Gaucher disease

Synonym(s)
- Glucocerebrosidase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GBA1 / Glucosylceramidase Beta 1
  1q22
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Beta-glucocerebrosidase
Disease group(s)
- 20.1 Disorders of sphingolipid degradation
Child entries