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Gaucher disease type I
rareGaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD) characterized by organomegaly, bone involvement and cytopenia.
- Identifiers
- MONDO:0009265 OMIM:230800Orphanet:77259
- Causal genes
- GBA1
- Part of
- Gaucher diseaseCerebral lipidosis with dementiaFamilial restrictive cardiomyopathyOsteonecrosis of genetic originSecondary avascular necrosis
- Also known as
- Gaucher disease, noncerebral juvenile · Gaucher's disease type I · non-cerebral juvenile Gaucher disease
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