| Metadata | |
|---|---|
| ID | DOID:9280 |
| Name | carbamoyl phosphate synthetase I deficiency disease |
| Definition | A urea cycle disorder that involves accumulation of ammonia in the blood. http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency |
| Xrefs |
SNOMEDCT_US_2023_03_01:765329008 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
CPS I deficiency [EXACT] |
| Parent Relationships |
is_a urea cycle disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has material basis in some ammonia |