|
OMIM |
Link |
Information
gain |
01 |
|
|
acetabular dysplasia
|
[NCBI]
|
0.00672553
|
|
|
|
hip dysplasia, beukes type
|
[NCBI]
|
0.00176285
|
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.00140547
|
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.00102539
|
|
|
|
joint laxity, familial
|
[NCBI]
|
0.000807657
|
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000601472
|
|
|
|
LRS1
|
[NCBI]
|
0.000360857
|
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000254316
|
|
|
|
AMC
|
[NCBI]
|
0.000179672
|
|
|
|
WSS
|
[NCBI]
|
0.000164836
|
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000154786
|
|
|
|
dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism
|
[NCBI]
|
0.000125989
|
|
|
|
patella aplasia, coxa vara, and tarsal synostosis
|
[NCBI]
|
0.000125989
|
|
|
|
keratoconus and congenital hip dysplasia
|
[NCBI]
|
0.000125989
|
|
|
|
dwarfism with tall vertebrae
|
[NCBI]
|
0.000125989
|
|
|
|
COL2A1
|
[NCBI]
|
0.000116762
|
|
|
|
stocco dos santos x-linked mental retardation syndrome
|
[NCBI]
|
0.000103524
|
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
0.000103524
|
|
|
|
coxoauricular syndrome
|
[NCBI]
|
0.000103524
|
|
|
|
rhizomelic dysplasia, patterson-lowry type
|
[NCBI]
|
9.50481e-05
|
|
|
|
ASPED
|
[NCBI]
|
9.50481e-05
|
|
|
|
carnevale syndrome
|
[NCBI]
|
9.50481e-05
|
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
8.95465e-05
|
|
|
|
clubfoot
|
[NCBI]
|
8.54573e-05
|
|
|
|
SPS
|
[NCBI]
|
8.22e-05
|
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
8.22e-05
|
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
7.94923e-05
|
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
7.94923e-05
|
|
|
|
short syndrome
|
[NCBI]
|
7.71753e-05
|
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
7.33522e-05
|
|
|
|
FFS
|
[NCBI]
|
7.02662e-05
|
|
|
|
three m syndrome
|
[NCBI]
|
6.89205e-05
|
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
6.65269e-05
|
|
|
|
BDC
|
[NCBI]
|
6.65269e-05
|
|
|
|
seckel syndrome 1
|
[NCBI]
|
6.34977e-05
|
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
5.94566e-05
|
|
|
|
RIEG1
|
[NCBI]
|
5.62368e-05
|
|
|
|
central core disease of muscle
|
[NCBI]
|
5.56645e-05
|
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
5.35623e-05
|
|
|
|
glycogen storage disease i
|
[NCBI]
|
5.28443e-05
|
|
|
|
SPDA1
|
[NCBI]
|
5.12761e-05
|
|
|
|
SJS1
|
[NCBI]
|
4.81952e-05
|
|
|
|
COL1A1
|
[NCBI]
|
4.75757e-05
|
|
|
|
MHS1
|
[NCBI]
|
4.36773e-05
|
|
|
|
ALS1
|
[NCBI]
|
3.89888e-05
|
|
|
|
APS1
|
[NCBI]
|
3.52634e-05
|
|
|
|
G6PD
|
[NCBI]
|
2.4889e-05
|
|
|
|
PWS
|
[NCBI]
|
8.62433e-06
|
|
