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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,
Echinobase Genes :
MIM: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)