|
OMIM |
Link |
Information
gain |
01 |
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.00178185
|
|
|
|
otoonychoperoneal syndrome
|
[NCBI]
|
0.00112909
|
|
|
|
clubbing of digits
|
[NCBI]
|
0.00112909
|
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.00112909
|
|
|
|
mesomelic dysplasia, kantaputra type
|
[NCBI]
|
0.00101206
|
|
|
|
spondylometaphyseal dysplasia, sedaghatian type
|
[NCBI]
|
0.00101206
|
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
0.000868552
|
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
0.000868552
|
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000835024
|
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
0.000755204
|
|
|
|
POADS
|
[NCBI]
|
0.000738236
|
|
|
|
OSCS
|
[NCBI]
|
0.000671414
|
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
0.000565747
|
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000481375
|
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
0.000470477
|
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
0.000470477
|
|
|
|
caffey disease
|
[NCBI]
|
0.000448022
|
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
0.000448022
|
|
|
|
craniosynostosis with fibular aplasia
|
[NCBI]
|
0.000376731
|
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
0.000376731
|
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
0.000268671
|
|
|
|
AOII
|
[NCBI]
|
0.000268671
|
|
|
|
FFS
|
[NCBI]
|
0.000223906
|
|
|
|
OPD2
|
[NCBI]
|
0.00021449
|
|
|
|
spondyloepimetaphyseal dysplasia, shohat type
|
[NCBI]
|
0.000188151
|
|
|
|
mesomelic dysplasia, savarirayan type
|
[NCBI]
|
0.000188151
|
|
|
|
fibuloulnar aplasia or hypoplasia with renal abnormalities
|
[NCBI]
|
0.000188151
|
|
|
|
ulna and fibula, hypoplasia of
|
[NCBI]
|
0.000188151
|
|
|
|
LWD
|
[NCBI]
|
0.000167674
|
|
|
|
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
[NCBI]
|
0.000148911
|
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
0.000148911
|
|
|
|
osteofibrous dysplasia
|
[NCBI]
|
0.000148911
|
|
|
|
tibia, absence of, with polydactyly
|
[NCBI]
|
0.000148911
|
|
|
|
AOIII
|
[NCBI]
|
0.000134122
|
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
0.000111742
|
|
|
|
OSMED
|
[NCBI]
|
0.000111742
|
|
|
|
SPMM
|
[NCBI]
|
0.000107034
|
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
9.94954e-05
|
|
|
|
AOI
|
[NCBI]
|
9.94954e-05
|
|
|
|
acheiropody
|
[NCBI]
|
9.35764e-05
|
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
9.35764e-05
|
|
|
|
SLE
|
[NCBI]
|
9.28259e-05
|
|
|
|
KAL2
|
[NCBI]
|
9.10339e-05
|
|
|
|
FMD
|
[NCBI]
|
8.6562e-05
|
|
|
|
camurati-engelmann disease
|
[NCBI]
|
8.45733e-05
|
|
|
|
COL1A1
|
[NCBI]
|
8.13279e-05
|
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
8.09846e-05
|
|
|
|
PLOSL
|
[NCBI]
|
7.93538e-05
|
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
7.63606e-05
|
|
|
|
HCH
|
[NCBI]
|
7.63606e-05
|
|
|
|
MNS
|
[NCBI]
|
7.63606e-05
|
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
7.24157e-05
|
|
|
|
PHS
|
[NCBI]
|
6.49975e-05
|
|
|
|
FOP
|
[NCBI]
|
6.0745e-05
|
|
|
|
campomelic dysplasia
|
[NCBI]
|
5.77838e-05
|
|
|
|
CRMO
|
[NCBI]
|
5.70941e-05
|
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
5.10336e-05
|
|
|
|
PSACH
|
[NCBI]
|
4.95109e-05
|
|
|
|
AHO
|
[NCBI]
|
4.95109e-05
|
|
|
|
WNT7A
|
[NCBI]
|
4.90994e-05
|
|
|
|
mucolipidosis ii
|
[NCBI]
|
4.80468e-05
|
|
|
|
IL6ST
|
[NCBI]
|
4.57668e-05
|
|
|
|
FGF9
|
[NCBI]
|
4.38985e-05
|
|
|
|
GDF5
|
[NCBI]
|
3.96693e-05
|
|
|
|
SOX9
|
[NCBI]
|
3.82263e-05
|
|
|
|
phenylketonuria
|
[NCBI]
|
3.47446e-05
|
|
|
|
NRG1
|
[NCBI]
|
3.21674e-05
|
|
|
|
CDK2
|
[NCBI]
|
2.54001e-05
|
|
|
|
PTH
|
[NCBI]
|
6.39892e-06
|
|
