Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:0112250 - Gaucher's disease type IIIC

Disease Ontology 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.

Synonyms: cardiovascular Gaucher disease, Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type 3C, Gaucher-like disease, GD3C

Xenbase Genes : gba1


MIM:
MIM:231005 - GAUCHER DISEASE, TYPE IIIC; GD3C

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): Gaucher's disease type III (is_a)