Term Name: | Gaucher's disease type II |
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Synonyms: | Gaucher Disease, Acute Neuronopathic Type, GD II, GD2, Infantile Cerebral Gaucher Disease |
Definition: | 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. |
Ontology: | Human Disease [DOID:0110958] ( DOID:0110958 ) |