Search results for "mental retardation syndrome"

The MalaCard for "mental retardation syndrome" has been retired.
Searching MalaCards for entries containing "mental retardation syndrome"

2030 hits were found for 'mental retardation syndrome'

# Family MCID Name MIFTS Score
1
RNP001 Renpenning Syndrome 48 4.275
2
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 3.981
3
P MNT135 Mental Retardation, X-Linked, Syndromic 13 31 3.938
4
c MNT109 Mental Retardation, X-Linked, Syndromic 15 31 3.811
5
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 3.741
6
P FRG001 Fragile X Syndrome 68 3.622
7
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 29 3.113
8
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 3.090
9
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 29 3.073
10
c MNT230 Mental Retardation, X-Linked Syndromic 5 32 3.034
11
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 2.984
12
WLS004 Wilson-Turner Syndrome 30 2.963
13
MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 31 2.932
14
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 22 2.899
15
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 39 2.834
16
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 30 2.826
17
BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 27 2.800
18
P MWT001 Mowat-Wilson Syndrome 46 2.797
19
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 2.797
20
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 27 2.783
21
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 27 2.706
22
PRT003 Partington Syndrome 42 2.692
23
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 31 2.668
24
WGR001 Wagr Syndrome 52 2.526
25
CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 18 2.515
26
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26 2.505
27
MLS002 Miles-Carpenter X-Linked Mental Retardation Syndrome 23 2.479
28
WDH003 Woodhouse-Sakati Syndrome 41 2.470
29
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 32 2.456
30
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 2.434
31
c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 19 2.412
32
MSS001 Masa Syndrome 49 2.388
33
c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 26 2.380
34
WSM002 Waisman Syndrome 33 2.380
35
c MNT207 Mental Retardation, X-Linked, Syndromic 32 24 2.350
36
MNT112 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 27 2.335
37
c XLN042 X-Linked Mental Retardation 21 23 2.325
38
MNT232 Mental Retardation, X-Linked Syndromic, Raymond Type 20 2.323
39
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 27 2.283
40
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 41 2.282
41
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 2.281
42
GLL028 Gillespie Syndrome 40 2.281
43
c MNT155 Mental Retardation, Autosomal Recessive 2 21 2.275
44
P MNT203 Mental Retardation, X-Linked 30/47 17 2.275
45
P BRT040 Baraitser-Winter Syndrome 31 2.203
46
ARM006 Armfield X-Linked Mental Retardation Syndrome 18 2.171
47
SSM001 Sesame Syndrome 53 2.168
48
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23 2.167
49
c MNT149 Mental Retardation, X-Linked 3 31 2.165
50
CWC001 Cowchock Syndrome 35 2.157
51
ABD008 Abidi X-Linked Mental Retardation Syndrome 18 2.152
52
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 19 2.147
53
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 16 2.144
54
c MNT196 Mental Retardation, X-Linked 92 18 2.138
55
c MNT150 Mental Retardation, Autosomal Recessive 15 21 2.126
56
c MNT151 Mental Retardation, Autosomal Recessive 18 18 2.126
57
KBG001 Kbg Syndrome 49 2.110
58
c BRT038 Baraitser-Winter Syndrome 1 34 2.095
59
SCH022 Schimke X-Linked Mental Retardation Syndrome 12 2.075
60
MNT068 Mental Retardation, X-Linked, Fraxe Type 19 2.044
61
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 36 2.010
62
MDN005 Mednik Syndrome 37 1.996
63
c MNT185 Mental Retardation, Autosomal Dominant 7 24 1.992
64
c MNT191 Mental Retardation, X-Linked, Syndromic 17 18 1.989
65
c MNT157 Mental Retardation, Autosomal Dominant 18 20 1.982
66
c MNT154 Mental Retardation, Autosomal Recessive 14 23 1.980
67
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 18 1.970
68
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 17 1.968
69
XLN134 X-Linked Intellectual Disability, Siderius Type 17 1.968
70
ART002 Arts Syndrome 53 1.953
71
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 14 1.953
72
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 1.940
73
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 19 1.937
74
WLF012 Wolff Mental Retardation Syndrome 21 1.931
75
c MNT171 Mental Retardation, Autosomal Dominant 17 22 1.902
76
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22 1.871
77
c MNT226 Mental Retardation, Autosomal Dominant 31 20 1.864
78
P CFF001 Coffin-Siris Syndrome 50 1.862
79
FLP001 Filippi Syndrome 26 1.840
80
CFF002 Coffin-Lowry Syndrome 55 1.836
81
c MNT249 Mental Retardation, X-Linked 12/35 21 1.836
82
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 1.831
83
ART103 Arthrogryposis, Mental Retardation, and Seizures 21 1.828
84
TMP011 Temple-Baraitser Syndrome 30 1.822
85
c MNT166 Mental Retardation, Autosomal Recessive 39 19 1.821
86
c MNT159 Mental Retardation, Autosomal Dominant 19 20 1.820
87
c MNT169 Mental Retardation, Autosomal Recessive, 37 21 1.818
88
c MNT183 Mental Retardation, Autosomal Recessive 36 19 1.818
89
c MNT216 Mental Retardation, Autosomal Recessive 41 19 1.818
90
c MNT156 Mental Retardation, Autosomal Dominant 14 22 1.818
91
c MNT153 Mental Retardation, Autosomal Dominant 15 21 1.817
92
c MNT152 Mental Retardation, Autosomal Dominant 16 21 1.817
93
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 1.809
94
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 22 1.800
95
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 17 1.780
96
c MNT197 Mental Retardation, X-Linked, Syndromic 9 17 1.777
97
MNT030 Mental Retardation Syndrome, Belgian Type 14 1.775
98
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 17 1.774
99
CHM006 Chime Syndrome 33 1.770
100
ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 17 1.766
101
P RBN001 Rubinstein-Taybi Syndrome 65 1.761
102
SYN082 Syndromic X-Linked Intellectual Disability Shashi Type 9 1.759
103
c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 14 1.759
104
MNT260 Mental Retardation, X-Linked, Syndromic, Wilson-Turner Type 11 1.744
105
c SPS020 Spastic Paraplegia 1 23 1.729
106
HRD035 Hair Defect with Photosensitivity and Mental Retardation 14 1.727
107
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 21 1.716
108
GNT031 Genitopatellar Syndrome 39 1.711
109
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 1.689
110
CHR543 Chromosome 2q37 Deletion Syndrome 29 1.688
111
XLN025 X-Linked Mental Retardation Gustavson Type 5 1.660
112
MNT029 Mental Retardation Spasticity Ectrodactyly 5 1.651
113
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17 1.649
114
c MNT241 Mental Retardation, Autosomal Dominant 32 20 1.646
115
c MNT213 Mental Retardation, Autosomal Recessive 40 20 1.644
116
c MNT211 Mental Retardation, Autosomal Dominant 23 20 1.644
117
c MNT179 Mental Retardation, Autosomal Dominant 21 19 1.644
118
c MNT212 Mental Retardation, Autosomal Dominant 26 19 1.643
119
JWD001 Jawad Syndrome 32 1.624
120
PCD002 Pcdh19-Related Female-Limited Epilepsy 12 1.623
121
2Q3002 2q37 Microdeletion Syndrome 9 1.615
122
ALP035 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 22 1.609
123
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 45 1.609
124
OLV004 Oliver-Mcfarlane Syndrome 31 1.601
125
HMM004 Hamamy Syndrome 23 1.595
126
CLB014 Coloboma, Cleft Lip/palate and Mental Retardation Syndrome 7 1.589
127
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 30 1.575
128
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 10 1.570
129
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 14 1.566
130
P FNG005 Feingold Syndrome 43 1.563
131
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 1.557
132
SCT004 Scott Bryant Graham Syndrome 13 1.556
133
BLB005 Beaulieu-Boycott-Innes Syndrome 22 1.555
134
HLL013 Hall-Riggs Mental Retardation Syndrome 16 1.554
135
c SYN080 Syndromic X-Linked Intellectual Disability 34 12 1.551
136
MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 20 1.549
137
SLC019 Slc9a6-Related Syndromic Mental Retardation 11 1.547
138
c MNT246 Mental Retardation, Autosomal Dominant 38 19 1.545
139
P ALP076 Alopecia-Mental Retardation Syndrome 1 9 1.542
140
DRS004 Door Syndrome 41 1.540
141
HYP229 Hypospadias Mental Retardation Goldblatt Type 6 1.538
142
HLS003 Helsmoortel-Van Der Aa Syndrome 20 1.530
143
P FCL005 Focal Segmental Glomerulosclerosis 59 1.528
144
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 17 1.526
145
FLL034 Fallot Complex with Severe Mental and Growth Retardation 13 1.524
146
c MNT235 Mental Retardation, Autosomal Dominant 37 19 1.519
147
c ALP075 Alopecia-Mental Retardation Syndrome 2 8 1.514
148
c ALP063 Alopecia-Mental Retardation Syndrome 3 7 1.513
149
ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 5 1.509
150
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 12 1.506
151
AYM001 Ayme-Gripp Syndrome 45 1.501
152
c TRC102 Trichothiodystrophy 1, Photosensitive 49 1.498
153
SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 12 1.489
154
KFM001 Kaufman Oculocerebrofacial Syndrome 31 1.487
155
MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10 1.485
156
HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 14 1.483
157
HYD014 Hyde Forster Mccarthy Berry Syndrome 10 1.483
158
NCL006 Nicolaides-Baraitser Syndrome 39 1.473
159
CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 27 1.470
160
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22 1.461
161
c MNT248 Mental Retardation, X-Linked 102 22 1.459
162
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 17 1.451
163
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 41 1.449
164
c MNT234 Mental Retardation, Autosomal Recessive 48 17 1.446
165
SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 13 1.446
166
SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 13 1.440
167
TMT003 Temtamy Syndrome 26 1.429
168
PRT110 Prieto Syndrome 21 1.398
169
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 35 1.384
170
P SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 48 1.383
171
CHR580 Choroid Plexus Calcification and Mental Retardation 13 1.369
172
NNS032 Non-Syndromic X-Linked Intellectual Disability 29 1.347
173
LJN002 Lujan Syndrome 22 1.342
174
GLL032 Galloway-Mowat Syndrome 50 1.332
175
GMS002 Gms Syndrome 22 1.332
176
LSC001 Lesch-Nyhan Syndrome 61 1.331
177
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 21 1.324
178
HYP688 Hypospadias-Mental Retardation Syndrome 15 1.323
179
c ARD003 Arid1b-Related Coffin-Siris Syndrome 15 1.320
180
ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 23 1.317
181
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14 1.313
182
P HYP440 Hyperphosphatasia with Mental Retardation Syndrome 19 1.304
183
PRT055 Prieto X-Linked Mental Retardation Syndrome 15 1.303
184
ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 18 1.301
185
P WVR001 Weaver Syndrome 51 1.301
186
LJN003 Lujan-Fryns Syndrome 31 1.300
187
TRN026 Tranebjaerg Svejgaard Syndrome 7 1.299
188
DBW001 Dubowitz Syndrome 46 1.299
189
STC008 Stocco Dos Santos Syndrome 10 1.298
190
P SJG002 Sjogren-Larsson Syndrome 51 1.286
191
HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 16 1.282
192
HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 16 1.282
193
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 21 1.281
194
CHR506 Choroideremia, Deafness, and Mental Retardation 17 1.281
195
CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 11 1.276
196
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 19 1.276
197
c MNT265 Mental Retardation, X-Linked, Syndromic, 33 11 1.276
198
CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 19 1.276
199
MNT255 Mental Retardation and Psoriasis 17 1.274
200
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18 1.272
201
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 33 1.271
202
P PTT014 Pitt-Hopkins Syndrome 51 1.267
203
RTN075 Retinopathy Pigmentary Mental Retardation 6 1.264
204
MNT028 Mental Retardation Smith Fineman Myers Type 8 1.257
205
MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 9 1.255
206
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 9 1.255
207
ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 14 1.252
208
c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 10 1.249
209
CRN099 Craniosynostosis Mental Retardation Clefting Syndrome 7 1.249
210
MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 20 1.248
211
LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 13 1.246
212
PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 13 1.242
213
c ARD002 Arid1a-Related Coffin-Siris Syndrome 8 1.235
214
XLN162 X-Linked Intellectual Disability, Najm Type 9 1.232
215
c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 13 1.226
216
5Q2001 5q22 Deletion Syndrome 6 1.226
217
CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 10 1.214
218
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 1.212
219
GST054 Gustavson Syndrome 14 1.212
220
AMS002 Amish Infantile Epilepsy Syndrome 35 1.210
221
P WRB002 Warburg Micro Syndrome 1 37 1.210
222
c MNT239 Mental Retardation, Autosomal Dominant 35 18 1.209
223
c MNT245 Mental Retardation, Autosomal Dominant 36 17 1.209
224
EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15 1.209
225
MCR038 Macrogyria, Pseudobulbar Palsy and Mental Retardation 3 1.209
226
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 1.203
227
CRY028 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 16 1.203
228
c MNT181 Mental Retardation, Autosomal Recessive 35 16 1.199
229
MNT256 Mental Retardation, Buenos Aires Type 15 1.199
230
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 15 1.199
231
TMT002 Temtamy Preaxial Brachydactyly Syndrome 29 1.197
232
INT090 Intellectual Deficit Buenos-Aires Type 5 1.189
233
ALL001 Allan-Herndon-Dudley Syndrome 47 1.181
234
WDM004 Wiedemann-Steiner Syndrome 39 1.152
235
SYB002 Say-Barber-Biesecker Variant of Ohdo Syndrome 11 1.148
236
BLP010 Blepharophimosis Intellectual Disability Syndromes 16 1.144
237
RRD001 Reardon Wilson Cavanagh Syndrome 7 1.138
238
NSY001 N Syndrome 39 1.135
239
AKS001 Akesson Syndrome 8 1.135
240
OHD003 Ohdo Syndrome, X-Linked 23 1.124
241
LBN005 Lubani-Al Saleh-Teebi Syndrome 6 1.116
242
ALD006 Aldred Syndrome 5 1.107
243
RCH002 Richards-Rundle Syndrome 23 1.106
244
FTZ005 Fitzsimmons-Guilbert Syndrome 20 1.085
245
KND003 Kondoh Syndrome 10 1.073
246
DBR002 De Barsy Syndrome 24 1.072
247
CRT027 Cartwright Nelson Fryns Syndrome 4 1.070
248
KHR001 Kahrizi Syndrome 21 1.070
249
2Q3001 2q37 Deletion Syndrome 10 1.067
250
OLV002 Oliver Syndrome 44 1.065
251
GRR002 Gurrieri Syndrome 20 1.061
252
c MCR262 Microphthalmia, Syndromic 4 20 1.061
253
P ALP068 Alopecia-Intellectual Disability Syndrome 15 1.058
254
MGL033 Megalocornea-Mental Retardation Syndrome 22 1.053
255
CKS001 Ck Syndrome 29 1.051
256
BHR001 Behr Syndrome 44 1.047
257
FGS004 Fg Syndrome 4 27 1.045
258
MCR052 Microcephaly Microcornea Syndrome Seemanova Type 16 1.045
259
MCR306 Microcephaly-Deafness Syndrome 15 1.044
260
MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 7 1.036
261
XGB001 Xia-Gibbs Syndrome 16 1.033
262
ZLT002 Zlotogora Syndrome 9 1.026
263
PLL004 Pallister W Syndrome 17 1.024
264
OCL043 Oculorenocerebellar Syndrome 15 1.023
265
MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 16 1.023
266
c BMN004 Biemond Syndrome Ii 14 1.022
267
MGL027 Megalocornea-Intellectual Disability Syndrome 10 1.013
268
c DFN036 Deafness, X-Linked 2 33 1.009
269
MCR066 Microcephaly-Cardiomyopathy 18 1.007
270
c SYN078 Syndromic X-Linked Intellectual Disability Type 10 13 1.004
271
MCD002 Mcdonough Syndrome 25 1.003
272
BRK011 Brooks-Wisniewski-Brown Syndrome 19 1.003
273
OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 6 1.003
274
OST149 Osteolysis Syndrome, Recessive 16 1.001
275
MTP004 Metaphyseal Acroscyphodysplasia 18 0.999
276
5Q1001 5q14.3 Microdeletion Syndrome 7 0.990
277
LWR016 Lowry-Maclean Syndrome 18 0.989
278
BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 13 0.979
279
OST047 Osteopenia and Sparse Hair 14 0.972
280
CDL001 Caudal Appendage Deafness 12 0.972
281
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 29 0.972
282
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 29 0.972
283
ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 13 0.971
284
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 34 0.969
285
CHD003 Chudley Rozdilsky Syndrome 7 0.969
286
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 14 0.967
287
c ALP081 Alopecia Intellectual Disability Syndrome 2 7 0.967
288
MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 15 0.966
289
MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 13 0.966
290
CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 14 0.965
291
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 14 0.965
292
ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 11 0.965
293
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 15 0.965
294
PLT011 Pilotto Syndrome 17 0.961
295
SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 13 0.961
296
TKN001 Takenouchi-Kosaki Syndrome 15 0.959
297
WDM002 Wiedemann Oldigs Oppermann Syndrome 4 0.959
298
c SYN056 Syndromic X-Linked Intellectual Disability 7 16 0.954
299
SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 8 0.953
300
XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 7 0.951
301
c SYN019 Syndactyly Type 1 with Cataracts and Mental Retardation 5 0.950
302
ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 4 0.950
303
GRX001 Grix Blankenship Peterson Syndrome 14 0.949
304
KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4 0.949
305
WGR002 Wagro Syndrome 10 0.949
306
DVS001 Davis Lafer Syndrome 4 0.949
307
SMT020 Smith-Kingsmore Syndrome 18 0.948
308
SNG001 Singh Chhaparwal Dhanda Syndrome 3 0.948
309
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 44 0.947
310
c ALD008 Aldh18a1-Related Cutis Laxa 15 0.945
311
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 0.945
312
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 15 0.938
313
HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 17 0.934
314
ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 13 0.933
315
BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 13 0.930
316
BTT012 Battaglia-Neri Syndrome 6 0.927
317
TNK001 Tonoki Syndrome 5 0.927
318
RMS002 Ramos Arroyo Clark Syndrome 4 0.926
319
RZC001 Ruzicka Goerz Anton Syndrome 4 0.922
320
INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 9 0.922
321
c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 25 0.921
322
DVR003 Devriendt Syndrome 8 0.918
323
CMR003 Camera Marugo Cohen Syndrome 7 0.918
324
CLR029 Clark-Baraitser Syndrome 11 0.917
325
SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 7 0.917
326
KRN006 Karandikar Maria Kamble Syndrome 5 0.917
327
PFF002 Pfeiffer Kapferer Syndrome 5 0.917
328
WLK002 Walker Dyson Syndrome 6 0.916
329
KZL006 Kozlowski-Krajewska Syndrome 5 0.916
330
CNT052 Cantalamessa Baldini Ambrosi Syndrome 4 0.916
331
KSZ002 Kosztolanyi Syndrome 4 0.916
332
PFF003 Pfeiffer Mayer Syndrome 4 0.916
333
PSS001 Passos-Bueno Syndrome 6 0.915
334
KNR001 Koone Rizzo Elias Syndrome 4 0.915
335
PSS002 Piussan Lenaerts Mathieu Syndrome 4 0.915
336
ZRR001 Zerres Rietschel Majewski Syndrome 4 0.915
337
ZZM001 Zazam Sheriff Phillips Syndrome 4 0.915
338
DKR001 Duker Weiss Siber Syndrome 3 0.915
339
FNG007 Feingold Trainer Syndrome 3 0.915
340
KZL003 Kozlowski Ouvrier Syndrome 3 0.915
341
HRD065 Hordnes Engebretsen Knudtson Syndrome 3 0.915
342
PLN009 Palant Cleft Palate Syndrome 3 0.915
343
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 17 0.913
344
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 7 0.912
345
EPL162 Epilepsy-Telangiectasia 16 0.911
346
DXT003 Dextrocardia with Unusual Facies and Microphthalmia 9 0.911
347
BRT020 Baraitser Rodeck Garner Syndrome 3 0.910
348
PLY042 Polyneuropathy Mental Retardation Acromicria Premature Menopause 5 0.908
349
MNT250 Mental Retardation with Spastic Paraplegia 11 0.904
350
CRN079 Craniodigital Syndrome Mental Retardation 3 0.899
351
ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 5 0.898
352
PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3 0.898
353
ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 14 0.898
354
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 0.895
355
MNT025 Mental Retardation Short Stature Deafness Genital 3 0.895
356
ULN022 Ulnar Hypoplasia with Mental Retardation 12 0.890
357
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 14 0.887
358
NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 10 0.887
359
SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 9 0.887
360
XLN128 X-Linked Intellectual Disability, Abidi Type 7 0.880
361
c MRN006 Marinesco-Sjogren-Like Syndrome 4 0.873
362
AMP011 Ampola Syndrome 4 0.873
363
c SPS018 Spastic Diplegia Infantile Type 19 0.869
364
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 0.869
365
SPS047 Spastic Paraplegia with Precocious Puberty 12 0.868
366
AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 7 0.868
367
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6 0.868
368
P INT063 Intellectual Disability 53 0.249
369
P MCR010 Microcephaly 58 0.223
370
P EPL164 Epilepsy 66 0.220
371
PSY004 Psychotic Disorder 67 0.214
372
DSS008 Disease of Mental Health 55 0.173
373
P OBS005 Obesity 93 0.163
374
P ATX004 Ataxia 53 0.162
375
P HYP265 Hypotonia 39 0.157
376
CRB009 Cerebritis 38 0.153
377
P SCH015 Schizophrenia 76 0.150
378
P ATS049 Autism Susceptibility, X-Linked 2 35 0.143
379
SPS057 Spasticity 42 0.143
380
ALR002 Al-Raqad Syndrome 36 0.142
381
RTN023 Retinitis 49 0.140
382
DWN001 Down Syndrome 65 0.138
383
NRN002 Neuronitis 42 0.134
384
P CTR002 Cataract 57 0.132
385
MYL009 Myelodysplastic Syndrome 74 0.129
386
TTR016 Tetra-Amelia Syndrome 36 0.122
387
P RTT002 Rett Syndrome 78 0.119
388
P PLY011 Polycystic Ovary Syndrome 66 0.119
389
LRN003 Learning Disability 51 0.118
390
HPT074 Hepatic Adenoma, Somatic 51 0.117
391
HYP080 Hypogonadism 54 0.117
392
P HRT032 Heart Disease 76 0.116
393
HNM002 Hinman Syndrome 25 0.115
394
CHL071 Child Syndrome 58 0.115
395
P HPT021 Hepatitis 70 0.114
396
AND005 Androgen Insensitivity Syndrome, Mild 16 0.112
397
P THL005 Thalassemia 61 0.111
398
P PRD006 Prader-Willi Syndrome 63 0.111
399
KDS001 Kid Syndrome 53 0.110
400
P ENC018 Encephalopathy 59 0.109
401
P MSC005 Muscular Dystrophy 64 0.108
402
CND002 Conduct Disorder 56 0.108
403
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.107
404
P BRC006 Brachydactyly 52 0.107
405
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.106
406
CLF001 Cleft Lip 49 0.104
407
ANX002 Anxiety Disorder 69 0.104
408
P SHR029 Short Syndrome 60 0.104
409
P MYP004 Myopathy 67 0.102
410
P PTS002 Ptosis 56 0.102
411
P LKM002 Leukemia 70 0.101
412
P ANG001 Angelman Syndrome 61 0.099
413
EXF001 Exfoliation Syndrome 57 0.098
414
P PLY006 Polydactyly 55 0.097
415
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.097
416
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.097
417
P BPL003 Bipolar Disorder 62 0.096
418
CSY001 C Syndrome 49 0.095
419
P CRB042 Cerebellar Ataxia 64 0.094
420
P THY032 Thyroiditis 54 0.094
421
SLP005 Sleep Disorder 53 0.094
422
P ANT006 Antiphospholipid Syndrome 58 0.093
423
P CRD011 Cardiomyopathy 67 0.093
424
c BRN108 Branchiootic Syndrome 1 36 0.093
425
P NRP001 Neuropathy 60 0.091
426
P TRN020 Turner Syndrome 64 0.091
427
BLP004 Blepharophimosis 39 0.091
428
P PLN008 Peeling Skin Syndrome 47 0.090
429
P SYN064 Syndromic X-Linked Intellectual Disability 24 0.090
430
P CRN037 Craniosynostosis 65 0.089
431
ANR002 Aniridia 60 0.088
432
HYP077 Hypertrichosis 52 0.087
433
ALP008 Alopecia 55 0.087
434
OBS015 Obesity, Hyperphagia, and Developmental Delay 46 0.087
435
PRP016 Paraplegia 49 0.087
436
P CSH001 Cushing's Syndrome 64 0.086
437
SMT004 Smith-Lemli-Opitz Syndrome 67 0.086
438
P ALP004 Alport Syndrome 68 0.086
439
WLL001 Williams-Beuren Syndrome 61 0.086
440
INS024 Insulin-Like Growth Factor I 74 0.085
441
DRG001 Drug Psychosis 40 0.084
442
DWR001 Dwarfism 46 0.084
443
WST001 West Syndrome 61 0.084
444
WLL006 Wells Syndrome 56 0.084
445
P FTL001 Fetal Alcohol Syndrome 53 0.083
446
P PRS038 Personality Disorder 61 0.083
447
P EHL001 Ehlers-Danlos Syndrome 61 0.083
448
DMN002 Dementia 64 0.082
449
MCR013 Microphthalmia 59 0.082
450
ATS001 Autistic Disorder 59 0.082
451
P HYP086 Hypothyroidism 65 0.081
452
GNG013 Gingivitis 60 0.081
453
P CRV039 Cervicitis 44 0.081
454
PRV006 Pervasive Developmental Disorder 50 0.081
455
PHY002 Physical Disorder 44 0.081
456
P ATS007 Autism Spectrum Disorder 64 0.080
457
P LYM118 Lymphoma 70 0.080
458
DYS018 Dysostosis 44 0.080
459
NTR005 Nutritional Deficiency Disease 39 0.080
460
P TRM003 Tremor 54 0.079
461
P ART022 Arthritis 75 0.079
462
P HYD006 Hydrocephalus 67 0.079
463
END072 Endotheliitis 42 0.078
464
HLL004 Hellp Syndrome 49 0.077
465
MVM001 Movement Disease 54 0.077
466
GDS001 Good Syndrome 45 0.077
467
GRW007 Growth Hormone Deficiency 48 0.077
468
CRB045 Cerebellar Hypoplasia 48 0.077
469
MNT014 Mental Retardation Epilepsy 22 0.077
470
MRG013 Mirage Syndrome 26 0.076
471
P HYP060 Hyperinsulinism 59 0.076
472
ATT013 Attention Deficit-Hyperactivity Disorder 68 0.076
473
PRD011 Proud Syndrome 42 0.076
474
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 56 0.075
475
NRL004 Neuroleptic Malignant Syndrome 45 0.075
476
RST001 Restless Legs Syndrome 54 0.075
477
P SZR006 Seizure Disorder 57 0.075
478
P BRD002 Bardet-Biedl Syndrome 62 0.074
479
ECT006 Ectodermal Dysplasia 47 0.074
480
P HYP024 Hypoparathyroidism 52 0.074
481
CLF004 Cleft Lip/palate 46 0.074
482
SNS001 Sensorineural Hearing Loss 57 0.073
483
P SLV001 Silver-Russell Syndrome 54 0.073
484
CRB037 Cerebral Palsy 54 0.073
485
P SPS003 Spastic Diplegia 53 0.073
486
ANR040 Aneurysm 57 0.073
487
SPC010 Speech and Communication Disorders 46 0.073
488
THR013 Thoracic Outlet Syndrome 49 0.073
489
ACD009 Acid-Labile Subunit, Deficiency of 48 0.072
490
P SCL018 Scoliosis 56 0.072
491
GLC008 Glucose Metabolism Disease 47 0.072
492
WBR001 Weber Syndrome 37 0.072
493
CHN016 Cohen Syndrome 55 0.072
494
BRT030 Birth Defects 43 0.071
495
P LYN001 Lynch Syndrome 69 0.071
496
P SLP006 Sleep Apnea 61 0.071
497
MNT189 Mental Retardation, X-Linked 29 and Others 22 0.071
498
P HYP055 Hypoplastic Left Heart Syndrome 60 0.070
499
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.070
500
P PNC044 Pancreatitis 60 0.070
501
P THR014 Thrombocytopenia 64 0.070
502
P RTN008 Retinitis Pigmentosa 79 0.069
503
SMT008 Smith-Magenis Syndrome 51 0.069
504
P CRN211 Coronary Artery Disease 75 0.068
505
c PLN021 Peeling Skin Syndrome 3 31 0.068
506
URB001 Urbach-Wiethe Disease 48 0.068
507
KLN001 Klinefelter's Syndrome 55 0.068
508
OBS061 Obstructive Sleep Apnea 66 0.068
509
SXL003 Sexual Disorder 47 0.067
510
ATH003 Atherosclerosis 62 0.067
511
AND015 Androgen Insensitivity 63 0.067
512
c PLN018 Peeling Skin Syndrome 2 35 0.067
513
ADJ001 Adjustment Disorder 38 0.067
514
P GND004 Gonadal Dysgenesis 53 0.067
515
P WSK001 Wiskott-Aldrich Syndrome 72 0.067
516
WRN001 Werner Syndrome 67 0.066
517
BRN106 Burns 52 0.066
518
P PNM007 Pneumonia 66 0.066
519
c PND001 Pain Disorder 55 0.066
520
CST001 Costello Syndrome 69 0.066
521
SYN005 Synostosis 45 0.066
522
PTZ001 Peutz-Jeghers Syndrome 70 0.066
523
AMN006 Aminoaciduria 42 0.065
524
CRY002 Cryptorchidism 62 0.065
525
SKL017 Skeletal Dysplasias 45 0.065
526
PLY023 Polycystic Liver Disease 57 0.065
527
GND003 Gonadal Disease 43 0.065
528
SKL014 Skeletal Dysplasia 46 0.064
529
ACR041 Acromelic Frontonasal Dysostosis 46 0.064
530
LCK001 Locked-in Syndrome 38 0.064
531
P MYC007 Myocardial Infarction 79 0.064
532
ART111 Artery Disease 57 0.064
533
PCK002 Pick Disease 67 0.063
534
CLN019 Colonic Disease 50 0.063
535
CHR103 Charge Syndrome 64 0.063
536
LNN001 Lennox-Gastaut Syndrome 54 0.063
537
P INT068 Intestinal Disease 61 0.063
538
HV1006 Hiv-1 82 0.062
539
P CTS012 Cutis Verticis Gyrata 18 0.062
540
P PLY019 Polyneuropathy 54 0.062
541
P CTS001 Cutis Laxa 59 0.062
542
P OVR049 Ovarian Disease 55 0.062
543
P BRS047 Breast Cancer 100 0.062
544
P ESP024 Esophagitis 62 0.062
545
PRS047 Prostatitis 56 0.062
546
FML039 Female Reproductive System Disease 48 0.061
547
NRM005 Neuromuscular Disease 57 0.061
548
c SYS001 Systemic Lupus Erythematosus 87 0.061
549
P DRR001 Diarrhea 51 0.061
550
P LGH007 Leigh Syndrome 70 0.061
551
P DYS154 Dystonia 64 0.061
552
SPC003 Specific Developmental Disorder 40 0.061
553
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.061
554
c PLN017 Peeling Skin Syndrome 1 33 0.060
555
P HYP040 Hypospadias 57 0.060
556
MYC033 Myoclonus 41 0.060
557
P RHM011 Rheumatoid Arthritis 88 0.060
558
P MNN013 Meningitis 65 0.060
559
STR067 Stroke, Ischemic 77 0.060
560
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.059
561
BRN071 Brain Injury 52 0.059
562
BLD053 Blood Platelet Disease 46 0.059
563
P CLR023 Colorectal Cancer 97 0.059
564
BLM001 Bloom Syndrome 62 0.059
565
PRN038 Prune Belly Syndrome 45 0.059
566
OBS002 Obsessive-Compulsive Disorder 66 0.059
567
P OVR042 Ovarian Cancer 75 0.058
568
P STR020 Strabismus 53 0.058
569
PLC008 Placenta Disease 36 0.058
570
P MSC033 Muscle Disorders 52 0.058
571
PHN003 Phenylketonuria 73 0.058
572
ALN001 Aland Island Eye Disease 45 0.058
573
FRY002 Fryns Syndrome 36 0.058
574
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 42 0.058
575
c MNT187 Mental Retardation, X-Linked 49 17 0.058
576
P CRN178 Coronary Heart Disease 6 24 0.058
577
P DRV001 Dravet Syndrome 68 0.057
578
P MCP010 Mucopolysaccharidosis 58 0.057
579
P HMR012 Hemorrhagic Fever 55 0.057
580
MGL003 Megalocornea 28 0.057
581
DFC004 Deficiency Anemia 65 0.057
582
ACR008 Acrocallosal Syndrome 51 0.057
583
KRN002 Kearns-Sayre Syndrome 59 0.057
584
P INF032 Infertility 61 0.057
585
MLK003 Melkersson-Rosenthal Syndrome 50 0.057
586
P LCT001 Lactic Acidosis 52 0.057
587
CCN007 Cocoon Syndrome 35 0.057
588
JHN001 Johanson-Blizzard Syndrome 46 0.057
589
P CHR084 Chromosomal Disease 37 0.057
590
PRP027 Peripheral Vascular Disease 69 0.057
591
ADP007 Adie Pupil 34 0.057
592
P LYM025 Lymphedema 61 0.056
593
P ALC004 Alcohol Abuse 60 0.056
594
c CNG124 Congenital Rubella 40 0.056
595
P NJM001 Nijmegen Breakage Syndrome 66 0.056
596
BSL008 Basal Ganglia Disease 43 0.056
597
BND014 Bone Development Disease 42 0.056
598
ADN018 Adenoma 59 0.056
599
P GLM007 Glomerulonephritis 56 0.056
600
P ALZ034 Alzheimer Disease 93 0.055
601
PLY024 Polymicrogyria 36 0.055
602
P KLP003 Klippel-Feil Syndrome 46 0.055
603
CNS004 Constipation 57 0.055
604
c BSL007 Basal Cell Carcinoma 64 0.055
605
ATN002 Autonomic Nervous System Disease 47 0.055
606
P OST002 Osteoporosis 64 0.055
607
CHR008 Choroiditis 43 0.055
608
CTS005 Catastrophic Antiphospholipid Syndrome 41 0.055
609
FBR019 Fibromatosis 42 0.054
610
ANG054 Angina Pectoris 51 0.054
611
P HYP083 Hypopituitarism 52 0.054
612
SXD001 Sex Differentiation Disease 40 0.054
613
CHD001 Chediak-Higashi Syndrome 64 0.054
614
SPR007 Superior Mesenteric Artery Syndrome 39 0.054
615
VSC007 Vascular Disease 67 0.054
616
DND001 Dandy-Walker Syndrome 44 0.054
617
FRG008 Fragile X-Associated Tremor/ataxia Syndrome 34 0.054
618
P DBT005 Diabetes Insipidus 53 0.054
619
APH002 Aphasia 53 0.053
620
VSL002 Visual Epilepsy 32 0.053
621
MSC004 Muscle Tissue Disease 36 0.053
622
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.053
623
P BDD001 Budd-Chiari Syndrome 56 0.053
624
MTH009 Mouth Disease 63 0.053
625
WTH001 Withdrawal Disorder 41 0.053
626
ABL002 Ablepharon-Macrostomia Syndrome 57 0.052
627
P TRC086 Trichohepatoenteric Syndrome 1 46 0.052
628
P LPD010 Lipodystrophy 52 0.052
629
IMG001 Image Syndrome 55 0.052
630
HNT002 Hantavirus Pulmonary Syndrome 51 0.052
631
DRM006 Dermatitis 61 0.052
632
BDY001 Body Dysmorphic Disorder 41 0.052
633
P FRS003 Fraser Syndrome 57 0.052
634
P ENC004 Encephalitis 61 0.052
635
P LNG032 Lung Cancer 94 0.052
636
INT007 Intermediate Coronary Syndrome 52 0.052
637
P RBL001 Rubella 56 0.052
638
P LVR013 Liver Disease 72 0.051
639
P PRM019 Premature Ovarian Failure 64 0.051
640
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.051
641
CRD002 Cri-Du-Chat Syndrome 48 0.051
642
ARC002 Arachnoiditis 38 0.051
643
PCH002 Pachygyria 36 0.051
644
FNC005 Functional Colonic Disease 30 0.051
645
GLC003 Glucose Intolerance 55 0.051
646
RPR002 Reproductive System Disease 46 0.051
647
P MTH007 Methemoglobinemia 45 0.051
648
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.051
649
c ACT075 Acute Myocardial Infarction 60 0.051
650
c CNG031 Congenital Nervous System Abnormality 39 0.051
651
P INF038 Influenza 74 0.050
652
ART021 Arteriosclerosis 59 0.050
653
CRP010 Corpus Callosum Agenesis 40 0.050
654
c MNT224 Mental Retardation, X-Linked 101 19 0.050
655
P WLF004 Wolfram Syndrome 61 0.050
656
BNS002 Bone Structure Disease 36 0.050
657
STF001 Stiff-Person Syndrome 56 0.050
658
P AST005 Asthma 82 0.050
659
P LSS002 Lissencephaly 49 0.050
660
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.050
661
OST015 Osteochondrodysplasia 53 0.050
662
c MNT218 Mental Retardation, X-Linked 99 16 0.049
663
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.049
664
P KLL001 Kallmann Syndrome 60 0.049
665
ART016 Aortic Aneurysm 67 0.049
666
P NNN008 Noonan Syndrome 1 67 0.049
667
P PRC019 Precocious Puberty 51 0.049
668
SPC005 Speech Disorder 43 0.049
669
GLB003 Globe Disease 35 0.049
670
AMN001 Amenorrhea 51 0.049
671
P ADN016 Adenocarcinoma 69 0.049
672
MBS002 Moebius Syndrome 44 0.049
673
c MNT223 Mental Retardation, X-Linked 100 22 0.049
674
MYH012 Myhre Syndrome 35 0.049
675
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 0.049
676
SMT006 Somatoform Disorder 53 0.049
677
P CRN139 Cornelia De Lange Syndrome 1 60 0.049
678
MRS004 Marshall-Smith Syndrome 41 0.049
679
P HLL001 Hallermann-Streiff Syndrome 53 0.048
680
QDR001 Quadriplegia 52 0.048
681
PSD009 Pseudohermaphroditism 40 0.048
682
P KRT007 Keratoconus 51 0.048
683
HYP043 Hyperandrogenism 48 0.048
684
P MYP006 Myopia 59 0.048
685
PRP030 Purpura 59 0.048
686
SKN023 Skin Tag 46 0.048
687
HMP005 Hemiplegia 54 0.048
688
P KLF001 Kleefstra Syndrome 39 0.048
689
MTS001 Mutism 40 0.048
690
c MNT145 Mental Retardation, Autosomal Recessive 5 22 0.048
691
ARC007 Arachnoid Cysts 38 0.047
692
HYP458 Hyper Ige Syndrome 41 0.047
693
SHW002 Shwachman-Diamond Syndrome 60 0.047
694
P CRP007 Carpenter Syndrome 49 0.047
695
P MTC069 Mitochondrial Disorders 52 0.047
696
c HRD010 Hereditary Spastic Paraplegia 65 0.047
697
P PNC001 Pancytopenia 52 0.047
698
CHR081 Choroideremia 53 0.047
699
P LRY019 Laryngitis 55 0.047
700
TCD001 Tic Disorder 49 0.047
701
VND001 Vein Disease 52 0.047
702
GST092 Gastroesophageal Reflux 61 0.047
703
P LYM026 Lymphoblastic Leukemia 60 0.046
704
P CRB088 Cerebral Atrophy 42 0.046
705
P HML002 Hemolytic Anemia 60 0.046
706
BHR002 Bohring-Opitz Syndrome 36 0.046
707
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22 0.046
708
c MNT144 Mental Retardation, Autosomal Dominant 6 22 0.046
709
MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 14 0.046
710
PLG005 Plagiocephaly and X-Linked Mental Retardation 6 0.046
711
GTL001 Gitelman Syndrome 60 0.046
712
P URF003 Urofacial Syndrome 1 52 0.046
713
P CRD013 Cardiofaciocutaneous Syndrome 63 0.046
714
c HRD026 Hereditary Ataxia 47 0.046
715
CRN245 Craniosynostosis, Philadelphia Type 50 0.046
716
ATN005 Autonomic Dysfunction 45 0.046
717
ACN002 Acanthosis Nigricans 57 0.046
718
ISL003 Isolated Growth Hormone Deficiency 44 0.046
719
c MCL062 Mucolipidosis Ii Alpha/beta 60 0.046
720
P KBK002 Kabuki Syndrome 1 49 0.045
721
P NTR004 Neutropenia 59 0.045
722
P ESC003 Escobar Syndrome 58 0.045
723
NNC002 Nance-Horan Syndrome 36 0.045
724
DCH001 Duchenne Muscular Dystrophy 80 0.045
725
LMR001 Lemierre's Syndrome 41 0.045
726
CTS003 Coats Disease 57 0.045
727
APH001 Aphthous Stomatitis 62 0.045
728
c MNT267 Mental Retardation, X-Linked 104 15 0.045
729
DVL001 Developmental Coordination Disorder 37 0.045
730
ACR012 Aicardi Syndrome 45 0.045
731
CLF027 Cleft Palate, Isolated 56 0.044
732
OHD004 Ohdo Syndrome 32 0.044
733
P RSP003 Respiratory Failure 70 0.044
734
CMP034 Complete Androgen Insensitivity Syndrome 42 0.044
735
SPS004 Spastic Quadriplegia 38 0.044
736
P SCK009 Seckel Syndrome 1 46 0.044
737
CCH002 Coach Syndrome 54 0.044
738
c MNT198 Mental Retardation, X-Linked 98 22 0.044
739
OPT006 Optic Nerve Disease 51 0.044
740
BRW006 Brown Syndrome 26 0.044
741
WLC001 Wolcott-Rallison Syndrome 40 0.044
742
RNL007 Renal Tubular Acidosis 50 0.044
743
YNG002 Young Syndrome 26 0.044
744
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.044
745
c MNT158 Mental Retardation, Autosomal Dominant 22 22 0.044
746
c MNT195 Mental Retardation, X-Linked 96 19 0.044
747
c MNT173 Mental Retardation, Autosomal Recessive 34 16 0.044
748
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 8 0.044
749
HYP066 Hyperglycemia 60 0.044
750
YLL001 Yellow Nail Syndrome 47 0.044
751
CRB025 Carbohydrate Metabolic Disorder 47 0.044
752
c CNG006 Congenital Hypothyroidism 59 0.044
753
RDS004 Rud Syndrome 13 0.044
754
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.044
755
HYP391 Hyperammonemia 39 0.044
756
PTT009 Pituitary Gland Disease 48 0.044
757
VND002 Van Der Woude Syndrome 51 0.044
758
P HYP087 Hypotrichosis 45 0.043
759
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 39 0.043
760
P MRD002 Marden-Walker Syndrome 46 0.043
761
SPS050 Spasticity Mental Retardation 10 0.043
762
MNT033 Mental Retardation X-Linked Dysmorphism 12 0.043
763
GND001 Gonadoblastoma 42 0.043
764
P SPN301 Spinocerebellar Ataxia 2 63 0.043
765
c CNG223 Congenital Methemoglobinemia 28 0.043
766
P ALX003 Alexander Disease 64 0.043
767
LND001 Landau-Kleffner Syndrome 36 0.043
768
ATR060 Atrial Standstill, Digenic 53 0.043
769
FST001 Foster-Kennedy Syndrome 34 0.043
770
ACN011 Acne 63 0.043
771
URN009 Urinary System Disease 53 0.043
772
CNG034 Congestive Heart Failure 71 0.042
773
EYD002 Eye Disease 63 0.042
774
P AMY004 Amyloidosis 64 0.042
775
ALB002 Albinism 43 0.042
776
c CNT035 Central Nervous System Disease 59 0.042
777
TWN003 Townes-Brocks Syndrome 53 0.042
778
LPR018 Leprechaunism 59 0.042
779
P CRB154 Cerebrocostomandibular Syndrome 34 0.042
780
STR015 Stereotypic Movement Disorder 38 0.042
781
STT001 Status Epilepticus 59 0.042
782
P RTN016 Retinal Degeneration 54 0.042
783
P ATX010 Ataxia Neuropathy Spectrum 28 0.042
784
BCK006 Back Pain 42 0.042
785
ACH005 Achalasia 54 0.042
786
HND003 Hand-Foot-Uterus Syndrome 47 0.042
787
CRB150 Cerebral Creatine Deficiency Syndrome 2 48 0.041
788
HMH002 Hemihypertrophy 39 0.041
789
ETH011 Ethylmalonic Encephalopathy 59 0.041
790
HYP064 Hypogonadotropism 38 0.041
791
P PRD008 Periodontitis 46 0.041
792
GYN001 Gynecomastia 49 0.041
793
CYS013 Cystinuria 63 0.041
794
ANT011 Antisocial Personality Disorder 47 0.041
795
CRH001 Crohn's Disease 76 0.041
796
SKN016 Skin Disease 68 0.041
797
ACR017 Acrofacial Dysostosis 20 0.041
798
P CRB059 Cerebellar Degeneration 32 0.041
799
RBS003 Rabson-Mendenhall Syndrome 55 0.041
800
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.041
801
GGN002 Gigantism 27 0.041
802
c INF067 Inflammatory Bowel Disease 10 51 0.041
803
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 54 0.041
804
P MRN003 Marinesco-Sjogren Syndrome 35 0.041
805
P PSR002 Psoriasis 63 0.041
806
P PRK057 Parkinson Disease, Late-Onset 72 0.040
807
P AGN002 Agnosia 56 0.040
808
P MTC004 Mitochondrial Encephalomyopathy 40 0.040
809
P ART023 Arthropathy 63 0.040
810
GLC006 Galactosemia 67 0.040
811
OLG003 Oligohydramnios 52 0.040
812
3MS007 3-M Syndrome 1 42 0.040
813
END030 End Stage Renal Failure 52 0.040
814
MYL004 Myelodysplastic Myeloproliferative Cancer 47 0.040
815
CRS005 Crest Syndrome 47 0.040
816
P MSC003 Muscular Atrophy 51 0.040
817
CYS001 Cystic Fibrosis 86 0.040
818
P OST005 Osteogenesis Imperfecta 67 0.040
819
DNG001 Dengue Shock Syndrome 43 0.040
820
P XLN007 X-Linked Disease 34 0.039
821
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 0.039
822
P APL001 Aplastic Anemia 73 0.039
823
MCR098 Microcephaly, Cortical Malformations, and Mental Retardation 14 0.039
824
P ANR007 Anorexia Nervosa 63 0.039
825
ARS001 Aarskog-Scott Syndrome 52 0.039
826
c TRC078 Trichohepatoenteric Syndrome 2 31 0.039
827
MYT011 Myotonia 40 0.039
828
MTB004 Metabolic Acidosis 48 0.039
829
KHL003 Kohlschutter-Tonz Syndrome 37 0.039
830
P BLD051 Blood Coagulation Disease 45 0.039
831
HDN002 Head Injury 45 0.039
832
PRN009 Paranoid Schizophrenia 47 0.039
833
OBS003 Obsessive-Compulsive Personality Disorder 37 0.039
834
P ENC011 Encephalomyopathy 34 0.039
835
GLB001 Gilbert Syndrome 61 0.039
836
P ADM011 Adams-Oliver Syndrome 48 0.039
837
P THR015 Thrombophilia 59 0.039
838
P TRC091 Trichorhinophalangeal Syndrome, Type Ii 47 0.039
839
TTR001 Tetralogy of Fallot 71 0.039
840
c CRN173 Coronary Heart Disease 8 20 0.039
841
SHP002 Shprintzen-Goldberg Syndrome 54 0.039
842
LWS003 Lowe Syndrome 61 0.039
843
EPD016 Epidermolysis Bullosa 57 0.039
844
c MNT242 Mental Retardation, Autosomal Dominant 40 20 0.039
845
c MNT243 Mental Retardation, Autosomal Recessive 50 15 0.039
846
CTY001 Cat Eye Syndrome 42 0.039
847
APR001 Apraxia 48 0.039
848
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.039
849
EMN001 Emanuel Syndrome 33 0.038
850
NPH003 Nephrocalcinosis 46 0.038
851
c DLT002 Dilated Cardiomyopathy 75 0.038
852
c TYR013 Tyrosinemia, Type Ii 44 0.038
853
INT075 Intracranial Hypertension 53 0.038
854
CRT012 Cortical Blindness 36 0.038
855
ATS010 Autosomal Recessive Disease 41 0.038
856
P MYL005 Myelofibrosis 67 0.038
857
BLS001 Blau Syndrome 56 0.038
858
SCT005 Scott Syndrome 50 0.038
859
c THR092 Thrombophilia Due to Thrombin Defect 56 0.038
860
BRN045 Brunner Syndrome 42 0.038
861
LBN003 Lubinsky Syndrome 14 0.038
862
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.038
863
SPL040 Split Hand 37 0.038
864
MLT021 Multiple System Atrophy 71 0.038
865
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.038
866
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27 0.038
867
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.038
868
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25 0.038
869
c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 24 0.038
870
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.038
871
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 23 0.038
872
DYS073 Dysphagia 49 0.038
873
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 55 0.037
874
MLR004 Malaria 79 0.037
875
P HMR003 Hemorrhagic Disease 57 0.037
876
RVL002 Ruvalcaba Syndrome 31 0.037
877
c HPT003 Hepatitis a 59 0.037
878
P ORT004 Orthostatic Intolerance 65 0.037
879
P GLM045 Glioma 58 0.037
880
P VNT002 Ventricular Septal Defect 59 0.037
881
P GST044 Gastritis 58 0.037
882
P ZMM001 Zimmermann-Laband Syndrome 29 0.037
883
PLY012 Polyhydramnios 47 0.037
884
PST095 Post-Thrombotic Syndrome 50 0.037
885
SCH016 Schimke Immunoosseous Dysplasia 49 0.037
886
P HYP014 Hyperuricemia 50 0.037
887
CNG065 Congenital Contractures 29 0.037
888
P AND016 Andersen Syndrome 58 0.037
889
HYP141 Hyperphenylalaninemia 48 0.037
890
P ALP009 Alopecia Areata 61 0.037
891
P END033 Endocarditis 52 0.037
892
MYC026 Myoclonus Epilepsy 33 0.037
893
P STS008 Sotos Syndrome 1 47 0.037
894
P CLC005 Celiac Disease 67 0.037
895
P CHR071 Charcot-Marie-Tooth Disease 66 0.037
896
RTN017 Retinal Detachment 57 0.037
897
FNC002 Functional Diarrhea 38 0.037
898
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 39 0.037
899
ACR007 Acromegaly 65 0.037
900
MGL016 Megaloblastic Anemia-1, Finnish Type 46 0.037
901
BRK001 Brooke-Spiegler Syndrome 49 0.036
902
c MNT164 Mental Retardation, Autosomal Dominant 12 19 0.036
903
HRT030 Hartsfield Syndrome 30 0.036
904
OPS006 Opsoclonus-Myoclonus Syndrome 46 0.036
905
PTC001 Potocki-Shaffer Syndrome 36 0.036
906
P ATP001 Atopic Dermatitis 62 0.036
907
P LSS027 Lissencephaly, X-Linked 42 0.036
908
BRW001 Brown-Vialetto-Van Laere Syndrome 29 0.036
909
THR004 Thrombocytosis 55 0.036
910
NRL016 Neural Tube Defects 76 0.036
911
SPS019 Spastic Paraparesis 34 0.036
912
TTH006 Tooth Disease 52 0.036
913
LPM005 Lipomatosis 47 0.036
914
VTM002 Vitamin B12 Deficiency 44 0.036
915
VSC008 Vascular Hemostatic Disease 33 0.036
916
SPL039 Split Foot 33 0.036
917
PLM070 Pulmonic Stenosis 59 0.036
918
PBL001 Piebaldism 57 0.036
919
RNL070 Renal Tubular Acidosis, Proximal, with Ocular Abnormalities 22 0.036
920
MNT069 Mental Retardation with Language Impairment and Autistic Features 5 0.036
921
MRC001 Marchiafava Bignami Disease 50 0.036
922
c ATM010 Autoimmune Hemolytic Anemia 60 0.036
923
ECT005 Ectropion 40 0.035
924
P FML035 Familial Hyperlipidemia 50 0.035
925
CRY010 Cryptophthalmos 24 0.035
926
c CCK005 Cockayne Syndrome, Type a 39 0.035
927
P HLP001 Holoprosencephaly 62 0.035
928
NNN026 Noonan Syndrome with Multiple Lentigines 47 0.035
929
OPP004 Oppositional Defiant Disorder 43 0.035
930
LPM004 Lipoma 58 0.035
931
SCH002 Schnitzler Syndrome 49 0.035
932
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 34 0.035
933
c MCP009 Mucopolysaccharidosis Ii 62 0.035
934
PRT018 Portal Vein Thrombosis 49 0.035
935
UND005 Undifferentiated Pleomorphic Sarcoma 43 0.035
936
ANV001 Anovulation 45 0.035
937
c RNG013 Ring Chromosome 18 20 0.035
938
CLC006 Calcinosis 49 0.035
939
P ADD001 Addison's Disease 62 0.035
940
MTC056 Mitochondrial Dna Depletion Syndrome 4a 43 0.035
941
c HRD169 Hereditary Colorectal Cancer 43 0.035
942
P CWD006 Cowden Syndrome 1 68 0.035
943
MTR007 Motor Peripheral Neuropathy 43 0.035
944
P OPT050 Opitz Gbbb Syndrome, Type Ii 42 0.035
945
P MYT002 Myotonic Dystrophy 47 0.035
946
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 30 0.035
947
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.035
948
ARG002 Argininosuccinic Aciduria 57 0.035
949
VLV042 Vulvar Vestibulitis Syndrome 43 0.035
950
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 40 0.035
951
P EPS003 Episodic Ataxia 56 0.035
952
ACT087 Acth Deficiency 43 0.035
953
c MNT194 Mental Retardation, X-Linked 50 19 0.035
954
DSS009 Disseminated Intravascular Coagulation 51 0.035
955
P OCL002 Oculocutaneous Albinism 51 0.035
956
P AST007 Astrocytoma 65 0.035
957
P MSC002 Muscular Dystrophy-Dystroglycanopathy 23 0.035
958
c CHR089 Chronic Kidney Failure 66 0.035
959
PLM033 Pulmonary Embolism 59 0.035
960
EXT022 Exotropia 39 0.034
961
LYS002 Lysosomal Storage Disease 52 0.034
962
PRP090 Peripheral Dysostosis 24 0.034
963
EYC003 Eye Accommodation Disease 26 0.034
964
MLL018 Miller-Dieker Lissencephaly Syndrome 45 0.034
965
EST005 Esotropia 41 0.034
966
GLT018 Glut1 Deficiency Syndrome 1 34 0.034
967
VTM003 Vitamin Metabolic Disorder 33 0.034
968
CLB026 Colobomatous Microphthalmia 28 0.034
969
MNT037 Mental Retardation X-Linked, South African Type 3 0.034
970
ART001 Arterial Tortuosity Syndrome 52 0.034
971
ATH004 Athetosis 25 0.034
972
IRN001 Iron Deficiency Anemia 51 0.034
973
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 26 0.034
974
P MCR258 Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii 34 0.034
975
TXC002 Toxic Encephalopathy 51 0.034
976
ADL030 Adult-Onset Still's Disease 57 0.034
977
c MNT204 Mental Retardation, X-Linked 23 17 0.034
978
ACR013 Acrodysostosis 49 0.034
979
c HMG001 Hemoglobin C Disease 47 0.034
980
c MCR240 Microcephalic Osteodysplastic Primordial Dwarfism, Type I 33 0.034
981
c SCK010 Seckel Syndrome 4 27 0.034
982
P LKD001 Leukodystrophy 58 0.034
983
THY028 Thyroid Cancer 68 0.034
984
P IDP010 Idiopathic Generalized Epilepsy 61 0.034
985
PTT046 Pituitary Hormone Deficiency, Combined, 2 53 0.034
986
OPT054 Opitz-Kaveggia Syndrome 32 0.034
987
P GLY013 Glycogen Storage Disease 59 0.034
988
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 25 0.034
989
CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 43 0.033
990
c ERL020 Early-Onset Schizophrenia 46 0.033
991
CNV002 Conversion Disorder 42 0.033
992
ART017 Aortic Disease 58 0.033
993
NRN004 Neuroendocrine Tumor 54 0.033
994
ATM012 Autoimmune Disease of Blood 37 0.033
995
P SLL003 Salla Disease 43 0.033
996
NNS031 Non-Syndromic Intellectual Disability 21 0.033
997
HPT020 Hepatic Vascular Disease 44 0.033
998
P PRT013 Portal Hypertension 59 0.033
999
NRN016 Neuronal Migration Disorders 42 0.033
1000
SCH003 Schizophreniform Disorder 41 0.033
1001
3MC002 3mc Syndrome 1 40 0.033
1002
FRS002 Frasier Syndrome 42 0.033
1003
PPL022 Papilloma 55 0.033
1004
WDS002 Woods Syndrome 30 0.033
1005
c FTL006 Fetal Alcohol Spectrum Disorder 43 0.033
1006
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 24 0.033
1007
P MYS005 Myositis 56 0.033
1008
P TYS001 Tay-Sachs Disease 71 0.033
1009
ADR007 Adrenoleukodystrophy 71 0.033
1010
PTN001 Patent Foramen Ovale 54 0.033
1011
P RCK004 Rickets 59 0.033
1012
P ENC008 Encephalocele 47 0.033
1013
P PRC031 Preeclampsia/eclampsia 1 57 0.033
1014
HMC014 Homocysteinemia 34 0.033
1015
OST017 Osteomyelitis 59 0.033
1016
PRX075 Proximal Myopathy and Ophthalmoplegia 43 0.033
1017
EPL167 Epilepsy-Aphasia Spectrum