Gaucher's disease type II (DOID:0110958)
Alliance: disease page
Synonyms: Gaucher Disease, Acute Neuronopathic Type; GD2; GD II; Infantile Cerebral Gaucher Disease
Alt IDs: OMIM:230900, ICD10CM:E75.2, ORDO:77260
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.