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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-9435
http://purl.bioontology.org/ontology/CSP/1849-9435
|
|---|---|
| Preferred Name | arginosuccinate lyase deficiency |
| Definitions |
autosomal recessive aminoacidopathy characterized by urinary excretion of argininosuccinic acid, due to a deficiency of argininosuccinate lyase, with hyperammonemia, argininosuccinicacidemia, and citrullinemia; clinical findings include mental retardation, seizures, ataxia, hepatomegaly, and friable hair.
|
| Synonyms |
argininosuccinicaciduria
arginosuccinic aciduria
arginosuccinase deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive aminoacidopathy characterized by urinary excretion of argininosuccinic acid, due to a deficiency of argininosuccinate lyase, with hyperammonemia, argininosuccinicacidemia, and citrullinemia; clinical findings include mental retardation, seizures, ataxia, hepatomegaly, and friable hair. |
|---|---|
| altLabel |
argininosuccinicaciduria
arginosuccinic aciduria
arginosuccinase deficiency
|
| prefLabel | arginosuccinate lyase deficiency
|
| Inverse of RO | |
| type | |
| tui |
T046
T047
|
| notation | 1849-9435
|
| Semantic type UMLS property | |
| DID | 1849-9435
|
| cui |
C0596122
C0268547
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |