Disease: Congenital Camptodactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly 		0.010 GeneticVariation disease BEFREE Both probands had granulomatous disease and autosomal dominant phenotype of familial camptodactyly coupled with the presence of the NOD2 sequence variants, IVS8(+158), and R703C. 26164256 2015