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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/4001-0114
http://purl.bioontology.org/ontology/CSP/4001-0114
|
|---|---|
| Preferred Name | Rett syndrome |
| Definitions |
progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia.
|
| Synonyms |
cerebroatrophic hyperammonemia
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | progressive disorder affecting the cerebral cortex of females; present from birth; manifested by autistic behavior, ataxia, dementia, seizures, loss of purposeful usefulness of the hands, cerebral atrophy, and mild hyperammonemia. |
|---|---|
| altLabel | cerebroatrophic hyperammonemia
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| prefLabel | Rett syndrome
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| type | |
| tui | T047
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| notation | 4001-0114
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| Semantic type UMLS property | |
| DID | 4001-0114
|
| cui | C0035372
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |