Disease Term Disease ID Gene Symbol Classification References Source
ANEMIA, HYPOPLASTIC, CONGENITAL CAD Unknown CTD
UMPS Unknown CTD
CONGENITAL HEART DISEASE DNAH9 Causal Disgenet
DCHS1 Unknown ClinGen Disgenet
CONGENITAL HEMIVERTEBRA PKD1 Unknown Disgenet
CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY OF CORNEA SLC4A11 Causal ClinVar GWAS catalog