Atypical Gaucher'S Disease Due To Saposin C Deficiency
Disease ID: disease_node_20491
Connections displayed (default: 10).
Loading graph...
| Dbxref | ICD10CM:E75.2, MIM:610539, ORDO:309252 |
|---|---|
| Subclassof | DOID_1926 |
| Data Source | DOID |
| Doid Label | atypical Gaucher's disease due to saposin c deficiency |
| Doid Description | A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. |
| Disease Node Id | disease_node_20491 |
| Doid Id | DOID_0110961 |
| Disease Has Basis In | SO_0001537 |
| Label | Atypical Gaucher'S Disease Due To Saposin C Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Gaucher Disease(ID:disease_node_3415) (Disease)