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loading...| Preferred Name |
inborn urea cycle disorder |
|
| Synonyms |
N acetyl glutamate synthetase deficiency |
|
| Definitions |
inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/1849-9321 |
|
| altLabel |
N acetyl glutamate synthetase deficiency |
|
| cui |
C0154246 C0268543 |
|
| definition |
inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations. |
|
| DID |
1849-9321 |
|
| Inverse of RB | ||
| Inverse of RN |
http://purl.bioontology.org/ontology/CSP/1849-9435 http://purl.bioontology.org/ontology/CSP/1849-9378 http://purl.bioontology.org/ontology/CSP/1849-9548 |
|
| notation |
1849-9321 |
|
| prefLabel |
inborn urea cycle disorder |
|
| tui |
T047 |
|
| subClassOf |
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