Ornithine Translocase Deficiency
Disease ID: disease_node_20550
Connections displayed (default: 10).
Loading graph...
| Dbxref | GARD:2830, MIM:238970 |
|---|---|
| Subclassof | DOID_9252 |
| Data Source | DOID |
| Synonyms | HHH syndrome, Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome |
| Doid Label | ornithine translocase deficiency |
| Doid Description | An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. |
| Has Material Basis In | CHEBI_16134 |
| Disease Node Id | disease_node_20550 |
| Doid Id | DOID_0050720 |
| Label | Ornithine Translocase Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)