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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/5005-0002
http://purl.bioontology.org/ontology/CSP/5005-0002
|
|---|---|
| Preferred Name | Alagille syndrome |
| Definitions |
autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis.
|
| Synonyms |
Alagille-Watson syndrome
arteriohepatic dysplasia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal dominant mutation involving chromosome 20; characterized by the almost normal liver that has few or no intrahepatic bile ducts; other extrahepatic malformations include those in the heart, the eyes, the vertebral column, and the facies; major clinical features include jaundice, and congenital heart disease with peripheral pulmonary stenosis. |
|---|---|
| altLabel |
Alagille-Watson syndrome
arteriohepatic dysplasia
|
| prefLabel | Alagille syndrome
|
| Inverse of RO | |
| type | |
| tui | T019
|
| notation | 5005-0002
|
| Semantic type UMLS property | |
| DID | 5005-0002
|
| cui | C0085280
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |