTKB/SWISSPROT:Q9UBX2] FSHD OMIM:600416 OMIM:158900 OMIM:158901 ICD10:G71.0 FSH dystrophy Facioscapulohumeral myopathy OMIM:160570 EXACT Facioscapulohumeral myopathy EXACT FSHD EXACT Facioscapulohumeral muscular dystrophy EXACT Landouzy-Dejerine myopathy EXACT FSH dystrophy X-linked recessive ocular albinism OA-1 Ocular albinism type 1 Ocular albinism, Nettleship-Falls type OMIM:300500 Orphanet ID- 629 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 Ocular albinism, Nettleship-Falls type Ocular albinism type 1 Gene [OrphaNum:122263 ; Name:G protein-coupled receptor 143 ; Symbol:GPR143 ; xref: GENATLAS:GPR143 ; xref: HGNC:20145 ; xref: OMIM:300808 ; xref: UNIPROTKB/SWISSPROT:P51810 ; xref: IUPHAR:203 ; xref: ENSEMBL:ENSG00000101850] ICD10:E70.3 OA-1 EXACT Ocular albinism type 1 EXACT Ocular albinism, Nettleship-Falls type EXACT OA-1 MELAS syndrome Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Gene [OrphaNum:167905 ; Name:Mitochondrially encoded tRNA serine 2 (AGU/C) ; Symbol:MT-TS2 ; xref: GENATLAS:MT-TS2 ; xref: HGNC:7498 ; xref: OMIM:590085] Gene [OrphaNum:138906 ; Name:Mitochondrially encoded tRNA glutamine ; Symbol:MT-TQ ; xref: OMIM:590030 ; xref: GENATLAS:MT-TQ ; xref: HGNC:7495] ICD10:G71.3 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Inheritance- Sporadic; Gene [OrphaNum:123562 ; Name:Mitochondrially encoded NADH dehydrogenase 5 ; Symbol:MT-ND5 ; xref: GENATLAS:MT-ND5 ; xref: HGNC:7461 ; xref: OMIM:516005 ; xref: UNIPROTKB/SWISSPROT:P03915 ; xref: ENSEMBL:ENSG00000198786 ; xref: REACTOME:P03915] Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Gene [OrphaNum:167901 ; Name:Mitochondrially encoded tRNA serine 1 (UCN) ; Symbol:MT-TS1 ; xref: GENATLAS:MT-TS1 ; xref: HGNC:7497 ; xref: OMIM:590080] Gene [OrphaNum:138895 ; Name:Mitochondrially encoded tRNA leucine 1 (UUA/G) ; Symbol:MT-TL1 ; xref: GENATLAS:MT-TL1 ; xref: HGNC:7490 ; xref: OMIM:590050] Gene [OrphaNum:138900 ; Name:Mitochondrially encoded tRNA lysine ; Symbol:MT-TK ; xref: GENATLAS:MT-TK ; xref: HGNC:7489 ; xref: OMIM:590060] Gene [OrphaNum:167909 ; Name:Mitochondrially encoded tRNA phenylalanine ; Symbol:MT-TF ; xref: GENATLAS:MT-TF ; xref: HGNC:7481 ; xref: OMIM:590070] Gene [OrphaNum:166766 ; Name:Mitochondrially encoded tRNA histidine ; Symbol:MT-TH ; xref: GENATLAS:MT-TH ; xref: HGNC:7487 ; xref: OMIM:590040] Gene [OrphaNum:123552 ; Name:Mitochondrially encoded NADH dehydrogenase 4 ; Symbol:MT-ND4 ; xref: ENSEMBL:ENSG00000198886 ; xref: GENATLAS:MT-ND4 ; xref: HGNC:7459 ; xref: OMIM:516003 ; xref: UNIPROTKB/SWISSPROT:P03905 ; xref: REACTOME:P03905] Gene [OrphaNum:123537 ; Name:Mitochondrially encoded NADH dehydrogenase 1 ; Symbol:MT-ND1 ; xref: ENSEMBL:ENSG00000198888 ; xref: REACTOME:P03886 ; xref: GENATLAS:MT-ND1 ; xref: HGNC:7455 ; xref: OMIM:516000 ; xref: UNIPROTKB/SWISSPROT:P03886] Gene [OrphaNum:123520 ; Name:Mitochondrially encoded cytochrome c oxidase III ; Symbol:MT-CO3 ; xref: GENATLAS:MT-CO3 ; xref: HGNC:7422 ; xref: OMIM:516050 ; xref: UNIPROTKB/SWISSPROT:P00414 ; xref: ENSEMBL:ENSG00000198938 ; xref: REACTOME:P00414] Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Gene [OrphaNum:123567 ; Name:Mitochondrially encoded NADH dehydrogenase 6 ; Symbol:MT-ND6 ; xref: GENATLAS:MT-ND6 ; xref: HGNC:7462 ; xref: OMIM:516006 ; xref: UNIPROTKB/SWISSPROT:P03923 ; xref: ENSEMBL:ENSG00000198695 ; xref: REACTOME:P03923] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 Orphanet ID- 63 OMIM:540000 EXACT Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes EXACT Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Alport syndrome Alport deafness-nephropathy Orphanet ID- 630 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 Alport deafness-nephropathy ICD10:Q87.8 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; EXACT Alport deafness-nephropathy Early-onset autosomal dominant Alzheimer disease EOFAD Early-onset familial autosomal dominant Alzheimer disease Familial Alzheimer disease Gene [OrphaNum:118099 ; Name:Presenilin 1 ; Symbol:PSEN1 ; xref: GENATLAS:PSEN1 ; xref: HGNC:9508 ; xref: OMIM:104311 ; xref: UNIPROTKB/SWISSPROT:P49768 ; xref: REACTOME:P49768 ; xref: ENSEMBL:ENSG00000080815] Early-onset familial autosomal dominant Alzheimer disease Gene [OrphaNum:118105 ; Name:Presenilin 2 (Alzheimer disease 4) ; Symbol:PSEN2 ; xref: GENATLAS:PSEN2 ; xref: HGNC:9509 ; xref: OMIM:600759 ; xref: UNIPROTKB/SWISSPROT:P49810 ; xref: REACTOME:P49810 ; xref: ENSEMBL:ENSG00000143801] OMIM:609790 OMIM:606187 EOFAD OMIM:611152 OMIM:605055 OMIM:611073 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 OMIM:607822 Familial Alzheimer disease OMIM:104300 Orphanet ID- 631 OMIM:606889 OMIM:607116 ICD10:G30.0 OMIM:611154 OMIM:611155 OMIM:608907 OMIM:609636 OMIM:602096 OMIM:300756 Gene [OrphaNum:121393 ; Name:Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease) ; Symbol:APP ; xref: GENATLAS:APP ; xref: HGNC:620 ; xref: OMIM:104760 ; xref: UNIPROTKB/SWISSPROT:P05067 ; xref: ENSEMBL:ENSG00000142192 ; xref: REACTOME:P05067] prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:605526 OMIM:104310 EXACT Early-onset familial autosomal dominant Alzheimer disease EXACT Familial Alzheimer disease EXACT EOFAD Proximal spinal muscular atrophy SMA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; SMA ICD10:G12.0 Orphanet ID- 633 ICD10:G12.1 EXACT SMA Fanconi anemia Fanconi pancytopenia OMIM:610832 OMIM:605724 Gene [OrphaNum:119080 ; Name:BRCA1 interacting protein C-terminal helicase 1 ; Symbol:BRIP1 ; xref: GENATLAS:BRIP1 ; xref: HGNC:20473 ; xref: OMIM:605882 ; xref: UNIPROTKB/SWISSPROT:Q9BX63 ; xref: ENSEMBL:ENSG00000136492 ; xref: REACTOME:Q9BX63] Gene [OrphaNum:121726 ; Name:Fanconi anemia, complementation group L ; Symbol:FANCL ; xref: GENATLAS:FANCL ; xref: HGNC:20748 ; xref: OMIM:608111 ; xref: UNIPROTKB/SWISSPROT:Q9NW38 ; xref: ENSEMBL:ENSG00000115392 ; xref: REACTOME:Q9NW38] Orphanet ID- 634 Gene [OrphaNum:121709 ; Name:Fanconi anemia, complementation group D2 ; Symbol:FANCD2 ; xref: GENATLAS:FANCD2 ; xref: HGNC:3585 ; xref: OMIM:613984 ; xref: UNIPROTKB/SWISSPROT:Q9BXW9 ; xref: REACTOME:Q9BXW9 ; xref: ENSEMBL:ENSG00000144554] OMIM:227645 OMIM:227646 Gene [OrphaNum:121719 ; Name:Fanconi anemia, complementation group F ; Symbol:FANCF ; xref: UNIPROTKB/SWISSPROT:Q9NPI8 ; xref: OMIM:613897 ; xref: GENATLAS:FANCF ; xref: HGNC:3587 ; xref: ENSEMBL:ENSG00000183161 ; xref: REACTOME:Q9NPI8] Gene [OrphaNum:121705 ; Name:Fanconi anemia, complementation group C ; Symbol:FANCC ; xref: GENATLAS:FANCC ; xref: HGNC:3584 ; xref: UNIPROTKB/SWISSPROT:Q00597 ; xref: OMIM:613899 ; xref: ENSEMBL:ENSG00000158169 ; xref: REACTOME:Q00597] Gene [OrphaNum:139189 ; Name:Partner and localizer of BRCA2 ; Symbol:PALB2 ; xref: GENATLAS:PALB2 ; xref: HGNC:26144 ; xref: OMIM:610355 ; xref: UNIPROTKB/SWISSPROT:Q86YC2 ; xref: REACTOME:Q86YC2 ; xref: ENSEMBL:ENSG00000083093] OMIM:603467 Gene [OrphaNum:121715 ; Name:Fanconi anemia, complementation group E ; Symbol:FANCE ; xref: GENATLAS:FANCE ; xref: HGNC:3586 ; xref: OMIM:613976 ; xref: UNIPROTKB/SWISSPROT:Q9HB96 ; xref: REACTOME:Q9HB96 ; xref: ENSEMBL:ENSG00000112039] Gene [OrphaNum:121693 ; Name:Fanconi anemia, complementation group A ; Symbol:FANCA ; xref: GENATLAS:FANCA ; xref: HGNC:3582 ; xref: OMIM:607139 ; xref: UNIPROTKB/SWISSPROT:O15360 ; xref: REACTOME:O15360 ; xref: ENSEMBL:ENSG00000187741] Gene [OrphaNum:121730 ; Name:Fanconi anemia, complementation group M ; Symbol:FANCM ; xref: GENATLAS:FANCM ; xref: HGNC:23168 ; xref: OMIM:609644 ; xref: UNIPROTKB/SWISSPROT:Q8IYD8 ; xref: ENSEMBL:ENSG00000187790 ; xref: REACTOME:Q8IYD8] Gene [OrphaNum:121722 ; Name:Fanconi anemia, complementation group G ; Symbol:FANCG ; xref: GENATLAS:FANCG ; xref: HGNC:3588 ; xref: OMIM:602956 ; xref: UNIPROTKB/SWISSPROT:O15287 ; xref: REACTOME:O15287 ; xref: ENSEMBL:ENSG00000221829] OMIM:609053 OMIM:609054 Gene [OrphaNum:121700 ; Name:Fanconi anemia, complementation group B ; Symbol:FANCB ; xref: GENATLAS:FANCB ; xref: HGNC:3583 ; xref: OMIM:300515 ; xref: UNIPROTKB/SWISSPROT:Q8NB91 ; xref: REACTOME:Q8NB91 ; xref: ENSEMBL:ENSG00000181544] OMIM:613390 OMIM:227650 OMIM:614083 OMIM:600901 Fanconi pancytopenia Gene [OrphaNum:259354 ; Name:SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ; Symbol:SLX4 ; xref: ENSEMBL:ENSG00000188827 ; xref: HGNC:23845 ; xref: GENATLAS:BTBD12 ; xref: OMIM:613278 ; xref: UNIPROTKB/SWISSPROT:Q8IY92] ICD10:D61.0 OMIM:613951 Gene [OrphaNum:119072 ; Name:Breast cancer 2, early onset ; Symbol:BRCA2 ; xref: GENATLAS:BRCA2 ; xref: HGNC:1101 ; xref: OMIM:600185 ; xref: UNIPROTKB/SWISSPROT:P51587 ; xref: REACTOME:P51587 ; xref: ENSEMBL:ENSG00000139618] OMIM:614082 Gene [OrphaNum:138447 ; Name:Fanconi anemia, complementation group I ; Symbol:FANCI ; xref: GENATLAS:FANCI ; xref: HGNC:25568 ; xref: OMIM:611360 ; xref: UNIPROTKB/SWISSPROT:Q9NVI1 ; xref: ENSEMBL:ENSG00000140525 ; xref: REACTOME:Q9NVI1] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 OMIM:614087 OMIM:300514 Gene [OrphaNum:229784 ; Name:RAD51 homolog C (S. cerevisiae) ; Symbol:RAD51C ; xref: REACTOME:O43502 ; xref: ENSEMBL:ENSG00000108384 ; xref: HGNC:9820 ; xref: GENATLAS:RAD51C ; xref: OMIM:602774 ; xref: UNIPROTKB/SWISSPROT:O43502] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; EXACT Fanconi pancytopenia Familial isolated dilated cardiomyopathy Familial or idiopathic dilated cardiomyopathy Gene [OrphaNum:218040 ; Name:RNA binding motif protein 20 ; Symbol:RBM20 ; xref: ENSEMBL:ENSG00000203867 ; xref: GENATLAS:RBM20 ; xref: HGNC:27424 ; xref: OMIM:613171 ; xref: UNIPROTKB/SWISSPROT:Q5T481] Orphanet ID- 635 Gene [OrphaNum:123375 ; Name:Dolichol kinase ; Symbol:DOLK ; xref: GENATLAS:DOLK ; xref: HGNC:23406 ; xref: OMIM:610746 ; xref: UNIPROTKB/SWISSPROT:Q9UPQ8 ; xref: ENSEMBL:ENSG00000175283 ; xref: REACTOME:Q9UPQ8] Gene [OrphaNum:120220 ; Name:Tropomyosin 1 (alpha) ; Symbol:TPM1 ; xref: GENATLAS:TPM1 ; xref: HGNC:12010 ; xref: OMIM:191010 ; xref: UNIPROTKB/SWISSPROT:P09493 ; xref: REACTOME:P09493 ; xref: ENSEMBL:ENSG00000140416] prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive; ICD10:I42.0 Gene [OrphaNum:159087 ; Name:Vinculin ; Symbol:VCL ; xref: ENSEMBL:ENSG00000035403 ; xref: REACTOME:P18206 ; xref: GENATLAS:VCL ; xref: HGNC:12665 ; xref: OMIM:193065 ; xref: UNIPROTKB/SWISSPROT:P18206] Gene [OrphaNum:121117 ; Name:Dystrophin (muscular dystrophy, Duchenne and Becker types) ; Symbol:DMD ; xref: GENATLAS:DMD ; xref: HGNC:2928 ; xref: OMIM:300377 ; xref: UNIPROTKB/SWISSPROT:P11532 ; xref: ENSEMBL:ENSG00000198947 ; xref: REACTOME:P11532] Gene [OrphaNum:159586 ; Name:Four and a half LIM domains 2 ; Symbol:FHL2 ; xref: GENATLAS:FHL2 ; xref: HGNC:3703 ; xref: OMIM:602633 ; xref: UNIPROTKB/SWISSPROT:Q14192 ; xref: REACTOME:Q14192 ; xref: ENSEMBL:ENSG00000115641] OMIM:609915 Gene [OrphaNum:225306 ; Name:Nexilin (F actin binding protein) ; Symbol:NEXN ; xref: ENSEMBL:ENSG00000162614 ; xref: GENATLAS:NEXN ; xref: HGNC:29557 ; xref: OMIM:613121 ; xref: UNIPROTKB/SWISSPROT:Q0ZGT2] Gene [OrphaNum:120184 ; Name:Troponin I type 3 (cardiac) ; Symbol:TNNI3 ; xref: GENATLAS:TNNI3 ; xref: HGNC:11947 ; xref: OMIM:191044 ; xref: UNIPROTKB/SWISSPROT:P19429 ; xref: REACTOME:P19429 ; xref: ENSEMBL:ENSG00000129991] OMIM:613252 Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] Gene [OrphaNum:118549 ; Name:Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ; Symbol:SDHA ; xref: OMIM:600857 ; xref: UNIPROTKB/SWISSPROT:P31040 ; xref: GENATLAS:SDHA ; xref: HGNC:10680 ; xref: ENSEMBL:ENSG00000073578 ; xref: REACTOME:P31040] Gene [OrphaNum:118099 ; Name:Presenilin 1 ; Symbol:PSEN1 ; xref: GENATLAS:PSEN1 ; xref: HGNC:9508 ; xref: OMIM:104311 ; xref: UNIPROTKB/SWISSPROT:P49768 ; xref: REACTOME:P49768 ; xref: ENSEMBL:ENSG00000080815] OMIM:613172 Gene [OrphaNum:118105 ; Name:Presenilin 2 (Alzheimer disease 4) ; Symbol:PSEN2 ; xref: GENATLAS:PSEN2 ; xref: HGNC:9509 ; xref: OMIM:600759 ; xref: UNIPROTKB/SWISSPROT:P49810 ; xref: REACTOME:P49810 ; xref: ENSEMBL:ENSG00000143801] OMIM:613697 Gene [OrphaNum:159192 ; Name:Actinin, alpha 2 ; Symbol:ACTN2 ; xref: ENSEMBL:ENSG00000077522 ; xref: GENATLAS:ACTN2 ; xref: HGNC:164 ; xref: OMIM:102573 ; xref: UNIPROTKB/SWISSPROT:P35609 ; xref: REACTOME:P35609] OMIM:613694 OMIM:611615 Gene [OrphaNum:121193 ; Name:Desmoglein 2 ; Symbol:DSG2 ; xref: GENATLAS:DSG2 ; xref: HGNC:3049 ; xref: OMIM:125671 ; xref: UNIPROTKB/SWISSPROT:Q14126 ; xref: REACTOME:Q14126 ; xref: ENSEMBL:ENSG00000046604] OMIM:613424 OMIM:613426 OMIM:613122 OMIM:611407 OMIM:612877 Gene [OrphaNum:117753 ; Name:Actin, alpha, cardiac muscle 1 ; Symbol:ACTC1 ; xref: GENATLAS:ACTC1 ; xref: HGNC:143 ; xref: OMIM:102540 ; xref: UNIPROTKB/SWISSPROT:P68032 ; xref: ENSEMBL:ENSG00000159251 ; xref: REACTOME:P68032] OMIM:606685 Gene [OrphaNum:121053 ; Name:Desmin ; Symbol:DES ; xref: GENATLAS:DES ; xref: HGNC:2770 ; xref: OMIM:125660 ; xref: UNIPROTKB/SWISSPROT:P17661 ; xref: REACTOME:P17661 ; xref: ENSEMBL:ENSG00000175084] Gene [OrphaNum:120860 ; Name:Cysteine and glycine-rich protein 3 (cardiac LIM protein) ; Symbol:CSRP3 ; xref: GENATLAS:CSRP3 ; xref: HGNC:2472 ; xref: OMIM:600824 ; xref: UNIPROTKB/SWISSPROT:P50461 ; xref: ENSEMBL:ENSG00000129170] Gene [OrphaNum:118658 ; Name:Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) ; Symbol:SGCD ; xref: GENATLAS:SGCD ; xref: HGNC:10807 ; xref: OMIM:601411 ; xref: UNIPROTKB/SWISSPROT:Q92629 ; xref: ENSEMBL:ENSG00000170624] OMIM:604145 OMIM:613642 OMIM:601494 OMIM:302045 OMIM:601493 Familial or idiopathic dilated cardiomyopathy OMIM:604288 Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] Gene [OrphaNum:123595 ; Name:Myosin binding protein C, cardiac ; Symbol:MYBPC3 ; xref: GENATLAS:MYBPC3 ; xref: HGNC:7551 ; xref: OMIM:600958 ; xref: UNIPROTKB/SWISSPROT:Q14896 ; xref: ENSEMBL:ENSG00000134571 ; xref: REACTOME:Q14896] OMIM:607487 Gene [OrphaNum:201494 ; Name:BCL2-associated athanogene 3 ; Symbol:BAG3 ; xref: ENSEMBL:ENSG00000151929 ; xref: GENATLAS:BAG3 ; xref: HGNC:939 ; xref: OMIM:603883 ; xref: UNIPROTKB/SWISSPROT:O95817] OMIM:605582 OMIM:604765 OMIM:601154 OMIM:613881 Gene [OrphaNum:119971 ; Name:Titin-cap (telethonin) ; Symbol:TCAP ; xref: GENATLAS:TCAP ; xref: HGNC:11610 ; xref: OMIM:604488 ; xref: UNIPROTKB/SWISSPROT:O15273 ; xref: REACTOME:O15273 ; xref: ENSEMBL:ENSG00000173991] Gene [OrphaNum:121775 ; Name:Fukutin ; Symbol:FKTN ; xref: GENATLAS:FKTN ; xref: HGNC:3622 ; xref: OMIM:607440 ; xref: UNIPROTKB/SWISSPROT:O75072 ; xref: ENSEMBL:ENSG00000106692] OMIM:611878 OMIM:611879 OMIM:614672 Gene [OrphaNum:117673 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 9 ; Symbol:ABCC9 ; xref: GENATLAS:ABCC9 ; xref: HGNC:60 ; xref: OMIM:601439 ; xref: UNIPROTKB/SWISSPROT:O60706 ; xref: ENSEMBL:ENSG00000069431 ; xref: REACTOME:O60706] Gene [OrphaNum:123010 ; Name:LIM domain binding 3 ; Symbol:LDB3 ; xref: GENATLAS:LDB3 ; xref: HGNC:15710 ; xref: OMIM:605906 ; xref: UNIPROTKB/SWISSPROT:O75112 ; xref: ENSEMBL:ENSG00000122367] OMIM:600884 Gene [OrphaNum:304455 ; Name:GATA zinc finger domain containing 1 ; Symbol:GATAD1 ; xref: HGNC:29941 ; xref: OMIM:614518 ; xref: GENATLAS:GATAD1 ; xref: UNIPROTKB/SWISSPROT:Q8WUU5] OMIM:613740 Gene [OrphaNum:119930 ; Name:Tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ; Symbol:TAZ ; xref: GENATLAS:TAZ ; xref: HGNC:11577 ; xref: OMIM:300394 ; xref: UNIPROTKB/SWISSPROT:Q16635 ; xref: ENSEMBL:ENSG00000102125 ; xref: REACTOME:Q16635] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 Gene [OrphaNum:286619 ; Name:Thioredoxin reductase 2 ; Symbol:TXNRD2 ; xref: ENSEMBL:ENSG00000184470 ; xref: HGNC:18155 ; xref: OMIM:606448 ; xref: GENATLAS:TXNRD2 ; xref: UNIPROTKB/SWISSPROT:Q9NNW7] Gene [OrphaNum:159042 ; Name:Thymopoietin ; Symbol:TMPO ; xref: GENATLAS:TMPO ; xref: HGNC:11875 ; xref: OMIM:188380 ; xref: UNIPROTKB/SWISSPROT:P42166 ; xref: ENSEMBL:ENSG00000120802] Gene [OrphaNum:120190 ; Name:Troponin T type 2 (cardiac) ; Symbol:TNNT2 ; xref: GENATLAS:TNNT2 ; xref: HGNC:11949 ; xref: OMIM:191045 ; xref: UNIPROTKB/SWISSPROT:P45379 ; xref: ENSEMBL:ENSG00000118194 ; xref: REACTOME:P45379] OMIM:607482 OMIM:612158 OMIM:609909 Gene [OrphaNum:123619 ; Name:Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) ; Symbol:MYH6 ; xref: REACTOME:P13533 ; xref: GENATLAS:MYH6 ; xref: HGNC:7576 ; xref: OMIM:160710 ; xref: UNIPROTKB/SWISSPROT:P13533 ; xref: ENSEMBL:ENSG00000197616] OMIM:611880 OMIM:613286 Gene [OrphaNum:160331 ; Name:Phospholamban ; Symbol:PLN ; xref: ENSEMBL:ENSG00000198523 ; xref: GENATLAS:PLN ; xref: HGNC:9080 ; xref: OMIM:172405 ; xref: UNIPROTKB/SWISSPROT:P26678] OMIM:608569 Gene [OrphaNum:159055 ; Name:Troponin C type 1 (slow) ; Symbol:TNNC1 ; xref: GENATLAS:TNNC1 ; xref: HGNC:11943 ; xref: OMIM:191040 ; xref: UNIPROTKB/SWISSPROT:P63316 ; xref: REACTOME:P63316 ; xref: ENSEMBL:ENSG00000114854] Gene [OrphaNum:123621 ; Name:Myosin, heavy chain 7, cardiac muscle, beta ; Symbol:MYH7 ; xref: ENSEMBL:ENSG00000092054 ; xref: GENATLAS:MYH7 ; xref: HGNC:7577 ; xref: OMIM:160760 ; xref: UNIPROTKB/SWISSPROT:P12883] EXACT Familial or idiopathic dilated cardiomyopathy Charcot-Marie-Tooth disease Orphanet ID- 637 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Cockayne syndrome OMIM:214150 OMIM:278780 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 OMIM:133540 OMIM:216400 ICD10:Q87.1 Orphanet ID- 638 OMIM:216411 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; OMIM:610758 OMIM:610756 MERRF syndrome Fukuhara syndrome Myoclonus epilepsy associated with ragged-red fibers Gene [OrphaNum:123562 ; Name:Mitochondrially encoded NADH dehydrogenase 5 ; Symbol:MT-ND5 ; xref: GENATLAS:MT-ND5 ; xref: HGNC:7461 ; xref: OMIM:516005 ; xref: UNIPROTKB/SWISSPROT:P03915 ; xref: ENSEMBL:ENSG00000198786 ; xref: REACTOME:P03915] Gene [OrphaNum:138906 ; Name:Mitochondrially encoded tRNA glutamine ; Symbol:MT-TQ ; xref: OMIM:590030 ; xref: GENATLAS:MT-TQ ; xref: HGNC:7495] Gene [OrphaNum:205934 ; Name:Mitochondrially encoded tRNA proline ; Symbol:MT-TP ; xref: GENATLAS:MT-TP ; xref: HGNC:7494 ; xref: OMIM:590075] Gene [OrphaNum:138902 ; Name:Mitochondrially encoded 12S RNA ; Symbol:MT-RNR1 ; xref: GENATLAS:MT-RNR1 ; xref: HGNC:7470 ; xref: OMIM:561000] Gene [OrphaNum:138895 ; Name:Mitochondrially encoded tRNA leucine 1 (UUA/G) ; Symbol:MT-TL1 ; xref: GENATLAS:MT-TL1 ; xref: HGNC:7490 ; xref: OMIM:590050] Gene [OrphaNum:138900 ; Name:Mitochondrially encoded tRNA lysine ; Symbol:MT-TK ; xref: GENATLAS:MT-TK ; xref: HGNC:7489 ; xref: OMIM:590060] Gene [OrphaNum:167905 ; Name:Mitochondrially encoded tRNA serine 2 (AGU/C) ; Symbol:MT-TS2 ; xref: GENATLAS:MT-TS2 ; xref: HGNC:7498 ; xref: OMIM:590085] Myoclonus epilepsy associated with ragged-red fibers Orphanet ID- 64 Gene [OrphaNum:166766 ; Name:Mitochondrially encoded tRNA histidine ; Symbol:MT-TH ; xref: GENATLAS:MT-TH ; xref: HGNC:7487 ; xref: OMIM:590040] Fukuhara syndrome Gene [OrphaNum:167901 ; Name:Mitochondrially encoded tRNA serine 1 (UCN) ; Symbol:MT-TS1 ; xref: GENATLAS:MT-TS1 ; xref: HGNC:7497 ; xref: OMIM:590080] OMIM:545000 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Mitochondrial inheritance; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 ICD10:G40.3 Gene [OrphaNum:167909 ; Name:Mitochondrially encoded tRNA phenylalanine ; Symbol:MT-TF ; xref: GENATLAS:MT-TF ; xref: HGNC:7481 ; xref: OMIM:590070] EXACT Fukuhara syndrome EXACT Myoclonus epilepsy associated with ragged-red fibers Epidermolytic epidermolysis bullosa EBS Epidermolysis bullosa simplex ICD10:Q81.0 Orphanet ID- 641 EBS Epidermolysis bullosa simplex prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304 EXACT EBS EXACT Epidermolysis bullosa simplex GM1 gangliosidosis Beta-galactosidase-1 deficiency GLB1 deficiency Landing disease Beta-galactosidase-1 deficiency OMIM:230650 Landing disease GLB1 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 OMIM:230600 OMIM:230500 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E75.1 Orphanet ID- 643 EXACT Landing disease EXACT GLB1 deficiency EXACT Beta-galactosidase-1 deficiency Gaucher disease Acid beta-glucosidase deficiency Glucocerebrosidase deficiency true prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Acid beta-glucosidase deficiency Glucocerebrosidase deficiency ICD10:E75.2 Orphanet ID- 644 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355 EXACT Acid beta-glucosidase deficiency EXACT Glucocerebrosidase deficiency Glycogenosis due to glucose-6-phosphatase deficiency G6P deficiency GSD due to G6P deficiency GSD type 1 GSDI Glycogen storage disease due to G6P deficiency Glycogen storage disease type 1 Hepatorenal glycogenosis Type 1 glycogenosis Von Gierke disease Type 1 glycogenosis G6P deficiency GSD due to G6P deficiency Von Gierke disease Hepatorenal glycogenosis GSD type 1 Glycogen storage disease due to G6P deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:E74.0 Orphanet ID- 645 OMIM:232200 GSDI Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 OMIM:232240 OMIM:232220 Glycogen storage disease type 1 EXACT Type 1 glycogenosis EXACT Glycogen storage disease due to G6P deficiency EXACT G6P deficiency EXACT Hepatorenal glycogenosis EXACT Von Gierke disease EXACT Glycogen storage disease type 1 EXACT GSDI EXACT GSD due to G6P deficiency EXACT GSD type 1 Hemophilia prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; OMIM:134510 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448 Orphanet ID- 646 ICD10:D66 ICD10:D67 OMIM:134520 OMIM:134540 Hirschsprung disease true OMIM:613711 OMIM:606874 OMIM:606875 Gene [OrphaNum:123934 ; Name:Neurturin ; Symbol:NRTN ; xref: GENATLAS:NRTN ; xref: HGNC:8007 ; xref: OMIM:602018 ; xref: UNIPROTKB/SWISSPROT:Q99748 ; xref: ENSEMBL:ENSG00000171119 ; xref: REACTOME:Q99748] prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Multigenic/multifactorial; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 OMIM:613712 OMIM:600155 OMIM:608462 Gene [OrphaNum:118274 ; Name:Ret proto-oncogene ; Symbol:RET ; xref: GENATLAS:RET ; xref: HGNC:9967 ; xref: OMIM:164761 ; xref: UNIPROTKB/SWISSPROT:P07949 ; xref: ENSEMBL:ENSG00000165731] ICD10:Q43.1 Orphanet ID- 647 OMIM:611644 Gene [OrphaNum:122948 ; Name:L1 cell adhesion molecule ; Symbol:L1CAM ; xref: GENATLAS:L1CAM ; xref: HGNC:6470 ; xref: OMIM:308840 ; xref: UNIPROTKB/SWISSPROT:P32004 ; xref: ENSEMBL:ENSG00000198910 ; xref: REACTOME:P32004] Gene [OrphaNum:121255 ; Name:Endothelin converting enzyme 1 ; Symbol:ECE1 ; xref: GENATLAS:ECE1 ; xref: HGNC:3146 ; xref: OMIM:600423 ; xref: UNIPROTKB/SWISSPROT:P42892 ; xref: ENSEMBL:ENSG00000117298] Gene [OrphaNum:121287 ; Name:Endothelin receptor type B ; Symbol:EDNRB ; xref: GENATLAS:EDNRB ; xref: HGNC:3180 ; xref: OMIM:131244 ; xref: UNIPROTKB/SWISSPROT:P24530 ; xref: ENSEMBL:ENSG00000136160 ; xref: IUPHAR:220 ; xref: REACTOME:P24530] Gene [OrphaNum:122076 ; Name:Glial cell derived neurotrophic factor ; Symbol:GDNF ; xref: GENATLAS:GDNF ; xref: HGNC:4232 ; xref: OMIM:600837 ; xref: UNIPROTKB/SWISSPROT:P39905 ; xref: ENSEMBL:ENSG00000168621 ; xref: REACTOME:P39905] OMIM:600156 Gene [OrphaNum:121284 ; Name:Endothelin 3 ; Symbol:EDN3 ; xref: GENATLAS:EDN3 ; xref: HGNC:3178 ; xref: OMIM:131242 ; xref: UNIPROTKB/SWISSPROT:P14138 ; xref: ENSEMBL:ENSG00000124205 ; xref: REACTOME:P14138] OMIM:142623 Congenital adrenal hyperplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 648 ICD10:E25.0 OMIM:145295 Malignant hyperthermia Hyperthermia of anesthesia Malignant hyperpyrexia Pharmacogenetic myopathy of anesthesia Malignant hyperpyrexia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 OMIM:601887 OMIM:601888 Gene [OrphaNum:118437 ; Name:Ryanodine receptor 1 (skeletal) ; Symbol:RYR1 ; xref: UNIPROTKB/SWISSPROT:P21817 ; xref: GENATLAS:RYR1 ; xref: HGNC:10483 ; xref: OMIM:180901 ; xref: ENSEMBL:ENSG00000196218] Hyperthermia of anesthesia ICD10:T88.3 Pharmacogenetic myopathy of anesthesia OMIM:600467 Orphanet ID- 649 OMIM:154275 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:154276 OMIM:145600 Gene [OrphaNum:119157 ; Name:Calcium channel, voltage-dependent, L type, alpha 1S subunit ; Symbol:CACNA1S ; xref: OMIM:114208 ; xref: UNIPROTKB/SWISSPROT:Q13698 ; xref: GENATLAS:CACNA1S ; xref: HGNC:1397 ; xref: REACTOME:Q13698 ; xref: IUPHAR:528 ; xref: ENSEMBL:ENSG00000081248] EXACT Malignant hyperpyrexia EXACT Hyperthermia of anesthesia EXACT Pharmacogenetic myopathy of anesthesia central core disease central core myopathy Central core myopathy, is an autosomal dominant congenital myopathy (inborn muscle disorder) which presents commonly with hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation. Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; MSH:D020512 ICD10:G71.2 derived from wikipedia http://en.wikipedia.org/wiki/Central_core_disease Orphanet ID- 65 OMIM:117000 Gene [OrphaNum:118437 ; Name:Ryanodine receptor 1 (skeletal) ; Symbol:RYR1 ; xref: UNIPROTKB/SWISSPROT:P21817 ; xref: GENATLAS:RYR1 ; xref: HGNC:10483 ; xref: OMIM:180901 ; xref: ENSEMBL:ENSG00000196218] DOID:3529 James Malone Neuronal ceroid lipofuscinosis NCL Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 Orphanet ID- 650 NCL ICD10:E75.4 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT NCL Yellow nail syndrome Lymphedema with yellow nails Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; ICD10:L60.5 Orphanet ID- 6520 OMIM:153300 Gene [OrphaNum:121891 ; Name:Forkhead box C2 (MFH-1, mesenchyme forkhead 1) ; Symbol:FOXC2 ; xref: GENATLAS:FOXC2 ; xref: HGNC:3801 ; xref: OMIM:602402 ; xref: UNIPROTKB/SWISSPROT:Q99958 ; xref: ENSEMBL:ENSG00000176692] Lymphedema with yellow nails EXACT Lymphedema with yellow nails Mucopolysaccharidosis type 3 MPS III Mucopolysaccharidosis type III Sanfilippo disease MPS III ICD10:E76.2 OMIM:252930 OMIM:252940 Orphanet ID- 653 OMIM:252920 OMIM:252900 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 Sanfilippo disease Mucopolysaccharidosis type III EXACT Mucopolysaccharidosis type III EXACT Sanfilippo disease EXACT MPS III Osteogenesis imperfecta Brittle bone disease Glass bone disease Lobstein disease OI Osteopsathyrosis Porak and Durante disease Brittle bone disease Osteopsathyrosis prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Lobstein disease Porak and Durante disease ICD10:Q78.0 Orphanet ID- 654 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 Glass bone disease OI EXACT Lobstein disease EXACT Osteopsathyrosis EXACT Porak and Durante disease EXACT Brittle bone disease EXACT OI EXACT Glass bone disease Familial spastic paraplegia SPG Spastic paraparesis Strumpell-Lorrain disease ICD10:G11.4 Spastic paraparesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 SPG prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Strumpell-Lorrain disease Orphanet ID- 655 EXACT Spastic paraparesis EXACT Strumpell-Lorrain disease EXACT SPG Pelizaeus-Merzbacher disease Diffuse familial brain sclerosis PMD Pelizaeus-Merzbacher brain sclerosis Sudanophilic leukodystrophy, Paelizeus-Merzbacher type OMIM:612233 ICD10:E75.2 OMIM:213900 OMIM:612438 Pelizaeus-Merzbacher brain sclerosis Orphanet ID- 656 OMIM:608804 Diffuse familial brain sclerosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 PMD OMIM:312080 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked dominant; Inheritance- X-linked recessive; Sudanophilic leukodystrophy, Paelizeus-Merzbacher type EXACT Pelizaeus-Merzbacher brain sclerosis EXACT Sudanophilic leukodystrophy, Paelizeus-Merzbacher type EXACT Diffuse familial brain sclerosis EXACT PMD Porphyria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 Orphanet ID- 657 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial long QT syndrome Congenital long QT syndrome prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 ICD10:I45.8 Congenital long QT syndrome Orphanet ID- 658 inherited long QT syndrome EXACT Congenital long QT syndrome Retinitis pigmentosa Gene [OrphaNum:159443 ; Name:Topoisomerase I binding, arginine/serine-rich ; Symbol:TOPORS ; xref: GENATLAS:TOPORS ; xref: HGNC:21653 ; xref: OMIM:609507 ; xref: UNIPROTKB/SWISSPROT:Q9NS56 ; xref: ENSEMBL:ENSG00000197579] OMIM:601414 OMIM:613861 OMIM:613862 Gene [OrphaNum:259361 ; Name:dehydrodolichyl diphosphate synthase ; Symbol:DHDDS ; xref: ENSEMBL:ENSG00000117682 ; xref: HGNC:20603 ; xref: GENATLAS:DHDDS ; xref: UNIPROTKB/SWISSPROT:Q86SQ9 ; xref: OMIM:608172] OMIM:612943 OMIM:300605 OMIM:180210 OMIM:610359 Gene [OrphaNum:178826 ; Name:Spermatogenesis associated 7 ; Symbol:SPATA7 ; xref: GENATLAS:SPATA7 ; xref: HGNC:20423 ; xref: OMIM:609868 ; xref: UNIPROTKB/SWISSPROT:Q9P0W8 ; xref: ENSEMBL:ENSG00000042317] Gene [OrphaNum:176228 ; Name:Isocitrate dehydrogenase 3 (NAD+) beta ; Symbol:IDH3B ; xref: ENSEMBL:ENSG00000101365 ; xref: GENATLAS:IDH3B ; xref: HGNC:5385 ; xref: OMIM:604526 ; xref: UNIPROTKB/SWISSPROT:O43837 ; xref: REACTOME:O43837] Gene [OrphaNum:158388 ; Name:Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ; Symbol:SEMA4A ; xref: REACTOME:Q9H3S1 ; xref: GENATLAS:SEMA4A ; xref: HGNC:10729 ; xref: OMIM:607292 ; xref: UNIPROTKB/SWISSPROT:Q9H3S1 ; xref: ENSEMBL:ENSG00000196189] Gene [OrphaNum:120822 ; Name:Cone-rod homeobox ; Symbol:CRX ; xref: GENATLAS:CRX ; xref: HGNC:2383 ; xref: OMIM:602225 ; xref: UNIPROTKB/SWISSPROT:O43186 ; xref: ENSEMBL:ENSG00000105392] Gene [OrphaNum:118070 ; Name:Peripherin 2 (retinal degeneration, slow) ; Symbol:PRPH2 ; xref: GENATLAS:PRPH2 ; xref: HGNC:9942 ; xref: OMIM:179605 ; xref: UNIPROTKB/SWISSPROT:P23942 ; xref: ENSEMBL:ENSG00000112619] OMIM:400004 OMIM:608133 Gene [OrphaNum:201095 ; Name:Guanylate cyclase activator 1B (retina) ; Symbol:GUCA1B ; xref: GENATLAS:GUCA1B ; xref: HGNC:4679 ; xref: OMIM:602275 ; xref: UNIPROTKB/SWISSPROT:Q9UMX6 ; xref: ENSEMBL:ENSG00000112599] Gene [OrphaNum:119559 ; Name:Aryl hydrocarbon receptor interacting protein-like 1 ; Symbol:AIPL1 ; xref: GENATLAS:AIPL1 ; xref: HGNC:359 ; xref: OMIM:604392 ; xref: UNIPROTKB/SWISSPROT:Q9NZN9 ; xref: ENSEMBL:ENSG00000129221] OMIM:268060 Gene [OrphaNum:159821 ; Name:Prominin 1 ; Symbol:PROM1 ; xref: ENSEMBL:ENSG00000007062 ; xref: GENATLAS:PROM1 ; xref: HGNC:9454 ; xref: OMIM:604365 ; xref: UNIPROTKB/SWISSPROT:O43490] OMIM:604393 OMIM:613731 Gene [OrphaNum:123930 ; Name:Neural retina leucine zipper ; Symbol:NRL ; xref: GENATLAS:NRL ; xref: HGNC:8002 ; xref: OMIM:162080 ; xref: UNIPROTKB/SWISSPROT:P54845 ; xref: ENSEMBL:ENSG00000129535] Gene [OrphaNum:118295 ; Name:Retinal G protein coupled receptor ; Symbol:RGR ; xref: GENATLAS:RGR ; xref: HGNC:9990 ; xref: OMIM:600342 ; xref: UNIPROTKB/SWISSPROT:P47804 ; xref: ENSEMBL:ENSG00000148604 ; xref: REACTOME:P47804] Gene [OrphaNum:120653 ; Name:Clarin 1 ; Symbol:CLRN1 ; xref: GENATLAS:CLRN1 ; xref: HGNC:12605 ; xref: OMIM:606397 ; xref: UNIPROTKB/SWISSPROT:P58418 ; xref: ENSEMBL:ENSG00000163646] OMIM:300155 Gene [OrphaNum:288959 ; Name:Retinol binding protein 3, interstitial ; Symbol:RBP3 ; xref: GENATLAS:RBP3 ; xref: GENATLAS:P10745 ; xref: ENSEMBL:ENSG00000107618 ; xref: OMIM:180290 ; xref: HGNC:9921] Gene [OrphaNum:201546 ; Name:Kelch-like 7 (Drosophila) ; Symbol:KLHL7 ; xref: ENSEMBL:ENSG00000122550 ; xref: GENATLAS:KLHL7 ; xref: HGNC:15646 ; xref: OMIM:611119 ; xref: UNIPROTKB/SWISSPROT:Q8IXQ5] Gene [OrphaNum:288971 ; Name:Chromosome 8 open reading frame 37 ; Symbol:C8ORF37 ; xref: ENSEMBL:ENSG00000156172 ; xref: UNIPROTKB/SWISSPROT:Q96NL8 ; xref: HGNC:27232 ; xref: OMIM:614477 ; xref: GENATLAS:C8orf37] OMIM:613464 OMIM:600724 Gene [OrphaNum:120664 ; Name:Cyclic nucleotide gated channel alpha 1 ; Symbol:CNGA1 ; xref: GENATLAS:CNGA1 ; xref: HGNC:2148 ; xref: OMIM:123825 ; xref: UNIPROTKB/SWISSPROT:P29973 ; xref: IUPHAR:394 ; xref: ENSEMBL:ENSG00000198515] prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Mitochondrial inheritance; Inheritance- X-linked recessive; OMIM:614500 Gene [OrphaNum:118061 ; Name:PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) ; Symbol:PRPF31 ; xref: GENATLAS:PRPF31 ; xref: HGNC:15446 ; xref: OMIM:606419 ; xref: UNIPROTKB/SWISSPROT:Q8WWY3 ; xref: ENSEMBL:ENSG00000105618] Gene [OrphaNum:119122 ; Name:Carbonic anhydrase IV ; Symbol:CA4 ; xref: GENATLAS:CA4 ; xref: HGNC:1375 ; xref: OMIM:114760 ; xref: UNIPROTKB/SWISSPROT:P22748 ; xref: ENSEMBL:ENSG00000167434] Gene [OrphaNum:120341 ; Name:Tubby like protein 1 ; Symbol:TULP1 ; xref: GENATLAS:TULP1 ; xref: HGNC:12423 ; xref: OMIM:602280 ; xref: UNIPROTKB/SWISSPROT:O00294 ; xref: ENSEMBL:ENSG00000112041] Gene [OrphaNum:159434 ; Name:Cyclic nucleotide gated channel beta 1 ; Symbol:CNGB1 ; xref: GENATLAS:CNGB1 ; xref: HGNC:2151 ; xref: OMIM:600724 ; xref: UNIPROTKB/SWISSPROT:Q14028 ; xref: IUPHAR:398 ; xref: ENSEMBL:ENSG00000070729] OMIM:614180 OMIM:614181 Gene [OrphaNum:118370 ; Name:Retinitis pigmentosa 2 (X-linked recessive) ; Symbol:RP2 ; xref: GENATLAS:RP2 ; xref: HGNC:10274 ; xref: OMIM:300757 ; xref: UNIPROTKB/SWISSPROT:O75695 ; xref: ENSEMBL:ENSG00000102218] OMIM:300424 OMIM:312600 Gene [OrphaNum:233016 ; Name:Chromosome 2 open reading frame 71 ; Symbol:C2ORF71 ; xref: GENATLAS:C2orf71 ; xref: OMIM:613425 ; xref: ENSEMBL:ENSG00000179270 ; xref: HGNC:34383 ; xref: UNIPROTKB/SWISSPROT:A6NGG8] OMIM:162080 OMIM:300029 Gene [OrphaNum:117992 ; Name:Progressive rod-cone degeneration ; Symbol:PRCD ; xref: GENATLAS:PRCD ; xref: HGNC:32528 ; xref: OMIM:610598 ; xref: UNIPROTKB/SWISSPROT:Q00LT1 ; xref: ENSEMBL:ENSG00000214140] OMIM:604232 OMIM:180100 Gene [OrphaNum:123912 ; Name:Nuclear receptor subfamily 2, group E, member 3 ; Symbol:NR2E3 ; xref: REACTOME:Q9Y5X4 ; xref: GENATLAS:NR2E3 ; xref: HGNC:7974 ; xref: OMIM:604485 ; xref: UNIPROTKB/SWISSPROT:Q9Y5X4 ; xref: IUPHAR:616 ; xref: ENSEMBL:ENSG00000031544] OMIM:613750 OMIM:612165 OMIM:600132 Gene [OrphaNum:274231 ; Name:male germ cell-associated kinase ; Symbol:MAK ; xref: OMIM:154235 ; xref: HGNC:6816 ; xref: GENATLAS:MAK ; xref: UNIPROTKB/SWISSPROT:P20794 ; xref: ENSEMBL:ENSG00000111837] OMIM:613756 Gene [OrphaNum:239001 ; Name:Interphotoreceptor matrix proteoglycan 2 ; Symbol:IMPG2 ; xref: ENSEMBL:ENSG00000081148 ; xref: HGNC:18362 ; xref: OMIM:607056 ; xref: GENATLAS:IMPG2 ; xref: UNIPROTKB/SWISSPROT:Q9BZV3] OMIM:180104 Gene [OrphaNum:119354 ; Name:Ceramide kinase-like ; Symbol:CERKL ; xref: GENATLAS:CERKL ; xref: HGNC:21699 ; xref: OMIM:608381 ; xref: UNIPROTKB/SWISSPROT:Q49MI3 ; xref: ENSEMBL:ENSG00000188452] OMIM:180105 OMIM:600138 OMIM:613341 OMIM:600342 Gene [OrphaNum:118056 ; Name:PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) ; Symbol:PRPF3 ; xref: GENATLAS:PRPF3 ; xref: HGNC:17348 ; xref: OMIM:607301 ; xref: UNIPROTKB/SWISSPROT:O43395 ; xref: ENSEMBL:ENSG00000117360] OMIM:612095 OMIM:268000 Orphanet ID- 659 Gene [OrphaNum:120447 ; Name:Usher syndrome 2A (autosomal recessive, mild) ; Symbol:USH2A ; xref: GENATLAS:USH2A ; xref: HGNC:12601 ; xref: OMIM:608400 ; xref: UNIPROTKB/SWISSPROT:O75445 ; xref: ENSEMBL:ENSG00000042781] Gene [OrphaNum:118381 ; Name:Retinitis pigmentosa GTPase regulator ; Symbol:RPGR ; xref: GENATLAS:RPGR ; xref: HGNC:10295 ; xref: OMIM:312610 ; xref: UNIPROTKB/SWISSPROT:Q92834 ; xref: ENSEMBL:ENSG00000156313] OMIM:602594 OMIM:312612 Gene [OrphaNum:239967 ; Name:Zinc finger protein 513 ; Symbol:ZNF513 ; xref: ENSEMBL:ENSG00000163795 ; xref: OMIM:613598 ; xref: GENATLAS:ZNF513 ; xref: HGNC:26498 ; xref: UNIPROTKB/SWISSPROT:Q8N8E2] Gene [OrphaNum:120803 ; Name:Crumbs homolog 1 (Drosophila) ; Symbol:CRB1 ; xref: GENATLAS:CRB1 ; xref: HGNC:2343 ; xref: OMIM:604210 ; xref: UNIPROTKB/SWISSPROT:P82279 ; xref: ENSEMBL:ENSG00000134376] Gene [OrphaNum:124146 ; Name:Phosphodiesterase 6A, cGMP-specific, rod, alpha ; Symbol:PDE6A ; xref: GENATLAS:PDE6A ; xref: HGNC:8785 ; xref: OMIM:180071 ; xref: UNIPROTKB/SWISSPROT:P16499 ; xref: REACTOME:P16499 ; xref: ENSEMBL:ENSG00000132915] OMIM:613617 OMIM:611131 Gene [OrphaNum:239962 ; Name:Family with sequence similarity 161, member A ; Symbol:FAM161A ; xref: OMIM:613596 ; xref: GENATLAS:FAM161A ; xref: HGNC:25808 ; xref: UNIPROTKB/SWISSPROT:Q3B820 ; xref: ENSEMBL:ENSG00000170264] Gene [OrphaNum:119029 ; Name:Bestrophin 1 ; Symbol:BEST1 ; xref: OMIM:607854 ; xref: UNIPROTKB/SWISSPROT:O76090 ; xref: GENATLAS:BEST1 ; xref: HGNC:12703 ; xref: ENSEMBL:ENSG00000167995] Gene [OrphaNum:121938 ; Name:Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) ; Symbol:FSCN2 ; xref: GENATLAS:FSCN2 ; xref: HGNC:3960 ; xref: OMIM:607643 ; xref: UNIPROTKB/SWISSPROT:O14926 ; xref: ENSEMBL:ENSG00000186765] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 OMIM:604705 Gene [OrphaNum:118315 ; Name:Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) ; Symbol:RHO ; xref: GENATLAS:RHO ; xref: HGNC:10012 ; xref: OMIM:180380 ; xref: UNIPROTKB/SWISSPROT:P08100 ; xref: REACTOME:P08100 ; xref: ENSEMBL:ENSG00000163914] Gene [OrphaNum:123198 ; Name:C-mer proto-oncogene tyrosine kinase ; Symbol:MERTK ; xref: GENATLAS:MERTK ; xref: HGNC:7027 ; xref: OMIM:604705 ; xref: UNIPROTKB/SWISSPROT:Q12866 ; xref: ENSEMBL:ENSG00000153208 ; xref: REACTOME:Q12866] Gene [OrphaNum:118066 ; Name:PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) ; Symbol:PRPF8 ; xref: GENATLAS:PRPF8 ; xref: HGNC:17340 ; xref: OMIM:607300 ; xref: UNIPROTKB/SWISSPROT:Q6P2Q9 ; xref: ENSEMBL:ENSG00000174231 ; xref: REACTOME:Q6P2Q9] Gene [OrphaNum:118367 ; Name:Retinitis pigmentosa 1 (autosomal dominant) ; Symbol:RP1 ; xref: GENATLAS:RP1 ; xref: HGNC:10263 ; xref: OMIM:603937 ; xref: UNIPROTKB/SWISSPROT:P56715 ; xref: ENSEMBL:ENSG00000104237] OMIM:268025 Gene [OrphaNum:168360 ; Name:Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) ; Symbol:LRAT ; xref: REACTOME:O95237 ; xref: GENATLAS:LRAT ; xref: HGNC:6685 ; xref: OMIM:604863 ; xref: UNIPROTKB/SWISSPROT:O95237 ; xref: ENSEMBL:ENSG00000121207] OMIM:607921 OMIM:602275 OMIM:613575 OMIM:609913 OMIM:602225 Gene [OrphaNum:118449 ; Name:S-antigen; retina and pineal gland (arrestin) ; Symbol:SAG ; xref: GENATLAS:SAG ; xref: HGNC:10521 ; xref: OMIM:181031 ; xref: UNIPROTKB/SWISSPROT:P10523 ; xref: ENSEMBL:ENSG00000130561] Gene [OrphaNum:221348 ; Name:Small nuclear ribonucleoprotein 200kDa (U5) ; Symbol:SNRNP200 ; xref: ENSEMBL:ENSG00000144028 ; xref: REACTOME:O75643 ; xref: GENATLAS:SNRNP200 ; xref: HGNC:30859 ; xref: OMIM:601664 ; xref: UNIPROTKB/SWISSPROT:O75643] Gene [OrphaNum:121421 ; Name:ADP-ribosylation factor-like 6 ; Symbol:ARL6 ; xref: GENATLAS:ARL6 ; xref: HGNC:13210 ; xref: OMIM:608845 ; xref: UNIPROTKB/SWISSPROT:Q9H0F7 ; xref: ENSEMBL:ENSG00000113966] OMIM:608380 OMIM:613827 Gene [OrphaNum:266150 ; Name:PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) ; Symbol:PRPF6 ; xref: ENSEMBL:ENSG00000101161 ; xref: REACTOME:O94906 ; xref: HGNC:15860 ; xref: OMIM:613979 ; xref: GENATLAS:PRPF6 ; xref: UNIPROTKB/SWISSPROT:O94906] OMIM:613194 OMIM:602772 Gene [OrphaNum:118250 ; Name:Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) ; Symbol:RDH12 ; xref: GENATLAS:RDH12 ; xref: HGNC:19977 ; xref: OMIM:608830 ; xref: UNIPROTKB/SWISSPROT:Q96NR8 ; xref: ENSEMBL:ENSG00000139988] OMIM:613428 OMIM:606068 OMIM:613983 OMIM:610599 OMIM:613582 OMIM:600105 Gene [OrphaNum:118326 ; Name:Retinaldehyde binding protein 1 ; Symbol:RLBP1 ; xref: GENATLAS:RLBP1 ; xref: HGNC:10024 ; xref: OMIM:180090 ; xref: UNIPROTKB/SWISSPROT:P12271 ; xref: ENSEMBL:ENSG00000140522] OMIM:613581 Gene [OrphaNum:122649 ; Name:IMP (inosine monophosphate) dehydrogenase 1 ; Symbol:IMPDH1 ; xref: GENATLAS:IMPDH1 ; xref: HGNC:6052 ; xref: OMIM:146690 ; xref: UNIPROTKB/SWISSPROT:P20839 ; xref: REACTOME:P20839 ; xref: ENSEMBL:ENSG00000106348] OMIM:609923 OMIM:613801 Gene [OrphaNum:117623 ; Name:ATP-binding cassette, sub-family A (ABC1), member 4 ; Symbol:ABCA4 ; xref: GENATLAS:ABCA4 ; xref: HGNC:34 ; xref: OMIM:601691 ; xref: UNIPROTKB/SWISSPROT:P78363 ; xref: REACTOME:P78363 ; xref: ENSEMBL:ENSG00000198691] OMIM:614494 OMIM:600059 OMIM:601718 Gene [OrphaNum:124149 ; Name:Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) ; Symbol:PDE6B ; xref: GENATLAS:PDE6B ; xref: HGNC:8786 ; xref: OMIM:180072 ; xref: UNIPROTKB/SWISSPROT:P35913 ; xref: ENSEMBL:ENSG00000133256 ; xref: REACTOME:P35913] Gene [OrphaNum:169936 ; Name:Eyes shut homolog (Drosophila) ; Symbol:EYS ; xref: GENATLAS:EYS ; xref: HGNC:21555 ; xref: OMIM:612424 ; xref: UNIPROTKB/SWISSPROT:Q6UY05 ; xref: ENSEMBL:ENSG00000188107] Gene [OrphaNum:118373 ; Name:Retinitis pigmentosa 9 (autosomal dominant) ; Symbol:RP9 ; xref: GENATLAS:RP9 ; xref: HGNC:10288 ; xref: OMIM:607331 ; xref: UNIPROTKB/SWISSPROT:Q8TA86 ; xref: ENSEMBL:ENSG00000164610] OMIM:612572 OMIM:613810 OMIM:613809 OMIM:610282 Gene [OrphaNum:120323 ; Name:Tetratricopeptide repeat domain 8 ; Symbol:TTC8 ; xref: GENATLAS:TTC8 ; xref: HGNC:20087 ; xref: OMIM:608132 ; xref: UNIPROTKB/SWISSPROT:Q8TAM2 ; xref: ENSEMBL:ENSG00000165533] Gene [OrphaNum:118376 ; Name:Retinal pigment epithelium-specific protein 65kDa ; Symbol:RPE65 ; xref: GENATLAS:RPE65 ; xref: HGNC:10294 ; xref: OMIM:180069 ; xref: UNIPROTKB/SWISSPROT:Q16518 ; xref: ENSEMBL:ENSG00000116745] OMIM:613794 ICD10:H35.5 Gene [OrphaNum:238998 ; Name:Phosphodiesterase 6G, cGMP-specific, rod, gamma ; Symbol:PDE6G ; xref: ENSEMBL:ENSG00000185527 ; xref: GENATLAS:PDE6G ; xref: HGNC:8789 ; xref: UNIPROTKB/SWISSPROT:P18545 ; xref: OMIM:180073 ; xref: REACTOME:P18545] OMIM:600852 Gene [OrphaNum:118358 ; Name:Retinal outer segment membrane protein 1 ; Symbol:ROM1 ; xref: GENATLAS:ROM1 ; xref: HGNC:10254 ; xref: OMIM:180721 ; xref: UNIPROTKB/SWISSPROT:Q03395 ; xref: ENSEMBL:ENSG00000149489] Nemaline myopathy NEM NM Nemaline rod myopathy NEM Gene [OrphaNum:258542 ; Name:kelch repeat and BTB (POZ) domain containing 13 ; Symbol:KBTBD13 ; xref: ENSEMBL:ENSG00000234438 ; xref: OMIM:613727 ; xref: HGNC:37227 ; xref: GENATLAS:KBTBD13 ; xref: UNIPROTKB/SWISSPROT:C9JR72] OMIM:256030 Orphanet ID- 66 OMIM:610687 OMIM:609285 OMIM:609284 ICD10:G71.2 NM OMIM:609273 Gene [OrphaNum:119377 ; Name:Cofilin 2 (muscle) ; Symbol:CFL2 ; xref: ENSEMBL:ENSG00000165410 ; xref: GENATLAS:CFL2 ; xref: HGNC:1875 ; xref: OMIM:601443 ; xref: UNIPROTKB/SWISSPROT:Q9Y281] prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607 Nemaline rod myopathy OMIM:161800 OMIM:605355 EXACT NM EXACT Nemaline rod myopathy EXACT NEM Tuberous sclerosis Bourneville syndrome Tuberous sclerosis complex ICD10:Q85.1 Orphanet ID- 660 Gene [OrphaNum:120309 ; Name:Tuberous sclerosis 1 ; Symbol:TSC1 ; xref: GENATLAS:TSC1 ; xref: HGNC:12362 ; xref: OMIM:605284 ; xref: UNIPROTKB/SWISSPROT:Q92574 ; xref: ENSEMBL:ENSG00000165699 ; xref: REACTOME:Q92574] Bourneville syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 OMIM:191100 Gene [OrphaNum:120315 ; Name:Tuberous sclerosis 2 ; Symbol:TSC2 ; xref: GENATLAS:TSC2 ; xref: HGNC:12363 ; xref: OMIM:191092 ; xref: UNIPROTKB/SWISSPROT:P49815 ; xref: ENSEMBL:ENSG00000103197 ; xref: REACTOME:P49815] Tuberous sclerosis complex OMIM:613254 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Tuberous sclerosis complex EXACT Bourneville syndrome Usher syndrome Retinitis pigmentosa - deafness USH prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 662 USH Retinitis pigmentosa - deafness Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 ICD10:H35.5 EXACT Retinitis pigmentosa - deafness EXACT USH Waardenburg syndrome ICD10:E70.3 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 Orphanet ID- 663 Oculopharyngeal muscular dystrophy OPMD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 OPMD ICD10:G71.0 Orphanet ID- 664 OMIM:164300 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:124051 ; Name:Poly(A) binding protein, nuclear 1 ; Symbol:PABPN1 ; xref: GENATLAS:PABPN1 ; xref: HGNC:8565 ; xref: OMIM:602279 ; xref: UNIPROTKB/SWISSPROT:Q86U42 ; xref: ENSEMBL:ENSG00000100836 ; xref: REACTOME:Q86U42] EXACT OPMD Primary ciliary dyskinesia Immotile cilia syndrome Gene [OrphaNum:268087 ; Name:dynein, axonemal, light chain 1 ; Symbol:DNAL1 ; xref: HGNC:23247 ; xref: ENSEMBL:ENSG00000119661 ; xref: OMIM:610062 ; xref: GENATLAS:DNAL1 ; xref: UNIPROTKB/SWISSPROT:Q4LDG9] Gene [OrphaNum:121143 ; Name:Dynein, axonemal, intermediate chain 1 ; Symbol:DNAI1 ; xref: GENATLAS:DNAI1 ; xref: HGNC:2954 ; xref: OMIM:604366 ; xref: UNIPROTKB/SWISSPROT:Q9UI46 ; xref: ENSEMBL:ENSG00000122735] Gene [OrphaNum:178077 ; Name:Radial spoke head 9 homolog (Chlamydomonas) ; Symbol:RSPH9 ; xref: GENATLAS:RSPH9 ; xref: HGNC:21057 ; xref: OMIM:612648 ; xref: UNIPROTKB/SWISSPROT:Q9H1X1 ; xref: ENSEMBL:ENSG00000172426] Gene [OrphaNum:296690 ; Name:Dynein, axonemal, assembly factor 3 ; Symbol:DNAAF3 ; xref: HGNC:30492 ; xref: UNIPROTKB/SWISSPROT:Q8N9W5 ; xref: GENATLAS:C19orf51 ; xref: OMIM:614566] Immotile cilia syndrome Gene [OrphaNum:218045 ; Name:Leucine rich repeat containing 50 ; Symbol:LRRC50 ; xref: ENSEMBL:ENSG00000154099 ; xref: GENATLAS:LRRC50 ; xref: HGNC:30539 ; xref: OMIM:613190 ; xref: UNIPROTKB/SWISSPROT:Q8NEP3] Gene [OrphaNum:246554 ; Name:Coiled-coil domain containing 40 ; Symbol:CCDC40 ; xref: OMIM:613799 ; xref: ENSEMBL:ENSG00000141519 ; xref: GENATLAS:CCDC40 ; xref: HGNC:26090 ; xref: UNIPROTKB/SWISSPROT:Q4G0X9] Gene [OrphaNum:169908 ; Name:Dynein, axonemal, intermediate chain 2 ; Symbol:DNAI2 ; xref: GENATLAS:DNAI2 ; xref: HGNC:18744 ; xref: OMIM:605483 ; xref: UNIPROTKB/SWISSPROT:Q9GZS0 ; xref: ENSEMBL:ENSG00000171595] OMIM:611884 Orphanet ID- 665 Gene [OrphaNum:178082 ; Name:Radial spoke head 4 homolog A (Chlamydomonas) ; Symbol:RSPH4A ; xref: GENATLAS:RSPH4A ; xref: HGNC:21558 ; xref: OMIM:612647 ; xref: UNIPROTKB/SWISSPROT:Q5TD94 ; xref: ENSEMBL:ENSG00000111834] Gene [OrphaNum:171068 ; Name:dynein, axonemal, assembly factor 2 ; Symbol:DNAAF2 ; xref: GENATLAS:C14orf104 ; xref: HGNC:20188 ; xref: OMIM:612517 ; xref: UNIPROTKB/SWISSPROT:Q9NVR5 ; xref: ENSEMBL:ENSG00000165506] OMIM:614679 OMIM:242670 OMIM:215520 OMIM:612650 OMIM:614017 OMIM:612518 Gene [OrphaNum:303726 ; Name:Coiled-coil domain containing 103 ; Symbol:CCDC103 ; xref: HGNC:32700 ; xref: OMIM:614677 ; xref: GENATLAS:CCDC103 ; xref: UNIPROTKB/SWISSPROT:Q8IW40] OMIM:613193 Gene [OrphaNum:121134 ; Name:Dynein, axonemal, heavy chain 11 ; Symbol:DNAH11 ; xref: GENATLAS:DNAH11 ; xref: HGNC:2942 ; xref: OMIM:603339 ; xref: UNIPROTKB/SWISSPROT:Q96DT5 ; xref: ENSEMBL:ENSG00000105877] Gene [OrphaNum:121137 ; Name:Dynein, axonemal, heavy chain 5 ; Symbol:DNAH5 ; xref: GENATLAS:DNAH5 ; xref: HGNC:2950 ; xref: OMIM:603335 ; xref: UNIPROTKB/SWISSPROT:Q8TE73 ; xref: ENSEMBL:ENSG00000039139] OMIM:606763 OMIM:610852 OMIM:242680 Gene [OrphaNum:138359 ; Name:Thioredoxin domain containing 3 (spermatozoa) ; Symbol:TXNDC3 ; xref: GENATLAS:TXNDC3 ; xref: HGNC:16473 ; xref: OMIM:607421 ; xref: UNIPROTKB/SWISSPROT:Q8N427 ; xref: ENSEMBL:ENSG00000086288] Gene [OrphaNum:123982 ; Name:Oral-facial-digital syndrome 1 ; Symbol:OFD1 ; xref: GENATLAS:OFD1 ; xref: HGNC:2567 ; xref: OMIM:300170 ; xref: UNIPROTKB/SWISSPROT:O75665 ; xref: REACTOME:O75665 ; xref: ENSEMBL:ENSG00000046651] ICD10:J98.0 OMIM:613807 Gene [OrphaNum:246552 ; Name:Coiled-coil domain containing 39 ; Symbol:CCDC39 ; xref: ENSEMBL:ENSG00000145075 ; xref: OMIM:613798 ; xref: UNIPROTKB/SWISSPROT:Q9UFE4 ; xref: GENATLAS:CCDC39 ; xref: HGNC:25244] OMIM:613808 OMIM:608644 OMIM:244400 OMIM:608646 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 OMIM:215518 OMIM:612274 OMIM:608647 OMIM:612649 Gene [OrphaNum:118381 ; Name:Retinitis pigmentosa GTPase regulator ; Symbol:RPGR ; xref: GENATLAS:RPGR ; xref: HGNC:10295 ; xref: OMIM:312610 ; xref: UNIPROTKB/SWISSPROT:Q92834 ; xref: ENSEMBL:ENSG00000156313] OMIM:612444 EXACT Immotile cilia syndrome Purine nucleoside phosphorylase deficiency PNP deficiency PNP deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:123864 ; Name:Purine nucleoside phosphorylase ; Symbol:PNP ; xref: GENATLAS:NP ; xref: HGNC:7892 ; xref: OMIM:164050 ; xref: UNIPROTKB/SWISSPROT:P00491 ; xref: ENSEMBL:ENSG00000198805 ; xref: REACTOME:P00491] ICD10:D81.5 Orphanet ID- 671 OMIM:613179 EXACT PNP deficiency Alpha-N-acetylgalactosaminidase deficiency NAGA deficiency Orphanet ID- 673 OMIM:609241 ICD10:E77.1 OMIM:609242 NAGA deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Gene [OrphaNum:123669 ; Name:N-acetylgalactosaminidase, alpha- ; Symbol:NAGA ; xref: GENATLAS:NAGA ; xref: HGNC:7631 ; xref: OMIM:104170 ; xref: UNIPROTKB/SWISSPROT:P17050 ; xref: ENSEMBL:ENSG00000198951] EXACT NAGA deficiency Fructose-1,6-bisphosphatase deficiency ICD10:E74.1 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:229700 Orphanet ID- 676 Gene [OrphaNum:121763 ; Name:Fructose-1,6-bisphosphatase 1 ; Symbol:FBP1 ; xref: GENATLAS:FBP1 ; xref: HGNC:3606 ; xref: OMIM:229700 ; xref: UNIPROTKB/SWISSPROT:P09467 ; xref: ENSEMBL:ENSG00000165140 ; xref: REACTOME:P09467] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 Glycogen storage disease due to muscle phosphorylase kinase deficiency GSD due to muscle phosphorylase kinase deficiency GSD type 9D GSD type 9E GSD type IXd GSD type IXe Glycogen storage disease type 9D Glycogen storage disease type 9E Glycogen storage disease type IXd Glycogen storage disease type IXe Glycogenosis due to muscle phosphorylase kinase deficiency Glycogenosis type 9D Glycogenosis type 9E Glycogenosis type IXd Glycogenosis type IXe Gene [OrphaNum:117790 ; Name:Phosphorylase kinase, alpha 1 (muscle) ; Symbol:PHKA1 ; xref: GENATLAS:PHKA1 ; xref: HGNC:8925 ; xref: OMIM:311870 ; xref: UNIPROTKB/SWISSPROT:P46020 ; xref: ENSEMBL:ENSG00000067177 ; xref: REACTOME:P46020] Glycogenosis due to muscle phosphorylase kinase deficiency Glycogenosis type IXd Glycogenosis type IXe Orphanet ID- 677 Glycogenosis type 9E Glycogen storage disease type 9E Glycogen storage disease type 9D Glycogenosis type 9D Glycogen storage disease type IXd Glycogen storage disease type IXe ICD10:E74.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 GSD due to muscle phosphorylase kinase deficiency OMIM:300559 GSD type IXe prevalence- 1 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; GSD type IXd GSD type 9E GSD type 9D EXACT GSD type 9E EXACT Glycogenosis type IXd EXACT Glycogenosis type 9E EXACT GSD type IXe EXACT Glycogenosis type 9D EXACT GSD due to muscle phosphorylase kinase deficiency EXACT GSD type IXd EXACT Glycogenosis type IXe EXACT Glycogen storage disease type IXd EXACT Glycogen storage disease type 9D EXACT Glycogen storage disease type IXe EXACT Glycogenosis due to muscle phosphorylase kinase deficiency EXACT GSD type 9D EXACT Glycogen storage disease type 9E Autosomal recessive limb-girdle muscular dystrophy type 2D Alpha-sarcoglycanopathy LGMD2D Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 LGMD2D ICD10:G71.0 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 678 OMIM:608099 Alpha-sarcoglycanopathy Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Gene [OrphaNum:118647 ; Name:Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) ; Symbol:SGCA ; xref: GENATLAS:SGCA ; xref: HGNC:10805 ; xref: OMIM:600119 ; xref: UNIPROTKB/SWISSPROT:Q16586 ; xref: ENSEMBL:ENSG00000108823] EXACT Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency EXACT Alpha-sarcoglycanopathy EXACT LGMD2D Myofibrillar myopathy prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593 Orphanet ID- 68 ICD10:G71.8 Multiminicore myopathy MmD Multiminicore disease OMIM:117000 Gene [OrphaNum:118437 ; Name:Ryanodine receptor 1 (skeletal) ; Symbol:RYR1 ; xref: UNIPROTKB/SWISSPROT:P21817 ; xref: GENATLAS:RYR1 ; xref: HGNC:10483 ; xref: OMIM:180901 ; xref: ENSEMBL:ENSG00000196218] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 OMIM:602771 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Orphanet ID- 698 Gene [OrphaNum:118596 ; Name:Selenoprotein N, 1 ; Symbol:SEPN1 ; xref: GENATLAS:SEPN1 ; xref: HGNC:15999 ; xref: OMIM:606210 ; xref: UNIPROTKB/SWISSPROT:Q9NZV5 ; xref: ENSEMBL:ENSG00000162430] OMIM:607552 OMIM:255320 Multiminicore disease MmD ICD10:G71.2 EXACT MmD EXACT Multiminicore disease Beta-mannosidosis Beta-mannosidase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 ICD10:E77.1 Gene [OrphaNum:123131 ; Name:Mannosidase, beta A, lysosomal ; Symbol:MANBA ; xref: GENATLAS:MANBA ; xref: HGNC:6831 ; xref: OMIM:609489 ; xref: UNIPROTKB/SWISSPROT:O00462 ; xref: ENSEMBL:ENSG00000109323] Beta-mannosidase deficiency OMIM:248510 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 7 EXACT Beta-mannosidase deficiency Genetic optic atrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103 Orphanet ID- 7022 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Erythrokeratodermia variabilis EKV Erythrokeratodermia variabilis, Mendes da Costa type Gene [OrphaNum:122135 ; Name:Gap junction protein, beta 3, 31kDa ; Symbol:GJB3 ; xref: GENATLAS:GJB3 ; xref: HGNC:4285 ; xref: OMIM:603324 ; xref: UNIPROTKB/SWISSPROT:O75712 ; xref: REACTOME:O75712 ; xref: ENSEMBL:ENSG00000188910] OMIM:133200 Gene [OrphaNum:122139 ; Name:Gap junction protein, beta 4 ; Symbol:GJB4 ; xref: GENATLAS:GJB4 ; xref: HGNC:4286 ; xref: OMIM:605425 ; xref: UNIPROTKB/SWISSPROT:Q9NTQ9 ; xref: ENSEMBL:ENSG00000189433 ; xref: REACTOME:Q9NTQ9] EKV Orphanet ID- 7023 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Erythrokeratodermia variabilis, Mendes da Costa type EXACT EKV EXACT Erythrokeratodermia variabilis, Mendes da Costa type Short stature due to growth hormone qualitative anomaly Kowarski syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629 Kowarski syndrome Orphanet ID- 7024 ICD10:E23.0 Gene [OrphaNum:122092 ; Name:Growth hormone 1 ; Symbol:GH1 ; xref: GENATLAS:GH1 ; xref: HGNC:4261 ; xref: OMIM:139250 ; xref: UNIPROTKB/SWISSPROT:P01241 ; xref: ENSEMBL:ENSG00000259384 ; xref: REACTOME:P01241] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:262650 EXACT Kowarski syndrome Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 ICD10:D80.0 ICD10:E23.0 Orphanet ID- 7025 Autosomal recessive hypohidrotic ectodermal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Gene [OrphaNum:121273 ; Name:Ectodysplasin A receptor ; Symbol:EDAR ; xref: GENATLAS:EDAR ; xref: HGNC:2895 ; xref: OMIM:604095 ; xref: UNIPROTKB/SWISSPROT:Q9UNE0 ; xref: ENSEMBL:ENSG00000135960] Orphanet ID- 7026 OMIM:224900 Gene [OrphaNum:121282 ; Name:EDAR-associated death domain ; Symbol:EDARADD ; xref: GENATLAS:EDARADD ; xref: HGNC:14341 ; xref: OMIM:606603 ; xref: UNIPROTKB/SWISSPROT:Q8WWZ3 ; xref: ENSEMBL:ENSG00000186197] Autosomal dominant hypohidrotic ectodermal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Gene [OrphaNum:121282 ; Name:EDAR-associated death domain ; Symbol:EDARADD ; xref: GENATLAS:EDARADD ; xref: HGNC:14341 ; xref: OMIM:606603 ; xref: UNIPROTKB/SWISSPROT:Q8WWZ3 ; xref: ENSEMBL:ENSG00000186197] Orphanet ID- 7027 Gene [OrphaNum:121273 ; Name:Ectodysplasin A receptor ; Symbol:EDAR ; xref: GENATLAS:EDAR ; xref: HGNC:2895 ; xref: OMIM:604095 ; xref: UNIPROTKB/SWISSPROT:Q9UNE0 ; xref: ENSEMBL:ENSG00000135960] OMIM:129490 Vogt-Koyanagi-Harada disease Uveomenigitic syndrome Uveomenigitic syndrome Orphanet ID- 7028 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3437 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Multigenic/multifactorial; EXACT Uveomenigitic syndrome Occipital horn syndrome EDS IX Ehlers-Danlos syndrome type IX Ehlers-Danlos syndrome, type 9 X-linked cutis laxa OMIM:304150 Gene [OrphaNum:118879 ; Name:ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) ; Symbol:ATP7A ; xref: GENATLAS:ATP7A ; xref: HGNC:869 ; xref: OMIM:300011 ; xref: UNIPROTKB/SWISSPROT:Q04656 ; xref: ENSEMBL:ENSG00000165240 ; xref: REACTOME:Q04656] Orphanet ID- 7035 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- X-linked recessive; X-linked cutis laxa Ehlers-Danlos syndrome type IX Ehlers-Danlos syndrome, type 9 ICD10:E83.0 EDS IX EXACT X-linked cutis laxa EXACT Ehlers-Danlos syndrome type IX EXACT Ehlers-Danlos syndrome, type 9 EXACT EDS IX Familial exudative vitreoretinopathy Criswick-Schepens syndrome FEVR Orphanet ID- 7036 Gene [OrphaNum:121977 ; Name:Frizzled homolog 4 (Drosophila) ; Symbol:FZD4 ; xref: GENATLAS:FZD4 ; xref: HGNC:4042 ; xref: OMIM:604579 ; xref: UNIPROTKB/SWISSPROT:Q9ULV1 ; xref: ENSEMBL:ENSG00000174804 ; xref: IUPHAR:232 ; xref: REACTOME:Q9ULV1] Gene [OrphaNum:225339 ; Name:Tetraspanin 12 ; Symbol:TSPAN12 ; xref: ENSEMBL:ENSG00000106025 ; xref: GENATLAS:TSPAN12 ; xref: HGNC:21641 ; xref: OMIM:613138 ; xref: UNIPROTKB/SWISSPROT:O95859] OMIM:605750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 FEVR ICD10:H35.0 OMIM:601813 OMIM:133780 Criswick-Schepens syndrome OMIM:613310 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Gene [OrphaNum:123713 ; Name:Norrie disease (pseudoglioma) ; Symbol:NDP ; xref: ENSEMBL:ENSG00000124479 ; xref: GENATLAS:NDP ; xref: HGNC:7678 ; xref: OMIM:310600 ; xref: UNIPROTKB/SWISSPROT:Q00604] Gene [OrphaNum:123115 ; Name:Low density lipoprotein receptor-related protein 5 ; Symbol:LRP5 ; xref: UNIPROTKB/SWISSPROT:O75197 ; xref: GENATLAS:LRP5 ; xref: HGNC:6697 ; xref: OMIM:603506 ; xref: ENSEMBL:ENSG00000162337] OMIM:305390 EXACT Criswick-Schepens syndrome EXACT FEVR Maternally inherited diabetes and deafness MIDD Mitochondrial diabetes Mitochondrial diabetes ICD10:H90.3 Gene [OrphaNum:138895 ; Name:Mitochondrially encoded tRNA leucine 1 (UUA/G) ; Symbol:MT-TL1 ; xref: GENATLAS:MT-TL1 ; xref: HGNC:7490 ; xref: OMIM:590050] Gene [OrphaNum:138900 ; Name:Mitochondrially encoded tRNA lysine ; Symbol:MT-TK ; xref: GENATLAS:MT-TK ; xref: HGNC:7489 ; xref: OMIM:590060] Gene [OrphaNum:140514 ; Name:Mitochondrially encoded tRNA glutamic acid ; Symbol:MT-TE ; xref: GENATLAS:MT-TE ; xref: HGNC:7479 ; xref: OMIM:590025] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225 Orphanet ID- 7037 MIDD ICD10:E13 OMIM:520000 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Mitochondrial inheritance; EXACT MIDD EXACT Mitochondrial diabetes Hereditary xanthinuria Classical xanthinuria Xanthic urolithiasis Xanthine stone disease Xanthic urolithiasis prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:E79.8 OMIM:278300 Orphanet ID- 704 Classical xanthinuria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 Xanthine stone disease OMIM:603592 EXACT Classical xanthinuria EXACT Xanthic urolithiasis EXACT Xanthine stone disease Maple syrup urine disease BCKD deficiency Branched-chain ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Leucinosis MSUD ICD10:E71.0 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 Branched-chain ketoaciduria Gene [OrphaNum:119005 ; Name:Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) ; Symbol:BCKDHB ; xref: GENATLAS:BCKDHB ; xref: HGNC:987 ; xref: OMIM:248611 ; xref: UNIPROTKB/SWISSPROT:P21953 ; xref: ENSEMBL:ENSG00000083123 ; xref: REACTOME:P21953] Branched-chain ketoacid dehydrogenase deficiency Gene [OrphaNum:121025 ; Name:Dihydrolipoamide branched chain transacylase E2 ; Symbol:DBT ; xref: GENATLAS:DBT ; xref: HGNC:2698 ; xref: OMIM:248610 ; xref: UNIPROTKB/SWISSPROT:P11182 ; xref: ENSEMBL:ENSG00000137992 ; xref: REACTOME:P11182] Orphanet ID- 708 Leucinosis BCKD deficiency Gene [OrphaNum:121102 ; Name:Dihydrolipoamide dehydrogenase ; Symbol:DLD ; xref: GENATLAS:DLD ; xref: HGNC:2898 ; xref: OMIM:238331 ; xref: UNIPROTKB/SWISSPROT:P09622 ; xref: ENSEMBL:ENSG00000091140 ; xref: REACTOME:P09622] OMIM:248600 Gene [OrphaNum:119002 ; Name:Branched chain keto acid dehydrogenase E1, alpha polypeptide ; Symbol:BCKDHA ; xref: GENATLAS:BCKDHA ; xref: HGNC:986 ; xref: OMIM:608348 ; xref: UNIPROTKB/SWISSPROT:P12694 ; xref: REACTOME:P12694 ; xref: ENSEMBL:ENSG00000248098] MSUD EXACT Branched-chain ketoaciduria EXACT Leucinosis EXACT Branched-chain ketoacid dehydrogenase deficiency EXACT MSUD EXACT BCKD deficiency Methylmalonic acidemia with homocystinuria Combined defect in adenosylcobalamin and methylcobalamin synthesis Methylmalonic aciduria with homocystinuria Combined defect in adenosylcobalamin and methylcobalamin synthesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 Gene [OrphaNum:138561 ; Name:Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 ; Symbol:MTHFD1 ; xref: GENATLAS:MTHFD1 ; xref: HGNC:7432 ; xref: OMIM:172460 ; xref: UNIPROTKB/SWISSPROT:P11586 ; xref: REACTOME:P11586 ; xref: ENSEMBL:ENSG00000100714] Methylmalonic aciduria with homocystinuria prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E72.1 Orphanet ID- 710 EXACT Combined defect in adenosylcobalamin and methylcobalamin synthesis EXACT Methylmalonic aciduria with homocystinuria Glutathione synthetase deficiency Pyroglutamicaciduria Pyroglutamicaciduria Gene [OrphaNum:122300 ; Name:Glutathione synthetase ; Symbol:GSS ; xref: GENATLAS:GSS ; xref: HGNC:4624 ; xref: OMIM:601002 ; xref: UNIPROTKB/SWISSPROT:P48637 ; xref: ENSEMBL:ENSG00000100983 ; xref: REACTOME:P48637] OMIM:231900 OMIM:266130 ICD10:E72.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 Orphanet ID- 711 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Pyroglutamicaciduria Ketoacidosis due to betaketothiolase deficiency Alpha methyl acetoacetyl-CoA thiolase deficiency MAT deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:203750 MAT deficiency Orphanet ID- 713 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 Gene [OrphaNum:117724 ; Name:Acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) ; Symbol:ACAT1 ; xref: GENATLAS:ACAT1 ; xref: HGNC:93 ; xref: OMIM:607809 ; xref: UNIPROTKB/SWISSPROT:P24752 ; xref: ENSEMBL:ENSG00000075239 ; xref: REACTOME:P24752] ICD10:E71.1 Alpha methyl acetoacetyl-CoA thiolase deficiency EXACT Alpha methyl acetoacetyl-CoA thiolase deficiency EXACT MAT deficiency Pulmonary agenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984 Orphanet ID- 715 ICD10:Q33.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:601612 Atresia of small intestine Apple peel syndrome Christmas tree syndrome Jejunal atresia prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Inheritance- Sporadic; Christmas tree syndrome Orphanet ID- 722 Apple peel syndrome ICD10:Q41 OMIM:243600 Jejunal atresia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 EXACT Apple peel syndrome EXACT Jejunal atresia EXACT Christmas tree syndrome Larynx atresia prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:150300 ICD10:Q31.8 Orphanet ID- 723 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 Esophageal atresia OMIM:189960 ICD10:Q39.0 Orphanet ID- 724 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; ICD10:Q39.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199 Familial chondromalacia patellae Patellofemoral syndrome OMIM:168900 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Patellofemoral syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1428 ICD10:M22.4 Orphanet ID- 727 EXACT Patellofemoral syndrome Exstrophy-epispadias complex BEEC Bladder exstrophy-epispadias-cloacal extrophy complex EEC OMIM:600057 EEC BEEC Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 ICD10:Q64.1 Bladder exstrophy-epispadias-cloacal extrophy complex prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; ICD10:Q64.0 Orphanet ID- 730 EXACT EEC EXACT Bladder exstrophy-epispadias-cloacal extrophy complex EXACT BEEC Gastroschisis Laparoschisis prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 731 OMIM:230750 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 Laparoschisis ICD10:Q79.3 EXACT Laparoschisis Autosomal recessive primary microcephaly MCPH ICD10:Q02 OMIM:251200 Gene [OrphaNum:239949 ; Name:WD repeat domain 62 ; Symbol:WDR62 ; xref: OMIM:613583 ; xref: UNIPROTKB/SWISSPROT:O43379 ; xref: HGNC:24502 ; xref: ENSEMBL:ENSG00000075702 ; xref: GENATLAS:WDR62] Gene [OrphaNum:119336 ; Name:Centromere protein J ; Symbol:CENPJ ; xref: GENATLAS:CENPJ ; xref: HGNC:17272 ; xref: OMIM:609279 ; xref: UNIPROTKB/SWISSPROT:Q9HC77 ; xref: ENSEMBL:ENSG00000151849 ; xref: REACTOME:Q9HC77] OMIM:604321 OMIM:608716 OMIM:604804 OMIM:612703 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 Gene [OrphaNum:119292 ; Name:CDK5 regulatory subunit associated protein 2 ; Symbol:CDK5RAP2 ; xref: GENATLAS:CDK5RAP2 ; xref: HGNC:18672 ; xref: OMIM:608201 ; xref: UNIPROTKB/SWISSPROT:Q96SN8 ; xref: ENSEMBL:ENSG00000136861 ; xref: REACTOME:Q96SN8] OMIM:603802 OMIM:608393 MCPH Gene [OrphaNum:292102 ; Name:Centrosomal protein 63kDa ; Symbol:CEP63 ; xref: HGNC:25815 ; xref: GENATLAS:CEP63 ; xref: UNIPROTKB/SWISSPROT:Q96MT8 ; xref: OMIM:614724] Orphanet ID- 732 Gene [OrphaNum:121461 ; Name:Asp (abnormal spindle) homolog, microcephaly associated (Drosophila) ; Symbol:ASPM ; xref: GENATLAS:ASPM ; xref: HGNC:19048 ; xref: OMIM:605481 ; xref: UNIPROTKB/SWISSPROT:Q8IZT6 ; xref: ENSEMBL:ENSG00000066279] OMIM:604317 Gene [OrphaNum:171649 ; Name:SCL/TAL1 interrupting locus ; Symbol:STIL ; xref: GENATLAS:STIL ; xref: HGNC:10879 ; xref: OMIM:181590 ; xref: UNIPROTKB/SWISSPROT:Q15468 ; xref: ENSEMBL:ENSG00000123473] Gene [OrphaNum:295279 ; Name:Centrosomal protein 135kDa ; Symbol:CEP135 ; xref: HGNC:29086 ; xref: OMIM:611423 ; xref: GENATLAS:CEP135 ; xref: UNIPROTKB/SWISSPROT:Q66GS9] Gene [OrphaNum:123183 ; Name:Microcephaly, primary autosomal recessive 1 ; Symbol:MCPH1 ; xref: GENATLAS:MCPH1 ; xref: HGNC:6954 ; xref: OMIM:607117 ; xref: UNIPROTKB/SWISSPROT:Q8NEM0 ; xref: ENSEMBL:ENSG00000147316] OMIM:614673 Gene [OrphaNum:240669 ; Name:Centrosomal protein 152kDa ; Symbol:CEP152 ; xref: GENATLAS:CEP152 ; xref: HGNC:29298 ; xref: OMIM:613529 ; xref: UNIPROTKB/SWISSPROT:O94986 ; xref: ENSEMBL:ENSG00000103995 ; xref: REACTOME:O94986] EXACT MCPH Polydactyly Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913 Orphanet ID- 733 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Sarcoidosis Besnier-Boeck-Schaumann disease Boeck sarcoid Boeck's sarcoid true OMIM:181000 OMIM:612388 Boeck sarcoid Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=797 Gene [OrphaNum:291915 ; Name:Butyrophilin-like 2 (MHC class II associated) ; Symbol:BTNL2 ; xref: HGNC:1142 ; xref: OMIM:606000 ; xref: GENATLAS:BTNL2 ; xref: UNIPROTKB/SWISSPROT:Q9UIR0 ; xref: ENSEMBL:ENSG00000204290] prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Gene [OrphaNum:122427 ; Name:Major histocompatibility complex, class II, DR beta 1 ; Symbol:HLA-DRB1 ; xref: REACTOME:P04229 ; xref: GENATLAS:HLA-DRB1 ; xref: HGNC:4948 ; xref: OMIM:142857 ; xref: UNIPROTKB/SWISSPROT:P04229 ; xref: UNIPROTKB/SWISSPROT:P13760 ; xref: UNIPROTKB/SWISSPROT:P13761 ; xref: UNIPROTKB/SWISSPROT:P20039 ; xref: UNIPROTKB/SWISSPROT:Q30134 ; xref: UNIPROTKB/SWISSPROT:Q30167 ; xref: UNIPROTKB/SWISSPROT:Q9TQE0 ; xref: ENSEMBL:ENSG00000196126] Boeck's sarcoid ICD10:D86 Besnier-Boeck-Schaumann disease Orphanet ID- 735 OMIM:612387 EXACT Boeck sarcoid EXACT Besnier-Boeck-Schaumann disease EXACT Boeck's sarcoid Aldolase A deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:119599 ; Name:Aldolase A, fructose-bisphosphate ; Symbol:ALDOA ; xref: GENATLAS:ALDOA ; xref: HGNC:414 ; xref: OMIM:103850 ; xref: UNIPROTKB/SWISSPROT:P04075 ; xref: REACTOME:P04075 ; xref: ENSEMBL:ENSG00000149925] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 ICD10:E74.0 OMIM:611881 Orphanet ID- 738 Phosphoglycerate kinase 1 deficiency OMIM:300653 Orphanet ID- 739 ICD10:D55.2 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 Gene [OrphaNum:124227 ; Name:Phosphoglycerate kinase 1 ; Symbol:PGK1 ; xref: GENATLAS:PGK1 ; xref: HGNC:8896 ; xref: OMIM:311800 ; xref: UNIPROTKB/SWISSPROT:P00558 ; xref: REACTOME:P00558 ; xref: ENSEMBL:ENSG00000102144] Leydig cell hypoplasia 46,XY sex development disorder due to LH defects LH resistance due to LH receptor inactivation Male pseudohermaphrodism due to LH defects Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 OMIM:238320 ICD10:Q56.1 Gene [OrphaNum:123048 ; Name:Luteinizing hormone/choriogonadotropin receptor ; Symbol:LHCGR ; xref: GENATLAS:LHCGR ; xref: HGNC:6585 ; xref: OMIM:152790 ; xref: UNIPROTKB/SWISSPROT:P22888 ; xref: REACTOME:P22888 ; xref: IUPHAR:254 ; xref: ENSEMBL:ENSG00000138039] Orphanet ID- 741 46,XY sex development disorder due to LH defects prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Male pseudohermaphrodism due to LH defects Gene [OrphaNum:123046 ; Name:Luteinizing hormone beta polypeptide ; Symbol:LHB ; xref: GENATLAS:LHB ; xref: HGNC:6584 ; xref: OMIM:152780 ; xref: UNIPROTKB/SWISSPROT:P01229 ; xref: ENSEMBL:ENSG00000104826 ; xref: REACTOME:P01229] LH resistance due to LH receptor inactivation OMIM:152780 EXACT Male pseudohermaphrodism due to LH defects EXACT 46,XY sex development disorder due to LH defects EXACT LH resistance due to LH receptor inactivation Autosomal dominant keratitis Hereditary keratitis Gene [OrphaNum:124094 ; Name:Paired box 6 ; Symbol:PAX6 ; xref: GENATLAS:PAX6 ; xref: HGNC:8620 ; xref: OMIM:607108 ; xref: UNIPROTKB/SWISSPROT:P26367 ; xref: ENSEMBL:ENSG00000007372 ; xref: REACTOME:P26367] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334 OMIM:148190 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:H16.8 Orphanet ID- 742 Hereditary keratitis EXACT Hereditary keratitis Fibrous dysplasia of bone Osteofibrous dysplasia Osteofibrous dysplasia prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249 ICD10:Q78.1 Orphanet ID- 743 OMIM:607278 Gene [OrphaNum:122194 ; Name:GNAS complex locus ; Symbol:GNAS ; xref: GENATLAS:GNAS ; xref: HGNC:4392 ; xref: OMIM:139320 ; xref: UNIPROTKB/SWISSPROT:Q5JWF2 ; xref: ENSEMBL:ENSG00000087460] EXACT Osteofibrous dysplasia Osteochondritis of tarsal/metatarsal bone Aseptic necrosis of the tarsal bone Osteochondrosis of the tarsal bone prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Sporadic; Osteochondrosis of the tarsal bone Aseptic necrosis of the tarsal bone Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2054 Orphanet ID- 746 EXACT Osteochondrosis of the tarsal bone EXACT Aseptic necrosis of the tarsal bone Alternating hemiplegia of childhood AHC Alternating hemiplegia in childhood prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:121497 ; Name:ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide ; Symbol:ATP1A2 ; xref: GENATLAS:ATP1A2 ; xref: HGNC:800 ; xref: OMIM:182340 ; xref: UNIPROTKB/SWISSPROT:P50993 ; xref: REACTOME:P50993 ; xref: ENSEMBL:ENSG00000018625] AHC Alternating hemiplegia in childhood Orphanet ID- 748 Gene [OrphaNum:119129 ; Name:Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ; Symbol:CACNA1A ; xref: GENATLAS:CACNA1A ; xref: HGNC:1388 ; xref: OMIM:601011 ; xref: UNIPROTKB/SWISSPROT:O00555 ; xref: IUPHAR:532 ; xref: ENSEMBL:ENSG00000141837 ; xref: REACTOME:O00555] Gene [OrphaNum:212892 ; Name:Solute carrier family 1 (glial high affinity glutamate transporter), member 3 ; Symbol:SLC1A3 ; xref: ENSEMBL:ENSG00000079215 ; xref: REACTOME:P43003 ; xref: GENATLAS:SLC1A3 ; xref: HGNC:10941 ; xref: OMIM:600111 ; xref: UNIPROTKB/SWISSPROT:P43003] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 OMIM:104290 ICD10:G98 EXACT Alternating hemiplegia in childhood EXACT AHC Thomsen and Becker disease Myotonia congenita Myotonia congenita Orphanet ID- 75 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 OMIM:255700 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:160800 Gene [OrphaNum:119447 ; Name:Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) ; Symbol:CLCN1 ; xref: GENATLAS:CLCN1 ; xref: HGNC:2019 ; xref: OMIM:118425 ; xref: UNIPROTKB/SWISSPROT:P35523 ; xref: ENSEMBL:ENSG00000188037] ICD10:G71.1 EXACT Myotonia congenita Scott syndrome ICD10:D69.8 Orphanet ID- 7521 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:262890 Gene [OrphaNum:258633 ; Name:Anoctamin 6 ; Symbol:ANO6 ; xref: OMIM:608663 ; xref: HGNC:25240 ; xref: GENATLAS:ANO6 ; xref: UNIPROTKB/SWISSPROT:Q4KMQ2 ; xref: ENSEMBL:ENSG00000177119] Paramyotonia congenita of Von Eulenburg Paramyotonia congenita OMIM:168300 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 76 Paramyotonia congenita Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 ICD10:G71.1 Gene [OrphaNum:118507 ; Name:Sodium channel, voltage-gated, type IV, alpha subunit ; Symbol:SCN4A ; xref: ENSEMBL:ENSG00000007314 ; xref: REACTOME:P35499 ; xref: IUPHAR:581 ; xref: GENATLAS:SCN4A ; xref: HGNC:10591 ; xref: OMIM:603967 ; xref: UNIPROTKB/SWISSPROT:P35499] EXACT Paramyotonia congenita Congenital hypothyroidism ICD10:E03.1 ICD10:E03.0 Orphanet ID- 760 prevalence- 1-5 / 10 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:E00 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442 X-linked adrenoleukodystrophy ALD X-ALD X-linked ALD ALD Orphanet ID- 761 OMIM:300100 ICD10:E71.3 X-linked ALD OMIM:302700 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 X-ALD EXACT X-linked ALD EXACT X-ALD EXACT ALD Citrullinemia Orphanet ID- 762 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 ICD10:E72.2 Adenylosuccinate lyase deficiency ADSL deficiency Adenylosuccinase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ADSL deficiency Gene [OrphaNum:119507 ; Name:Adenylosuccinate lyase ; Symbol:ADSL ; xref: REACTOME:P30566 ; xref: GENATLAS:ADSL ; xref: HGNC:291 ; xref: OMIM:608222 ; xref: UNIPROTKB/SWISSPROT:P30566 ; xref: ENSEMBL:ENSG00000239900] Adenylosuccinase deficiency ICD10:E79.8 Orphanet ID- 763 OMIM:103050 EXACT Adenylosuccinase deficiency EXACT ADSL deficiency Sitosterolemia Phytosterolemia Xanthomatosis with sisterolemia Gene [OrphaNum:117685 ; Name:ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) ; Symbol:ABCG8 ; xref: GENATLAS:ABCG8 ; xref: HGNC:13887 ; xref: OMIM:605460 ; xref: UNIPROTKB/SWISSPROT:Q9H221 ; xref: ENSEMBL:ENSG00000143921 ; xref: REACTOME:Q9H221] Gene [OrphaNum:117683 ; Name:ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) ; Symbol:ABCG5 ; xref: GENATLAS:ABCG5 ; xref: HGNC:13886 ; xref: OMIM:605459 ; xref: UNIPROTKB/SWISSPROT:Q9H222 ; xref: ENSEMBL:ENSG00000138075 ; xref: REACTOME:Q9H222] ICD10:E78.0 OMIM:210250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 765 Phytosterolemia Xanthomatosis with sisterolemia EXACT Xanthomatosis with sisterolemia EXACT Phytosterolemia Sialuria, French type prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 Gene [OrphaNum:122207 ; Name:Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ; Symbol:GNE ; xref: GENATLAS:GNE ; xref: HGNC:23657 ; xref: OMIM:603824 ; xref: UNIPROTKB/SWISSPROT:Q9Y223 ; xref: ENSEMBL:ENSG00000159921] Orphanet ID- 766 ICD10:E77.8 OMIM:269921 Steinert myotonic dystrophy DM1 MD1 Myotonic dystrophy type 1 Steinert disease DM1 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Steinert disease OMIM:160900 Orphanet ID- 77 ICD10:G71.1 Myotonic dystrophy type 1 Gene [OrphaNum:121131 ; Name:Dystrophia myotonica-protein kinase ; Symbol:DMPK ; xref: ENSEMBL:ENSG00000104936 ; xref: GENATLAS:DMPK ; xref: HGNC:2933 ; xref: OMIM:605377 ; xref: UNIPROTKB/SWISSPROT:Q09013] MD1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 EXACT Steinert disease EXACT Myotonic dystrophy type 1 EXACT MD1 EXACT DM1 Hyperornithinemia-hyperammonemia-homocitrullinuria HHH syndrome Triple H syndrome prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 OMIM:238970 Orphanet ID- 770 ICD10:E72.4 Gene [OrphaNum:118789 ; Name:Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 ; Symbol:SLC25A15 ; xref: GENATLAS:SLC25A15 ; xref: HGNC:10985 ; xref: OMIM:603861 ; xref: UNIPROTKB/SWISSPROT:Q9Y619 ; xref: ENSEMBL:ENSG00000102743 ; xref: REACTOME:Q9Y619] Triple H syndrome HHH syndrome EXACT Triple H syndrome EXACT HHH syndrome 6-pyruvoyl-tetrahydropterin synthase deficiency Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency ICD10:E70.1 Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 OMIM:261640 Orphanet ID- 771 Gene [OrphaNum:118157 ; Name:6-pyruvoyltetrahydropterin synthase ; Symbol:PTS ; xref: GENATLAS:PTS ; xref: HGNC:9689 ; xref: OMIM:261640 ; xref: UNIPROTKB/SWISSPROT:Q03393 ; xref: ENSEMBL:ENSG00000150787 ; xref: REACTOME:Q03393] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Sarcosinemia Sarcosine dehydrogenase complex deficiency prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 Orphanet ID- 773 Sarcosine dehydrogenase complex deficiency ICD10:E72.5 Gene [OrphaNum:118468 ; Name:Sarcosine dehydrogenase ; Symbol:SARDH ; xref: GENATLAS:SARDH ; xref: HGNC:10536 ; xref: OMIM:604455 ; xref: UNIPROTKB/SWISSPROT:Q9UL12 ; xref: ENSEMBL:ENSG00000123453] OMIM:268900 EXACT Sarcosine dehydrogenase complex deficiency Dihydropyrimidine dehydrogenase deficiency Familial pyrimidinemia OMIM:274270 Gene [OrphaNum:121171 ; Name:Dihydropyrimidine dehydrogenase ; Symbol:DPYD ; xref: GENATLAS:DPYD ; xref: HGNC:3012 ; xref: UNIPROTKB/SWISSPROT:Q12882 ; xref: OMIM:612779 ; xref: REACTOME:Q12882 ; xref: ENSEMBL:ENSG00000188641] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 Orphanet ID- 774 ICD10:E79.8 Familial pyrimidinemia EXACT Familial pyrimidinemia 2,8 dihydroxyadenine urolithiasis Adenine phosphoribosyltransferase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 ICD10:E79.8 Orphanet ID- 775 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Adenine phosphoribosyltransferase deficiency Gene [OrphaNum:121400 ; Name:Adenine phosphoribosyltransferase ; Symbol:APRT ; xref: GENATLAS:APRT ; xref: HGNC:626 ; xref: OMIM:102600 ; xref: UNIPROTKB/SWISSPROT:P07741 ; xref: ENSEMBL:ENSG00000198931 ; xref: REACTOME:P07741] OMIM:102600 EXACT Adenine phosphoribosyltransferase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 OMIM:245400 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:158461 ; Name:Succinate-CoA ligase, alpha subunit ; Symbol:SUCLG1 ; xref: GENATLAS:SUCLG1 ; xref: HGNC:11449 ; xref: OMIM:611224 ; xref: UNIPROTKB/SWISSPROT:P53597 ; xref: ENSEMBL:ENSG00000163541 ; xref: REACTOME:P53597] Orphanet ID- 776 ICD10:E87.2 Atypical hemolytic uremic syndrome D-HUS Hemolytic-uremic syndrome without diarrhea aHUS Gene [OrphaNum:286604 ; Name:Complement factor H-related 5 ; Symbol:CFHR5 ; xref: ENSEMBL:ENSG00000134389 ; xref: HGNC:24668 ; xref: OMIM:608593 ; xref: GENATLAS:CFHR5 ; xref: UNIPROTKB/SWISSPROT:Q9BXR6] OMIM:235400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Hemolytic-uremic syndrome without diarrhea D-HUS Orphanet ID- 779 ICD10:D58.8 aHUS EXACT Hemolytic-uremic syndrome without diarrhea EXACT aHUS EXACT D-HUS Congenital primary lymphedema Orphanet ID- 780 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416 ICD10:Q82.0 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; GTP cyclohydrolase I deficiency GTPCH deficiency Hyperphenylalaninemia due to GTP cyclohydrolase deficiency ICD10:E70.1 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 Gene [OrphaNum:122048 ; Name:GTP cyclohydrolase 1 (dopa-responsive dystonia) ; Symbol:GCH1 ; xref: GENATLAS:GCH1 ; xref: HGNC:4193 ; xref: OMIM:600225 ; xref: UNIPROTKB/SWISSPROT:P30793 ; xref: ENSEMBL:ENSG00000131979 ; xref: REACTOME:P30793] Hyperphenylalaninemia due to GTP cyclohydrolase deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; GTPCH deficiency Orphanet ID- 787 OMIM:233910 ICD10:E79.8 EXACT GTPCH deficiency EXACT Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Binswanger disease prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1249 ICD10:I67.3 Orphanet ID- 791 Craniosynostosis Orphanet ID- 792 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 Ramsay-Hunt syndrome Myoclonus ataxia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3020 OMIM:159700 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Myoclonus ataxia Orphanet ID- 793 EXACT Myoclonus ataxia Acatalasemia Catalase deficiency prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Catalase deficiency Orphanet ID- 794 OMIM:614097 ICD10:E80.3 Gene [OrphaNum:119192 ; Name:Catalase ; Symbol:CAT ; xref: GENATLAS:CAT ; xref: HGNC:1516 ; xref: OMIM:115500 ; xref: UNIPROTKB/SWISSPROT:P04040 ; xref: ENSEMBL:ENSG00000121691 ; xref: REACTOME:P04040] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 EXACT Catalase deficiency Atransferrinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 Gene [OrphaNum:120027 ; Name:Transferrin ; Symbol:TF ; xref: GENATLAS:TF ; xref: HGNC:11740 ; xref: OMIM:190000 ; xref: UNIPROTKB/SWISSPROT:P02787 ; xref: ENSEMBL:ENSG00000091513 ; xref: REACTOME:P02787] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:209300 ICD10:D50.8 Orphanet ID- 795 Bernard-Soulier syndrome Giant platelet syndrome Hemorrhagiparous thrombocytic dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 ICD10:D69.1 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Hemorrhagiparous thrombocytic dystrophy Orphanet ID- 796 Gene [OrphaNum:122237 ; Name:Glycoprotein Ib (platelet), alpha polypeptide ; Symbol:GP1BA ; xref: GENATLAS:GP1BA ; xref: HGNC:4439 ; xref: OMIM:606672 ; xref: UNIPROTKB/SWISSPROT:P07359 ; xref: ENSEMBL:ENSG00000185245 ; xref: REACTOME:P07359] OMIM:231200 OMIM:153670 Gene [OrphaNum:122241 ; Name:Glycoprotein Ib (platelet), beta polypeptide ; Symbol:GP1BB ; xref: GENATLAS:GP1BB ; xref: HGNC:4440 ; xref: OMIM:138720 ; xref: UNIPROTKB/SWISSPROT:P13224 ; xref: REACTOME:P13224 ; xref: ENSEMBL:ENSG00000203618] Gene [OrphaNum:122244 ; Name:Glycoprotein IX (platelet) ; Symbol:GP9 ; xref: GENATLAS:GP9 ; xref: HGNC:4444 ; xref: OMIM:173515 ; xref: UNIPROTKB/SWISSPROT:P14770 ; xref: REACTOME:P14770 ; xref: ENSEMBL:ENSG00000169704] Giant platelet syndrome EXACT Hemorrhagiparous thrombocytic dystrophy EXACT Giant platelet syndrome Bronchogenic cyst ICD10:J98.4 Orphanet ID- 797 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Unknown; ICD10:Q33.0 Congenital bronchobiliary fistula Orphanet ID- 798 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 ICD10:Q32.4 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Sporadic; Canavan disease Aspartoacylase deficiency Spongy degeneration of central nervous system Gene [OrphaNum:121457 ; Name:Aspartoacylase (Canavan disease) ; Symbol:ASPA ; xref: ENSEMBL:ENSG00000108381 ; xref: GENATLAS:ASPA ; xref: HGNC:756 ; xref: OMIM:608034 ; xref: UNIPROTKB/SWISSPROT:P45381] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 OMIM:271900 Orphanet ID- 8 ICD10:E75.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Spongy degeneration of central nervous system Aspartoacylase deficiency EXACT Spongy degeneration of central nervous system EXACT Aspartoacylase deficiency Congenital lobar emphysema Orphanet ID- 802 OMIM:130710 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 ICD10:Q33.8 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Brugada syndrome Bangungut Dream disease Idiopathic ventricular fibrillation, Brugada type Pokkuri death syndrome SUNDS Sudden unexplained nocturnal death syndrome OMIM:611777 OMIM:613119 OMIM:612838 OMIM:601144 Sudden unexplained nocturnal death syndrome OMIM:611875 OMIM:611876 Bangungut prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; ICD10:I49.0 Gene [OrphaNum:218675 ; Name:Sodium channel, voltage-gated, type III, beta ; Symbol:SCN3B ; xref: ENSEMBL:ENSG00000166257 ; xref: REACTOME:Q9NY72 ; xref: GENATLAS:SCN3B ; xref: HGNC:20665 ; xref: OMIM:608214 ; xref: UNIPROTKB/SWISSPROT:Q9NY72] Gene [OrphaNum:122773 ; Name:Potassium voltage-gated channel, Isk-related family, member 3 ; Symbol:KCNE3 ; xref: GENATLAS:KCNE3 ; xref: HGNC:6243 ; xref: OMIM:604433 ; xref: UNIPROTKB/SWISSPROT:Q9Y6H6 ; xref: ENSEMBL:ENSG00000175538] Gene [OrphaNum:302951 ; Name:Potassium voltage-gated channel, Shal-related subfamily, member 3 ; Symbol:KCND3 ; xref: UNIPROTKB/SWISSPROT:Q9UK17 ; xref: HGNC:6239 ; xref: OMIM:605411 ; xref: GENATLAS:KCND3] OMIM:613120 Idiopathic ventricular fibrillation, Brugada type Gene [OrphaNum:122381 ; Name:Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ; Symbol:HCN4 ; xref: GENATLAS:HCN4 ; xref: HGNC:16882 ; xref: OMIM:605206 ; xref: UNIPROTKB/SWISSPROT:Q9Y3Q4 ; xref: REACTOME:Q9Y3Q4 ; xref: ENSEMBL:ENSG00000138622 ; xref: IUPHAR:403] OMIM:613123 SUNDS Gene [OrphaNum:119164 ; Name:Calcium channel, voltage-dependent, beta 2 subunit ; Symbol:CACNB2 ; xref: GENATLAS:CACNB2 ; xref: HGNC:1402 ; xref: OMIM:600003 ; xref: UNIPROTKB/SWISSPROT:Q08289 ; xref: ENSEMBL:ENSG00000165995 ; xref: REACTOME:Q08289] Pokkuri death syndrome Gene [OrphaNum:297206 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 8 ; Symbol:KCNJ8 ; xref: UNIPROTKB/SWISSPROT:Q15842 ; xref: HGNC:6269 ; xref: OMIM:600935 ; xref: GENATLAS:KCNJ8] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 Gene [OrphaNum:218672 ; Name:Glycerol-3-phosphate dehydrogenase 1-like ; Symbol:GPD1L ; xref: REACTOME:Q8N335 ; xref: GENATLAS:GPD1L ; xref: HGNC:28956 ; xref: OMIM:611778 ; xref: UNIPROTKB/SWISSPROT:Q8N335 ; xref: ENSEMBL:ENSG00000152642] Dream disease Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] Gene [OrphaNum:118498 ; Name:Sodium channel, voltage-gated, type I, beta ; Symbol:SCN1B ; xref: GENATLAS:SCN1B ; xref: HGNC:10586 ; xref: OMIM:600235 ; xref: UNIPROTKB/SWISSPROT:Q07699 ; xref: ENSEMBL:ENSG00000105711 ; xref: REACTOME:Q07699] Orphanet ID- 8022 Gene [OrphaNum:119140 ; Name:Calcium channel, voltage-dependent, L type, alpha 1C subunit ; Symbol:CACNA1C ; xref: GENATLAS:CACNA1C ; xref: HGNC:1390 ; xref: OMIM:114205 ; xref: UNIPROTKB/SWISSPROT:Q13936 ; xref: ENSEMBL:ENSG00000151067 ; xref: REACTOME:Q13936 ; xref: IUPHAR:529] EXACT Idiopathic ventricular fibrillation, Brugada type EXACT SUNDS EXACT Dream disease EXACT Bangungut EXACT Sudden unexplained nocturnal death syndrome EXACT Pokkuri death syndrome Severe combined immunodeficiency due to adenosine deaminase deficiency Adenosine deaminase deficiency Gene [OrphaNum:117771 ; Name:Adenosine deaminase ; Symbol:ADA ; xref: GENATLAS:ADA ; xref: HGNC:186 ; xref: OMIM:608958 ; xref: UNIPROTKB/SWISSPROT:P00813 ; xref: ENSEMBL:ENSG00000196839 ; xref: REACTOME:P00813] Orphanet ID- 8023 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Adenosine deaminase deficiency ICD10:D81.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 OMIM:102700 EXACT Adenosine deaminase deficiency Hyperlipoproteinemia type 4 Familial hypertriglyceridemia OMIM:144600 Familial hypertriglyceridemia prevalence- null; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; ICD10:E78.1 Gene [OrphaNum:121382 ; Name:Apolipoprotein A-V ; Symbol:APOA5 ; xref: GENATLAS:APOA5 ; xref: HGNC:17288 ; xref: OMIM:606368 ; xref: UNIPROTKB/SWISSPROT:Q6Q788 ; xref: ENSEMBL:ENSG00000110243 ; xref: REACTOME:Q6Q788] Gene [OrphaNum:123067 ; Name:Lipase, member I ; Symbol:LIPI ; xref: GENATLAS:LIPI ; xref: HGNC:18821 ; xref: OMIM:609252 ; xref: UNIPROTKB/SWISSPROT:Q6XZB0 ; xref: ENSEMBL:ENSG00000188992] Orphanet ID- 8024 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=413 OMIM:145750 EXACT Familial hypertriglyceridemia Familial hypobetalipoproteinemia Orphanet ID- 8025 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=426 Pyruvate carboxylase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 8026 Gene [OrphaNum:124107 ; Name:Pyruvate carboxylase ; Symbol:PC ; xref: GENATLAS:PC ; xref: HGNC:8636 ; xref: OMIM:608786 ; xref: UNIPROTKB/SWISSPROT:P11498 ; xref: ENSEMBL:ENSG00000173599 ; xref: REACTOME:P11498] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 OMIM:266150 ICD10:E74.4 Centronuclear myopathy prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 8027 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595 MODY syndrome Maturity Onset Diabetes of the Young OMIM:606394 OMIM:606392 OMIM:606391 OMIM:609812 OMIM:125850 OMIM:125851 OMIM:612225 Gene [OrphaNum:168345 ; Name:Insulin ; Symbol:INS ; xref: GENATLAS:INS ; xref: HGNC:6081 ; xref: OMIM:176730 ; xref: UNIPROTKB/SWISSPROT:P01308 ; xref: ENSEMBL:ENSG00000254647 ; xref: REACTOME:P01308] Gene [OrphaNum:158583 ; Name:HNF1 homeobox A ; Symbol:HNF1A ; xref: GENATLAS:HNF1A ; xref: HGNC:11621 ; xref: OMIM:142410 ; xref: UNIPROTKB/SWISSPROT:P20823 ; xref: ENSEMBL:ENSG00000135100 ; xref: REACTOME:P20823] OMIM:613370 Gene [OrphaNum:117665 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 8 ; Symbol:ABCC8 ; xref: GENATLAS:ABCC8 ; xref: HGNC:59 ; xref: OMIM:600509 ; xref: UNIPROTKB/SWISSPROT:Q09428 ; xref: ENSEMBL:ENSG00000006071 ; xref: REACTOME:Q09428] Gene [OrphaNum:122455 ; Name:Hepatocyte nuclear factor 4, alpha ; Symbol:HNF4A ; xref: GENATLAS:HNF4A ; xref: HGNC:5024 ; xref: OMIM:600281 ; xref: UNIPROTKB/SWISSPROT:P41235 ; xref: REACTOME:P41235 ; xref: IUPHAR:608 ; xref: ENSEMBL:ENSG00000101076] OMIM:613375 Gene [OrphaNum:227384 ; Name:B lymphoid tyrosine kinase ; Symbol:BLK ; xref: GENATLAS:BLK ; xref: HGNC:1057 ; xref: OMIM:191305 ; xref: UNIPROTKB/SWISSPROT:P51451 ; xref: ENSEMBL:ENSG00000136573 ; xref: REACTOME:P51451] Gene [OrphaNum:123762 ; Name:Neurogenic differentiation 1 ; Symbol:NEUROD1 ; xref: GENATLAS:NEUROD1 ; xref: HGNC:7762 ; xref: OMIM:601724 ; xref: UNIPROTKB/SWISSPROT:Q13562 ; xref: ENSEMBL:ENSG00000162992 ; xref: REACTOME:Q13562] OMIM:600496 Orphanet ID- 8028 ICD10:E11.8 Gene [OrphaNum:201085 ; Name:Paired box 4 ; Symbol:PAX4 ; xref: ENSEMBL:ENSG00000106331 ; xref: REACTOME:O43316 ; xref: GENATLAS:PAX4 ; xref: HGNC:8618 ; xref: OMIM:167413 ; xref: UNIPROTKB/SWISSPROT:O43316] Gene [OrphaNum:122053 ; Name:Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) ; Symbol:GCK ; xref: GENATLAS:GCK ; xref: HGNC:4195 ; xref: OMIM:138079 ; xref: UNIPROTKB/SWISSPROT:P35557 ; xref: ENSEMBL:ENSG00000106633 ; xref: REACTOME:P35557] prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:122868 ; Name:Kruppel-like factor 11 ; Symbol:KLF11 ; xref: GENATLAS:KLF11 ; xref: HGNC:11811 ; xref: OMIM:603301 ; xref: UNIPROTKB/SWISSPROT:O14901 ; xref: ENSEMBL:ENSG00000172059] Maturity Onset Diabetes of the Young Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552 Gene [OrphaNum:119333 ; Name:Carboxyl ester lipase (bile salt-stimulated lipase) ; Symbol:CEL ; xref: GENATLAS:CEL ; xref: HGNC:1848 ; xref: OMIM:114840 ; xref: UNIPROTKB/SWISSPROT:P19835 ; xref: REACTOME:P19835 ; xref: ENSEMBL:ENSG00000170835] Gene [OrphaNum:124173 ; Name:Pancreatic and duodenal homeobox 1 ; Symbol:PDX1 ; xref: OMIM:600733 ; xref: UNIPROTKB/SWISSPROT:P52945 ; xref: GENATLAS:PDX1 ; xref: HGNC:6107 ; xref: REACTOME:P52945 ; xref: ENSEMBL:ENSG00000139515] OMIM:610508 Gene [OrphaNum:122787 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 11 ; Symbol:KCNJ11 ; xref: GENATLAS:KCNJ11 ; xref: HGNC:6257 ; xref: OMIM:600937 ; xref: UNIPROTKB/SWISSPROT:Q14654 ; xref: IUPHAR:442 ; xref: ENSEMBL:ENSG00000187486 ; xref: REACTOME:Q14654] EXACT Maturity Onset Diabetes of the Young Mitochondrial neurogastrointestinal encephalomyopathy MNGIE MNGIE Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 Orphanet ID- 8030 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Adult; Inheritance- Autosomal recessive; Gene [OrphaNum:117925 ; Name:Polymerase (DNA directed), gamma ; Symbol:POLG ; xref: GENATLAS:POLG ; xref: HGNC:9179 ; xref: OMIM:174763 ; xref: UNIPROTKB/SWISSPROT:P54098 ; xref: ENSEMBL:ENSG00000140521] Gene [OrphaNum:159550 ; Name:Thymidine phosphorylase ; Symbol:TYMP ; xref: GENATLAS:TYMP ; xref: HGNC:3148 ; xref: OMIM:131222 ; xref: UNIPROTKB/SWISSPROT:P19971 ; xref: ENSEMBL:ENSG00000025708 ; xref: REACTOME:P19971] ICD10:E79.8 OMIM:603041 OMIM:613662 EXACT MNGIE Dubin-Johnson syndrome Dubin-Sprinz disease Hyperbilirubinemia type 2 Sprinz-Nelson syndrome OMIM:237500 ICD10:E80.6 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Hyperbilirubinemia type 2 Dubin-Sprinz disease Orphanet ID- 805 Sprinz-Nelson syndrome Gene [OrphaNum:117652 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 2 ; Symbol:ABCC2 ; xref: GENATLAS:ABCC2 ; xref: HGNC:53 ; xref: OMIM:601107 ; xref: UNIPROTKB/SWISSPROT:Q92887 ; xref: ENSEMBL:ENSG00000023839 ; xref: REACTOME:Q92887] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 EXACT Sprinz-Nelson syndrome EXACT Hyperbilirubinemia type 2 EXACT Dubin-Sprinz disease Gerstmann-Straussler-Scheinker syndrome Subacute spongiform encephalopathy, Gerstmann-Straussler type ICD10:A81.8 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:118023 ; Name:Prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) ; Symbol:PRNP ; xref: GENATLAS:PRNP ; xref: HGNC:9449 ; xref: OMIM:176640 ; xref: UNIPROTKB/SWISSPROT:P04156 ; xref: ENSEMBL:ENSG00000171867 ; xref: REACTOME:P04156] OMIM:137440 Subacute spongiform encephalopathy, Gerstmann-Straussler type Orphanet ID- 809 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 EXACT Subacute spongiform encephalopathy, Gerstmann-Straussler type Fatal familial insomnia prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; ICD10:A81.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 OMIM:600072 Gene [OrphaNum:118023 ; Name:Prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) ; Symbol:PRNP ; xref: GENATLAS:PRNP ; xref: HGNC:9449 ; xref: OMIM:176640 ; xref: UNIPROTKB/SWISSPROT:P04156 ; xref: ENSEMBL:ENSG00000171867 ; xref: REACTOME:P04156] Orphanet ID- 810 Wolfram syndrome DIDMOAD syndrome Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness OMIM:598500 Orphanet ID- 812 Gene [OrphaNum:120514 ; Name:Wolfram syndrome 1 (wolframin) ; Symbol:WFS1 ; xref: ENSEMBL:ENSG00000109501 ; xref: REACTOME:O76024 ; xref: GENATLAS:WFS1 ; xref: HGNC:12762 ; xref: OMIM:606201 ; xref: UNIPROTKB/SWISSPROT:O76024] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal recessive; OMIM:222300 OMIM:614296 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 ICD10:E10.7 Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness OMIM:604928 DIDMOAD syndrome Gene [OrphaNum:166722 ; Name:CDGSH iron sulfur domain 2 ; Symbol:CISD2 ; xref: GENATLAS:CISD2 ; xref: HGNC:24212 ; xref: OMIM:611507 ; xref: UNIPROTKB/SWISSPROT:Q8N5K1 ; xref: ENSEMBL:ENSG00000145354] ICD10:H48.0 EXACT DIDMOAD syndrome EXACT Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness Spastic ataxia, Charlevoix-Saguenay type ARSACS OMIM:270550 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 Orphanet ID- 816 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; ARSACS Gene [OrphaNum:118445 ; Name:Spastic ataxia of Charlevoix-Saguenay (sacsin) ; Symbol:SACS ; xref: GENATLAS:SACS ; xref: HGNC:10519 ; xref: OMIM:604490 ; xref: UNIPROTKB/SWISSPROT:Q9NZJ4 ; xref: ENSEMBL:ENSG00000151835] ICD10:G11.1 EXACT ARSACS Interauricular communication ASD Atrial septal defect OMIM:614433 OMIM:607941 OMIM:611363 OMIM:613087 Orphanet ID- 818 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; OMIM:614089 ASD ICD10:Q21.1 OMIM:614475 Atrial septal defect OMIM:108800 OMIM:612794 EXACT Atrial septal defect EXACT ASD Autosomal dominant severe congenital neutropenia Gene [OrphaNum:122080 ; Name:Growth factor independent 1 ; Symbol:GFI1 ; xref: GENATLAS:GFI1 ; xref: HGNC:4237 ; xref: OMIM:600871 ; xref: UNIPROTKB/SWISSPROT:Q99684 ; xref: ENSEMBL:ENSG00000162676] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486 OMIM:257100 Gene [OrphaNum:171034 ; Name:Glucose 6 phosphatase, catalytic, 3 ; Symbol:G6PC3 ; xref: GENATLAS:G6PC3 ; xref: HGNC:24861 ; xref: OMIM:611045 ; xref: UNIPROTKB/SWISSPROT:Q9BUM1 ; xref: ENSEMBL:ENSG00000141349 ; xref: REACTOME:Q9BUM1] Gene [OrphaNum:121511 ; Name:Elastase, neutrophil expressed ; Symbol:ELANE ; xref: HGNC:3309 ; xref: OMIM:130130 ; xref: GENATLAS:ELANE ; xref: UNIPROTKB/SWISSPROT:P08246 ; xref: ENSEMBL:ENSG00000197561 ; xref: REACTOME:P08246] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; OMIM:613107 ICD10:D70 OMIM:612541 OMIM:202700 Orphanet ID- 822 Stickler syndrome Hereditary progressive arthroophthalmopathy OMIM:184840 Orphanet ID- 824 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 ICD10:Q87.5 OMIM:108300 Hereditary progressive arthroophthalmopathy prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Hereditary progressive arthroophthalmopathy Harding ataxia EOCARR Early onset cerebellar ataxia with retained tendon reflex Early onset cerebellar ataxia with retained tendon reflex ICD10:G11.1 Orphanet ID- 825 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 EOCARR prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:212895 EXACT Early onset cerebellar ataxia with retained tendon reflex EXACT EOCARR Paroxysmal dyskinesia Orphanet ID- 827 ICD10:G24.8 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 Congenital factor XII deficiency Congenital Hageman factor deficiency Orphanet ID- 829 ICD10:D68.2 OMIM:234000 Congenital Hageman factor deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:121663 ; Name:Coagulation factor XII (Hageman factor) ; Symbol:F12 ; xref: GENATLAS:F12 ; xref: HGNC:3530 ; xref: OMIM:610619 ; xref: UNIPROTKB/SWISSPROT:P00748 ; xref: REACTOME:P00748 ; xref: ENSEMBL:ENSG00000131187] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 EXACT Congenital Hageman factor deficiency Hydranencephaly ICD10:Q04.3 Gene [OrphaNum:281616 ; Name:NudE nuclear distribution gene E homolog 1 (A. nidulans) ; Symbol:NDE1 ; xref: HGNC:17619 ; xref: OMIM:609449 ; xref: GENATLAS:NDE1 ; xref: UNIPROTKB/SWISSPROT:Q9NXR1 ; xref: ENSEMBL:ENSG00000072864 ; xref: REACTOME:Q9NXR1] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 OMIM:605013 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:236500 Orphanet ID- 837 Transient familial neonatal hyperbilirubinemia Lucey driscoll syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312 ICD10:P59.3 OMIM:308600 Lucey driscoll syndrome OMIM:237900 Gene [OrphaNum:120380 ; Name:UDP glucuronosyltransferase 1 family, polypeptide A1 ; Symbol:UGT1A1 ; xref: REACTOME:P22309 ; xref: GENATLAS:UGT1A1 ; xref: HGNC:12530 ; xref: OMIM:191740 ; xref: UNIPROTKB/SWISSPROT:P22309 ; xref: ENSEMBL:ENSG00000241635] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 838 EXACT Lucey driscoll syndrome Autosomal dominant hyper IgE syndrome AD-HIES Autosomal dominant HIES Autosomal dominant hyperimmunoglobulin E syndrome Buckley syndrome Hyperimmunoglobulin E syndrome type 1 Hyperimmunoglobulin E-recurrent infection syndrome Job syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Autosomal dominant hyperimmunoglobulin E syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 Autosomal dominant HIES Orphanet ID- 839 ICD10:D82.4 Job syndrome Buckley syndrome AD-HIES Hyperimmunoglobulin E syndrome type 1 Hyperimmunoglobulin E-recurrent infection syndrome Gene [OrphaNum:138523 ; Name:Signal transducer and activator of transcription 3 (acute-phase response factor) ; Symbol:STAT3 ; xref: GENATLAS:STAT3 ; xref: HGNC:11364 ; xref: OMIM:102582 ; xref: UNIPROTKB/SWISSPROT:P40763 ; xref: ENSEMBL:ENSG00000168610 ; xref: REACTOME:P40763] OMIM:147060 EXACT Buckley syndrome EXACT AD-HIES EXACT Autosomal dominant HIES EXACT Hyperimmunoglobulin E-recurrent infection syndrome EXACT Job syndrome EXACT Autosomal dominant hyperimmunoglobulin E syndrome EXACT Hyperimmunoglobulin E syndrome type 1 Laryngocele prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q31.3 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372 Orphanet ID- 840 Legg-Calve-Perthes disease Aseptic necrosis of the capital femoral epiphysis Osteochondritis of the capital femoral epiphysis Osteochondrosis of the capital femoral epiphysis Perthes disease Perthes disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380 Aseptic necrosis of the capital femoral epiphysis Osteochondritis of the capital femoral epiphysis Gene [OrphaNum:120710 ; Name:Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ; Symbol:COL2A1 ; xref: GENATLAS:COL2A1 ; xref: HGNC:2200 ; xref: OMIM:120140 ; xref: UNIPROTKB/SWISSPROT:P02458 ; xref: ENSEMBL:ENSG00000139219 ; xref: REACTOME:P02458] Osteochondrosis of the capital femoral epiphysis Orphanet ID- 841 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Multigenic/multifactorial; OMIM:150600 ICD10:M91.1 EXACT Aseptic necrosis of the capital femoral epiphysis EXACT Osteochondritis of the capital femoral epiphysis EXACT Perthes disease EXACT Osteochondrosis of the capital femoral epiphysis Progressive supranuclear palsy A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH). A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei (MeSH).[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] DOID:678 Ele Holloway James Malone MSH:D013494 NIFSTD:birnlex_12697 OMIM:601104 Progressive Supranuclear Ophthalmoplegia[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] Steele-Richardson-Olszewski Disease Steele-Richardson-Olszewski Disease[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] Steele-Richardson-Olszewski Syndrome Steele-Richardson-Olszewski Syndrome[accessedResource: NIFSTD:birnlex_12697][accessDate: 05-04-2011] Tomasz Adamusiak progressive supranuclear ophthalmoplegia progressive supranuclear ophthalmoplegia (disorder) progressive supranuclear ophthalmoplegia (disorder)[accessedResource: DOID:678][accessDate: 05-04-2011] progressive supranuclear palsy[accessedResource: DOID:678][accessDate: 05-04-2011] supranuclear palsy, progressive true Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 846 Juvenile gastrointestinal polyposis JIP JPS Juvenile intestinal polyposis Juvenile polyposis syndrome Gene [OrphaNum:119727 ; Name:SMAD family member 4 ; Symbol:SMAD4 ; xref: GENATLAS:SMAD4 ; xref: HGNC:6770 ; xref: OMIM:600993 ; xref: UNIPROTKB/SWISSPROT:Q13485 ; xref: ENSEMBL:ENSG00000141646 ; xref: REACTOME:Q13485] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 Gene [OrphaNum:119048 ; Name:Bone morphogenetic protein receptor, type IA ; Symbol:BMPR1A ; xref: GENATLAS:BMPR1A ; xref: HGNC:1076 ; xref: OMIM:601299 ; xref: UNIPROTKB/SWISSPROT:P36894 ; xref: REACTOME:P36894 ; xref: ENSEMBL:ENSG00000107779] JPS Orphanet ID- 848 OMIM:175050 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:D12.6 Gene [OrphaNum:121536 ; Name:Endoglin (Osler-Rendu-Weber syndrome 1) ; Symbol:ENG ; xref: GENATLAS:ENG ; xref: HGNC:3349 ; xref: OMIM:131195 ; xref: UNIPROTKB/SWISSPROT:P17813 ; xref: ENSEMBL:ENSG00000106991] OMIM:174900 JIP Juvenile polyposis syndrome Juvenile intestinal polyposis EXACT Juvenile intestinal polyposis EXACT Juvenile polyposis syndrome EXACT JPS EXACT JIP May-Hegglin thrombocytopenia prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:D69.4 Gene [OrphaNum:123628 ; Name:Myosin, heavy chain 9, non-muscle ; Symbol:MYH9 ; xref: GENATLAS:MYH9 ; xref: HGNC:7579 ; xref: OMIM:160775 ; xref: UNIPROTKB/SWISSPROT:P35579 ; xref: REACTOME:P35579 ; xref: ENSEMBL:ENSG00000100345] OMIM:155100 Orphanet ID- 850 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=850 Nephroblastoma A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.[accessedResource: MSH:D009396][accessDate: 05-04-2011] A malignant mixed tumor that affects the kidneys and typically located_in children. A malignant mixed tumor that affects the kidneys and typically located_in children.[accessedResource: DOID:2154][accessDate: 05-04-2011] A malignant mixed tumor that affects the kidneys and typically occurs in children. Bilateral Wilms Tumor Bilateral Wilms Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] DOID:2154 MSH:D009396 Nephroblastoma (disorder) Nephroblastoma (morphologic abnormality) Nephroblastoma NOS Nephroblastoma[accessedResource: MSH:D009396][accessDate: 05-04-2011] Nephroblastomas Nephroblastomas[accessedResource: MSH:D009396][accessDate: 05-04-2011] OMIM:194070 Renal embryonic tumor Tomasz Adamusiak Tumor, Bilateral Wilms Tumor, Bilateral Wilms[accessedResource: MSH:D009396][accessDate: 05-04-2011] Tumor, Wilms' Tumor, Wilms'[accessedResource: MSH:D009396][accessDate: 05-04-2011] Tumor, Wilms[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilm Tumor Wilm Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilm's Tumor Wilm's Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilms Tumor, Bilateral Wilms Tumor, Bilateral[accessedResource: MSH:D009396][accessDate: 05-04-2011] Wilms tumor Wilms' Tumor Wilms' Tumor[accessedResource: MSH:D009396][accessDate: 05-04-2011] renal Wilms tumor renal Wilms tumor[accessedResource: DOID:2154][accessDate: 05-04-2011] Gene [OrphaNum:120549 ; Name:Wilms tumor 1 ; Symbol:WT1 ; xref: ENSEMBL:ENSG00000184937 ; xref: GENATLAS:WT1 ; xref: HGNC:12796 ; xref: OMIM:607102 ; xref: UNIPROTKB/SWISSPROT:P19544] OMIM:601583 ICD10:C64 Gene [OrphaNum:117961 ; Name:POU class 6 homeobox 2 ; Symbol:POU6F2 ; xref: GENATLAS:POU6F2 ; xref: HGNC:21694 ; xref: OMIM:609062 ; xref: UNIPROTKB/SWISSPROT:P78424 ; xref: ENSEMBL:ENSG00000106536] OMIM:194090 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Sporadic; Gene [OrphaNum:293019 ; Name:DIS3 mitotic control homolog (S. cerevisiae)-like 2 ; Symbol:DIS3L2 ; xref: HGNC:28648 ; xref: UNIPROTKB/SWISSPROT:Q8IYB7 ; xref: GENATLAS:DIS3L2 ; xref: OMIM:614184] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654 OMIM:194070 Gene [OrphaNum:122248 ; Name:Glypican 3 ; Symbol:GPC3 ; xref: GENATLAS:GPC3 ; xref: HGNC:4451 ; xref: OMIM:300037 ; xref: UNIPROTKB/SWISSPROT:P51654 ; xref: ENSEMBL:ENSG00000147257] OMIM:194071 Orphanet ID- 852 Gene [OrphaNum:123340 ; Name:H19, imprinted maternally expressed untranslated mRNA ; Symbol:H19 ; xref: GENATLAS:H19 ; xref: HGNC:4713 ; xref: OMIM:103280 ; xref: ENSEMBL:ENSG00000130600] true Gene [OrphaNum:119072 ; Name:Breast cancer 2, early onset ; Symbol:BRCA2 ; xref: GENATLAS:BRCA2 ; xref: HGNC:1101 ; xref: OMIM:600185 ; xref: UNIPROTKB/SWISSPROT:P51587 ; xref: REACTOME:P51587 ; xref: ENSEMBL:ENSG00000139618] OMIM:601363 Niemann-Pick disease type C prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 ICD10:E75.2 Orphanet ID- 853 Epidermodysplasia verruciformis Lewandowsky-Lutz syndrome Lutz-Lewandowsky epidermodysplasia verruciformis Lewandowsky-Lutz syndrome Gene [OrphaNum:159303 ; Name:Transmembrane channel-like 6 ; Symbol:TMC6 ; xref: GENATLAS:TMC6 ; xref: HGNC:18021 ; xref: OMIM:605828 ; xref: UNIPROTKB/SWISSPROT:Q7Z403 ; xref: ENSEMBL:ENSG00000141524] OMIM:305350 Lutz-Lewandowsky epidermodysplasia verruciformis prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:159387 ; Name:Transmembrane channel-like 8 ; Symbol:TMC8 ; xref: GENATLAS:TMC8 ; xref: HGNC:20474 ; xref: OMIM:605829 ; xref: UNIPROTKB/SWISSPROT:Q8IU68 ; xref: ENSEMBL:ENSG00000167895] OMIM:226400 Orphanet ID- 8531 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 EXACT Lutz-Lewandowsky epidermodysplasia verruciformis EXACT Lewandowsky-Lutz syndrome Roch-Leri mesosomatous lipomatosis Orphanet ID- 8554 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529 prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Neonatal diabetes mellitus NDM prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224 ICD10:P70.2 OMIM:606176 OMIM:610582 NDM OMIM:610374 OMIM:600089 OMIM:125853 Orphanet ID- 8555 OMIM:609069 OMIM:601410 EXACT NDM Wagner disease Dominant hyaloideoretinal dystrophy of Wagner VCAN-related vitreoretinopathy Vitreoretinal degeneration, Wagner type Wagner syndrome Vitreoretinal degeneration, Wagner type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 VCAN-related vitreoretinopathy prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; ICD10:H35.5 Orphanet ID- 8564 Wagner syndrome Dominant hyaloideoretinal dystrophy of Wagner Gene [OrphaNum:120457 ; Name:Versican ; Symbol:VCAN ; xref: GENATLAS:VCAN ; xref: HGNC:2464 ; xref: OMIM:118661 ; xref: UNIPROTKB/SWISSPROT:P13611 ; xref: ENSEMBL:ENSG00000038427] OMIM:143200 EXACT Vitreoretinal degeneration, Wagner type EXACT VCAN-related vitreoretinopathy EXACT Dominant hyaloideoretinal dystrophy of Wagner EXACT Wagner syndrome Björnstad syndrome Deafness - pili torti - hypogonadism Deafness - pili torti - hypogonadism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 OMIM:262000 Gene [OrphaNum:119021 ; Name:BCS1-like ; Symbol:BCS1L ; xref: GENATLAS:BCS1L ; xref: HGNC:1020 ; xref: OMIM:603647 ; xref: UNIPROTKB/SWISSPROT:Q9Y276 ; xref: ENSEMBL:ENSG00000074582 ; xref: REACTOME:Q9Y276] Orphanet ID- 8566 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Deafness - pili torti - hypogonadism Pseudo-pelade of Brocq Orphanet ID- 8567 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=129 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic; Loose anagen syndrome Coloboma - hair abnormality OMIM:600628 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Coloboma - hair abnormality Orphanet ID- 8569 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168 EXACT Coloboma - hair abnormality Myeloperoxidase deficiency MPO deficiency Orphanet ID- 857 OMIM:254600 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2587 Gene [OrphaNum:123468 ; Name:Myeloperoxidase ; Symbol:MPO ; xref: GENATLAS:MPO ; xref: HGNC:7218 ; xref: OMIM:606989 ; xref: UNIPROTKB/SWISSPROT:P05164 ; xref: ENSEMBL:ENSG00000005381] ICD10:E80.3 MPO deficiency EXACT MPO deficiency Ringed hair disease Pili annulati ICD10:Q84.1 OMIM:180600 Pili annulati Orphanet ID- 8570 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; EXACT Pili annulati Woolly hair Familial woolly hair syndrome Familial wooly hair syndrome Hereditary woolly hair syndrome Hereditary wooly hair syndrome Wooly hair Hereditary woolly hair syndrome Orphanet ID- 8571 ICD10:Q84.2 Gene [OrphaNum:159333 ; Name:Lipase, member H ; Symbol:LIPH ; xref: GENATLAS:LIPH ; xref: HGNC:18483 ; xref: OMIM:607365 ; xref: UNIPROTKB/SWISSPROT:Q8WWY8 ; xref: ENSEMBL:ENSG00000163898] OMIM:194300 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Hereditary wooly hair syndrome Gene [OrphaNum:159166 ; Name:Lysophosphatidic acid receptor 6 ; Symbol:LPAR6 ; xref: GENATLAS:P2RY5 ; xref: HGNC:15520 ; xref: OMIM:609239 ; xref: UNIPROTKB/SWISSPROT:P43657 ; xref: ENSEMBL:ENSG00000139679 ; xref: REACTOME:P43657 ; xref: IUPHAR:163] Gene [OrphaNum:229791 ; Name:Keratin 74 ; Symbol:KRT74 ; xref: ENSEMBL:ENSG00000170484 ; xref: GENATLAS:KRT74 ; xref: HGNC:28929 ; xref: OMIM:608248 ; xref: UNIPROTKB/SWISSPROT:Q7RTS7] Wooly hair Familial woolly hair syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 Familial wooly hair syndrome OMIM:278150 EXACT Familial woolly hair syndrome EXACT Hereditary wooly hair syndrome EXACT Hereditary woolly hair syndrome EXACT Wooly hair EXACT Familial wooly hair syndrome Crandall syndrome Alopecia - deafness - hypogonadism Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202 Alopecia - deafness - hypogonadism Orphanet ID- 8572 prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Autosomal recessive; EXACT Alopecia - deafness - hypogonadism Quinquaud's decalvans folliculitis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=346 Orphanet ID- 8574 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic; Graham Little-Piccardi-Lassueur syndrome Graham Little syndrome Piccardi-Lassueur-Little syndrome Piccardi-Lassueur-Little syndrome Gene [OrphaNum:122424 ; Name:Major histocompatibility complex, class II, DR alpha ; Symbol:HLA-DRA ; xref: GENATLAS:HLA-DRA ; xref: HGNC:4947 ; xref: OMIM:142860 ; xref: UNIPROTKB/SWISSPROT:P01903 ; xref: ENSEMBL:ENSG00000204287 ; xref: REACTOME:P01903] ICD10:L66.1 Graham Little syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Orphanet ID- 8575 EXACT Graham Little syndrome EXACT Piccardi-Lassueur-Little syndrome Acquired hypertrichosis lanuginosa prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2221 Orphanet ID- 8576 ICD10:L68.1 Marie Unna congenital hypotrichosis prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444 OMIM:612841 Gene [OrphaNum:122495 ; Name:Hairless homolog (mouse) ; Symbol:HR ; xref: GENATLAS:HR ; xref: HGNC:5172 ; xref: OMIM:602302 ; xref: UNIPROTKB/SWISSPROT:O43593 ; xref: ENSEMBL:ENSG00000168453] Orphanet ID- 8577 OMIM:146550 Osteochondritis dissecans Orphanet ID- 858 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2764 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Monilethrix Orphanet ID- 8581 Gene [OrphaNum:159421 ; Name:Desmoglein 4 ; Symbol:DSG4 ; xref: GENATLAS:DSG4 ; xref: HGNC:21307 ; xref: OMIM:607892 ; xref: UNIPROTKB/SWISSPROT:Q86SJ6 ; xref: ENSEMBL:ENSG00000175065] OMIM:158000 Gene [OrphaNum:122940 ; Name:Keratin 86 ; Symbol:KRT86 ; xref: GENATLAS:KRT86 ; xref: HGNC:6463 ; xref: OMIM:601928 ; xref: UNIPROTKB/SWISSPROT:O43790 ; xref: ENSEMBL:ENSG00000258832] Gene [OrphaNum:122928 ; Name:Keratin 81 ; Symbol:KRT81 ; xref: GENATLAS:KRT81 ; xref: HGNC:6458 ; xref: OMIM:602153 ; xref: UNIPROTKB/SWISSPROT:Q14533 ; xref: ENSEMBL:ENSG00000205426] ICD10:Q84.1 OMIM:607903 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Gene [OrphaNum:122932 ; Name:Keratin 83 ; Symbol:KRT83 ; xref: GENATLAS:KRT83 ; xref: HGNC:6460 ; xref: OMIM:602765 ; xref: UNIPROTKB/SWISSPROT:P78385 ; xref: ENSEMBL:ENSG00000170523] Alopecia totalis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700 ICD10:L63.0 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Orphanet ID- 8583 OMIM:300042 Cutis verticis gyrata Orphanet ID- 8584 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=671 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Pili bifurcati ICD10:L67.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720 Orphanet ID- 8585 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Pili canulati Orphanet ID- 8586 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=719 Trichomalacia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=865 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Orphanet ID- 8588 Trichostasis spinulosa prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Sporadic; Orphanet ID- 8589 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=866 Arrhythmogenic right ventricular dysplasia ARVC ARVD Arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy (disorder) Arrhythmogenic right ventricular cardiomyopathy (disorder)[accessedResource: SNOMEDCT:281170005][accessDate: 05-04-2011] Arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular dysplasia[accessedResource: SNOMEDCT:281170005][accessDate: 05-04-2011] OMIM:604400 SNOMEDCT:281170005 Tomasz Adamusiak OMIM:609040 OMIM:604400 OMIM:607450 OMIM:604401 OMIM:611528 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 OMIM:602086 OMIM:602087 OMIM:107970 Orphanet ID- 8591 prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; ARVD/C OMIM:600996 Gene [OrphaNum:123010 ; Name:LIM domain binding 3 ; Symbol:LDB3 ; xref: GENATLAS:LDB3 ; xref: HGNC:15710 ; xref: OMIM:605906 ; xref: UNIPROTKB/SWISSPROT:O75112 ; xref: ENSEMBL:ENSG00000122367] OMIM:610476 ICD10:I42.8 OMIM:610193 OMIM:609160 Arrhythmogenic right ventricular dysplasia/cardiomyopathy Familial atrial fibrillation OMIM:607554 OMIM:608988 OMIM:614050 Gene [OrphaNum:291853 ; Name:GATA binding protein 6 ; Symbol:GATA6 ; xref: GENATLAS:GATA6 ; xref: HGNC:4174 ; xref: OMIM:601656 ; xref: ENSEMBL:ENSG00000141448 ; xref: UNIPROTKB/SWISSPROT:Q92908] OMIM:614049 Gene [OrphaNum:122763 ; Name:Potassium voltage-gated channel, Isk-related family, member 1 ; Symbol:KCNE1 ; xref: GENATLAS:KCNE1 ; xref: HGNC:6240 ; xref: OMIM:176261 ; xref: UNIPROTKB/SWISSPROT:P15382 ; xref: ENSEMBL:ENSG00000180509] Gene [OrphaNum:122035 ; Name:GATA binding protein 4 ; Symbol:GATA4 ; xref: GENATLAS:GATA4 ; xref: HGNC:4173 ; xref: OMIM:600576 ; xref: UNIPROTKB/SWISSPROT:P43694 ; xref: ENSEMBL:ENSG00000136574 ; xref: REACTOME:P43694] Gene [OrphaNum:122791 ; Name:Potassium inwardly-rectifying channel, subfamily J, member 2 ; Symbol:KCNJ2 ; xref: GENATLAS:KCNJ2 ; xref: HGNC:6263 ; xref: OMIM:600681 ; xref: UNIPROTKB/SWISSPROT:P63252 ; xref: IUPHAR:430 ; xref: ENSEMBL:ENSG00000123700 ; xref: REACTOME:P63252] OMIM:612240 OMIM:614022 Gene [OrphaNum:123797 ; Name:NK2 transcription factor related, locus 5 (Drosophila) ; Symbol:NKX2-5 ; xref: GENATLAS:NKX2-5 ; xref: HGNC:2488 ; xref: OMIM:600584 ; xref: UNIPROTKB/SWISSPROT:P52952 ; xref: ENSEMBL:ENSG00000183072] Gene [OrphaNum:183928 ; Name:Nucleoporin 155kDa ; Symbol:NUP155 ; xref: ENSEMBL:ENSG00000113569 ; xref: REACTOME:O75694 ; xref: GENATLAS:NUP155 ; xref: HGNC:8063 ; xref: OMIM:606694 ; xref: UNIPROTKB/SWISSPROT:O75694] OMIM:611494 OMIM:611493 Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] Gene [OrphaNum:168086 ; Name:Potassium voltage-gated channel, shaker-related subfamily, member 5 ; Symbol:KCNA5 ; xref: GENATLAS:KCNA5 ; xref: HGNC:6224 ; xref: OMIM:176267 ; xref: UNIPROTKB/SWISSPROT:P22460 ; xref: REACTOME:P22460 ; xref: IUPHAR:542 ; xref: ENSEMBL:ENSG00000130037] OMIM:613980 Gene [OrphaNum:117673 ; Name:ATP-binding cassette, sub-family C (CFTR/MRP), member 9 ; Symbol:ABCC9 ; xref: GENATLAS:ABCC9 ; xref: HGNC:60 ; xref: OMIM:601439 ; xref: UNIPROTKB/SWISSPROT:O60706 ; xref: ENSEMBL:ENSG00000069431 ; xref: REACTOME:O60706] Gene [OrphaNum:205584 ; Name:Natriuretic peptide precursor A ; Symbol:NPPA ; xref: REACTOME:P01160 ; xref: ENSEMBL:ENSG00000175206 ; xref: GENATLAS:NPPA ; xref: HGNC:7939 ; xref: OMIM:108780 ; xref: UNIPROTKB/SWISSPROT:P01160] OMIM:608583 OMIM:613055 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 OMIM:612201 Gene [OrphaNum:304191 ; Name:GATA binding protein 5 ; Symbol:GATA5 ; xref: HGNC:15802 ; xref: OMIM:611496 ; xref: GENATLAS:GATA5 ; xref: UNIPROTKB/SWISSPROT:Q9BWX5] ICD10:I48 Orphanet ID- 8592 Gene [OrphaNum:138503 ; Name:Gap junction protein, alpha 5, 40kDa ; Symbol:GJA5 ; xref: GENATLAS:GJA5 ; xref: HGNC:4279 ; xref: OMIM:121013 ; xref: UNIPROTKB/SWISSPROT:P36382 ; xref: ENSEMBL:ENSG00000143140 ; xref: REACTOME:P36382] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122800 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 1 ; Symbol:KCNQ1 ; xref: GENATLAS:KCNQ1 ; xref: HGNC:6294 ; xref: OMIM:607542 ; xref: UNIPROTKB/SWISSPROT:P51787 ; xref: REACTOME:P51787 ; xref: IUPHAR:560 ; xref: ENSEMBL:ENSG00000053918] Gene [OrphaNum:122770 ; Name:Potassium voltage-gated channel, Isk-related family, member 2 ; Symbol:KCNE2 ; xref: GENATLAS:KCNE2 ; xref: HGNC:6242 ; xref: OMIM:603796 ; xref: UNIPROTKB/SWISSPROT:Q9Y6J6 ; xref: ENSEMBL:ENSG00000159197] Familial atrial myxoma OMIM:255960 Orphanet ID- 8593 Gene [OrphaNum:118010 ; Name:Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) ; Symbol:PRKAR1A ; xref: GENATLAS:PRKAR1A ; xref: HGNC:9388 ; xref: OMIM:188830 ; xref: UNIPROTKB/SWISSPROT:P10644 ; xref: ENSEMBL:ENSG00000108946 ; xref: REACTOME:P10644] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial idiopathic dilatation of the right atrium Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 Orphanet ID- 8599 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Unknown; ICD10:Q20.8 Pityriasis rubra pilaris Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897 Gene [OrphaNum:304694 ; Name:Caspase recruitment domain family, member 14 ; Symbol:CARD14 ; xref: HGNC:16446 ; xref: OMIM:607211 ; xref: GENATLAS:CARD14 ; xref: UNIPROTKB/SWISSPROT:Q9BXL6] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Sporadic; ICD10:L44.0 OMIM:173200 Orphanet ID- 860 Ito hypomelanosis HI syndrome Hypomelanosis of Ito Incontinentia pigmenti type 1 Pigmentary mosaicism, Ito type Hypomelanosis of Ito Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435 Orphanet ID- 8619 ICD10:L81.8 OMIM:300337 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; Inheritance- X-linked recessive; Pigmentary mosaicism, Ito type HI syndrome Incontinentia pigmenti type 1 EXACT Hypomelanosis of Ito EXACT Incontinentia pigmenti type 1 EXACT Pigmentary mosaicism, Ito type EXACT HI syndrome Kindler syndrome KS Poikiloderma of Kindler Gene [OrphaNum:159172 ; Name:Fermitin family homolog 1 (Drosophila) ; Symbol:FERMT1 ; xref: GENATLAS:FERMT1 ; xref: HGNC:15889 ; xref: OMIM:607900 ; xref: UNIPROTKB/SWISSPROT:Q9BQL6 ; xref: ENSEMBL:ENSG00000101311] Poikiloderma of Kindler KS Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; ICD10:Q82.8 OMIM:173650 Orphanet ID- 8620 EXACT KS EXACT Poikiloderma of Kindler Ulerythema ophryogenesis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:604093 Orphanet ID- 8621 Junctional epidermolysis bullosa EBJ Epidermolysis bullosa atrophicans prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Epidermolysis bullosa atrophicans Orphanet ID- 8622 ICD10:Q81.8 EBJ Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305 EXACT EBJ EXACT Epidermolysis bullosa atrophicans Dystrophic epidermolysis bullosa Dermolytic epidermolysis bullosa EBD Epidermolysis bullosa dystrophica OMIM:131705 EBD OMIM:226600 Orphanet ID- 8623 OMIM:131850 Dermolytic epidermolysis bullosa Epidermolysis bullosa dystrophica Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303 ICD10:Q81.2 OMIM:131750 OMIM:226500 OMIM:604129 OMIM:132000 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT EBD EXACT Dermolytic epidermolysis bullosa EXACT Epidermolysis bullosa dystrophica Acrokeratoelastoidosis of Costa Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; OMIM:101850 Orphanet ID- 8624 Acropigmentation of Dohi Dyschromatosis symmetrica hereditaria OMIM:127400 Orphanet ID- 8626 Gene [OrphaNum:119502 ; Name:Adenosine deaminase, RNA-specific ; Symbol:ADAR ; xref: ENSEMBL:ENSG00000160710 ; xref: REACTOME:P55265 ; xref: GENATLAS:ADAR ; xref: HGNC:225 ; xref: OMIM:146920 ; xref: UNIPROTKB/SWISSPROT:P55265] Dyschromatosis symmetrica hereditaria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; EXACT Dyschromatosis symmetrica hereditaria Birt-Hogg-Dube syndrome Fibrofolliculomas with trichodiscomas and acrochordons Orphanet ID- 8627 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 OMIM:135150 Gene [OrphaNum:121839 ; Name:Folliculin ; Symbol:FLCN ; xref: HGNC:27310 ; xref: OMIM:607273 ; xref: UNIPROTKB/SWISSPROT:Q8NFG4 ; xref: GENATLAS:FLCN ; xref: ENSEMBL:ENSG00000154803] prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Fibrofolliculomas with trichodiscomas and acrochordons EXACT Fibrofolliculomas with trichodiscomas and acrochordons Familial cylindromatosis 'Turban tumor' syndrome Turban tumor syndrome Orphanet ID- 8629 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:132700 'Turban tumor' syndrome Turban tumor syndrome Gene [OrphaNum:120940 ; Name:Cylindromatosis (turban tumor syndrome) ; Symbol:CYLD ; xref: REACTOME:Q9NQC7 ; xref: GENATLAS:CYLD ; xref: HGNC:2584 ; xref: OMIM:605018 ; xref: UNIPROTKB/SWISSPROT:Q9NQC7 ; xref: ENSEMBL:ENSG00000083799] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 EXACT 'Turban tumor' syndrome EXACT Turban tumor syndrome Tuberculosis true ICD10:A15-A19 prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Sporadic; Orphanet ID- 863 OMIM:607948 Gene [OrphaNum:158401 ; Name:Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 ; Symbol:SLC11A1 ; xref: ENSEMBL:ENSG00000018280 ; xref: REACTOME:P49279 ; xref: GENATLAS:SLC11A1 ; xref: HGNC:10907 ; xref: OMIM:600266 ; xref: UNIPROTKB/SWISSPROT:P49279] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3389 Dyschromatosis universalis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241 OMIM:127500 Orphanet ID- 8630 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:612715 Progressive symmetric erythrokeratodermia Darier-Gottron disease Progressiva symmetrica erythrokeratodermia Darier-Gottron disease Orphanet ID- 8631 Progressiva symmetrica erythrokeratodermia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 Gene [OrphaNum:123105 ; Name:Loricrin ; Symbol:LOR ; xref: GENATLAS:LOR ; xref: HGNC:6663 ; xref: OMIM:152445 ; xref: UNIPROTKB/SWISSPROT:P23490 ; xref: ENSEMBL:ENSG00000203782] OMIM:133200 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; EXACT Darier-Gottron disease EXACT Progressiva symmetrica erythrokeratodermia Erythrokeratoderma "en cocardes" Degos genodermatosis en cocardes Orphanet ID- 8632 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Degos genodermatosis en cocardes EXACT Degos genodermatosis en cocardes Familial multiple fibrofolliculoma prevalence- 1 / 1 000 000; AgeOfOnset- No data available; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=338 Orphanet ID- 8633 Palmoplantar keratoderma - sclerodactyly Huriez syndrome Scleroatrophic syndrome Scleroatrophic syndrome Orphanet ID- 8634 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Huriez syndrome OMIM:181600 EXACT Huriez syndrome EXACT Scleroatrophic syndrome Thost-Unna palmoplantar keratoderma Non-epidermolytic palmoplantar keratoderma Gene [OrphaNum:225368 ; Name:Keratin 6C ; Symbol:KRT6C ; xref: ENSEMBL:ENSG00000170465 ; xref: GENATLAS:KRT6C ; xref: HGNC:20406 ; xref: UNIPROTKB/SWISSPROT:P48668 ; xref: OMIM:612315] Orphanet ID- 8637 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Gene [OrphaNum:122887 ; Name:Keratin 1 ; Symbol:KRT1 ; xref: GENATLAS:KRT1 ; xref: HGNC:6412 ; xref: OMIM:139350 ; xref: UNIPROTKB/SWISSPROT:P04264 ; xref: ENSEMBL:ENSG00000167768] Gene [OrphaNum:122901 ; Name:Keratin 16 (focal non-epidermolytic palmoplantar keratoderma) ; Symbol:KRT16 ; xref: GENATLAS:KRT16 ; xref: HGNC:6423 ; xref: OMIM:148067 ; xref: UNIPROTKB/SWISSPROT:P08779 ; xref: ENSEMBL:ENSG00000186832] ICD10:Q82.8 OMIM:600962 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496 Non-epidermolytic palmoplantar keratoderma EXACT Non-epidermolytic palmoplantar keratoderma Hyperkeratosis lenticularis perstans Flegel disease prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 8638 Flegel disease OMIM:149500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409 OMIM:144150 EXACT Flegel disease Follicular ichthyosis prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 8642 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459 Familial keratoacanthoma Hereditary keratoacanthoma Multiple keratoacanthoma Orphanet ID- 8645 Hereditary keratoacanthoma Multiple keratoacanthoma prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:L85.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493 EXACT Multiple keratoacanthoma EXACT Hereditary keratoacanthoma Keratosis pilaris atrophicans Orphanet ID- 8647 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498 Erythroderma desquamativa Leiner disease Orphanet ID- 8648 Leiner disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Leiner disease Familial leiomyomatosis Familial leiomyomatosis with renal carcinoma Familial leiomyomatosis with renal cell cancer Familial multiple cutaneous leiomyomas HLRCC Hereditary leiomyomatosis Hereditary leiomyomatosis with renal carcinoma Hereditary leiomyomatosis with renal cell cancer Hereditary multiple cutaneous leiomyomas Multiple cutaneous and uterine leiomyomas ICD10:D21.9 Familial leiomyomatosis with renal carcinoma HLRCC Hereditary leiomyomatosis with renal cell cancer OMIM:150700 Orphanet ID- 8649 Hereditary leiomyomatosis Familial multiple cutaneous leiomyomas Familial leiomyomatosis with renal cell cancer prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:150699 Hereditary leiomyomatosis with renal carcinoma Multiple cutaneous and uterine leiomyomas Hereditary multiple cutaneous leiomyomas OMIM:150800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 Gene [OrphaNum:121823 ; Name:Fumarate hydratase ; Symbol:FH ; xref: GENATLAS:FH ; xref: HGNC:3700 ; xref: OMIM:136850 ; xref: UNIPROTKB/SWISSPROT:P07954 ; xref: REACTOME:P07954 ; xref: ENSEMBL:ENSG00000091483] EXACT Hereditary leiomyomatosis with renal cell cancer EXACT Hereditary leiomyomatosis with renal carcinoma EXACT Hereditary multiple cutaneous leiomyomas EXACT Familial leiomyomatosis with renal carcinoma EXACT Hereditary leiomyomatosis EXACT Familial leiomyomatosis with renal cell cancer EXACT Multiple cutaneous and uterine leiomyomas EXACT HLRCC EXACT Familial multiple cutaneous leiomyomas Lipoid proteinosis Hyalinosis cutis et mucosae Urbach-Wiethe disease Gene [OrphaNum:121261 ; Name:Extracellular matrix protein 1 ; Symbol:ECM1 ; xref: GENATLAS:ECM1 ; xref: HGNC:3153 ; xref: OMIM:602201 ; xref: UNIPROTKB/SWISSPROT:Q16610 ; xref: ENSEMBL:ENSG00000143369] ICD10:E75.5 Orphanet ID- 8650 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Urbach-Wiethe disease Hyalinosis cutis et mucosae Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 OMIM:247100 EXACT Urbach-Wiethe disease EXACT Hyalinosis cutis et mucosae Olmsted syndrome Keratodermia palmoplantar periorificial, Olmsted type Orphanet ID- 8652 Gene [OrphaNum:294456 ; Name:Transient receptor potential cation channel, subfamily V, member 3 ; Symbol:TRPV3 ; xref: HGNC:18084 ; xref: OMIM:607066 ; xref: GENATLAS:TRPV3 ; xref: UNIPROTKB/SWISSPROT:Q8NET8] Keratodermia palmoplantar periorificial, Olmsted type ICD10:Q82.8 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Inheritance- X-linked recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659 OMIM:614594 EXACT Keratodermia palmoplantar periorificial, Olmsted type Porokeratosis of Mibelli OMIM:175800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 8653 Palmoplantar porokeratosis of Mantoux prevalence- Unknown; AgeOfOnset- No data available; AgeOfDeath-No data available; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=736 Orphanet ID- 8654 Porokeratosis plantaris palmaris and disseminata Orphanet ID- 8655 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 OMIM:175850 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Sebocystomatosis ICD10:L72.2 Orphanet ID- 8656 Gene [OrphaNum:122904 ; Name:Keratin 17 ; Symbol:KRT17 ; xref: GENATLAS:KRT17 ; xref: HGNC:6427 ; xref: OMIM:148069 ; xref: UNIPROTKB/SWISSPROT:Q04695 ; xref: ENSEMBL:ENSG00000128422] prevalence- Unknown; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; OMIM:184500 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841 Peeling skin syndrome Deciduous skin Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817 ICD10:Q80.8 Orphanet ID- 8657 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Deciduous skin EXACT Deciduous skin Familial multiple trichoepithelioma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 Gene [OrphaNum:120940 ; Name:Cylindromatosis (turban tumor syndrome) ; Symbol:CYLD ; xref: REACTOME:Q9NQC7 ; xref: GENATLAS:CYLD ; xref: HGNC:2584 ; xref: OMIM:605018 ; xref: UNIPROTKB/SWISSPROT:Q9NQC7 ; xref: ENSEMBL:ENSG00000083799] OMIM:612099 OMIM:601606 Orphanet ID- 8659 ICD10:D23.3 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Malignant atrophic papulosis Degos disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; ICD10:I82.9 Orphanet ID- 8660 Degos disease OMIM:602248 EXACT Degos disease Normosmic congenital hypogonadotropic hypogonadism Gonadotropic deficiency Isolated congenital gonadotropin deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 Gene [OrphaNum:178814 ; Name:Tachykinin 3 ; Symbol:TAC3 ; xref: GENATLAS:TAC3 ; xref: HGNC:11521 ; xref: OMIM:162330 ; xref: UNIPROTKB/SWISSPROT:Q9UHF0 ; xref: ENSEMBL:ENSG00000166863 ; xref: REACTOME:Q9UHF0] Gene [OrphaNum:173149 ; Name:Fibroblast growth factor 8 (androgen-induced) ; Symbol:FGF8 ; xref: GENATLAS:FGF8 ; xref: HGNC:3686 ; xref: OMIM:600483 ; xref: UNIPROTKB/SWISSPROT:P55075 ; xref: ENSEMBL:ENSG00000107831 ; xref: REACTOME:P55075] OMIM:227200 prevalence- null; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; ICD10:E23.0 Gene [OrphaNum:244406 ; Name:WD repeat domain 11 ; Symbol:WDR11 ; xref: GENATLAS:WDR11 ; xref: HGNC:13831 ; xref: OMIM:606417 ; xref: UNIPROTKB/SWISSPROT:Q9BZH6 ; xref: ENSEMBL:ENSG00000120008] Gene [OrphaNum:121802 ; Name:Fibroblast growth factor receptor 1 ; Symbol:FGFR1 ; xref: GENATLAS:FGFR1 ; xref: HGNC:3688 ; xref: OMIM:136350 ; xref: UNIPROTKB/SWISSPROT:P11362 ; xref: ENSEMBL:ENSG00000077782 ; xref: REACTOME:P11362] OMIM:146110 OMIM:228300 Gonadotropic deficiency Gene [OrphaNum:123757 ; Name:Nasal embryonic LHRH factor ; Symbol:NELF ; xref: GENATLAS:NELF ; xref: HGNC:29843 ; xref: OMIM:608137 ; xref: UNIPROTKB/SWISSPROT:Q6X4W1 ; xref: ENSEMBL:ENSG00000165802] Gene [OrphaNum:118044 ; Name:Prokineticin receptor 2 ; Symbol:PROKR2 ; xref: GENATLAS:PROKR2 ; xref: HGNC:15836 ; xref: OMIM:607123 ; xref: UNIPROTKB/SWISSPROT:Q8NFJ6 ; xref: ENSEMBL:ENSG00000101292 ; xref: REACTOME:Q8NFJ6 ; xref: IUPHAR:336] Gene [OrphaNum:281487 ; Name:Heparan sulfate 6-O-sulfotransferase 1 ; Symbol:HS6ST1 ; xref: ENSEMBL:ENSG00000136720 ; xref: OMIM:604846 ; xref: HGNC:5201 ; xref: GENATLAS:HS6ST1 ; xref: UNIPROTKB/SWISSPROT:O60243] Orphanet ID- 8668 Gene [OrphaNum:122226 ; Name:Gonadotropin-releasing hormone receptor ; Symbol:GNRHR ; xref: GENATLAS:GNRHR ; xref: HGNC:4421 ; xref: OMIM:138850 ; xref: UNIPROTKB/SWISSPROT:P30968 ; xref: ENSEMBL:ENSG00000109163 ; xref: IUPHAR:256 ; xref: REACTOME:P30968] Gene [OrphaNum:159628 ; Name:Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) ; Symbol:GNRH1 ; xref: ENSEMBL:ENSG00000147437 ; xref: GENATLAS:GNRH1 ; xref: HGNC:4419 ; xref: OMIM:152760 ; xref: UNIPROTKB/SWISSPROT:P01148 ; xref: REACTOME:P01148] Gene [OrphaNum:178819 ; Name:Tachykinin receptor 3 ; Symbol:TACR3 ; xref: GENATLAS:TACR3 ; xref: HGNC:11528 ; xref: OMIM:162332 ; xref: UNIPROTKB/SWISSPROT:P29371 ; xref: REACTOME:P29371 ; xref: IUPHAR:362 ; xref: ENSEMBL:ENSG00000169836] Gene [OrphaNum:118039 ; Name:Prokineticin 2 ; Symbol:PROK2 ; xref: OMIM:607002 ; xref: UNIPROTKB/SWISSPROT:Q9HC23 ; xref: GENATLAS:PROK2 ; xref: HGNC:18455 ; xref: ENSEMBL:ENSG00000163421 ; xref: REACTOME:Q9HC23] Isolated congenital gonadotropin deficiency Gene [OrphaNum:122857 ; Name:KISS1 receptor ; Symbol:KISS1R ; xref: GENATLAS:KISS1R ; xref: HGNC:4510 ; xref: OMIM:604161 ; xref: UNIPROTKB/SWISSPROT:Q969F8 ; xref: ENSEMBL:ENSG00000116014 ; xref: IUPHAR:266 ; xref: REACTOME:Q969F8] Gene [OrphaNum:119389 ; Name:Chromodomain helicase DNA binding protein 7 ; Symbol:CHD7 ; xref: GENATLAS:CHD7 ; xref: HGNC:20626 ; xref: OMIM:608892 ; xref: UNIPROTKB/SWISSPROT:Q9P2D1 ; xref: ENSEMBL:ENSG00000171316] Gene [OrphaNum:292693 ; Name:KiSS-1 metastasis-suppressor ; Symbol:KISS1 ; xref: HGNC:6341 ; xref: OMIM:603286 ; xref: GENATLAS:KISS1 ; xref: UNIPROTKB/SWISSPROT:Q15726] EXACT Isolated congenital gonadotropin deficiency EXACT Gonadotropic deficiency Aromatase deficiency Gene [OrphaNum:120969 ; Name:Cytochrome P450, family 19, subfamily A, polypeptide 1 ; Symbol:CYP19A1 ; xref: GENATLAS:CYP19A1 ; xref: HGNC:2594 ; xref: OMIM:107910 ; xref: UNIPROTKB/SWISSPROT:P11511 ; xref: REACTOME:P11511 ; xref: ENSEMBL:ENSG00000137869] prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:613546 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 ICD10:E25.8 Orphanet ID- 8670 Glucocorticoid resistance OMIM:138040 ICD10:E25.8 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Orphanet ID- 8672 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 Gene [OrphaNum:123916 ; Name:Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) ; Symbol:NR3C1 ; xref: GENATLAS:NR3C1 ; xref: HGNC:7978 ; xref: OMIM:138040 ; xref: UNIPROTKB/SWISSPROT:P04150 ; xref: IUPHAR:625 ; xref: ENSEMBL:ENSG00000113580 ; xref: REACTOME:P04150] Central precocious puberty Gonadotropin-dependant precocious puberty prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=759 Gonadotropin-dependant precocious puberty OMIM:176400 ICD10:E22.8 Orphanet ID- 8674 EXACT Gonadotropin-dependant precocious puberty Nonacquired combined pituitary hormone deficiency Congenital combined pituitary hormone deficiency Congenital hypopituitarism prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-null; OMIM:262600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467 OMIM:312000 ICD10:E23.0 Orphanet ID- 8680 Congenital combined pituitary hormone deficiency Congenital hypopituitarism EXACT Congenital hypopituitarism EXACT Congenital combined pituitary hormone deficiency Gorham-Stout disease Diffuse cystic angiomatosis of bone Essential osteolysis Gorham disease Gorham syndrome Idiopathic massive osteolysis Massive osteolysis Phantom bone disease Progressive massive osteolysis Vanishing bone disease prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Gorham disease Essential osteolysis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 Diffuse cystic angiomatosis of bone Orphanet ID- 8684 OMIM:123880 Vanishing bone disease Phantom bone disease Gorham syndrome Progressive massive osteolysis Idiopathic massive osteolysis Massive osteolysis EXACT Diffuse cystic angiomatosis of bone EXACT Vanishing bone disease EXACT Gorham disease EXACT Gorham syndrome EXACT Progressive massive osteolysis EXACT Idiopathic massive osteolysis EXACT Phantom bone disease EXACT Massive osteolysis EXACT Essential osteolysis Reflex epilepsy ICD10:G40.8 OMIM:613339 OMIM:226800 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Orphanet ID- 8688 OMIM:132100 OMIM:613340 OMIM:132300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310 X-linked thrombocytopenia with normal platelets OMIM:313900 Orphanet ID- 8690 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852 ICD10:D69.4 Gene [OrphaNum:120490 ; Name:Wiskott-Aldrich syndrome (eczema-thrombocytopenia) ; Symbol:WAS ; xref: GENATLAS:WAS ; xref: HGNC:12731 ; xref: OMIM:300392 ; xref: UNIPROTKB/SWISSPROT:P42768 ; xref: ENSEMBL:ENSG00000015285 ; xref: REACTOME:P42768] Congenital plasminogen activator inhibitor type 1 deficiency Congenital PAI-1 deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 Orphanet ID- 8691 ICD10:D68.8 OMIM:613329 Congenital PAI-1 deficiency Gene [OrphaNum:118613 ; Name:Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 ; Symbol:SERPINE1 ; xref: GENATLAS:SERPINE1 ; xref: HGNC:8583 ; xref: OMIM:173360 ; xref: UNIPROTKB/SWISSPROT:P05121 ; xref: ENSEMBL:ENSG00000106366 ; xref: REACTOME:P05121] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Congenital PAI-1 deficiency Congenital high-molecular-weight kininogen deficiency Orphanet ID- 8693 OMIM:228960 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483 Gene [OrphaNum:122875 ; Name:Kininogen 1 ; Symbol:KNG1 ; xref: GENATLAS:KNG1 ; xref: HGNC:6383 ; xref: OMIM:612358 ; xref: UNIPROTKB/SWISSPROT:P01042 ; xref: ENSEMBL:ENSG00000113889 ; xref: REACTOME:P01042] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D68.8 Hypoplasminogenemia Plasminogen deficiency type 1 Orphanet ID- 8694 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; OMIM:217090 Gene [OrphaNum:117886 ; Name:Plasminogen ; Symbol:PLG ; xref: GENATLAS:PLG ; xref: HGNC:9071 ; xref: OMIM:173350 ; xref: UNIPROTKB/SWISSPROT:P00747 ; xref: ENSEMBL:ENSG00000122194 ; xref: REACTOME:P00747] Plasminogen deficiency type 1 EXACT Plasminogen deficiency type 1 Congenital prekallikrein deficiency OMIM:612423 Gene [OrphaNum:122872 ; Name:Kallikrein B, plasma (Fletcher factor) 1 ; Symbol:KLKB1 ; xref: GENATLAS:KLKB1 ; xref: HGNC:6371 ; xref: OMIM:229000 ; xref: UNIPROTKB/SWISSPROT:P03952 ; xref: REACTOME:P03952 ; xref: ENSEMBL:ENSG00000164344] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 8695 ICD10:D68.8 Alpha delta granule deficiency Alpha dense granule deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:D69.1 Orphanet ID- 8696 Alpha dense granule deficiency EXACT Alpha dense granule deficiency Gray platelet syndrome Alpha storage pool deficiency GPS Grey platelet syndrome Platelet alpha-granule deficiency Orphanet ID- 8697 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 Platelet alpha-granule deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Alpha storage pool deficiency OMIM:139090 GPS Grey platelet syndrome ICD10:D69.1 Gene [OrphaNum:279603 ; Name:Neurobeachin-like 2 ; Symbol:NBEAL2 ; xref: ENSEMBL:ENSG00000160796 ; xref: HGNC:31928 ; xref: UNIPROTKB/SWISSPROT:Q6ZNJ1 ; xref: OMIM:614169] EXACT Alpha storage pool deficiency EXACT Grey platelet syndrome EXACT Platelet alpha-granule deficiency EXACT GPS Atresia of urethra Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 ICD10:Q64.3 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 8698 Duplication of urethra prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 ICD10:Q64.7 Orphanet ID- 8699 Autosomal recessive limb girdle muscular dystrophy type 2A LGMD2A Limb girdle muscular dystrophy due to calpain deficiency Primary calpainopathy Primary calpainopathy Limb girdle muscular dystrophy due to calpain deficiency Orphanet ID- 870 OMIM:253600 ICD10:G71.0 LGMD2A Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:119172 ; Name:Calpain 3, (p94) ; Symbol:CAPN3 ; xref: GENATLAS:CAPN3 ; xref: HGNC:1480 ; xref: OMIM:114240 ; xref: UNIPROTKB/SWISSPROT:P20807 ; xref: ENSEMBL:ENSG00000092529] EXACT LGMD2A EXACT Limb girdle muscular dystrophy due to calpain deficiency EXACT Primary calpainopathy Congenital primary megaureter Congenital primary megalo-ureter Congenital primary megalo-ureter Orphanet ID- 8700 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 ICD10:Q62.2 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Unknown; EXACT Congenital primary megalo-ureter Urachal cyst prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 ICD10:Q64.4 Orphanet ID- 8701 Digestive duplication Orphanet ID- 8703 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:Q45.8 Neonatal ovarian cyst Fetal ovarian cyst Orphanet ID- 8706 Fetal ovarian cyst Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=491 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Fetal ovarian cyst Accessory pancreas Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674 ICD10:Q45.3 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Orphanet ID- 8707 Penis agenesis Aphallia Orphanet ID- 8708 ICD10:Q55.5 Aphallia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; EXACT Aphallia Diphallia prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 Orphanet ID- 8709 ICD10:Q55.6 Common mesentery prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 8710 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620 ICD10:Q43.3 Autosomal recessive limb-girdle muscular dystrophy type 2E Beta-sarcoglycanopathy LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Beta-sarcoglycanopathy Gene [OrphaNum:118653 ; Name:Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) ; Symbol:SGCB ; xref: GENATLAS:SGCB ; xref: HGNC:10806 ; xref: OMIM:600900 ; xref: UNIPROTKB/SWISSPROT:Q16585 ; xref: ENSEMBL:ENSG00000163069] LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:604286 ICD10:G71.0 Orphanet ID- 8715 EXACT Beta-sarcoglycanopathy EXACT LGMD2E EXACT Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Autosomal recessive limb-girdle muscular dystrophy type 2C Gamma-sarcoglycanopathy LGMD2C Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Gamma-sarcoglycanopathy ICD10:G71.0 Gene [OrphaNum:118666 ; Name:Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) ; Symbol:SGCG ; xref: GENATLAS:SGCG ; xref: HGNC:10809 ; xref: OMIM:608896 ; xref: UNIPROTKB/SWISSPROT:Q13326 ; xref: ENSEMBL:ENSG00000102683] prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 LGMD2C OMIM:253700 Orphanet ID- 8716 Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency EXACT Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency EXACT LGMD2C EXACT Gamma-sarcoglycanopathy Autosomal recessive limb-girdle muscular dystrophy type 2F Delta-sarcoglycanopathy LGMD2F Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency OMIM:601287 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:118658 ; Name:Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) ; Symbol:SGCD ; xref: GENATLAS:SGCD ; xref: HGNC:10807 ; xref: OMIM:601411 ; xref: UNIPROTKB/SWISSPROT:Q92629 ; xref: ENSEMBL:ENSG00000170624] Orphanet ID- 8717 LGMD2F Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Delta-sarcoglycanopathy ICD10:G71.0 EXACT Delta-sarcoglycanopathy EXACT Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency EXACT LGMD2F Autosomal dominant limb-girdle muscular dystrophy type 1A LGMD1A Limb-girdle muscular dystrophy due to myotilin deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=266 ICD10:G71.0 Orphanet ID- 8718 Gene [OrphaNum:123664 ; Name:Myotilin ; Symbol:MYOT ; xref: GENATLAS:MYOT ; xref: HGNC:12399 ; xref: OMIM:604103 ; xref: UNIPROTKB/SWISSPROT:Q9UBF9 ; xref: ENSEMBL:ENSG00000120729] Limb-girdle muscular dystrophy due to myotilin deficiency OMIM:159000 LGMD1A EXACT LGMD1A EXACT Limb-girdle muscular dystrophy due to myotilin deficiency Autosomal dominant limb-girdle muscular dystrophy type 1B LGMD1B Limb-girdle muscular dystrophy due to lamin A/C deficiency Limb-girdle muscular dystrophy due to lamin A/C deficiency Orphanet ID- 8719 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264 Gene [OrphaNum:123090 ; Name:Lamin A/C ; Symbol:LMNA ; xref: GENATLAS:LMNA ; xref: HGNC:6636 ; xref: OMIM:150330 ; xref: UNIPROTKB/SWISSPROT:P02545 ; xref: ENSEMBL:ENSG00000160789 ; xref: REACTOME:P02545] ICD10:G71.0 LGMD1B OMIM:159001 EXACT LGMD1B EXACT Limb-girdle muscular dystrophy due to lamin A/C deficiency Mucopolysaccharidosis type 4 Morquio disease Gene [OrphaNum:122002 ; Name:Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) ; Symbol:GALNS ; xref: GENATLAS:GALNS ; xref: HGNC:4122 ; xref: OMIM:253000 ; xref: UNIPROTKB/SWISSPROT:P34059 ; xref: ENSEMBL:ENSG00000141012] Orphanet ID- 872 OMIM:253010 ICD10:E76.2 Gene [OrphaNum:122156 ; Name:Galactosidase, beta 1 ; Symbol:GLB1 ; xref: GENATLAS:GLB1 ; xref: HGNC:4298 ; xref: UNIPROTKB/SWISSPROT:P16278 ; xref: OMIM:611458 ; xref: REACTOME:P16278 ; xref: ENSEMBL:ENSG00000170266] OMIM:253000 OMIM:252300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 Morquio disease prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT Morquio disease Autosomal recessive limb-girdle muscular dystrophy type 2B LGMD2B Limb-girdle muscular dystrophy due to dysferlin deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 Limb-girdle muscular dystrophy due to dysferlin deficiency ICD10:G71.0 LGMD2B Orphanet ID- 8720 OMIM:253601 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:121246 ; Name:Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) ; Symbol:DYSF ; xref: GENATLAS:DYSF ; xref: HGNC:3097 ; xref: OMIM:603009 ; xref: UNIPROTKB/SWISSPROT:O75923 ; xref: ENSEMBL:ENSG00000135636] EXACT Limb-girdle muscular dystrophy due to dysferlin deficiency EXACT LGMD2B Autosomal dominant limb-girdle muscular dystrophy type 1C LGMD1C Limb-girdle muscular dystrophy due to caveolin-3 deficiency OMIM:607801 Gene [OrphaNum:119194 ; Name:Caveolin 3 ; Symbol:CAV3 ; xref: GENATLAS:CAV3 ; xref: HGNC:1529 ; xref: OMIM:601253 ; xref: UNIPROTKB/SWISSPROT:P56539 ; xref: ENSEMBL:ENSG00000182533] Limb-girdle muscular dystrophy due to caveolin-3 deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; LGMD1C ICD10:G71.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=265 Orphanet ID- 8721 EXACT Limb-girdle muscular dystrophy due to caveolin-3 deficiency EXACT LGMD1C Congenital muscular dystrophy, Fukuyama type FCMD Fukuyama congenital muscular dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Fukuyama congenital muscular dystrophy ICD10:G71.2 Orphanet ID- 8724 OMIM:253800 ICD10:Q04.3 Gene [OrphaNum:121775 ; Name:Fukutin ; Symbol:FKTN ; xref: GENATLAS:FKTN ; xref: HGNC:3622 ; xref: OMIM:607440 ; xref: UNIPROTKB/SWISSPROT:O75072 ; xref: ENSEMBL:ENSG00000106692] FCMD EXACT FCMD EXACT Fukuyama congenital muscular dystrophy Walker-Warburg syndrome HARD syndrome Hydrocephalus - agyria - retinal dysplasia Hydrocephalus-agyria-retinal dysplasia syndrome Gene [OrphaNum:120716 ; Name:Collagen, type IV, alpha 1 ; Symbol:COL4A1 ; xref: GENATLAS:COL4A1 ; xref: HGNC:2202 ; xref: OMIM:120130 ; xref: UNIPROTKB/SWISSPROT:P02462 ; xref: ENSEMBL:ENSG00000187498 ; xref: REACTOME:P02462] Gene [OrphaNum:121775 ; Name:Fukutin ; Symbol:FKTN ; xref: GENATLAS:FKTN ; xref: HGNC:3622 ; xref: OMIM:607440 ; xref: UNIPROTKB/SWISSPROT:O75072 ; xref: ENSEMBL:ENSG00000106692] Gene [OrphaNum:117942 ; Name:Protein-O-mannosyltransferase 2 ; Symbol:POMT2 ; xref: GENATLAS:POMT2 ; xref: HGNC:19743 ; xref: OMIM:607439 ; xref: UNIPROTKB/SWISSPROT:Q9UKY4 ; xref: ENSEMBL:ENSG00000009830] Gene [OrphaNum:122992 ; Name:Like-glycosyltransferase ; Symbol:LARGE ; xref: GENATLAS:LARGE ; xref: HGNC:6511 ; xref: OMIM:603590 ; xref: UNIPROTKB/SWISSPROT:O95461 ; xref: ENSEMBL:ENSG00000133424] Gene [OrphaNum:121835 ; Name:Fukutin related protein ; Symbol:FKRP ; xref: GENATLAS:FKRP ; xref: HGNC:17997 ; xref: OMIM:606596 ; xref: UNIPROTKB/SWISSPROT:Q9H9S5 ; xref: ENSEMBL:ENSG00000181027] HARD syndrome Gene [OrphaNum:302938 ; Name:Isoprenoid synthase domain containing ; Symbol:ISPD ; xref: HGNC:37276 ; xref: OMIM:614631 ; xref: UNIPROTKB/SWISSPROT:A4D126] ICD10:G71.2 OMIM:614643 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 Gene [OrphaNum:117939 ; Name:Protein-O-mannosyltransferase 1 ; Symbol:POMT1 ; xref: GENATLAS:POMT1 ; xref: HGNC:9202 ; xref: OMIM:607423 ; xref: UNIPROTKB/SWISSPROT:Q9Y6A1 ; xref: ENSEMBL:ENSG00000130714] ICD10:Q04.3 OMIM:236670 Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocephalus - agyria - retinal dysplasia OMIM:613150 Orphanet ID- 8725 OMIM:613154 Gene [OrphaNum:117935 ; Name:Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase ; Symbol:POMGNT1 ; xref: GENATLAS:POMGNT1 ; xref: HGNC:19139 ; xref: OMIM:606822 ; xref: UNIPROTKB/SWISSPROT:Q8WZA1 ; xref: ENSEMBL:ENSG00000085998] OMIM:613153 EXACT Hydrocephalus-agyria-retinal dysplasia syndrome EXACT Hydrocephalus - agyria - retinal dysplasia EXACT HARD syndrome Muscle eye brain disease MEB syndrome Muscle-Eye-Brain syndrome Santavuori disease Gene [OrphaNum:117942 ; Name:Protein-O-mannosyltransferase 2 ; Symbol:POMT2 ; xref: GENATLAS:POMT2 ; xref: HGNC:19743 ; xref: OMIM:607439 ; xref: UNIPROTKB/SWISSPROT:Q9UKY4 ; xref: ENSEMBL:ENSG00000009830] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:Q04.3 Gene [OrphaNum:117935 ; Name:Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase ; Symbol:POMGNT1 ; xref: GENATLAS:POMGNT1 ; xref: HGNC:19139 ; xref: OMIM:606822 ; xref: UNIPROTKB/SWISSPROT:Q8WZA1 ; xref: ENSEMBL:ENSG00000085998] Santavuori disease Muscle-Eye-Brain syndrome Gene [OrphaNum:121835 ; Name:Fukutin related protein ; Symbol:FKRP ; xref: GENATLAS:FKRP ; xref: HGNC:17997 ; xref: OMIM:606596 ; xref: UNIPROTKB/SWISSPROT:Q9H9S5 ; xref: ENSEMBL:ENSG00000181027] Gene [OrphaNum:122992 ; Name:Like-glycosyltransferase ; Symbol:LARGE ; xref: GENATLAS:LARGE ; xref: HGNC:6511 ; xref: OMIM:603590 ; xref: UNIPROTKB/SWISSPROT:O95461 ; xref: ENSEMBL:ENSG00000133424] OMIM:253280 OMIM:613154 OMIM:613153 OMIM:613150 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 Orphanet ID- 8726 ICD10:G71.2 MEB syndrome EXACT Santavuori disease EXACT Muscle-Eye-Brain syndrome EXACT MEB syndrome Distal myopathy, Welander type Distal myopathy, Swedish type prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Distal myopathy, Swedish type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603 OMIM:604454 Orphanet ID- 8727 ICD10:G71.0 EXACT Distal myopathy, Swedish type Distal myopathy, Nonaka type Distal myopathy with rimmed vacuoles Hereditary inclusion body myopathy IBM2 Inclusion body myopathy type 2 Nonaka myopathy Quadriceps-sparing myopathy OMIM:600737 ICD10:G71.8 Orphanet ID- 8729 IBM2 Distal myopathy with rimmed vacuoles Nonaka myopathy Inclusion body myopathy type 2 OMIM:605820 Quadriceps-sparing myopathy Gene [OrphaNum:122207 ; Name:Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase ; Symbol:GNE ; xref: GENATLAS:GNE ; xref: HGNC:23657 ; xref: OMIM:603824 ; xref: UNIPROTKB/SWISSPROT:Q9Y223 ; xref: ENSEMBL:ENSG00000159921] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Hereditary inclusion body myopathy EXACT Quadriceps-sparing myopathy EXACT Nonaka myopathy EXACT Hereditary inclusion body myopathy EXACT Inclusion body myopathy type 2 EXACT IBM2 EXACT Distal myopathy with rimmed vacuoles Tibial muscular dystrophy Distal myopathy, Markesbery-Griggs type Distal myopathy, Udd type Tardive tibial muscular dystrophy Distal myopathy, Udd type prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 8730 Gene [OrphaNum:120326 ; Name:Titin ; Symbol:TTN ; xref: GENATLAS:TTN ; xref: HGNC:12403 ; xref: OMIM:188840 ; xref: UNIPROTKB/SWISSPROT:Q8WZ42 ; xref: REACTOME:Q8WZ42 ; xref: ENSEMBL:ENSG00000155657] Tardive tibial muscular dystrophy Distal myopathy, Markesbery-Griggs type Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 ICD10:G71.0 Gene [OrphaNum:123010 ; Name:LIM domain binding 3 ; Symbol:LDB3 ; xref: GENATLAS:LDB3 ; xref: HGNC:15710 ; xref: OMIM:605906 ; xref: UNIPROTKB/SWISSPROT:O75112 ; xref: ENSEMBL:ENSG00000122367] OMIM:600334 EXACT Distal myopathy, Markesbery-Griggs type EXACT Distal myopathy, Udd type EXACT Tardive tibial muscular dystrophy Distal myopathy with vocal cord weakness Orphanet ID- 8731 ICD10:G71.0 OMIM:606070 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 prevalence- 1 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:189131 ; Name:Matrin 3 ; Symbol:MATR3 ; xref: ENSEMBL:ENSG00000015479 ; xref: GENATLAS:MATR3 ; xref: HGNC:6912 ; xref: OMIM:164015 ; xref: UNIPROTKB/SWISSPROT:P43243] Limb-girdle muscular dystrophy Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263 Orphanet ID- 8734 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Corticobasal degeneration ICD10:G31.0 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Unknown; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=278 Orphanet ID- 8735 Continuous spike-wave during slow sleep syndrome CSWSS syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Sporadic; CSWSS syndrome ICD10:F80.3 Orphanet ID- 8736 EXACT CSWSS syndrome Congenital myasthenic syndromes Gene [OrphaNum:121158 ; Name:Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) ; Symbol:DPAGT1 ; xref: GENATLAS:DPAGT1 ; xref: HGNC:2995 ; xref: OMIM:191350 ; xref: UNIPROTKB/SWISSPROT:Q9H3H5 ; xref: ENSEMBL:ENSG00000172269 ; xref: REACTOME:Q9H3H5] OMIM:603034 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 OMIM:254300 Gene [OrphaNum:259368 ; Name:glutamine--fructose-6-phosphate transaminase 1 ; Symbol:GFPT1 ; xref: REACTOME:Q06210 ; xref: ENSEMBL:ENSG00000198380 ; xref: HGNC:4241 ; xref: OMIM:138292 ; xref: GENATLAS:GFPT1 ; xref: UNIPROTKB/SWISSPROT:Q06210] OMIM:608930 OMIM:605809 OMIM:608931 OMIM:254210 ICD10:G70.2 OMIM:601462 OMIM:610542 OMIM:614750 Orphanet ID- 8737 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; OMIM:254190 Familial hyperaldosteronism type 2 FH2 Familial adrenal adenoma Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 Orphanet ID- 8738 OMIM:605635 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:E26.0 Familial adrenal adenoma FH2 EXACT Familial adrenal adenoma EXACT FH2 Pseudohypoaldosteronism type 1 PHA type 1 PHA type 1 Orphanet ID- 8739 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- Sporadic; EXACT PHA type 1 Apparent mineralocorticoid excess 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Ulick syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 ICD10:E26.1 Orphanet ID- 8740 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Any age; Inheritance- Autosomal recessive; Gene [OrphaNum:122502 ; Name:Hydroxysteroid (11-beta) dehydrogenase 2 ; Symbol:HSD11B2 ; xref: GENATLAS:HSD11B2 ; xref: HGNC:5209 ; xref: OMIM:614232 ; xref: UNIPROTKB/SWISSPROT:P80365 ; xref: ENSEMBL:ENSG00000176387] OMIM:218030 EXACT 11-beta-hydroxysteroid dehydrogenase deficiency type 2 EXACT Ulick syndrome Dopamine beta-hydroxylase deficiency Noradrenaline deficiency Norepinephrine deficiency Gene [OrphaNum:121022 ; Name:Dopamine beta-hydroxylase (dopamine beta-monooxygenase) ; Symbol:DBH ; xref: GENATLAS:DBH ; xref: HGNC:2689 ; xref: OMIM:609312 ; xref: UNIPROTKB/SWISSPROT:P09172 ; xref: REACTOME:P09172 ; xref: ENSEMBL:ENSG00000123454] Noradrenaline deficiency OMIM:223360 ICD10:G90.8 Norepinephrine deficiency prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 8743 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 EXACT Norepinephrine deficiency EXACT Noradrenaline deficiency Multiple system atrophy MSA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Sporadic; MSA OMIM:146500 Orphanet ID- 8744 ICD10:G90.3 EXACT MSA Myelofibrosis with myeloid metaplasia Agnogenic myeloid metaplasia Idiopathic myelofibrosis Myelosclerosis with myeloid metaplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=824 Gene [OrphaNum:268325 ; Name:tet oncogene family member 2 ; Symbol:TET2 ; xref: ENSEMBL:ENSG00000168769 ; xref: HGNC:25941 ; xref: OMIM:612839 ; xref: GENATLAS:TET2 ; xref: UNIPROTKB/SWISSPROT:Q6N021] Orphanet ID- 8745 prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-null; Gene [OrphaNum:122727 ; Name:Janus kinase 2 (a protein tyrosine kinase) ; Symbol:JAK2 ; xref: GENATLAS:JAK2 ; xref: HGNC:6192 ; xref: OMIM:147796 ; xref: UNIPROTKB/SWISSPROT:O60674 ; xref: REACTOME:O60674 ; xref: ENSEMBL:ENSG00000096968] ICD10:D47.1 Idiopathic myelofibrosis Agnogenic myeloid metaplasia OMIM:254450 Myelosclerosis with myeloid metaplasia EXACT Myelosclerosis with myeloid metaplasia EXACT Agnogenic myeloid metaplasia EXACT Idiopathic myelofibrosis Mendelian susceptibility to mycobacterial diseases Idiopathic infection caused by BCG or atypical mycobacteria MSMD Mendelian susceptibility to atypical mycobacteria Mendelian susceptibility to mycobacterial infections Gene [OrphaNum:122580 ; Name:Interferon gamma receptor 2 (interferon gamma transducer 1) ; Symbol:IFNGR2 ; xref: GENATLAS:IFNGR2 ; xref: HGNC:5440 ; xref: OMIM:147569 ; xref: UNIPROTKB/SWISSPROT:P38484 ; xref: ENSEMBL:ENSG00000159128 ; xref: REACTOME:P38484] OMIM:613796 Mendelian susceptibility to mycobacterial infections Gene [OrphaNum:122576 ; Name:Interferon gamma receptor 1 ; Symbol:IFNGR1 ; xref: GENATLAS:IFNGR1 ; xref: HGNC:5439 ; xref: OMIM:107470 ; xref: UNIPROTKB/SWISSPROT:P15260 ; xref: ENSEMBL:ENSG00000027697 ; xref: REACTOME:P15260] Orphanet ID- 8746 Gene [OrphaNum:159075 ; Name:Tyrosine kinase 2 ; Symbol:TYK2 ; xref: ENSEMBL:ENSG00000105397 ; xref: REACTOME:P29597 ; xref: GENATLAS:TYK2 ; xref: HGNC:12440 ; xref: OMIM:176941 ; xref: UNIPROTKB/SWISSPROT:P29597] OMIM:300636 OMIM:300645 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=748 ICD10:Z83.1 Gene [OrphaNum:122614 ; Name:Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma ; Symbol:IKBKG ; xref: ENSEMBL:ENSG00000073009 ; xref: REACTOME:Q9Y6K9 ; xref: UNIPROTKB/SWISSPROT:Q9Y6K9 ; xref: GENATLAS:IKBKG ; xref: HGNC:5961 ; xref: OMIM:300248] Gene [OrphaNum:122629 ; Name:Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) ; Symbol:IL12B ; xref: ENSEMBL:ENSG00000113302 ; xref: GENATLAS:IL12B ; xref: HGNC:5970 ; xref: OMIM:161561 ; xref: UNIPROTKB/SWISSPROT:P29460] OMIM:209950 Gene [OrphaNum:119879 ; Name:Signal transducer and activator of transcription 1, 91kDa ; Symbol:STAT1 ; xref: GENATLAS:STAT1 ; xref: HGNC:11362 ; xref: OMIM:600555 ; xref: UNIPROTKB/SWISSPROT:P42224 ; xref: ENSEMBL:ENSG00000115415 ; xref: REACTOME:P42224] prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; Gene [OrphaNum:122634 ; Name:Interleukin 12 receptor, beta 1 ; Symbol:IL12RB1 ; xref: GENATLAS:IL12RB1 ; xref: HGNC:5971 ; xref: OMIM:601604 ; xref: UNIPROTKB/SWISSPROT:P42701 ; xref: ENSEMBL:ENSG00000096996] ICD10:A31.9 Mendelian susceptibility to atypical mycobacteria Gene [OrphaNum:120935 ; Name:Cytochrome b-245, beta polypeptide (chronic granulomatous disease) ; Symbol:CYBB ; xref: GENATLAS:CYBB ; xref: HGNC:2578 ; xref: OMIM:300481 ; xref: UNIPROTKB/SWISSPROT:P04839 ; xref: REACTOME:P04839 ; xref: ENSEMBL:ENSG00000165168] Idiopathic infection caused by BCG or atypical mycobacteria MSMD EXACT Mendelian susceptibility to mycobacterial infections EXACT Idiopathic infection caused by BCG or atypical mycobacteria EXACT Mendelian susceptibility to atypical mycobacteria EXACT MSMD Cataract-glaucoma Gene [OrphaNum:117844 ; Name:Paired-like homeodomain 3 ; Symbol:PITX3 ; xref: OMIM:602669 ; xref: UNIPROTKB/SWISSPROT:O75364 ; xref: GENATLAS:PITX3 ; xref: HGNC:9006 ; xref: ENSEMBL:ENSG00000107859] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Orphanet ID- 8748 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162 OMIM:602669 ICD10:Q12.0 Arnold-Chiari malformation type II Arnold-Chiari malformation type 2 Chiari malformation type 2 Chiari malformation type II Arnold-Chiari malformation type 2 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Sporadic; OMIM:207950 Orphanet ID- 875 Chiari malformation type II Chiari malformation type 2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1136 ICD10:Q07.0 EXACT Chiari malformation type 2 EXACT Arnold-Chiari malformation type 2 EXACT Chiari malformation type II Idiopathic aplastic anemia Bone marrow failure Gene [OrphaNum:118476 ; Name:Shwachman-Bodian-Diamond syndrome ; Symbol:SBDS ; xref: GENATLAS:SBDS ; xref: HGNC:19440 ; xref: OMIM:607444 ; xref: UNIPROTKB/SWISSPROT:Q9Y3A5 ; xref: ENSEMBL:ENSG00000126524] prevalence- 1-9 / 1 000 000; AgeOfOnset- Adulthood; AgeOfDeath-Adult; Inheritance- Unknown; ICD10:D61.0 Gene [OrphaNum:122574 ; Name:Interferon, gamma ; Symbol:IFNG ; xref: GENATLAS:IFNG ; xref: HGNC:5438 ; xref: OMIM:147570 ; xref: UNIPROTKB/SWISSPROT:P01579 ; xref: REACTOME:P01579 ; xref: ENSEMBL:ENSG00000111537] Bone marrow failure Gene [OrphaNum:117995 ; Name:Perforin 1 (pore forming protein) ; Symbol:PRF1 ; xref: GENATLAS:PRF1 ; xref: HGNC:9360 ; xref: OMIM:170280 ; xref: UNIPROTKB/SWISSPROT:P14222 ; xref: ENSEMBL:ENSG00000180644] Gene [OrphaNum:138451 ; Name:Telomerase reverse transcriptase ; Symbol:TERT ; xref: REACTOME:O14746 ; xref: GENATLAS:TERT ; xref: HGNC:11730 ; xref: OMIM:187270 ; xref: UNIPROTKB/SWISSPROT:O14746 ; xref: ENSEMBL:ENSG00000164362] OMIM:609135 Orphanet ID- 8751 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88 Gene [OrphaNum:138457 ; Name:Telomerase RNA component ; Symbol:TERC ; xref: ENSEMBL:ENSG00000200182 ; xref: GENATLAS:TERC ; xref: HGNC:11727 ; xref: OMIM:602322] EXACT Bone marrow failure Sebastian syndrome Macrothrombocytopenia with leukocyte inclusions Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=807 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Macrothrombocytopenia with leukocyte inclusions Orphanet ID- 8754 OMIM:605249 Gene [OrphaNum:123628 ; Name:Myosin, heavy chain 9, non-muscle ; Symbol:MYH9 ; xref: GENATLAS:MYH9 ; xref: HGNC:7579 ; xref: OMIM:160775 ; xref: UNIPROTKB/SWISSPROT:P35579 ; xref: REACTOME:P35579 ; xref: ENSEMBL:ENSG00000100345] ICD10:D69.4 EXACT Macrothrombocytopenia with leukocyte inclusions Benign occipital epilepsy Orphanet ID- 8755 OMIM:132090 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; X-linked myopathy with excessive autophagy Vacuolar myopathy XMEA Vacuolar myopathy Orphanet ID- 8756 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- X-linked recessive; XMEA Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 OMIM:310440 Gene [OrphaNum:189325 ; Name:VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) ; Symbol:VMA21 ; xref: ENSEMBL:ENSG00000160131 ; xref: HGNC:22082 ; xref: OMIM:310440 ; xref: UNIPROTKB/SWISSPROT:Q3ZAQ7 ; xref: GENATLAS:VMA21] ICD10:G71.8 EXACT XMEA EXACT Vacuolar myopathy Familial gastric cancer Familial stomach cancer prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Gene [OrphaNum:123585 ; Name:MutY homolog (E. coli) ; Symbol:MUTYH ; xref: ENSEMBL:ENSG00000132781 ; xref: GENATLAS:MUTYH ; xref: HGNC:7527 ; xref: OMIM:604933 ; xref: UNIPROTKB/SWISSPROT:Q9UIF7 ; xref: REACTOME:Q9UIF7] Familial stomach cancer Gene [OrphaNum:119276 ; Name:Cadherin 1, type 1, E-cadherin (epithelial) ; Symbol:CDH1 ; xref: GENATLAS:CDH1 ; xref: HGNC:1748 ; xref: OMIM:192090 ; xref: UNIPROTKB/SWISSPROT:P12830 ; xref: REACTOME:P12830 ; xref: ENSEMBL:ENSG00000039068] Orphanet ID- 8758 ICD10:C16 OMIM:137215 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 EXACT Familial stomach cancer Glutaric acidemia type 2 ETFA deficiency ETFB deficiency ETFDH deficiency Electron transfer flavoprotein deficiency Electron transfer flavoprotein ubiquinone oxidoreductase deficiency Glutaric aciduria type 2 MAD deficiency MADD Multiple FAD dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency Gene [OrphaNum:121624 ; Name:Electron-transfer-flavoprotein, beta polypeptide ; Symbol:ETFB ; xref: GENATLAS:ETFB ; xref: HGNC:3482 ; xref: OMIM:130410 ; xref: UNIPROTKB/SWISSPROT:P38117 ; xref: ENSEMBL:ENSG00000105379 ; xref: REACTOME:P38117] MAD deficiency Orphanet ID- 8766 Electron transfer flavoprotein ubiquinone oxidoreductase deficiency Multiple FAD dehydrogenase deficiency ETFB deficiency Glutaric aciduria type 2 ETFDH deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 Gene [OrphaNum:121619 ; Name:Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) ; Symbol:ETFA ; xref: GENATLAS:ETFA ; xref: HGNC:3481 ; xref: OMIM:608053 ; xref: UNIPROTKB/SWISSPROT:P13804 ; xref: REACTOME:P13804 ; xref: ENSEMBL:ENSG00000140374] prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:121626 ; Name:Electron-transferring-flavoprotein dehydrogenase ; Symbol:ETFDH ; xref: GENATLAS:ETFDH ; xref: HGNC:3483 ; xref: OMIM:231675 ; xref: UNIPROTKB/SWISSPROT:Q16134 ; xref: REACTOME:Q16134 ; xref: ENSEMBL:ENSG00000171503] OMIM:231680 ICD10:E71.3 Multiple acyl-CoA dehydrogenase deficiency ETFA deficiency Electron transfer flavoprotein deficiency MADD EXACT ETFB deficiency EXACT ETFDH deficiency EXACT ETFA deficiency EXACT Multiple acyl-CoA dehydrogenase deficiency EXACT MADD EXACT Electron transfer flavoprotein deficiency EXACT MAD deficiency EXACT Glutaric aciduria type 2 EXACT Electron transfer flavoprotein ubiquinone oxidoreductase deficiency EXACT Multiple FAD dehydrogenase deficiency Deficiency of short chain acyl-CoA dehydrogenase SCAD deficiency Short chain Acyl-CoA dehydrogenase deficiency Gene [OrphaNum:117705 ; Name:Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain ; Symbol:ACADS ; xref: GENATLAS:ACADS ; xref: HGNC:90 ; xref: OMIM:606885 ; xref: UNIPROTKB/SWISSPROT:P16219 ; xref: REACTOME:P16219 ; xref: ENSEMBL:ENSG00000122971] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 ICD10:E71.3 SCAD deficiency prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Short chain Acyl-CoA dehydrogenase deficiency OMIM:201470 Orphanet ID- 8767 EXACT Short chain Acyl-CoA dehydrogenase deficiency EXACT SCAD deficiency Very long chain acyl-CoA dehydrogenase deficiency VLCAD deficiency prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:E71.3 VLCAD deficiency Orphanet ID- 8768 Gene [OrphaNum:117713 ; Name:Acyl-Coenzyme A dehydrogenase, very long chain ; Symbol:ACADVL ; xref: GENATLAS:ACADVL ; xref: HGNC:92 ; xref: OMIM:609575 ; xref: UNIPROTKB/SWISSPROT:P49748 ; xref: REACTOME:P49748 ; xref: ENSEMBL:ENSG00000072778] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 OMIM:201475 EXACT VLCAD deficiency Tyrosinemia type 2 Keratosis palmoplantaris - corneal dystrophy Oculocutaneous tyrosinemia Richner-Hanhart syndrome Tyrosinemia due to TAT deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type II Tyrosinemia type II ICD10:E70.2 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; Tyrosinemia due to tyrosine aminotransferase deficiency Keratosis palmoplantaris - corneal dystrophy Tyrosinemia due to TAT deficiency Richner-Hanhart syndrome Gene [OrphaNum:119928 ; Name:Tyrosine aminotransferase ; Symbol:TAT ; xref: GENATLAS:TAT ; xref: HGNC:11573 ; xref: UNIPROTKB/SWISSPROT:P17735 ; xref: OMIM:613018 ; xref: REACTOME:P17735 ; xref: ENSEMBL:ENSG00000198650] Orphanet ID- 8772 Oculocutaneous tyrosinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 OMIM:276600 EXACT Oculocutaneous tyrosinemia EXACT Tyrosinemia due to tyrosine aminotransferase deficiency EXACT Tyrosinemia type II EXACT Richner-Hanhart syndrome EXACT Tyrosinemia due to TAT deficiency EXACT Keratosis palmoplantaris - corneal dystrophy Pancreatic beta cell agenesis with neonatal diabetes mellitus Orphanet ID- 8773 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E10 OMIM:600089 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28455 Hereditary pheochromocytoma-paraganglioma Familial pheochromocytoma-paraganglioma SDHx-related paraganglioma-pheochromocytoma Gene [OrphaNum:118558 ; Name:Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa ; Symbol:SDHC ; xref: GENATLAS:SDHC ; xref: HGNC:10682 ; xref: OMIM:602413 ; xref: UNIPROTKB/SWISSPROT:Q99643 ; xref: ENSEMBL:ENSG00000143252 ; xref: REACTOME:Q99643] OMIM:605373 OMIM:601650 ICD10:C75.5 OMIM:115310 Gene [OrphaNum:118554 ; Name:Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) ; Symbol:SDHB ; xref: GENATLAS:SDHB ; xref: HGNC:10681 ; xref: OMIM:185470 ; xref: UNIPROTKB/SWISSPROT:P21912 ; xref: ENSEMBL:ENSG00000117118 ; xref: REACTOME:P21912] ICD10:C74.1 Gene [OrphaNum:290420 ; Name:MYC associated factor X ; Symbol:MAX ; xref: HGNC:6913 ; xref: OMIM:154950 ; xref: GENATLAS:MAX ; xref: UNIPROTKB/SWISSPROT:P61244 ; xref: ENSEMBL:ENSG00000125952 ; xref: REACTOME:P61244] Gene [OrphaNum:227079 ; Name:Transmembrane protein 127 ; Symbol:TMEM127 ; xref: HGNC:26038 ; xref: UNIPROTKB/SWISSPROT:O75204 ; xref: ENSEMBL:ENSG00000135956 ; xref: GENATLAS:TMEM127 ; xref: OMIM:613403] Gene [OrphaNum:118549 ; Name:Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) ; Symbol:SDHA ; xref: OMIM:600857 ; xref: UNIPROTKB/SWISSPROT:P31040 ; xref: GENATLAS:SDHA ; xref: HGNC:10680 ; xref: ENSEMBL:ENSG00000073578 ; xref: REACTOME:P31040] OMIM:171300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072 Familial pheochromocytoma-paraganglioma prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; OMIM:168000 OMIM:614165 Orphanet ID- 8775 Gene [OrphaNum:118561 ; Name:Succinate dehydrogenase complex, subunit D, integral membrane protein ; Symbol:SDHD ; xref: GENATLAS:SDHD ; xref: HGNC:10683 ; xref: OMIM:602690 ; xref: UNIPROTKB/SWISSPROT:O14521 ; xref: ENSEMBL:ENSG00000204370 ; xref: REACTOME:O14521] SDHx-related paraganglioma-pheochromocytoma ICD10:D35.6 ICD10:D35.0 Gene [OrphaNum:209279 ; Name:Succinate dehydrogenase complex assembly factor 2 ; Symbol:SDHAF2 ; xref: OMIM:613019 ; xref: UNIPROTKB/SWISSPROT:Q9NX18 ; xref: ENSEMBL:ENSG00000167985 ; xref: HGNC:26034 ; xref: GENATLAS:SDHAF2] EXACT SDHx-related paraganglioma-pheochromocytoma EXACT Familial pheochromocytoma-paraganglioma Familial symmetric lipomatosis Central non-encapsulated lipomatosis Familial benign cervical lipomatosis Launois-Bensaude adenolipomatosis Madelung's disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398 Madelung's disease Familial benign cervical lipomatosis OMIM:151800 prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-Any age; Inheritance- Autosomal dominant; Orphanet ID- 878 Launois-Bensaude adenolipomatosis Central non-encapsulated lipomatosis ICD10:E88.8 EXACT Madelung's disease EXACT Familial benign cervical lipomatosis EXACT Launois-Bensaude adenolipomatosis EXACT Central non-encapsulated lipomatosis Biliary atresia true ICD10:Q44.2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 Orphanet ID- 8781 OMIM:210500 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Pyridoxine-dependent epilepsy Glutamate decarboxylase deficiency Pyridoxine-responsive seizures Vitamin B6-responsive seizures OMIM:266100 Gene [OrphaNum:119596 ; Name:Aldehyde dehydrogenase 7 family, member A1 ; Symbol:ALDH7A1 ; xref: GENATLAS:ALDH7A1 ; xref: HGNC:877 ; xref: OMIM:107323 ; xref: UNIPROTKB/SWISSPROT:P49419 ; xref: REACTOME:P49419 ; xref: ENSEMBL:ENSG00000164904] prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Unknown; Vitamin B6-responsive seizures Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 Orphanet ID- 880 ICD10:G40.8 Glutamate decarboxylase deficiency Pyridoxine-responsive seizures EXACT Vitamin B6-responsive seizures EXACT Pyridoxine-responsive seizures EXACT Glutamate decarboxylase deficiency Rotor syndrome Hyperbilirubinemia, Rotor type ICD10:E80.6 Gene [OrphaNum:292437 ; Name:Solute carrier organic anion transporter family, member 1B3 ; Symbol:SLCO1B3 ; xref: GENATLAS:SLCO1B3 ; xref: HGNC:10961 ; xref: OMIM:605495 ; xref: UNIPROTKB/SWISSPROT:Q9NPD5] OMIM:237450 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:241999 ; Name:Solute carrier organic anion transporter family, member 1B1 ; Symbol:SLCO1B1 ; xref: GENATLAS:SLCO1B1 ; xref: HGNC:10959 ; xref: UNIPROTKB/SWISSPROT:Q9Y6L6 ; xref: OMIM:604843 ; xref: REACTOME:Q9Y6L6 ; xref: ENSEMBL:ENSG00000134538] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 Hyperbilirubinemia, Rotor type Orphanet ID- 882 EXACT Hyperbilirubinemia, Rotor type Lennox-Gastaut syndrome OMIM:606369 prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Sporadic; ICD10:G40.4 Gene [OrphaNum:248276 ; Name:Mitogen-activated protein kinase 10 ; Symbol:MAPK10 ; xref: REACTOME:P53779 ; xref: ENSEMBL:ENSG00000109339 ; xref: GENATLAS:MAPK10 ; xref: HGNC:6872 ; xref: OMIM:602897 ; xref: UNIPROTKB/SWISSPROT:P53779] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 Orphanet ID- 885 Tay-Sachs disease GM2-gangliosidosis, B, B1, AB variant Hexosaminidase A deficiency Hexosaminidase A deficiency OMIM:272800 Orphanet ID- 888 Gene [OrphaNum:122402 ; Name:Hexosaminidase A (alpha polypeptide) ; Symbol:HEXA ; xref: GENATLAS:HEXA ; xref: HGNC:4878 ; xref: OMIM:606869 ; xref: UNIPROTKB/SWISSPROT:P06865 ; xref: ENSEMBL:ENSG00000213614 ; xref: REACTOME:P06865] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 GM2-gangliosidosis, B, B1, AB variant OMIM:272750 ICD10:E75.0 Gene [OrphaNum:122192 ; Name:GM2 ganglioside activator ; Symbol:GM2A ; xref: ENSEMBL:ENSG00000196743 ; xref: GENATLAS:GM2A ; xref: HGNC:4367 ; xref: UNIPROTKB/SWISSPROT:P17900 ; xref: OMIM:613109 ; xref: REACTOME:P17900] prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT GM2-gangliosidosis, B, B1, AB variant EXACT Hexosaminidase A deficiency Early infantile epileptic encephalopathy EIEE Early infantile epileptic encephalopathy with suppression-bursts Ohtahara syndrome EIEE Gene [OrphaNum:258534 ; Name:phospholipase C, beta 1 ; Symbol:PLCB1 ; xref: ENSEMBL:ENSG00000182621 ; xref: REACTOME:Q9NQ66 ; xref: HGNC:15917 ; xref: OMIM:607120 ; xref: GENATLAS:PLCB1 ; xref: UNIPROTKB/SWISSPROT:Q9NQ66] Gene [OrphaNum:118803 ; Name:Solute carrier family 25 (mitochondrial carrier: glutamate), member 22 ; Symbol:SLC25A22 ; xref: GENATLAS:SLC25A22 ; xref: HGNC:19954 ; xref: OMIM:609302 ; xref: UNIPROTKB/SWISSPROT:Q9H936 ; xref: ENSEMBL:ENSG00000177542] Ohtahara syndrome Gene [OrphaNum:118500 ; Name:Sodium channel, voltage-gated, type II, alpha subunit ; Symbol:SCN2A ; xref: GENATLAS:SCN2A ; xref: HGNC:10588 ; xref: OMIM:182390 ; xref: UNIPROTKB/SWISSPROT:Q99250 ; xref: REACTOME:Q99250 ; xref: ENSEMBL:ENSG00000136531 ; xref: IUPHAR:579] Early infantile epileptic encephalopathy with suppression-bursts ICD10:G40.3 OMIM:612164 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 Gene [OrphaNum:235187 ; Name:Spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) ; Symbol:SPTAN1 ; xref: REACTOME:Q13813 ; xref: ENSEMBL:ENSG00000197694 ; xref: HGNC:11273 ; xref: GENATLAS:SPTAN1 ; xref: OMIM:182810 ; xref: UNIPROTKB/SWISSPROT:Q13813] OMIM:613477 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Sporadic; Gene [OrphaNum:122808 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 2 ; Symbol:KCNQ2 ; xref: GENATLAS:KCNQ2 ; xref: HGNC:6296 ; xref: OMIM:602235 ; xref: UNIPROTKB/SWISSPROT:O43526 ; xref: IUPHAR:561 ; xref: ENSEMBL:ENSG00000075043 ; xref: REACTOME:O43526] OMIM:614558 Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848] OMIM:613722 Orphanet ID- 889 OMIM:613721 OMIM:613720 Gene [OrphaNum:293928 ; Name:Sodium channel, voltage gated, type VIII, alpha subunit ; Symbol:SCN8A ; xref: GENATLAS:SCN8A ; xref: UNIPROTKB/SWISSPROT:Q9UQD0 ; xref: HGNC:10596 ; xref: OMIM:600702] Gene [OrphaNum:166683 ; Name:Syntaxin binding protein 1 ; Symbol:STXBP1 ; xref: GENATLAS:STXBP1 ; xref: HGNC:11444 ; xref: OMIM:602926 ; xref: UNIPROTKB/SWISSPROT:P61764 ; xref: ENSEMBL:ENSG00000136854 ; xref: REACTOME:P61764] EXACT Early infantile epileptic encephalopathy with suppression-bursts EXACT Ohtahara syndrome EXACT EIEE Early myoclonic encephalopathy Early myoclonic encephalopathy with suppression-bursts Gene [OrphaNum:118803 ; Name:Solute carrier family 25 (mitochondrial carrier: glutamate), member 22 ; Symbol:SLC25A22 ; xref: GENATLAS:SLC25A22 ; xref: HGNC:19954 ; xref: OMIM:609302 ; xref: UNIPROTKB/SWISSPROT:Q9H936 ; xref: ENSEMBL:ENSG00000177542] prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Before age 5; Inheritance- Autosomal recessive; ICD10:G40.3 Early myoclonic encephalopathy with suppression-bursts Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1935 Orphanet ID- 890 OMIM:609304 EXACT Early myoclonic encephalopathy with suppression-bursts Epilepsy with myoclonic-astatic seizures Doose syndrome MAE Myoclonic-astatic epilepsy in early childhood Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Unknown; Doose syndrome Myoclonic-astatic epilepsy in early childhood Gene [OrphaNum:158410 ; Name:Solute carrier family 2 (facilitated glucose transporter), member 1 ; Symbol:SLC2A1 ; xref: UNIPROTKB/SWISSPROT:P11166 ; xref: REACTOME:P11166 ; xref: GENATLAS:SLC2A1 ; xref: HGNC:11005 ; xref: OMIM:138140 ; xref: ENSEMBL:ENSG00000117394] MAE Orphanet ID- 891 ICD10:G40.4 EXACT MAE EXACT Doose syndrome EXACT Myoclonic-astatic epilepsy in early childhood Infant epilepsy with migrant focal crisis prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Unknown; Orphanet ID- 892 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943 ICD10:G40.4 West syndrome Infantile spasms Intellectual deficit - hypsarrhythmia prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Intellectual deficit - hypsarrhythmia Gene [OrphaNum:286610 ; Name:Membrane associated guanylate kinase, WW and PDZ domain containing 2 ; Symbol:MAGI2 ; xref: UNIPROTKB/SWISSPROT:Q86UL8 ; xref: GENATLAS:MAGI2 ; xref: HGNC:18957 ; xref: OMIM:606382 ; xref: REACTOME:Q86UL8 ; xref: ENSEMBL:ENSG00000187391] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3451 Infantile spasms Gene [OrphaNum:119297 ; Name:Cyclin-dependent kinase-like 5 ; Symbol:CDKL5 ; xref: HGNC:11411 ; xref: OMIM:300203 ; xref: UNIPROTKB/SWISSPROT:O76039 ; xref: GENATLAS:CDKL5 ; xref: ENSEMBL:ENSG00000008086] ICD10:G40.4 Gene [OrphaNum:121437 ; Name:Aristaless related homeobox ; Symbol:ARX ; xref: GENATLAS:ARX ; xref: HGNC:18060 ; xref: OMIM:300382 ; xref: UNIPROTKB/SWISSPROT:Q96QS3 ; xref: ENSEMBL:ENSG00000004848] Orphanet ID- 894 OMIM:308350 EXACT Infantile spasms EXACT Intellectual deficit - hypsarrhythmia Ring chromosome 22 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446 Orphanet ID- 896 ICD10:Q93.2 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Angelman syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Sporadic; Gene [OrphaNum:120365 ; Name:Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) ; Symbol:UBE3A ; xref: ENSEMBL:ENSG00000114062 ; xref: REACTOME:Q05086 ; xref: GENATLAS:UBE3A ; xref: HGNC:12496 ; xref: OMIM:601623 ; xref: UNIPROTKB/SWISSPROT:Q05086] ICD10:Q93.5 Orphanet ID- 90 Gene [OrphaNum:121487 ; Name:ATPase, Class V, type 10A ; Symbol:ATP10A ; xref: GENATLAS:ATP10A ; xref: HGNC:13542 ; xref: OMIM:605855 ; xref: UNIPROTKB/SWISSPROT:O60312 ; xref: ENSEMBL:ENSG00000206190] OMIM:105830 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 Gene [OrphaNum:159128 ; Name:Cytoplasmic FMR1 interacting protein 1 ; Symbol:CYFIP1 ; xref: GENATLAS:CYFIP1 ; xref: HGNC:13759 ; xref: OMIM:606322 ; xref: UNIPROTKB/SWISSPROT:Q7L576 ; xref: ENSEMBL:ENSG00000068793] Alpha thalassemia - X-linked intellectual deficit ATR-X syndrome Alpha thalassemia - retardation syndrome, X-linked Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; ICD10:D56.0 Orphanet ID- 900 Gene [OrphaNum:118908 ; Name:Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) ; Symbol:ATRX ; xref: GENATLAS:ATRX ; xref: HGNC:886 ; xref: OMIM:300032 ; xref: UNIPROTKB/SWISSPROT:P46100 ; xref: ENSEMBL:ENSG00000085224] OMIM:301040 ATR-X syndrome Alpha thalassemia - retardation syndrome, X-linked EXACT Alpha thalassemia - retardation syndrome, X-linked EXACT ATR-X syndrome Carnitine palmitoyl transferase II deficiency CPT2 CPTII Carnitine palmitoyltransferase deficiency type 2 Carnitine palmitoyltransferase deficiency type 2 Orphanet ID- 901 OMIM:600649 CPT2 OMIM:608836 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 ICD10:E71.3 CPTII OMIM:255110 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; EXACT CPT2 EXACT CPTII EXACT Carnitine palmitoyltransferase deficiency type 2 Familial prostate cancer Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 Gene [OrphaNum:158588 ; Name:HNF1 homeobox B ; Symbol:HNF1B ; xref: ENSEMBL:ENSG00000108753 ; xref: REACTOME:P35680 ; xref: GENATLAS:HNF1B ; xref: HGNC:11630 ; xref: OMIM:189907 ; xref: UNIPROTKB/SWISSPROT:P35680] Gene [OrphaNum:119860 ; Name:Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) ; Symbol:SRD5A2 ; xref: GENATLAS:SRD5A2 ; xref: HGNC:11285 ; xref: OMIM:607306 ; xref: UNIPROTKB/SWISSPROT:P31213 ; xref: REACTOME:P31213 ; xref: ENSEMBL:ENSG00000049319] Gene [OrphaNum:119072 ; Name:Breast cancer 2, early onset ; Symbol:BRCA2 ; xref: GENATLAS:BRCA2 ; xref: HGNC:1101 ; xref: OMIM:600185 ; xref: UNIPROTKB/SWISSPROT:P51587 ; xref: REACTOME:P51587 ; xref: ENSEMBL:ENSG00000139618] OMIM:610997 Gene [OrphaNum:122511 ; Name:Hydroxysteroid (17-beta) dehydrogenase 3 ; Symbol:HSD17B3 ; xref: GENATLAS:HSD17B3 ; xref: HGNC:5212 ; xref: OMIM:605573 ; xref: UNIPROTKB/SWISSPROT:P37058 ; xref: ENSEMBL:ENSG00000130948 ; xref: REACTOME:P37058] OMIM:300704 Gene [OrphaNum:233066 ; Name:Microseminoprotein, beta- ; Symbol:MSMB ; xref: ENSEMBL:ENSG00000138294 ; xref: GENATLAS:MSMB ; xref: HGNC:7372 ; xref: UNIPROTKB/SWISSPROT:P08118 ; xref: OMIM:157145] Gene [OrphaNum:119394 ; Name:CHK2 checkpoint homolog (S. pombe) ; Symbol:CHEK2 ; xref: OMIM:604373 ; xref: UNIPROTKB/SWISSPROT:O96017 ; xref: GENATLAS:CHEK2 ; xref: HGNC:16627 ; xref: REACTOME:O96017 ; xref: ENSEMBL:ENSG00000183765] OMIM:602759 OMIM:611868 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; OMIM:603688 OMIM:609299 Gene [OrphaNum:121567 ; Name:EPH receptor B2 ; Symbol:EPHB2 ; xref: GENATLAS:EPHB2 ; xref: HGNC:3393 ; xref: OMIM:600997 ; xref: UNIPROTKB/SWISSPROT:P29323 ; xref: REACTOME:P29323 ; xref: ENSEMBL:ENSG00000133216] OMIM:611100 OMIM:300147 OMIM:608658 OMIM:608656 Gene [OrphaNum:121513 ; Name:ElaC homolog 2 (E. coli) ; Symbol:ELAC2 ; xref: GENATLAS:ELAC2 ; xref: HGNC:14198 ; xref: OMIM:605367 ; xref: UNIPROTKB/SWISSPROT:Q9BQ52 ; xref: ENSEMBL:ENSG00000006744] OMIM:609558 Gene [OrphaNum:118344 ; Name:Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) ; Symbol:RNASEL ; xref: GENATLAS:RNASEL ; xref: HGNC:10050 ; xref: OMIM:180435 ; xref: UNIPROTKB/SWISSPROT:Q05823 ; xref: REACTOME:Q05823 ; xref: ENSEMBL:ENSG00000135828] Gene [OrphaNum:122515 ; Name:Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ; Symbol:HSD3B2 ; xref: GENATLAS:HSD3B2 ; xref: HGNC:5218 ; xref: UNIPROTKB/SWISSPROT:P26439 ; xref: OMIM:613890 ; xref: REACTOME:P26439 ; xref: ENSEMBL:ENSG00000203859] Gene [OrphaNum:119068 ; Name:Breast cancer 1, early onset ; Symbol:BRCA1 ; xref: GENATLAS:BRCA1 ; xref: HGNC:1100 ; xref: OMIM:113705 ; xref: UNIPROTKB/SWISSPROT:P38398 ; xref: REACTOME:P38398 ; xref: ENSEMBL:ENSG00000012048] Gene [OrphaNum:123590 ; Name:MAX interactor 1 ; Symbol:MXI1 ; xref: GENATLAS:MXI1 ; xref: HGNC:7534 ; xref: OMIM:600020 ; xref: UNIPROTKB/SWISSPROT:P50539 ; xref: ENSEMBL:ENSG00000119950] OMIM:610321 OMIM:611928 OMIM:601518 OMIM:614731 OMIM:611959 OMIM:611958 Gene [OrphaNum:292052 ; Name:Homeobox B13 ; Symbol:HOXB13 ; xref: HGNC:5112 ; xref: OMIM:604607 ; xref: GENATLAS:HOXB13 ; xref: ENSEMBL:ENSG00000159184 ; xref: UNIPROTKB/SWISSPROT:Q92826] OMIM:611955 ICD10:C61 Orphanet ID- 903 OMIM:176807 Multiple endocrine neoplasia type 2 MEN2 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 OMIM:171400 Orphanet ID- 906 prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal dominant; MEN2 OMIM:162300 ICD10:D44.8 EXACT MEN2 Familial renal cell carcinoma Orphanet ID- 907 ICD10:C64 Gene [OrphaNum:121084 ; Name:Disrupted in renal carcinoma 1 ; Symbol:DIRC1 ; xref: GENATLAS:DIRC1 ; xref: HGNC:15760 ; xref: OMIM:606423 ; xref: UNIPROTKB/SWISSPROT:Q969H9 ; xref: ENSEMBL:ENSG00000174325] Gene [OrphaNum:121826 ; Name:Fragile histidine triad gene ; Symbol:FHIT ; xref: GENATLAS:FHIT ; xref: HGNC:3701 ; xref: OMIM:601153 ; xref: UNIPROTKB/SWISSPROT:P49789 ; xref: ENSEMBL:ENSG00000189283] Gene [OrphaNum:121086 ; Name:Disrupted in renal carcinoma 2 ; Symbol:DIRC2 ; xref: GENATLAS:DIRC2 ; xref: HGNC:16628 ; xref: OMIM:602773 ; xref: UNIPROTKB/SWISSPROT:Q96SL1 ; xref: ENSEMBL:ENSG00000138463] prevalence- 1-9 / 100 000; AgeOfOnset- Variable; AgeOfDeath-null; Gene [OrphaNum:123989 ; Name:8-oxoguanine DNA glycosylase ; Symbol:OGG1 ; xref: GENATLAS:OGG1 ; xref: HGNC:8125 ; xref: OMIM:601982 ; xref: UNIPROTKB/SWISSPROT:O15527 ; xref: REACTOME:O15527 ; xref: ENSEMBL:ENSG00000114026] Gene [OrphaNum:118347 ; Name:Ring finger protein 139 ; Symbol:RNF139 ; xref: OMIM:603046 ; xref: UNIPROTKB/SWISSPROT:Q8WU17 ; xref: GENATLAS:RNF139 ; xref: HGNC:17023 ; xref: ENSEMBL:ENSG00000170881] Gene [OrphaNum:122538 ; Name:HSPB (heat shock 27kDa) associated protein 1 ; Symbol:HSPBAP1 ; xref: ENSEMBL:ENSG00000169087 ; xref: GENATLAS:HSPBAP1 ; xref: HGNC:16389 ; xref: OMIM:608263 ; xref: UNIPROTKB/SWISSPROT:Q96EW2] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=151 OMIM:144700 Rett syndrome prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Adult; Inheritance- X-linked dominant; OMIM:312750 Gene [OrphaNum:123186 ; Name:Methyl CpG binding protein 2 (Rett syndrome) ; Symbol:MECP2 ; xref: GENATLAS:MECP2 ; xref: HGNC:6990 ; xref: OMIM:300005 ; xref: UNIPROTKB/SWISSPROT:P51608 ; xref: ENSEMBL:ENSG00000169057] ICD10:F84.2 Orphanet ID- 91 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 Monosomy 21 21q deletion 21q- syndrome Partial 21q monosomy ICD10:Q93.0 21q- syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574 Partial 21q monosomy prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; 21q deletion Orphanet ID- 910 EXACT 21q deletion EXACT Partial 21q monosomy EXACT 21q- syndrome Simpson-Golabi-Behmel syndrome DGSX Golabi-Rosen syndrome SDYS SGBS SGBS1 Simpson dysmorphia syndrome Simpson-Golabi-Behmel syndrome type 1 X-linked dysplasia gigantism syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Simpson-Golabi-Behmel syndrome type 1 Golabi-Rosen syndrome Simpson dysmorphia syndrome Gene [OrphaNum:167870 ; Name:Glypican 4 ; Symbol:GPC4 ; xref: GENATLAS:GPC4 ; xref: HGNC:4452 ; xref: OMIM:300168 ; xref: UNIPROTKB/SWISSPROT:O75487 ; xref: ENSEMBL:ENSG00000076716] SGBS OMIM:312870 ICD10:Q87.8 SGBS1 DGSX X-linked dysplasia gigantism syndrome SDYS Gene [OrphaNum:122248 ; Name:Glypican 3 ; Symbol:GPC3 ; xref: GENATLAS:GPC3 ; xref: HGNC:4451 ; xref: OMIM:300037 ; xref: UNIPROTKB/SWISSPROT:P51654 ; xref: ENSEMBL:ENSG00000147257] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 Orphanet ID- 912 EXACT SGBS1 EXACT DGSX EXACT Golabi-Rosen syndrome EXACT SGBS EXACT SDYS EXACT Simpson-Golabi-Behmel syndrome type 1 EXACT Simpson dysmorphia syndrome EXACT X-linked dysplasia gigantism syndrome Familial hyperaldosteronism type 1 Dexamethasone sensitive hypertension FH1 GRA Glucocorticoid sensitive hypertension Glucocorticoid-remediable aldosteronism GRA Glucocorticoid sensitive hypertension Orphanet ID- 913 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 Glucocorticoid-remediable aldosteronism ICD10:E26.0 Gene [OrphaNum:120955 ; Name:Cytochrome P450, family 11, subfamily B, polypeptide 2 ; Symbol:CYP11B2 ; xref: GENATLAS:CYP11B2 ; xref: HGNC:2592 ; xref: OMIM:124080 ; xref: UNIPROTKB/SWISSPROT:P19099 ; xref: REACTOME:P19099 ; xref: ENSEMBL:ENSG00000179142] OMIM:103900 Gene [OrphaNum:120949 ; Name:Cytochrome P450, family 11, subfamily B, polypeptide 1 ; Symbol:CYP11B1 ; xref: OMIM:610613 ; xref: UNIPROTKB/SWISSPROT:P15538 ; xref: GENATLAS:CYP11B1 ; xref: HGNC:2591 ; xref: ENSEMBL:ENSG00000160882 ; xref: REACTOME:P15538] FH1 Dexamethasone sensitive hypertension prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; EXACT Glucocorticoid-remediable aldosteronism EXACT Glucocorticoid sensitive hypertension EXACT GRA EXACT FH1 EXACT Dexamethasone sensitive hypertension Thiopurine S-methyltransferase deficiency prevalence- null; AgeOfOnset- null; AgeOfDeath-null; ICD10:E79.8 Gene [OrphaNum:120231 ; Name:Thiopurine S-methyltransferase ; Symbol:TPMT ; xref: GENATLAS:TPMT ; xref: HGNC:12014 ; xref: OMIM:187680 ; xref: UNIPROTKB/SWISSPROT:P51580 ; xref: REACTOME:P51580 ; xref: ENSEMBL:ENSG00000137364] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3315 OMIM:610460 Orphanet ID- 915 Congenital factor VII deficiency Congenital proconvertin deficiency Hypoproconvertinemia Orphanet ID- 916 Congenital proconvertin deficiency Hypoproconvertinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:D68.2 OMIM:227500 Gene [OrphaNum:121675 ; Name:Coagulation factor VII (serum prothrombin conversion accelerator) ; Symbol:F7 ; xref: GENATLAS:F7 ; xref: HGNC:3544 ; xref: UNIPROTKB/SWISSPROT:P08709 ; xref: OMIM:613878 ; xref: ENSEMBL:ENSG00000057593 ; xref: REACTOME:P08709] EXACT Hypoproconvertinemia EXACT Congenital proconvertin deficiency Androgen insensitivity syndrome AIS Androgen resistance syndrome Goldberg-Maxwell syndrome Morris syndrome Testicular feminization syndrome Testicular feminization syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 AIS Orphanet ID- 918 ICD10:E34.5 Androgen resistance syndrome Goldberg-Maxwell syndrome prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Morris syndrome EXACT Goldberg-Maxwell syndrome EXACT Morris syndrome EXACT AIS EXACT Androgen resistance syndrome EXACT Testicular feminization syndrome Spondyloepiphyseal dysplasia Orphanet ID- 919 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Familial mediterranean fever Benign paroxysmal peritonitis Benign recurrent polyserositis FMF Familial paroxysmal polyserositis Periodic disease ICD10:E85.0 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 OMIM:249100 FMF Orphanet ID- 920 Benign paroxysmal peritonitis Benign recurrent polyserositis prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:123191 ; Name:Mediterranean fever ; Symbol:MEFV ; xref: GENATLAS:MEFV ; xref: HGNC:6998 ; xref: OMIM:608107 ; xref: UNIPROTKB/SWISSPROT:O15553 ; xref: REACTOME:O15553 ; xref: ENSEMBL:ENSG00000103313] Familial paroxysmal polyserositis OMIM:134610 Periodic disease EXACT Familial paroxysmal polyserositis EXACT Periodic disease EXACT FMF EXACT Benign paroxysmal peritonitis EXACT Benign recurrent polyserositis Choroideremia CHM Tapetochoroidal dystrophy prevalence- 1-9 / 100 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-Normal; Inheritance- X-linked recessive; CHM Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180 Gene [OrphaNum:118376 ; Name:Retinal pigment epithelium-specific protein 65kDa ; Symbol:RPE65 ; xref: GENATLAS:RPE65 ; xref: HGNC:10294 ; xref: OMIM:180069 ; xref: UNIPROTKB/SWISSPROT:Q16518 ; xref: ENSEMBL:ENSG00000116745] OMIM:303100 ICD10:H31.2 Gene [OrphaNum:119402 ; Name:Choroideremia (Rab escort protein 1) ; Symbol:CHM ; xref: GENATLAS:CHM ; xref: HGNC:1940 ; xref: OMIM:300390 ; xref: UNIPROTKB/SWISSPROT:P24386 ; xref: ENSEMBL:ENSG00000188419] Tapetochoroidal dystrophy Orphanet ID- 921 EXACT Tapetochoroidal dystrophy EXACT CHM Congenital stationary night blindness Congenital essential nyctalopia OMIM:610427 Gene [OrphaNum:123966 ; Name:Nyctalopin ; Symbol:NYX ; xref: GENATLAS:NYX ; xref: HGNC:8082 ; xref: OMIM:300278 ; xref: UNIPROTKB/SWISSPROT:Q9GZU5 ; xref: ENSEMBL:ENSG00000188937] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215 Gene [OrphaNum:122291 ; Name:Glutamate receptor, metabotropic 6 ; Symbol:GRM6 ; xref: GENATLAS:GRM6 ; xref: HGNC:4598 ; xref: OMIM:604096 ; xref: UNIPROTKB/SWISSPROT:O15303 ; xref: REACTOME:O15303 ; xref: IUPHAR:294 ; xref: ENSEMBL:ENSG00000113262] prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked recessive; OMIM:163500 Gene [OrphaNum:119148 ; Name:Calcium channel, voltage-dependent, L type, alpha 1F subunit ; Symbol:CACNA1F ; xref: GENATLAS:CACNA1F ; xref: HGNC:1393 ; xref: OMIM:300110 ; xref: UNIPROTKB/SWISSPROT:O60840 ; xref: IUPHAR:531 ; xref: ENSEMBL:ENSG00000102001 ; xref: REACTOME:O60840] Gene [OrphaNum:124149 ; Name:Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) ; Symbol:PDE6B ; xref: GENATLAS:PDE6B ; xref: HGNC:8786 ; xref: OMIM:180072 ; xref: UNIPROTKB/SWISSPROT:P35913 ; xref: ENSEMBL:ENSG00000133256 ; xref: REACTOME:P35913] OMIM:300071 Gene [OrphaNum:122202 ; Name:Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 ; Symbol:GNAT1 ; xref: GENATLAS:GNAT1 ; xref: HGNC:4393 ; xref: OMIM:139330 ; xref: UNIPROTKB/SWISSPROT:P11488 ; xref: ENSEMBL:ENSG00000114349 ; xref: REACTOME:P11488] Gene [OrphaNum:119127 ; Name:Calcium binding protein 4 ; Symbol:CABP4 ; xref: GENATLAS:CABP4 ; xref: HGNC:1386 ; xref: OMIM:608965 ; xref: UNIPROTKB/SWISSPROT:P57796 ; xref: ENSEMBL:ENSG00000175544] Congenital essential nyctalopia Gene [OrphaNum:244378 ; Name:Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ; Symbol:SLC24A1 ; xref: GENATLAS:SLC24A1 ; xref: HGNC:10975 ; xref: OMIM:603617 ; xref: UNIPROTKB/SWISSPROT:O60721 ; xref: ENSEMBL:ENSG00000074621 ; xref: REACTOME:O60721] OMIM:310500 Gene [OrphaNum:292381 ; Name:G protein-coupled receptor 179 ; Symbol:GPR179 ; xref: GENATLAS:GPR179 ; xref: UNIPROTKB/SWISSPROT:Q6PRD1 ; xref: OMIM:614515 ; xref: HGNC:31371] Gene [OrphaNum:225280 ; Name:Transient receptor potential cation channel, subfamily M, member 1 ; Symbol:TRPM1 ; xref: IUPHAR:493 ; xref: ENSEMBL:ENSG00000134160 ; xref: GENATLAS:TRPM1 ; xref: HGNC:7146 ; xref: OMIM:603576 ; xref: UNIPROTKB/SWISSPROT:Q7Z4N2] OMIM:257270 Orphanet ID- 923 Gene [OrphaNum:121117 ; Name:Dystrophin (muscular dystrophy, Duchenne and Becker types) ; Symbol:DMD ; xref: GENATLAS:DMD ; xref: HGNC:2928 ; xref: OMIM:300377 ; xref: UNIPROTKB/SWISSPROT:P11532 ; xref: ENSEMBL:ENSG00000198947 ; xref: REACTOME:P11532] OMIM:614565 ICD10:H53.6 OMIM:613216 OMIM:610444 Gene [OrphaNum:118315 ; Name:Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) ; Symbol:RHO ; xref: GENATLAS:RHO ; xref: HGNC:10012 ; xref: OMIM:180380 ; xref: UNIPROTKB/SWISSPROT:P08100 ; xref: REACTOME:P08100 ; xref: ENSEMBL:ENSG00000163914] OMIM:610445 OMIM:613830 EXACT Congenital essential nyctalopia LCAT deficiency Lecithin-cholesterol acyltransferase deficiency Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 ICD10:E78.6 prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal recessive; Inheritance- Sporadic; Orphanet ID- 924 Lecithin-cholesterol acyltransferase deficiency EXACT Lecithin-cholesterol acyltransferase deficiency Familial hypoaldosteronism OMIM:203400 ICD10:E27.4 Orphanet ID- 925 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; OMIM:606984 OMIM:610600 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427 Congenital factor V deficiency Owren's disease Parahemophilia Proaccelerin deficiency Gene [OrphaNum:121673 ; Name:Coagulation factor V (proaccelerin, labile factor) ; Symbol:F5 ; xref: GENATLAS:F5 ; xref: HGNC:3542 ; xref: OMIM:612309 ; xref: UNIPROTKB/SWISSPROT:P12259 ; xref: REACTOME:P12259 ; xref: ENSEMBL:ENSG00000198734] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326 Parahemophilia Orphanet ID- 926 Proaccelerin deficiency OMIM:227400 prevalence- 1-9 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Owren's disease ICD10:D68.2 EXACT Parahemophilia EXACT Owren's disease EXACT Proaccelerin deficiency Liddle syndrome Pseudoaldosteronism Pseudohyperaldosteronism type 1 Pseudoaldosteronism Gene [OrphaNum:118539 ; Name:Sodium channel, nonvoltage-gated 1, gamma ; Symbol:SCNN1G ; xref: GENATLAS:SCNN1G ; xref: HGNC:10602 ; xref: OMIM:600761 ; xref: UNIPROTKB/SWISSPROT:P51170 ; xref: ENSEMBL:ENSG00000166828] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526 ICD10:I15.1 OMIM:177200 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- Autosomal dominant; Pseudohyperaldosteronism type 1 Gene [OrphaNum:118536 ; Name:Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) ; Symbol:SCNN1B ; xref: GENATLAS:SCNN1B ; xref: HGNC:10600 ; xref: OMIM:600760 ; xref: UNIPROTKB/SWISSPROT:P51168 ; xref: ENSEMBL:ENSG00000168447] Orphanet ID- 927 EXACT Pseudohyperaldosteronism type 1 EXACT Pseudoaldosteronism Hypomagnesemia caused by selective magnesium malabsorption HOMG1 Hypomagnesemia intestinal type 1 Intestinal hypomagnesemia with secondary hypocalcemia Hypomagnesemia intestinal type 1 HOMG1 OMIM:602014 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 9282 Intestinal hypomagnesemia with secondary hypocalcemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 ICD10:E83.4 Gene [OrphaNum:120301 ; Name:Transient receptor potential cation channel, subfamily M, member 6 ; Symbol:TRPM6 ; xref: GENATLAS:TRPM6 ; xref: HGNC:17995 ; xref: OMIM:607009 ; xref: UNIPROTKB/SWISSPROT:Q9BX84 ; xref: ENSEMBL:ENSG00000119121 ; xref: IUPHAR:498] EXACT HOMG1 EXACT Hypomagnesemia intestinal type 1 EXACT Intestinal hypomagnesemia with secondary hypocalcemia Non-acquired isolated central diabetes insipidus Gene [OrphaNum:118943 ; Name:Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) ; Symbol:AVP ; xref: GENATLAS:AVP ; xref: HGNC:894 ; xref: OMIM:192340 ; xref: UNIPROTKB/SWISSPROT:P01185 ; xref: ENSEMBL:ENSG00000101200 ; xref: REACTOME:P01185] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 Orphanet ID- 9283 OMIM:304900 OMIM:125700 prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Inheritance- X-linked dominant; ICD10:E23.2 Familial hypomagnesemia with hypercalciuria and nephrocalcinosis HOMG3 Hypomagnesemia renal type 3 Hypomagnesemia renal type 3 ICD10:E83.4 Orphanet ID- 9284 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-No data available; Inheritance- Autosomal recessive; HOMG3 OMIM:248250 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 Gene [OrphaNum:120625 ; Name:Claudin 16 ; Symbol:CLDN16 ; xref: GENATLAS:CLDN16 ; xref: HGNC:2037 ; xref: OMIM:603959 ; xref: UNIPROTKB/SWISSPROT:Q9Y5I7 ; xref: ENSEMBL:ENSG00000113946 ; xref: REACTOME:Q9Y5I7] EXACT HOMG3 EXACT Hypomagnesemia renal type 3 Dermatofibrosarcoma protuberans DFSP prevalence- 1-5 / 10 000; AgeOfOnset- Variable; AgeOfDeath-Adult; Inheritance- Sporadic; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 DFSP OMIM:607907 Gene [OrphaNum:120704 ; Name:Collagen, type I, alpha 1 ; Symbol:COL1A1 ; xref: GENATLAS:COL1A1 ; xref: HGNC:2197 ; xref: OMIM:120150 ; xref: UNIPROTKB/SWISSPROT:P02452 ; xref: REACTOME:P02452 ; xref: ENSEMBL:ENSG00000108821] Orphanet ID- 9285 Gene [OrphaNum:168409 ; Name:Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) ; Symbol:PDGFB ; xref: GENATLAS:PDGFB ; xref: HGNC:8800 ; xref: OMIM:190040 ; xref: UNIPROTKB/SWISSPROT:P01127 ; xref: ENSEMBL:ENSG00000100311 ; xref: REACTOME:P01127] EXACT DFSP Tangier disease OMIM:205400 Gene [OrphaNum:159528 ; Name:ATP-binding cassette, sub-family A (ABC1), member 1 ; Symbol:ABCA1 ; xref: GENATLAS:ABCA1 ; xref: HGNC:29 ; xref: OMIM:600046 ; xref: UNIPROTKB/SWISSPROT:O95477 ; xref: REACTOME:O95477 ; xref: ENSEMBL:ENSG00000165029] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 Orphanet ID- 9288 prevalence- 1 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-No data available; Inheritance- Autosomal recessive; ICD10:E78.6 Hypoalphalipoproteinemia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153 Orphanet ID- 9289 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Hypobetalipoproteinemia Orphanet ID- 9290 prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154 Nance-Horan syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 ICD10:K00.2 Gene [OrphaNum:123783 ; Name:Nance-Horan syndrome (congenital cataracts and dental anomalies) ; Symbol:NHS ; xref: ENSEMBL:ENSG00000188158 ; xref: GENATLAS:NHS ; xref: HGNC:7820 ; xref: OMIM:300457 ; xref: UNIPROTKB/SWISSPROT:Q6T4R5] ICD10:Q12.0 OMIM:302350 prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- X-linked dominant; ICD10:K00.1 Orphanet ID- 931 Young adult-onset Parkinsonism Early-onset Parkinson disease Familial Parkinson disease Hereditary Parkinson disease Young-onset Parkinson disease OMIM:168601 OMIM:168600 OMIM:610297 OMIM:300557 ICD10:G20 Gene [OrphaNum:285081 ; Name:Vacuolar Protein Sorting 35 Homolog (S. cerevisiae) ; Symbol:VPS35 ; xref: HGNC:13487 ; xref: GENATLAS:VPS35 ; xref: OMIM:601501 ; xref: UNIPROTKB/SWISSPROT:Q96QK1 ; xref: ENSEMBL:ENSG00000069329] Gene [OrphaNum:159799 ; Name:Nuclear receptor subfamily 4, group A, member 2 ; Symbol:NR4A2 ; xref: ENSEMBL:ENSG00000153234 ; xref: REACTOME:P43354 ; xref: GENATLAS:NR4A2 ; xref: HGNC:7981 ; xref: OMIM:601828 ; xref: UNIPROTKB/SWISSPROT:P43354 ; xref: IUPHAR:630] Gene [OrphaNum:159059 ; Name:GRB10 interacting GYF protein 2 ; Symbol:GIGYF2 ; xref: HGNC:11960 ; xref: OMIM:612003 ; xref: UNIPROTKB/SWISSPROT:Q6Y7W6 ; xref: GENATLAS:GIGYF2 ; xref: ENSEMBL:ENSG00000204120] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 Gene [OrphaNum:117822 ; Name:PTEN induced putative kinase 1 ; Symbol:PINK1 ; xref: GENATLAS:PINK1 ; xref: HGNC:14581 ; xref: OMIM:608309 ; xref: UNIPROTKB/SWISSPROT:Q9BXM7 ; xref: ENSEMBL:ENSG00000158828] OMIM:606693 Hereditary Parkinson disease OMIM:605909 OMIM:602404 OMIM:605543 Orphanet ID- 932 OMIM:614203 prevalence- 1-5 / 10 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; Gene [OrphaNum:120375 ; Name:Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) ; Symbol:UCHL1 ; xref: GENATLAS:UCHL1 ; xref: HGNC:12513 ; xref: OMIM:191342 ; xref: UNIPROTKB/SWISSPROT:P09936 ; xref: ENSEMBL:ENSG00000154277] Familial Parkinson disease OMIM:607688 Gene [OrphaNum:119763 ; Name:Synuclein, alpha (non A4 component of amyloid precursor) ; Symbol:SNCA ; xref: GENATLAS:SNCA ; xref: HGNC:11138 ; xref: OMIM:163890 ; xref: UNIPROTKB/SWISSPROT:P37840 ; xref: ENSEMBL:ENSG00000145335 ; xref: REACTOME:P37840] OMIM:613164 Gene [OrphaNum:124080 ; Name:Parkinson disease (autosomal recessive, juvenile) 2, parkin ; Symbol:PARK2 ; xref: ENSEMBL:ENSG00000185345 ; xref: REACTOME:O60260 ; xref: GENATLAS:PARK2 ; xref: HGNC:8607 ; xref: OMIM:602544 ; xref: UNIPROTKB/SWISSPROT:O60260] Gene [OrphaNum:122552 ; Name:HtrA serine peptidase 2 ; Symbol:HTRA2 ; xref: GENATLAS:HTRA2 ; xref: HGNC:14348 ; xref: OMIM:606441 ; xref: UNIPROTKB/SWISSPROT:O43464 ; xref: ENSEMBL:ENSG00000115317] Gene [OrphaNum:123301 ; Name:Leucine-rich repeat kinase 2 ; Symbol:LRRK2 ; xref: GENATLAS:LRRK2 ; xref: HGNC:18618 ; xref: OMIM:609007 ; xref: UNIPROTKB/SWISSPROT:Q5S007 ; xref: ENSEMBL:ENSG00000188906] Early-onset Parkinson disease OMIM:606852 Gene [OrphaNum:124084 ; Name:Parkinson disease (autosomal recessive, early onset) 7 ; Symbol:PARK7 ; xref: ENSEMBL:ENSG00000116288 ; xref: GENATLAS:PARK7 ; xref: HGNC:16369 ; xref: OMIM:602533 ; xref: UNIPROTKB/SWISSPROT:Q99497] Young-onset Parkinson disease OMIM:600116 Gene [OrphaNum:124056 ; Name:PARK2 co-regulated ; Symbol:PACRG ; xref: GENATLAS:PACRG ; xref: HGNC:19152 ; xref: OMIM:608427 ; xref: UNIPROTKB/SWISSPROT:Q96M98 ; xref: ENSEMBL:ENSG00000112530] OMIM:606324 Gene [OrphaNum:285068 ; Name:Eukaryotic Translation Initiation Factor 4 Gamma, 1 ; Symbol:EIF4G1 ; xref: HGNC:3296 ; xref: GENATLAS:EIF4G1 ; xref: OMIM:600495 ; xref: UNIPROTKB/SWISSPROT:Q04637 ; xref: REACTOME:Q04637 ; xref: ENSEMBL:ENSG00000114867] OMIM:613643 OMIM:556500 OMIM:607060 Gene [OrphaNum:121493 ; Name:ATPase type 13A2 ; Symbol:ATP13A2 ; xref: GENATLAS:ATP13A2 ; xref: HGNC:30213 ; xref: OMIM:610513 ; xref: UNIPROTKB/SWISSPROT:Q9NQ11 ; xref: ENSEMBL:ENSG00000159363] OMIM:614251 EXACT Familial Parkinson disease EXACT Early-onset Parkinson disease EXACT Hereditary Parkinson disease EXACT Young-onset Parkinson disease Campomelic dysplasia Campomelic dwarfism Gene [OrphaNum:119792 ; Name:SRY (sex determining region Y)-box 9 ; Symbol:SOX9 ; xref: UNIPROTKB/SWISSPROT:P48436 ; xref: GENATLAS:SOX9 ; xref: HGNC:11204 ; xref: OMIM:608160 ; xref: ENSEMBL:ENSG00000125398] OMIM:211990 Campomelic dwarfism OMIM:114290 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; OMIM:602196 ICD10:Q87.1 Orphanet ID- 933 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 EXACT Campomelic dwarfism Hereditary sensory and autonomic neuropathy type 4 HSAN 4 Insensitivity to pain - anhidrosis OMIM:256800 HSAN 4 Orphanet ID- 935 Insensitivity to pain - anhidrosis Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; ICD10:G60.8 Gene [OrphaNum:123961 ; Name:Neurotrophic tyrosine kinase, receptor, type 1 ; Symbol:NTRK1 ; xref: GENATLAS:NTRK1 ; xref: HGNC:8031 ; xref: OMIM:191315 ; xref: UNIPROTKB/SWISSPROT:P04629 ; xref: ENSEMBL:ENSG00000198400 ; xref: REACTOME:P04629] EXACT Insensitivity to pain - anhidrosis EXACT HSAN 4 Giant axonal neuropathy OMIM:256850 ICD10:G60.8 Gene [OrphaNum:122015 ; Name:Giant axonal neuropathy (gigaxonin) ; Symbol:GAN ; xref: GENATLAS:GAN ; xref: HGNC:4137 ; xref: OMIM:605379 ; xref: UNIPROTKB/SWISSPROT:Q9H2C0 ; xref: REACTOME:Q9H2C0 ; xref: ENSEMBL:ENSG00000127688] Orphanet ID- 936 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; Hereditary chronic pancreatitis Gene [OrphaNum:118265 ; Name:Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) ; Symbol:REG1A ; xref: GENATLAS:REG1A ; xref: HGNC:9951 ; xref: OMIM:167770 ; xref: UNIPROTKB/SWISSPROT:P05451 ; xref: ENSEMBL:ENSG00000115386] Gene [OrphaNum:118080 ; Name:Protease, serine, 1 (trypsin 1) ; Symbol:PRSS1 ; xref: GENATLAS:PRSS1 ; xref: HGNC:9475 ; xref: OMIM:276000 ; xref: UNIPROTKB/SWISSPROT:P07477 ; xref: ENSEMBL:ENSG00000204983 ; xref: REACTOME:P07477] ICD10:K86.1 OMIM:167800 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 Gene [OrphaNum:119382 ; Name:Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) ; Symbol:CFTR ; xref: ENSEMBL:ENSG00000001626 ; xref: REACTOME:P13569 ; xref: GENATLAS:CFTR ; xref: HGNC:1884 ; xref: OMIM:602421 ; xref: UNIPROTKB/SWISSPROT:P13569] Gene [OrphaNum:139109 ; Name:Chymotrypsin C (caldecrin) ; Symbol:CTRC ; xref: GENATLAS:CTRC ; xref: HGNC:2523 ; xref: OMIM:601405 ; xref: UNIPROTKB/SWISSPROT:Q99895 ; xref: ENSEMBL:ENSG00000162438] Orphanet ID- 937 Gene [OrphaNum:119834 ; Name:Serine peptidase inhibitor, Kazal type 1 ; Symbol:SPINK1 ; xref: GENATLAS:SPINK1 ; xref: HGNC:11244 ; xref: OMIM:167790 ; xref: UNIPROTKB/SWISSPROT:P00995 ; xref: ENSEMBL:ENSG00000164266] prevalence- 1-9 / 1 000 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal dominant; Gene [OrphaNum:139106 ; Name:Protease, serine, 2 (trypsin 2) ; Symbol:PRSS2 ; xref: GENATLAS:PRSS2 ; xref: HGNC:9483 ; xref: OMIM:601564 ; xref: UNIPROTKB/SWISSPROT:P07478 ; xref: REACTOME:P07478] Netherton syndrome Bamboo hair syndrome Comèl-Netherton syndrome NS NS Gene [OrphaNum:119840 ; Name:Serine peptidase inhibitor, Kazal type 5 ; Symbol:SPINK5 ; xref: GENATLAS:SPINK5 ; xref: HGNC:15464 ; xref: OMIM:605010 ; xref: UNIPROTKB/SWISSPROT:Q9NQ38 ; xref: ENSEMBL:ENSG00000133710] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Orphanet ID- 938 OMIM:256500 ICD10:Q80.8 ICD10:L67.0 Comèl-Netherton syndrome Bamboo hair syndrome EXACT Bamboo hair syndrome EXACT NS EXACT Comèl-Netherton syndrome Fabry disease Alpha-galactosidase A deficiency Anderson-Fabry disease Angiokeratoma Corporis Diffusum Diffuse angiokeratoma FD Fabry's disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 FD Angiokeratoma Corporis Diffusum ICD10:E75.2 Orphanet ID- 94 Fabry's disease OMIM:301500 Anderson-Fabry disease prevalence- 1-5 / 10 000; AgeOfOnset- Childhood; AgeOfDeath-Adult; Inheritance- X-linked recessive; Alpha-galactosidase A deficiency Diffuse angiokeratoma Gene [OrphaNum:122153 ; Name:Galactosidase, alpha ; Symbol:GLA ; xref: GENATLAS:GLA ; xref: HGNC:4296 ; xref: OMIM:300644 ; xref: UNIPROTKB/SWISSPROT:P06280 ; xref: ENSEMBL:ENSG00000102393 ; xref: REACTOME:P06280] EXACT Alpha-galactosidase A deficiency EXACT FD EXACT Angiokeratoma Corporis Diffusum EXACT Fabry's disease EXACT Diffuse angiokeratoma EXACT Anderson-Fabry disease Caudal regression sequence Caudal dysplasia Sacral agenesis syndrome Sacral regression syndrome Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 Sacral agenesis syndrome ICD10:Q76.0 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Multigenic/multifactorial; Inheritance- Sporadic; Orphanet ID- 946 Gene [OrphaNum:138557 ; Name:Vang-like 1 (van gogh, Drosophila) ; Symbol:VANGL1 ; xref: ENSEMBL:ENSG00000173218 ; xref: GENATLAS:VANGL1 ; xref: HGNC:15512 ; xref: OMIM:610132 ; xref: UNIPROTKB/SWISSPROT:Q8TAA9] Gene [OrphaNum:119908 ; Name:T, brachyury homolog (mouse) ; Symbol:T ; xref: GENATLAS:T ; xref: HGNC:11515 ; xref: OMIM:601397 ; xref: UNIPROTKB/SWISSPROT:O15178 ; xref: ENSEMBL:ENSG00000164458] OMIM:600145 Sacral regression syndrome Caudal dysplasia EXACT Caudal dysplasia EXACT Sacral agenesis syndrome EXACT Sacral regression syndrome Atrial tachyarrhythmia with short PR interval Lown-Ganong-Levine syndrome OMIM:108950 ICD10:I45.6 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=844 Lown-Ganong-Levine syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; Inheritance- Sporadic; Orphanet ID- 950 EXACT Lown-Ganong-Levine syndrome Seckel syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Gene [OrphaNum:292698 ; Name:Retinoblastoma binding protein 8 ; Symbol:RBBP8 ; xref: HGNC:9891 ; xref: OMIM:604124 ; xref: GENATLAS:RBBP8 ; xref: UNIPROTKB/SWISSPROT:Q99708] Gene [OrphaNum:119336 ; Name:Centromere protein J ; Symbol:CENPJ ; xref: GENATLAS:CENPJ ; xref: HGNC:17272 ; xref: OMIM:609279 ; xref: UNIPROTKB/SWISSPROT:Q9HC77 ; xref: ENSEMBL:ENSG00000151849 ; xref: REACTOME:Q9HC77] Gene [OrphaNum:159181 ; Name:Pericentrin ; Symbol:PCNT ; xref: GENATLAS:PCNT ; xref: HGNC:16068 ; xref: OMIM:605925 ; xref: UNIPROTKB/SWISSPROT:O95613 ; xref: ENSEMBL:ENSG00000160299 ; xref: REACTOME:O95613] OMIM:613676 OMIM:606744 ICD10:Q87.1 Orphanet ID- 954 OMIM:210600 Gene [OrphaNum:240669 ; Name:Centrosomal protein 152kDa ; Symbol:CEP152 ; xref: GENATLAS:CEP152 ; xref: HGNC:29298 ; xref: OMIM:613529 ; xref: UNIPROTKB/SWISSPROT:O94986 ; xref: ENSEMBL:ENSG00000103995 ; xref: REACTOME:O94986] OMIM:600546 Gene [OrphaNum:118896 ; Name:Ataxia telangiectasia and Rad3 related ; Symbol:ATR ; xref: GENATLAS:ATR ; xref: HGNC:882 ; xref: OMIM:601215 ; xref: UNIPROTKB/SWISSPROT:Q13535 ; xref: ENSEMBL:ENSG00000175054 ; xref: REACTOME:Q13535] OMIM:613823 OMIM:608664 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 Waardenburg-Shah syndrome Shah-Waardenburg syndrome WS4 Waardenburg syndrome type 4 Waardenburg-Hirschsprung syndrome Gene [OrphaNum:121284 ; Name:Endothelin 3 ; Symbol:EDN3 ; xref: GENATLAS:EDN3 ; xref: HGNC:3178 ; xref: OMIM:131242 ; xref: UNIPROTKB/SWISSPROT:P14138 ; xref: ENSEMBL:ENSG00000124205 ; xref: REACTOME:P14138] Waardenburg-Hirschsprung syndrome OMIM:613266 OMIM:613265 Shah-Waardenburg syndrome WS4 OMIM:277580 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; ICD10:Q87.8 Gene [OrphaNum:121287 ; Name:Endothelin receptor type B ; Symbol:EDNRB ; xref: GENATLAS:EDNRB ; xref: HGNC:3180 ; xref: OMIM:131244 ; xref: UNIPROTKB/SWISSPROT:P24530 ; xref: ENSEMBL:ENSG00000136160 ; xref: IUPHAR:220 ; xref: REACTOME:P24530] Gene [OrphaNum:119786 ; Name:SRY (sex determining region Y)-box 10 ; Symbol:SOX10 ; xref: GENATLAS:SOX10 ; xref: HGNC:11190 ; xref: OMIM:602229 ; xref: UNIPROTKB/SWISSPROT:P56693 ; xref: ENSEMBL:ENSG00000100146] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 Waardenburg syndrome type 4 Orphanet ID- 959 EXACT Waardenburg syndrome type 4 EXACT Shah-Waardenburg syndrome EXACT Waardenburg-Hirschsprung syndrome EXACT WS4 Werner syndrome Adult progeria WS ICD10:E34.8 Adult progeria Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 OMIM:277700 prevalence- 1-9 / 1 000 000; AgeOfOnset- Adolescence / Young adulthood; AgeOfDeath-null; Inheritance- Autosomal recessive; Orphanet ID- 960 Gene [OrphaNum:120545 ; Name:Werner syndrome gene ; Symbol:WRN ; xref: GENATLAS:WRN ; xref: HGNC:12791 ; xref: OMIM:604611 ; xref: UNIPROTKB/SWISSPROT:Q14191 ; xref: ENSEMBL:ENSG00000165392] WS EXACT WS EXACT Adult progeria PIBIDS syndrome Trichothiodystrophy - sun sensitivity Trichothiodystrophy type F ICD10:L67.8 OMIM:601675 Gene [OrphaNum:121590 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ; Symbol:ERCC2 ; xref: GENATLAS:ERCC2 ; xref: HGNC:3434 ; xref: OMIM:126340 ; xref: UNIPROTKB/SWISSPROT:P18074 ; xref: REACTOME:P18074 ; xref: ENSEMBL:ENSG00000104884] Gene [OrphaNum:132264 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 3 ; Symbol:ERCC3 ; xref: GENATLAS:ERCC3 ; xref: HGNC:3435 ; xref: OMIM:133510 ; xref: UNIPROTKB/SWISSPROT:P19447 ; xref: ENSEMBL:ENSG00000163161 ; xref: REACTOME:P19447] Trichothiodystrophy type F Trichothiodystrophy - sun sensitivity ICD10:Q80.8 Gene [OrphaNum:122302 ; Name:General transcription factor IIH, polypeptide 5 ; Symbol:GTF2H5 ; xref: GENATLAS:GTF2H5 ; xref: HGNC:21157 ; xref: OMIM:608780 ; xref: UNIPROTKB/SWISSPROT:Q6ZYL4 ; xref: ENSEMBL:ENSG00000185068] Orphanet ID- 963 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=670 ICD10:Q87.1 EXACT Trichothiodystrophy - sun sensitivity EXACT Trichothiodystrophy type F Familial progressive cardiac conduction defect Familial progressive heart block Lev-Lenegre disease OMIM:113950 OMIM:115080 Gene [OrphaNum:123797 ; Name:NK2 transcription factor related, locus 5 (Drosophila) ; Symbol:NKX2-5 ; xref: GENATLAS:NKX2-5 ; xref: HGNC:2488 ; xref: OMIM:600584 ; xref: UNIPROTKB/SWISSPROT:P52952 ; xref: ENSEMBL:ENSG00000183072] OMIM:608567 Familial progressive heart block OMIM:113900 Lev-Lenegre disease Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 OMIM:140400 Gene [OrphaNum:209301 ; Name:Transient receptor potential cation channel, subfamily M, member 4 ; Symbol:TRPM4 ; xref: ENSEMBL:ENSG00000130529 ; xref: IUPHAR:496 ; xref: GENATLAS:TRPM4 ; xref: HGNC:17993 ; xref: OMIM:606936 ; xref: UNIPROTKB/SWISSPROT:Q8TD43] OMIM:604559 prevalence- Unknown; AgeOfOnset- Variable; AgeOfDeath-null; Inheritance- Autosomal dominant; ICD10:Q20.9 Orphanet ID- 965 EXACT Lev-Lenegre disease EXACT Familial progressive heart block IBIDS syndrome Tay syndrome Trichothiodystrophy type E Trichothiodystrophy with congenital ichthyosis Tay syndrome Gene [OrphaNum:122302 ; Name:General transcription factor IIH, polypeptide 5 ; Symbol:GTF2H5 ; xref: GENATLAS:GTF2H5 ; xref: HGNC:21157 ; xref: OMIM:608780 ; xref: UNIPROTKB/SWISSPROT:Q6ZYL4 ; xref: ENSEMBL:ENSG00000185068] Gene [OrphaNum:132264 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 3 ; Symbol:ERCC3 ; xref: GENATLAS:ERCC3 ; xref: HGNC:3435 ; xref: OMIM:133510 ; xref: UNIPROTKB/SWISSPROT:P19447 ; xref: ENSEMBL:ENSG00000163161 ; xref: REACTOME:P19447] Orphanet ID- 966 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; Trichothiodystrophy with congenital ichthyosis OMIM:601675 Gene [OrphaNum:121590 ; Name:Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) ; Symbol:ERCC2 ; xref: GENATLAS:ERCC2 ; xref: HGNC:3434 ; xref: OMIM:126340 ; xref: UNIPROTKB/SWISSPROT:P18074 ; xref: REACTOME:P18074 ; xref: ENSEMBL:ENSG00000104884] ICD10:Q87.1 ICD10:L67.8 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453 ICD10:Q80.8 Trichothiodystrophy type E EXACT Trichothiodystrophy with congenital ichthyosis EXACT Trichothiodystrophy type E EXACT Tay syndrome Van Der Woude syndrome Cleft lip and/or palate with mucous cysts of lower lip Lip-pit syndrome VWS Orphanet ID- 967 Cleft lip and/or palate with mucous cysts of lower lip OMIM:119300 OMIM:606713 prevalence- 1-9 / 100 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Lip-pit syndrome Gene [OrphaNum:300059 ; Name:WD repeat domain 65 ; Symbol:WDR65 ; xref: HGNC:26485 ; xref: OMIM:614259 ; xref: GENATLAS:WDR65 ; xref: UNIPROTKB/SWISSPROT:Q96MR6] VWS ICD10:Q38.0 OMIM:604547 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 Gene [OrphaNum:122684 ; Name:Interferon regulatory factor 6 ; Symbol:IRF6 ; xref: REACTOME:O14896 ; xref: GENATLAS:IRF6 ; xref: HGNC:6121 ; xref: OMIM:607199 ; xref: UNIPROTKB/SWISSPROT:O14896 ; xref: ENSEMBL:ENSG00000117595] EXACT Cleft lip and/or palate with mucous cysts of lower lip EXACT VWS EXACT Lip-pit syndrome Peters-plus syndrome Peters anomaly with short limb dwarfism Peters anomaly with short limb dwarfism Orphanet ID- 968 Gene [OrphaNum:118958 ; Name:Beta 1,3-galactosyltransferase-like ; Symbol:B3GALTL ; xref: GENATLAS:B3GALTL ; xref: HGNC:20207 ; xref: OMIM:610308 ; xref: UNIPROTKB/SWISSPROT:Q6Y288 ; xref: ENSEMBL:ENSG00000187676] ICD10:Q13.4 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 OMIM:261540 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal recessive; EXACT Peters anomaly with short limb dwarfism Autosomal recessive polycystic kidney disease Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 ICD10:Q61.1 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:263200 Orphanet ID- 97 Gene [OrphaNum:117853 ; Name:Polycystic kidney and hepatic disease 1 (autosomal recessive) ; Symbol:PKHD1 ; xref: GENATLAS:PKHD1 ; xref: HGNC:9016 ; xref: OMIM:606702 ; xref: UNIPROTKB/SWISSPROT:Q8TCZ9 ; xref: ENSEMBL:ENSG00000170927 ; xref: REACTOME:Q8TCZ9] Roberts syndrome Pseudothalidomide syndrome Roberts-SC phocomelia syndrome SC phocomelia SC pseudothalidomide syndrome Roberts-SC phocomelia syndrome OMIM:269000 SC phocomelia Pseudothalidomide syndrome prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; Gene [OrphaNum:121610 ; Name:Establishment of cohesion 1 homolog 2 (S. cerevisiae) ; Symbol:ESCO2 ; xref: GENATLAS:ESCO2 ; xref: HGNC:27230 ; xref: OMIM:609353 ; xref: UNIPROTKB/SWISSPROT:Q56NI9 ; xref: ENSEMBL:ENSG00000171320] ICD10:Q73.8 SC pseudothalidomide syndrome OMIM:268300 Orphanet ID- 971 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 EXACT Roberts-SC phocomelia syndrome EXACT Pseudothalidomide syndrome EXACT SC pseudothalidomide syndrome EXACT SC phocomelia X-linked intellectual deficit with marfanoid habitus Lujan syndrome Lujan-Fryns syndrome X-linked mental retardation with marfanoid habitus XLMR with marfanoid habitus Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 Gene [OrphaNum:138486 ; Name:Mediator complex subunit 12 ; Symbol:MED12 ; xref: GENATLAS:MED12 ; xref: HGNC:11957 ; xref: OMIM:300188 ; xref: UNIPROTKB/SWISSPROT:Q93074 ; xref: ENSEMBL:ENSG00000184634 ; xref: REACTOME:Q93074] Gene [OrphaNum:159373 ; Name:UPF3 regulator of nonsense transcripts homolog B (yeast) ; Symbol:UPF3B ; xref: ENSEMBL:ENSG00000125351 ; xref: REACTOME:Q9BZI7 ; xref: GENATLAS:UPF3B ; xref: HGNC:20439 ; xref: OMIM:300298 ; xref: UNIPROTKB/SWISSPROT:Q9BZI7] Orphanet ID- 972 Lujan syndrome Lujan-Fryns syndrome XLMR with marfanoid habitus OMIM:309520 X-linked mental retardation with marfanoid habitus ICD10:F79 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- X-linked recessive; Gene [OrphaNum:159313 ; Name:Zinc finger, DHHC-type containing 9 ; Symbol:ZDHHC9 ; xref: GENATLAS:ZDHHC9 ; xref: HGNC:18475 ; xref: OMIM:300646 ; xref: UNIPROTKB/SWISSPROT:Q9Y397 ; xref: ENSEMBL:ENSG00000188706] EXACT Lujan syndrome EXACT X-linked mental retardation with marfanoid habitus EXACT XLMR with marfanoid habitus EXACT Lujan-Fryns syndrome ICCA syndrome Infantile convulsions and choreoathetosis Infantile convulsions and choreoathetosis ICD10:G40.4 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:602066 Orphanet ID- 9793 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 Gene [OrphaNum:291703 ; Name:Proline-rich transmembrane protein 2 ; Symbol:PRRT2 ; xref: HGNC:30500 ; xref: GENATLAS:PRRT2 ; xref: ENSEMBL:ENSG00000167371 ; xref: UNIPROTKB/SWISSPROT:Q7Z6L0 ; xref: OMIM:614386] EXACT Infantile convulsions and choreoathetosis Pulmonary venoocclusive disease OMIM:265450 Gene [OrphaNum:119057 ; Name:Bone morphogenetic protein receptor, type II (serine/threonine kinase) ; Symbol:BMPR2 ; xref: GENATLAS:BMPR2 ; xref: HGNC:1078 ; xref: OMIM:600799 ; xref: UNIPROTKB/SWISSPROT:Q13873 ; xref: REACTOME:Q13873 ; xref: ENSEMBL:ENSG00000204217] prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837 Orphanet ID- 9801 Atrial cardiomyopathy with heart block Atrial stand still Gene [OrphaNum:138503 ; Name:Gap junction protein, alpha 5, 40kDa ; Symbol:GJA5 ; xref: GENATLAS:GJA5 ; xref: HGNC:4279 ; xref: OMIM:121013 ; xref: UNIPROTKB/SWISSPROT:P36382 ; xref: ENSEMBL:ENSG00000143140 ; xref: REACTOME:P36382] ICD10:I42.0 Orphanet ID- 982 Gene [OrphaNum:118513 ; Name:Sodium channel, voltage-gated, type V, alpha subunit ; Symbol:SCN5A ; xref: GENATLAS:SCN5A ; xref: HGNC:10593 ; xref: OMIM:600163 ; xref: UNIPROTKB/SWISSPROT:Q14524 ; xref: IUPHAR:582 ; xref: ENSEMBL:ENSG00000183873 ; xref: REACTOME:Q14524] ICD10:I44.0 Atrial stand still prevalence- Unknown; AgeOfOnset- Adulthood; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 OMIM:108770 EXACT Atrial stand still Uveal coloboma - cleft lip and palate - intellectual deficit OMIM:120433 prevalence- 1 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal dominant; Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 ICD10:Q12.2 Orphanet ID- 988 Ocular coloboma prevalence- null; AgeOfOnset- null; AgeOfDeath-null; Orphanet ID- 989 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=194 Von Hippel-Lindau disease Cerebelloretinal angiomatosis, Familial Familial cerebello-retinal angiomatosis Hippel-Lindau disease Lindau disease VHL Von Hippel-Lindau syndrome OMIM:193300 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 Familial cerebello-retinal angiomatosis Orphanet ID- 99 VHL prevalence- 1-9 / 100 000; AgeOfOnset- Adulthood; AgeOfDeath-Elderly; Inheritance- Autosomal dominant; ICD10:Q85.8 Hippel-Lindau disease Von Hippel-Lindau syndrome Lindau disease Cerebelloretinal angiomatosis, Familial Gene [OrphaNum:120467 ; Name:Von Hippel-Lindau tumor suppressor ; Symbol:VHL ; xref: GENATLAS:VHL ; xref: HGNC:12687 ; xref: OMIM:608537 ; xref: UNIPROTKB/SWISSPROT:P40337 ; xref: ENSEMBL:ENSG00000134086 ; xref: REACTOME:P40337] EXACT VHL EXACT Cerebelloretinal angiomatosis, Familial EXACT Lindau disease EXACT Familial cerebello-retinal angiomatosis EXACT Von Hippel-Lindau syndrome EXACT Hippel-Lindau disease Benign familial neonatal seizures Benign familial neonatal convulsions Benign familial neonatal epilepsy ICD10:G40.3 Benign familial neonatal convulsions Orphanet ID- 990 OMIM:121200 Gene [OrphaNum:122817 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 3 ; Symbol:KCNQ3 ; xref: GENATLAS:KCNQ3 ; xref: HGNC:6297 ; xref: OMIM:602232 ; xref: UNIPROTKB/SWISSPROT:O43525 ; xref: IUPHAR:562 ; xref: ENSEMBL:ENSG00000184156 ; xref: REACTOME:O43525] OMIM:121201 OMIM:269720 Benign familial neonatal epilepsy Gene [OrphaNum:122808 ; Name:Potassium voltage-gated channel, KQT-like subfamily, member 2 ; Symbol:KCNQ2 ; xref: GENATLAS:KCNQ2 ; xref: HGNC:6296 ; xref: OMIM:602235 ; xref: UNIPROTKB/SWISSPROT:O43526 ; xref: IUPHAR:561 ; xref: ENSEMBL:ENSG00000075043 ; xref: REACTOME:O43526] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 OMIM:608217 prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Inheritance- Autosomal recessive; EXACT Benign familial neonatal convulsions EXACT Benign familial neonatal epilepsy Clouston syndrome Hidrotic ectodermal dysplasia Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 Gene [OrphaNum:122142 ; Name:Gap junction protein, beta 6 ; Symbol:GJB6 ; xref: GENATLAS:GJB6 ; xref: HGNC:4288 ; xref: OMIM:604418 ; xref: UNIPROTKB/SWISSPROT:O95452 ; xref: ENSEMBL:ENSG00000121742 ; xref: REACTOME:O95452] OMIM:129500 prevalence- 1-9 / 100 000; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; Orphanet ID- 991 Hidrotic ectodermal dysplasia ICD10:Q82.8 EXACT Hidrotic ectodermal dysplasia Severe combined immunodeficiency, alymphocytotic type SCID, Athabaskan type SCID, alymphocytotic type Severe combined immunodeficiency, Athabaskan type prevalence- 1-9 / 1 000 000; AgeOfOnset- Neonatal/infancy; AgeOfDeath-null; Inheritance- Autosomal recessive; OMIM:601457 SCID, Athabaskan type ICD10:D81.1 Gene [OrphaNum:118218 ; Name:Recombination activating gene 2 ; Symbol:RAG2 ; xref: GENATLAS:RAG2 ; xref: HGNC:9832 ; xref: OMIM:179616 ; xref: UNIPROTKB/SWISSPROT:P55895 ; xref: ENSEMBL:ENSG00000175097] Gene [OrphaNum:118215 ; Name:Recombination activating gene 1 ; Symbol:RAG1 ; xref: GENATLAS:RAG1 ; xref: HGNC:9831 ; xref: OMIM:179615 ; xref: UNIPROTKB/SWISSPROT:P15918 ; xref: ENSEMBL:ENSG00000166349] Severe combined immunodeficiency, Athabaskan type Orphanet ID- 993 OMIM:602450 Gene [OrphaNum:121027 ; Name:DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) ; Symbol:DCLRE1C ; xref: GENATLAS:DCLRE1C ; xref: HGNC:17642 ; xref: OMIM:605988 ; xref: UNIPROTKB/SWISSPROT:Q96SD1 ; xref: ENSEMBL:ENSG00000152457] Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275 SCID, alymphocytotic type EXACT Severe combined immunodeficiency, Athabaskan type EXACT SCID, alymphocytotic type EXACT SCID, Athabaskan type Cherubism Gene [OrphaNum:118689 ; Name:SH3-domain binding protein 2 ; Symbol:SH3BP2 ; xref: GENATLAS:SH3BP2 ; xref: HGNC:10825 ; xref: OMIM:602104 ; xref: UNIPROTKB/SWISSPROT:P78314 ; xref: ENSEMBL:ENSG00000087266] prevalence- Unknown; AgeOfOnset- Childhood; AgeOfDeath-Normal; Inheritance- Autosomal dominant; OMIM:118400 Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 Orphanet ID- 996 ICD10:K10.8 Chylomicron retention disease Anderson disease CMRD CRD Expert Link -http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 Anderson disease Orphanet ID- 998 CMRD prevalence- Unknown; AgeOfOnset- Neonatal/infancy; AgeOfDeath-No data available; Inheritance- Autosomal recessive; CRD Gene [OrphaNum:118465 ; Name:SAR1 gene homolog B (S. cerevisiae) ; Symbol:SAR1B ; xref: GENATLAS:SAR1B ; xref: HGNC:10535 ; xref: OMIM:607690 ; xref: UNIPROTKB/SWISSPROT:Q9Y6B6 ; xref: ENSEMBL:ENSG00000152700 ; xref: REACTOME:Q9Y6B6] ICD10:E78.6 OMIM:246700 EXACT CMRD EXACT CRD EXACT Anderson disease ENCODE ENCODE website <http://www.genome.gov/10005107> ENCODE, full name the Encyclopedia Of DNA Elements, is a public research consortium which has the aim of identifying all functional elements in the human genome sequence. James Malone The International HapMap Project James Malone Tha HapMap Project webpage <http://hapmap.ncbi.nlm.nih.gov> The International HapMap Project is a partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals. posterior_to BSPO:0000099 caudal_to posterior_to posterior_to uberon x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. BSPO:cjm x posterior_to y iff x is further along the antero-posterior axis than y, towards the body/tail. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail. dorsal_to BSPO:0000098 dorsal_to dorsal_to uberon x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). BSPO:cjm x dorsal_to y iff x is further along the dorso-ventral axis than y, towards the back. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). simultaneous_with RO:0002082 Relation between occurrents, shares start and end boundaries. coincides_with is_equal_to simultaneous_with simultaneous_with uberon Allen:is_equal_to Relation between occurrents, shares start and end boundaries. https://orcid.org/0000-0002-6601-2165 existence_ends_at c existence_ends_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e before e2). existence_ends_at uberon c existence_ends_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e before e2). https://orcid.org/0000-0002-6601-2165 has_quality has_quality has_quality http://semanticscience.org/resource/SIO_000008 uberon develops_into RO:0002203 develops_into develops_into uberon directly_develops_from RO:0002207 directly_develops_from directly_develops_from uberon immediately_preceded_by A non-transitive temporal relation in which one process immediately precedes another process, such that there is no interval of time between the two processes[SIO:000251]. RO:0002087 X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) directly preceded by http://semanticscience.org/resource/SIO_000251 immediately_preceded_by immediately_preceded_by is directly preceded by is immediately preceded by starts_at_end_of uberon SIO:000251 is immediately preceded by A non-transitive temporal relation in which one process immediately precedes another process, such that there is no interval of time between the two processes[SIO:000251]. SIO:000251 confers_advantage_in RO:0002322 adapted_for confers_advantage_in confers_advantage_in uberon existence_starts_with Relation between continuant and occurrent, such that c comes into existence at the start of p. existence_starts_with uberon Relation between continuant and occurrent, such that c comes into existence at the start of p. https://orcid.org/0000-0002-6601-2165 preaxial_to BSPO:1000000 anterior_to (developmentally) lateral (radial) to medial (tibial) to preaxial_to preaxial_to uberon x preaxial_to y iff x is further along the preaxial-postaxial axis than y, towards the front. MA:th anterior_to (developmentally) http://medical-dictionary.thefreedictionary.com/preaxial x preaxial_to y iff x is further along the preaxial-postaxial axis than y, towards the front. transitively anteriorly connected to . transitively_anteriorly_connected_to uberon . UBERONREF:0000004 composed_primarily_of UBREL:0000002 composed_primarily_of composed_primarily_of uberon x composed_primarily_of y iff: more than half of the mass of x is made from parts of y connected to Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. Connection does not imply overlaps. UBREL:0000001 connected_to connected_to http://purl.obolibrary.org/obo/uberon/references/reference_0000004 uberon Binary relationship: x connected_to y if and only if there exists some z such that z connects x and y in a ternary connected_to(x,y,z) relationship. UBERONREF:0000004 anterior_to 2009-07-31T02:15:46Z BSPO:0000096 anterior_to anterior_to cjm uberon x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer BSPO:cjm x anterior_to y iff x is further along the antero-posterior axis than y, towards the head. An antero-posterior axis is an axis that bisects an organism from head end to opposite end of body or tail: bearer distal_to BSPO:0000097 distal_to distal_to uberon x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). BSPO:cjm x distal_to y iff x is further along the proximo-distal axis than y, towards the appendage tip. A proximo-distal axis extends from tip of an appendage (distal) to where it joins the body (proximal). developmentally_replaces RO:0002285 developmentally_replaces developmentally_replaces uberon channels_from channels_from uberon branch_of FMA:85994 Source: FMA. Editor note: we need to check if FMA branch_of implies part_of. the relation we intend to use here should - for example, see vestibulocochlear nerve branch_of uberon produced_by RO:0003001 produced_by produced_by uberon existence_ends_before Relation between continuant c and occurrent s, such that every instance of c ceases to exist before s. existence_ends_before uberon Relation between continuant c and occurrent s, such that every instance of c ceases to exist before s. https://orcid.org/0000-0002-6601-2165 tributary_of taken from the FMA tributary_of uberon drains drains drains blood from drains from source: Wikipedia uberon posteriorly connected to posteriorly_connected_to uberon x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. UBERONREF:0000004 x posteriorly_connected_to y iff the posterior part of x is connected to y. i.e. x connected_to y and x anterior_to y. existence_ends_with Relation between continuant and occurrent, such that c ceases to exist at the end of p. existence_ends_with uberon Relation between continuant and occurrent, such that c ceases to exist at the end of p. https://orcid.org/0000-0002-6601-2165 preaxialmost_part_of BSPO:0001113 preaxialmost_part_of preaxialmost_part_of uberon transformation_of http://semanticscience.org/resource/SIO_000657 transformation_of transformation_of transforms from uberon SIO:000657 transforms from postaxialmost_part_of BSPO:0001115 postaxialmost_part_of postaxialmost_part_of uberon postaxial_to BSPO:0001114 postaxial_to postaxial_to posterior_to (developmentally) uberon x preaxial_to y iff x is further along the preaxial-postaxial axis than y, towards the postaxial side. MA:th posterior_to (developmentally) http://medical-dictionary.thefreedictionary.com/postaxial x preaxial_to y iff x is further along the preaxial-postaxial axis than y, towards the postaxial side. transitively_connected to transitively_connected_to uberon in taxon RO:0002162 in_taxon in_taxon uberon existence_starts_and_ends_during existence_starts_and_ends_during uberon encloses encloses uberon x encloses y iff the convex hull formed by x contains all or the majority of y. https://orcid.org/0000-0002-6601-2165 x encloses y iff the convex hull formed by x contains all or the majority of y. true distalmost_part_of BSPO:0001108 X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y distalmost_part_of distalmost_part_of uberon X distalmost_part_of Y <=> X is part_of Y and X is adjacent_to the distal boundary of Y https://orcid.org/0000-0002-6601-2165 homologous_to RO:0002158 homologous_to homologous_to uberon serially_homologous_to RO:0002159 serially_homologous_to serially_homologous_to uberon immediately_deep_to BSPO:0001107 This relation holds when both the deep_to and ajdacent_to relationship similarly hold. immediately_deep_to immediately_deep_to uberon BSPO:cjm This relation holds when both the deep_to and ajdacent_to relationship similarly hold. subdivision of placeholder relation. X = 'subdivision of A' and subdivision_of some B means that X is the mereological sum of A and B subdivision_of uberon existence_starts_at c existence_starts_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e2 before e) existence_starts_at uberon c existence_starts_at e iff c exists_at e and not ( exists e2 : c exists_at e2 and e2 before e) https://orcid.org/0000-0002-6601-2165 in_deep_part_of BSPO:0001101 X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion. in_deep_part_of in_deep_part_of uberon BSPO:cjm X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the deep portion. in_superficial_part_of BSPO:0001100 X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the superficial portion. in_superficial_part_of in_superficial_part_of uberon BSPO:cjm X superficial_part_of Y <=> if Y is subdivided into two superficial and deep portions, X is part_of the superficial portion. proximalmost_part_of BSPO:0001106 X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y proximalmost_part_of proximalmost_part_of uberon X proximalmost_part_of Y <=> X is part_of Y and X is adjacent_to the proximal boundary of Y https://orcid.org/0000-0002-6601-2165 channel for carries channel_for uberon located_in RO:0001025 located_in located_in uberon has developmental contribution from RO:0002254 has_developmental_contribution_from has_developmental_contribution_from uberon has_start has_start uberon developmentally_contributes_to RO:0002255 developmentally_contributes_to developmentally_contributes_to uberon transitively distally connected to . transitively_distally_connected_to uberon . UBERONREF:0000004 developmentally_induced_by RO:0002256 developmentally_induced_by developmentally_induced_by sources for developmentally_induced_by relationships in Uberon: Developmental Biology, Gilbert, 8th edition, figure 6.5(F) t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T. uberon GO:0001759 t1 developmentally_induced_by t2 if there is a process of organ induction (GO:0001759) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor tissue type T to T', where T' develops_from T. in_left_side_of BSPO:0000120 X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. http://purl.obolibrary.org/obo/uberon/references/reference_0000014 in_left_side_of in_left_side_of uberon BSPO:PATO_mtg_2009 X in_left_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the left portion. in_right_side_of BSPO:0000121 X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. http://purl.obolibrary.org/obo/uberon/references/reference_0000014 in_right_side_of in_right_side_of uberon BSPO:PATO_mtg_2009 X in_right_side_of Y <=> if Y is subdivided into left and right portions, X is part_of the right portion. in_posterior_side_of BSPO:0000122 X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. in_posterior_side_of in_posterior_side_of uberon BSPO:PATO_mtg_2009 X posterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the posterior portion. in_anterior_side_of BSPO:0000123 X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. in_anterior_side_of in_anterior_side_of uberon BSPO:PATO_mtg_2009 X anterior_side_of Y <=> if Y is subdivided into two anterior and posterior portions, X is part_of the anterior portion. in_proximal_side_of BSPO:0000124 X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. in_proximal_side_of in_proximal_side_of uberon BSPO:PATO_mtg_2009 X proximal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the proximal portion. in_distal_side_of BSPO:0000125 X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. in_distal_side_of in_distal_side_of uberon BSPO:PATO_mtg_2009 X distal_side_of Y <=> if Y is subdivided into distal and proximal portions, X is part_of the distal portion. transitively proximally connected to . transitively_proximally_connected_to uberon . UBERONREF:0000004 in_lateral_side_of BSPO:0000126 X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure http://purl.obolibrary.org/obo/uberon/references/reference_0000014 in_lateral_side_of in_lateral_side_of uberon X in_lateral_side_of Y <=> if X is in_left_side_of Y or X is in_right_side_of Y. X is often, but not always a paired structure https://orcid.org/0000-0002-6601-2165 evolved_from Status: experimental evolved_from uberon enclosed_by enclosed_by uberon distally connected to distally_connected_to uberon x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. UBERONREF:0000004 x distally_connected_to y iff the distal part of x is connected to y. i.e. x connected_to y and x proximal_to y. continuous_with FMA:85972 continuous_with continuous_with sourced from FMA uberon has_muscle_antagonist dbpprop:antagonist has_muscle_antagonist m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. uberon Wikipedia:Antagonist_(muscle) m1 has_muscle_antagonist m2 iff m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. channels_into channels_into uberon has_fused_element A single bone in one species may correspond to the fusion of two or more bones found as distinct elements in another. For example, tibiofibula has_fused_element tibia. A has_fused_element B does not imply that A has_part some B, rather than A has_part some B', where B' is not a subtype of B (because B is a distinct element but B' is a regional part) but has some evolutionary relationship to B. RO:0002374 has_fused_element has_fused_element uberon x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat has_muscle_origin RO:0002372 dbpprop:origin has_muscle_origin has_muscle_origin m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. uberon Wikipedia:Insertion_(anatomy)#Muscles m has_muscle_origin s iff m is attaches_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. has_muscle_insertion RO:0002373 dbpprop:insertion has_muscle_insertion has_muscle_insertion m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. uberon Wikipedia:Insertion_(anatomy) m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. has_end has_end uberon attaches_to FMA:85990 RO:0002371 attaches_to attaches_to uberon proximally connected to proximally_connected_to uberon x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. UBERONREF:0000004 x proximally_connected_to y iff the proximal part of x is connected to y. i.e. x connected_to y and x distal_to y. site_of C site_of P iff exists species S such that P occurs_in C for all members of S. Example: bursa of Fabricius site_of B-cell differentiation. site_of uberon C site_of P iff exists species S such that P occurs_in C for all members of S. Example: bursa of Fabricius site_of B-cell differentiation. GOC:cjm output_of output_of uberon exists_during exists_during uberon evolved_multiple_times_in Status: experimental evolved_multiple_times_in uberon overlaps A overlaps B if they share some part in common. RO:0002131 overlaps overlaps uberon Class imported / merged by efoimporter anteriorly connected to anteriorly_connected_to uberon x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. UBERONREF:0000004 x anteriorly_connected_to y iff the anterior part of x is connected to y. i.e. x connected_to y and x posterior_to y. supplies FMA:86003 arterial supply of relation between an artery and the structure is supplies with blood. source: FMA supplies supplies uberon FMA:86003 arterial supply of finishes RO:0002229 Relation between occurrents, shares an end boundary with. ends finishes finishes uberon Allen:starts Relation between occurrents, shares an end boundary with. ZFS:finishes https://orcid.org/0000-0002-6601-2165 RO:0002229 ends ventral_to BSPO:0000102 uberon ventral_to ventral_to x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). BSPO:cjm x ventral_to y iff x is further along the dorso-ventral axis than y, towards the front. A dorso-ventral axis is an axis that bisects an organism from back (e.g. spinal column) to front (e.g. belly). bearer of BFO BFO:0000053 bearer_of bearer_of develops_from_part_of RO:0002225 develops_from_part_of develops_from_part_of uberon starts RO:0002224 Relation between occurrents, shares a start boundary with. starts starts uberon Allen:starts Relation between occurrents, shares a start boundary with. https://orcid.org/0000-0002-6601-2165 proximal_to BSPO:0000100 proximal_to proximal_to uberon x proximal_to y iff x is closer to the point of attachment with the body than y. BSPO:cjm x proximal_to y iff x is closer to the point of attachment with the body than y. participates in BFO:0000056 participates_in participates_in uberon develops_in RO:0002226 This relation take from EHDAA2 - precise semantics yet to be defined develops_in develops_in uberon intersects_midsagittal_plane_of BSPO:0005001 X intersects_median_plane of iff X crosses the midine plane of Y. intersects_midsagittal_plane_of intersects_midsagittal_plane_of uberon deep_to BSPO:0000107 Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. deep_to deep_to uberon BSPO:cjm Further away from the surface of the organism. Thus, the muscular layer is deep to the skin, but superficial to the intestines. superficial_to BSPO:0000108 Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. superficial_to superficial_to uberon BSPO:cjm Near the outer surface of the organism. Thus, skin is superficial to the muscle layer. existence_starts_or_ends_during existence_starts_or_ends_during uberon innervated_by FMA:85999 dbprop:nerve http://code.google.com/p/obo-relations/issues/detail?id=6 innervated_by nerve supply uberon FMA:85999 nerve supply connects Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. Editors note: this is currently used for both structural relationships (such as between a valve and the chamber it connects) and abstract relationships (anatomical lines and the entities they connect) connects uberon Binary relationship: z connects x if and only if there exists some y such that z connects x and y in a ternary connected_to(x,y,z) relationship. UBERONREF:0000004 adjacent_to RO:0002220 adjacent_to adjacent_to uberon x adjacent_to y iff: x and y share a boundary surrounds RO:0002221 inverse of surrounded_by surrounds surrounds uberon https://orcid.org/0000-0002-6601-2165 inverse of surrounded_by location_of RO:0001015 location_of location_of uberon contains RO:0001019 contains contains uberon preceded_by BFO:0000062 X preceded_by Y iff: end(Y) before_or_simultaneous_with start(X) disjoint_from part_of, but this cannot be expressed in OWL2 is preceded by preceded_by preceded_by takes place after uberon SIO:000249 is preceded by Allen:precedes takes place after surrounded_by RO:0002219 surrounded_by surrounded_by uberon x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y https://orcid.org/0000-0002-6601-2165 x surrounded_by y iff: x is adjacent to y and for every region r adjacent to x, r overlaps y has_function_in RO:0002216 has_function_in has_function_in uberon start_of start_of uberon existence_starts_during BFO:0000068 Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. begins_to_exist_during existence_starts_during existence_starts_during uberon Relation between continuant c and occurrent s, such that every instance of c comes into existing during some s. https://orcid.org/0000-0002-6601-2165 existence_ends_during BFO:0000069 Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. ceases_to_exist_during existence_ends_during existence_ends_during todo - add full axioms to bfo uberon Relation between continuant c and occurrent s, such that every instance of c ceases to exist during some s, if it does not die prematurely. https://orcid.org/0000-0002-6601-2165 existence_starts_after Relation between continuant c and occurrent s, such that every instance of c comes into existing after some s has completed. disjoint_from existence_starts_during (but this cannot be expressed in OWL2) existence_starts_after uberon Relation between continuant c and occurrent s, such that every instance of c comes into existing after some s has completed. https://orcid.org/0000-0002-6601-2165