|
OMIM |
Link |
Information
gain |
01 |
|
|
MF4
|
[NCBI]
|
0.00235593
|
|
|
|
vertebral hypoplasia with lumbar kyphosis
|
[NCBI]
|
0.00138332
|
|
|
|
singleton-merten syndrome
|
[NCBI]
|
0.00138332
|
|
|
|
metaphyseal acroscyphodysplasia
|
[NCBI]
|
0.00107278
|
|
|
|
bone size quantitative trait locus 1
|
[NCBI]
|
0.000955856
|
|
|
|
SEMDJL
|
[NCBI]
|
0.000955856
|
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000955856
|
|
|
|
acrodysostosis
|
[NCBI]
|
0.000742027
|
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.000710324
|
|
|
|
mohr syndrome
|
[NCBI]
|
0.00065814
|
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000597895
|
|
|
|
poland syndrome
|
[NCBI]
|
0.000405938
|
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
0.000389163
|
|
|
|
uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
|
[NCBI]
|
0.000389163
|
|
|
|
SPD2
|
[NCBI]
|
0.000310666
|
|
|
|
LWD
|
[NCBI]
|
0.000306104
|
|
|
|
catel-manzke syndrome
|
[NCBI]
|
0.000261877
|
|
|
|
ulnar/fibular ray defect and brachydactyly
|
[NCBI]
|
0.000194314
|
|
|
|
fibromatosis, gingival, with hypertrichosis and mental retardation
|
[NCBI]
|
0.000194314
|
|
|
|
syndactyly, type v
|
[NCBI]
|
0.000194314
|
|
|
|
SRS
|
[NCBI]
|
0.000185453
|
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
0.000155067
|
|
|
|
second metatarsal-metacarpal syndrome
|
[NCBI]
|
0.000155067
|
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
0.000155067
|
|
|
|
AHO
|
[NCBI]
|
0.000149358
|
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
0.000140271
|
|
|
|
osteomesopyknosis
|
[NCBI]
|
0.000140271
|
|
|
|
CDLS1
|
[NCBI]
|
0.000137089
|
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
0.000117868
|
|
|
|
BDE
|
[NCBI]
|
0.000117868
|
|
|
|
hyperostosis corticalis generalisata
|
[NCBI]
|
0.000117868
|
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
0.000109122
|
|
|
|
three m syndrome
|
[NCBI]
|
0.000109122
|
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
9.9667e-05
|
|
|
|
diastrophic dysplasia
|
[NCBI]
|
9.9667e-05
|
|
|
|
SPD1
|
[NCBI]
|
9.71173e-05
|
|
|
|
HOXD13
|
[NCBI]
|
9.54945e-05
|
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
9.06349e-05
|
|
|
|
LRS1
|
[NCBI]
|
8.70318e-05
|
|
|
|
UMS
|
[NCBI]
|
8.2386e-05
|
|
|
|
MKKS
|
[NCBI]
|
7.96782e-05
|
|
|
|
PTH
|
[NCBI]
|
7.84048e-05
|
|
|
|
BGS
|
[NCBI]
|
7.60653e-05
|
|
|
|
PHS
|
[NCBI]
|
7.09505e-05
|
|
|
|
RCDP1
|
[NCBI]
|
6.91508e-05
|
|
|
|
sotos syndrome
|
[NCBI]
|
6.58817e-05
|
|
|
|
SLE
|
[NCBI]
|
6.5288e-05
|
|
|
|
BGLAP
|
[NCBI]
|
6.3573e-05
|
|
|
|
NS1
|
[NCBI]
|
5.85586e-05
|
|
|
|
HOS
|
[NCBI]
|
5.74245e-05
|
|
|
|
SDS
|
[NCBI]
|
5.63386e-05
|
|
|
|
HHT
|
[NCBI]
|
5.63386e-05
|
|
|
|
CES
|
[NCBI]
|
5.19577e-05
|
|
|
|
CCD
|
[NCBI]
|
4.94128e-05
|
|
|
|
FLNB
|
[NCBI]
|
4.50459e-05
|
|
|
|
TBX3
|
[NCBI]
|
4.37904e-05
|
|
|
|
TBX5
|
[NCBI]
|
4.1792e-05
|
|
|
|
SHOX
|
[NCBI]
|
3.86605e-05
|
|
|
|
RTT
|
[NCBI]
|
3.27629e-05
|
|
|
|
WBS
|
[NCBI]
|
2.98365e-05
|
|
|
|
RA
|
[NCBI]
|
2.37354e-05
|
|
|
|
GJA1
|
[NCBI]
|
1.9979e-05
|
|
|
|
ACP5
|
[NCBI]
|
1.6248e-05
|
|
|
|
GFAP
|
[NCBI]
|
5.03291e-06
|
|
