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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-9321
http://purl.bioontology.org/ontology/CSP/1849-9321
|
|---|---|
| Preferred Name | inborn urea cycle disorder |
| Definitions |
inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations.
|
| Synonyms |
N acetyl glutamate synthetase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations. |
|---|---|
| altLabel | N acetyl glutamate synthetase deficiency
|
| prefLabel | inborn urea cycle disorder
|
| type | |
| tui | T047
|
| Inverse of RN | |
| notation | 1849-9321
|
| Semantic type UMLS property | |
| DID | 1849-9321
|
| cui |
C0154246
C0268543
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |