Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital ocular coloboma (disorder)
0.010 GeneticVariation disease BEFREE Some of the features in this family overlap the CHIME (Coloboma of the eye, Heart defect, Ichthyosiform dermatosis, Mental retardation, and Ear defect) syndrome. 18271001 2008