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Metadata
ID DOID:0110958
Name Gaucher's disease type II
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.
https://www.ncbi.nlm.nih.gov/pubmed/10649495, https://www.ncbi.nlm.nih.gov/pubmed/2880291
Xrefs

ICD10CM:E75.2

MIM:230900

ORDO:77260

Subsets

DO_rare_slim

Synonyms

Gaucher Disease, Acute Neuronopathic Type [EXACT]

GD II [EXACT]

GD2 [EXACT]

Infantile Cerebral Gaucher Disease [EXACT]

Parent Relationships

is_a Gaucher's disease

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