Gaucher's disease type IIIC (DOID:0112250)
Alliance: disease page
Synonyms: cardiovascular Gaucher disease; Gaucher disease type 3C; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher-like disease; GD3C
Alt IDs: OMIM:231005, ORDO:2072
Definition: A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22.