Acrofacial dysostosis

Disease Term Disease ID Gene Symbol Classification References Source
ACROFACIAL DYSOSTOSIS CINCINNATI TYPE
MONDO:0014651
POLR1A Causal
25913037
Disgenet
ACROFACIAL DYSOSTOSIS RODRIGUEZ TYPE
MONDO:0008714
SF3B4 Unknown
27642715
HPO
ACROFACIAL DYSOSTOSIS, WEYERS TYPE
MONDO:0008673
EVC Unknown
21815252 12468274 14217223 7628126 7218275 10700184 12571802
CTD
EVC2 Unknown
16404586
GWAS catalog