Gaucher's disease type III

Summary

DOID:0110959 - Gaucher's disease type III

Disease Ontology 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.

Synonyms: Gaucher Disease, Chronic Neuronopathic Type, Gaucher Disease, Juvenile And Adult, Cerebral, Gaucher Disease, Subacute Neuronopathic Type, GD III

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gba1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009267 - Gaucher disease type III

MONDO:0009267 - Gaucher disease type III

MIM:

MIM:231000 - GAUCHER DISEASE, TYPE III; GD3

MIM:231000 - GAUCHER DISEASE, TYPE III; GD3

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), Gaucher's disease (is_a), genetic disease (is_a)