Urea Cycle Disorders, Inborn
Disease ID: disease_node_12308
Connections displayed (default: 10).
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| Dbxref | GARD:7837, ICD10CM:E72.2, ICD9CM:270.6, MESH:D056806, NCI:C84785, SNOMEDCT_US_2023_03_01:36444000, UMLS_CUI:C0154246 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID, MESH |
| Synonyms | disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia, disorder of urea cycle metabolism, urea cycle defect |
| Mesh Id | D056806 |
| Mesh Label | Urea Cycle Disorders, Inborn |
| Mesh Subclassof | D020739, D000592 |
| Doid Label | urea cycle disorder |
| Doid Description | An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. |
| Disease Node Id | disease_node_12308 |
| Doid Id | DOID_9267 |
| Label | Urea Cycle Disorders, Inborn |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Ornithine Carbamoyltransferase Deficiency Disease(ID:disease_node_10144) (Disease) - Incoming r'ship
SUBCLASS_OFto/from N-Acetylglutamate Synthase Deficiency(ID:disease_node_20554) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Hyperargininemia(ID:disease_node_10138) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Citrullinemia(ID:disease_node_10132) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Carbamoyl-Phosphate Synthase I Deficiency Disease(ID:disease_node_10151) (Disease)