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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1254-8431
http://purl.bioontology.org/ontology/CSP/1254-8431
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|---|---|
| Preferred Name | fragile X syndrome |
| Definitions |
X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | X-linked recessive disorder characterized by mental retardation and large head, jaw, ears, and testes; premutation alleles in unaffected carriers give rise to significantly amplified repeats in affected progeny. |
|---|---|
| prefLabel | fragile X syndrome
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1254-8431
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| Semantic type UMLS property | |
| DID | 1254-8431
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| cui | C0016667
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |