|
OMIM |
Link |
Information gain |
01 |
|
camptodactyly
|
[NCBI]
|
0.00160406
|
|
|
SHFM3
|
[NCBI]
|
0.00105589
|
|
|
BDA3
|
[NCBI]
|
0.00101415
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.00101415
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000714407
|
|
|
OFD3
|
[NCBI]
|
0.000714407
|
|
|
aase-smith syndrome i
|
[NCBI]
|
0.000714407
|
|
|
OFD5
|
[NCBI]
|
0.000714407
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000661222
|
|
|
OFD9
|
[NCBI]
|
0.000590318
|
|
|
gordon syndrome
|
[NCBI]
|
0.000505205
|
|
|
OFD4
|
[NCBI]
|
0.000489696
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000450881
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000439881
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000402528
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.000347941
|
|
|
MVP
|
[NCBI]
|
0.000317294
|
|
|
poland syndrome
|
[NCBI]
|
0.00031277
|
|
|
EEC1
|
[NCBI]
|
0.000308386
|
|
|
gracile bone dysplasia
|
[NCBI]
|
0.000190534
|
|
|
FBXW4
|
[NCBI]
|
0.000162992
|
|
|
SRS
|
[NCBI]
|
0.000128403
|
|
|
ODDD
|
[NCBI]
|
0.000127427
|
|
|
disproportionate short stature with ptosis and valvular heart lesions
|
[NCBI]
|
0.000125989
|
|
|
thumbs, congenital clasped
|
[NCBI]
|
0.000125989
|
|
|
OOCH
|
[NCBI]
|
0.000125989
|
|
|
hypophosphatemia, renal, with intracerebral calcifications
|
[NCBI]
|
0.000125989
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
0.000125989
|
|
|
GLI3
|
[NCBI]
|
0.000122134
|
|
|
GCPS
|
[NCBI]
|
0.000120065
|
|
|
prader-willi habitus, osteopenia, and camptodactyly
|
[NCBI]
|
0.000103524
|
|
|
plantar lipomatosis, unusual facies, and developmental delay
|
[NCBI]
|
0.000103524
|
|
|
OFD7
|
[NCBI]
|
0.000103524
|
|
|
aarskog syndrome
|
[NCBI]
|
9.50481e-05
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
9.50481e-05
|
|
|
peripheral dysostosis
|
[NCBI]
|
9.50481e-05
|
|
|
ehlers-danlos syndrome, autosomal recessive, cardiac valvular form
|
[NCBI]
|
9.50481e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
8.95465e-05
|
|
|
osteolysis, hereditary multicentric
|
[NCBI]
|
8.54573e-05
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
8.54573e-05
|
|
|
MONA
|
[NCBI]
|
8.22e-05
|
|
|
HMS
|
[NCBI]
|
7.71753e-05
|
|
|
winchester syndrome
|
[NCBI]
|
7.51504e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
7.33522e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
7.33522e-05
|
|
|
BTRC
|
[NCBI]
|
6.99095e-05
|
|
|
SLOS
|
[NCBI]
|
6.90387e-05
|
|
|
adult syndrome
|
[NCBI]
|
6.89205e-05
|
|
|
BDC
|
[NCBI]
|
6.65269e-05
|
|
|
EEC3
|
[NCBI]
|
6.44451e-05
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
6.44451e-05
|
|
|
HOXA13
|
[NCBI]
|
6.14741e-05
|
|
|
PDP
|
[NCBI]
|
6.09524e-05
|
|
|
RA
|
[NCBI]
|
5.78441e-05
|
|
|
NOG
|
[NCBI]
|
5.48274e-05
|
|
|
faciogenital dysplasia
|
[NCBI]
|
5.45784e-05
|
|
|
GDF5
|
[NCBI]
|
5.22791e-05
|
|
|
TBS
|
[NCBI]
|
5.17075e-05
|
|
|
PHS
|
[NCBI]
|
4.89104e-05
|
|
|
FDH
|
[NCBI]
|
4.85487e-05
|
|
|
MAOA
|
[NCBI]
|
4.62854e-05
|
|
|
RTS
|
[NCBI]
|
4.5042e-05
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
4.40959e-05
|
|
|
HOS
|
[NCBI]
|
4.36773e-05
|
|
|
RSTS
|
[NCBI]
|
4.34183e-05
|
|
|
COL1A2
|
[NCBI]
|
4.1519e-05
|
|
|
FGFR2
|
[NCBI]
|
3.62047e-05
|
|
|
NS1
|
[NCBI]
|
3.6191e-05
|
|
|
BCNS
|
[NCBI]
|
2.7624e-05
|
|