Ornithine Carbamoyltransferase Deficiency Disease
Disease ID: disease_node_10144
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| Dbxref | GARD:8391, ICD10CM:E72.4, MESH:D020163, MIM:311250, NCI:C84957, SNOMEDCT_US_2023_03_01:80908008, UMLS_CUI:C0268542 |
|---|---|
| Subclassof | DOID_9267 |
| Data Source | DOID, MESH |
| Synonyms | deficiency of citrulline phosphorylase, ornithine transcarbamylase deficiency |
| Mesh Id | D020163 |
| Mesh Label | Ornithine Carbamoyltransferase Deficiency Disease |
| Mesh Subclassof | D040181, D056806 |
| Doid Label | ornithine carbamoyltransferase deficiency |
| Doid Description | An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_10144 |
| Doid Id | DOID_9271 |
| Label | Ornithine Carbamoyltransferase Deficiency Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Urea Cycle Disorders, Inborn(ID:disease_node_12308) (Disease)