|
OMIM |
Link |
Information gain |
01 |
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00277302
|
|
|
BWCNS
|
[NCBI]
|
0.00219565
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.00110591
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
0.000924199
|
|
|
earlobes, thickened, with conductive deafness from incudostapedial abnormalities
|
[NCBI]
|
0.000603231
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000479916
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000479916
|
|
|
hypoadrenocorticism, familial
|
[NCBI]
|
0.000454087
|
|
|
MCOPS6
|
[NCBI]
|
0.000454087
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000395833
|
|
|
POADS
|
[NCBI]
|
0.000354149
|
|
|
mohr syndrome
|
[NCBI]
|
0.000342541
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000342541
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000342541
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.0003318
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00030372
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.000260353
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000242958
|
|
|
JBTS1
|
[NCBI]
|
0.000242958
|
|
|
limb deficiencies, distal, with micrognathia
|
[NCBI]
|
0.000239563
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000209596
|
|
|
STL1
|
[NCBI]
|
0.000188689
|
|
|
aglossia-adactylia
|
[NCBI]
|
0.000177692
|
|
|
catel-manzke syndrome
|
[NCBI]
|
0.00016235
|
|
|
FFS
|
[NCBI]
|
0.000152014
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000150981
|
|
|
WZS
|
[NCBI]
|
0.000149196
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.000144271
|
|
|
clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia
|
[NCBI]
|
0.000119634
|
|
|
crumpled helices and small mouth
|
[NCBI]
|
0.000119634
|
|
|
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
|
[NCBI]
|
0.000119634
|
|
|
bird-headed dwarfism, montreal type
|
[NCBI]
|
0.000119634
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
0.000119634
|
|
|
SLOS
|
[NCBI]
|
0.000104504
|
|
|
crane-heise syndrome
|
[NCBI]
|
9.71713e-05
|
|
|
deafness, congenital, with inner ear agenesis, microtia, and microdontia
|
[NCBI]
|
9.71713e-05
|
|
|
pierre robin syndrome and oligodactyly
|
[NCBI]
|
9.71713e-05
|
|
|
genitopalatocardiac syndrome
|
[NCBI]
|
8.86992e-05
|
|
|
aortic aneurysm, giant congenital
|
[NCBI]
|
8.86992e-05
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
8.32009e-05
|
|
|
say syndrome
|
[NCBI]
|
8.32009e-05
|
|
|
pierre robin syndrome
|
[NCBI]
|
8.32009e-05
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
8.32009e-05
|
|
|
splenogonadal fusion with limb defects and micrognathia
|
[NCBI]
|
7.91149e-05
|
|
|
CTSK
|
[NCBI]
|
7.59186e-05
|
|
|
acrofacial dysostosis syndrome of rodriguez
|
[NCBI]
|
7.31565e-05
|
|
|
young-simpson syndrome
|
[NCBI]
|
7.31565e-05
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
7.08428e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
6.70263e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
6.39468e-05
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
6.26044e-05
|
|
|
c syndrome
|
[NCBI]
|
6.02173e-05
|
|
|
COFS1
|
[NCBI]
|
5.91458e-05
|
|
|
weaver syndrome
|
[NCBI]
|
5.24782e-05
|
|
|
HSS
|
[NCBI]
|
5.24782e-05
|
|
|
MADA
|
[NCBI]
|
5.1174e-05
|
|
|
SRS
|
[NCBI]
|
4.88786e-05
|
|
|
AHC
|
[NCBI]
|
4.78084e-05
|
|
|
charge syndrome
|
[NCBI]
|
4.5042e-05
|
|
|
SJS1
|
[NCBI]
|
4.19874e-05
|
|
|
AMC
|
[NCBI]
|
3.55857e-05
|
|
|
HGPS
|
[NCBI]
|
3.40786e-05
|
|
|
NS1
|
[NCBI]
|
3.01539e-05
|
|
|
AFP
|
[NCBI]
|
2.74422e-05
|
|
|
BWS
|
[NCBI]
|
1.33487e-05
|
|