|
OMIM |
Link |
Information gain |
01 |
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.00386884
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.00376503
|
|
|
acrodysostosis
|
[NCBI]
|
0.00322016
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00247779
|
|
|
FGFR2
|
[NCBI]
|
0.0024643
|
|
|
hypomandibular faciocranial dysostosis
|
[NCBI]
|
0.00166522
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.00123085
|
|
|
crouzon syndrome
|
[NCBI]
|
0.00116059
|
|
|
POADS
|
[NCBI]
|
0.000796229
|
|
|
pfeiffer syndrome
|
[NCBI]
|
0.000545166
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000532264
|
|
|
palpebral coloboma-lipoma syndrome
|
[NCBI]
|
0.000532264
|
|
|
OFD3
|
[NCBI]
|
0.000532264
|
|
|
AFD1
|
[NCBI]
|
0.000506599
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.00045973
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000440694
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.000440694
|
|
|
MKS2
|
[NCBI]
|
0.000409827
|
|
|
OSCS
|
[NCBI]
|
0.000409827
|
|
|
GCY
|
[NCBI]
|
0.000384291
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000384291
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
0.000314428
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000311958
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000311958
|
|
|
CFNS
|
[NCBI]
|
0.000306136
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000303258
|
|
|
JWS
|
[NCBI]
|
0.000302763
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
0.000283945
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000274795
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.000274795
|
|
|
ACG1A
|
[NCBI]
|
0.000264347
|
|
|
FGFR3
|
[NCBI]
|
0.000245072
|
|
|
HSS
|
[NCBI]
|
0.000244676
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000228759
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.000221714
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000221711
|
|
|
telecanthus
|
[NCBI]
|
0.000209502
|
|
|
GCPS
|
[NCBI]
|
0.000201676
|
|
|
craniotelencephalic dysplasia
|
[NCBI]
|
0.000178572
|
|
|
TD1
|
[NCBI]
|
0.000164726
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
0.000164607
|
|
|
ZFP37
|
[NCBI]
|
0.000157743
|
|
|
CDD
|
[NCBI]
|
0.000155028
|
|
|
DA2A
|
[NCBI]
|
0.000149267
|
|
|
SRS
|
[NCBI]
|
0.000148739
|
|
|
acrofacial dysostosis syndrome of rodriguez
|
[NCBI]
|
0.00014174
|
|
|
MKS1
|
[NCBI]
|
0.000122769
|
|
|
CF
|
[NCBI]
|
0.000113694
|
|
|
pycnodysostosis
|
[NCBI]
|
0.000108119
|
|
|
FGD1
|
[NCBI]
|
0.000108027
|
|
|
frontonasal dysplasia with alar clefts
|
[NCBI]
|
0.000104693
|
|
|
gastrocutaneous syndrome
|
[NCBI]
|
0.000104693
|
|
|
facial abnormalities, kyphoscoliosis, and mental retardation
|
[NCBI]
|
0.000104693
|
|
|
acrofacial dysostosis, palagonia type
|
[NCBI]
|
0.000104693
|
|
|
oculomaxillofacial dysplasia with oblique facial clefts
|
[NCBI]
|
0.000104693
|
|
|
acrocraniofacial dysostosis
|
[NCBI]
|
0.000104693
|
|
|
ABS
|
[NCBI]
|
9.10926e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
9.00182e-05
|
|
|
ODDD
|
[NCBI]
|
8.51447e-05
|
|
|
apert syndrome
|
[NCBI]
|
8.42563e-05
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
8.22454e-05
|
|
|
kleeblattschaedel syndrome
|
[NCBI]
|
8.22454e-05
|
|
|
pierre robin syndrome and oligodactyly
|
[NCBI]
|
8.22454e-05
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
8.22454e-05
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
8.22454e-05
|
|
|
COH1
|
[NCBI]
|
7.94084e-05
|
|
|
SCS
|
[NCBI]
|
7.79502e-05
|
|
|
BCNS
|
[NCBI]
|
7.38045e-05
|
|
|
acrocephalopolydactylous dysplasia
|
[NCBI]
|
7.37886e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
7.37886e-05
|
|
|
craniofacial dysostosis with diaphyseal hyperplasia
|
[NCBI]
|
7.37886e-05
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
7.37886e-05
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
6.83056e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
6.83056e-05
|
|
|
TCOF
|
[NCBI]
|
6.53568e-05
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
6.4235e-05
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
6.4235e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
6.09963e-05
|
|
|
AIHHT
|
[NCBI]
|
6.09963e-05
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
5.83072e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
5.83072e-05
|
|
|
OGD
|
[NCBI]
|
5.40025e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
5.22229e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
5.06245e-05
|
|
|
wagr syndrome
|
[NCBI]
|
4.91741e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
4.8838e-05
|
|
|
CRS1
|
[NCBI]
|
4.7847e-05
|
|
|
three m syndrome
|
[NCBI]
|
4.7847e-05
|
|
|
ACG2
|
[NCBI]
|
4.66241e-05
|
|
|
GATA3
|
[NCBI]
|
4.45989e-05
|
|
|
marshall syndrome
|
[NCBI]
|
4.44344e-05
|
|
|
OPD2
|
[NCBI]
|
4.34459e-05
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
4.34459e-05
|
|
|
CMDD
|
[NCBI]
|
4.00277e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
3.92808e-05
|
|
|
TCOF1
|
[NCBI]
|
3.84124e-05
|
|
|
weaver syndrome
|
[NCBI]
|
3.78894e-05
|
|
|
RIEG1
|
[NCBI]
|
3.54424e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
3.48886e-05
|
|
|
OKS
|
[NCBI]
|
3.43549e-05
|
|
|
fraser syndrome
|
[NCBI]
|
3.33421e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
3.23948e-05
|
|
|
RBS
|
[NCBI]
|
3.06676e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
2.87653e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
2.55932e-05
|
|
|
FGFR1
|
[NCBI]
|
2.49168e-05
|
|
|
sotos syndrome
|
[NCBI]
|
2.47685e-05
|
|
|
WS1
|
[NCBI]
|
2.34969e-05
|
|
|
HGPS
|
[NCBI]
|
2.02867e-05
|
|
|
SLS
|
[NCBI]
|
1.9374e-05
|
|
|
NS1
|
[NCBI]
|
1.66993e-05
|
|
|
ZS
|
[NCBI]
|
1.39591e-05
|
|
|
SHH
|
[NCBI]
|
1.24033e-05
|
|
|
SLOS
|
[NCBI]
|
6.59283e-06
|
|
|
AS
|
[NCBI]
|
2.85183e-06
|
|
|
PTH
|
[NCBI]
|
6.67878e-07
|
|