Gaucher's disease type I (DOID:0110957)
Alliance: disease page
Synonyms: Acid Beta-Glucosidase Deficiency; Gaucher Disease, Noncerebral Juvenile; Gba Deficiency; GD1; GD I; Glucocerebrosidase Deficiency
Alt IDs: OMIM:230800, ICD10CM:E75.2, ORDO:77259
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.