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Metadata
ID DOID:0110959
Name Gaucher's disease type III
Definition A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
https://www.ncbi.nlm.nih.gov/pubmed/2378352, https://www.ncbi.nlm.nih.gov/pubmed/8413956
Xrefs

ICD10CM:E75.2

OMIM:231000

ORDO:77261

Subsets

DO_rare_slim

Synonyms

Gaucher Disease, Chronic Neuronopathic Type [EXACT]

Gaucher Disease, Juvenile And Adult, Cerebral [EXACT]

Gaucher Disease, Subacute Neuronopathic Type [EXACT]

GD III [EXACT]

Parent Relationships

is_a Gaucher's disease

is_a autosomal recessive disease

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