Brachyolmia

Disease Term Disease ID Gene Symbol References
Brachyolmia C0432228 LTBP3 25669657
PAPSS2
Brachyolmia Type 3 C0432227 TRPV4 20037588, 18587396
Autosomal recessive brachyolmia 448242 PAPSS2
Autosomal dominant brachyolmia 93304 TRPV4