Carbamoyl-Phosphate Synthase I Deficiency Disease
Disease ID: disease_node_10151
Connections displayed (default: 10).
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| Dbxref | GARD:7269, MESH:D020165, MIM:237300, NCI:C84612, SNOMEDCT_US_2023_03_01:765329008, UMLS_CUI:C0751753 |
|---|---|
| Subclassof | DOID_9267, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | CPS I deficiency |
| Mesh Id | D020165 |
| Mesh Label | Carbamoyl-Phosphate Synthase I Deficiency Disease |
| Mesh Subclassof | D028361, D056806 |
| Doid Label | carbamoyl phosphate synthetase I deficiency disease |
| Doid Description | A urea cycle disorder that involves accumulation of ammonia in the blood. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | CHEBI_16134, GENO_0000148 |
| Disease Node Id | disease_node_10151 |
| Doid Id | DOID_9280 |
| Label | Carbamoyl-Phosphate Synthase I Deficiency Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Urea Cycle Disorders, Inborn(ID:disease_node_12308) (Disease)