|
OMIM |
Link |
Information gain |
01 |
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.00663212
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.00567329
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
0.00443307
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.00437095
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.0035794
|
|
|
SCDO1
|
[NCBI]
|
0.00317692
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
0.00252791
|
|
|
ATD1
|
[NCBI]
|
0.0025205
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.00145678
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.00114865
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000849683
|
|
|
IS1
|
[NCBI]
|
0.00068531
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.000675971
|
|
|
hypoadrenocorticism, familial
|
[NCBI]
|
0.000675971
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000502829
|
|
|
TLPD
|
[NCBI]
|
0.000472726
|
|
|
OFD4
|
[NCBI]
|
0.000466912
|
|
|
acrodysostosis
|
[NCBI]
|
0.000466912
|
|
|
BCNS
|
[NCBI]
|
0.000464994
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
0.000436402
|
|
|
mohr syndrome
|
[NCBI]
|
0.000386605
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000299928
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000293305
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.000286611
|
|
|
RA
|
[NCBI]
|
0.000228707
|
|
|
DLL3
|
[NCBI]
|
0.000180632
|
|
|
thoracomelic dysplasia
|
[NCBI]
|
0.000178497
|
|
|
microcephaly, severe, with skeletal anomalies including posterior rib-gap defects
|
[NCBI]
|
0.000178497
|
|
|
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
|
[NCBI]
|
0.000178497
|
|
|
dwarfism with tall vertebrae
|
[NCBI]
|
0.000178497
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
0.000178497
|
|
|
cervical rib
|
[NCBI]
|
0.000139271
|
|
|
NSX
|
[NCBI]
|
0.000139271
|
|
|
thoracopelvic dysostosis
|
[NCBI]
|
0.000139271
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
0.000139271
|
|
|
bronchomalacia
|
[NCBI]
|
0.000124498
|
|
|
SDS
|
[NCBI]
|
0.00012075
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
0.000114922
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
0.000114922
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
0.000114922
|
|
|
pneumothorax, primary spontaneous
|
[NCBI]
|
0.000107815
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000107815
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000102162
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
0.000102162
|
|
|
three m syndrome
|
[NCBI]
|
9.34601e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
8.99611e-05
|
|
|
RNS
|
[NCBI]
|
8.99611e-05
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
8.68583e-05
|
|
|
vater association
|
[NCBI]
|
8.68583e-05
|
|
|
NSHPT
|
[NCBI]
|
8.40721e-05
|
|
|
FFS
|
[NCBI]
|
8.15447e-05
|
|
|
OPD2
|
[NCBI]
|
7.71029e-05
|
|
|
DRRS
|
[NCBI]
|
7.71029e-05
|
|
|
FMD
|
[NCBI]
|
7.71029e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
7.51293e-05
|
|
|
MFS
|
[NCBI]
|
6.99459e-05
|
|
|
HFM
|
[NCBI]
|
6.90391e-05
|
|
|
AFD1
|
[NCBI]
|
6.84319e-05
|
|
|
MNS
|
[NCBI]
|
6.69918e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
6.56264e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
6.30921e-05
|
|
|
ODDD
|
[NCBI]
|
6.19117e-05
|
|
|
EVC
|
[NCBI]
|
5.97008e-05
|
|
|
DA2A
|
[NCBI]
|
5.86627e-05
|
|
|
AHC
|
[NCBI]
|
5.48865e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
5.31905e-05
|
|
|
PTH
|
[NCBI]
|
5.23598e-05
|
|
|
WS1
|
[NCBI]
|
4.9395e-05
|
|
|
CRMO
|
[NCBI]
|
4.80264e-05
|
|
|
TCOF
|
[NCBI]
|
4.61077e-05
|
|
|
HGPS
|
[NCBI]
|
4.43307e-05
|
|
|
HOXB2
|
[NCBI]
|
4.30722e-05
|
|
|
FAM20C
|
[NCBI]
|
4.16236e-05
|
|
|
DACH1
|
[NCBI]
|
4.16236e-05
|
|
|
TD1
|
[NCBI]
|
4.11321e-05
|
|
|
AHO
|
[NCBI]
|
4.0639e-05
|
|
|
CPZ
|
[NCBI]
|
4.04192e-05
|
|
|
SIM2
|
[NCBI]
|
3.93883e-05
|
|
|
LYZ
|
[NCBI]
|
3.69669e-05
|
|
|
MAS
|
[NCBI]
|
3.50448e-05
|
|
|
CDLS1
|
[NCBI]
|
3.50448e-05
|
|
|
ACH
|
[NCBI]
|
3.42963e-05
|
|
|
DLL1
|
[NCBI]
|
3.32967e-05
|
|
|
TCOF1
|
[NCBI]
|
3.28979e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
3.25201e-05
|
|
|
LFNG
|
[NCBI]
|
3.03211e-05
|
|
|
SOX9
|
[NCBI]
|
2.76486e-05
|
|
|
PTHLH
|
[NCBI]
|
2.71107e-05
|
|
|
GNAS
|
[NCBI]
|
2.53011e-05
|
|
|
GSC
|
[NCBI]
|
2.50398e-05
|
|
|
COL1A1
|
[NCBI]
|
2.46651e-05
|
|
|
SPARC
|
[NCBI]
|
2.35433e-05
|
|
|
DFSP
|
[NCBI]
|
2.33994e-05
|
|
|
SHH
|
[NCBI]
|
2.12152e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
1.83992e-05
|
|
|
NF1
|
[NCBI]
|
1.67693e-05
|
|
|
EGF
|
[NCBI]
|
1.09557e-05
|
|
|
GAL
|
[NCBI]
|
1.06302e-05
|
|
|
CVID
|
[NCBI]
|
1.00059e-05
|
|
|
GDNF
|
[NCBI]
|
5.80263e-06
|
|
|
ADA
|
[NCBI]
|
5.70821e-06
|
|
|
VEGF
|
[NCBI]
|
3.28157e-06
|
|
|
CEACAM5
|
[NCBI]
|
2.37907e-06
|
|
|
NGFB
|
[NCBI]
|
1.45369e-06
|
|