|
OMIM |
Link |
Information gain |
01 |
|
SHFM1
|
[NCBI]
|
0.0113353
|
|
|
SHFLD1
|
[NCBI]
|
0.00637433
|
|
|
SHFM3
|
[NCBI]
|
0.00435822
|
|
|
EEC1
|
[NCBI]
|
0.0040734
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00219577
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.00216803
|
|
|
acrodysostosis
|
[NCBI]
|
0.00216803
|
|
|
SHFLD2
|
[NCBI]
|
0.00187434
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.00175815
|
|
|
SHFM5
|
[NCBI]
|
0.00135119
|
|
|
synostosis, carpal, with dysplastic elbow joints and brachydactyly
|
[NCBI]
|
0.00124866
|
|
|
brachydactyly, type a1, b
|
[NCBI]
|
0.00124866
|
|
|
SHFM2
|
[NCBI]
|
0.00113459
|
|
|
HOS
|
[NCBI]
|
0.00107526
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
0.000951413
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
0.000951413
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000934627
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.000934627
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
0.000818697
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000818697
|
|
|
mohr syndrome
|
[NCBI]
|
0.000763232
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000749828
|
|
|
proteus syndrome
|
[NCBI]
|
0.00074729
|
|
|
VDEGS
|
[NCBI]
|
0.000728522
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000660115
|
|
|
SLE
|
[NCBI]
|
0.000658937
|
|
|
poland syndrome
|
[NCBI]
|
0.000653058
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000623886
|
|
|
MSSD
|
[NCBI]
|
0.000623886
|
|
|
tukel syndrome
|
[NCBI]
|
0.000623886
|
|
|
heart-hand syndrome, slovenian type
|
[NCBI]
|
0.000623886
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.000623886
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000623886
|
|
|
BDA4
|
[NCBI]
|
0.000623886
|
|
|
camptosynpolydactyly, complex
|
[NCBI]
|
0.000623886
|
|
|
van bogaert-hozay syndrome
|
[NCBI]
|
0.000623886
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.000605107
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000605107
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000570772
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.00055922
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.00055922
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00055922
|
|
|
AOS
|
[NCBI]
|
0.000549177
|
|
|
GDF5
|
[NCBI]
|
0.000495701
|
|
|
DA5
|
[NCBI]
|
0.000485724
|
|
|
BDC
|
[NCBI]
|
0.000451828
|
|
|
ZLS
|
[NCBI]
|
0.000428365
|
|
|
BDB1
|
[NCBI]
|
0.000421862
|
|
|
BDA1
|
[NCBI]
|
0.000421862
|
|
|
acropectorovertebral dysplasia, f-form of
|
[NCBI]
|
0.000408919
|
|
|
acromicric dysplasia
|
[NCBI]
|
0.000408919
|
|
|
CRSA
|
[NCBI]
|
0.000408919
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000406556
|
|
|
CF
|
[NCBI]
|
0.00039026
|
|
|
acheiropody
|
[NCBI]
|
0.00038572
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00038167
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.00038167
|
|
|
HOXA13
|
[NCBI]
|
0.000367916
|
|
|
feingold syndrome
|
[NCBI]
|
0.000367657
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
0.000353621
|
|
|
DRRS
|
[NCBI]
|
0.000345783
|
|
|
SALL4
|
[NCBI]
|
0.000338064
|
|
|
UMS
|
[NCBI]
|
0.0003336
|
|
|
MF4
|
[NCBI]
|
0.000329645
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000329645
|
|
|
DA4
|
[NCBI]
|
0.000329645
|
|
|
SPD1
|
[NCBI]
|
0.0002818
|
|
|
camptodactyly
|
[NCBI]
|
0.000279214
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000279214
|
|
|
omodysplasia
|
[NCBI]
|
0.000279214
|
|
|
EEC3
|
[NCBI]
|
0.000276014
|
|
|
TBS
|
[NCBI]
|
0.000266969
|
|
|
acrorenal syndrome, autosomal recessive
|
[NCBI]
|
0.000265152
|
|
|
split-hand with congenital nystagmus, fundal changes, and cataracts
|
[NCBI]
|
0.000265152
|
|
|
char syndrome
|
[NCBI]
|
0.000244937
|
|
|
TP73L
|
[NCBI]
|
0.000244823
|
|
|
opsismodysplasia
|
[NCBI]
|
0.000242482
|
|
|
cenani syndactylism
|
[NCBI]
|
0.000242482
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.000242482
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.000242482
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.000242482
|
|
|
SYM1
|
[NCBI]
|
0.000218536
|
|
|
MKS2
|
[NCBI]
|
0.000213818
|
|
|
NLS
|
[NCBI]
|
0.000211596
|
|
|
ectrodactyly
|
[NCBI]
|
0.000210741
|
|
|
ROR2
|
[NCBI]
|
0.000205652
|
|
|
FGFR2
|
[NCBI]
|
0.000199961
|
|
|
SHFM4
|
[NCBI]
|
0.000197942
|
|
|
TRPS3
|
[NCBI]
|
0.000197942
|
|
|
sclerotylosis
|
[NCBI]
|
0.000190486
|
|
|
IHH
|
[NCBI]
|
0.00018966
|
|
|
polydactyly, preaxial i
|
[NCBI]
|
0.000187937
|
|
|
acrofacial dysostosis syndrome of rodriguez
|
[NCBI]
|
0.000187937
|
|
|
BDE
|
[NCBI]
|
0.000179704
|
|
|
FRNS
|
[NCBI]
|
0.000176841
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
0.000176726
|
|
|
holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
|
[NCBI]
|
0.000176726
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
0.000176726
|
|
|
syndactyly, type iv
|
[NCBI]
|
0.000176726
|
|
|
microcephaly and digital abnormalities with normal intelligence
|
[NCBI]
|
0.000176726
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
0.000176726
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.000172704
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
0.000166613
|
|
|
CLS
|
[NCBI]
|
0.000160524
|
|
|
TFAP2B
|
[NCBI]
|
0.000157069
|
|
|
PPD2
|
[NCBI]
|
0.000156387
|
|
|
MBS
|
[NCBI]
|
0.000154832
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000154234
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.000154234
|
|
|
SALL1
|
[NCBI]
|
0.000154068
|
|
|
SYNS1
|
[NCBI]
|
0.000152004
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
0.00014584
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
0.00014584
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
0.00014584
|
|
|
tetramelic monodactyly
|
[NCBI]
|
0.00014584
|
|
|
BDA6
|
[NCBI]
|
0.00014584
|
|
|
ACFD
|
[NCBI]
|
0.00014584
|
|
|
TBX5
|
[NCBI]
|
0.000144417
|
|
|
LMS
|
[NCBI]
|
0.000144307
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
0.000139724
|
|
|
gordon syndrome
|
[NCBI]
|
0.000139724
|
|
|
FMD
|
[NCBI]
|
0.000134723
|
|
|
CDHS
|
[NCBI]
|
0.000131919
|
|
|
ivic syndrome
|
[NCBI]
|
0.000131919
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
0.000131919
|
|
|
costello syndrome
|
[NCBI]
|
0.000125937
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.00012442
|
|
|
weaver syndrome
|
[NCBI]
|
0.000120025
|
|
|
ACLS
|
[NCBI]
|
0.000116016
|
|
|
tibial hemimelia
|
[NCBI]
|
0.000115094
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
0.000115094
|
|
|
BDA2
|
[NCBI]
|
0.000115094
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.000109185
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
0.000109185
|
|
|
keutel syndrome
|
[NCBI]
|
0.000109185
|
|
|
POADS
|
[NCBI]
|
0.000105534
|
|
|
PAX3
|
[NCBI]
|
0.000102528
|
|
|
DA2A
|
[NCBI]
|
0.000101411
|
|
|
catel-manzke syndrome
|
[NCBI]
|
9.99308e-05
|
|
|
AMCN
|
[NCBI]
|
9.64252e-05
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
9.64252e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
9.61638e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
9.61638e-05
|
|
|
COL2A1
|
[NCBI]
|
9.55189e-05
|
|
|
JWS
|
[NCBI]
|
9.28047e-05
|
|
|
DA1
|
[NCBI]
|
9.28047e-05
|
|
|
PHS
|
[NCBI]
|
9.04573e-05
|
|
|
FDH
|
[NCBI]
|
8.93952e-05
|
|
|
progeroid facial appearance with hand anomalies
|
[NCBI]
|
8.83417e-05
|
|
|
mesoaxial hexadactyly and cardiac malformation
|
[NCBI]
|
8.83417e-05
|
|
|
anonychia, total, with microcephaly
|
[NCBI]
|
8.83417e-05
|
|
|
sugarman brachydactyly
|
[NCBI]
|
8.83417e-05
|
|
|
acrofacial dysostosis, palagonia type
|
[NCBI]
|
8.83417e-05
|
|
|
dauwerse-peters syndrome
|
[NCBI]
|
8.83417e-05
|
|
|
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
|
[NCBI]
|
8.83417e-05
|
|
|
congenital heart defects, hamartomas of tongue, and polysyndactyly
|
[NCBI]
|
8.83417e-05
|
|
|
patent ductus arteriosus and bicuspid aortic valve with hand anomalies
|
[NCBI]
|
8.83417e-05
|
|
|
hand and foot deformity with flat facies
|
[NCBI]
|
8.83417e-05
|
|
|
holoprosencephaly, semilobar, with craniosynostosis
|
[NCBI]
|
8.83417e-05
|
|
|
adactylia, unilateral
|
[NCBI]
|
8.83417e-05
|
|
|
digital arthropathy-brachydactyly, familial
|
[NCBI]
|
8.83417e-05
|
|
|
brachydactyly, type e, with atrial septal defect, type ii
|
[NCBI]
|
8.83417e-05
|
|
|
polydactyly, postaxial, with dental and vertebral anomalies
|
[NCBI]
|
8.83417e-05
|
|
|
split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
|
[NCBI]
|
8.83417e-05
|
|
|
symphalangism with multiple anomalies of hands and feet
|
[NCBI]
|
8.83417e-05
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
8.83417e-05
|
|
|
cortical blindness, retardation, and postaxial polydactyly
|
[NCBI]
|
8.83417e-05
|
|
|
osebold skeletal dysplasia/osteolysis syndrome
|
[NCBI]
|
8.83417e-05
|
|
|
CASS
|
[NCBI]
|
8.83417e-05
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
8.83417e-05
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
8.83417e-05
|
|
|
rudiger syndrome
|
[NCBI]
|
8.83417e-05
|
|
|
ulnar/fibular ray defect and brachydactyly
|
[NCBI]
|
8.83417e-05
|
|
|
robin sequence with distinctive facial appearance and brachydactyly
|
[NCBI]
|
8.83417e-05
|
|
|
postaxial oligodactyly, tetramelic
|
[NCBI]
|
8.83417e-05
|
|
|
bowing of long bones, asymmetric and symmetric
|
[NCBI]
|
8.83417e-05
|
|
|
fraser-like syndrome
|
[NCBI]
|
8.83417e-05
|
|
|
goiter, multinodular, cystic renal disease and digital anomalies
|
[NCBI]
|
8.83417e-05
|
|
|
brachydactyly, intraventricular septal defect, and deafness
|
[NCBI]
|
8.83417e-05
|
|
|
SMS
|
[NCBI]
|
8.45804e-05
|
|
|
NOG
|
[NCBI]
|
8.17443e-05
|
|
|
DURS1
|
[NCBI]
|
8.06909e-05
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
8.06909e-05
|
|
|
LRS1
|
[NCBI]
|
7.99767e-05
|
|
|
GLI3
|
[NCBI]
|
7.89815e-05
|
|
|
CDLS1
|
[NCBI]
|
7.88222e-05
|
|
|
MKS1
|
[NCBI]
|
7.6024e-05
|
|
|
deleted in split-hand/split-foot 1 region
|
[NCBI]
|
7.35849e-05
|
|
|
hairy palms and soles
|
[NCBI]
|
7.35849e-05
|
|
|
MBOAT1
|
[NCBI]
|
7.35849e-05
|
|
|
AFD1
|
[NCBI]
|
6.80336e-05
|
|
|
TRPS1
|
[NCBI]
|
6.80336e-05
|
|
|
ectrodactyly and ectodermal dysplasia without cleft lip/palate
|
[NCBI]
|
6.59388e-05
|
|
|
BDB2
|
[NCBI]
|
6.59388e-05
|
|
|
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly
|
[NCBI]
|
6.59388e-05
|
|
|
mental retardation, x-linked, with brachydactyly and macroglossia
|
[NCBI]
|
6.59388e-05
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
6.59388e-05
|
|
|
tibia, absence of, with polydactyly
|
[NCBI]
|
6.59388e-05
|
|
|
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
[NCBI]
|
6.59388e-05
|
|
|
keratosis linearis with ichthyosis congenita and sclerosing keratoderma
|
[NCBI]
|
6.59388e-05
|
|
|
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
|
[NCBI]
|
6.59388e-05
|
|
|
spondyloepimetaphyseal dysplasia, x-linked
|
[NCBI]
|
6.59388e-05
|
|
|
platyspondyly with amelogenesis imperfecta
|
[NCBI]
|
6.59388e-05
|
|
|
acrofacial dysostosis, catania type
|
[NCBI]
|
6.59388e-05
|
|
|
BDD
|
[NCBI]
|
6.59388e-05
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
6.59388e-05
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
6.59388e-05
|
|
|
acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia
|
[NCBI]
|
6.59388e-05
|
|
|
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
|
[NCBI]
|
6.59388e-05
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
6.59388e-05
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
6.59388e-05
|
|
|
ectrodactyly-cleft palate syndrome
|
[NCBI]
|
6.59388e-05
|
|
|
devriendt syndrome
|
[NCBI]
|
6.59388e-05
|
|
|
pterygium colli and mental retardation with facial and digital anomalies
|
[NCBI]
|
6.59388e-05
|
|
|
thumbs, stiff, with brachydactyly type a1 and developmental delay
|
[NCBI]
|
6.59388e-05
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
6.59388e-05
|
|
|
summitt syndrome
|
[NCBI]
|
6.59388e-05
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
6.59388e-05
|
|
|
FGFR3
|
[NCBI]
|
6.35194e-05
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
6.18598e-05
|
|
|
GEMSS
|
[NCBI]
|
5.75263e-05
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
5.75263e-05
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
5.75263e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
5.75263e-05
|
|
|
aarskog syndrome
|
[NCBI]
|
5.75263e-05
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
5.75263e-05
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
5.75263e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
5.75263e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
5.75263e-05
|
|
|
TCC
|
[NCBI]
|
5.75263e-05
|
|
|
camera-marugo-cohen syndrome
|
[NCBI]
|
5.75263e-05
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
5.75263e-05
|
|
|
DLX5
|
[NCBI]
|
5.46148e-05
|
|
|
HOXD10
|
[NCBI]
|
5.46148e-05
|
|
|
ODDD
|
[NCBI]
|
5.38779e-05
|
|
|
AHO
|
[NCBI]
|
5.3459e-05
|
|
|
apert syndrome
|
[NCBI]
|
5.3034e-05
|
|
|
furlong syndrome: fs
|
[NCBI]
|
5.20877e-05
|
|
|
oroacral syndrome, verloes-koulischer type
|
[NCBI]
|
5.20877e-05
|
|
|
say syndrome
|
[NCBI]
|
5.20877e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
5.20877e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
5.20877e-05
|
|
|
eem syndrome
|
[NCBI]
|
5.20877e-05
|
|
|
TS
|
[NCBI]
|
5.20877e-05
|
|
|
gombo syndrome
|
[NCBI]
|
5.20877e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
5.20877e-05
|
|
|
EVC
|
[NCBI]
|
5.14198e-05
|
|
|
SUFU
|
[NCBI]
|
5.1243e-05
|
|
|
FBXW4
|
[NCBI]
|
5.1243e-05
|
|
|
CUL4B
|
[NCBI]
|
5.1243e-05
|
|
|
HOXD3
|
[NCBI]
|
4.87373e-05
|
|
|
COH1
|
[NCBI]
|
4.84526e-05
|
|
|
polydactyly
|
[NCBI]
|
4.80615e-05
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
4.80615e-05
|
|
|
scalp-ear-nipple syndrome
|
[NCBI]
|
4.80615e-05
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
4.80615e-05
|
|
|
osteolysis, hereditary multicentric
|
[NCBI]
|
4.80615e-05
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
4.80615e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
4.80615e-05
|
|
|
pulmonary hypertension, familial persistent, of the newborn
|
[NCBI]
|
4.80615e-05
|
|
|
GCS1
|
[NCBI]
|
4.80615e-05
|
|
|
keratitis, hereditary
|
[NCBI]
|
4.80615e-05
|
|
|
GCPS
|
[NCBI]
|
4.70832e-05
|
|
|
SCS
|
[NCBI]
|
4.70832e-05
|
|
|
MYH8
|
[NCBI]
|
4.67417e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
4.48671e-05
|
|
|
syndactyly, type iii
|
[NCBI]
|
4.48671e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
4.36643e-05
|
|
|
PAPSS2
|
[NCBI]
|
4.36643e-05
|
|
|
OD
|
[NCBI]
|
4.30756e-05
|
|
|
HSD17B4
|
[NCBI]
|
4.24244e-05
|
|
|
TBX3
|
[NCBI]
|
4.24244e-05
|
|
|
FGD1
|
[NCBI]
|
4.13237e-05
|
|
|
LMBR1
|
[NCBI]
|
4.13237e-05
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
3.99685e-05
|
|
|
WS1
|
[NCBI]
|
3.81398e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
3.80066e-05
|
|
|
EDM4
|
[NCBI]
|
3.80066e-05
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
3.80066e-05
|
|
|
winchester syndrome
|
[NCBI]
|
3.80066e-05
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
3.80066e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
3.62714e-05
|
|
|
muenke syndrome
|
[NCBI]
|
3.62714e-05
|
|
|
EXT2
|
[NCBI]
|
3.58748e-05
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
3.47174e-05
|
|
|
SPG17
|
[NCBI]
|
3.47174e-05
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
3.47174e-05
|
|
|
NKX2E
|
[NCBI]
|
3.42319e-05
|
|
|
WS3
|
[NCBI]
|
3.33114e-05
|
|
|
ISS
|
[NCBI]
|
3.33114e-05
|
|
|
RNS
|
[NCBI]
|
3.20287e-05
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
3.20287e-05
|
|
|
BMP2
|
[NCBI]
|
3.19926e-05
|
|
|
EPHX1
|
[NCBI]
|
3.08622e-05
|
|
|
DA2B
|
[NCBI]
|
3.08502e-05
|
|
|
SFD
|
[NCBI]
|
2.9761e-05
|
|
|
PFM
|
[NCBI]
|
2.9761e-05
|
|
|
c syndrome
|
[NCBI]
|
2.9761e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
2.9761e-05
|
|
|
HPE3
|
[NCBI]
|
2.9761e-05
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
2.9761e-05
|
|
|
coffin-siris syndrome
|
[NCBI]
|
2.93485e-05
|
|
|
JBTS1
|
[NCBI]
|
2.93485e-05
|
|
|
pitt syndrome
|
[NCBI]
|
2.87493e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
2.87493e-05
|
|
|
exostoses, multiple, type ii
|
[NCBI]
|
2.87493e-05
|
|
|
SHOX
|
[NCBI]
|
2.81018e-05
|
|
|
OPD2
|
[NCBI]
|
2.78052e-05
|
|
|
ATRX
|
[NCBI]
|
2.73347e-05
|
|
|
EDM1
|
[NCBI]
|
2.69208e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
2.69208e-05
|
|
|
HSAN2
|
[NCBI]
|
2.69208e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
2.53057e-05
|
|
|
masa syndrome
|
[NCBI]
|
2.45646e-05
|
|
|
JBS
|
[NCBI]
|
2.25595e-05
|
|
|
MADA
|
[NCBI]
|
2.13747e-05
|
|
|
MRXHF1
|
[NCBI]
|
2.13747e-05
|
|
|
GNAS
|
[NCBI]
|
2.03877e-05
|
|
|
OFD1
|
[NCBI]
|
2.029e-05
|
|
|
AIRE
|
[NCBI]
|
2.01588e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
1.97807e-05
|
|
|
GUSB
|
[NCBI]
|
1.92975e-05
|
|
|
OKS
|
[NCBI]
|
1.92914e-05
|
|
|
ABS
|
[NCBI]
|
1.92914e-05
|
|
|
fraser syndrome
|
[NCBI]
|
1.83674e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
1.79305e-05
|
|
|
MCOPS7
|
[NCBI]
|
1.79305e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
1.79305e-05
|
|
|
SCDO1
|
[NCBI]
|
1.79305e-05
|
|
|
FBN1
|
[NCBI]
|
1.77061e-05
|
|
|
SGBS1
|
[NCBI]
|
1.7509e-05
|
|
|
HFM
|
[NCBI]
|
1.61554e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
1.52566e-05
|
|
|
SDC2
|
[NCBI]
|
1.4767e-05
|
|
|
TRPS2
|
[NCBI]
|
1.42791e-05
|
|
|
RP
|
[NCBI]
|
1.39917e-05
|
|
|
GJA1
|
[NCBI]
|
1.37455e-05
|
|
|
XPA
|
[NCBI]
|
1.36732e-05
|
|
|
LWD
|
[NCBI]
|
1.31e-05
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
1.12772e-05
|
|
|
sotos syndrome
|
[NCBI]
|
1.08597e-05
|
|
|
RSTS
|
[NCBI]
|
9.61424e-06
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
8.19007e-06
|
|
|
SHH
|
[NCBI]
|
8.02234e-06
|
|
|
HGPS
|
[NCBI]
|
7.26644e-06
|
|
|
FOP
|
[NCBI]
|
6.98219e-06
|
|
|
AVSD
|
[NCBI]
|
6.06894e-06
|
|
|
WHS
|
[NCBI]
|
5.3757e-06
|
|
|
SDS
|
[NCBI]
|
5.3757e-06
|
|
|
PTH
|
[NCBI]
|
5.10832e-06
|
|
|
SRS
|
[NCBI]
|
4.95714e-06
|
|
|
NS1
|
[NCBI]
|
4.65659e-06
|
|
|
APS1
|
[NCBI]
|
4.10736e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
2.45343e-06
|
|
|
AT
|
[NCBI]
|
1.13298e-06
|
|
|
FA
|
[NCBI]
|
8.25044e-07
|
|
|
WBS
|
[NCBI]
|
1.86372e-07
|
|
|
RTT
|
[NCBI]
|
4.98282e-08
|
|