Contractures, pterygia, and spondylocarpotarsal fusion syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A
178110MONDO:0008338
MYH3 Causal
25957469
ClinVar GWAS catalog HPO
CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B
618469C5193114
MYH3 Unknown — Disgenet HPO