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)