Homocystinuria
Disease ID: disease_node_4020
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:10770, ICD10CM:E72.11, MESH:D006712, MIM:236200, MIM:236250, NCI:C84765, ORDO:394, SNOMEDCT_US_2023_03_01:190709008, UMLS_CUI:C0019880 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID, MESH |
| Synonyms | CBS deficiency, cystathionine beta synthase deficiency, cystathionine synthase deficiency |
| Mesh Id | D006712 |
| Mesh Label | Homocystinuria |
| Mesh Subclassof | D003240, D020739, D020138 |
| Doid Label | homocystinuria |
| Doid Description | An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. Xref MGI. |
| Has Phenotype | HP_0003355 |
| Disease Node Id | disease_node_4020 |
| Doid Id | DOID_9263 |
| Label | Homocystinuria |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)