|
OMIM |
Link |
Information gain |
01 |
|
SHFM1
|
[NCBI]
|
0.0127877
|
|
|
EEC1
|
[NCBI]
|
0.00743606
|
|
|
SHFM3
|
[NCBI]
|
0.00534013
|
|
|
SHFLD1
|
[NCBI]
|
0.00483932
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.00230083
|
|
|
acrodysostosis
|
[NCBI]
|
0.00230083
|
|
|
SHFLD2
|
[NCBI]
|
0.00195463
|
|
|
SHFM2
|
[NCBI]
|
0.00186414
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.00186414
|
|
|
AOS
|
[NCBI]
|
0.00171208
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.00160347
|
|
|
SHFM5
|
[NCBI]
|
0.00143054
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00126785
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.00101162
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
0.0010043
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
0.0010043
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000932324
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000871113
|
|
|
proteus syndrome
|
[NCBI]
|
0.000862145
|
|
|
mohr syndrome
|
[NCBI]
|
0.00083834
|
|
|
cenani syndactylism
|
[NCBI]
|
0.000780468
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000650481
|
|
|
MCS
|
[NCBI]
|
0.000650481
|
|
|
MSSD
|
[NCBI]
|
0.000650481
|
|
|
heart-hand syndrome, slovenian type
|
[NCBI]
|
0.000650481
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.000650481
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000650481
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000650481
|
|
|
van bogaert-hozay syndrome
|
[NCBI]
|
0.000650481
|
|
|
acheiropody
|
[NCBI]
|
0.000622739
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.000609752
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000535313
|
|
|
DA5
|
[NCBI]
|
0.000535313
|
|
|
HOXA13
|
[NCBI]
|
0.000483919
|
|
|
POADS
|
[NCBI]
|
0.00045209
|
|
|
acropectorovertebral dysplasia, f-form of
|
[NCBI]
|
0.000435044
|
|
|
aplasia cutis congenita of limbs, recessive
|
[NCBI]
|
0.000435044
|
|
|
acromicric dysplasia
|
[NCBI]
|
0.000435044
|
|
|
brachydactyly, type a1, b
|
[NCBI]
|
0.000435044
|
|
|
CRSA
|
[NCBI]
|
0.000435044
|
|
|
SLE
|
[NCBI]
|
0.000399496
|
|
|
MCOPS8
|
[NCBI]
|
0.000380942
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000355298
|
|
|
DA4
|
[NCBI]
|
0.000355298
|
|
|
JWS
|
[NCBI]
|
0.000353748
|
|
|
feingold syndrome
|
[NCBI]
|
0.000322016
|
|
|
SHFM4
|
[NCBI]
|
0.000319123
|
|
|
EEC3
|
[NCBI]
|
0.000309934
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
0.000304396
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000304396
|
|
|
tetramelic monodactyly
|
[NCBI]
|
0.000285609
|
|
|
split-hand with congenital nystagmus, fundal changes, and cataracts
|
[NCBI]
|
0.000285609
|
|
|
PPS
|
[NCBI]
|
0.000274445
|
|
|
BDB1
|
[NCBI]
|
0.000272114
|
|
|
TP73L
|
[NCBI]
|
0.000271536
|
|
|
GDF5
|
[NCBI]
|
0.000267294
|
|
|
VDEGS
|
[NCBI]
|
0.000267193
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.000267193
|
|
|
BWCNS
|
[NCBI]
|
0.000267193
|
|
|
CVT
|
[NCBI]
|
0.000249191
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000243811
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000238058
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000238058
|
|
|
SPD1
|
[NCBI]
|
0.000235632
|
|
|
FGFR2
|
[NCBI]
|
0.000232013
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.000214255
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000214255
|
|
|
costello syndrome
|
[NCBI]
|
0.000208499
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.000194241
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.000194241
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
0.000190342
|
|
|
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
[NCBI]
|
0.000190342
|
|
|
holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
|
[NCBI]
|
0.000190342
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
0.000190342
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
0.000190342
|
|
|
microcephaly and digital abnormalities with normal intelligence
|
[NCBI]
|
0.000190342
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000188919
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
0.000186902
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.000177061
|
|
|
TBS
|
[NCBI]
|
0.000176981
|
|
|
BDC
|
[NCBI]
|
0.000164477
|
|
|
LMS
|
[NCBI]
|
0.000164477
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
0.00016208
|
|
|
gordon syndrome
|
[NCBI]
|
0.00016208
|
|
|
ROR2
|
[NCBI]
|
0.000160195
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
0.000159432
|
|
|
acrorenal syndrome, autosomal recessive
|
[NCBI]
|
0.000159432
|
|
|
split-foot deformity with mandibulofacial dysostosis
|
[NCBI]
|
0.000159432
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
0.000159432
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
0.000159432
|
|
|
BDA6
|
[NCBI]
|
0.000159432
|
|
|
TCC
|
[NCBI]
|
0.000159432
|
|
|
MCOPS1
|
[NCBI]
|
0.000148855
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
0.000145487
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
0.000145487
|
|
|
weaver syndrome
|
[NCBI]
|
0.000139979
|
|
|
SNX3
|
[NCBI]
|
0.000138764
|
|
|
HOXD10
|
[NCBI]
|
0.000138764
|
|
|
ZLS
|
[NCBI]
|
0.000137067
|
|
|
ectrodactyly
|
[NCBI]
|
0.000135929
|
|
|
GCS1
|
[NCBI]
|
0.000135929
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
0.000128614
|
|
|
tibial hemimelia
|
[NCBI]
|
0.000128614
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000126475
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
0.000122681
|
|
|
DA2A
|
[NCBI]
|
0.000121102
|
|
|
MYH8
|
[NCBI]
|
0.000119793
|
|
|
apert syndrome
|
[NCBI]
|
0.000118371
|
|
|
AMCN
|
[NCBI]
|
0.000116895
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.000116895
|
|
|
SCS
|
[NCBI]
|
0.000108846
|
|
|
DA1
|
[NCBI]
|
0.000106205
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
0.000106205
|
|
|
PPD2
|
[NCBI]
|
0.000103151
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000100217
|
|
|
ulnar hypoplasia with lobster-claw deformity of feet
|
[NCBI]
|
9.51386e-05
|
|
|
sugarman brachydactyly
|
[NCBI]
|
9.51386e-05
|
|
|
congenital heart defects, hamartomas of tongue, and polysyndactyly
|
[NCBI]
|
9.51386e-05
|
|
|
hand and foot deformity with flat facies
|
[NCBI]
|
9.51386e-05
|
|
|
digital arthropathy-brachydactyly, familial
|
[NCBI]
|
9.51386e-05
|
|
|
brachydactyly, type e, with atrial septal defect, type ii
|
[NCBI]
|
9.51386e-05
|
|
|
polydactyly, postaxial, with dental and vertebral anomalies
|
[NCBI]
|
9.51386e-05
|
|
|
symphalangism with multiple anomalies of hands and feet
|
[NCBI]
|
9.51386e-05
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
9.51386e-05
|
|
|
cortical blindness, retardation, and postaxial polydactyly
|
[NCBI]
|
9.51386e-05
|
|
|
osebold skeletal dysplasia/osteolysis syndrome
|
[NCBI]
|
9.51386e-05
|
|
|
palant cleft palate syndrome
|
[NCBI]
|
9.51386e-05
|
|
|
CASS
|
[NCBI]
|
9.51386e-05
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
9.51386e-05
|
|
|
postaxial oligodactyly, tetramelic
|
[NCBI]
|
9.51386e-05
|
|
|
ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
|
[NCBI]
|
9.51386e-05
|
|
|
goiter, multinodular, cystic renal disease and digital anomalies
|
[NCBI]
|
9.51386e-05
|
|
|
LRS1
|
[NCBI]
|
9.32573e-05
|
|
|
OPD2
|
[NCBI]
|
9.12076e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
8.26103e-05
|
|
|
deleted in split-hand/split-foot 1 region
|
[NCBI]
|
7.8776e-05
|
|
|
hairy palms and soles
|
[NCBI]
|
7.8776e-05
|
|
|
FGFR3
|
[NCBI]
|
7.87716e-05
|
|
|
ACLS
|
[NCBI]
|
7.71364e-05
|
|
|
HMI
|
[NCBI]
|
7.61159e-05
|
|
|
ectrodactyly and ectodermal dysplasia without cleft lip/palate
|
[NCBI]
|
7.27117e-05
|
|
|
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly
|
[NCBI]
|
7.27117e-05
|
|
|
tibia, absence of, with polydactyly
|
[NCBI]
|
7.27117e-05
|
|
|
external auditory canal, bilateral atresia of, with congenital vertical talus
|
[NCBI]
|
7.27117e-05
|
|
|
BDD
|
[NCBI]
|
7.27117e-05
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
7.27117e-05
|
|
|
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
[NCBI]
|
7.27117e-05
|
|
|
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
|
[NCBI]
|
7.27117e-05
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
7.27117e-05
|
|
|
syndactyly, type iv
|
[NCBI]
|
7.27117e-05
|
|
|
pelvic hypoplasia with lower-limb arthrogryposis
|
[NCBI]
|
7.27117e-05
|
|
|
ectrodactyly-cleft palate syndrome
|
[NCBI]
|
7.27117e-05
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
7.27117e-05
|
|
|
lambert syndrome
|
[NCBI]
|
7.27117e-05
|
|
|
summitt syndrome
|
[NCBI]
|
7.27117e-05
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
7.27117e-05
|
|
|
AOIII
|
[NCBI]
|
7.27117e-05
|
|
|
ectrodactyly of lower limbs, congenital heart defect, and micrognathia
|
[NCBI]
|
7.27117e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
6.94489e-05
|
|
|
SHH
|
[NCBI]
|
6.82494e-05
|
|
|
IHH
|
[NCBI]
|
6.74181e-05
|
|
|
polydactyly, postaxial
|
[NCBI]
|
6.42753e-05
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
6.42753e-05
|
|
|
dysplasia epiphysealis hemimelica
|
[NCBI]
|
6.42753e-05
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
6.42753e-05
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
6.42753e-05
|
|
|
aminoadipic aciduria
|
[NCBI]
|
6.42753e-05
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
6.42753e-05
|
|
|
camera-marugo-cohen syndrome
|
[NCBI]
|
6.42753e-05
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
6.42753e-05
|
|
|
EVC
|
[NCBI]
|
6.41494e-05
|
|
|
DLX5
|
[NCBI]
|
5.98009e-05
|
|
|
FDH
|
[NCBI]
|
5.96692e-05
|
|
|
GCPS
|
[NCBI]
|
5.96692e-05
|
|
|
OD
|
[NCBI]
|
5.92989e-05
|
|
|
CMTC
|
[NCBI]
|
5.89861e-05
|
|
|
furlong syndrome: fs
|
[NCBI]
|
5.88128e-05
|
|
|
oroacral syndrome, verloes-koulischer type
|
[NCBI]
|
5.88128e-05
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
5.88128e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
5.88128e-05
|
|
|
TS
|
[NCBI]
|
5.88128e-05
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
5.88128e-05
|
|
|
SUFU
|
[NCBI]
|
5.64266e-05
|
|
|
FBXW4
|
[NCBI]
|
5.64266e-05
|
|
|
polydactyly
|
[NCBI]
|
5.47626e-05
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
5.47626e-05
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
5.47626e-05
|
|
|
osteolysis, hereditary multicentric
|
[NCBI]
|
5.47626e-05
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
5.47626e-05
|
|
|
keratitis, hereditary
|
[NCBI]
|
5.47626e-05
|
|
|
HOXD3
|
[NCBI]
|
5.39185e-05
|
|
|
SPS
|
[NCBI]
|
5.15443e-05
|
|
|
BDA2
|
[NCBI]
|
5.15443e-05
|
|
|
MKS1
|
[NCBI]
|
5.08417e-05
|
|
|
WNT7A
|
[NCBI]
|
5.02594e-05
|
|
|
SRS
|
[NCBI]
|
4.96352e-05
|
|
|
polydactyly, preaxial i
|
[NCBI]
|
4.88757e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
4.88757e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
4.8838e-05
|
|
|
HSD17B4
|
[NCBI]
|
4.75957e-05
|
|
|
NLS
|
[NCBI]
|
4.72029e-05
|
|
|
AMC
|
[NCBI]
|
4.66491e-05
|
|
|
BDE
|
[NCBI]
|
4.65977e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
4.65977e-05
|
|
|
FGD1
|
[NCBI]
|
4.64925e-05
|
|
|
LMBR1
|
[NCBI]
|
4.64925e-05
|
|
|
AOII
|
[NCBI]
|
4.46119e-05
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
4.46119e-05
|
|
|
catel-manzke syndrome
|
[NCBI]
|
4.46119e-05
|
|
|
JBTS1
|
[NCBI]
|
4.36834e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
4.28527e-05
|
|
|
muenke syndrome
|
[NCBI]
|
4.28527e-05
|
|
|
BDA1
|
[NCBI]
|
4.28527e-05
|
|
|
HOXD13
|
[NCBI]
|
4.16445e-05
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
4.12748e-05
|
|
|
SPG17
|
[NCBI]
|
4.12748e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
3.98448e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
3.98448e-05
|
|
|
AOI
|
[NCBI]
|
3.98448e-05
|
|
|
FFS
|
[NCBI]
|
3.98448e-05
|
|
|
NOG
|
[NCBI]
|
3.88823e-05
|
|
|
RNS
|
[NCBI]
|
3.85382e-05
|
|
|
adult syndrome
|
[NCBI]
|
3.85382e-05
|
|
|
SYNS1
|
[NCBI]
|
3.85382e-05
|
|
|
GLI3
|
[NCBI]
|
3.75351e-05
|
|
|
DA2B
|
[NCBI]
|
3.73357e-05
|
|
|
SYM1
|
[NCBI]
|
3.73357e-05
|
|
|
SFD
|
[NCBI]
|
3.62226e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
3.62226e-05
|
|
|
EDM1
|
[NCBI]
|
3.33106e-05
|
|
|
pycnodysostosis
|
[NCBI]
|
3.33106e-05
|
|
|
HSAN2
|
[NCBI]
|
3.33106e-05
|
|
|
FMD
|
[NCBI]
|
3.33106e-05
|
|
|
UMS
|
[NCBI]
|
3.16475e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
3.16475e-05
|
|
|
RHS
|
[NCBI]
|
3.08825e-05
|
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
3.08825e-05
|
|
|
TRPS1
|
[NCBI]
|
2.94647e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
2.75728e-05
|
|
|
COL2A1
|
[NCBI]
|
2.59904e-05
|
|
|
poland syndrome
|
[NCBI]
|
2.45377e-05
|
|
|
MCOPS7
|
[NCBI]
|
2.3961e-05
|
|
|
TRPS2
|
[NCBI]
|
2.007e-05
|
|
|
PHS
|
[NCBI]
|
1.97388e-05
|
|
|
XPA
|
[NCBI]
|
1.94161e-05
|
|
|
sotos syndrome
|
[NCBI]
|
1.63391e-05
|
|
|
HOS
|
[NCBI]
|
1.51698e-05
|
|
|
VWS
|
[NCBI]
|
1.49499e-05
|
|
|
RSTS
|
[NCBI]
|
1.49499e-05
|
|
|
HGPS
|
[NCBI]
|
1.22666e-05
|
|
|
FOP
|
[NCBI]
|
1.19344e-05
|
|
|
NS1
|
[NCBI]
|
9.12936e-06
|
|
|
AHO
|
[NCBI]
|
8.89187e-06
|
|
|
SMS
|
[NCBI]
|
8.2177e-06
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
7.75215e-06
|
|
|
CDLS1
|
[NCBI]
|
7.11417e-06
|
|
|
BBS
|
[NCBI]
|
6.15587e-06
|
|
|
IP
|
[NCBI]
|
5.46284e-06
|
|
|
FA
|
[NCBI]
|
2.33509e-06
|
|
|
SLOS
|
[NCBI]
|
1.54224e-06
|
|
|
RTT
|
[NCBI]
|
8.51556e-07
|
|
|
polycystic kidneys
|
[NCBI]
|
5.88289e-08
|
|
|
AT
|
[NCBI]
|
3.67145e-08
|
|