Search results for "mental retardation syndrome"

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

2032 hits were found for 'mental retardation syndrome'

# Family MCID Name MIFTS Score
1
RNP001 Renpenning Syndrome 48 3.939
2
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 56 3.689
3
P FRG001 Fragile X Syndrome 68 3.637
4
c MNT109 Mental Retardation, X-Linked, Syndromic 15 30 3.217
5
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 29 3.087
6
WLS004 Wilson-Turner Syndrome 31 3.079
7
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 2.977
8
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 54 2.916
9
ALP016 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 16 2.885
10
P MNT135 Mental Retardation, X-Linked, Syndromic 13 30 2.871
11
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 31 2.847
12
P MWT001 Mowat-Wilson Syndrome 50 2.814
13
BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 29 2.812
14
PRT003 Partington Syndrome 44 2.712
15
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 27 2.645
16
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 2.638
17
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 22 2.621
18
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 27 2.543
19
WGR001 Wagr Syndrome 53 2.543
20
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 31 2.503
21
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 26 2.474
22
WDH003 Woodhouse-Sakati Syndrome 32 2.453
23
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 2.449
24
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 32 2.444
25
c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 26 2.412
26
MSS001 Masa Syndrome 49 2.398
27
WSM002 Waisman Syndrome 33 2.394
28
c MNT230 Mental Retardation, X-Linked Syndromic 5 29 2.385
29
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 35 2.342
30
c XLN042 X-Linked Mental Retardation 21 21 2.332
31
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 42 2.296
32
c MNT155 Mental Retardation, Autosomal Recessive 2 20 2.286
33
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 2.227
34
PRT055 Prieto X-Linked Mental Retardation Syndrome 24 2.212
35
P BRT040 Baraitser-Winter Syndrome 33 2.212
36
SSM001 Sesame Syndrome 53 2.177
37
MNT112 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 26 2.172
38
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 19 2.161
39
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 17 2.154
40
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 27 2.146
41
MNT232 Mental Retardation, X-Linked Syndromic, Raymond Type 19 2.142
42
GLL028 Gillespie Syndrome 39 2.135
43
KBG001 Kbg Syndrome 50 2.119
44
c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 19 2.118
45
MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 20 2.103
46
SCH022 Schimke X-Linked Mental Retardation Syndrome 13 2.084
47
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 23 2.061
48
CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 19 2.057
49
WLF002 Wolf-Hirschhorn Syndrome 50 2.044
50
c MNT149 Mental Retardation, X-Linked 3 29 2.028
51
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 34 2.020
52
c BRT038 Baraitser-Winter Syndrome 1 30 2.017
53
MNT068 Mental Retardation, X-Linked, Fraxe Type 22 2.014
54
MDN005 Mednik Syndrome 38 2.007
55
c MNT196 Mental Retardation, X-Linked 92 19 2.000
56
P MNT203 Mental Retardation, X-Linked 30/47 17 2.000
57
c MNT207 Mental Retardation, X-Linked, Syndromic 32 23 1.993
58
c MNT150 Mental Retardation, Autosomal Recessive 15 20 1.989
59
c MNT151 Mental Retardation, Autosomal Recessive 18 20 1.989
60
PPM001 Ppm-X Syndrome 14 1.987
61
XLN134 X-Linked Intellectual Disability, Siderius Type 17 1.976
62
MLS002 Miles-Carpenter X-Linked Mental Retardation Syndrome 22 1.958
63
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 1.949
64
WLF012 Wolff Mental Retardation Syndrome 20 1.940
65
FLP001 Filippi Syndrome 27 1.847
66
c MNT249 Mental Retardation, X-Linked 12/35 19 1.845
67
CFF002 Coffin-Lowry Syndrome 56 1.844
68
ART103 Arthrogryposis, Mental Retardation, and Seizures 22 1.839
69
c MNT171 Mental Retardation, Autosomal Dominant 17 18 1.835
70
TMP011 Temple-Baraitser Syndrome 34 1.832
71
c MNT154 Mental Retardation, Autosomal Recessive 14 22 1.829
72
SNY001 Snyder-Robinson Syndrome 23 1.827
73
CRB151 Cerebral Creatine Deficiency Syndrome 1 36 1.801
74
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 18 1.788
75
MNT030 Mental Retardation Syndrome, Belgian Type 15 1.783
76
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 18 1.783
77
CHM006 Chime Syndrome 32 1.777
78
ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 18 1.774
79
P RBN001 Rubinstein-Taybi Syndrome 65 1.767
80
MNT260 Mental Retardation, X-Linked, Syndromic, Wilson-Turner Type 9 1.754
81
c SPS020 Spastic Paraplegia 1 21 1.739
82
HRD035 Hair Defect with Photosensitivity and Mental Retardation 15 1.736
83
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 22 1.724
84
GNT031 Genitopatellar Syndrome 41 1.717
85
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 23 1.707
86
CHR543 Chromosome 2q37 Deletion Syndrome 30 1.680
87
XLN025 X-Linked Mental Retardation Gustavson Type 7 1.669
88
MNT029 Mental Retardation Spasticity Ectrodactyly 6 1.664
89
c MNT157 Mental Retardation, Autosomal Dominant 18 21 1.662
90
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 17 1.657
91
P CFF001 Coffin-Siris Syndrome 55 1.654
92
c MNT159 Mental Retardation, Autosomal Dominant 19 19 1.652
93
c MNT166 Mental Retardation, Autosomal Recessive 39 19 1.652
94
c MNT169 Mental Retardation, Autosomal Recessive, 37 21 1.649
95
c MNT216 Mental Retardation, Autosomal Recessive 41 20 1.649
96
c MNT153 Mental Retardation, Autosomal Dominant 15 21 1.648
97
c MNT156 Mental Retardation, Autosomal Dominant 14 21 1.648
98
c MNT152 Mental Retardation, Autosomal Dominant 16 21 1.648
99
DRS004 Door Syndrome 41 1.632
100
PCD002 Pcdh19-Related Female-Limited Epilepsy 14 1.631
101
2Q3002 2q37 Microdeletion Syndrome 9 1.621
102
ALP035 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 23 1.618
103
JWD001 Jawad Syndrome 31 1.613
104
HMM004 Hamamy Syndrome 23 1.602
105
CLB014 Coloboma, Cleft Lip/palate and Mental Retardation Syndrome 7 1.596
106
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 20 1.585
107
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 31 1.582
108
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 15 1.577
109
P FNG005 Feingold Syndrome 43 1.567
110
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 17 1.564
111
BLB005 Beaulieu-Boycott-Innes Syndrome 23 1.562
112
SCT004 Scott Bryant Graham Syndrome 11 1.562
113
SLC019 Slc9a6-Related Syndromic Mental Retardation 12 1.562
114
AYM001 Ayme-Gripp Syndrome 40 1.561
115
HLL013 Hall-Riggs Mental Retardation Syndrome 16 1.560
116
MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 20 1.556
117
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 16 1.552
118
c MNT246 Mental Retardation, Autosomal Dominant 38 19 1.552
119
ARM006 Armfield X-Linked Mental Retardation Syndrome 17 1.550
120
HYP229 Hypospadias Mental Retardation Goldblatt Type 6 1.550
121
P ALP076 Alopecia-Mental Retardation Syndrome 1 10 1.549
122
c MNT191 Mental Retardation, X-Linked, Syndromic 17 15 1.547
123
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 17 1.538
124
FLL034 Fallot Complex with Severe Mental and Growth Retardation 13 1.531
125
P FCL005 Focal Segmental Glomerulosclerosis 59 1.530
126
ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 6 1.523
127
ABD008 Abidi X-Linked Mental Retardation Syndrome 14 1.521
128
c ALP075 Alopecia-Mental Retardation Syndrome 2 9 1.521
129
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 21 1.521
130
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 13 1.521
131
c ALP063 Alopecia-Mental Retardation Syndrome 3 8 1.520
132
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 38 1.515
133
HYD014 Hyde Forster Mccarthy Berry Syndrome 11 1.501
134
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 19 1.498
135
MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10 1.498
136
SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 13 1.496
137
c MNT226 Mental Retardation, Autosomal Dominant 31 22 1.495
138
HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 15 1.490
139
NCL006 Nicolaides-Baraitser Syndrome 39 1.484
140
c TRC102 Trichothiodystrophy 1, Photosensitive 47 1.478
141
ART002 Arts Syndrome 53 1.476
142
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 22 1.473
143
c MNT248 Mental Retardation, X-Linked 102 22 1.466
144
KFM001 Kaufman Oculocerebrofacial Syndrome 32 1.464
145
XLN029 X-Linked Mental Retardation Type Wittwer 5 1.461
146
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 16 1.458
147
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 40 1.456
148
c MNT234 Mental Retardation, Autosomal Recessive 48 17 1.453
149
c MNT241 Mental Retardation, Autosomal Dominant 32 19 1.453
150
SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 12 1.453
151
c MNT213 Mental Retardation, Autosomal Recessive 40 20 1.450
152
c MNT179 Mental Retardation, Autosomal Dominant 21 18 1.450
153
c MNT211 Mental Retardation, Autosomal Dominant 23 19 1.450
154
c MNT212 Mental Retardation, Autosomal Dominant 26 19 1.450
155
c MNT183 Mental Retardation, Autosomal Recessive 36 19 1.447
156
SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 13 1.447
157
CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 26 1.432
158
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 39 1.400
159
NNS032 Non-Syndromic X-Linked Intellectual Disability 30 1.390
160
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 34 1.385
161
CHR580 Choroid Plexus Calcification and Mental Retardation 13 1.375
162
OLV004 Oliver-Mcfarlane Syndrome 29 1.370
163
LJN002 Lujan Syndrome 21 1.349
164
GMS002 Gms Syndrome 21 1.337
165
GLL032 Galloway-Mowat Syndrome 52 1.337
166
LSC001 Lesch-Nyhan Syndrome 60 1.334
167
HYP688 Hypospadias-Mental Retardation Syndrome 16 1.334
168
P HYP440 Hyperphosphatasia with Mental Retardation Syndrome 20 1.333
169
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 22 1.330
170
ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 24 1.323
171
CWC001 Cowchock Syndrome 27 1.319
172
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14 1.319
173
ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 19 1.315
174
TRN026 Tranebjaerg Svejgaard Syndrome 9 1.313
175
STC008 Stocco Dos Santos Syndrome 10 1.311
176
DBW001 Dubowitz Syndrome 48 1.311
177
LJN003 Lujan-Fryns Syndrome 28 1.306
178
P WVR001 Weaver Syndrome 54 1.304
179
MVD001 Moved to 60 1.299
180
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18 1.297
181
P SJG002 Sjogren-Larsson Syndrome 51 1.290
182
HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 17 1.288
183
HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 17 1.288
184
CHR506 Choroideremia, Deafness, and Mental Retardation 18 1.288
185
GRH004 Graham-Cox Syndrome 6 1.283
186
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 20 1.282
187
CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 20 1.282
188
CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 12 1.282
189
ARM005 Armfield Syndrome 6 1.282
190
MNT255 Mental Retardation and Psoriasis 18 1.280
191
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 35 1.277
192
P SMP003 Simpson-Golabi-Behmel Syndrome 46 1.276
193
RTN075 Retinopathy Pigmentary Mental Retardation 7 1.275
194
c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 14 1.273
195
MNT028 Mental Retardation Smith Fineman Myers Type 9 1.270
196
P PTT014 Pitt-Hopkins Syndrome 51 1.268
197
c MNT265 Mental Retardation, X-Linked, Syndromic, 33 11 1.267
198
HNN001 Hennekam Syndrome 48 1.266
199
ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 14 1.258
200
LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 14 1.258
201
c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 10 1.255
202
CRN099 Craniosynostosis Mental Retardation Clefting Syndrome 7 1.255
203
MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 19 1.254
204
c MNT235 Mental Retardation, Autosomal Dominant 37 18 1.254
205
c MNT197 Mental Retardation, X-Linked, Syndromic 9 15 1.249
206
PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 13 1.247
207
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 10 1.247
208
XLN162 X-Linked Intellectual Disability, Najm Type 10 1.245
209
RZC001 Ruzicka Goerz Anton Syndrome 5 1.239
210
c XLN103 X-Linked Charcot-Marie-Tooth Disease Type 4 10 1.232
211
5Q2001 5q22 Deletion Syndrome 6 1.232
212
c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 10 1.232
213
GST054 Gustavson Syndrome 15 1.223
214
CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 10 1.220
215
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 1.217
216
EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15 1.214
217
c MNT239 Mental Retardation, Autosomal Dominant 35 17 1.214
218
c MNT245 Mental Retardation, Autosomal Dominant 36 17 1.214
219
MCR038 Macrogyria, Pseudobulbar Palsy and Mental Retardation 4 1.214
220
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 1.209
221
CRY028 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 15 1.208
222
MNT256 Mental Retardation, Buenos Aires Type 15 1.206
223
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 15 1.205
224
c MNT181 Mental Retardation, Autosomal Recessive 35 15 1.205
225
INT090 Intellectual Deficit Buenos-Aires Type 7 1.202
226
AMS002 Amish Infantile Epilepsy Syndrome 34 1.202
227
ALL001 Allan-Herndon-Dudley Syndrome 46 1.192
228
TMT002 Temtamy Preaxial Brachydactyly Syndrome 29 1.172
229
TMT003 Temtamy Syndrome 27 1.169
230
MCR077 Microphthalmia Mental Deficiency 5 1.166
231
BLP010 Blepharophimosis Intellectual Disability Syndromes 19 1.160
232
SYB002 Say-Barber-Biesecker Variant of Ohdo Syndrome 12 1.153
233
RRD001 Reardon Wilson Cavanagh Syndrome 8 1.147
234
CHR174 Christianson Syndrome 26 1.145
235
NSY001 N Syndrome 42 1.144
236
AKS001 Akesson Syndrome 7 1.139
237
LBN005 Lubani-Al Saleh-Teebi Syndrome 6 1.129
238
OHD003 Ohdo Syndrome, X-Linked 23 1.128
239
WDM004 Wiedemann-Steiner Syndrome 40 1.126
240
P WRB001 Warburg Micro Syndrome 33 1.113
241
ALD006 Aldred Syndrome 5 1.112
242
RCH002 Richards-Rundle Syndrome 24 1.112
243
KND003 Kondoh Syndrome 10 1.078
244
FTZ005 Fitzsimmons-Guilbert Syndrome 20 1.077
245
DBR002 De Barsy Syndrome 26 1.076
246
OLV002 Oliver Syndrome 44 1.076
247
MRL004 Morillo-Cucci-Passarge Syndrome 6 1.076
248
CRT027 Cartwright Nelson Fryns Syndrome 4 1.075
249
KHR001 Kahrizi Syndrome 21 1.074
250
2Q3001 2q37 Deletion Syndrome 12 1.072
251
GRR002 Gurrieri Syndrome 21 1.071
252
P ALP068 Alopecia-Intellectual Disability Syndrome 17 1.071
253
c MCR262 Microphthalmia, Syndromic 4 21 1.065
254
MGL033 Megalocornea-Mental Retardation Syndrome 22 1.058
255
CKS001 Ck Syndrome 30 1.055
256
MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 8 1.051
257
MCR052 Microcephaly Microcornea Syndrome Seemanova Type 17 1.048
258
FGS004 Fg Syndrome 4 26 1.048
259
MCR306 Microcephaly-Deafness Syndrome 15 1.048
260
BHR001 Behr Syndrome 43 1.042
261
XGB001 Xia-Gibbs Syndrome 17 1.037
262
ZLT002 Zlotogora Syndrome 10 1.031
263
PLL004 Pallister W Syndrome 17 1.028
264
MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 17 1.027
265
c BMN004 Biemond Syndrome Ii 15 1.027
266
OCL043 Oculorenocerebellar Syndrome 16 1.026
267
MGL027 Megalocornea-Intellectual Disability Syndrome 11 1.026
268
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 23 1.021
269
c DFN036 Deafness, X-Linked 2 32 1.013
270
MCR066 Microcephaly-Cardiomyopathy 20 1.011
271
OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 6 1.007
272
MCD002 Mcdonough Syndrome 25 1.007
273
OST149 Osteolysis Syndrome, Recessive 16 1.005
274
MTP004 Metaphyseal Acroscyphodysplasia 19 1.002
275
5Q1001 5q14.3 Microdeletion Syndrome 9 1.002
276
LWR016 Lowry-Maclean Syndrome 18 0.993
277
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 7 0.993
278
DWR012 Dwarfism, Mental Retardation and Eye Abnormality 6 0.987
279
CHD003 Chudley Rozdilsky Syndrome 7 0.987
280
c ALP081 Alopecia Intellectual Disability Syndrome 2 8 0.986
281
BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 14 0.982
282
ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 14 0.981
283
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 30 0.979
284
HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 18 0.977
285
OST047 Osteopenia and Sparse Hair 15 0.976
286
CDL001 Caudal Appendage Deafness 12 0.976
287
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 30 0.973
288
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 14 0.972
289
MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 16 0.971
290
MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 14 0.971
291
WDM002 Wiedemann Oldigs Oppermann Syndrome 4 0.971
292
BRK011 Brooks-Wisniewski-Brown Syndrome 18 0.971
293
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 16 0.969
294
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 14 0.969
295
CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 14 0.969
296
ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 12 0.969
297
SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 13 0.966
298
PLT011 Pilotto Syndrome 16 0.965
299
TKN001 Takenouchi-Kosaki Syndrome 15 0.962
300
XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 7 0.962
301
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 45 0.960
302
ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 4 0.959
303
KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4 0.954
304
c SYN019 Syndactyly Type 1 with Cataracts and Mental Retardation 6 0.954
305
HLS003 Helsmoortel-Van Der Aa Syndrome 21 0.954
306
GRX001 Grix Blankenship Peterson Syndrome 14 0.953
307
WGR002 Wagro Syndrome 10 0.953
308
DVS001 Davis Lafer Syndrome 4 0.953
309
SMT020 Smith-Kingsmore Syndrome 18 0.952
310
SNG001 Singh Chhaparwal Dhanda Syndrome 3 0.952
311
c ALD008 Aldh18a1-Related Cutis Laxa 16 0.951
312
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 0.950
313
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 15 0.942
314
BTT012 Battaglia-Neri Syndrome 6 0.939
315
RMS002 Ramos Arroyo Clark Syndrome 4 0.938
316
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 15 0.937
317
ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 14 0.937
318
INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 8 0.934
319
BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 14 0.934
320
TNK001 Tonoki Syndrome 5 0.931
321
CMR003 Camera Marugo Cohen Syndrome 7 0.923
322
DVR003 Devriendt Syndrome 8 0.923
323
SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 8 0.922
324
KRN006 Karandikar Maria Kamble Syndrome 5 0.921
325
PFF002 Pfeiffer Kapferer Syndrome 5 0.921
326
CLR029 Clark-Baraitser Syndrome 11 0.921
327
MNT250 Mental Retardation with Spastic Paraplegia 10 0.921
328
KSZ002 Kosztolanyi Syndrome 4 0.921
329
KZL006 Kozlowski-Krajewska Syndrome 5 0.921
330
PFF003 Pfeiffer Mayer Syndrome 4 0.921
331
WLK002 Walker Dyson Syndrome 6 0.921
332
CNT052 Cantalamessa Baldini Ambrosi Syndrome 4 0.921
333
PSS001 Passos-Bueno Syndrome 6 0.919
334
KNR001 Koone Rizzo Elias Syndrome 4 0.919
335
HRD065 Hordnes Engebretsen Knudtson Syndrome 3 0.919
336
KZL003 Kozlowski Ouvrier Syndrome 3 0.919
337
PLN009 Palant Cleft Palate Syndrome 3 0.919
338
PSS002 Piussan Lenaerts Mathieu Syndrome 4 0.919
339
ZRR001 Zerres Rietschel Majewski Syndrome 5 0.919
340
ZZM001 Zazam Sheriff Phillips Syndrome 4 0.919
341
DKR001 Duker Weiss Siber Syndrome 3 0.919
342
FNG007 Feingold Trainer Syndrome 3 0.919
343
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 17 0.917
344
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 7 0.917
345
DXT003 Dextrocardia with Unusual Facies and Microphthalmia 10 0.915
346
PLY042 Polyneuropathy Mental Retardation Acromicria Premature Menopause 5 0.914
347
BRT020 Baraitser Rodeck Garner Syndrome 4 0.913
348
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 21 0.908
349
CRN079 Craniodigital Syndrome Mental Retardation 3 0.904
350
CRN103 Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 2 0.902
351
PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3 0.902
352
ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 5 0.902
353
ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 14 0.902
354
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 29 0.900
355
MNT025 Mental Retardation Short Stature Deafness Genital 4 0.899
356
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 0.899
357
ULN022 Ulnar Hypoplasia with Mental Retardation 13 0.894
358
XLN128 X-Linked Intellectual Disability, Abidi Type 7 0.894
359
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 14 0.891
360
NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 11 0.891
361
SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 9 0.891
362
AMP011 Ampola Syndrome 4 0.877
363
c MRN006 Marinesco-Sjogren-Like Syndrome 4 0.877
364
c SPS018 Spastic Diplegia Infantile Type 19 0.875
365
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 0.875
366
SPS047 Spastic Paraplegia with Precocious Puberty 13 0.872
367
AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 7 0.872
368
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6 0.872
369
P INT063 Intellectual Disability 46 0.316
370
P MCR010 Microcephaly 60 0.254
371
P EPL164 Epilepsy 60 0.236
372
PSY004 Psychotic Disorder 62 0.223
373
P ATS049 Autism Susceptibility, X-Linked 2 34 0.188
374
P HYP265 Hypotonia 39 0.187
375
ALR002 Al-Raqad Syndrome 36 0.183
376
DSS008 Disease of Mental Health 48 0.180
377
P ATX004 Ataxia 53 0.177
378
P OBS005 Obesity 91 0.175
379
SPS057 Spasticity 41 0.168
380
CRB009 Cerebritis 36 0.164
381
RTN023 Retinitis 49 0.154
382
P SCH015 Schizophrenia 78 0.154
383
P CTR002 Cataract 57 0.148
384
NRN002 Neuronitis 40 0.141
385
DWN001 Down Syndrome 65 0.137
386
HYP080 Hypogonadism 54 0.135
387
MYL009 Myelodysplastic Syndrome 73 0.132
388
P PLY011 Polycystic Ovary Syndrome 64 0.131
389
c BRN108 Branchiootic Syndrome 1 36 0.130
390
P ENC018 Encephalopathy 59 0.126
391
P RTT002 Rett Syndrome 77 0.124
392
P SHR029 Short Syndrome 60 0.123
393
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.121
394
P HPT021 Hepatitis 74 0.120
395
LRN003 Learning Disability 49 0.119
396
P HRT032 Heart Disease 64 0.119
397
P THL005 Thalassemia 61 0.117
398
CLF001 Cleft Lip 48 0.116
399
P BRC006 Brachydactyly 53 0.115
400
P PTS002 Ptosis 56 0.113
401
P MYP004 Myopathy 67 0.112
402
CND002 Conduct Disorder 54 0.112
403
CHL071 Child Syndrome 58 0.112
404
P MSC005 Muscular Dystrophy 64 0.112
405
P PLY006 Polydactyly 56 0.110
406
c CNG401 Congenital Heart Disease 67 0.110
407
P PRD006 Prader-Willi Syndrome 64 0.110
408
P CRB042 Cerebellar Ataxia 64 0.109
409
KDS001 Kid Syndrome 53 0.107
410
P CRN037 Craniosynostosis 66 0.106
411
P AXN010 Axenfeld-Rieger Syndrome, Type 3 52 0.105
412
ANX002 Anxiety Disorder 67 0.104
413
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 28 0.104
414
P LKM002 Leukemia 70 0.102
415
ALP008 Alopecia 56 0.101
416
P ANG001 Angelman Syndrome 62 0.101
417
P SYN001 Syndactyly 49 0.101
418
PRP016 Paraplegia 49 0.101
419
CSY001 C Syndrome 49 0.100
420
P NRP001 Neuropathy 57 0.100
421
HYP077 Hypertrichosis 52 0.099
422
P CRD011 Cardiomyopathy 66 0.099
423
P ANT006 Antiphospholipid Syndrome 60 0.098
424
P THY032 Thyroiditis 57 0.097
425
DWR001 Dwarfism 42 0.097
426
P TRN020 Turner Syndrome 64 0.096
427
P BPL003 Bipolar Disorder 58 0.096
428
EXF001 Exfoliation Syndrome 56 0.096
429
SLP005 Sleep Disorder 52 0.095
430
DRG001 Drug Psychosis 39 0.094
431
BLP004 Blepharophimosis 38 0.094
432
MCR013 Microphthalmia 57 0.094
433
HPT074 Hepatic Adenoma, Somatic 35 0.093
434
ANR002 Aniridia 62 0.093
435
INS024 Insulin-Like Growth Factor I 75 0.092
436
GNG013 Gingivitis 61 0.092
437
PHY002 Physical Disorder 43 0.089
438
P ATS007 Autism Spectrum Disorder 64 0.089
439
P TRM003 Tremor 54 0.089
440
P HYP086 Hypothyroidism 63 0.089
441
P ALP004 Alport Syndrome 68 0.088
442
P EHL001 Ehlers-Danlos Syndrome 61 0.088
443
P PLN008 Peeling Skin Syndrome 45 0.088
444
P CSH001 Cushing's Syndrome 65 0.088
445
CRB045 Cerebellar Hypoplasia 47 0.088
446
SNS001 Sensorineural Hearing Loss 52 0.087
447
P HYD006 Hydrocephalus 68 0.087
448
P FTL001 Fetal Alcohol Syndrome 53 0.086
449
SMT004 Smith-Lemli-Opitz Syndrome 66 0.086
450
WLL001 Williams-Beuren Syndrome 61 0.086
451
DYS018 Dysostosis 43 0.086
452
ATS001 Autistic Disorder 60 0.086
453
OBS015 Obesity, Hyperphagia, and Developmental Delay 35 0.085
454
GRW007 Growth Hormone Deficiency 49 0.085
455
P CRV039 Cervicitis 45 0.084
456
PRV006 Pervasive Developmental Disorder 49 0.084
457
DMN002 Dementia 62 0.084
458
P SCL018 Scoliosis 56 0.084
459
P PRS038 Personality Disorder 60 0.084
460
END072 Endotheliitis 41 0.084
461
P LNG028 Long Qt Syndrome 67 0.084
462
WST001 West Syndrome 61 0.084
463
THR013 Thoracic Outlet Syndrome 48 0.084
464
WLL006 Wells Syndrome 57 0.083
465
MNT014 Mental Retardation Epilepsy 21 0.083
466
P ART022 Arthritis 73 0.083
467
P SZR006 Seizure Disorder 56 0.083
468
ECT006 Ectodermal Dysplasia 46 0.081
469
HLL004 Hellp Syndrome 48 0.081
470
SPN041 Spinal Cord Disease 50 0.081
471
GLC008 Glucose Metabolism Disease 44 0.081
472
P SLV001 Silver-Russell Syndrome 54 0.080
473
P LYM118 Lymphoma 68 0.080
474
MVM001 Movement Disease 45 0.080
475
P BRD002 Bardet-Biedl Syndrome 64 0.080
476
P HYP060 Hyperinsulinism 58 0.080
477
P HYP024 Hypoparathyroidism 52 0.079
478
ATT013 Attention Deficit-Hyperactivity Disorder 69 0.079
479
CRB037 Cerebral Palsy 54 0.079
480
P STR020 Strabismus 55 0.079
481
VSL002 Visual Epilepsy 30 0.079
482
P SLP006 Sleep Apnea 60 0.078
483
NRL004 Neuroleptic Malignant Syndrome 48 0.078
484
WBR001 Weber Syndrome 36 0.077
485
SMT008 Smith-Magenis Syndrome 49 0.077
486
P HYP055 Hypoplastic Left Heart Syndrome 60 0.077
487
PLY023 Polycystic Liver Disease 57 0.077
488
ANR040 Aneurysm 56 0.077
489
P RTN008 Retinitis Pigmentosa 78 0.076
490
SKL014 Skeletal Dysplasia 44 0.076
491
GDS001 Good Syndrome 46 0.076
492
SKL017 Skeletal Dysplasias 41 0.076
493
P SPS003 Spastic Diplegia 49 0.076
494
P THR014 Thrombocytopenia 63 0.075
495
TXC005 Toxic Shock Syndrome 61 0.075
496
NTR005 Nutritional Deficiency Disease 51 0.075
497
PRD011 Proud Syndrome 42 0.075
498
SYN005 Synostosis 44 0.075
499
P SYN064 Syndromic X-Linked Intellectual Disability 18 0.075
500
LCK001 Locked-in Syndrome 37 0.075
501
BNM001 Bone Marrow Cancer 56 0.075
502
OBS061 Obstructive Sleep Apnea 61 0.075
503
SYN057 Syndromic Intellectual Disability 23 0.075
504
P PLY019 Polyneuropathy 53 0.074
505
BRT030 Birth Defects 44 0.074
506
RST001 Restless Legs Syndrome 51 0.074
507
BDY001 Body Dysmorphic Disorder 41 0.074
508
CRY002 Cryptorchidism 61 0.074
509
P HYP040 Hypospadias 58 0.074
510
KLN001 Klinefelter's Syndrome 52 0.074
511
P PNM007 Pneumonia 67 0.074
512
P GND004 Gonadal Dysgenesis 51 0.073
513
CRB069 Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome 44 0.072
514
CHN016 Cohen Syndrome 55 0.072
515
P PNC044 Pancreatitis 62 0.072
516
PTZ001 Peutz-Jeghers Syndrome 71 0.072
517
WRN001 Werner Syndrome 69 0.072
518
SPC010 Speech and Communication Disorders 42 0.071
519
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 35 0.071
520
P CRN015 Cornelia De Lange Syndrome 65 0.070
521
BRN106 Burns 52 0.070
522
P CRN211 Coronary Artery Disease 74 0.070
523
MNT189 Mental Retardation, X-Linked 29 and Others 22 0.069
524
ACD009 Acid-Labile Subunit, Deficiency of 37 0.069
525
P OVR049 Ovarian Disease 54 0.069
526
c SYS001 Systemic Lupus Erythematosus 87 0.068
527
MLK003 Melkersson-Rosenthal Syndrome 52 0.068
528
AMN006 Aminoaciduria 39 0.068
529
SXL003 Sexual Disorder 45 0.068
530
c LNR013 Linear Skin Defects with Multiple Congenital Anomalies 1 41 0.068
531
P LGH007 Leigh Syndrome 70 0.068
532
ATH003 Atherosclerosis 63 0.068
533
c PND001 Pain Disorder 53 0.067
534
AND015 Androgen Insensitivity 64 0.067
535
P HYP083 Hypopituitarism 50 0.067
536
OST015 Osteochondrodysplasia 54 0.067
537
P KDN018 Kidney Disease 64 0.067
538
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 35 0.066
539
c PLN021 Peeling Skin Syndrome 3 30 0.066
540
c PLN018 Peeling Skin Syndrome 2 36 0.066
541
KRN002 Kearns-Sayre Syndrome 60 0.066
542
P ESP024 Esophagitis 62 0.066
543
FML039 Female Reproductive System Disease 49 0.066
544
CST001 Costello Syndrome 68 0.066
545
CHR008 Choroiditis 43 0.066
546
ART111 Artery Disease 56 0.065
547
PRN039 Paraneoplastic Syndromes 42 0.065
548
P CTS001 Cutis Laxa 57 0.065
549
P MYC007 Myocardial Infarction 80 0.065
550
URB001 Urbach-Wiethe Disease 48 0.064
551
GND003 Gonadal Disease 41 0.064
552
ADJ001 Adjustment Disorder 38 0.064
553
P INT068 Intestinal Disease 60 0.064
554
P CLR023 Colorectal Cancer 96 0.064
555
FRY002 Fryns Syndrome 37 0.064
556
P HMR012 Hemorrhagic Fever 55 0.064
557
P DBT005 Diabetes Insipidus 53 0.064
558
P CTS012 Cutis Verticis Gyrata 19 0.064
559
P DRR001 Diarrhea 60 0.064
560
P GLM007 Glomerulonephritis 56 0.064
561
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 60 0.063
562
CTS005 Catastrophic Antiphospholipid Syndrome 39 0.063
563
BLD053 Blood Platelet Disease 44 0.063
564
PRS047 Prostatitis 56 0.063
565
P DYS154 Dystonia 62 0.063
566
SPC003 Specific Developmental Disorder 39 0.063
567
OTP003 Oto-Palatal-Digital Syndrome 14 0.063
568
P RHM011 Rheumatoid Arthritis 87 0.063
569
P BRS047 Breast Cancer 100 0.063
570
PCH002 Pachygyria 39 0.063
571
P INF032 Infertility 61 0.063
572
CLN019 Colonic Disease 50 0.063
573
P MCP010 Mucopolysaccharidosis 58 0.063
574
OBS002 Obsessive-Compulsive Disorder 66 0.063
575
P OST002 Osteoporosis 63 0.063
576
LNN001 Lennox-Gastaut Syndrome 51 0.062
577
PRP027 Peripheral Vascular Disease 69 0.062
578
CHR103 Charge Syndrome 64 0.062
579
QDR001 Quadriplegia 51 0.062
580
P TRC086 Trichohepatoenteric Syndrome 1 46 0.062
581
P LCT001 Lactic Acidosis 52 0.062
582
P PRM019 Premature Ovarian Failure 65 0.062
583
c CNT035 Central Nervous System Disease 60 0.062
584
BSL008 Basal Ganglia Disease 40 0.062
585
PLY024 Polymicrogyria 34 0.062
586
c BSL007 Basal Cell Carcinoma 66 0.062
587
MYC033 Myoclonus 41 0.061
588
PCK002 Pick Disease 66 0.061
589
BRN071 Brain Injury 51 0.061
590
HMR004 Hemorrhagic Fever with Renal Syndrome 52 0.061
591
P LSS002 Lissencephaly 48 0.061
592
PHN003 Phenylketonuria 71 0.061
593
MGL003 Megalocornea 28 0.061
594
ACR041 Acromelic Frontonasal Dysostosis 45 0.061
595
NRM005 Neuromuscular Disease 56 0.061
596
P ALZ034 Alzheimer Disease 92 0.061
597
P LYM025 Lymphedema 60 0.061
598
ANG054 Angina Pectoris 48 0.061
599
DND001 Dandy-Walker Syndrome 42 0.061
600
CHD001 Chediak-Higashi Syndrome 66 0.060
601
P MNN013 Meningitis 66 0.060
602
c HRD026 Hereditary Ataxia 46 0.060
603
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 42 0.060
604
P ECL001 Eclampsia 55 0.060
605
BND014 Bone Development Disease 40 0.060
606
c PLN017 Peeling Skin Syndrome 1 32 0.060
607
SPR007 Superior Mesenteric Artery Syndrome 37 0.059
608
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 42 0.059
609
P OVR042 Ovarian Cancer 73 0.059
610
BLM001 Bloom Syndrome 63 0.059
611
c ACT075 Acute Myocardial Infarction 61 0.059
612
STR067 Stroke, Ischemic 74 0.059
613
SXD001 Sex Differentiation Disease 39 0.059
614
PRN038 Prune Belly Syndrome 46 0.059
615
P AST005 Asthma 80 0.059
616
P DST002 Distal Arthrogryposis 54 0.059
617
ACR008 Acrocallosal Syndrome 51 0.059
618
P MSC033 Muscle Disorders 52 0.058
619
SPS004 Spastic Quadriplegia 36 0.058
620
CNS004 Constipation 57 0.058
621
PLC008 Placenta Disease 33 0.058
622
FBR019 Fibromatosis 40 0.058
623
CRP010 Corpus Callosum Agenesis 38 0.058
624
APH002 Aphasia 52 0.058
625
P BDD001 Budd-Chiari Syndrome 52 0.058
626
P MYP006 Myopia 58 0.058
627
DFC004 Deficiency Anemia 64 0.058
628
P NJM001 Nijmegen Breakage Syndrome 68 0.058
629
P LPD010 Lipodystrophy 51 0.058
630
MSC004 Muscle Tissue Disease 35 0.058
631
P CRN178 Coronary Heart Disease 6 22 0.057
632
P LNG032 Lung Cancer 92 0.057
633
JHN001 Johanson-Blizzard Syndrome 47 0.057
634
INT007 Intermediate Coronary Syndrome 52 0.057
635
P DRV001 Dravet Syndrome 66 0.057
636
PRP030 Purpura 60 0.057
637
P ALC004 Alcohol Abuse 57 0.057
638
RPR002 Reproductive System Disease 45 0.057
639
P HML002 Hemolytic Anemia 60 0.056
640
ALN001 Aland Island Eye Disease 45 0.056
641
c CRN172 Coronary Heart Disease 3 19 0.056
642
P FRS003 Fraser Syndrome 58 0.056
643
CCN007 Cocoon Syndrome 32 0.056
644
c CNG031 Congenital Nervous System Abnormality 39 0.056
645
WLK001 Walker-Warburg Syndrome 55 0.056
646
ARC002 Arachnoiditis 38 0.056
647
P KLP003 Klippel-Feil Syndrome 47 0.056
648
GLC003 Glucose Intolerance 56 0.056
649
c CNG124 Congenital Rubella 40 0.056
650
ATN002 Autonomic Nervous System Disease 46 0.055
651
P KRT007 Keratoconus 48 0.055
652
STF001 Stiff-Person Syndrome 54 0.055
653
GST092 Gastroesophageal Reflux 62 0.055
654
HNT002 Hantavirus Pulmonary Syndrome 51 0.055
655
SPC005 Speech Disorder 41 0.055
656
ABL002 Ablepharon-Macrostomia Syndrome 51 0.055
657
ISL003 Isolated Growth Hormone Deficiency 39 0.055
658
P GNG025 Gingival Fibromatosis 49 0.055
659
AMN001 Amenorrhea 51 0.055
660
P ESC003 Escobar Syndrome 59 0.055
661
P PRC019 Precocious Puberty 53 0.054
662
DRM006 Dermatitis 58 0.054
663
BNS002 Bone Structure Disease 37 0.054
664
CLF027 Cleft Palate, Isolated 56 0.054
665
FRG008 Fragile X-Associated Tremor/ataxia Syndrome 33 0.054
666
HYP043 Hyperandrogenism 46 0.054
667
VND001 Vein Disease 51 0.053
668
P LVR013 Liver Disease 76 0.053
669
SMT006 Somatoform Disorder 52 0.053
670
P TBR001 Tuberous Sclerosis 68 0.053
671
PSD009 Pseudohermaphroditism 39 0.053
672
IMG001 Image Syndrome 54 0.053
673
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 52 0.053
674
P HLL001 Hallermann-Streiff Syndrome 53 0.053
675
PTT009 Pituitary Gland Disease 45 0.053
676
ART016 Aortic Aneurysm 67 0.052
677
SKN023 Skin Tag 48 0.052
678
P HRM001 Hermansky-Pudlak Syndrome 56 0.052
679
P INF038 Influenza 71 0.052
680
P CRB088 Cerebral Atrophy 40 0.052
681
P CHN005 Choanal Atresia 42 0.052
682
ARC007 Arachnoid Cysts 39 0.052
683
P ADN016 Adenocarcinoma 69 0.052
684
c JVN024 Juvenile Hereditary Hemochromatosis 30 0.052
685
CNG034 Congestive Heart Failure 72 0.052
686
P LPR002 Leopard Syndrome 53 0.052
687
c HRD010 Hereditary Spastic Paraplegia 66 0.052
688
EYD002 Eye Disease 62 0.052
689
MRS004 Marshall-Smith Syndrome 42 0.052
690
P MTC069 Mitochondrial Disorders 51 0.052
691
P RBL001 Rubella 54 0.052
692
P MTH007 Methemoglobinemia 44 0.052
693
ACN002 Acanthosis Nigricans 59 0.051
694
ART021 Arteriosclerosis 59 0.051
695
P LRY019 Laryngitis 55 0.051
696
P CRD013 Cardiofaciocutaneous Syndrome 65 0.051
697
MGL001 Megaloblastic Anemia 51 0.051
698
CRD002 Cri-Du-Chat Syndrome 48 0.051
699
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 45 0.051
700
P KLF001 Kleefstra Syndrome 41 0.051
701
P MSC003 Muscular Atrophy 51 0.051
702
P HYP087 Hypotrichosis 44 0.051
703
CHR081 Choroideremia 53 0.051
704
LMR001 Lemierre's Syndrome 43 0.051
705
APH001 Aphthous Stomatitis 62 0.051
706
WTH001 Withdrawal Disorder 36 0.051
707
ETH011 Ethylmalonic Encephalopathy 57 0.051
708
P ART023 Arthropathy 63 0.051
709
CRT012 Cortical Blindness 36 0.051
710
c CHR092 Chronic Myeloproliferative Disease 50 0.051
711
BRJ001 Borjeson-Forssman-Lehmann Syndrome 52 0.050
712
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 41 0.050
713
HYP066 Hyperglycemia 61 0.050
714
P NNN008 Noonan Syndrome 1 64 0.050
715
P MRD002 Marden-Walker Syndrome 39 0.050
716
ACH005 Achalasia 55 0.050
717
FNC005 Functional Colonic Disease 32 0.050
718
GYN001 Gynecomastia 49 0.050
719
P RTH001 Rothmund-Thomson Syndrome 56 0.050
720
URN009 Urinary System Disease 52 0.050
721
MTH009 Mouth Disease 63 0.050
722
MLN008 Melanoma 61 0.050
723
LVR012 Liver Cirrhosis 71 0.050
724
THR004 Thrombocytosis 55 0.050
725
P OST005 Osteogenesis Imperfecta 68 0.050
726
P AMY004 Amyloidosis 63 0.050
727
c THR092 Thrombophilia Due to Thrombin Defect 56 0.050
728
P THR015 Thrombophilia 59 0.050
729
CMP034 Complete Androgen Insensitivity Syndrome 42 0.050
730
ANV001 Anovulation 44 0.050
731
P KLL001 Kallmann Syndrome 61 0.050
732
c MNT218 Mental Retardation, X-Linked 99 18 0.050
733
PLG005 Plagiocephaly and X-Linked Mental Retardation 6 0.050
734
P WLF004 Wolfram Syndrome 62 0.050
735
MBS002 Moebius Syndrome 44 0.049
736
OPT006 Optic Nerve Disease 47 0.049
737
ACR012 Aicardi Syndrome 45 0.049
738
c CNG006 Congenital Hypothyroidism 59 0.049
739
ACN011 Acne 63 0.049
740
HMP005 Hemiplegia 52 0.049
741
P PNC001 Pancytopenia 53 0.049
742
MYH012 Myhre Syndrome 37 0.049
743
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.049
744
P PRS049 Persistent Mullerian Duct Syndrome 52 0.049
745
INT075 Intracranial Hypertension 52 0.049
746
P KBK002 Kabuki Syndrome 1 49 0.049
747
CRB025 Carbohydrate Metabolic Disorder 46 0.049
748
GST050 Gastrointestinal System Disease 58 0.049
749
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.049
750
LND001 Landau-Kleffner Syndrome 36 0.048
751
P NRF002 Neurofibromatosis 66 0.048
752
P MTC004 Mitochondrial Encephalomyopathy 39 0.048
753
HYP391 Hyperammonemia 38 0.048
754
P ENC004 Encephalitis 60 0.048
755
P MYL005 Myelofibrosis 67 0.048
756
LPR018 Leprechaunism 59 0.048
757
PTT046 Pituitary Hormone Deficiency, Combined, 2 54 0.048
758
P LYM026 Lymphoblastic Leukemia 60 0.048
759
THL016 Thalassemias, Alpha- 55 0.048
760
MTS001 Mutism 38 0.048
761
P RSP003 Respiratory Failure 68 0.048
762
GND001 Gonadoblastoma 44 0.048
763
DCH001 Duchenne Muscular Dystrophy 81 0.048
764
HYP064 Hypogonadotropism 38 0.048
765
P PSR002 Psoriasis 63 0.048
766
c MNT145 Mental Retardation, Autosomal Recessive 5 21 0.048
767
RBS003 Rabson-Mendenhall Syndrome 55 0.048
768
RNL007 Renal Tubular Acidosis 50 0.048
769
P APL001 Aplastic Anemia 74 0.048
770
ATR060 Atrial Standstill, Digenic 51 0.047
771
SKN016 Skin Disease 69 0.047
772
GGN002 Gigantism 29 0.047
773
HYP458 Hyper Ige Syndrome 43 0.047
774
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 22 0.047
775
TCD001 Tic Disorder 48 0.047
776
INC022 Inclusion-Cell Disease 46 0.047
777
P NTR004 Neutropenia 59 0.047
778
HND003 Hand-Foot-Uterus Syndrome 46 0.047
779
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 77 0.047
780
ACR007 Acromegaly 66 0.047
781
ATN005 Autonomic Dysfunction 44 0.047
782
P URF003 Urofacial Syndrome 1 51 0.047
783
EPD016 Epidermolysis Bullosa 59 0.047
784
EMN001 Emanuel Syndrome 38 0.047
785
CYS001 Cystic Fibrosis 87 0.046
786
P AST007 Astrocytoma 66 0.046
787
BNN001 Bannayan-Riley-Ruvalcaba Syndrome 56 0.046
788
RDS004 Rud Syndrome 12 0.046
789
c MNT223 Mental Retardation, X-Linked 100 21 0.046
790
P END033 Endocarditis 52 0.046
791
DNG001 Dengue Shock Syndrome 41 0.046
792
APR001 Apraxia 50 0.046
793
P PRK057 Parkinson Disease, Late-Onset 72 0.046
794
MYL004 Myelodysplastic Myeloproliferative Cancer 46 0.046
795
GTL001 Gitelman Syndrome 60 0.046
796
P HNT016 Huntington Disease 80 0.046
797
MYT011 Myotonia 40 0.046
798
RTN017 Retinal Detachment 58 0.046
799
P PRV002 Periventricular Nodular Heterotopia 46 0.046
800
OHD004 Ohdo Syndrome 33 0.046
801
BHR002 Bohring-Opitz Syndrome 35 0.046
802
ACR017 Acrofacial Dysostosis 21 0.046
803
CTS003 Coats Disease 57 0.045
804
c MNT224 Mental Retardation, X-Linked 101 17 0.045
805
P AGN002 Agnosia 56 0.045
806
PLG004 Plagiocephaly 40 0.045
807
GLB003 Globe Disease 34 0.045
808
P DNR001 Duane Retraction Syndrome 41 0.045
809
ALB002 Albinism 43 0.045
810
P ORT004 Orthostatic Intolerance 65 0.045
811
HMC014 Homocysteinemia 32 0.045
812
BLS001 Blau Syndrome 59 0.045
813
P BLD051 Blood Coagulation Disease 44 0.045
814
NNC002 Nance-Horan Syndrome 37 0.045
815
SCT005 Scott Syndrome 51 0.045
816
GLB001 Gilbert Syndrome 59 0.045
817
CNT098 Central Core Disease 68 0.045
818
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.045
819
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 20 0.045
820
ECT005 Ectropion 38 0.045
821
MHR001 Mohr-Tranebjaerg Syndrome 43 0.045
822
P ANR007 Anorexia Nervosa 63 0.045
823
BRW006 Brown Syndrome 31 0.045
824
P CLC005 Celiac Disease 67 0.045
825
OLG003 Oligohydramnios 52 0.045
826
VND002 Van Der Woude Syndrome 50 0.045
827
P ACR001 Aicardi-Goutieres Syndrome 54 0.044
828
YLL001 Yellow Nail Syndrome 48 0.044
829
ATS010 Autosomal Recessive Disease 40 0.044
830
EST005 Esotropia 39 0.044
831
SPS050 Spasticity Mental Retardation 8 0.044
832
CCH002 Coach Syndrome 53 0.044
833
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 33 0.044
834
CNG065 Congenital Contractures 27 0.044
835
HPT020 Hepatic Vascular Disease 43 0.044
836
WLC001 Wolcott-Rallison Syndrome 42 0.044
837
THR016 Thrombophlebitis 55 0.044
838
OLV001 Olivopontocerebellar Atrophy 53 0.044
839
PLM033 Pulmonary Embolism 59 0.044
840
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.044
841
c MNT144 Mental Retardation, Autosomal Dominant 6 20 0.044
842
MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 15 0.044
843
DVL001 Developmental Coordination Disorder 36 0.044
844
P ENC011 Encephalomyopathy 35 0.044
845
P CRP007 Carpenter Syndrome 49 0.044
846
NRN016 Neuronal Migration Disorders 41 0.044
847
SCH016 Schimke Immunoosseous Dysplasia 50 0.044
848
END030 End Stage Renal Failure 53 0.044
849
BLD054 Blood Protein Disease 38 0.044
850
SND002 Sneddon Syndrome 45 0.044
851
c CNG223 Congenital Methemoglobinemia 26 0.044
852
RHM027 Rheumatic Disease 55 0.043
853
P HMC002 Homocystinuria 52 0.043
854
P TRC091 Trichorhinophalangeal Syndrome, Type Ii 48 0.043
855
PLY012 Polyhydramnios 45 0.043
856
CYS013 Cystinuria 63 0.043
857
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 38 0.043
858
DSS009 Disseminated Intravascular Coagulation 52 0.043
859
P BRC015 Bruck Syndrome 44 0.043
860
P AND016 Andersen Syndrome 57 0.043
861
BRK001 Brooke-Spiegler Syndrome 47 0.043
862
KHL003 Kohlschutter-Tonz Syndrome 35 0.043
863
HMH002 Hemihypertrophy 37 0.043
864
MNT033 Mental Retardation X-Linked Dysmorphism 10 0.043
865
P RNL100 Renal Hypodysplasia/aplasia 1 54 0.043
866
HYP037 Hyperhomocysteinemia 49 0.043
867
P CHR071 Charcot-Marie-Tooth Disease 66 0.043
868
NNS031 Non-Syndromic Intellectual Disability 22 0.043
869
RVL002 Ruvalcaba Syndrome 32 0.043
870
P RTN016 Retinal Degeneration 50 0.043
871
FNC002 Functional Diarrhea 39 0.043
872
ANT011 Antisocial Personality Disorder 46 0.043
873
STT001 Status Epilepticus 59 0.043
874
BCK006 Back Pain 40 0.042
875
VTM002 Vitamin B12 Deficiency 45 0.042
876
PLM070 Pulmonic Stenosis 59 0.042
877
P GST044 Gastritis 64 0.042
878
P PRD008 Periodontitis 46 0.042
879
SCH002 Schnitzler Syndrome 47 0.042
880
VLV042 Vulvar Vestibulitis Syndrome 43 0.042
881
OPS006 Opsoclonus-Myoclonus Syndrome 47 0.042
882
MCR098 Microcephaly, Cortical Malformations, and Mental Retardation 13 0.042
883
P HYP061 Hypertrophic Cardiomyopathy 64 0.042
884
STR015 Stereotypic Movement Disorder 37 0.042
885
BNG009 Benign Epilepsy with Centrotemporal Spikes 42 0.042
886
FST001 Foster-Kennedy Syndrome 31 0.042
887
P CRB154 Cerebrocostomandibular Syndrome 33 0.042
888
CRN036 Craniopharyngioma 54 0.042
889
ADL030 Adult-Onset Still's Disease 57 0.042
890
CRB150 Cerebral Creatine Deficiency Syndrome 2 47 0.042
891
TTH006 Tooth Disease 52 0.042
892
P LSS027 Lissencephaly, X-Linked 42 0.042
893
TWN003 Townes-Brocks Syndrome 55 0.042
894
P SKN013 Skin Benign Neoplasm 38 0.042
895
VHW001 Vohwinkel Syndrome 47 0.042
896
OST017 Osteomyelitis 60 0.042
897
c DLT002 Dilated Cardiomyopathy 75 0.042
898
c CNT075 Central Precocious Puberty 49 0.042
899
CRH001 Crohn's Disease 76 0.042
900
c MNT198 Mental Retardation, X-Linked 98 22 0.042
901
P ENC008 Encephalocele 48 0.042
902
LBN003 Lubinsky Syndrome 14 0.042
903
BRW001 Brown-Vialetto-Van Laere Syndrome 30 0.042
904
YNG002 Young Syndrome 25 0.041
905
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 40 0.041
906
CHR078 Chorioretinitis 41 0.041
907
c MNT158 Mental Retardation, Autosomal Dominant 22 22 0.041
908
c MNT195 Mental Retardation, X-Linked 96 19 0.041
909
c MNT173 Mental Retardation, Autosomal Recessive 34 16 0.041
910
MTB004 Metabolic Acidosis 49 0.041
911
c MNT187 Mental Retardation, X-Linked 49 14 0.041
912
RDL002 Radioulnar Synostosis 45 0.041
913
P ENC021 Encephalopathy, Neonatal Severe 33 0.041
914
FML011 Familial Adenomatous Polyposis 68 0.041
915
TTR001 Tetralogy of Fallot 69 0.041
916
NRL016 Neural Tube Defects 76 0.041
917
CRP017 Carpal Tunnel Syndrome, Familial 44 0.041
918
P CWD001 Cowden Disease 63 0.041
919
P PRT013 Portal Hypertension 61 0.041
920
NPH003 Nephrocalcinosis 47 0.041
921
P CLB027 Coloboma, Ocular 28 0.041
922
SPL040 Split Hand 35 0.041
923
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 54 0.041
924
P HYP004 Hypercalcemia 54 0.041
925
HDN002 Head Injury 47 0.041
926
P MRN003 Marinesco-Sjogren Syndrome 37 0.041
927
MLR004 Malaria 80 0.041
928
HV1006 Hiv-1 80 0.041
929
P DNT011 Dentinogenesis Imperfecta 42 0.041
930
ATM012 Autoimmune Disease of Blood 36 0.041
931
PRN009 Paranoid Schizophrenia 47 0.041
932
P PRC031 Preeclampsia/eclampsia 1 53 0.041
933
THY028 Thyroid Cancer 71 0.041
934
3MS007 3-M Syndrome 1 42 0.041
935
ARS001 Aarskog-Scott Syndrome 52 0.040
936
MTR007 Motor Peripheral Neuropathy 44 0.040
937
LRN004 Laron Dwarfism 58 0.040
938
CRY010 Cryptophthalmos 23 0.040
939
BRS051 Breast Disease 57 0.040
940
P END044 Endometriosis 53 0.040
941
P VNT002 Ventricular Septal Defect 59 0.040
942
DNG002 Dengue Hemorrhagic Fever 60 0.040
943
P LKD001 Leukodystrophy 58 0.040
944
c PLY057 Polydactyly, Postaxial, Types A1 and B 29 0.040
945
NNN026 Noonan Syndrome with Multiple Lentigines 48 0.040
946
ISL001 Islet Cell Tumor 51 0.040
947
c HRD169 Hereditary Colorectal Cancer 42 0.040
948
P WRD001 Waardenburg's Syndrome 56 0.040
949
ARG002 Argininosuccinic Aciduria 57 0.040
950
FRS002 Frasier Syndrome 48 0.040
951
OBS003 Obsessive-Compulsive Personality Disorder 36 0.040
952
P HYP076 Hyperthyroidism 59 0.040
953
ATS008 Autosomal Dominant Disease 41 0.040
954
DYS073 Dysphagia 51 0.040
955
P XLN007 X-Linked Disease 34 0.040
956
ART001 Arterial Tortuosity Syndrome 51 0.040
957
LYS002 Lysosomal Storage Disease 51 0.040
958
P PLY018 Polycythemia 58 0.040
959
P ADM011 Adams-Oliver Syndrome 51 0.040
960
MTC056 Mitochondrial Dna Depletion Syndrome 4a 45 0.040
961
c MNT238 Mental Retardation, Autosomal Dominant 34 19 0.040
962
SHP002 Shprintzen-Goldberg Syndrome 53 0.039
963
VTM003 Vitamin Metabolic Disorder 31 0.039
964
P ADD001 Addison's Disease 60 0.039
965
TXC002 Toxic Encephalopathy 52 0.039
966
MCR037 Macroglossia 45 0.039
967
c ATS044 Autism Susceptibility, X-Linked 3 23 0.039
968
P GLY013 Glycogen Storage Disease 58 0.039
969
ISC002 Ischemic Optic Neuropathy 45 0.039
970
PTT041 Pituitary Stalk Interruption Syndrome 40 0.039
971
P ALX003 Alexander Disease 64 0.039
972
CNT097 Central Hypoventilation Syndrome, Congenital 59 0.039
973
BRT002 Birt-Hogg-Dube Syndrome 51 0.039
974
APP008 Appendicitis 61 0.039
975
c TRC078 Trichohepatoenteric Syndrome 2 30 0.039
976
P ESS003 Essential Thrombocythemia 66 0.039
977
CRB027 Cerebellar Disease 46 0.039
978
P ALP009 Alopecia Areata 62 0.039
979
c RNG013 Ring Chromosome 18 21 0.039
980
HTS001 Hiatus Hernia 40 0.039
981
MLT021 Multiple System Atrophy 71 0.039
982
BCK001 Becker Muscular Dystrophy 68 0.039
983
c MNT242 Mental Retardation, Autosomal Dominant 40 18 0.039
984
c MNT243 Mental Retardation, Autosomal Recessive 50 15 0.039
985
MNT069 Mental Retardation with Language Impairment and Autistic Features 5 0.039
986
GST023 Gastric Ulcer 56 0.039
987
c CRN173 Coronary Heart Disease 8 19 0.039
988
CNC002 Cinca Syndrome 55 0.039
989
c CHR095 Chronic Progressive External Ophthalmoplegia 48 0.039
990
PBL001 Piebaldism 56 0.039
991
PNS014 Penis Agenesis 16 0.039
992
P GLM045 Glioma 53 0.039
993
CTY001 Cat Eye Syndrome 42 0.038
994
HMG002 Hemoglobinuria 49 0.038
995
HYD012 Hydrops Fetalis 45 0.038
996
c TYR013 Tyrosinemia, Type Ii 44 0.038
997
DNG003 Dengue Disease 60 0.038
998
HYP141 Hyperphenylalaninemia 46 0.038
999
P JNC001 Junctional Epidermolysis Bullosa 52 0.038
1000
P CRB059 Cerebellar Degeneration 30 0.038
1001
ULN023 Ulnar Hypoplasia 20 0.038
1002
P ATP001 Atopic Dermatitis 60 0.038
1003
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 59 0.038
1004
c TRC092 Trichorhinophalangeal Syndrome, Type I 44 0.038
1005
FBR054 Fibroma 44 0.038
1006
SPS019 Spastic Paraparesis 34 0.038
1007
HYP085 Hypothalamic Disease 43 0.038
1008
ADR007 Adrenoleukodystrophy 74 0.038
1009
LWS003 Lowe Syndrome 61 0.038
1010
HYP264 Hypertonia 39 0.038
1011
P CNG123 Congenital Radio-Ulnar Synostosis 15 0.038
1012
SPS007 Spastic Cerebral Palsy 42 0.038
1013
ASP003 Aseptic Meningitis 51 0.038
1014
P HYP014 Hyperuricemia 49 0.038
1015
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.038
1016
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 28 0.038
1017
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.038
1018
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 26 0.038
1019
c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 23 0.038
1020
c MSC127 Musc