" /> Gaucher disease, type iiic - CISMeF





Preferred Label : Gaucher disease, type iiic;

Symbol : GD3C;

CISMeF acronym : GD3C;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the acid beta-glucosidase gene (GBA, 606463.0006);

Laboratory abnormalities : Decreased beta-glucosidase protein and activity;

Prefixed ID : #231005;

Details


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03/05/2025


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