Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020608
Disease: Hypodontia
Hypodontia
0.010 GeneticVariation disease BEFREE Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. 28298625 2017