Term Name: Gaucher's disease type IIIC
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 )

Relationships
is a type of: Gaucher's disease type III