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loading...| Preferred Name |
carbamoyl phosphate synthetase deficiency |
|
| Synonyms |
carbamyl 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. |
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| ID |
http://purl.bioontology.org/ontology/CSP/1849-9548 |
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| altLabel |
carbamyl phosphate synthetase deficiency congenital hyperammonemia type I CAPS deficiency |
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| cui |
C0751753 |
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| 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. |
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| DID |
1849-9548 |
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| Inverse of RB | ||
| notation |
1849-9548 |
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| prefLabel |
carbamoyl phosphate synthetase deficiency |
|
| tui |
T047 |
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| subClassOf |
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