|
OMIM |
Link |
Information gain |
01 |
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.00694351
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.00438881
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.00216724
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.00186353
|
|
|
FFS
|
[NCBI]
|
0.00170354
|
|
|
pyle disease
|
[NCBI]
|
0.00167125
|
|
|
omodysplasia
|
[NCBI]
|
0.00167125
|
|
|
PTH
|
[NCBI]
|
0.00163917
|
|
|
upington disease
|
[NCBI]
|
0.00114243
|
|
|
metaphyseal dysplasia, braun-tinschert type
|
[NCBI]
|
0.00114243
|
|
|
pseudohermaphroditism, female, with skeletal anomalies
|
[NCBI]
|
0.00114243
|
|
|
bone size quantitative trait locus 2
|
[NCBI]
|
0.00114243
|
|
|
SHFLD1
|
[NCBI]
|
0.00113253
|
|
|
GHDD
|
[NCBI]
|
0.000832802
|
|
|
bone size quantitative trait locus 1
|
[NCBI]
|
0.000716785
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.000716785
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.000641922
|
|
|
torus palatinus and torus mandibularis
|
[NCBI]
|
0.000641922
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.000586604
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000586604
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
0.000544369
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
0.000544369
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000542799
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000542799
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000542799
|
|
|
IH
|
[NCBI]
|
0.000542799
|
|
|
GO
|
[NCBI]
|
0.000506601
|
|
|
ACP5
|
[NCBI]
|
0.000502969
|
|
|
TD1
|
[NCBI]
|
0.000456793
|
|
|
DBQD
|
[NCBI]
|
0.00042545
|
|
|
camurati-engelmann disease
|
[NCBI]
|
0.000406914
|
|
|
ACG1A
|
[NCBI]
|
0.000404345
|
|
|
prenatal bowing
|
[NCBI]
|
0.000325847
|
|
|
dysplasia epiphysealis hemimelica
|
[NCBI]
|
0.000325847
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000290107
|
|
|
CRMO
|
[NCBI]
|
0.00028717
|
|
|
VDR
|
[NCBI]
|
0.000272628
|
|
|
TNFRSF11B
|
[NCBI]
|
0.00026418
|
|
|
ABS
|
[NCBI]
|
0.000260591
|
|
|
OD
|
[NCBI]
|
0.000258554
|
|
|
HCH
|
[NCBI]
|
0.000251021
|
|
|
ACH
|
[NCBI]
|
0.000227053
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
0.000218002
|
|
|
BGLAP
|
[NCBI]
|
0.000208319
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000204907
|
|
|
TD2
|
[NCBI]
|
0.000198927
|
|
|
AOI
|
[NCBI]
|
0.000191404
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
0.000184788
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000178886
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
0.000178886
|
|
|
IS1
|
[NCBI]
|
0.000169489
|
|
|
weaver syndrome
|
[NCBI]
|
0.000164249
|
|
|
osteosclerosis with ichthyosis and fractures
|
[NCBI]
|
0.000162837
|
|
|
ribbing disease
|
[NCBI]
|
0.000162837
|
|
|
bowing of long bones, asymmetric and symmetric
|
[NCBI]
|
0.000162837
|
|
|
cerebrorenodigital syndrome with limb malformations and triradiate acetabula
|
[NCBI]
|
0.000162837
|
|
|
thanatophoric dysplasia, glasgow variant
|
[NCBI]
|
0.000162837
|
|
|
genochondromatosis
|
[NCBI]
|
0.000162837
|
|
|
ulnar hypoplasia with mental retardation
|
[NCBI]
|
0.000162837
|
|
|
MAS
|
[NCBI]
|
0.000148887
|
|
|
CF
|
[NCBI]
|
0.000128549
|
|
|
achondrogenesis, type iii
|
[NCBI]
|
0.00012365
|
|
|
micromelic dysplasia, congenital, with dislocation of radius
|
[NCBI]
|
0.00012365
|
|
|
genu valgum, st. helena familial
|
[NCBI]
|
0.00012365
|
|
|
achondrogenesis, type iv
|
[NCBI]
|
0.00012365
|
|
|
ACFD
|
[NCBI]
|
0.00012365
|
|
|
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
|
[NCBI]
|
0.00012365
|
|
|
micromelic bone dysplasia with cloverleaf skull
|
[NCBI]
|
0.00012365
|
|
|
metaphyseal anadysplasia
|
[NCBI]
|
0.00012365
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
0.000114865
|
|
|
melorheostosis
|
[NCBI]
|
0.000108915
|
|
|
ankylosing vertebral hyperostosis with tylosis
|
[NCBI]
|
0.000108915
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
0.000108915
|
|
|
HHS
|
[NCBI]
|
0.000108915
|
|
|
rhizomelic syndrome
|
[NCBI]
|
0.000108915
|
|
|
metaphyseal dysplasia without hypotrichosis
|
[NCBI]
|
0.000108915
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
9.93778e-05
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
9.93778e-05
|
|
|
legg-calve-perthes disease
|
[NCBI]
|
9.93778e-05
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
9.93778e-05
|
|
|
plasmin inhibitor deficiency
|
[NCBI]
|
9.55843e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
9.23092e-05
|
|
|
EGF
|
[NCBI]
|
9.02924e-05
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
8.66946e-05
|
|
|
avascular necrosis of femoral head, primary
|
[NCBI]
|
8.66946e-05
|
|
|
caffey disease
|
[NCBI]
|
8.66946e-05
|
|
|
tibial hemimelia
|
[NCBI]
|
8.66946e-05
|
|
|
aglossia-adactylia
|
[NCBI]
|
8.66946e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
8.66946e-05
|
|
|
SPP1
|
[NCBI]
|
8.26475e-05
|
|
|
OGD
|
[NCBI]
|
7.80696e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
7.80696e-05
|
|
|
CCD
|
[NCBI]
|
7.76657e-05
|
|
|
FGFR3
|
[NCBI]
|
7.54421e-05
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
7.46091e-05
|
|
|
RNS
|
[NCBI]
|
7.46091e-05
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
7.15448e-05
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
7.15448e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
6.87971e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
6.87971e-05
|
|
|
ACG2
|
[NCBI]
|
6.87971e-05
|
|
|
DSMA1
|
[NCBI]
|
6.87971e-05
|
|
|
KAL2
|
[NCBI]
|
6.63081e-05
|
|
|
DMC
|
[NCBI]
|
6.63081e-05
|
|
|
paget disease, juvenile
|
[NCBI]
|
6.63081e-05
|
|
|
EDM1
|
[NCBI]
|
6.63081e-05
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
6.40347e-05
|
|
|
CIPA
|
[NCBI]
|
6.40347e-05
|
|
|
FMD
|
[NCBI]
|
6.19434e-05
|
|
|
AD
|
[NCBI]
|
5.97493e-05
|
|
|
ANKH
|
[NCBI]
|
5.87218e-05
|
|
|
CMDD
|
[NCBI]
|
5.65266e-05
|
|
|
CCAL2
|
[NCBI]
|
5.49494e-05
|
|
|
SEDC
|
[NCBI]
|
5.20633e-05
|
|
|
OPTB1
|
[NCBI]
|
5.07364e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
5.07364e-05
|
|
|
SLE
|
[NCBI]
|
4.98726e-05
|
|
|
COMP
|
[NCBI]
|
4.62422e-05
|
|
|
TNF
|
[NCBI]
|
4.53727e-05
|
|
|
NGFB
|
[NCBI]
|
4.48657e-05
|
|
|
HSAN3
|
[NCBI]
|
4.21227e-05
|
|
|
SJS1
|
[NCBI]
|
4.21227e-05
|
|
|
TNFSF11
|
[NCBI]
|
4.01299e-05
|
|
|
RCDP1
|
[NCBI]
|
3.95578e-05
|
|
|
RUNX2
|
[NCBI]
|
3.85582e-05
|
|
|
RTS
|
[NCBI]
|
3.79942e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
3.79942e-05
|
|
|
KAZALD1
|
[NCBI]
|
3.65042e-05
|
|
|
BGN
|
[NCBI]
|
3.62193e-05
|
|
|
AMC
|
[NCBI]
|
3.325e-05
|
|
|
WIF1
|
[NCBI]
|
3.27472e-05
|
|
|
PTHLH
|
[NCBI]
|
3.1981e-05
|
|
|
APS1
|
[NCBI]
|
3.04035e-05
|
|
|
NFIX
|
[NCBI]
|
3.03114e-05
|
|
|
WDR5
|
[NCBI]
|
3.03114e-05
|
|
|
PLXNA2
|
[NCBI]
|
3.03114e-05
|
|
|
MKS1
|
[NCBI]
|
2.93654e-05
|
|
|
SDS
|
[NCBI]
|
2.79012e-05
|
|
|
PRL
|
[NCBI]
|
2.76226e-05
|
|
|
BMP2
|
[NCBI]
|
2.75729e-05
|
|
|
CHH
|
[NCBI]
|
2.7436e-05
|
|
|
ZNF384
|
[NCBI]
|
2.70643e-05
|
|
|
FAM20C
|
[NCBI]
|
2.70643e-05
|
|
|
TRPV5
|
[NCBI]
|
2.58698e-05
|
|
|
PLXNB1
|
[NCBI]
|
2.58698e-05
|
|
|
SDC3
|
[NCBI]
|
2.58698e-05
|
|
|
TH
|
[NCBI]
|
2.39918e-05
|
|
|
WNT7A
|
[NCBI]
|
2.39575e-05
|
|
|
HSPG2
|
[NCBI]
|
2.39575e-05
|
|
|
CASR
|
[NCBI]
|
2.25735e-05
|
|
|
CDLS1
|
[NCBI]
|
2.18882e-05
|
|
|
RMRP
|
[NCBI]
|
2.18127e-05
|
|
|
BMP4
|
[NCBI]
|
2.12756e-05
|
|
|
CILP
|
[NCBI]
|
2.12232e-05
|
|
|
IL6R
|
[NCBI]
|
2.12232e-05
|
|
|
menkes disease
|
[NCBI]
|
2.05703e-05
|
|
|
COL10A1
|
[NCBI]
|
2.01765e-05
|
|
|
giant platelet syndrome
|
[NCBI]
|
1.99473e-05
|
|
|
ALPL
|
[NCBI]
|
1.92683e-05
|
|
|
RA
|
[NCBI]
|
1.92268e-05
|
|
|
F2RL1
|
[NCBI]
|
1.84668e-05
|
|
|
CASP3
|
[NCBI]
|
1.74183e-05
|
|
|
NPY
|
[NCBI]
|
1.71968e-05
|
|
|
FGF4
|
[NCBI]
|
1.62346e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
1.59689e-05
|
|
|
IHH
|
[NCBI]
|
1.5852e-05
|
|
|
TNFRSF1B
|
[NCBI]
|
1.50017e-05
|
|
|
FGF23
|
[NCBI]
|
1.41595e-05
|
|
|
GH1
|
[NCBI]
|
1.29084e-05
|
|
|
COL1A2
|
[NCBI]
|
1.21457e-05
|
|
|
IRS1
|
[NCBI]
|
1.20038e-05
|
|
|
GSC
|
[NCBI]
|
1.09735e-05
|
|
|
TF
|
[NCBI]
|
1.06658e-05
|
|
|
COL1A1
|
[NCBI]
|
1.06284e-05
|
|
|
AIRE
|
[NCBI]
|
1.01974e-05
|
|
|
SPARC
|
[NCBI]
|
9.60526e-06
|
|
|
STC1
|
[NCBI]
|
9.33057e-06
|
|
|
HGF
|
[NCBI]
|
9.27169e-06
|
|
|
CCL2
|
[NCBI]
|
9.24188e-06
|
|
|
GAPDH
|
[NCBI]
|
8.8446e-06
|
|
|
GHRH
|
[NCBI]
|
8.7493e-06
|
|
|
PPARG
|
[NCBI]
|
8.4247e-06
|
|
|
OSM
|
[NCBI]
|
7.66537e-06
|
|
|
GUSB
|
[NCBI]
|
7.51828e-06
|
|
|
VEGF
|
[NCBI]
|
6.97258e-06
|
|
|
PTN
|
[NCBI]
|
6.74656e-06
|
|
|
MITF
|
[NCBI]
|
6.4788e-06
|
|
|
SHBG
|
[NCBI]
|
5.55813e-06
|
|
|
STAT1
|
[NCBI]
|
5.36952e-06
|
|
|
PCNA
|
[NCBI]
|
5.01224e-06
|
|
|
FGF2
|
[NCBI]
|
4.97734e-06
|
|
|
CAT
|
[NCBI]
|
4.74528e-06
|
|
|
RB1
|
[NCBI]
|
4.51649e-06
|
|
|
KITLG
|
[NCBI]
|
4.25692e-06
|
|
|
CHS
|
[NCBI]
|
4.06203e-06
|
|
|
GHR
|
[NCBI]
|
3.81291e-06
|
|
|
ACE
|
[NCBI]
|
3.24702e-06
|
|
|
INS
|
[NCBI]
|
2.84654e-06
|
|
|
AFP
|
[NCBI]
|
2.77582e-06
|
|
|
AR
|
[NCBI]
|
2.73407e-06
|
|
|
ALB
|
[NCBI]
|
1.84311e-06
|
|
|
HDC
|
[NCBI]
|
1.75932e-06
|
|
|
SDC2
|
[NCBI]
|
1.70521e-06
|
|
|
PWS
|
[NCBI]
|
1.55608e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
1.27928e-06
|
|
|
G6PD
|
[NCBI]
|
5.15012e-07
|
|
|
SHH
|
[NCBI]
|
5.11603e-07
|
|
|
COMT
|
[NCBI]
|
4.43825e-07
|
|
|
EPO
|
[NCBI]
|
4.37528e-07
|
|
|
MUC1
|
[NCBI]
|
4.13655e-07
|
|
|
LPL
|
[NCBI]
|
3.52937e-07
|
|
|
CD
|
[NCBI]
|
2.55261e-07
|
|
|
DHFR
|
[NCBI]
|
1.75563e-07
|
|
|
CTGF
|
[NCBI]
|
1.43279e-07
|
|
|
PYY
|
[NCBI]
|
1.35577e-07
|
|
|
TG
|
[NCBI]
|
7.25616e-08
|
|
|
APOE
|
[NCBI]
|
2.15839e-08
|
|