Cardiofacial dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
CARDIOACROFACIAL DYSPLASIA 1
619142C5436885MONDO:0030876
PRKACA Causal
33058759
ClinVar Disgenet GenCC HPO
CARDIOACROFACIAL DYSPLASIA 2
619143C5436886MONDO:0030877
PRKACB Causal
33058759
ClinVar Disgenet GWAS catalog HPO