|
OMIM |
Link |
Information gain |
01 |
|
kabuki syndrome
|
[NCBI]
|
0.00439552
|
|
|
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
|
[NCBI]
|
0.00135902
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000878028
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
0.000878028
|
|
|
ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
|
[NCBI]
|
0.000827566
|
|
|
SRS
|
[NCBI]
|
0.000639208
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
0.000620564
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000610413
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
0.000528953
|
|
|
FGS2
|
[NCBI]
|
0.000528953
|
|
|
sprengel deformity
|
[NCBI]
|
0.000528953
|
|
|
noonan syndrome 2
|
[NCBI]
|
0.000476336
|
|
|
SGM1
|
[NCBI]
|
0.000476336
|
|
|
VDEGS
|
[NCBI]
|
0.000437418
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.000437418
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.000381049
|
|
|
UFS
|
[NCBI]
|
0.000381049
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.000359319
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.000340423
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000323725
|
|
|
PCA
|
[NCBI]
|
0.000323725
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.00029528
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.000271674
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000271674
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000251562
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000226163
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000218693
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000215274
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000188867
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000176126
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
0.000168304
|
|
|
roifman syndrome
|
[NCBI]
|
0.000168304
|
|
|
PCD
|
[NCBI]
|
0.000166305
|
|
|
GCS1
|
[NCBI]
|
0.000158722
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000145428
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000145428
|
|
|
sotos syndrome
|
[NCBI]
|
0.000131544
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.000125782
|
|
|
CLS
|
[NCBI]
|
0.00012431
|
|
|
RNS
|
[NCBI]
|
0.000122976
|
|
|
LRS1
|
[NCBI]
|
0.000115795
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000109213
|
|
|
WHS
|
[NCBI]
|
0.000108196
|
|
|
progeroid facial appearance with hand anomalies
|
[NCBI]
|
0.000106537
|
|
|
growth deficiency and mental retardation with facial dysmorphism
|
[NCBI]
|
0.000106537
|
|
|
harrod syndrome
|
[NCBI]
|
0.000106537
|
|
|
lymphedema, atrial septal defect, and facial changes
|
[NCBI]
|
0.000106537
|
|
|
HPE9
|
[NCBI]
|
0.000106537
|
|
|
mandibulofacial dysostosis with macroblepharon and macrostomia
|
[NCBI]
|
0.000106537
|
|
|
iridogoniodysgenesis and skeletal anomalies
|
[NCBI]
|
0.000106537
|
|
|
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
|
[NCBI]
|
0.000106537
|
|
|
proteus syndrome
|
[NCBI]
|
0.000103924
|
|
|
HSS
|
[NCBI]
|
0.000102103
|
|
|
JAG1
|
[NCBI]
|
9.63895e-05
|
|
|
GPC3
|
[NCBI]
|
9.63895e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
9.5834e-05
|
|
|
OKS
|
[NCBI]
|
9.47183e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
9.36412e-05
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
9.1925e-05
|
|
|
SGBS1
|
[NCBI]
|
9.06173e-05
|
|
|
DA2A
|
[NCBI]
|
8.96716e-05
|
|
|
mental retardation, x-linked, south african type
|
[NCBI]
|
8.48492e-05
|
|
|
C7ORF10
|
[NCBI]
|
8.48492e-05
|
|
|
pallister w syndrome
|
[NCBI]
|
8.40868e-05
|
|
|
polysyndactyly with cardiac malformation
|
[NCBI]
|
8.40868e-05
|
|
|
devriendt syndrome
|
[NCBI]
|
8.40868e-05
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
8.40868e-05
|
|
|
MRXS14
|
[NCBI]
|
8.40868e-05
|
|
|
hemifacial myohyperplasia
|
[NCBI]
|
8.40868e-05
|
|
|
DGS
|
[NCBI]
|
7.61064e-05
|
|
|
costello syndrome
|
[NCBI]
|
7.57022e-05
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
7.56273e-05
|
|
|
otofaciocervical syndrome
|
[NCBI]
|
7.56273e-05
|
|
|
WBS
|
[NCBI]
|
7.2108e-05
|
|
|
UPF3B
|
[NCBI]
|
7.10704e-05
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
7.01415e-05
|
|
|
branchial arch syndrome, x-linked
|
[NCBI]
|
7.01415e-05
|
|
|
ED3
|
[NCBI]
|
6.60682e-05
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
6.60682e-05
|
|
|
DSCAM
|
[NCBI]
|
6.58708e-05
|
|
|
loose anagen hair syndrome
|
[NCBI]
|
6.28267e-05
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
6.28267e-05
|
|
|
FAM20C
|
[NCBI]
|
6.24949e-05
|
|
|
GLI2
|
[NCBI]
|
6.24949e-05
|
|
|
FKBP6
|
[NCBI]
|
6.24949e-05
|
|
|
CCD
|
[NCBI]
|
6.14659e-05
|
|
|
TTDN1
|
[NCBI]
|
5.79854e-05
|
|
|
WARBM
|
[NCBI]
|
5.78337e-05
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
5.78337e-05
|
|
|
SUZ12
|
[NCBI]
|
5.63228e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
5.58247e-05
|
|
|
muenke syndrome
|
[NCBI]
|
5.40424e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
5.40424e-05
|
|
|
char syndrome
|
[NCBI]
|
5.40424e-05
|
|
|
JWS
|
[NCBI]
|
5.24412e-05
|
|
|
RAPSN
|
[NCBI]
|
5.15571e-05
|
|
|
TFAP2B
|
[NCBI]
|
5.15571e-05
|
|
|
PPD2
|
[NCBI]
|
5.09881e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
5.09881e-05
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
4.96583e-05
|
|
|
SYNS1
|
[NCBI]
|
4.96583e-05
|
|
|
SHH
|
[NCBI]
|
4.9385e-05
|
|
|
KCNJ2
|
[NCBI]
|
4.90631e-05
|
|
|
SYM1
|
[NCBI]
|
4.84327e-05
|
|
|
ZEB2
|
[NCBI]
|
4.83544e-05
|
|
|
SOX2
|
[NCBI]
|
4.76931e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
4.72964e-05
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
4.72964e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
4.72964e-05
|
|
|
NSD1
|
[NCBI]
|
4.70733e-05
|
|
|
HFM
|
[NCBI]
|
4.64314e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
4.62375e-05
|
|
|
NFNS
|
[NCBI]
|
4.62375e-05
|
|
|
MCOPS3
|
[NCBI]
|
4.52463e-05
|
|
|
DHCR7
|
[NCBI]
|
4.49227e-05
|
|
|
EYA1
|
[NCBI]
|
4.49227e-05
|
|
|
NOG
|
[NCBI]
|
4.49227e-05
|
|
|
PTPN11
|
[NCBI]
|
4.44511e-05
|
|
|
MVA
|
[NCBI]
|
4.43148e-05
|
|
|
JBS
|
[NCBI]
|
4.34363e-05
|
|
|
TWIST1
|
[NCBI]
|
4.27623e-05
|
|
|
BCNS
|
[NCBI]
|
4.05398e-05
|
|
|
BGS
|
[NCBI]
|
3.90175e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
3.90175e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
3.77905e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
3.61196e-05
|
|
|
BOR1
|
[NCBI]
|
3.51014e-05
|
|
|
fraser syndrome
|
[NCBI]
|
3.51014e-05
|
|
|
PKS
|
[NCBI]
|
3.46173e-05
|
|
|
PAX3
|
[NCBI]
|
3.42405e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
3.36944e-05
|
|
|
ODDD
|
[NCBI]
|
3.32538e-05
|
|
|
MDLS
|
[NCBI]
|
3.32538e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
3.32538e-05
|
|
|
IDUA
|
[NCBI]
|
3.28792e-05
|
|
|
TBS
|
[NCBI]
|
3.2826e-05
|
|
|
apert syndrome
|
[NCBI]
|
3.2826e-05
|
|
|
charge syndrome
|
[NCBI]
|
3.24105e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
3.24105e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
3.20064e-05
|
|
|
STL1
|
[NCBI]
|
3.20064e-05
|
|
|
FGFR1
|
[NCBI]
|
3.08502e-05
|
|
|
GCPS
|
[NCBI]
|
2.97942e-05
|
|
|
SCS
|
[NCBI]
|
2.97942e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
2.70118e-05
|
|
|
FGFR2
|
[NCBI]
|
2.64406e-05
|
|
|
WS1
|
[NCBI]
|
2.51767e-05
|
|
|
VWS
|
[NCBI]
|
2.49336e-05
|
|
|
hurler syndrome
|
[NCBI]
|
2.40026e-05
|
|
|
TCOF
|
[NCBI]
|
2.37796e-05
|
|
|
ALGS1
|
[NCBI]
|
2.31321e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
2.31321e-05
|
|
|
HGPS
|
[NCBI]
|
2.19255e-05
|
|
|
FGFR3
|
[NCBI]
|
2.13528e-05
|
|
|
NS1
|
[NCBI]
|
1.82778e-05
|
|
|
NF1
|
[NCBI]
|
1.8022e-05
|
|
|
SMS
|
[NCBI]
|
1.71805e-05
|
|
|
BBS
|
[NCBI]
|
1.4608e-05
|
|
|
CPI
|
[NCBI]
|
8.80686e-06
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
7.15356e-06
|
|
|
PWS
|
[NCBI]
|
1.49212e-08
|
|