|
OMIM |
Link |
Information
gain |
01 |
|
|
mohr syndrome
|
[NCBI]
|
0.0121475
|
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00709097
|
|
|
|
OFD4
|
[NCBI]
|
0.00582674
|
|
|
|
OFD9
|
[NCBI]
|
0.00381991
|
|
|
|
OFD3
|
[NCBI]
|
0.0025352
|
|
|
|
OFD1
|
[NCBI]
|
0.00212066
|
|
|
|
OFD8
|
[NCBI]
|
0.00138693
|
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.00133039
|
|
|
|
JBTS1
|
[NCBI]
|
0.00107131
|
|
|
|
CXORF5
|
[NCBI]
|
0.000670534
|
|
|
|
OFD5
|
[NCBI]
|
0.000542647
|
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000489961
|
|
|
|
acrodysostosis
|
[NCBI]
|
0.000353703
|
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000295976
|
|
|
|
POADS
|
[NCBI]
|
0.000295976
|
|
|
|
DA2A
|
[NCBI]
|
0.000292216
|
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000284609
|
|
|
|
OFD7
|
[NCBI]
|
0.000246069
|
|
|
|
gurrieri syndrome
|
[NCBI]
|
0.00020114
|
|
|
|
AIC
|
[NCBI]
|
0.000188164
|
|
|
|
OPD1
|
[NCBI]
|
0.000150691
|
|
|
|
TCOF1
|
[NCBI]
|
0.000131064
|
|
|
|
OFD10
|
[NCBI]
|
0.000122855
|
|
|
|
metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
|
[NCBI]
|
0.000122855
|
|
|
|
ODDD
|
[NCBI]
|
0.000121129
|
|
|
|
PHS
|
[NCBI]
|
0.000114518
|
|
|
|
MCOPCT3
|
[NCBI]
|
0.00010039
|
|
|
|
coxoauricular syndrome
|
[NCBI]
|
0.00010039
|
|
|
|
OFC1
|
[NCBI]
|
9.77288e-05
|
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
9.19162e-05
|
|
|
|
oroacral syndrome, verloes-koulischer type
|
[NCBI]
|
8.64161e-05
|
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
8.23283e-05
|
|
|
|
TBL1X
|
[NCBI]
|
7.91457e-05
|
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
7.90724e-05
|
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
7.20272e-05
|
|
|
|
wildervanck syndrome
|
[NCBI]
|
6.71474e-05
|
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
6.45632e-05
|
|
|
|
MTS
|
[NCBI]
|
6.23392e-05
|
|
|
|
OPD2
|
[NCBI]
|
6.13336e-05
|
|
|
|
CDPX1
|
[NCBI]
|
5.94948e-05
|
|
|
|
crouzon syndrome
|
[NCBI]
|
5.86494e-05
|
|
|
|
PAFAH1B1
|
[NCBI]
|
5.81716e-05
|
|
|
|
AFD1
|
[NCBI]
|
5.63538e-05
|
|
|
|
MNS
|
[NCBI]
|
5.63538e-05
|
|
|
|
ACLS
|
[NCBI]
|
5.43492e-05
|
|
|
|
FPLD2
|
[NCBI]
|
4.9991e-05
|
|
|
|
polycystic kidneys
|
[NCBI]
|
4.63474e-05
|
|
|
|
FDH
|
[NCBI]
|
4.54781e-05
|
|
|
|
MKS1
|
[NCBI]
|
4.0892e-05
|
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
4.0892e-05
|
|
|
|
WS1
|
[NCBI]
|
4.063e-05
|
|
|
|
CLS
|
[NCBI]
|
3.9625e-05
|
|
|
|
TCOF
|
[NCBI]
|
3.91463e-05
|
|
|
|
HGPS
|
[NCBI]
|
3.71625e-05
|
|
|
|
IP
|
[NCBI]
|
2.80634e-05
|
|
|
|
BCNS
|
[NCBI]
|
2.47372e-05
|
|
