|
OMIM |
Link |
Information gain |
01 |
|
acetabular dysplasia
|
[NCBI]
|
0.00123077
|
|
|
borrone dermatocardioskeletal syndrome
|
[NCBI]
|
0.000984578
|
|
|
muscular dystrophy, congenital, producing arthrogryposis
|
[NCBI]
|
0.000766909
|
|
|
joint laxity, familial
|
[NCBI]
|
0.000766909
|
|
|
RA
|
[NCBI]
|
0.000765527
|
|
|
STL1
|
[NCBI]
|
0.000689458
|
|
|
hyperimmunoglobulin e-recurrent infection syndrome, autosomal recessive
|
[NCBI]
|
0.000684933
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000684933
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.0006318
|
|
|
CACP
|
[NCBI]
|
0.000605547
|
|
|
dermochondrocorneal dystrophy
|
[NCBI]
|
0.000592366
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.000592366
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000534964
|
|
|
CCAL2
|
[NCBI]
|
0.000492144
|
|
|
HFTC
|
[NCBI]
|
0.000487253
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
0.000460635
|
|
|
CARASIL
|
[NCBI]
|
0.000460635
|
|
|
DBQD
|
[NCBI]
|
0.000446614
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000421975
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000421975
|
|
|
COMP
|
[NCBI]
|
0.000398647
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000382327
|
|
|
OD
|
[NCBI]
|
0.000344266
|
|
|
PPAC
|
[NCBI]
|
0.000288292
|
|
|
COL2A1
|
[NCBI]
|
0.000207433
|
|
|
CF
|
[NCBI]
|
0.00017695
|
|
|
mucopolysaccharidoses, unclassified types
|
[NCBI]
|
0.000161981
|
|
|
GEMSS
|
[NCBI]
|
0.000161981
|
|
|
MONA
|
[NCBI]
|
0.000131152
|
|
|
STL3
|
[NCBI]
|
0.000131152
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
0.000125216
|
|
|
CINCA
|
[NCBI]
|
0.000125216
|
|
|
WISP3
|
[NCBI]
|
0.000117969
|
|
|
winchester syndrome
|
[NCBI]
|
0.000115907
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000112112
|
|
|
PRG4
|
[NCBI]
|
0.000106205
|
|
|
WZS
|
[NCBI]
|
0.000102882
|
|
|
SYNS1
|
[NCBI]
|
0.000102882
|
|
|
BDC
|
[NCBI]
|
9.7959e-05
|
|
|
WGN1
|
[NCBI]
|
9.7959e-05
|
|
|
bowen syndrome of multiple malformations
|
[NCBI]
|
9.6412e-05
|
|
|
brachydactyly, long-thumb type
|
[NCBI]
|
9.6412e-05
|
|
|
syndesmodysplasic dwarfism
|
[NCBI]
|
9.6412e-05
|
|
|
dysplasia epiphysealis hemimelica with chondromas and osteochondromas
|
[NCBI]
|
9.6412e-05
|
|
|
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature
|
[NCBI]
|
9.6412e-05
|
|
|
pfeiffer-palm-teller syndrome
|
[NCBI]
|
9.6412e-05
|
|
|
arthropathy, tendinous calcinosis, and progeroid features
|
[NCBI]
|
9.6412e-05
|
|
|
coracoclavicular joint, anomalous
|
[NCBI]
|
9.6412e-05
|
|
|
alkaptonuria
|
[NCBI]
|
7.60556e-05
|
|
|
BDB2
|
[NCBI]
|
7.39816e-05
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
7.39816e-05
|
|
|
S PEAK SYNDROME
|
[NCBI]
|
7.39816e-05
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
7.39816e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
7.09375e-05
|
|
|
RSMD1
|
[NCBI]
|
7.00115e-05
|
|
|
brachydactyly, preaxial, with hallux varus and thumb abduction
|
[NCBI]
|
6.55418e-05
|
|
|
humeroradial synostosis
|
[NCBI]
|
6.55418e-05
|
|
|
larsen-like syndrome, lethal type
|
[NCBI]
|
6.55418e-05
|
|
|
arteritis, familial granulomatous, with juvenile polyarthritis
|
[NCBI]
|
6.55418e-05
|
|
|
GNPTG
|
[NCBI]
|
6.40948e-05
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
6.00757e-05
|
|
|
sarcoidosis, early-onset
|
[NCBI]
|
6.00757e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
5.81798e-05
|
|
|
complement component c1r deficiency
|
[NCBI]
|
5.55233e-05
|
|
|
ERRFI1
|
[NCBI]
|
5.55233e-05
|
|
|
AGER
|
[NCBI]
|
5.35388e-05
|
|
|
stickler syndrome, type i, nonsyndromic ocular
|
[NCBI]
|
5.28003e-05
|
|
|
hyalinosis, infantile systemic
|
[NCBI]
|
5.28003e-05
|
|
|
marfanoid hypermobility syndrome
|
[NCBI]
|
5.28003e-05
|
|
|
STL2
|
[NCBI]
|
5.01282e-05
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
5.01282e-05
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
4.78468e-05
|
|
|
GALNT3
|
[NCBI]
|
4.66941e-05
|
|
|
HFE
|
[NCBI]
|
4.46783e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
4.40949e-05
|
|
|
NLRP3
|
[NCBI]
|
4.36983e-05
|
|
|
HHS
|
[NCBI]
|
4.25134e-05
|
|
|
AMDM
|
[NCBI]
|
4.25134e-05
|
|
|
COL11A2
|
[NCBI]
|
4.21114e-05
|
|
|
CTSD
|
[NCBI]
|
4.21114e-05
|
|
|
COL11A1
|
[NCBI]
|
4.21114e-05
|
|
|
HGD
|
[NCBI]
|
4.21114e-05
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
4.07453e-05
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
3.97699e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
3.74474e-05
|
|
|
COL6A1
|
[NCBI]
|
3.66387e-05
|
|
|
LRS1
|
[NCBI]
|
3.64083e-05
|
|
|
marshall syndrome
|
[NCBI]
|
3.64083e-05
|
|
|
muckle-wells syndrome
|
[NCBI]
|
3.64083e-05
|
|
|
COFS1
|
[NCBI]
|
3.64083e-05
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
3.54368e-05
|
|
|
synovitis, granulomatous, with uveitis and cranial neuropathies
|
[NCBI]
|
3.54368e-05
|
|
|
HSAN2
|
[NCBI]
|
3.4525e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
3.40739e-05
|
|
|
MMP3
|
[NCBI]
|
3.40739e-05
|
|
|
hypophosphatasia, adult type
|
[NCBI]
|
3.36662e-05
|
|
|
pta deficiency
|
[NCBI]
|
3.34503e-05
|
|
|
ACP5
|
[NCBI]
|
3.28855e-05
|
|
|
C3
|
[NCBI]
|
3.28644e-05
|
|
|
NOD2
|
[NCBI]
|
3.15385e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
2.81781e-05
|
|
|
OKS
|
[NCBI]
|
2.65664e-05
|
|
|
DA2A
|
[NCBI]
|
2.42398e-05
|
|
|
FCAS
|
[NCBI]
|
2.38189e-05
|
|
|
periodic fever, familial, autosomal dominant
|
[NCBI]
|
2.34109e-05
|
|
|
GUSB
|
[NCBI]
|
2.33908e-05
|
|
|
LMNA
|
[NCBI]
|
2.30819e-05
|
|
|
SPDA1
|
[NCBI]
|
2.3015e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
2.26307e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
2.2121e-05
|
|
|
AKR1B1
|
[NCBI]
|
1.81911e-05
|
|
|
OSM
|
[NCBI]
|
1.78452e-05
|
|
|
GPI
|
[NCBI]
|
1.72447e-05
|
|
|
MHS1
|
[NCBI]
|
1.62349e-05
|
|
|
CRMO
|
[NCBI]
|
1.53664e-05
|
|
|
APC
|
[NCBI]
|
1.53036e-05
|
|
|
PTH
|
[NCBI]
|
1.40516e-05
|
|
|
SLS
|
[NCBI]
|
1.24518e-05
|
|
|
CGD
|
[NCBI]
|
1.21387e-05
|
|
|
wilson disease
|
[NCBI]
|
8.58769e-06
|
|
|
ZS
|
[NCBI]
|
7.69969e-06
|
|
|
TNFRSF11B
|
[NCBI]
|
6.48184e-06
|
|
|
MUC1
|
[NCBI]
|
5.08048e-06
|
|
|
CAT
|
[NCBI]
|
2.38737e-06
|
|
|
VEGF
|
[NCBI]
|
2.20751e-06
|
|
|
PXE
|
[NCBI]
|
1.7845e-06
|
|
|
SLE
|
[NCBI]
|
1.37216e-06
|
|
|
TNF
|
[NCBI]
|
1.12633e-06
|
|
|
FMF
|
[NCBI]
|
5.80407e-07
|
|
|
AS
|
[NCBI]
|
1.66266e-07
|
|
|
CVID
|
[NCBI]
|
9.11569e-08
|
|
|
MPO
|
[NCBI]
|
5.02314e-08
|
|
|
PRL
|
[NCBI]
|
3.24753e-08
|
|