loading...| Preferred Name |
fragile X syndrome |
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| Synonyms |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. An X-linked disease 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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| ID |
http://purl.obolibrary.org/obo/DOID_14261 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
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| definition |
An X-linked disease 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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| hasDbXref |
ICD9CM:759.83 MESH:D005600 UMLS_CUI:C0016667 OMIM:300624 NCI:C84717 ICD10CM:Q99.2 SNOMEDCT_US_2016_03_01:613003 SNOMEDCT_US_2016_03_01:390007001 |
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| hasExactSynonym |
MARTIN-BELL SYNDROME FRAGILE X MENTAL RETARDATION SYNDROME MARKER X SYNDROME |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:14261 |
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| imported from | ||
| inSubset | ||
| label |
fragile X syndrome |
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| prefixIRI |
DOID:14261 |
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| prefLabel |
fragile X syndrome |
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| subClassOf |
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