Gaucher's disease type I

Summary

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_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.

Synonyms: Acid Beta-Glucosidase Deficiency, GD I, GD1, Gaucher Disease, Noncerebral Juvenile, Gba Deficiency, Glucocerebrosidase Deficiency,

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:0009265 - Gaucher disease type I

MONDO:0009265 - 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), genetic disease (is_a)