|
OMIM |
Link |
Information gain |
01 |
|
apnea, obstructive sleep
|
[NCBI]
|
0.024678
|
|
|
RA
|
[NCBI]
|
0.0155674
|
|
|
VRNI
|
[NCBI]
|
0.015359
|
|
|
SRS
|
[NCBI]
|
0.0147825
|
|
|
kabuki syndrome
|
[NCBI]
|
0.0101355
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.00907986
|
|
|
SLE
|
[NCBI]
|
0.00772874
|
|
|
AOS
|
[NCBI]
|
0.00679224
|
|
|
FRNS
|
[NCBI]
|
0.0067499
|
|
|
CF
|
[NCBI]
|
0.0066425
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00581669
|
|
|
EEC1
|
[NCBI]
|
0.00483823
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.00477595
|
|
|
NLS
|
[NCBI]
|
0.00452075
|
|
|
AIC
|
[NCBI]
|
0.0042705
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.00390723
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00380936
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.00351427
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.00348368
|
|
|
JBTS1
|
[NCBI]
|
0.0033714
|
|
|
IDDM
|
[NCBI]
|
0.00303685
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00300758
|
|
|
GPS
|
[NCBI]
|
0.0025361
|
|
|
AD
|
[NCBI]
|
0.00244078
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.0022973
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00223543
|
|
|
gapo syndrome
|
[NCBI]
|
0.00223543
|
|
|
SMS
|
[NCBI]
|
0.00213873
|
|
|
WHS
|
[NCBI]
|
0.00208221
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00207669
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.00195571
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.00195571
|
|
|
SDS
|
[NCBI]
|
0.00185359
|
|
|
CRC
|
[NCBI]
|
0.00183216
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.00177808
|
|
|
POADS
|
[NCBI]
|
0.00177808
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.00177088
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
0.00167607
|
|
|
costello syndrome
|
[NCBI]
|
0.00163577
|
|
|
VWS
|
[NCBI]
|
0.00162282
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00159437
|
|
|
arima syndrome
|
[NCBI]
|
0.00151088
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.00151088
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.00151088
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.00150679
|
|
|
MKS1
|
[NCBI]
|
0.0014815
|
|
|
sotos syndrome
|
[NCBI]
|
0.00138668
|
|
|
MBS
|
[NCBI]
|
0.00137445
|
|
|
MG
|
[NCBI]
|
0.00134382
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.00130923
|
|
|
PHS
|
[NCBI]
|
0.00129882
|
|
|
HOS
|
[NCBI]
|
0.00128447
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.00126432
|
|
|
GO
|
[NCBI]
|
0.00126432
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.0012538
|
|
|
peho syndrome
|
[NCBI]
|
0.0012538
|
|
|
UFS
|
[NCBI]
|
0.0012538
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.00124649
|
|
|
CJD
|
[NCBI]
|
0.00120572
|
|
|
COH1
|
[NCBI]
|
0.00119086
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.00118755
|
|
|
ZLS
|
[NCBI]
|
0.00115078
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.00113842
|
|
|
ACLS
|
[NCBI]
|
0.00112625
|
|
|
MEHMO
|
[NCBI]
|
0.00111704
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
0.00111704
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00110233
|
|
|
BPES
|
[NCBI]
|
0.0010974
|
|
|
ABS
|
[NCBI]
|
0.00109616
|
|
|
OKS
|
[NCBI]
|
0.00109616
|
|
|
TBS
|
[NCBI]
|
0.00108413
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.00108251
|
|
|
CLS
|
[NCBI]
|
0.00106024
|
|
|
RBS
|
[NCBI]
|
0.00105686
|
|
|
BRRS
|
[NCBI]
|
0.00103289
|
|
|
SGBS1
|
[NCBI]
|
0.00103195
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.00102695
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.00102695
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.00102695
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.00102695
|
|
|
sneddon syndrome
|
[NCBI]
|
0.00102695
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.00101894
|
|
|
JBTS2
|
[NCBI]
|
0.00100059
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.00100059
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
0.000996822
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000994629
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000994629
|
|
|
BGS
|
[NCBI]
|
0.000972657
|
|
|
MTS
|
[NCBI]
|
0.000937154
|
|
|
STL1
|
[NCBI]
|
0.000907993
|
|
|
PD
|
[NCBI]
|
0.000907699
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000906654
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
0.000906654
|
|
|
ALMS
|
[NCBI]
|
0.000890357
|
|
|
CVS
|
[NCBI]
|
0.000869515
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000868412
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.000868412
|
|
|
HTC1
|
[NCBI]
|
0.000862675
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.000862675
|
|
|
PKS
|
[NCBI]
|
0.000857926
|
|
|
GCPS
|
[NCBI]
|
0.000852715
|
|
|
usher syndrome, type i
|
[NCBI]
|
0.00085186
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000844753
|
|
|
USH1E
|
[NCBI]
|
0.000837655
|
|
|
FGS2
|
[NCBI]
|
0.000837655
|
|
|
wieacker syndrome
|
[NCBI]
|
0.000837655
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.000837655
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000837655
|
|
|
sabinas brittle hair syndrome
|
[NCBI]
|
0.000837655
|
|
|
branchiootic syndrome 2
|
[NCBI]
|
0.000837655
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000837655
|
|
|
WTS
|
[NCBI]
|
0.000837655
|
|
|
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
|
[NCBI]
|
0.000837655
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000837655
|
|
|
behr syndrome
|
[NCBI]
|
0.000837655
|
|
|
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
|
[NCBI]
|
0.000837655
|
|
|
triphalangeal thumbs with brachyectrodactyly
|
[NCBI]
|
0.000837655
|
|
|
BTHS
|
[NCBI]
|
0.000816024
|
|
|
SLC26A4
|
[NCBI]
|
0.00081377
|
|
|
PPR
|
[NCBI]
|
0.000812349
|
|
|
hypertelorism, teebi type
|
[NCBI]
|
0.000796296
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000796296
|
|
|
SPG23
|
[NCBI]
|
0.000796296
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000796296
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000796296
|
|
|
MCOPS7
|
[NCBI]
|
0.000795888
|
|
|
VEGF
|
[NCBI]
|
0.000795123
|
|
|
ATD1
|
[NCBI]
|
0.000771031
|
|
|
weaver syndrome
|
[NCBI]
|
0.000766431
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.00075279
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.00075279
|
|
|
VDEGS
|
[NCBI]
|
0.00075279
|
|
|
kbg syndrome
|
[NCBI]
|
0.00075279
|
|
|
ATRX
|
[NCBI]
|
0.000747024
|
|
|
PDS
|
[NCBI]
|
0.000714308
|
|
|
CES
|
[NCBI]
|
0.000704282
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.00068556
|
|
|
NHS
|
[NCBI]
|
0.000676461
|
|
|
PEE1
|
[NCBI]
|
0.000659195
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.00065174
|
|
|
schopf-schulz-passarge syndrome
|
[NCBI]
|
0.00065174
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.00065174
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.00065174
|
|
|
charge syndrome
|
[NCBI]
|
0.000650386
|
|
|
CD
|
[NCBI]
|
0.000647723
|
|
|
MRXHF1
|
[NCBI]
|
0.000645476
|
|
|
SPS
|
[NCBI]
|
0.000641814
|
|
|
ALPS
|
[NCBI]
|
0.000637103
|
|
|
proteus syndrome
|
[NCBI]
|
0.000635392
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000634024
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.000633592
|
|
|
FSHMD1A
|
[NCBI]
|
0.000615976
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.000609067
|
|
|
BFLS
|
[NCBI]
|
0.000602642
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
0.000593893
|
|
|
BOR1
|
[NCBI]
|
0.000588487
|
|
|
fraser syndrome
|
[NCBI]
|
0.000588487
|
|
|
ATRX
|
[NCBI]
|
0.000585464
|
|
|
MKS2
|
[NCBI]
|
0.000574845
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.000574845
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.000574845
|
|
|
TNF
|
[NCBI]
|
0.000574206
|
|
|
AAA
|
[NCBI]
|
0.000567718
|
|
|
oculopalatocerebral syndrome
|
[NCBI]
|
0.000558353
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000558353
|
|
|
acropectorovertebral dysplasia, f-form of
|
[NCBI]
|
0.000558353
|
|
|
knobloch syndrome, type ii
|
[NCBI]
|
0.000558353
|
|
|
alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality
|
[NCBI]
|
0.000558353
|
|
|
cryptophthalmos, unilateral or bilateral, isolated
|
[NCBI]
|
0.000558353
|
|
|
otoonychoperoneal syndrome
|
[NCBI]
|
0.000558353
|
|
|
PRS
|
[NCBI]
|
0.000558353
|
|
|
HFH
|
[NCBI]
|
0.000558353
|
|
|
scholte syndrome
|
[NCBI]
|
0.000558353
|
|
|
cerebrooculonasal syndrome
|
[NCBI]
|
0.000558353
|
|
|
cdags syndrome
|
[NCBI]
|
0.000558353
|
|
|
singleton-merten syndrome
|
[NCBI]
|
0.000558353
|
|
|
TAZ
|
[NCBI]
|
0.000552209
|
|
|
MKKS
|
[NCBI]
|
0.000552117
|
|
|
WBS
|
[NCBI]
|
0.000545709
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000542918
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000540907
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
0.0005401
|
|
|
FOXL2
|
[NCBI]
|
0.000535768
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
0.000534349
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
0.000530564
|
|
|
MDLS
|
[NCBI]
|
0.000530564
|
|
|
poland syndrome
|
[NCBI]
|
0.000523107
|
|
|
MYO7A
|
[NCBI]
|
0.000520421
|
|
|
CFNS
|
[NCBI]
|
0.000516038
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.000513147
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.000513147
|
|
|
RIEG2
|
[NCBI]
|
0.000513147
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000513147
|
|
|
trichohepatoenteric syndrome
|
[NCBI]
|
0.000513147
|
|
|
KLK3
|
[NCBI]
|
0.000512556
|
|
|
RHS
|
[NCBI]
|
0.000511835
|
|
|
COFS1
|
[NCBI]
|
0.000510837
|
|
|
pitt syndrome
|
[NCBI]
|
0.000510837
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000506987
|
|
|
hemangioma-thrombocytopenia syndrome
|
[NCBI]
|
0.000491441
|
|
|
TS
|
[NCBI]
|
0.000490266
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.000485661
|
|
|
DMC
|
[NCBI]
|
0.0004813
|
|
|
EEC3
|
[NCBI]
|
0.0004813
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
0.0004813
|
|
|
UMS
|
[NCBI]
|
0.000473046
|
|
|
MDD
|
[NCBI]
|
0.000471318
|
|
|
c syndrome
|
[NCBI]
|
0.000469759
|
|
|
NSD1
|
[NCBI]
|
0.000456391
|
|
|
papillorenal syndrome
|
[NCBI]
|
0.000456317
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
0.000456317
|
|
|
FGFR2
|
[NCBI]
|
0.000454879
|
|
|
USH2A
|
[NCBI]
|
0.000454526
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000452843
|
|
|
TRPS2
|
[NCBI]
|
0.000452072
|
|
|
DA2A
|
[NCBI]
|
0.00045024
|
|
|
autism
|
[NCBI]
|
0.000441826
|
|
|
DWS
|
[NCBI]
|
0.000441826
|
|
|
PPS
|
[NCBI]
|
0.000438518
|
|
|
PAX2
|
[NCBI]
|
0.000438466
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
0.000437412
|
|
|
MAFD6
|
[NCBI]
|
0.000437412
|
|
|
KNO
|
[NCBI]
|
0.000432978
|
|
|
GLI3
|
[NCBI]
|
0.000429602
|
|
|
ALGS1
|
[NCBI]
|
0.000428634
|
|
|
TP73L
|
[NCBI]
|
0.00042132
|
|
|
TRPS1
|
[NCBI]
|
0.000417952
|
|
|
TBX5
|
[NCBI]
|
0.000416969
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000405728
|
|
|
JBS
|
[NCBI]
|
0.000402619
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
0.000401409
|
|
|
LMS
|
[NCBI]
|
0.000401409
|
|
|
CD
|
[NCBI]
|
0.000398732
|
|
|
masa syndrome
|
[NCBI]
|
0.000397679
|
|
|
CEACAM5
|
[NCBI]
|
0.000397229
|
|
|
EVA
|
[NCBI]
|
0.000395909
|
|
|
mismatch repair cancer syndrome
|
[NCBI]
|
0.000395062
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
0.000388137
|
|
|
WZS
|
[NCBI]
|
0.000388137
|
|
|
adult syndrome
|
[NCBI]
|
0.000388137
|
|
|
LADD
|
[NCBI]
|
0.000388137
|
|
|
L1CAM
|
[NCBI]
|
0.000382301
|
|
|
HRD
|
[NCBI]
|
0.000379818
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000379603
|
|
|
OFD4
|
[NCBI]
|
0.000379603
|
|
|
ALMS1
|
[NCBI]
|
0.000379312
|
|
|
LRS1
|
[NCBI]
|
0.000378395
|
|
|
JBS
|
[NCBI]
|
0.000377798
|
|
|
BWCNS
|
[NCBI]
|
0.000366877
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000366877
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.000366877
|
|
|
auriculocondylar syndrome
|
[NCBI]
|
0.000366877
|
|
|
USH2B
|
[NCBI]
|
0.000366877
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000361855
|
|
|
HHS
|
[NCBI]
|
0.000361855
|
|
|
peeling skin syndrome
|
[NCBI]
|
0.000361732
|
|
|
EGF
|
[NCBI]
|
0.000361715
|
|
|
ESCS
|
[NCBI]
|
0.000361135
|
|
|
ZS
|
[NCBI]
|
0.000360197
|
|
|
OPPG
|
[NCBI]
|
0.000358462
|
|
|
OPD2
|
[NCBI]
|
0.000358462
|
|
|
GTS
|
[NCBI]
|
0.000356111
|
|
|
EGFR
|
[NCBI]
|
0.000351734
|
|
|
RIEG1
|
[NCBI]
|
0.000351187
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000343237
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.00034084
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000338133
|
|
|
USH3
|
[NCBI]
|
0.000322621
|
|
|
COL2A1
|
[NCBI]
|
0.000321339
|
|
|
MTS
|
[NCBI]
|
0.000321004
|
|
|
marshall syndrome
|
[NCBI]
|
0.000321004
|
|
|
WT1
|
[NCBI]
|
0.000320836
|
|
|
CNC1
|
[NCBI]
|
0.000320763
|
|
|
MYH9
|
[NCBI]
|
0.000320633
|
|
|
diabetes mellitus, insulin-dependent, 2
|
[NCBI]
|
0.000320265
|
|
|
AFD1
|
[NCBI]
|
0.000319273
|
|
|
BZX
|
[NCBI]
|
0.000318924
|
|
|
DBQD
|
[NCBI]
|
0.000318924
|
|
|
SALL1
|
[NCBI]
|
0.000312664
|
|
|
RAI1
|
[NCBI]
|
0.000312664
|
|
|
KCS
|
[NCBI]
|
0.000307445
|
|
|
JWS
|
[NCBI]
|
0.000307445
|
|
|
SBS
|
[NCBI]
|
0.000307445
|
|
|
USH1D
|
[NCBI]
|
0.000307445
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
0.000307445
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
0.000307445
|
|
|
FTL
|
[NCBI]
|
0.000307119
|
|
|
AAAS
|
[NCBI]
|
0.000306083
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000303059
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
0.000303059
|
|
|
MCOPS2
|
[NCBI]
|
0.000301847
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
0.000301847
|
|
|
DGS
|
[NCBI]
|
0.000301656
|
|
|
amyloidosis vi
|
[NCBI]
|
0.000300804
|
|
|
AGS1
|
[NCBI]
|
0.000297575
|
|
|
peters-plus syndrome
|
[NCBI]
|
0.000296632
|
|
|
martsolf syndrome
|
[NCBI]
|
0.000296632
|
|
|
USH3A
|
[NCBI]
|
0.000294988
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.000293397
|
|
|
INSR
|
[NCBI]
|
0.000291567
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.000290646
|
|
|
acrodysostosis
|
[NCBI]
|
0.000290646
|
|
|
PITX2
|
[NCBI]
|
0.000289735
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.000287287
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
0.000287287
|
|
|
EPV
|
[NCBI]
|
0.000287287
|
|
|
DIH2
|
[NCBI]
|
0.000287287
|
|
|
OFD5
|
[NCBI]
|
0.000287287
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000287287
|
|
|
pontocerebellar hypoplasia, type 2
|
[NCBI]
|
0.000287287
|
|
|
hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
|
[NCBI]
|
0.000287287
|
|
|
van der woude syndrome modifier
|
[NCBI]
|
0.000287287
|
|
|
SPG9
|
[NCBI]
|
0.000287287
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000287287
|
|
|
mucoepithelial dysplasia, hereditary
|
[NCBI]
|
0.000287287
|
|
|
alopecia-mental retardation syndrome 1
|
[NCBI]
|
0.000287287
|
|
|
ichthyosis prematurity syndrome
|
[NCBI]
|
0.000287287
|
|
|
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
|
[NCBI]
|
0.000287287
|
|
|
DKC
|
[NCBI]
|
0.000284335
|
|
|
APC
|
[NCBI]
|
0.000284178
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.000284011
|
|
|
liddle syndrome
|
[NCBI]
|
0.000283764
|
|
|
kindler syndrome
|
[NCBI]
|
0.000283764
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
0.000283764
|
|
|
NBS1
|
[NCBI]
|
0.000279611
|
|
|
LAP
|
[NCBI]
|
0.000279134
|
|
|
CFEOM3A
|
[NCBI]
|
0.000279134
|
|
|
S CRAMP
|
[NCBI]
|
0.000279134
|
|
|
acromegaloid features, overgrowth, cleft palate, and hernia
|
[NCBI]
|
0.000279134
|
|
|
tukel syndrome
|
[NCBI]
|
0.000279134
|
|
|
cardiomyopathy, fatal fetal, due to myocardial calcification
|
[NCBI]
|
0.000279134
|
|
|
wittwer syndrome
|
[NCBI]
|
0.000279134
|
|
|
vertebral ossification, defect in, with nephrogenic rests
|
[NCBI]
|
0.000279134
|
|
|
RESDAD
|
[NCBI]
|
0.000279134
|
|
|
reticuloendotheliosis, x-linked
|
[NCBI]
|
0.000279134
|
|
|
angiomatosis, diffuse corticomeningeal, of divry and van bogaert
|
[NCBI]
|
0.000279134
|
|
|
ventriculomegaly with defects of the radius and kidney
|
[NCBI]
|
0.000279134
|
|
|
MCS
|
[NCBI]
|
0.000279134
|
|
|
microcephaly-micromelia syndrome
|
[NCBI]
|
0.000279134
|
|
|
MRXS11
|
[NCBI]
|
0.000279134
|
|
|
DFNA25
|
[NCBI]
|
0.000279134
|
|
|
coloboma-obesity-hypogenitalism-mental retardation syndrome
|
[NCBI]
|
0.000279134
|
|
|
pelvic lipomatosis with crossed renal ectopia
|
[NCBI]
|
0.000279134
|
|
|
ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
|
[NCBI]
|
0.000279134
|
|
|
acropectoral syndrome
|
[NCBI]
|
0.000279134
|
|
|
CORDX2
|
[NCBI]
|
0.000279134
|
|
|
mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration
|
[NCBI]
|
0.000279134
|
|
|
DFNA49
|
[NCBI]
|
0.000279134
|
|
|
hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
|
[NCBI]
|
0.000279134
|
|
|
SCKL3
|
[NCBI]
|
0.000279134
|
|
|
heart-hand syndrome, slovenian type
|
[NCBI]
|
0.000279134
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000279134
|
|
|
curly hair-acral keratoderma-caries syndrome
|
[NCBI]
|
0.000279134
|
|
|
van der woude syndrome 2
|
[NCBI]
|
0.000279134
|
|
|
basaloid follicular hamartoma syndrome, generalized, autosomal dominant
|
[NCBI]
|
0.000279134
|
|
|
FGS3
|
[NCBI]
|
0.000279134
|
|
|
SCKL2
|
[NCBI]
|
0.000279134
|
|
|
multiple mitochondrial dysfunctions syndrome
|
[NCBI]
|
0.000279134
|
|
|
protrusio acetabuli
|
[NCBI]
|
0.000279134
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000279134
|
|
|
SLSN3
|
[NCBI]
|
0.000279134
|
|
|
martin-probst deafness-mental retardation syndrome
|
[NCBI]
|
0.000279134
|
|
|
asperger syndrome, susceptibility to, 2
|
[NCBI]
|
0.000279134
|
|
|
MRXS12
|
[NCBI]
|
0.000279134
|
|
|
EMWX
|
[NCBI]
|
0.000279134
|
|
|
larsen-like syndrome
|
[NCBI]
|
0.000279134
|
|
|
3q29 microdeletion syndrome
|
[NCBI]
|
0.000279134
|
|
|
alopecia-mental retardation syndrome 2
|
[NCBI]
|
0.000279134
|
|
|
DFNA24
|
[NCBI]
|
0.000279134
|
|
|
tremor, nystagmus, and duodenal ulcer
|
[NCBI]
|
0.000279134
|
|
|
dermal ridges-off-the-end
|
[NCBI]
|
0.000279134
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000279134
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.000279134
|
|
|
dermatoglyphics--fingerprint pattern
|
[NCBI]
|
0.000279134
|
|
|
erythrokeratodermia with ataxia
|
[NCBI]
|
0.000279134
|
|
|
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
|
[NCBI]
|
0.000279134
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.000279134
|
|
|
FGS4
|
[NCBI]
|
0.000279134
|
|
|
mental retardation, truncal obesity, retinal dystrophy, and micropenis
|
[NCBI]
|
0.000279134
|
|
|
DFNA31
|
[NCBI]
|
0.000279134
|
|
|
FTD
|
[NCBI]
|
0.000278888
|
|
|
temporal arteritis
|
[NCBI]
|
0.000274812
|
|
|
BHD
|
[NCBI]
|
0.000274291
|
|
|
HOXA13
|
[NCBI]
|
0.000273507
|
|
|
XK
|
[NCBI]
|
0.000272525
|
|
|
SCNN1B
|
[NCBI]
|
0.00027132
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000271219
|
|
|
cholestasis-lymphedema syndrome
|
[NCBI]
|
0.000271219
|
|
|
vestibulopathy, familial
|
[NCBI]
|
0.000271219
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000271219
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.000271219
|
|
|
denys-drash syndrome
|
[NCBI]
|
0.000268357
|
|
|
blue rubber bleb nevus
|
[NCBI]
|
0.00026767
|
|
|
SLOS
|
[NCBI]
|
0.000266602
|
|
|
GPC3
|
[NCBI]
|
0.000266107
|
|
|
KAL1
|
[NCBI]
|
0.000265691
|
|
|
USH1C
|
[NCBI]
|
0.000264239
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
0.000264239
|
|
|
HIDS
|
[NCBI]
|
0.000263864
|
|
|
PQBP1
|
[NCBI]
|
0.00026362
|
|
|
RPS6KA3
|
[NCBI]
|
0.000261457
|
|
|
CDG1A
|
[NCBI]
|
0.000260579
|
|
|
USH2C
|
[NCBI]
|
0.000259758
|
|
|
aplasia cutis congenita with epibulbar dermoids
|
[NCBI]
|
0.000259758
|
|
|
TRPS3
|
[NCBI]
|
0.000259758
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
0.000259758
|
|
|
USH1C
|
[NCBI]
|
0.000256581
|
|
|
polycystic kidneys
|
[NCBI]
|
0.000255393
|
|
|
synovitis, granulomatous, with uveitis and cranial neuropathies
|
[NCBI]
|
0.000254404
|
|
|
IGAD1
|
[NCBI]
|
0.000253038
|
|
|
TBX3
|
[NCBI]
|
0.000247885
|
|
|
currarino syndrome
|
[NCBI]
|
0.000247562
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
0.000247562
|
|
|
CVID
|
[NCBI]
|
0.000247045
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000245363
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000245363
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
0.000245363
|
|
|
WAS
|
[NCBI]
|
0.00024528
|
|
|
brugada syndrome 1
|
[NCBI]
|
0.000241864
|
|
|
ZEB2
|
[NCBI]
|
0.000235132
|
|
|
CDPX2
|
[NCBI]
|
0.000235114
|
|
|
FGD1
|
[NCBI]
|
0.000234696
|
|
|
gordon syndrome
|
[NCBI]
|
0.000233716
|
|
|
PCA
|
[NCBI]
|
0.000233716
|
|
|
spiegler-brooke syndrome
|
[NCBI]
|
0.000233716
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.000233716
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
0.00023299
|
|
|
OPD1
|
[NCBI]
|
0.00023299
|
|
|
feingold syndrome
|
[NCBI]
|
0.00023299
|
|
|
SLSN1
|
[NCBI]
|
0.000232141
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.000228101
|
|
|
ROR2
|
[NCBI]
|
0.000228054
|
|
|
SCDO1
|
[NCBI]
|
0.000227466
|
|
|
WSS
|
[NCBI]
|
0.00022719
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
0.00022719
|
|
|
FFS
|
[NCBI]
|
0.00022719
|
|
|
PTEN
|
[NCBI]
|
0.000225695
|
|
|
GRB10
|
[NCBI]
|
0.000224439
|
|
|
IRF6
|
[NCBI]
|
0.0002216
|
|
|
USH2A
|
[NCBI]
|
0.0002216
|
|
|
muckle-wells syndrome
|
[NCBI]
|
0.000220051
|
|
|
FTNS
|
[NCBI]
|
0.000220051
|
|
|
GIST
|
[NCBI]
|
0.000219541
|
|
|
GCS1
|
[NCBI]
|
0.000216458
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
0.000216458
|
|
|
PTHS
|
[NCBI]
|
0.000216458
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
0.000216458
|
|
|
AFP
|
[NCBI]
|
0.000214485
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000214382
|
|
|
marshall-smith syndrome
|
[NCBI]
|
0.000214382
|
|
|
RSMD1
|
[NCBI]
|
0.000214159
|
|
|
SYNS1
|
[NCBI]
|
0.000211761
|
|
|
RENS1
|
[NCBI]
|
0.000211761
|
|
|
APOE
|
[NCBI]
|
0.000211186
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
0.000210177
|
|
|
OPTB3
|
[NCBI]
|
0.000210177
|
|
|
IPEX
|
[NCBI]
|
0.000210177
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
0.000208421
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000208401
|
|
|
FCAS
|
[NCBI]
|
0.000207926
|
|
|
OFC1
|
[NCBI]
|
0.000207857
|
|
|
opitz syndrome
|
[NCBI]
|
0.00020752
|
|
|
char syndrome
|
[NCBI]
|
0.00020752
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.00020752
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
0.00020752
|
|
|
HHF6
|
[NCBI]
|
0.00020752
|
|
|
POMT1
|
[NCBI]
|
0.00020666
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.00020626
|
|
|
sclerotylosis
|
[NCBI]
|
0.000202663
|
|
|
HMN7A
|
[NCBI]
|
0.000202663
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000202663
|
|
|
periodic fever, familial, autosomal dominant
|
[NCBI]
|
0.000201949
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000197869
|
|
|
GJB2
|
[NCBI]
|
0.0001978
|
|
|
GFAP
|
[NCBI]
|
0.000193724
|
|
|
FA
|
[NCBI]
|
0.000193659
|
|
|
MNS
|
[NCBI]
|
0.000192822
|
|
|
PMDS
|
[NCBI]
|
0.000190823
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
0.000190823
|
|
|
MODY
|
[NCBI]
|
0.000190327
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
0.000189155
|
|
|
WARBM
|
[NCBI]
|
0.000189155
|
|
|
elejalde disease
|
[NCBI]
|
0.000189155
|
|
|
TRMA
|
[NCBI]
|
0.000188222
|
|
|
SLC19A2
|
[NCBI]
|
0.000186507
|
|
|
CACP
|
[NCBI]
|
0.000186491
|
|
|
CHD7
|
[NCBI]
|
0.000183953
|
|
|
THRB
|
[NCBI]
|
0.000182773
|
|
|
pyle disease
|
[NCBI]
|
0.000180759
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000180759
|
|
|
hypokalemia, familial
|
[NCBI]
|
0.000180759
|
|
|
onychotrichodysplasia and neutropenia
|
[NCBI]
|
0.000180759
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.000180759
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000180759
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000180759
|
|
|
TKCR
|
[NCBI]
|
0.000180759
|
|
|
AMMECR1
|
[NCBI]
|
0.000180759
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.000180759
|
|
|
bullous dystrophy, hereditary macular type
|
[NCBI]
|
0.000180759
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
0.000179344
|
|
|
TTDP
|
[NCBI]
|
0.000179344
|
|
|
TIMM8A
|
[NCBI]
|
0.000178212
|
|
|
CEP290
|
[NCBI]
|
0.000178212
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
0.000177002
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.000176747
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
0.000176747
|
|
|
ODDD
|
[NCBI]
|
0.000176012
|
|
|
aglossia-adactylia
|
[NCBI]
|
0.000173798
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
0.000173798
|
|
|
frasier syndrome
|
[NCBI]
|
0.000173798
|
|
|
MONA
|
[NCBI]
|
0.000173798
|
|
|
SPS
|
[NCBI]
|
0.000173798
|
|
|
c-like syndrome
|
[NCBI]
|
0.000173798
|
|
|
LOCS
|
[NCBI]
|
0.000173162
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
0.000173162
|
|
|
gurrieri syndrome
|
[NCBI]
|
0.000173162
|
|
|
say syndrome
|
[NCBI]
|
0.000173162
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
0.000173162
|
|
|
ivic syndrome
|
[NCBI]
|
0.000173162
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
0.000173162
|
|
|
gombo syndrome
|
[NCBI]
|
0.000173162
|
|
|
USH1F
|
[NCBI]
|
0.000173162
|
|
|
PWS
|
[NCBI]
|
0.000173114
|
|
|
NGFB
|
[NCBI]
|
0.000171668
|
|
|
SPINK5
|
[NCBI]
|
0.000171013
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000170578
|
|
|
catel-manzke syndrome
|
[NCBI]
|
0.000170379
|
|
|
vacterl association with hydrocephalus, x-linked
|
[NCBI]
|
0.000170379
|
|
|
ARX
|
[NCBI]
|
0.000170375
|
|
|
NHS
|
[NCBI]
|
0.00016934
|
|
|
HRPT2
|
[NCBI]
|
0.00016934
|
|
|
COH1
|
[NCBI]
|
0.000168536
|
|
|
VPS33B
|
[NCBI]
|
0.000168536
|
|
|
CTS1
|
[NCBI]
|
0.000168436
|
|
|
CDH23
|
[NCBI]
|
0.00016814
|
|
|
MPO
|
[NCBI]
|
0.000167216
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
0.000166872
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
0.000166278
|
|
|
FMF
|
[NCBI]
|
0.000166219
|
|
|
PXE
|
[NCBI]
|
0.000165926
|
|
|
MJD
|
[NCBI]
|
0.000164733
|
|
|
three m syndrome
|
[NCBI]
|
0.000164582
|
|
|
RNS
|
[NCBI]
|
0.000164582
|
|
|
KAL2
|
[NCBI]
|
0.000164221
|
|
|
NOG
|
[NCBI]
|
0.00016413
|
|
|
FDH
|
[NCBI]
|
0.000161543
|
|
|
SCS
|
[NCBI]
|
0.000161543
|
|
|
RAB27A
|
[NCBI]
|
0.000158946
|
|
|
COL11A1
|
[NCBI]
|
0.000158946
|
|
|
MHA
|
[NCBI]
|
0.000158054
|
|
|
NETH
|
[NCBI]
|
0.000157531
|
|
|
SCCMS
|
[NCBI]
|
0.000157531
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000155307
|
|
|
GS1
|
[NCBI]
|
0.000155307
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
0.000155307
|
|
|
HRAS
|
[NCBI]
|
0.000154665
|
|
|
PCDH15
|
[NCBI]
|
0.000153777
|
|
|
cataract and cardiomyopathy
|
[NCBI]
|
0.000151299
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
0.000150895
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000150895
|
|
|
young syndrome
|
[NCBI]
|
0.000150895
|
|
|
keutel syndrome
|
[NCBI]
|
0.000150895
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.000150895
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
0.000150895
|
|
|
acrofacial dysostosis syndrome of rodriguez
|
[NCBI]
|
0.000150895
|
|
|
EPO
|
[NCBI]
|
0.000150802
|
|
|
AMH
|
[NCBI]
|
0.000150612
|
|
|
HRPT2
|
[NCBI]
|
0.000149507
|
|
|
omenn syndrome
|
[NCBI]
|
0.000149507
|
|
|
FLNA
|
[NCBI]
|
0.000149303
|
|
|
SHFLD1
|
[NCBI]
|
0.000149248
|
|
|
APS2
|
[NCBI]
|
0.000149248
|
|
|
EBP
|
[NCBI]
|
0.000149052
|
|
|
MRD
|
[NCBI]
|
0.000148455
|
|
|
SCN5A
|
[NCBI]
|
0.000147345
|
|
|
PTH
|
[NCBI]
|
0.000145493
|
|
|
CMM
|
[NCBI]
|
0.000145012
|
|
|
SLC12A3
|
[NCBI]
|
0.000144701
|
|
|
CDS
|
[NCBI]
|
0.00014435
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
0.00014435
|
|
|
HLXB9
|
[NCBI]
|
0.000143809
|
|
|
YWHAE
|
[NCBI]
|
0.000143809
|
|
|
SBDS
|
[NCBI]
|
0.000143809
|
|
|
CRH
|
[NCBI]
|
0.000143179
|
|
|
TINU
|
[NCBI]
|
0.000142706
|
|
|
gitelman syndrome
|
[NCBI]
|
0.000142706
|
|
|
CLPED1
|
[NCBI]
|
0.000142706
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
0.000142706
|
|
|
MYO5A
|
[NCBI]
|
0.0001425
|
|
|
POR
|
[NCBI]
|
0.0001425
|
|
|
BBS
|
[NCBI]
|
0.000140844
|
|
|
MBP
|
[NCBI]
|
0.000138832
|
|
|
LMNA
|
[NCBI]
|
0.000137234
|
|
|
MEB
|
[NCBI]
|
0.000137009
|
|
|
MSS
|
[NCBI]
|
0.000136349
|
|
|
TFAP2B
|
[NCBI]
|
0.000136206
|
|
|
HIC1
|
[NCBI]
|
0.000136206
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
0.000135767
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000135767
|
|
|
VUR1
|
[NCBI]
|
0.000134217
|
|
|
EDMD
|
[NCBI]
|
0.000134179
|
|
|
JBTS3
|
[NCBI]
|
0.000134151
|
|
|
arthrogryposis, renal dysfunction, and cholestasis
|
[NCBI]
|
0.000134151
|
|
|
short syndrome
|
[NCBI]
|
0.000134151
|
|
|
phace association
|
[NCBI]
|
0.000134151
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
0.000134151
|
|
|
jejunal atresia with microcephaly and ocular anomalies
|
[NCBI]
|
0.000133765
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
0.000133765
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
0.000133765
|
|
|
barber-say syndrome
|
[NCBI]
|
0.000133765
|
|
|
MKS3
|
[NCBI]
|
0.000133765
|
|
|
scalp-ear-nipple syndrome
|
[NCBI]
|
0.000133765
|
|
|
recombinant chromosome 8 syndrome
|
[NCBI]
|
0.000133765
|
|
|
hemangiomas, cavernous, of face and supraumbilical midline raphe
|
[NCBI]
|
0.000133765
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
0.000133765
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
0.000133765
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
0.000133765
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.000133765
|
|
|
aprosencephaly syndrome
|
[NCBI]
|
0.000133765
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
0.000131894
|
|
|
IRID2
|
[NCBI]
|
0.000131894
|
|
|
GS2
|
[NCBI]
|
0.000131894
|
|
|
GHR
|
[NCBI]
|
0.000131794
|
|
|
MYH8
|
[NCBI]
|
0.000130861
|
|
|
TTDN1
|
[NCBI]
|
0.000130861
|
|
|
DCX
|
[NCBI]
|
0.000130672
|
|
|
COL18A1
|
[NCBI]
|
0.000130672
|
|
|
FLCN
|
[NCBI]
|
0.000130672
|
|
|
PAFAH1B1
|
[NCBI]
|
0.000130104
|
|
|
crisponi syndrome
|
[NCBI]
|
0.000129868
|
|
|
gastrointestinal abnormalities, multiple
|
[NCBI]
|
0.000129868
|
|
|
aarskog syndrome
|
[NCBI]
|
0.000129868
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
0.000129868
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
0.000129868
|
|
|
fountain syndrome
|
[NCBI]
|
0.000129868
|
|
|
ichthyosis--cheek--eyebrow syndrome
|
[NCBI]
|
0.000129868
|
|
|
acrorenal syndrome, autosomal recessive
|
[NCBI]
|
0.000129868
|
|
|
fetal akinesia syndrome, x-linked
|
[NCBI]
|
0.000129868
|
|
|
JBTS5
|
[NCBI]
|
0.000129868
|
|
|
cardiogenital syndrome
|
[NCBI]
|
0.000129868
|
|
|
camera-marugo-cohen syndrome
|
[NCBI]
|
0.000129868
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
0.000129868
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
0.000129868
|
|
|
al-gazali syndrome
|
[NCBI]
|
0.000129868
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000129868
|
|
|
spondylometaphyseal dysplasia with dentinogenesis imperfecta
|
[NCBI]
|
0.000129868
|
|
|
fibrosis of extraocular muscles, congenital, with synergistic divergence
|
[NCBI]
|
0.000129868
|
|
|
peeling skin syndrome, acral type
|
[NCBI]
|
0.000129868
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
0.000129868
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
0.000129868
|
|
|
TCC
|
[NCBI]
|
0.000129868
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
0.000129868
|
|
|
chands
|
[NCBI]
|
0.000129868
|
|
|
hypotonia-cystinuria syndrome
|
[NCBI]
|
0.000129868
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
0.000129868
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
0.000129868
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
0.000129868
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
0.000129868
|
|
|
larsen-like syndrome, lethal type
|
[NCBI]
|
0.000129868
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
0.000128861
|
|
|
MCOPS3
|
[NCBI]
|
0.000127974
|
|
|
WHSC2
|
[NCBI]
|
0.000126395
|
|
|
RAB3GAP1
|
[NCBI]
|
0.000126395
|
|
|
LETM1
|
[NCBI]
|
0.000126395
|
|
|
MKS1
|
[NCBI]
|
0.000126395
|
|
|
RNASEH2A
|
[NCBI]
|
0.000126395
|
|
|
PREPL
|
[NCBI]
|
0.000126395
|
|
|
FOXP3
|
[NCBI]
|
0.000126276
|
|
|
ACCPN
|
[NCBI]
|
0.000122444
|
|
|
leber optic atrophy
|
[NCBI]
|
0.000121558
|
|
|
TH
|
[NCBI]
|
0.000121524
|
|
|
TBCE
|
[NCBI]
|
0.000121449
|
|
|
CRLF1
|
[NCBI]
|
0.000121449
|
|
|
SKI
|
[NCBI]
|
0.000121449
|
|
|
EIF2AK3
|
[NCBI]
|
0.000121449
|
|
|
CHRNA1
|
[NCBI]
|
0.000121276
|
|
|
COL11A2
|
[NCBI]
|
0.000121276
|
|
|
GLUD1
|
[NCBI]
|
0.000121276
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
0.00012091
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
0.000120883
|
|
|
winchester syndrome
|
[NCBI]
|
0.000120883
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
0.000120883
|
|
|
reifenstein syndrome
|
[NCBI]
|
0.000120883
|
|
|
AHDS
|
[NCBI]
|
0.000120852
|
|
|
septooptic dysplasia
|
[NCBI]
|
0.000120852
|
|
|
SOX10
|
[NCBI]
|
0.00011862
|
|
|
scleroderma, familial progressive
|
[NCBI]
|
0.00011837
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000117718
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000117718
|
|
|
NPY
|
[NCBI]
|
0.000117406
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000116777
|
|
|
microtia-anotia
|
[NCBI]
|
0.000116777
|
|
|
CNC2
|
[NCBI]
|
0.000116777
|
|
|
WT1
|
[NCBI]
|
0.000114719
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
0.000114304
|
|
|
myoclonic epilepsy, neonatal, with suppression-burst pattern
|
[NCBI]
|
0.000114069
|
|
|
AHI1
|
[NCBI]
|
0.000113991
|
|
|
stickler syndrome, type i, nonsyndromic ocular
|
[NCBI]
|
0.000113577
|
|
|
STL3
|
[NCBI]
|
0.000113577
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
0.000113577
|
|
|
ramon syndrome
|
[NCBI]
|
0.000113577
|
|
|
carney triad
|
[NCBI]
|
0.000113577
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.000111892
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000111892
|
|
|
SOX9
|
[NCBI]
|
0.000111386
|
|
|
sjogren syndrome
|
[NCBI]
|
0.000110318
|
|
|
por deficiency
|
[NCBI]
|
0.000109906
|
|
|
muenke syndrome
|
[NCBI]
|
0.000109906
|
|
|
hyperferritinemia-cataract syndrome
|
[NCBI]
|
0.000109906
|
|
|
BLM
|
[NCBI]
|
0.000108392
|
|
|
PLOSL
|
[NCBI]
|
0.000108254
|
|
|
EFNB1
|
[NCBI]
|
0.000107798
|
|
|
TGFBR1
|
[NCBI]
|
0.000107798
|
|
|
CHS
|
[NCBI]
|
0.000107579
|
|
|
MADA
|
[NCBI]
|
0.000107123
|
|
|
SJS1
|
[NCBI]
|
0.000106753
|
|
|
WGN1
|
[NCBI]
|
0.000106568
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
0.000105791
|
|
|
HMI
|
[NCBI]
|
0.000105601
|
|
|
MLPH
|
[NCBI]
|
0.00010418
|
|
|
TGM5
|
[NCBI]
|
0.00010418
|
|
|
TMEM67
|
[NCBI]
|
0.00010418
|
|
|
AMHR2
|
[NCBI]
|
0.00010418
|
|
|
pfeiffer syndrome
|
[NCBI]
|
0.000104094
|
|
|
AS
|
[NCBI]
|
0.000103693
|
|
|
BDNF
|
[NCBI]
|
0.000103429
|
|
|
OD
|
[NCBI]
|
0.000103122
|
|
|
GAMT
|
[NCBI]
|
0.000103073
|
|
|
OPMD
|
[NCBI]
|
0.000102534
|
|
|
MPI
|
[NCBI]
|
0.0001025
|
|
|
TREX1
|
[NCBI]
|
0.0001025
|
|
|
donohue syndrome
|
[NCBI]
|
0.000102458
|
|
|
MELAS
|
[NCBI]
|
0.000102458
|
|
|
ACHE
|
[NCBI]
|
0.000102092
|
|
|
PMD
|
[NCBI]
|
0.000101491
|
|
|
DKC1
|
[NCBI]
|
0.000101046
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
0.00010057
|
|
|
epstein syndrome
|
[NCBI]
|
0.00010057
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
0.00010057
|
|
|
HHS
|
[NCBI]
|
0.00010057
|
|
|
TSD
|
[NCBI]
|
0.000100247
|
|
|
BOS1
|
[NCBI]
|
9.97893e-05
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
9.91567e-05
|
|
|
CINCA
|
[NCBI]
|
9.91567e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
9.91567e-05
|
|
|
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
|
[NCBI]
|
9.91567e-05
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
9.91567e-05
|
|
|
TTDN1
|
[NCBI]
|
9.91567e-05
|
|
|
STL2
|
[NCBI]
|
9.91567e-05
|
|
|
SQT1
|
[NCBI]
|
9.91567e-05
|
|
|
HGPPS
|
[NCBI]
|
9.91567e-05
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
9.91567e-05
|
|
|
MVK
|
[NCBI]
|
9.84104e-05
|
|
|
CCK
|
[NCBI]
|
9.67859e-05
|
|
|
HFM
|
[NCBI]
|
9.62765e-05
|
|
|
ATR
|
[NCBI]
|
9.59228e-05
|
|
|
HPS
|
[NCBI]
|
9.57067e-05
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
9.45672e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
eem syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
CHBL
|
[NCBI]
|
9.45672e-05
|
|
|
sarcoidosis, early-onset
|
[NCBI]
|
9.45672e-05
|
|
|
TS
|
[NCBI]
|
9.45672e-05
|
|
|
PTLS
|
[NCBI]
|
9.45672e-05
|
|
|
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
[NCBI]
|
9.45672e-05
|
|
|
lig4 syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
9.45672e-05
|
|
|
OODD
|
[NCBI]
|
9.45672e-05
|
|
|
lazy leukocyte syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
9.45672e-05
|
|
|
cardiomyopathy, congestive, with hypergonadotropic hypogonadism
|
[NCBI]
|
9.45672e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
9.45672e-05
|
|
|
nevo syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
9.45672e-05
|
|
|
roifman syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
9.45672e-05
|
|
|
majeed syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
9.45672e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
DMD
|
[NCBI]
|
9.39025e-05
|
|
|
AT
|
[NCBI]
|
9.38272e-05
|
|
|
HPS1
|
[NCBI]
|
9.37623e-05
|
|
|
NLRP3
|
[NCBI]
|
9.37623e-05
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
9.36209e-05
|
|
|
PHF6
|
[NCBI]
|
9.3233e-05
|
|
|
PSTPIP1
|
[NCBI]
|
9.3233e-05
|
|
|
MED12
|
[NCBI]
|
9.3233e-05
|
|
|
MTTW
|
[NCBI]
|
9.3233e-05
|
|
|
ESCO2
|
[NCBI]
|
9.3233e-05
|
|
|
SLC25A15
|
[NCBI]
|
9.3233e-05
|
|
|
constricting bands, congenital
|
[NCBI]
|
9.23341e-05
|
|
|
OSCS
|
[NCBI]
|
9.1592e-05
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
9.1592e-05
|
|
|
krabbe disease
|
[NCBI]
|
9.1116e-05
|
|
|
cataract, congenital, with mental impairment and dentate gyrus atrophy
|
[NCBI]
|
9.03531e-05
|
|
|
DFNA41
|
[NCBI]
|
9.03531e-05
|
|
|
hypercalciuria, absorptive, 1
|
[NCBI]
|
9.03531e-05
|
|
|
convulsions, benign familial infantile, 2
|
[NCBI]
|
9.03531e-05
|
|
|
blepharophimosis with ptosis, syndactyly, and short stature
|
[NCBI]
|
9.03531e-05
|
|
|
osteodysplasia, familial, anderson type
|
[NCBI]
|
9.03531e-05
|
|
|
brachydactyly, combined b and e types
|
[NCBI]
|
9.03531e-05
|
|
|
synostosis, carpal, with dysplastic elbow joints and brachydactyly
|
[NCBI]
|
9.03531e-05
|
|
|
hydrocephalus, autosomal dominant
|
[NCBI]
|
9.03531e-05
|
|
|
lelis syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
natural killer cell deficiency, familial isolated
|
[NCBI]
|
9.03531e-05
|
|
|
cleft palate-lateral synechia syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
polymicrogyria, unilateral
|
[NCBI]
|
9.03531e-05
|
|
|
otodental dysplasia
|
[NCBI]
|
9.03531e-05
|
|
|
MGS
|
[NCBI]
|
9.03531e-05
|
|
|
hypomandibular faciocranial dysostosis
|
[NCBI]
|
9.03531e-05
|
|
|
histiocytosis with joint contractures and sensorineural deafness
|
[NCBI]
|
9.03531e-05
|
|
|
doughnut lesions of skull, familial
|
[NCBI]
|
9.03531e-05
|
|
|
CRSA
|
[NCBI]
|
9.03531e-05
|
|
|
anorectal anomalies
|
[NCBI]
|
9.03531e-05
|
|
|
cerebrohepatorenal syndrome, variant types
|
[NCBI]
|
9.03531e-05
|
|
|
MRSD
|
[NCBI]
|
9.03531e-05
|
|
|
pterygium, antecubital
|
[NCBI]
|
9.03531e-05
|
|
|
joint laxity, familial
|
[NCBI]
|
9.03531e-05
|
|
|
NYS4
|
[NCBI]
|
9.03531e-05
|
|
|
HHG
|
[NCBI]
|
9.03531e-05
|
|
|
mesomelia-synostoses syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
oslam syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
epilepsy, myoclonic, benign adult familial, type 2
|
[NCBI]
|
9.03531e-05
|
|
|
epilepsy, partial, with variable foci
|
[NCBI]
|
9.03531e-05
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
9.03531e-05
|
|
|
MRXS7
|
[NCBI]
|
9.03531e-05
|
|
|
parkinsonism, early-onset, with mental retardation
|
[NCBI]
|
9.03531e-05
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
9.03531e-05
|
|
|
DNMT3B
|
[NCBI]
|
8.92089e-05
|
|
|
CMH
|
[NCBI]
|
8.85308e-05
|
|
|
DRRS
|
[NCBI]
|
8.79741e-05
|
|
|
FMD
|
[NCBI]
|
8.79741e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
8.7921e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
8.7921e-05
|
|
|
HMS
|
[NCBI]
|
8.7921e-05
|
|
|
GRTH
|
[NCBI]
|
8.7921e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
8.7921e-05
|
|
|
lujan-fryns syndrome
|
[NCBI]
|
8.7921e-05
|
|
|
CD40LG
|
[NCBI]
|
8.71833e-05
|
|
|
TGFBR2
|
[NCBI]
|
8.71833e-05
|
|
|
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly
|
[NCBI]
|
8.6576e-05
|
|
|
AGS2
|
[NCBI]
|
8.6576e-05
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia
|
[NCBI]
|
8.6576e-05
|
|
|
spastic paresis, glaucoma, and mental retardation
|
[NCBI]
|
8.6576e-05
|
|
|
trichodental dysplasia
|
[NCBI]
|
8.6576e-05
|
|
|
spondyloocular syndrome, autosomal recessive
|
[NCBI]
|
8.6576e-05
|
|
|
chromosome 9q subtelomeric deletion syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
opticoacoustic nerve atrophy with dementia
|
[NCBI]
|
8.6576e-05
|
|
|
ophthalmoplegic neuromuscular disorder with abnormal mitochondria
|
[NCBI]
|
8.6576e-05
|
|
|
MKS4
|
[NCBI]
|
8.6576e-05
|
|
|
pallister w syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
frontoocular syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
RDC
|
[NCBI]
|
8.6576e-05
|
|
|
JBTS4
|
[NCBI]
|
8.6576e-05
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
8.6576e-05
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
craniomicromelic syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
[NCBI]
|
8.6576e-05
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
8.6576e-05
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
8.6576e-05
|
|
|
histiocytic dermatoarthritis
|
[NCBI]
|
8.6576e-05
|
|
|
deafness-oligodontia syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
S PEAK SYNDROME
|
[NCBI]
|
8.6576e-05
|
|
|
hirsutism--skeletal dysplasia--mental retardation syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
8.6576e-05
|
|
|
contractures, congenital, torticollis, and malignant hyperthermia
|
[NCBI]
|
8.6576e-05
|
|
|
LCCS2
|
[NCBI]
|
8.6576e-05
|
|
|
retinitis pigmentosa, deafness, mental retardation, and hypogonadism
|
[NCBI]
|
8.6576e-05
|
|
|
mcdonough syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
rombo syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
microcephaly and digital abnormalities with normal intelligence
|
[NCBI]
|
8.6576e-05
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
ectrodactyly-cleft palate syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
eyebrows, duplication of, with stretchable skin and syndactyly
|
[NCBI]
|
8.6576e-05
|
|
|
epiphyseal dysplasia, multiple, with myopia and conductive deafness
|
[NCBI]
|
8.6576e-05
|
|
|
AOIII
|
[NCBI]
|
8.6576e-05
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
carney complex variant
|
[NCBI]
|
8.6576e-05
|
|
|
AGS4
|
[NCBI]
|
8.6576e-05
|
|
|
bruck syndrome 2
|
[NCBI]
|
8.6576e-05
|
|
|
pterygium colli and mental retardation with facial and digital anomalies
|
[NCBI]
|
8.6576e-05
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
8.6576e-05
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
cahmr syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
[NCBI]
|
8.6576e-05
|
|
|
subaortic stenosis--short stature syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
MRXS14
|
[NCBI]
|
8.6576e-05
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
8.6576e-05
|
|
|
tonoki syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
achalasia-microcephaly syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
8.6576e-05
|
|
|
hyperostosis frontalis interna
|
[NCBI]
|
8.6576e-05
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
8.6576e-05
|
|
|
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
|
[NCBI]
|
8.6576e-05
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
sebaceous nevus syndrome and hemimegalencephaly
|
[NCBI]
|
8.6576e-05
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
megalencephaly, mega corpus callosum, and complete lack of motor development
|
[NCBI]
|
8.6576e-05
|
|
|
DHS
|
[NCBI]
|
8.6576e-05
|
|
|
pelviscapular dysplasia
|
[NCBI]
|
8.6576e-05
|
|
|
GS3
|
[NCBI]
|
8.6576e-05
|
|
|
microcephaly-cardiomyopathy
|
[NCBI]
|
8.6576e-05
|
|
|
aredyld
|
[NCBI]
|
8.6576e-05
|
|
|
revesz syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
8.6576e-05
|
|
|
JBTS7
|
[NCBI]
|
8.6576e-05
|
|
|
tn syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
lambert syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
situs inversus totalis with cystic dysplasia of kidneys and pancreas
|
[NCBI]
|
8.6576e-05
|
|
|
faciocardiorenal syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
holoprosencephaly with fetal akinesia/hypokinesia sequence
|
[NCBI]
|
8.6576e-05
|
|
|
external auditory canal, bilateral atresia of, with congenital vertical talus
|
[NCBI]
|
8.6576e-05
|
|
|
craniorhiny
|
[NCBI]
|
8.6576e-05
|
|
|
sener syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
MRXS10
|
[NCBI]
|
8.6576e-05
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
8.6576e-05
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
8.6576e-05
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
8.6576e-05
|
|
|
NSX
|
[NCBI]
|
8.6576e-05
|
|
|
karak syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
summitt syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
8.6576e-05
|
|
|
CSA
|
[NCBI]
|
8.6305e-05
|
|
|
NSDHL
|
[NCBI]
|
8.54862e-05
|
|
|
NPHP4
|
[NCBI]
|
8.54862e-05
|
|
|
TMAU
|
[NCBI]
|
8.53467e-05
|
|
|
LDS
|
[NCBI]
|
8.53467e-05
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
8.53467e-05
|
|
|
ERCC2
|
[NCBI]
|
8.52487e-05
|
|
|
RNASEH2C
|
[NCBI]
|
8.42588e-05
|
|
|
KPNA2
|
[NCBI]
|
8.42588e-05
|
|
|
TBX4
|
[NCBI]
|
8.42588e-05
|
|
|
PPM1B
|
[NCBI]
|
8.42588e-05
|
|
|
antigen defined by monoclonal antibody f10.44.2
|
[NCBI]
|
8.42588e-05
|
|
|
EHMT1
|
[NCBI]
|
8.42588e-05
|
|
|
UPF3B
|
[NCBI]
|
8.42588e-05
|
|
|
RNASEH2B
|
[NCBI]
|
8.42588e-05
|
|
|
ZFP37
|
[NCBI]
|
8.42588e-05
|
|
|
RPGRIP1L
|
[NCBI]
|
8.42588e-05
|
|
|
FGFR3
|
[NCBI]
|
8.28658e-05
|
|
|
KFSD
|
[NCBI]
|
8.27787e-05
|
|
|
AHC
|
[NCBI]
|
8.2542e-05
|
|
|
LWD
|
[NCBI]
|
8.1599e-05
|
|
|
THAS
|
[NCBI]
|
8.13091e-05
|
|
|
LCAT
|
[NCBI]
|
8.11383e-05
|
|
|
FMO3
|
[NCBI]
|
8.08284e-05
|
|
|
SALL4
|
[NCBI]
|
8.08284e-05
|
|
|
CHH
|
[NCBI]
|
8.02535e-05
|
|
|
PCD
|
[NCBI]
|
8.00772e-05
|
|
|
PJS
|
[NCBI]
|
7.9807e-05
|
|
|
SLS
|
[NCBI]
|
7.95483e-05
|
|
|
SHANK3
|
[NCBI]
|
7.94528e-05
|
|
|
TREM2
|
[NCBI]
|
7.94528e-05
|
|
|
FANCB
|
[NCBI]
|
7.94528e-05
|
|
|
VLDLRCH
|
[NCBI]
|
7.87496e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
7.87496e-05
|
|
|
MSX1
|
[NCBI]
|
7.82117e-05
|
|
|
SLC2A1
|
[NCBI]
|
7.82117e-05
|
|
|
AIED
|
[NCBI]
|
7.7978e-05
|
|
|
subglottic bar
|
[NCBI]
|
7.76433e-05
|
|
|
MLASA
|
[NCBI]
|
7.76433e-05
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
7.76433e-05
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
7.76433e-05
|
|
|
TCPT
|
[NCBI]
|
7.76433e-05
|
|
|
holzgreve syndrome
|
[NCBI]
|
7.76433e-05
|
|
|
myelocerebellar disorder
|
[NCBI]
|
7.76433e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
7.76433e-05
|
|
|
BWS
|
[NCBI]
|
7.75994e-05
|
|
|
FFI
|
[NCBI]
|
7.678e-05
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
7.52196e-05
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
7.52196e-05
|
|
|
FEB1
|
[NCBI]
|
7.52196e-05
|
|
|
MTTK
|
[NCBI]
|
7.5196e-05
|
|
|
MUC1
|
[NCBI]
|
7.46668e-05
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
7.45649e-05
|
|
|
OFD9
|
[NCBI]
|
7.45649e-05
|
|
|
trichorrhexis nodosa syndrome
|
[NCBI]
|
7.45649e-05
|
|
|
OSCS
|
[NCBI]
|
7.45649e-05
|
|
|
acanthosis nigricans
|
[NCBI]
|
7.45649e-05
|
|
|
malignant atrophic papulosis
|
[NCBI]
|
7.45649e-05
|
|
|
parkinsonism with alveolar hypoventilation and mental depression
|
[NCBI]
|
7.45649e-05
|
|
|
MEST
|
[NCBI]
|
7.4506e-05
|
|
|
LPIN2
|
[NCBI]
|
7.4506e-05
|
|
|
BCS1L
|
[NCBI]
|
7.4506e-05
|
|
|
TNFSF6
|
[NCBI]
|
7.43182e-05
|
|
|
PHOX2B
|
[NCBI]
|
7.34972e-05
|
|
|
TG
|
[NCBI]
|
7.33153e-05
|
|
|
diabetes mellitus, insulin-resistant, with acanthosis nigricans
|
[NCBI]
|
7.33073e-05
|
|
|
GRTH
|
[NCBI]
|
7.33073e-05
|
|
|
danubian endemic familial nephropathy
|
[NCBI]
|
7.27314e-05
|
|
|
TNFRSF6
|
[NCBI]
|
7.23211e-05
|
|
|
SGCE
|
[NCBI]
|
7.13588e-05
|
|
|
CDG1B
|
[NCBI]
|
7.10374e-05
|
|
|
BDB1
|
[NCBI]
|
7.10374e-05
|
|
|
BPP
|
[NCBI]
|
7.10374e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
7.10374e-05
|
|
|
ND
|
[NCBI]
|
7.09573e-05
|
|
|
MKKS
|
[NCBI]
|
7.03151e-05
|
|
|
TRPS1
|
[NCBI]
|
7.03151e-05
|
|
|
WHSC1
|
[NCBI]
|
7.03151e-05
|
|
|
DGUOK
|
[NCBI]
|
7.03151e-05
|
|
|
TAF1
|
[NCBI]
|
7.03151e-05
|
|
|
CACNA1C
|
[NCBI]
|
7.03151e-05
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
6.97105e-05
|
|
|
CAT
|
[NCBI]
|
6.96992e-05
|
|
|
MFS
|
[NCBI]
|
6.96032e-05
|
|
|
MNGIE
|
[NCBI]
|
6.93819e-05
|
|
|
MTTL1
|
[NCBI]
|
6.87873e-05
|
|
|
EA1
|
[NCBI]
|
6.81529e-05
|
|
|
bartter syndrome, antenatal, type 2
|
[NCBI]
|
6.81529e-05
|
|
|
SCA1
|
[NCBI]
|
6.77045e-05
|
|
|
TCOF1
|
[NCBI]
|
6.74425e-05
|
|
|
PRG4
|
[NCBI]
|
6.66819e-05
|
|
|
NS1
|
[NCBI]
|
6.60102e-05
|
|
|
witkop syndrome
|
[NCBI]
|
6.59376e-05
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
6.59376e-05
|
|
|
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
|
[NCBI]
|
6.59376e-05
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
6.59376e-05
|
|
|
JPHT
|
[NCBI]
|
6.59376e-05
|
|
|
BJS
|
[NCBI]
|
6.59376e-05
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
6.59376e-05
|
|
|
DFNB18
|
[NCBI]
|
6.59376e-05
|
|
|
desmosterolosis
|
[NCBI]
|
6.59376e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
6.59376e-05
|
|
|
native american myopathy
|
[NCBI]
|
6.59376e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
6.59376e-05
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
6.59376e-05
|
|
|
SMC
|
[NCBI]
|
6.59376e-05
|
|
|
MTATP6
|
[NCBI]
|
6.59177e-05
|
|
|
PANK2
|
[NCBI]
|
6.56406e-05
|
|
|
AIS
|
[NCBI]
|
6.54249e-05
|
|
|
MTTV
|
[NCBI]
|
6.54211e-05
|
|
|
CHRNB1
|
[NCBI]
|
6.54211e-05
|
|
|
DLX3
|
[NCBI]
|
6.54211e-05
|
|
|
SLC25A1
|
[NCBI]
|
6.54211e-05
|
|
|
ANTXR2
|
[NCBI]
|
6.54211e-05
|
|
|
CNTN4
|
[NCBI]
|
6.54211e-05
|
|
|
CUL7
|
[NCBI]
|
6.54211e-05
|
|
|
FGFR1
|
[NCBI]
|
6.51551e-05
|
|
|
JPS
|
[NCBI]
|
6.4641e-05
|
|
|
vater association
|
[NCBI]
|
6.44158e-05
|
|
|
MCOPS9
|
[NCBI]
|
6.44158e-05
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
6.44158e-05
|
|
|
gracile syndrome
|
[NCBI]
|
6.44158e-05
|
|
|
OSMED
|
[NCBI]
|
6.44158e-05
|
|
|
HIGM1
|
[NCBI]
|
6.41918e-05
|
|
|
WFS1
|
[NCBI]
|
6.40491e-05
|
|
|
LCA1
|
[NCBI]
|
6.25173e-05
|
|
|
TWIST1
|
[NCBI]
|
6.07499e-05
|
|
|
GATA3
|
[NCBI]
|
6.06148e-05
|
|
|
BCNS
|
[NCBI]
|
5.98889e-05
|
|
|
ACH
|
[NCBI]
|
5.98783e-05
|
|
|
CHAT
|
[NCBI]
|
5.94954e-05
|
|
|
VDR
|
[NCBI]
|
5.93332e-05
|
|
|
MVA
|
[NCBI]
|
5.91663e-05
|
|
|
IH
|
[NCBI]
|
5.91196e-05
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
5.91196e-05
|
|
|
ETL2
|
[NCBI]
|
5.91196e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
5.86423e-05
|
|
|
DLL3
|
[NCBI]
|
5.80292e-05
|
|
|
MC2R
|
[NCBI]
|
5.80292e-05
|
|
|
TNFRSF11B
|
[NCBI]
|
5.75568e-05
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
5.7519e-05
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
5.7519e-05
|
|
|
ADFN
|
[NCBI]
|
5.7519e-05
|
|
|
CARASIL
|
[NCBI]
|
5.7519e-05
|
|
|
optic atrophy 1 and deafness
|
[NCBI]
|
5.70258e-05
|
|
|
vasculopathy, retinal, with cerebral leukodystrophy
|
[NCBI]
|
5.70258e-05
|
|
|
naegeli syndrome
|
[NCBI]
|
5.70258e-05
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
5.70258e-05
|
|
|
HCCS
|
[NCBI]
|
5.69863e-05
|
|
|
USH1G
|
[NCBI]
|
5.69863e-05
|
|
|
SMOH
|
[NCBI]
|
5.69863e-05
|
|
|
PUS1
|
[NCBI]
|
5.69863e-05
|
|
|
CHML
|
[NCBI]
|
5.69863e-05
|
|
|
FRAS1
|
[NCBI]
|
5.69863e-05
|
|
|
kindlin 1
|
[NCBI]
|
5.69863e-05
|
|
|
CUL4B
|
[NCBI]
|
5.69863e-05
|
|
|
ARL6
|
[NCBI]
|
5.69863e-05
|
|
|
SHOX2
|
[NCBI]
|
5.69863e-05
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
5.68349e-05
|
|
|
ALPS2A
|
[NCBI]
|
5.6784e-05
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
hypomagnesemia, renal, with ocular involvement
|
[NCBI]
|
5.6784e-05
|
|
|
ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
|
[NCBI]
|
5.6784e-05
|
|
|
steatocystoma multiplex with natal teeth
|
[NCBI]
|
5.6784e-05
|
|
|
parathyroid carcinoma
|
[NCBI]
|
5.6784e-05
|
|
|
myotubular myopathy with abnormal genital development
|
[NCBI]
|
5.6784e-05
|
|
|
GUD
|
[NCBI]
|
5.6784e-05
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
5.6784e-05
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
5.6784e-05
|
|
|
abcd syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
5.6784e-05
|
|