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Gaucher'S Disease Type Iii

Disease ID: disease_node_20493

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DbxrefICD10CM:E75.2, MIM:231000, ORDO:77261
SubclassofDOID_0050737, DOID_1926
Data SourceDOID
SynonymsGD III, Gaucher Disease, Chronic Neuronopathic Type, Gaucher Disease, Juvenile And Adult, Cerebral, Gaucher Disease, Subacute Neuronopathic Type
Doid LabelGaucher's disease type III
Doid DescriptionA 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.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_20493
Doid IdDOID_0110959
LabelGaucher'S Disease Type Iii