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Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
Uniprot Description A variant of subacute neuronopathic Gaucher disease 3 associated with cardiovascular calcifications.
Mondo Term and Equivalent IDs
MONDO:0009268:  Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
GARD:0002445: 
GARD:0012504: 
MESH:C565553: 
Orphanet:2072: 
UMLS:C1856476: 
UMLS:C2931585: