Search Ontology:
Human Disease
carbamoyl phosphate synthetase I deficiency disease
- Term ID
- DOID:9280
- Synonyms
-
- CPS I deficiency
- Definition
- A urea cycle disorder that involves accumulation of ammonia in the blood. http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency
- References
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- GARD:7269
- MESH:D020165
- MIM:237300
- NCI:C84612
- SNOMEDCT_US_2023_03_01:765329008
- UMLS_CUI:C0751753
- Ontology
- Human Disease ( DOID:9280 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models