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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-9548
http://purl.bioontology.org/ontology/CSP/1849-9548
|
|---|---|
| Preferred Name | carbamoyl phosphate synthetase deficiency |
| Definitions |
genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without orotic aciduria, protein intolerance, and neurologic disorders.
|
| Synonyms |
carbamyl phosphate synthetase deficiency
congenital hyperammonemia type I
CAPS deficiency
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | genetic aminoacidopathy due to a deficiency of carbamoyl phosphate synthase (ammonia); characteristic symptoms include pronounced hyperammonemia without orotic aciduria, protein intolerance, and neurologic disorders. |
|---|---|
| altLabel |
carbamyl phosphate synthetase deficiency
congenital hyperammonemia type I
CAPS deficiency
|
| prefLabel | carbamoyl phosphate synthetase deficiency
|
| type | |
| tui | T047
|
| notation | 1849-9548
|
| Semantic type UMLS property | |
| DID | 1849-9548
|
| cui | C0751753
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| Inverse of RB | |
| subClassOf |
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