loading...| 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 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
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| database_cross_reference |
OMIM:300624 ICD10CM:Q99.2 MESH:D005600 UMLS_CUI:C0016667 ICD9CM:759.83 SNOMEDCT_US_2020_03_01:390007001 GARD:6464 NCI:C84717 ORDO:908 |
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| has exact synonym |
MARKER X SYNDROME MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME |
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| has_obo_namespace |
disease_ontology |
|
| id |
DOID:14261 |
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| imported from | ||
| in_subset |
http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim |
|
| label |
fragile X syndrome |
|
| notation |
DOID:14261 |
|
| prefLabel |
fragile X syndrome |
|
| textual 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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| subClassOf |