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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | fragile X syndrome | |
| Synonyms |
MARKER X SYNDROME MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME |
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| Definitions |
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_14261 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
ICD10CM:Q99.2 MESH:D005600 UMLS_CUI:C0016667 ICD9CM:759.83 SNOMEDCT_US_2023_03_01:390007001 GARD:6464 MIM:300624 NCI:C84717 ORDO:908
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|
| definition |
A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function.
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| has exact synonym |
MARKER X SYNDROME MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME
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| has material basis in | ||
| has_obo_namespace |
disease_ontology
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| id |
DOID:14261
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| in_subset |
http://purl.obolibrary.org/obo/doid#NCIthesaurus |
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| label |
fragile X syndrome
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|
| notation |
DOID:14261
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| prefLabel |
fragile X syndrome
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| subClassOf |
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