Disease: Deformity of limb ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		0.010 GeneticVariation group BEFREE Autosomal mutations in the CL-K1 or MASP-3 genes cause a developmental disorder called 3MC (Carnevale, Mingarelli, Malpuech and Michels) syndrome, characterised by facial, genital, renal and limb abnormalities. 25912189 2015