Gaucher'S Disease Type Iiic
Disease ID: disease_node_20494
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:231005, ORDO:2072 |
|---|---|
| Subclassof | DOID_0110959 |
| Data Source | DOID |
| Synonyms | GD3C, Gaucher disease type 3C, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher-like disease, cardiovascular Gaucher disease |
| Doid Label | Gaucher's disease type IIIC |
| Doid Description | A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20494 |
| Doid Id | DOID_0112250 |
| Label | Gaucher'S Disease Type Iiic |
- Outgoing r'ship
SUBCLASS_OFto/from Gaucher'S Disease Type Iii(ID:disease_node_20493) (Disease)