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cherubism

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.
Uniprot Description An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.
Mondo Term and Equivalent IDs
MONDO:0007315:  cherubism
GARD:0006036: 
MESH:D002636: 
NCIT:C84630: 
OMIM:118400: CHERUBISM
Orphanet:184: 
SCTID:76098004: 
UMLS:C0008029: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)