|
OMIM |
Link |
Information gain |
01 |
|
dubowitz syndrome
|
[NCBI]
|
0.00289851
|
|
|
FRNS
|
[NCBI]
|
0.00221247
|
|
|
POADS
|
[NCBI]
|
0.00173045
|
|
|
GCPS
|
[NCBI]
|
0.00119201
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00100353
|
|
|
umbilicus, familial flat
|
[NCBI]
|
0.000997095
|
|
|
pseudohermaphroditism, female, with skeletal anomalies
|
[NCBI]
|
0.000997095
|
|
|
HFH
|
[NCBI]
|
0.000997095
|
|
|
ZLS
|
[NCBI]
|
0.000945855
|
|
|
HFM
|
[NCBI]
|
0.00091985
|
|
|
SRS
|
[NCBI]
|
0.000866515
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000688734
|
|
|
prognathism, mandibular
|
[NCBI]
|
0.000688734
|
|
|
osteodysplasia, familial, anderson type
|
[NCBI]
|
0.000688734
|
|
|
scholte syndrome
|
[NCBI]
|
0.000688734
|
|
|
CFNS
|
[NCBI]
|
0.000674507
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000662116
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.000573984
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000573984
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000573984
|
|
|
HSS
|
[NCBI]
|
0.000558866
|
|
|
ACLS
|
[NCBI]
|
0.00053978
|
|
|
FMD
|
[NCBI]
|
0.000515438
|
|
|
peho syndrome
|
[NCBI]
|
0.000500389
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.000500389
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000500389
|
|
|
cenani syndactylism
|
[NCBI]
|
0.000500389
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.000446339
|
|
|
opsismodysplasia
|
[NCBI]
|
0.000446339
|
|
|
RNS
|
[NCBI]
|
0.000443478
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000434782
|
|
|
CMDR
|
[NCBI]
|
0.000403802
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000403802
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000403802
|
|
|
MCOPS6
|
[NCBI]
|
0.000403802
|
|
|
CPI
|
[NCBI]
|
0.000387405
|
|
|
GO
|
[NCBI]
|
0.000368872
|
|
|
STHAG4
|
[NCBI]
|
0.000368872
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000368872
|
|
|
hairy elbows
|
[NCBI]
|
0.000368872
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000368241
|
|
|
CF
|
[NCBI]
|
0.000340335
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.00033935
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.00033935
|
|
|
short syndrome
|
[NCBI]
|
0.000328384
|
|
|
MCOPS1
|
[NCBI]
|
0.000313869
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000313869
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000313869
|
|
|
HTC1
|
[NCBI]
|
0.000313869
|
|
|
larsen-like syndrome, lethal type
|
[NCBI]
|
0.000308764
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000301759
|
|
|
HPE2
|
[NCBI]
|
0.00027324
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000271692
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000271692
|
|
|
sotos syndrome
|
[NCBI]
|
0.000266102
|
|
|
CDD
|
[NCBI]
|
0.000254783
|
|
|
CMDD
|
[NCBI]
|
0.000240584
|
|
|
arhinia, choanal atresia, and microphthalmia
|
[NCBI]
|
0.000230453
|
|
|
ZS
|
[NCBI]
|
0.000220512
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000213434
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000209791
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000201046
|
|
|
HRD
|
[NCBI]
|
0.000190718
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00018607
|
|
|
FGD1
|
[NCBI]
|
0.000183291
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.000182144
|
|
|
TCOF
|
[NCBI]
|
0.000159907
|
|
|
growth deficiency and mental retardation with facial dysmorphism
|
[NCBI]
|
0.000154318
|
|
|
harrod syndrome
|
[NCBI]
|
0.000154318
|
|
|
spondyloepimetaphyseal dysplasia with hypotrichosis
|
[NCBI]
|
0.000154318
|
|
|
mental retardation syndrome, belgian type
|
[NCBI]
|
0.000154318
|
|
|
aurocephalosyndactyly
|
[NCBI]
|
0.000154318
|
|
|
renal and mullerian duct hypoplasia
|
[NCBI]
|
0.000154318
|
|
|
hypophosphatemia, renal, with intracerebral calcifications
|
[NCBI]
|
0.000154318
|
|
|
HPE7
|
[NCBI]
|
0.000154318
|
|
|
oculomaxillofacial dysplasia with oblique facial clefts
|
[NCBI]
|
0.000154318
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
0.000154318
|
|
|
fryns macrocephaly
|
[NCBI]
|
0.000154318
|
|
|
craniodiaphyseal dysplasia, dominant
|
[NCBI]
|
0.000154318
|
|
|
sonoda syndrome
|
[NCBI]
|
0.000154318
|
|
|
fibromatosis, gingival, with distinctive facies
|
[NCBI]
|
0.000154318
|
|
|
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
|
[NCBI]
|
0.000154318
|
|
|
simosa craniofacial syndrome
|
[NCBI]
|
0.000154318
|
|
|
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
|
[NCBI]
|
0.000154318
|
|
|
russell-silver syndrome, x-linked
|
[NCBI]
|
0.000154318
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
0.000154318
|
|
|
mental retardation, x-linked, with craniofacial dysmorphism
|
[NCBI]
|
0.000154318
|
|
|
c syndrome
|
[NCBI]
|
0.000151972
|
|
|
OPD2
|
[NCBI]
|
0.000147548
|
|
|
SEC23A
|
[NCBI]
|
0.000146267
|
|
|
LRS1
|
[NCBI]
|
0.000136128
|
|
|
MBS
|
[NCBI]
|
0.000132315
|
|
|
CCD
|
[NCBI]
|
0.000125201
|
|
|
DWS
|
[NCBI]
|
0.0001252
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000118492
|
|
|
fraser syndrome
|
[NCBI]
|
0.000116396
|
|
|
crane-heise syndrome
|
[NCBI]
|
0.000115162
|
|
|
CLSD
|
[NCBI]
|
0.000115162
|
|
|
devriendt syndrome
|
[NCBI]
|
0.000115162
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
|
[NCBI]
|
0.000115162
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
0.000115162
|
|
|
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
|
[NCBI]
|
0.000115162
|
|
|
OAFNS
|
[NCBI]
|
0.000115162
|
|
|
codas syndrome
|
[NCBI]
|
0.000115162
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
0.000115162
|
|
|
velofacioskeletal syndrome
|
[NCBI]
|
0.000115162
|
|
|
SGBS1
|
[NCBI]
|
0.000114104
|
|
|
COH1
|
[NCBI]
|
0.000111911
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.000107005
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000105851
|
|
|
PHS
|
[NCBI]
|
0.000103984
|
|
|
acrogeria, gottron type
|
[NCBI]
|
0.00010046
|
|
|
ichthyosis--cheek--eyebrow syndrome
|
[NCBI]
|
0.00010046
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
0.00010046
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
0.00010046
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
0.00010046
|
|
|
macrocephaly
|
[NCBI]
|
0.00010046
|
|
|
aarskog syndrome
|
[NCBI]
|
0.00010046
|
|
|
aplasia cutis congenita with epibulbar dermoids
|
[NCBI]
|
0.00010046
|
|
|
TBS
|
[NCBI]
|
9.87686e-05
|
|
|
GSC
|
[NCBI]
|
9.20703e-05
|
|
|
CDHS
|
[NCBI]
|
9.09544e-05
|
|
|
desmosterolosis
|
[NCBI]
|
9.09544e-05
|
|
|
gracile bone dysplasia
|
[NCBI]
|
9.09544e-05
|
|
|
native american myopathy
|
[NCBI]
|
9.09544e-05
|
|
|
ramon syndrome
|
[NCBI]
|
9.09544e-05
|
|
|
TRPS2
|
[NCBI]
|
8.84073e-05
|
|
|
DA2B
|
[NCBI]
|
8.39177e-05
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
8.39177e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
8.39177e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
8.39177e-05
|
|
|
peters anomaly
|
[NCBI]
|
8.39177e-05
|
|
|
RCDP2
|
[NCBI]
|
8.39177e-05
|
|
|
char syndrome
|
[NCBI]
|
8.39177e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
8.39177e-05
|
|
|
ALGS1
|
[NCBI]
|
7.88057e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
7.83349e-05
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
7.83349e-05
|
|
|
CLS
|
[NCBI]
|
7.66874e-05
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
7.37128e-05
|
|
|
radioulnar synostosis
|
[NCBI]
|
7.37128e-05
|
|
|
marshall-smith syndrome
|
[NCBI]
|
7.37128e-05
|
|
|
GLI3
|
[NCBI]
|
6.66195e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
6.63449e-05
|
|
|
AIH2
|
[NCBI]
|
6.63449e-05
|
|
|
HSCR2
|
[NCBI]
|
6.63449e-05
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
6.63449e-05
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
6.33124e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
6.33124e-05
|
|
|
MAS
|
[NCBI]
|
6.26211e-05
|
|
|
CDLS1
|
[NCBI]
|
6.26211e-05
|
|
|
AOS
|
[NCBI]
|
6.07879e-05
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
6.07879e-05
|
|
|
FGD2
|
[NCBI]
|
5.86124e-05
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
5.81395e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
5.81395e-05
|
|
|
HPE3
|
[NCBI]
|
5.81395e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
5.81395e-05
|
|
|
WGN1
|
[NCBI]
|
5.81395e-05
|
|
|
CDG2C
|
[NCBI]
|
5.58978e-05
|
|
|
weaver syndrome
|
[NCBI]
|
5.38384e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
5.38384e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
5.19351e-05
|
|
|
YPEL1
|
[NCBI]
|
4.86308e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
4.85172e-05
|
|
|
ABS
|
[NCBI]
|
4.69718e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
4.69718e-05
|
|
|
SMMCI
|
[NCBI]
|
4.55191e-05
|
|
|
SLC35D1
|
[NCBI]
|
4.48646e-05
|
|
|
RDH10
|
[NCBI]
|
4.48646e-05
|
|
|
BARX2
|
[NCBI]
|
4.48646e-05
|
|
|
PRRX2
|
[NCBI]
|
4.48646e-05
|
|
|
MADA
|
[NCBI]
|
4.41494e-05
|
|
|
JBS
|
[NCBI]
|
4.41494e-05
|
|
|
masa syndrome
|
[NCBI]
|
4.41494e-05
|
|
|
OFD1
|
[NCBI]
|
4.28543e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
4.28543e-05
|
|
|
CNTN2
|
[NCBI]
|
4.24196e-05
|
|
|
MKKS
|
[NCBI]
|
4.16268e-05
|
|
|
SMS
|
[NCBI]
|
4.11614e-05
|
|
|
neuroblastoma stage 4s gene
|
[NCBI]
|
4.0602e-05
|
|
|
PMX1
|
[NCBI]
|
4.0602e-05
|
|
|
PFM
|
[NCBI]
|
4.04607e-05
|
|
|
MRXHF1
|
[NCBI]
|
4.04607e-05
|
|
|
ATRX
|
[NCBI]
|
3.93506e-05
|
|
|
FAM20C
|
[NCBI]
|
3.9154e-05
|
|
|
SIX6
|
[NCBI]
|
3.9154e-05
|
|
|
charge syndrome
|
[NCBI]
|
3.82919e-05
|
|
|
RBS
|
[NCBI]
|
3.72805e-05
|
|
|
DA2A
|
[NCBI]
|
3.63127e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
3.63127e-05
|
|
|
ANKH
|
[NCBI]
|
3.60194e-05
|
|
|
RIEG1
|
[NCBI]
|
3.53853e-05
|
|
|
RAPSN
|
[NCBI]
|
3.52197e-05
|
|
|
HOXA7
|
[NCBI]
|
3.45004e-05
|
|
|
NSD1
|
[NCBI]
|
3.45004e-05
|
|
|
CSF2RA
|
[NCBI]
|
3.45004e-05
|
|
|
GNPAT
|
[NCBI]
|
3.38469e-05
|
|
|
MSX1
|
[NCBI]
|
3.38469e-05
|
|
|
PAX1
|
[NCBI]
|
3.38469e-05
|
|
|
SHH
|
[NCBI]
|
3.31562e-05
|
|
|
PKS
|
[NCBI]
|
3.2818e-05
|
|
|
CDPX2
|
[NCBI]
|
3.2818e-05
|
|
|
PTCH1
|
[NCBI]
|
3.17045e-05
|
|
|
HHF1
|
[NCBI]
|
3.12627e-05
|
|
|
ACY1
|
[NCBI]
|
3.12562e-05
|
|
|
FOXC1
|
[NCBI]
|
3.04362e-05
|
|
|
KCNJ11
|
[NCBI]
|
2.97009e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
2.91276e-05
|
|
|
SCS
|
[NCBI]
|
2.91276e-05
|
|
|
MDLS
|
[NCBI]
|
2.84627e-05
|
|
|
MN
|
[NCBI]
|
2.84254e-05
|
|
|
NBS1
|
[NCBI]
|
2.78643e-05
|
|
|
WS1
|
[NCBI]
|
2.78191e-05
|
|
|
down syndrome
|
[NCBI]
|
2.78191e-05
|
|
|
HMI
|
[NCBI]
|
2.70982e-05
|
|
|
RSTS
|
[NCBI]
|
2.65912e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.64069e-05
|
|
|
MHS1
|
[NCBI]
|
2.48837e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.4347e-05
|
|
|
GSR
|
[NCBI]
|
2.3705e-05
|
|
|
FLNA
|
[NCBI]
|
2.34122e-05
|
|
|
PAX3
|
[NCBI]
|
2.32702e-05
|
|
|
NS1
|
[NCBI]
|
2.28241e-05
|
|
|
LBR
|
[NCBI]
|
2.22278e-05
|
|
|
ACP5
|
[NCBI]
|
2.21536e-05
|
|
|
CD
|
[NCBI]
|
2.18754e-05
|
|
|
SPARC
|
[NCBI]
|
2.11122e-05
|
|
|
TD1
|
[NCBI]
|
2.05416e-05
|
|
|
FGFR2
|
[NCBI]
|
1.84883e-05
|
|
|
ABCC8
|
[NCBI]
|
1.80791e-05
|
|
|
CES
|
[NCBI]
|
1.74284e-05
|
|
|
RBP1
|
[NCBI]
|
1.70386e-05
|
|
|
BGLAP
|
[NCBI]
|
1.61879e-05
|
|
|
RB1
|
[NCBI]
|
1.51722e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
1.51329e-05
|
|
|
WHS
|
[NCBI]
|
1.0129e-05
|
|
|
PTHLH
|
[NCBI]
|
6.79116e-06
|
|
|
PWS
|
[NCBI]
|
6.65629e-06
|
|
|
SLOS
|
[NCBI]
|
5.3639e-06
|
|
|
GNRH1
|
[NCBI]
|
4.96499e-06
|
|
|
SPP1
|
[NCBI]
|
4.53615e-06
|
|
|
ADA
|
[NCBI]
|
3.83793e-06
|
|
|
AFP
|
[NCBI]
|
2.29187e-06
|
|
|
ALD
|
[NCBI]
|
1.41238e-06
|
|
|
NGFB
|
[NCBI]
|
1.39086e-06
|
|
|
EGF
|
[NCBI]
|
1.36085e-06
|
|
|
BWS
|
[NCBI]
|
1.57482e-07
|
|
|
AS
|
[NCBI]
|
6.17329e-08
|
|