|
OMIM |
Link |
Information
gain |
01 |
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
0.00382232
|
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.00157894
|
|
|
|
morquio syndrome b
|
[NCBI]
|
0.00154414
|
|
|
|
spondylodysplasia with pure brachyolmia
|
[NCBI]
|
0.00078076
|
|
|
|
SEMDIT
|
[NCBI]
|
0.00078076
|
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
0.000778409
|
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.00072749
|
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.000630242
|
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000630242
|
|
|
|
ACG1A
|
[NCBI]
|
0.000505205
|
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000476092
|
|
|
|
ATD1
|
[NCBI]
|
0.000367651
|
|
|
|
GLB1
|
[NCBI]
|
0.000309343
|
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
0.00028725
|
|
|
|
morquio syndrome, nonkeratosulfate-excreting type
|
[NCBI]
|
0.000242653
|
|
|
|
ARSB
|
[NCBI]
|
0.000201285
|
|
|
|
SEDC
|
[NCBI]
|
0.000195987
|
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
0.00018813
|
|
|
|
TD1
|
[NCBI]
|
0.000158374
|
|
|
|
SEDT
|
[NCBI]
|
0.000152277
|
|
|
|
PPAC
|
[NCBI]
|
0.000132688
|
|
|
|
spondyloepiphyseal dysplasia with punctate corneal dystrophy
|
[NCBI]
|
0.000121164
|
|
|
|
skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris
|
[NCBI]
|
9.87009e-05
|
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
9.02278e-05
|
|
|
|
mucopolysaccharidosis type viii
|
[NCBI]
|
9.02278e-05
|
|
|
|
SMC
|
[NCBI]
|
7.73868e-05
|
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
7.03443e-05
|
|
|
|
AMDM
|
[NCBI]
|
6.69339e-05
|
|
|
|
COL2A1
|
[NCBI]
|
6.29997e-05
|
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
5.61748e-05
|
|
|
|
APRT
|
[NCBI]
|
5.18153e-05
|
|
|
|
mucolipidosis iv
|
[NCBI]
|
4.93106e-05
|
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
4.88131e-05
|
|
|
|
STL1
|
[NCBI]
|
4.61212e-05
|
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
4.61212e-05
|
|
|
|
SJS1
|
[NCBI]
|
4.34768e-05
|
|
|
|
PSACH
|
[NCBI]
|
3.59577e-05
|
|
|
|
ALS1
|
[NCBI]
|
3.43558e-05
|
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
3.03255e-05
|
|
