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 |