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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-9492
http://purl.bioontology.org/ontology/CSP/1849-9492
|
|---|---|
| Preferred Name | arginosuccinate synthetase deficiency |
| Definitions |
autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; clinical findings include mental retardation and neurologic abnormalities.
|
| Synonyms |
ASS deficiency
citrullinemia
citrullinuria
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive aminoacidopathy characterized by marked elevation in plasma and urine levels of citrulline, with hyperammonemia and sometimes secondary oroticaciduria; clinical findings include mental retardation and neurologic abnormalities. |
|---|---|
| altLabel |
ASS deficiency
citrullinemia
citrullinuria
|
| prefLabel | arginosuccinate synthetase deficiency
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1849-9492
|
| Semantic type UMLS property | |
| DID | 1849-9492
|
| cui | C0175683
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |