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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-0399
http://purl.bioontology.org/ontology/CSP/1849-0399
|
|---|---|
| Preferred Name | albinism |
| Definitions |
general term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
|
| Synonyms |
Hermansky Pudlak syndrome
HPS (Hermansky Pudlak syndrome)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | general term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. |
|---|---|
| altLabel |
Hermansky Pudlak syndrome
HPS (Hermansky Pudlak syndrome)
|
| prefLabel | albinism
|
| type | |
| tui | T047
|
| notation | 1849-0399
|
| Semantic type UMLS property | |
| DID | 1849-0399
|
| cui |
C0079504
C0001916
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |