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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-5365
http://purl.bioontology.org/ontology/CSP/1849-5365
|
|---|---|
| Preferred Name | Menkes' syndrome |
| Definitions |
X-linked recessive abnormality in copper absorption marked by severe cerebral degeneration and arterial changes resulting in death in infancy and by sparse, brittle scalp hair.
|
| Synonyms |
steely hair syndrome
kinky hair syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | X-linked recessive abnormality in copper absorption marked by severe cerebral degeneration and arterial changes resulting in death in infancy and by sparse, brittle scalp hair. |
|---|---|
| altLabel |
steely hair syndrome
kinky hair syndrome
|
| prefLabel | Menkes' syndrome
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-5365
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| Semantic type UMLS property | |
| DID | 1849-5365
|
| cui | C0022716
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |