|
OMIM |
Link |
Information gain |
01 |
|
AOS
|
[NCBI]
|
0.00583658
|
|
|
POADS
|
[NCBI]
|
0.00316638
|
|
|
OFD4
|
[NCBI]
|
0.00256569
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.00239802
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00239802
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.00214002
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.00190614
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.00171796
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00145537
|
|
|
symphalangism, distal
|
[NCBI]
|
0.00138488
|
|
|
triphalangeal thumbs with brachyectrodactyly
|
[NCBI]
|
0.00138488
|
|
|
OFD5
|
[NCBI]
|
0.00138488
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00118087
|
|
|
SHFM1
|
[NCBI]
|
0.00117559
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.00106632
|
|
|
osteoarthropathy of fingers, familial
|
[NCBI]
|
0.00106632
|
|
|
SPD1
|
[NCBI]
|
0.000994678
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000968442
|
|
|
MKS1
|
[NCBI]
|
0.000939303
|
|
|
MSSD
|
[NCBI]
|
0.000903672
|
|
|
broad terminal phalanges, familial
|
[NCBI]
|
0.000903672
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.000903672
|
|
|
LGMD1G
|
[NCBI]
|
0.000903672
|
|
|
czech dysplasia, metatarsal type
|
[NCBI]
|
0.000903672
|
|
|
polysyndactyly, crossed
|
[NCBI]
|
0.000903672
|
|
|
brachydactyly, type a5, with nail dysplasia
|
[NCBI]
|
0.000903672
|
|
|
brachydactyly, combined b and e types
|
[NCBI]
|
0.000903672
|
|
|
proteus syndrome
|
[NCBI]
|
0.000855843
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.000823948
|
|
|
SYM1
|
[NCBI]
|
0.000784826
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
0.000780029
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000767657
|
|
|
RA
|
[NCBI]
|
0.000751245
|
|
|
mohr syndrome
|
[NCBI]
|
0.000718547
|
|
|
EEC1
|
[NCBI]
|
0.000676804
|
|
|
SHFLD1
|
[NCBI]
|
0.000675082
|
|
|
fingerprints, absence of
|
[NCBI]
|
0.000596692
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.000596692
|
|
|
dermal ridges-off-the-end
|
[NCBI]
|
0.000596692
|
|
|
clubbing of digits
|
[NCBI]
|
0.000596692
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
0.000533599
|
|
|
ACLS
|
[NCBI]
|
0.000519445
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000487662
|
|
|
syndactyly, type i
|
[NCBI]
|
0.000483323
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000483323
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000483323
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
0.000453091
|
|
|
polydactyly, postaxial
|
[NCBI]
|
0.000453091
|
|
|
GCPS
|
[NCBI]
|
0.00044195
|
|
|
klippel-feil syndrome, autosomal recessive
|
[NCBI]
|
0.000411109
|
|
|
cenani syndactylism
|
[NCBI]
|
0.000411109
|
|
|
dermal ridges, patternless
|
[NCBI]
|
0.000411109
|
|
|
BDC
|
[NCBI]
|
0.000378231
|
|
|
PHS
|
[NCBI]
|
0.000376149
|
|
|
OFD9
|
[NCBI]
|
0.000358442
|
|
|
gordon syndrome
|
[NCBI]
|
0.000358442
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.000358442
|
|
|
RSTS
|
[NCBI]
|
0.000333477
|
|
|
SLE
|
[NCBI]
|
0.000329131
|
|
|
FRNS
|
[NCBI]
|
0.000323167
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.000317287
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000317287
|
|
|
polydactyly
|
[NCBI]
|
0.000301946
|
|
|
toe, misshapen
|
[NCBI]
|
0.000301946
|
|
|
tibia, absence of, with polydactyly
|
[NCBI]
|
0.000301946
|
|
|
pierre robin syndrome and oligodactyly
|
[NCBI]
|
0.000301946
|
|
|
megalodactyly
|
[NCBI]
|
0.000301946
|
|
|
curved nail of fourth toe
|
[NCBI]
|
0.000301946
|
|
|
HOXD13
|
[NCBI]
|
0.000287799
|
|
|
OTSC1
|
[NCBI]
|
0.000283739
|
|
|
stiff skin syndrome
|
[NCBI]
|
0.000283739
|
|
|
BDB1
|
[NCBI]
|
0.000280974
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000255598
|
|
|
PPD2
|
[NCBI]
|
0.0002485
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
0.000247981
|
|
|
brachydactyly, preaxial, with hallux varus and thumb abduction
|
[NCBI]
|
0.000247981
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
0.000247981
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000231501
|
|
|
ZLS
|
[NCBI]
|
0.000231501
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000231501
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
0.000223666
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
0.000223666
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
0.000223666
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
0.000223666
|
|
|
PPS
|
[NCBI]
|
0.000211539
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000210541
|
|
|
DBQD
|
[NCBI]
|
0.000210541
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000210541
|
|
|
MKKS
|
[NCBI]
|
0.000207417
|
|
|
anonychia congenita
|
[NCBI]
|
0.000207017
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
0.000207017
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
0.000194291
|
|
|
aglossia-adactylia
|
[NCBI]
|
0.000194291
|
|
|
LMS
|
[NCBI]
|
0.000167835
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000155412
|
|
|
PDP
|
[NCBI]
|
0.000155412
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000155412
|
|
|
SYNS1
|
[NCBI]
|
0.000155412
|
|
|
anonychia-onychodystrophy
|
[NCBI]
|
0.000150916
|
|
|
symphalangism of toes
|
[NCBI]
|
0.000150916
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
0.000150916
|
|
|
toes, relative length of first and second
|
[NCBI]
|
0.000150916
|
|
|
microspherophakia with hernia
|
[NCBI]
|
0.000150916
|
|
|
acroosteolysis
|
[NCBI]
|
0.000150916
|
|
|
camptodactyly-ichthyosis syndrome
|
[NCBI]
|
0.000150916
|
|
|
crumpled helices and small mouth
|
[NCBI]
|
0.000150916
|
|
|
brachydactyly, mononen type
|
[NCBI]
|
0.000150916
|
|
|
ulnar agenesis and endocardial fibroelastosis
|
[NCBI]
|
0.000150916
|
|
|
acrorenal syndrome
|
[NCBI]
|
0.000150916
|
|
|
hirschsprung disease with polydactyly, renal agenesis, and deafness
|
[NCBI]
|
0.000150916
|
|
|
corneodermatoosseous syndrome
|
[NCBI]
|
0.000150916
|
|
|
microcephaly with digital anomalies
|
[NCBI]
|
0.000150916
|
|
|
albinism-microcephaly-digital anomalies syndrome
|
[NCBI]
|
0.000150916
|
|
|
cardiac malformation, cleft lip-palate, microcephaly and digital anomalies
|
[NCBI]
|
0.000150916
|
|
|
brachymetatarsus iv
|
[NCBI]
|
0.000150916
|
|
|
harrod syndrome
|
[NCBI]
|
0.000150916
|
|
|
heart-hand syndrome, spanish type
|
[NCBI]
|
0.000150916
|
|
|
brachydactyly-distal symphalangism syndrome
|
[NCBI]
|
0.000150916
|
|
|
polydactyly, postaxial, with progressive myopia
|
[NCBI]
|
0.000150916
|
|
|
eem syndrome
|
[NCBI]
|
0.000150916
|
|
|
craniosynostosis, philadelphia type
|
[NCBI]
|
0.000150916
|
|
|
aphalangy with hemivertebrae
|
[NCBI]
|
0.000150916
|
|
|
hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect
|
[NCBI]
|
0.000150916
|
|
|
oral and digital anomalies with ichthyosis
|
[NCBI]
|
0.000150916
|
|
|
cerebrorenodigital syndrome with limb malformations and triradiate acetabula
|
[NCBI]
|
0.000150916
|
|
|
spondyloepimetaphyseal dysplasia, micromelic
|
[NCBI]
|
0.000150916
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
0.000150916
|
|
|
hirschsprung disease with type d brachydactyly
|
[NCBI]
|
0.000150916
|
|
|
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
[NCBI]
|
0.000150916
|
|
|
brachymetapody-anodontia-hypotrichosis-albinoidism
|
[NCBI]
|
0.000150916
|
|
|
brachytelephalangy with characteristic facies and kallmann syndrome
|
[NCBI]
|
0.000150916
|
|
|
OPD2
|
[NCBI]
|
0.000140918
|
|
|
HOXA13
|
[NCBI]
|
0.000140024
|
|
|
feingold syndrome
|
[NCBI]
|
0.000136848
|
|
|
pfeiffer syndrome
|
[NCBI]
|
0.000129545
|
|
|
SLOS
|
[NCBI]
|
0.000125788
|
|
|
ACC
|
[NCBI]
|
0.000124778
|
|
|
OFD1
|
[NCBI]
|
0.000117436
|
|
|
NOG
|
[NCBI]
|
0.000114343
|
|
|
BDB2
|
[NCBI]
|
0.000111777
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
0.000111777
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
0.000111777
|
|
|
second metatarsal-metacarpal syndrome
|
[NCBI]
|
0.000111777
|
|
|
tonoki syndrome
|
[NCBI]
|
0.000111777
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
0.000111777
|
|
|
trigonocephaly with short stature and developmental delay
|
[NCBI]
|
0.000111777
|
|
|
scott craniodigital syndrome with mental retardation
|
[NCBI]
|
0.000111777
|
|
|
PC1
|
[NCBI]
|
0.000111777
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
0.000111777
|
|
|
dermal ridges, nelson syndrome
|
[NCBI]
|
0.000111777
|
|
|
uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
|
[NCBI]
|
0.000111777
|
|
|
ODDD
|
[NCBI]
|
0.000109922
|
|
|
BBS
|
[NCBI]
|
0.000100216
|
|
|
FDH
|
[NCBI]
|
9.94564e-05
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
9.70894e-05
|
|
|
split-foot deformity with mandibulofacial dysostosis
|
[NCBI]
|
9.70894e-05
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
9.70894e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
9.70894e-05
|
|
|
SCS
|
[NCBI]
|
8.77687e-05
|
|
|
oroacral syndrome, verloes-koulischer type
|
[NCBI]
|
8.75998e-05
|
|
|
gaucher disease, type iiic
|
[NCBI]
|
8.75998e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
8.75998e-05
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
8.05787e-05
|
|
|
polydactyly, preaxial i
|
[NCBI]
|
8.05787e-05
|
|
|
PBC
|
[NCBI]
|
8.05787e-05
|
|
|
char syndrome
|
[NCBI]
|
8.05787e-05
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
8.05787e-05
|
|
|
muenke syndrome
|
[NCBI]
|
8.05787e-05
|
|
|
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia
|
[NCBI]
|
8.05787e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
8.05787e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
8.05787e-05
|
|
|
TRPS3
|
[NCBI]
|
8.05787e-05
|
|
|
MLRD
|
[NCBI]
|
8.05787e-05
|
|
|
lymphedema, hereditary, ii
|
[NCBI]
|
7.50116e-05
|
|
|
adult syndrome
|
[NCBI]
|
7.50116e-05
|
|
|
DSAP1
|
[NCBI]
|
7.50116e-05
|
|
|
BDE
|
[NCBI]
|
7.50116e-05
|
|
|
BPES
|
[NCBI]
|
7.06212e-05
|
|
|
JWS
|
[NCBI]
|
7.04052e-05
|
|
|
kawasaki disease
|
[NCBI]
|
7.04052e-05
|
|
|
kindler syndrome
|
[NCBI]
|
7.04052e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
7.04052e-05
|
|
|
GLI3
|
[NCBI]
|
6.99483e-05
|
|
|
MBS
|
[NCBI]
|
6.9326e-05
|
|
|
GDF5
|
[NCBI]
|
6.68583e-05
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
6.64816e-05
|
|
|
catel-manzke syndrome
|
[NCBI]
|
6.64816e-05
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
6.30685e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
6.30685e-05
|
|
|
EEC3
|
[NCBI]
|
6.30685e-05
|
|
|
BDA1
|
[NCBI]
|
6.30685e-05
|
|
|
GBA
|
[NCBI]
|
6.15119e-05
|
|
|
mental retardation, x-linked, with short stature
|
[NCBI]
|
6.02658e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
6.00517e-05
|
|
|
SHH
|
[NCBI]
|
5.85501e-05
|
|
|
OPD1
|
[NCBI]
|
5.73515e-05
|
|
|
CMT2B
|
[NCBI]
|
5.73515e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
5.73515e-05
|
|
|
LADD
|
[NCBI]
|
5.73515e-05
|
|
|
ALSG
|
[NCBI]
|
5.49101e-05
|
|
|
FFS
|
[NCBI]
|
5.49101e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
5.26841e-05
|
|
|
weaver syndrome
|
[NCBI]
|
5.06403e-05
|
|
|
DRRS
|
[NCBI]
|
5.06403e-05
|
|
|
CACP
|
[NCBI]
|
4.87526e-05
|
|
|
apert syndrome
|
[NCBI]
|
4.87526e-05
|
|
|
JBTS1
|
[NCBI]
|
4.87258e-05
|
|
|
MKS1
|
[NCBI]
|
4.65171e-05
|
|
|
SLSN1
|
[NCBI]
|
4.53661e-05
|
|
|
nail dysplasia, isolated congenital
|
[NCBI]
|
4.40717e-05
|
|
|
RSPO4
|
[NCBI]
|
4.40717e-05
|
|
|
AFD1
|
[NCBI]
|
4.23993e-05
|
|
|
HOXD11
|
[NCBI]
|
4.22537e-05
|
|
|
ITPKC
|
[NCBI]
|
4.22537e-05
|
|
|
ARL6
|
[NCBI]
|
4.22537e-05
|
|
|
PHA
|
[NCBI]
|
4.10452e-05
|
|
|
MNS
|
[NCBI]
|
4.10452e-05
|
|
|
HCH
|
[NCBI]
|
4.10452e-05
|
|
|
EFE
|
[NCBI]
|
4.10452e-05
|
|
|
GLI2
|
[NCBI]
|
4.08052e-05
|
|
|
HOXD12
|
[NCBI]
|
4.08052e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
3.97658e-05
|
|
|
MSS
|
[NCBI]
|
3.97658e-05
|
|
|
CXORF5
|
[NCBI]
|
3.9601e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
3.9601e-05
|
|
|
TBX2
|
[NCBI]
|
3.9601e-05
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
3.8554e-05
|
|
|
RAB7
|
[NCBI]
|
3.76694e-05
|
|
|
PFM
|
[NCBI]
|
3.74035e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
3.74035e-05
|
|
|
CFNS
|
[NCBI]
|
3.63091e-05
|
|
|
fraser syndrome
|
[NCBI]
|
3.63091e-05
|
|
|
GLI
|
[NCBI]
|
3.61494e-05
|
|
|
SRS
|
[NCBI]
|
3.56162e-05
|
|
|
BGS
|
[NCBI]
|
3.52661e-05
|
|
|
OKS
|
[NCBI]
|
3.52661e-05
|
|
|
TBX3
|
[NCBI]
|
3.48963e-05
|
|
|
ZEB2
|
[NCBI]
|
3.43434e-05
|
|
|
EVC
|
[NCBI]
|
3.42703e-05
|
|
|
RBS
|
[NCBI]
|
3.42703e-05
|
|
|
SMOH
|
[NCBI]
|
3.38302e-05
|
|
|
PTCH1
|
[NCBI]
|
3.33514e-05
|
|
|
ATD1
|
[NCBI]
|
3.33079e-05
|
|
|
MCOPS7
|
[NCBI]
|
3.15322e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
3.15322e-05
|
|
|
TWIST1
|
[NCBI]
|
3.03669e-05
|
|
|
CDPX2
|
[NCBI]
|
2.98861e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
2.95065e-05
|
|
|
MUC1
|
[NCBI]
|
2.92471e-05
|
|
|
HMI
|
[NCBI]
|
2.8739e-05
|
|
|
SCDO1
|
[NCBI]
|
2.76413e-05
|
|
|
FOP
|
[NCBI]
|
2.69458e-05
|
|
|
COL2A1
|
[NCBI]
|
2.44914e-05
|
|
|
hypertension, essential
|
[NCBI]
|
2.21398e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.16187e-05
|
|
|
INSR
|
[NCBI]
|
2.017e-05
|
|
|
HNPP
|
[NCBI]
|
2.01428e-05
|
|
|
FGFR1
|
[NCBI]
|
1.9362e-05
|
|
|
CD
|
[NCBI]
|
1.92254e-05
|
|
|
CLS
|
[NCBI]
|
1.87851e-05
|
|
|
AVSD
|
[NCBI]
|
1.83563e-05
|
|
|
TD1
|
[NCBI]
|
1.79386e-05
|
|
|
AHO
|
[NCBI]
|
1.75316e-05
|
|
|
FGFR3
|
[NCBI]
|
1.7066e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
1.60029e-05
|
|
|
MB
|
[NCBI]
|
1.47254e-05
|
|
|
CCD
|
[NCBI]
|
1.30564e-05
|
|
|
PD
|
[NCBI]
|
1.25027e-05
|
|
|
ACH
|
[NCBI]
|
1.24801e-05
|
|
|
fabry disease
|
[NCBI]
|
9.4996e-06
|
|
|
MBP
|
[NCBI]
|
9.37117e-06
|
|
|
BCNS
|
[NCBI]
|
8.46141e-06
|
|
|
WHS
|
[NCBI]
|
8.07463e-06
|
|
|
kabuki syndrome
|
[NCBI]
|
7.30349e-06
|
|
|
CPI
|
[NCBI]
|
6.83595e-06
|
|
|
DFSP
|
[NCBI]
|
4.94202e-06
|
|
|
PTH
|
[NCBI]
|
3.77168e-06
|
|
|
AFP
|
[NCBI]
|
3.35639e-06
|
|
|
CEACAM5
|
[NCBI]
|
1.89883e-06
|
|
|
VEGF
|
[NCBI]
|
1.78581e-06
|
|
|
GFAP
|
[NCBI]
|
1.78924e-07
|
|