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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

In OMIM:
OMIM:230800 - GAUCHER DISEASE, TYPE I; GD1

In Mondo Disease Ontology:
MONDO:0009265 - Gaucher disease type I

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gba

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): Gaucher's disease (is_a), genetic disease (is_a)