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Maffucci syndrome

Disease Summary
Associated Targets (3)
Tclin

2

Tchem

1


Explore Associated Targets
Mondo Description Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.
Disease Ontology Description A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
Mondo Term and Equivalent IDs
MONDO:0013808:  Maffucci syndrome
GARD:0006958: 
NCIT:C3213: 
Orphanet:163634: 
SCTID:46041001: 
UMLS:C0024454: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)