Disease Term Disease ID Gene Symbol References
Klippel Feil syndrome recessive type C1859209 MEOX1 24073994
RIPPLY2 26238661, 25343988
Klippel-Feil Syndrome C0022738 MEOX1 23290072
KMT2A
MYH3
TBX2
GDF3 19864492
DKK1
MYO18B
GDF6 18425797
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT C1861689 MEOX1
GDF6 19129173, 18425797, 17236135, 3065353, 23307924
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT C3150967 GDF3 19864492