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Gaucher disease type III
rareGaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
- Identifiers
- MONDO:0009267 OMIM:231000Orphanet:77261
- Causal genes
- GBA1
- Part of
- Gaucher disease
- Also known as
- cerebral juvenile and adult form of Gaucher disease · chronic neuronopathic Gaucher disease · Gaucher disease, chronic neuronopathic type · Gaucher disease, juvenile and adult, cerebral · Gaucher disease, Subacute neuronopathic type
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