Disease Term Disease ID Gene Symbol References
GELEOPHYSIC DYSPLASIA 2 C3280054 FBN1 21683322, 20082464, 26380986, 7762551
Geleophysic dysplasia C3489726, 2623 FBN1 27245183, 21683322
LTBP3 27068007
SMAD2 18677313
TGFB1 18677313
ADAMTSL2 18677313
GELEOPHYSIC DYSPLASIA 3 C4540511 LTBP3 27068007
GELEOPHYSIC DYSPLASIA 1 C3278147 ADAMTSL2 21415077, 18677313