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Gaucher disease type 3

^ http://www.orpha.net/ORDO/Orphanet_77261


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

Synonyms: Cerebral juvenile and adult form of Gaucher disease, Chronic neuronopathic Gaucher disease, Gaucher disease, subacute neuronopathic type