has material basis in germline mutation in GBA1 Gaucher disease type I https://www.malacards.org/card/gaucher_disease_type_i Gba deficiency NANDO:1200057 NANDO:2201210 SCTID:62201009 DOID:0110957 Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia. OMIM:230800 acid Beta-glucosidase deficiency UMLS:C1961835 Gaucher disease type I GARD:0002441 Orphanet:77259 MONDO:0009265 non-cerebral juvenile Gaucher disease Gaucher disease, noncerebral juvenile MEDGEN:409531 Gaucher's disease type I familial restrictive cardiomyopathy Gaucher disease secondary avascular necrosis osteonecrosis of genetic origin cerebral lipidosis with dementia