Term Name: | Gaucher's disease type IIIC |
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Synonyms: | cardiovascular Gaucher disease, Gaucher disease type 3C, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher-like disease, GD3C |
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. |
Ontology: | Human Disease [DOID:0112250] ( DOID:0112250 ) |