|
OMIM |
Link |
Information
gain |
01 |
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.00414324
|
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.00189459
|
|
|
|
palpebral coloboma-lipoma syndrome
|
[NCBI]
|
0.00108741
|
|
|
|
spiegler-brooke syndrome
|
[NCBI]
|
0.000872744
|
|
|
|
ichthyosis--cheek--eyebrow syndrome
|
[NCBI]
|
0.000656625
|
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000460124
|
|
|
|
eyebrows, duplication of, with stretchable skin and syndactyly
|
[NCBI]
|
0.000436481
|
|
|
|
hair defect with photosensitivity and mental retardation
|
[NCBI]
|
0.000217625
|
|
|
|
ectodermal dysplasia, hidrotic, christianson-fourie type
|
[NCBI]
|
0.000217625
|
|
|
|
woolly hair, hypotrichosis, everted lower lip, and outstanding ears
|
[NCBI]
|
0.000217625
|
|
|
|
tented eyebrows
|
[NCBI]
|
0.000217625
|
|
|
|
tietz syndrome
|
[NCBI]
|
0.000217625
|
|
|
|
WS1
|
[NCBI]
|
0.000214928
|
|
|
|
EV
|
[NCBI]
|
0.000187812
|
|
|
|
albinism, ocular, with sensorineural deafness
|
[NCBI]
|
0.00017836
|
|
|
|
keratosis pilaris
|
[NCBI]
|
0.000163548
|
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
0.000146787
|
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
0.000132315
|
|
|
|
KFSD
|
[NCBI]
|
0.000110075
|
|
|
|
fraser syndrome
|
[NCBI]
|
0.000100143
|
|
|
|
PKS
|
[NCBI]
|
9.28445e-05
|
|
|
|
RSTS
|
[NCBI]
|
8.56332e-05
|
|
|
|
ED1
|
[NCBI]
|
8.11002e-05
|
|
|
|
CDLS1
|
[NCBI]
|
7.16367e-05
|
|
|
|
IP
|
[NCBI]
|
5.94233e-05
|
|
|
|
FY
|
[NCBI]
|
5.43329e-05
|
|
|
|
MITF
|
[NCBI]
|
4.38596e-05
|
|
|
|
RP
|
[NCBI]
|
2.26695e-05
|
|
