Gaucher'S Disease Type Ii
Disease ID: disease_node_20495
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| Dbxref | ICD10CM:E75.2, MIM:230900, ORDO:77260 |
|---|---|
| Subclassof | DOID_1926 |
| Data Source | DOID |
| Synonyms | GD II, GD2, Gaucher Disease, Acute Neuronopathic Type, Infantile Cerebral Gaucher Disease |
| Doid Label | Gaucher's disease type II |
| Doid Description | A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
| Disease Node Id | disease_node_20495 |
| Doid Id | DOID_0110958 |
| Disease Has Basis In | SO_0001537 |
| Label | Gaucher'S Disease Type Ii |
- Outgoing r'ship
SUBCLASS_OFto/from Gaucher Disease(ID:disease_node_3415) (Disease)