Gaucher'S Disease Type I
Disease ID: disease_node_20496
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E75.2, MIM:230800, ORDO:77259 |
|---|---|
| Subclassof | DOID_1926 |
| Data Source | DOID |
| Synonyms | Acid Beta-Glucosidase Deficiency, GD I, GD1, Gaucher Disease, Noncerebral Juvenile, Gba Deficiency, Glucocerebrosidase Deficiency |
| Doid Label | Gaucher's disease type I |
| Doid Description | A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
| Disease Node Id | disease_node_20496 |
| Doid Id | DOID_0110957 |
| Disease Has Basis In | SO_0001537 |
| Label | Gaucher'S Disease Type I |
- Outgoing r'ship
SUBCLASS_OFto/from Gaucher Disease(ID:disease_node_3415) (Disease)