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Summary Literature (0)
DOID:0110957 - Gaucher's disease type I

Disease Ontology Definition:A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_in a mutation of GBA on chromosome 1q22.

Synonyms: Acid Beta-Glucosidase Deficiency, GD I, Gaucher Disease, Noncerebral Juvenile, Gba Deficiency, Glucocerebrosidase Deficiency

Echinobase Genes :

OMIM:230800 - gaucher disease, type i

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Gaucher's disease (is_a)