|
OMIM |
Link |
Information gain |
01 |
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.0211705
|
|
|
hypertelorism, teebi type
|
[NCBI]
|
0.00249243
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.00207383
|
|
|
CMDR
|
[NCBI]
|
0.000960913
|
|
|
membranous cranial ossification, delayed
|
[NCBI]
|
0.000588919
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.00050758
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.00050758
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.00050758
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000455084
|
|
|
trichohepatoenteric syndrome
|
[NCBI]
|
0.000455084
|
|
|
opitz syndrome
|
[NCBI]
|
0.000446262
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.000360158
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000338549
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.000338549
|
|
|
GCPS
|
[NCBI]
|
0.000304722
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000303197
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000288377
|
|
|
crouzon syndrome
|
[NCBI]
|
0.000284499
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
0.000280072
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000257162
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000248876
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000206721
|
|
|
aarskog syndrome
|
[NCBI]
|
0.000191944
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
0.000191944
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
0.00017797
|
|
|
CFNS
|
[NCBI]
|
0.000176938
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000175276
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
0.000168382
|
|
|
NLS
|
[NCBI]
|
0.00016277
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000157652
|
|
|
MID1
|
[NCBI]
|
0.000145836
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000145836
|
|
|
LRP2
|
[NCBI]
|
0.000130636
|
|
|
GLI3
|
[NCBI]
|
0.000122134
|
|
|
HNA
|
[NCBI]
|
0.000111652
|
|
|
hypertelorism and tetralogy of fallot
|
[NCBI]
|
0.000111353
|
|
|
bowing of long bones, asymmetric and symmetric
|
[NCBI]
|
0.000111353
|
|
|
frontonasal dysplasia with alar clefts
|
[NCBI]
|
0.000111353
|
|
|
nasal bones, absence of
|
[NCBI]
|
0.000111353
|
|
|
gastrocutaneous syndrome
|
[NCBI]
|
0.000111353
|
|
|
hirschsprung disease with polydactyly, renal agenesis, and deafness
|
[NCBI]
|
0.000111353
|
|
|
hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss
|
[NCBI]
|
0.000111353
|
|
|
ACLS
|
[NCBI]
|
0.00010898
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.00010315
|
|
|
PKS
|
[NCBI]
|
0.00010109
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
9.55599e-05
|
|
|
polysyndactyly with cardiac malformation
|
[NCBI]
|
8.88971e-05
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
8.88971e-05
|
|
|
external auditory canal, bilateral atresia of, with congenital vertical talus
|
[NCBI]
|
8.88971e-05
|
|
|
WS1
|
[NCBI]
|
8.11703e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
8.04317e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
8.04317e-05
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
8.04317e-05
|
|
|
CDHS
|
[NCBI]
|
7.49402e-05
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
7.49402e-05
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
7.49402e-05
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
7.49402e-05
|
|
|
craniosynostosis with ectopia lentis
|
[NCBI]
|
7.49402e-05
|
|
|
barber-say syndrome
|
[NCBI]
|
7.0861e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
7.0861e-05
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
7.0861e-05
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
7.0861e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
6.76137e-05
|
|
|
MRXSL
|
[NCBI]
|
6.76137e-05
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
6.76137e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
6.76137e-05
|
|
|
NS1
|
[NCBI]
|
6.62094e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
6.4916e-05
|
|
|
EFNB1
|
[NCBI]
|
6.35753e-05
|
|
|
hypospadias, autosomal
|
[NCBI]
|
6.2609e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
5.8806e-05
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
5.7199e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
5.57401e-05
|
|
|
WZS
|
[NCBI]
|
5.44044e-05
|
|
|
feingold syndrome
|
[NCBI]
|
5.20308e-05
|
|
|
OPD2
|
[NCBI]
|
4.9969e-05
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
4.9969e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
4.90317e-05
|
|
|
CMDD
|
[NCBI]
|
4.65165e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
4.5761e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
4.5761e-05
|
|
|
weaver syndrome
|
[NCBI]
|
4.43525e-05
|
|
|
PAX3
|
[NCBI]
|
4.40959e-05
|
|
|
LCA1
|
[NCBI]
|
4.02428e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
3.97366e-05
|
|
|
ODDD
|
[NCBI]
|
3.78656e-05
|
|
|
apert syndrome
|
[NCBI]
|
3.74321e-05
|
|
|
RBS
|
[NCBI]
|
3.70107e-05
|
|
|
PHS
|
[NCBI]
|
3.47052e-05
|
|
|
HNPP
|
[NCBI]
|
3.12351e-05
|
|
|
sotos syndrome
|
[NCBI]
|
3.09571e-05
|
|
|
CLS
|
[NCBI]
|
2.86719e-05
|
|
|
ALGS1
|
[NCBI]
|
2.75454e-05
|
|
|
WHS
|
[NCBI]
|
2.36178e-05
|
|
|
HD
|
[NCBI]
|
2.08325e-05
|
|
|
BCNS
|
[NCBI]
|
1.46935e-05
|
|
|
DGS
|
[NCBI]
|
1.38648e-05
|
|
|
BWS
|
[NCBI]
|
7.1895e-06
|
|
|
SRS
|
[NCBI]
|
6.09624e-06
|
|