Citrullinemia
Disease ID: disease_node_10132
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E72.23, MESH:D020159, NCI:C84639, ORDO:187, SNOMEDCT_US_2023_03_01:15489004, UMLS_CUI:C0175683 |
|---|---|
| Subclassof | DOID_9267 |
| Data Source | DOID, MESH |
| Synonyms | ASS deficiency, deficiency of citrulline-aspartate ligase |
| Mesh Id | D020159 |
| Mesh Label | Citrullinemia |
| Mesh Subclassof | D056806 |
| Doid Label | citrullinemia |
| Doid Description | An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| Disease Node Id | disease_node_10132 |
| Doid Id | DOID_9273 |
| Label | Citrullinemia |
- Incoming r'ship
SUBCLASS_OFto/from Neonatal-Onset Type Ii Citrullinemia(ID:disease_node_13243) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Urea Cycle Disorders, Inborn(ID:disease_node_12308) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Classic Citrullinemia(ID:disease_node_13244) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Adult-Onset Type Ii Citrullinemia(ID:disease_node_13242) (Disease)