Search results for mental retardation syndrome

2759 hits were found for mental retardation syndrome

# Family MCID Name MIFTS Score
1
RNP001 Renpenning Syndrome 47 4.230
2
P MNT135 Mental Retardation, X-Linked, Syndromic 13 35 3.913
3
c MNT109 Mental Retardation, X-Linked, Syndromic 15 35 3.717
4
MNT061 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 3.699
5
P FRG001 Fragile X Syndrome 69 3.578
6
MNT208 Mental Retardation, X-Linked Syndromic, Lubs Type 42 3.096
7
CRB106 Cerebellar Hypoplasia and Mental Retardation with or Without Quadrupedal Locomotion 1 41 3.059
8
MCR216 Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation 27 3.042
9
c MNT230 Mental Retardation, X-Linked Syndromic 5 41 3.018
10
ALP095 Alpha Thalassemia-X-Linked Intellectual Disability Syndrome 29 3.003
11
CRP019 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 24 2.954
12
WLS004 Wilson-Turner Syndrome 38 2.948
13
MNT054 Mental Retardation, X-Linked, Snyder-Robinson Type 41 2.917
14
MNT139 Mental Retardation, X-Linked Syndromic, Turner Type 23 2.871
15
MSS001 Masa Syndrome 52 2.814
16
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 39 2.808
17
BRK009 Birk-Barel Mental Retardation Dysmorphism Syndrome 28 2.773
18
P MWT001 Mowat-Wilson Syndrome 46 2.771
19
MNT231 Mental Retardation, X-Linked Syndromic, Nascimento-Type 25 2.770
20
MNT228 Mental Retardation, X-Linked, Syndromic, Claes-Jensen Type 26 2.756
21
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 26 2.692
22
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 38 2.661
23
PRT003 Partington Syndrome 43 2.660
24
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 51 2.644
25
WGR001 Wagr Syndrome 53 2.496
26
CRB092 Cerebellar Ataxia and Mental Retardation with or Without Quadrupedal Locomotion 3 18 2.488
27
MNT229 Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 26 2.480
28
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 33 2.429
29
WDH003 Woodhouse-Sakati Syndrome 41 2.425
30
P CRB136 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2 20 2.408
31
c HYP553 Hyperphosphatasia with Mental Retardation Syndrome 3 18 2.386
32
WSM002 Waisman Syndrome 32 2.353
33
c HYP441 Hyperphosphatasia with Mental Retardation Syndrome 1 26 2.352
34
c MNT207 Mental Retardation, X-Linked, Syndromic 32 24 2.325
35
MNT112 Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis 26 2.311
36
c XLN042 X-Linked Mental Retardation 21 23 2.300
37
MNT232 Mental Retardation, X-Linked Syndromic, Raymond Type 19 2.300
38
MNT053 Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations 26 2.260
39
GLL028 Gillespie Syndrome 38 2.257
40
c MNT155 Mental Retardation, Autosomal Recessive 2 21 2.251
41
P MNT203 Mental Retardation, X-Linked 30/47 17 2.251
42
HYP134 Hypoparathyroidism-Retardation-Dysmorphism Syndrome 34 2.249
43
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 2.220
44
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 37 2.203
45
P BRT040 Baraitser-Winter Syndrome 31 2.181
46
MNT068 Mental Retardation, X-Linked, Fraxe Type 20 2.166
47
ARM006 Armfield X-Linked Mental Retardation Syndrome 17 2.150
48
SSM001 Sesame Syndrome 52 2.146
49
c MNT149 Mental Retardation, X-Linked 3 29 2.141
50
c MNT258 Mental Retardation, X-Linked, Syndromic, Wu Type 23 2.140
51
CWC001 Cowchock Syndrome 36 2.140
52
c HYP442 Hyperphosphatasia with Mental Retardation Syndrome 2 19 2.123
53
STC002 Stocco Dos Santos X-Linked Mental Retardation Syndrome 16 2.121
54
c MNT196 Mental Retardation, X-Linked 92 18 2.115
55
c MNT154 Mental Retardation, Autosomal Recessive 14 21 2.107
56
c MNT150 Mental Retardation, Autosomal Recessive 15 21 2.105
57
c MNT151 Mental Retardation, Autosomal Recessive 18 18 2.105
58
KBG001 Kbg Syndrome 48 2.089
59
c BRT038 Baraitser-Winter Syndrome 1 35 2.068
60
SCH022 Schimke X-Linked Mental Retardation Syndrome 12 2.052
61
MNT038 Mental Retardation, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 18 1.990
62
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 35 1.988
63
MDN005 Mednik Syndrome 39 1.976
64
c MNT185 Mental Retardation, Autosomal Dominant 7 24 1.970
65
c MNT191 Mental Retardation, X-Linked, Syndromic 17 18 1.969
66
ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 29 1.964
67
c MNT157 Mental Retardation, Autosomal Dominant 18 20 1.961
68
c MNT159 Mental Retardation, Autosomal Dominant 19 19 1.960
69
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 39 1.949
70
XLN134 X-Linked Intellectual Disability, Siderius Type 17 1.949
71
c HYP580 Hyperphosphatasia with Mental Retardation Syndrome 4 16 1.946
72
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 30 1.942
73
ART002 Arts Syndrome 51 1.935
74
MNT201 Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type 14 1.933
75
MLS002 Miles-Carpenter X-Linked Mental Retardation Syndrome 17 1.925
76
c CRB141 Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4 17 1.918
77
c MNT171 Mental Retardation, Autosomal Dominant 17 22 1.882
78
SCP007 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 22 1.875
79
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 22 1.851
80
c MNT226 Mental Retardation, Autosomal Dominant 31 20 1.845
81
c MNT212 Mental Retardation, Autosomal Dominant 26 20 1.844
82
c MNT246 Mental Retardation, Autosomal Dominant 38 20 1.836
83
P CFF001 Coffin-Siris Syndrome 51 1.836
84
FLP001 Filippi Syndrome 26 1.821
85
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 1.814
86
ART103 Arthrogryposis, Mental Retardation, and Seizures 22 1.808
87
TMP011 Temple-Baraitser Syndrome 30 1.803
88
c MNT211 Mental Retardation, Autosomal Dominant 23 20 1.802
89
c MNT166 Mental Retardation, Autosomal Recessive 39 19 1.802
90
c MNT156 Mental Retardation, Autosomal Dominant 14 23 1.800
91
c MNT169 Mental Retardation, Autosomal Recessive, 37 22 1.800
92
c MNT183 Mental Retardation, Autosomal Recessive 36 20 1.800
93
c MNT216 Mental Retardation, Autosomal Recessive 41 19 1.800
94
c SYN080 Syndromic X-Linked Intellectual Disability 34 13 1.799
95
c MNT153 Mental Retardation, Autosomal Dominant 15 22 1.799
96
c MNT152 Mental Retardation, Autosomal Dominant 16 21 1.799
97
BRJ001 Borjeson-Forssman-Lehmann Syndrome 43 1.781
98
EPL149 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 21 1.781
99
MLS013 Miles-Carpenter Syndrome 28 1.773
100
RDL014 Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation 17 1.760
101
c MNT197 Mental Retardation, X-Linked, Syndromic 9 17 1.759
102
MNT030 Mental Retardation Syndrome, Belgian Type 12 1.756
103
MNT254 Mental Retardation Syndrome, Mietens-Weber Type 15 1.756
104
CHM006 Chime Syndrome 32 1.752
105
SYN081 Syndromic X-Linked Intellectual Disability Abidi Type 9 1.749
106
ABS020 Absent Eyebrows and Eyelashes with Mental Retardation 17 1.748
107
SYN083 Syndromic X-Linked Intellectual Disability Shashi Type 12 1.743
108
c HYP593 Hyperphosphatasia with Mental Retardation Syndrome 5 14 1.739
109
P RBN001 Rubinstein-Taybi Syndrome 64 1.738
110
MNT260 Mental Retardation, X-Linked, Syndromic, Wilson-Turner Type 10 1.727
111
c SPS020 Spastic Paraplegia 1 23 1.714
112
HRD035 Hair Defect with Photosensitivity and Mental Retardation 14 1.708
113
GNT031 Genitopatellar Syndrome 39 1.696
114
CHR543 Chromosome 2q37 Deletion Syndrome 28 1.669
115
XLN025 X-Linked Mental Retardation Gustavson Type 5 1.639
116
c MNT248 Mental Retardation, X-Linked 102 22 1.639
117
MNT029 Mental Retardation Spasticity Ectrodactyly 5 1.632
118
MTP032 Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness 16 1.630
119
c MNT241 Mental Retardation, Autosomal Dominant 32 20 1.628
120
c MNT213 Mental Retardation, Autosomal Recessive 40 20 1.626
121
c MNT179 Mental Retardation, Autosomal Dominant 21 19 1.626
122
PCD002 Pcdh19-Related Female-Limited Epilepsy 12 1.609
123
JWD001 Jawad Syndrome 31 1.608
124
2Q3002 2q37 Microdeletion Syndrome 15 1.601
125
ALP035 Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis 22 1.590
126
OLV004 Oliver-Mcfarlane Syndrome 29 1.581
127
HMM004 Hamamy Syndrome 22 1.581
128
CLB014 Coloboma, Cleft Lip/palate and Mental Retardation Syndrome 7 1.570
129
CFF002 Coffin-Lowry Syndrome 55 1.565
130
BLB005 Beaulieu-Boycott-Innes Syndrome 22 1.563
131
DFN017 Deafness Onychodystrophy Osteodystrophy and Mental Retardation Syndrome 11 1.553
132
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 14 1.546
133
P FNG005 Feingold Syndrome 42 1.546
134
SCT004 Scott Bryant Graham Syndrome 11 1.542
135
MND020 Mandibulofacial Dysostosis, Guion-Almeida Type 30 1.539
136
PTR028 Pterygia, Mental Retardation, and Distinctive Craniofacial Features 16 1.539
137
HLL013 Hall-Riggs Mental Retardation Syndrome 16 1.536
138
MRF017 Marfanoid Mental Retardation Syndrome, Autosomal 17 1.532
139
SLC019 Slc9a6-Related Syndromic Mental Retardation 11 1.530
140
c MNT235 Mental Retardation, Autosomal Dominant 37 20 1.530
141
c MNT265 Mental Retardation, X-Linked, Syndromic, 33 12 1.524
142
P ALP076 Alopecia-Mental Retardation Syndrome 1 9 1.522
143
HYP229 Hypospadias Mental Retardation Goldblatt Type 6 1.518
144
DRS004 Door Syndrome 40 1.517
145
HLS003 Helsmoortel-Van Der Aa Syndrome 22 1.516
146
P FCL005 Focal Segmental Glomerulosclerosis 60 1.513
147
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 17 1.509
148
FLL034 Fallot Complex with Severe Mental and Growth Retardation 11 1.507
149
ALP067 Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome 11 1.501
150
KFM001 Kaufman Oculocerebrofacial Syndrome 31 1.500
151
ABD008 Abidi X-Linked Mental Retardation Syndrome 13 1.499
152
c ALP075 Alopecia-Mental Retardation Syndrome 2 8 1.498
153
c ALP063 Alopecia-Mental Retardation Syndrome 3 7 1.497
154
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 12 1.492
155
c TRC102 Trichothiodystrophy 1, Photosensitive 49 1.484
156
CLF037 Cleft Lip/palate-Ectodermal Dysplasia Syndrome 40 1.472
157
SPS195 Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 12 1.472
158
AYM001 Ayme-Gripp Syndrome 41 1.472
159
MNT060 Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor 10 1.469
160
HYD054 Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 8 1.468
161
HYD014 Hyde Forster Mccarthy Berry Syndrome 10 1.467
162
NCL006 Nicolaides-Baraitser Syndrome 37 1.453
163
MNT237 Mental Retardation with Language Impairment and with or Without Autistic Features 24 1.443
164
GRW004 Growth Retardation with Deafness and Mental Retardation Due to Igf1 Deficiency 39 1.435
165
RTN071 Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 17 1.434
166
c MNT234 Mental Retardation, Autosomal Recessive 48 19 1.429
167
SPS193 Spastic Paraplegia, Epilepsy, and Mental Retardation 13 1.429
168
SPS194 Spastic Paresis, Glaucoma, and Mental Retardation 12 1.424
169
TMT003 Temtamy Syndrome 25 1.414
170
PRT110 Prieto Syndrome 20 1.383
171
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 40 1.378
172
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 35 1.368
173
CHR580 Choroid Plexus Calcification and Mental Retardation 13 1.352
174
GLL032 Galloway-Mowat Syndrome 51 1.317
175
GMS002 Gms Syndrome 21 1.317
176
LSC001 Lesch-Nyhan Syndrome 61 1.317
177
LJN002 Lujan Syndrome 21 1.308
178
c ARD003 Arid1b-Related Coffin-Siris Syndrome 13 1.307
179
HYP688 Hypospadias-Mental Retardation Syndrome 16 1.306
180
BRC097 Brachycephaly, Deafness, Cataract, Microstomia, and Mental Retardation 21 1.304
181
ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 23 1.304
182
DBT089 Diabetes Insipidus, Nephrogenic, with Mental Retardation and Intracerebral Calcification 14 1.297
183
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 37 1.294
184
PRT055 Prieto X-Linked Mental Retardation Syndrome 13 1.289
185
ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 17 1.288
186
TRN026 Tranebjaerg Svejgaard Syndrome 8 1.287
187
STC008 Stocco Dos Santos Syndrome 10 1.285
188
DBW001 Dubowitz Syndrome 41 1.284
189
LJN003 Lujan-Fryns Syndrome 30 1.284
190
ADN078 Adnp Syndrome 12 1.283
191
P WVR001 Weaver Syndrome 56 1.282
192
P HYP440 Hyperphosphatasia with Mental Retardation Syndrome 21 1.282
193
P SJG002 Sjogren-Larsson Syndrome 50 1.270
194
HRS040 Hirsutism, Skeletal Dysplasia, and Mental Retardation 16 1.267
195
HYP686 Hypogonadism, Male, with Mental Retardation and Skeletal Anomalies 13 1.267
196
c MCR259 Microcephaly and Chorioretinopathy, Autosomal Recessive, 1 21 1.266
197
CHR506 Choroideremia, Deafness, and Mental Retardation 17 1.266
198
CLB031 Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 11 1.262
199
CYS040 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 20 1.262
200
MNT255 Mental Retardation and Psoriasis 13 1.260
201
P SMP003 Simpson-Golabi-Behmel Syndrome 51 1.257
202
CRB158 Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome 18 1.255
203
ALP091 Alopecia-Contractures-Dwarfism Mental Retardation Syndrome 19 1.255
204
RTN075 Retinopathy Pigmentary Mental Retardation 6 1.246
205
HNN001 Hennekam Syndrome 41 1.244
206
MNT028 Mental Retardation Smith Fineman Myers Type 8 1.241
207
MNT268 Mental Retardation, X-Linked, Syndromic, Borck Type 9 1.239
208
MNT269 Mental Retardation, X-Linked, Syndromic, Bain Type 8 1.239
209
ICH068 Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 13 1.236
210
P PTT014 Pitt-Hopkins Syndrome 47 1.235
211
c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 10 1.234
212
CRN099 Craniosynostosis Mental Retardation Clefting Syndrome 7 1.234
213
MNT257 Mental Retardation, X-Linked, with Craniofacial Dysmorphism 18 1.234
214
LMB066 Limb Defects, Distal Transverse, with Mental Retardation and Spasticity 13 1.231
215
WLF012 Wolff Mental Retardation Syndrome 19 1.231
216
PTR031 Pterygium Colli and Mental Retardation with Facial and Digital Anomalies 12 1.228
217
c ARD002 Arid1a-Related Coffin-Siris Syndrome 8 1.222
218
XLN162 X-Linked Intellectual Disability, Najm Type 13 1.220
219
c CHR319 Charcot-Marie-Tooth Neuropathy X Type 4 13 1.215
220
5Q2001 5q22 Deletion Syndrome 6 1.215
221
AMS002 Amish Infantile Epilepsy Syndrome 35 1.211
222
CTR029 Cataracts, Ataxia, Short Stature, and Mental Retardation 10 1.198
223
GST054 Gustavson Syndrome 17 1.196
224
DND020 Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy 15 1.196
225
c MNT239 Mental Retardation, Autosomal Dominant 35 18 1.193
226
c MNT245 Mental Retardation, Autosomal Dominant 36 17 1.193
227
EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15 1.193
228
MCR038 Macrogyria, Pseudobulbar Palsy and Mental Retardation 3 1.193
229
MNT040 Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 3 1.189
230
CRY028 Cryohydrocytosis, Stomatin-Deficient, with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly 19 1.188
231
c MNT181 Mental Retardation, Autosomal Recessive 35 16 1.186
232
MNT256 Mental Retardation, Buenos Aires Type 15 1.186
233
CBT001 Cubitus Valgus with Mental Retardation and Unusual Facies 14 1.186
234
TMT002 Temtamy Preaxial Brachydactyly Syndrome 27 1.182
235
INT090 Intellectual Deficit Buenos-Aires Type 5 1.177
236
ALL001 Allan-Herndon-Dudley Syndrome 46 1.139
237
SYB002 Say-Barber-Biesecker Variant of Ohdo Syndrome 12 1.137
238
BLP010 Blepharophimosis Intellectual Disability Syndromes 18 1.134
239
RRD001 Reardon Wilson Cavanagh Syndrome 7 1.126
240
AKS001 Akesson Syndrome 8 1.124
241
NSY001 N Syndrome 36 1.121
242
OHD003 Ohdo Syndrome, X-Linked 22 1.112
243
WDM004 Wiedemann-Steiner Syndrome 38 1.112
244
LBN005 Lubani-Al Saleh-Teebi Syndrome 6 1.105
245
P WRB001 Warburg Micro Syndrome 33 1.097
246
ALD006 Aldred Syndrome 5 1.097
247
RCH002 Richards-Rundle Syndrome 23 1.082
248
FTZ005 Fitzsimmons-Guilbert Syndrome 20 1.071
249
DBR002 De Barsy Syndrome 28 1.063
250
KND003 Kondoh Syndrome 10 1.062
251
CRT027 Cartwright Nelson Fryns Syndrome 4 1.060
252
2Q3001 2q37 Deletion Syndrome 13 1.057
253
KHR001 Kahrizi Syndrome 21 1.056
254
OLV002 Oliver Syndrome 43 1.052
255
c MCR262 Microphthalmia, Syndromic 4 20 1.051
256
GRR002 Gurrieri Syndrome 20 1.046
257
P ALP068 Alopecia-Intellectual Disability Syndrome 16 1.046
258
CKS001 Ck Syndrome 27 1.041
259
MGL033 Megalocornea-Mental Retardation Syndrome 20 1.036
260
MCR052 Microcephaly Microcornea Syndrome Seemanova Type 17 1.035
261
MCR306 Microcephaly-Deafness Syndrome 15 1.034
262
BHR001 Behr Syndrome 42 1.033
263
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 37 1.027
264
MLP003 Male Pseudohermaphroditism Intellectual Disability Syndrome, Verloes Type 7 1.025
265
XGB001 Xia-Gibbs Syndrome 16 1.022
266
ZLT002 Zlotogora Syndrome 9 1.017
267
c SYN078 Syndromic X-Linked Intellectual Disability Type 10 24 1.016
268
PLL004 Pallister W Syndrome 16 1.014
269
OCL043 Oculorenocerebellar Syndrome 15 1.013
270
c BMN004 Biemond Syndrome Ii 14 1.013
271
FGS004 Fg Syndrome 4 25 1.010
272
MLP006 Male Pseudohermaphroditism/mental Retardation Syndrome, Verloes Type 16 1.010
273
NNS032 Non-Syndromic X-Linked Intellectual Disability 28 1.004
274
MGL027 Megalocornea-Intellectual Disability Syndrome 14 1.002
275
c DFN036 Deafness, X-Linked 2 33 0.998
276
OHD001 Ohdo Syndrome, Maat-Kievit-Brunner Type 6 0.993
277
MCR066 Microcephaly-Cardiomyopathy 17 0.991
278
OST149 Osteolysis Syndrome, Recessive 14 0.991
279
MCD002 Mcdonough Syndrome 23 0.990
280
BRK011 Brooks-Wisniewski-Brown Syndrome 19 0.990
281
MTP004 Metaphyseal Acroscyphodysplasia 18 0.989
282
5Q1001 5q14.3 Microdeletion Syndrome 13 0.979
283
LWR016 Lowry-Maclean Syndrome 16 0.974
284
SYN079 Syndromic X-Linked Intellectual Disability Siderius Type 14 0.971
285
BRC089 Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome 13 0.969
286
OST047 Osteopenia and Sparse Hair 13 0.963
287
CDL001 Caudal Appendage Deafness 7 0.963
288
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 37 0.960
289
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 28 0.959
290
ICH065 Ichthyosis with Alopecia, Eclabium, Ectropion, and Mental Retardation 13 0.958
291
c MCR247 Microcephaly 1, Primary, Autosomal Recessive 32 0.957
292
CHD003 Chudley Rozdilsky Syndrome 7 0.956
293
MNT253 Mental Retardation with Spastic Paraplegia and Palmoplantar Hyperkeratosis 14 0.955
294
c ALP081 Alopecia Intellectual Disability Syndrome 2 7 0.955
295
MYT024 Myotonia with Skeletal Abnormalities and Mental Retardation 15 0.954
296
MNT251 Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 13 0.954
297
MNT259 Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies 14 0.954
298
CRN267 Corneal Hypesthesia with Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, and Mental Retardation 12 0.954
299
ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 11 0.954
300
MLT146 Multicore Myopathy with Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism 15 0.953
301
PLT011 Pilotto Syndrome 17 0.950
302
SPS196 Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 13 0.950
303
TKN001 Takenouchi-Kosaki Syndrome 14 0.948
304
KCN019 Kcnk9 Imprinting Syndrome 6 0.948
305
WDM002 Wiedemann Oldigs Oppermann Syndrome 4 0.948
306
c SYN056 Syndromic X-Linked Intellectual Disability 7 16 0.945
307
GRX001 Grix Blankenship Peterson Syndrome 13 0.940
308
KTS001 Katsantoni Papadakou Lagoyanni Syndrome 4 0.940
309
WGR002 Wagro Syndrome 10 0.940
310
DVS001 Davis Lafer Syndrome 4 0.940
311
SMT020 Smith-Kingsmore Syndrome 18 0.939
312
SNG001 Singh Chhaparwal Dhanda Syndrome 3 0.939
313
c ALD008 Aldh18a1-Related Cutis Laxa 16 0.937
314
HYP629 Hyperphosphatasia-Intellectual Disability Syndrome 19 0.937
315
XLN023 X-Linked Mental Retardation Craniofacial Abnormal Microcephaly Club 6 0.937
316
XLN106 X-Linked Intellectual Disability with or Without Nystagmus 9 0.937
317
c SYN019 Syndactyly Type 1 with Cataracts and Mental Retardation 6 0.935
318
ICH006 Ichthyosis Alopecia Eclabion Ectropion Mental Retardation 4 0.935
319
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 48 0.935
320
MCR032 Macrocephaly, Mental Retardation, Short Stature, Spastic Paraplegia and Cns Malformations 4 0.932
321
LPD041 Lipodystrophy, Generalized, with Mental Retardation, Deafness, Short Stature, and Slender Bones 15 0.925
322
ARL006 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 13 0.921
323
BLP044 Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 13 0.919
324
BTT012 Battaglia-Neri Syndrome 6 0.916
325
TNK001 Tonoki Syndrome 5 0.916
326
RMS002 Ramos Arroyo Clark Syndrome 4 0.915
327
c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 25 0.913
328
RZC001 Ruzicka Goerz Anton Syndrome 4 0.912
329
INT273 Intellectual Disability, Epileptic Seizures, Hypogonadism and Hypogenitalism, Microcephaly, and Obesity 9 0.912
330
DVR003 Devriendt Syndrome 8 0.909
331
SYN070 Syngap1-Related Non-Syndromic Intellectual Disability 8 0.909
332
CMR003 Camera Marugo Cohen Syndrome 7 0.909
333
CLR029 Clark-Baraitser Syndrome 11 0.909
334
KRN006 Karandikar Maria Kamble Syndrome 5 0.908
335
PFF002 Pfeiffer Kapferer Syndrome 5 0.908
336
WLK002 Walker Dyson Syndrome 6 0.907
337
KZL006 Kozlowski-Krajewska Syndrome 5 0.907
338
CNT052 Cantalamessa Baldini Ambrosi Syndrome 4 0.907
339
KSZ002 Kosztolanyi Syndrome 4 0.907
340
PFF003 Pfeiffer Mayer Syndrome 4 0.907
341
PSS001 Passos-Bueno Syndrome 6 0.906
342
ZRR001 Zerres Rietschel Majewski Syndrome 5 0.906
343
KNR001 Koone Rizzo Elias Syndrome 4 0.906
344
PSS002 Piussan Lenaerts Mathieu Syndrome 4 0.906
345
ZZM001 Zazam Sheriff Phillips Syndrome 4 0.906
346
DKR001 Duker Weiss Siber Syndrome 3 0.906
347
FNG007 Feingold Trainer Syndrome 3 0.906
348
HRD065 Hordnes Engebretsen Knudtson Syndrome 3 0.906
349
KZL003 Kozlowski Ouvrier Syndrome 3 0.906
350
PLN009 Palant Cleft Palate Syndrome 3 0.906
351
MCR305 Microcephaly with Cervical Spine Fusion Anomalies 17 0.905
352
EPL162 Epilepsy-Telangiectasia 16 0.903
353
DXT003 Dextrocardia with Unusual Facies and Microphthalmia 9 0.903
354
BRT020 Baraitser Rodeck Garner Syndrome 3 0.902
355
PLY042 Polyneuropathy Mental Retardation Acromicria Premature Menopause 5 0.894
356
MNT250 Mental Retardation with Spastic Paraplegia 11 0.890
357
CRN079 Craniodigital Syndrome Mental Retardation 3 0.887
358
ICH027 Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin 5 0.886
359
PRT057 Proteus Like Syndrome Mental Retardation Eye Defect 3 0.886
360
MNT026 Mental Retardation Short Stature Microcephaly Eye 4 0.882
361
MNT025 Mental Retardation Short Stature Deafness Genital 3 0.882
362
ART029 Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 13 0.882
363
ULN022 Ulnar Hypoplasia with Mental Retardation 11 0.879
364
LKM069 Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 14 0.876
365
NRP046 Neuropathy, Hereditary Motor and Sensory, with Deafness, Mental Retardation, and Absent Sensory Large Myelinated Fibers 11 0.876
366
SPN344 Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 9 0.876
367
XLN128 X-Linked Intellectual Disability, Abidi Type 11 0.871
368
c MRN006 Marinesco-Sjogren-Like Syndrome 4 0.864
369
AMP011 Ampola Syndrome 4 0.864
370
CFF005 Coffin–lowry Syndrome 4 0.863
371
INT089 Intellectual Deficit - Short Stature - Hypertelorism 5 0.861
372
SPS047 Spastic Paraplegia with Precocious Puberty 11 0.860
373
AMY096 Amyloidosis of Gingiva and Conjunctiva with Intellectual Disability 7 0.860
374
MST010 Mastocytosis Cutaneous with Short Stature Conductive Hearing Loss and Microtia 6 0.860
375
P INT063 Intellectual Disability 49 0.220
376
P MCR010 Microcephaly 58 0.195
377
P EPL164 Epilepsy 66 0.193
378
PSY004 Psychotic Disorder 67 0.190
379
DSS008 Disease of Mental Health 52 0.156
380
P OBS005 Obesity 92 0.146
381
P ATX004 Ataxia 53 0.143
382
P HYP265 Hypotonia 38 0.139
383
CRB009 Cerebritis 39 0.137
384
P SCH015 Schizophrenia 77 0.134
385
ALR002 Al-Raqad Syndrome 36 0.131
386
DWN001 Down Syndrome 66 0.127
387
RTN023 Retinitis 50 0.126
388
P ATS049 Autism Susceptibility, X-Linked 2 33 0.124
389
SPS057 Spasticity 42 0.124
390
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.121
391
NRN002 Neuronitis 41 0.119
392
P CTR002 Cataract 58 0.117
393
MYL009 Myelodysplastic Syndrome 73 0.116
394
P PLY011 Polycystic Ovary Syndrome 65 0.113
395
P RTT002 Rett Syndrome 77 0.109
396
TTR016 Tetra-Amelia Syndrome 36 0.108
397
P HRT032 Heart Disease 75 0.107
398
AND005 Androgen Insensitivity Syndrome, Mild 16 0.107
399
LRN003 Learning Disability 49 0.105
400
CHL071 Child Syndrome 58 0.105
401
HPT074 Hepatic Adenoma, Somatic 50 0.105
402
HYP080 Hypogonadism 53 0.104
403
P HPT021 Hepatitis 69 0.103
404
HNM002 Hinman Syndrome 25 0.103
405
KDS001 Kid Syndrome 53 0.103
406
P ICH004 Ichthyosis 52 0.102
407
P PRD006 Prader-Willi Syndrome 62 0.101
408
P ENC018 Encephalopathy 59 0.099
409
P LKM002 Leukemia 71 0.098
410
P THL005 Thalassemia 64 0.097
411
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.097
412
ACQ007 Acquired Immunodeficiency Syndrome 60 0.097
413
CND002 Conduct Disorder 54 0.096
414
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.095
415
P MSC005 Muscular Dystrophy 65 0.095
416
ANX002 Anxiety Disorder 67 0.095
417
P SHR029 Short Syndrome 58 0.093
418
P BRC006 Brachydactyly 54 0.093
419
CLF001 Cleft Lip 50 0.092
420
CSY001 C Syndrome 50 0.091
421
EXF001 Exfoliation Syndrome 57 0.091
422
P PTS002 Ptosis 51 0.091
423
P MYP004 Myopathy 67 0.090
424
P ANG001 Angelman Syndrome 61 0.090
425
P ANT006 Antiphospholipid Syndrome 56 0.088
426
P PLY006 Polydactyly 56 0.087
427
P BPL003 Bipolar Disorder 62 0.086
428
P THY032 Thyroiditis 54 0.086
429
P TRN020 Turner Syndrome 65 0.085
430
P NRP001 Neuropathy 59 0.084
431
P PLN008 Peeling Skin Syndrome 45 0.084
432
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.083
433
P CRD011 Cardiomyopathy 68 0.082
434
c BRN108 Branchiootic Syndrome 1 34 0.082
435
SLP005 Sleep Disorder 53 0.082
436
P ART022 Arthritis 75 0.082
437
CHR066 Chronic Fatigue Syndrome 64 0.082
438
WLL006 Wells Syndrome 59 0.082
439
P CRB042 Cerebellar Ataxia 63 0.082
440
P SYN001 Syndactyly 53 0.081
441
BLP004 Blepharophimosis 38 0.080
442
P CRN037 Craniosynostosis 66 0.080
443
P CSH001 Cushing's Syndrome 65 0.079
444
P LNG028 Long Qt Syndrome 64 0.079
445
WLL001 Williams-Beuren Syndrome 60 0.079
446
P ALP004 Alport Syndrome 69 0.079
447
OBS015 Obesity, Hyperphagia, and Developmental Delay 41 0.078
448
HYP077 Hypertrichosis 44 0.078
449
SMT004 Smith-Lemli-Opitz Syndrome 66 0.078
450
P EHL001 Ehlers-Danlos Syndrome 63 0.078
451
P SYN064 Syndromic X-Linked Intellectual Disability 28 0.078
452
DMN002 Dementia 65 0.077
453
P ANR002 Aniridia 64 0.077
454
ALP008 Alopecia 57 0.077
455
WST001 West Syndrome 57 0.077
456
PRP016 Paraplegia 49 0.076
457
DRG001 Drug Psychosis 38 0.076
458
P PRS038 Personality Disorder 62 0.075
459
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.075
460
P LYM118 Lymphoma 69 0.075
461
P CRV039 Cervicitis 45 0.074
462
DWR001 Dwarfism 47 0.074
463
NTR005 Nutritional Deficiency Disease 36 0.074
464
INS024 Insulin-Like Growth Factor I 75 0.074
465
P HYP086 Hypothyroidism 64 0.073
466
P FTL001 Fetal Alcohol Syndrome 53 0.073
467
MCR013 Microphthalmia 60 0.073
468
P HML001 Hemolytic-Uremic Syndrome 51 0.072
469
P ATS007 Autism Spectrum Disorder 65 0.072
470
NRL004 Neuroleptic Malignant Syndrome 41 0.072
471
P HYD006 Hydrocephalus 66 0.072
472
ATS001 Autistic Disorder 63 0.072
473
GDS001 Good Syndrome 44 0.072
474
GNG013 Gingivitis 61 0.072
475
P TRM003 Tremor 54 0.071
476
PHY002 Physical Disorder 43 0.071
477
HLL004 Hellp Syndrome 50 0.071
478
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.071
479
PRV006 Pervasive Developmental Disorder 53 0.071
480
P FNC043 Fanconi Anemia, Complementation Group E 55 0.071
481
ADP007 Adie Pupil 34 0.071
482
MRG013 Mirage Syndrome 29 0.071
483
RST001 Restless Legs Syndrome 54 0.070
484
ANR040 Aneurysm 57 0.070
485
GRW007 Growth Hormone Deficiency 50 0.070
486
BNM001 Bone Marrow Cancer 51 0.070
487
DYS018 Dysostosis 44 0.070
488
CMP010 Complex Regional Pain Syndrome 54 0.070
489
CRB045 Cerebellar Hypoplasia 48 0.069
490
MVM001 Movement Disease 49 0.069
491
PRD011 Proud Syndrome 42 0.069
492
THR013 Thoracic Outlet Syndrome 50 0.069
493
P BRD002 Bardet-Biedl Syndrome 63 0.068
494
END072 Endotheliitis 42 0.068
495
P HYP024 Hypoparathyroidism 53 0.068
496
P PNM007 Pneumonia 68 0.068
497
CRB037 Cerebral Palsy 66 0.067
498
KLN001 Klinefelter's Syndrome 50 0.067
499
WBR001 Weber Syndrome 41 0.067
500
ATT013 Attention Deficit-Hyperactivity Disorder 69 0.067
501
SNS001 Sensorineural Hearing Loss 57 0.066
502
P ADL010 Adult Respiratory Distress Syndrome 61 0.066
503
P SZR006 Seizure Disorder 56 0.066
504
P SLV001 Silver-Russell Syndrome 54 0.066
505
P HYP060 Hyperinsulinism 58 0.066
506
SPC010 Speech and Communication Disorders 41 0.066
507
ECT006 Ectodermal Dysplasia 52 0.066
508
ACD009 Acid-Labile Subunit, Deficiency of 45 0.066
509
P RHM011 Rheumatoid Arthritis 89 0.066
510
P MYL006 Myeloid Leukemia 66 0.066
511
MNT014 Mental Retardation Epilepsy 22 0.066
512
P CRN015 Cornelia De Lange Syndrome 62 0.065
513
P THR014 Thrombocytopenia 64 0.065
514
CHR001 Churg-Strauss Syndrome 49 0.065
515
TXC005 Toxic Shock Syndrome 60 0.065
516
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.065
517
P SPS003 Spastic Diplegia 52 0.064
518
THR024 Thrombosis 57 0.064
519
CLF004 Cleft Lip/palate 46 0.064
520
P SCL018 Scoliosis 55 0.064
521
P PNC044 Pancreatitis 61 0.064
522
P HYP098 Hypereosinophilic Syndrome 63 0.064
523
P HYP055 Hypoplastic Left Heart Syndrome 61 0.064
524
CHN016 Cohen Syndrome 54 0.064
525
P BCK002 Beckwith-Wiedemann Syndrome 56 0.064
526
LNN001 Lennox-Gastaut Syndrome 57 0.064
527
BRT030 Birth Defects 43 0.063
528
ATH003 Atherosclerosis 65 0.063
529
c PLN021 Peeling Skin Syndrome 3 29 0.063
530
c PLN018 Peeling Skin Syndrome 2 40 0.062
531
P WSK001 Wiskott-Aldrich Syndrome 73 0.062
532
SMT008 Smith-Magenis Syndrome 52 0.062
533
AND015 Androgen Insensitivity 64 0.062
534
BRN106 Burns 52 0.062
535
WRN001 Werner Syndrome 67 0.062
536
P RTN008 Retinitis Pigmentosa 80 0.061
537
c PND001 Pain Disorder 54 0.061
538
P INT068 Intestinal Disease 60 0.061
539
RSP006 Respiratory System Disease 58 0.061
540
P CRN211 Coronary Artery Disease 74 0.061
541
PRS047 Prostatitis 56 0.061
542
P ESP024 Esophagitis 61 0.061
543
URB001 Urbach-Wiethe Disease 49 0.061
544
HPT014 Hepatorenal Syndrome 46 0.061
545
SYN005 Synostosis 46 0.061
546
MNT189 Mental Retardation, X-Linked 29 and Others 21 0.060
547
ADJ001 Adjustment Disorder 38 0.060
548
SXL003 Sexual Disorder 42 0.060
549
PCK002 Pick Disease 68 0.059
550
SKL014 Skeletal Dysplasia 46 0.059
551
P MYC007 Myocardial Infarction 79 0.059
552
ACR041 Acromelic Frontonasal Dysostosis 45 0.059
553
LCK001 Locked-in Syndrome 38 0.058
554
CRC006 Carcinoid Syndrome 52 0.058
555
CLN019 Colonic Disease 51 0.058
556
SKL017 Skeletal Dysplasias 45 0.058
557
P MNN013 Meningitis 67 0.058
558
P GND004 Gonadal Dysgenesis 51 0.057
559
ART111 Artery Disease 55 0.057
560
P KDN018 Kidney Disease 66 0.057
561
P ALZ034 Alzheimer Disease 92 0.057
562
CHR103 Charge Syndrome 62 0.057
563
BND014 Bone Development Disease 40 0.057
564
P MCP010 Mucopolysaccharidosis 60 0.057
565
CST001 Costello Syndrome 68 0.057
566
c PLN017 Peeling Skin Syndrome 1 34 0.056
567
P DRR001 Diarrhea 60 0.056
568
P PLY019 Polyneuropathy 56 0.056
569
NRM005 Neuromuscular Disease 56 0.056
570
SPC003 Specific Developmental Disorder 38 0.056
571
FML039 Female Reproductive System Disease 48 0.056
572
AMN006 Aminoaciduria 40 0.056
573
P LGH007 Leigh Syndrome 70 0.056
574
P STR020 Strabismus 51 0.056
575
PLY023 Polycystic Liver Disease 56 0.056
576
P DYS154 Dystonia 65 0.056
577
CHD001 Chediak-Higashi Syndrome 64 0.055
578
TNP003 Tn Polyagglutination Syndrome, Somatic 41 0.055
579
CRY002 Cryptorchidism 60 0.055
580
BRN071 Brain Injury 52 0.055
581
DFC004 Deficiency Anemia 64 0.055
582
PRP027 Peripheral Vascular Disease 68 0.055
583
c ACT073 Acute Leukemia 60 0.055
584
MYC033 Myoclonus 42 0.055
585
P OVR042 Ovarian Cancer 76 0.055
586
PRN039 Paraneoplastic Syndromes 32 0.055
587
OBS002 Obsessive-Compulsive Disorder 66 0.055
588
P BRS047 Breast Cancer 100 0.055
589
BLM001 Bloom Syndrome 63 0.054
590
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.054
591
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.054
592
PRN038 Prune Belly Syndrome 45 0.054
593
P CTS012 Cutis Verticis Gyrata 19 0.054
594
P DRV001 Dravet Syndrome 69 0.054
595
P ALC004 Alcohol Abuse 59 0.054
596
CHR008 Choroiditis 44 0.054
597
P HRM001 Hermansky-Pudlak Syndrome 59 0.054
598
P HMR012 Hemorrhagic Fever 56 0.053
599
P CTS001 Cutis Laxa 58 0.053
600
BRN002 Bronchiolitis 56 0.053
601
DRM006 Dermatitis 66 0.053
602
P LCT001 Lactic Acidosis 51 0.053
603
P OVR049 Ovarian Disease 56 0.053
604
P NJM001 Nijmegen Breakage Syndrome 67 0.053
605
PHN003 Phenylketonuria 72 0.053
606
P CHR084 Chromosomal Disease 32 0.053
607
KRN002 Kearns-Sayre Syndrome 61 0.053
608
CCN007 Cocoon Syndrome 45 0.053
609
P HYP040 Hypospadias 57 0.053
610
P INF032 Infertility 59 0.053
611
BLD053 Blood Platelet Disease 46 0.053
612
PLC008 Placenta Disease 33 0.052
613
P MSC033 Muscle Disorders 52 0.052
614
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.052
615
P CRN178 Coronary Heart Disease 6 21 0.052
616
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 41 0.052
617
MTH009 Mouth Disease 61 0.052
618
ACR008 Acrocallosal Syndrome 52 0.052
619
FRY002 Fryns Syndrome 37 0.052
620
P KLP003 Klippel-Feil Syndrome 46 0.052
621
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.052
622
c BSL007 Basal Cell Carcinoma 65 0.051
623
TWN001 Twin-to-Twin Transfusion Syndrome 48 0.051
624
c CNG124 Congenital Rubella 44 0.051
625
HMR004 Hemorrhagic Fever with Renal Syndrome 58 0.051
626
MLK003 Melkersson-Rosenthal Syndrome 41 0.051
627
P TRC086 Trichohepatoenteric Syndrome 1 48 0.051
628
P DST002 Distal Arthrogryposis 56 0.051
629
P LPD010 Lipodystrophy 55 0.051
630
VSC007 Vascular Disease 67 0.051
631
SHW002 Shwachman-Diamond Syndrome 61 0.051
632
PRM097 Primary Immunodeficiency Disease 60 0.051
633
P GLM007 Glomerulonephritis 59 0.051
634
c LKM061 Leukemia, Acute Myeloid 73 0.051
635
P CLR023 Colorectal Cancer 97 0.050
636
ATN002 Autonomic Nervous System Disease 48 0.050
637
P LYM025 Lymphedema 61 0.050
638
CNS004 Constipation 57 0.050
639
BSL008 Basal Ganglia Disease 40 0.050
640
STR067 Stroke, Ischemic 75 0.050
641
P LVR013 Liver Disease 75 0.050
642
P RBL001 Rubella 57 0.050
643
SXD001 Sex Differentiation Disease 38 0.050
644
P OST002 Osteoporosis 64 0.050
645
JHN001 Johanson-Blizzard Syndrome 46 0.050
646
ALN001 Aland Island Eye Disease 45 0.050
647
MSC004 Muscle Tissue Disease 34 0.050
648
FNC005 Functional Colonic Disease 27 0.050
649
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.049
650
c MNT187 Mental Retardation, X-Linked 49 17 0.049
651
FBR019 Fibromatosis 43 0.049
652
P ECL001 Eclampsia 54 0.049
653
MGL003 Megalocornea 28 0.049
654
PLY024 Polymicrogyria 35 0.049
655
MBS002 Moebius Syndrome 47 0.049
656
HYP458 Hyper Ige Syndrome 42 0.049
657
DND001 Dandy-Walker Syndrome 44 0.049
658
BNS002 Bone Structure Disease 37 0.049
659
P HMN010 Hemangioma 59 0.049
660
PRP030 Purpura 58 0.049
661
CNN005 Connective Tissue Disease 62 0.048
662
P AST005 Asthma 82 0.048
663
FRG008 Fragile X-Associated Tremor/ataxia Syndrome 36 0.048
664
P LSS002 Lissencephaly 49 0.048
665
P TBR001 Tuberous Sclerosis 67 0.048
666
WTH001 Withdrawal Disorder 37 0.048
667
MYL031 Myeloproliferative Neoplasm 58 0.048
668
c CNG031 Congenital Nervous System Abnormality 37 0.048
669
ABL002 Ablepharon-Macrostomia Syndrome 57 0.048
670
BRN012 Bronchiolitis Obliterans 58 0.048
671
ART016 Aortic Aneurysm 69 0.047
672
P PRC019 Precocious Puberty 51 0.047
673
APH002 Aphasia 54 0.047
674
P HYP083 Hypopituitarism 54 0.047
675
P PRD008 Periodontitis 63 0.047
676
P ATX024 Ataxia-Oculomotor Apraxia 3 31 0.047
677
ART021 Arteriosclerosis 58 0.047
678
ALL026 Allergic Hypersensitivity Disease 52 0.047
679
P DBT005 Diabetes Insipidus 53 0.047
680
P LKM068 Leukemia, Chronic Myeloid, Somatic 68 0.047
681
P PNC001 Pancytopenia 52 0.047
682
P INF037 Inflammatory Bowel Disease 63 0.047
683
P LYM026 Lymphoblastic Leukemia 62 0.047
684
VSL002 Visual Epilepsy 31 0.047
685
CLT003 Colitis 60 0.047
686
GLB003 Globe Disease 32 0.047
687
CRD002 Cri-Du-Chat Syndrome 48 0.047
688
P INF038 Influenza 72 0.047
689
HMT002 Hematologic Cancer 64 0.047
690
P NRV007 Nervous System Disease 71 0.046
691
STF001 Stiff-Person Syndrome 56 0.046
692
P NRF002 Neurofibromatosis 71 0.046
693
P PRM019 Premature Ovarian Failure 64 0.046
694
P NTR004 Neutropenia 59 0.046
695
SPC005 Speech Disorder 41 0.046
696
c PRC016 Pre-Eclampsia 56 0.046
697
P KLL001 Kallmann Syndrome 61 0.046
698
GLC003 Glucose Intolerance 55 0.046
699
P WLF004 Wolfram Syndrome 61 0.046
700
IMG001 Image Syndrome 50 0.046
701
YLL001 Yellow Nail Syndrome 48 0.046
702
P ART023 Arthropathy 64 0.046
703
BDY001 Body Dysmorphic Disorder 39 0.046
704
P MTH007 Methemoglobinemia 45 0.045
705
RPR002 Reproductive System Disease 41 0.045
706
ARC002 Arachnoiditis 41 0.045
707
P GNG025 Gingival Fibromatosis 50 0.045
708
MLN008 Melanoma 62 0.045
709
TBR010 Tuberculosis 70 0.045
710
P CYS018 Cystitis 52 0.045
711
CTS005 Catastrophic Antiphospholipid Syndrome 42 0.045
712
P ADN016 Adenocarcinoma 69 0.045
713
CNG034 Congestive Heart Failure 72 0.045
714
PCH002 Pachygyria 39 0.045
715
WLK001 Walker-Warburg Syndrome 52 0.045
716
c MNT249 Mental Retardation, X-Linked 12/35 20 0.045
717
c ATM006 Autoimmune Lymphoproliferative Syndrome 71 0.045
718
SMT006 Somatoform Disorder 50 0.045
719
P HYP069 Hyperparathyroidism 58 0.044
720
OST015 Osteochondrodysplasia 52 0.044
721
CRP010 Corpus Callosum Agenesis 38 0.044
722
P PFF001 Pfeiffer Syndrome 73 0.044
723
APH001 Aphthous Stomatitis 62 0.044
724
SKN016 Skin Disease 66 0.044
725
P AMY004 Amyloidosis 65 0.044
726
LKC003 Leukocyte Disease 43 0.044
727
CRZ001 Crouzon Syndrome 70 0.044
728
ANG054 Angina Pectoris 50 0.044
729
CHR056 Chronic Tic Disorder 44 0.044
730
LNG099 Lung Disease 64 0.044
731
AMN001 Amenorrhea 50 0.043
732
P FRS003 Fraser Syndrome 56 0.043
733
RLN002 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia 25 0.043
734
SYN007 Synovitis 58 0.043
735
MYH012 Myhre Syndrome 38 0.043
736
HMP005 Hemiplegia 51 0.043
737
EYD002 Eye Disease 61 0.043
738
c MNT224 Mental Retardation, X-Linked 101 19 0.043
739
P ENC004 Encephalitis 63 0.043
740
GTL001 Gitelman Syndrome 61 0.043
741
P KLF001 Kleefstra Syndrome 41 0.043
742
ATN005 Autonomic Dysfunction 49 0.043
743
c HYP595 Hypertension, Essential 69 0.043
744
ALB002 Albinism 46 0.043
745
KRT004 Keratitis 71 0.043
746
P MTC069 Mitochondrial Disorders 53 0.042
747
PSD009 Pseudohermaphroditism 40 0.042
748
P LNG032 Lung Cancer 95 0.042
749
CLF027 Cleft Palate, Isolated 55 0.042
750
LPD004 Lipoid Nephrosis 48 0.042
751
TCD001 Tic Disorder 48 0.042
752
P MYP006 Myopia 56 0.042
753
c MNT218 Mental Retardation, X-Linked 99 16 0.042
754
P STH001 Saethre-Chotzen Syndrome 60 0.042
755
MTS001 Mutism 43 0.042
756
c MNT223 Mental Retardation, X-Linked 100 19 0.042
757
ISL003 Isolated Growth Hormone Deficiency 52 0.042
758
P URF003 Urofacial Syndrome 1 50 0.042
759
P HML002 Hemolytic Anemia 62 0.042
760
ARC007 Arachnoid Cysts 39 0.042
761
P CRB088 Cerebral Atrophy 42 0.042
762
P RSP003 Respiratory Failure 71 0.042
763
P KRT007 Keratoconus 48 0.042
764
GST092 Gastroesophageal Reflux 62 0.042
765
DNG001 Dengue Shock Syndrome 43 0.042
766
P TRT010 Teratoma 52 0.042
767
ACN002 Acanthosis Nigricans 57 0.042
768
CRS005 Crest Syndrome 51 0.042
769
BLS001 Blau Syndrome 57 0.041
770
CRB139 Cerebellar Ataxia, Nonprogressive, with Mental Retardation 22 0.041
771
GST045 Gastroenteritis 59 0.041
772
c HRD010 Hereditary Spastic Paraplegia 67 0.041
773
OPT006 Optic Nerve Disease 52 0.041
774
HYP064 Hypogonadotropism 37 0.041
775
HYP056 Hypoglycemia 61 0.041
776
ACR012 Aicardi Syndrome 46 0.041
777
TXC020 Toxic Oil Syndrome 39 0.041
778
c EHL032 Ehlers-Danlos Syndrome, Type Viib 49 0.041
779
YNG002 Young Syndrome 26 0.041
780
BHR002 Bohring-Opitz Syndrome 35 0.041
781
P ADM011 Adams-Oliver Syndrome 48 0.041
782
URT001 Urethritis 41 0.041
783
P APL001 Aplastic Anemia 75 0.041
784
FST001 Foster-Kennedy Syndrome 31 0.041
785
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.041
786
NNC002 Nance-Horan Syndrome 37 0.041
787
c MNT145 Mental Retardation, Autosomal Recessive 5 22 0.040
788
BRW006 Brown Syndrome 29 0.040
789
P DNR001 Duane Retraction Syndrome 41 0.040
790
CHR081 Choroideremia 54 0.040
791
P KBK002 Kabuki Syndrome 1 49 0.040
792
HMH002 Hemihypertrophy 41 0.040
793
c MNT267 Mental Retardation, X-Linked 104 15 0.040
794
RFR010 Refractory Anemia 45 0.040
795
CTS003 Coats Disease 57 0.040
796
P ATX010 Ataxia Neuropathy Spectrum 30 0.040
797
VND002 Van Der Woude Syndrome 50 0.040
798
QDR001 Quadriplegia 52 0.040
799
MRS004 Marshall-Smith Syndrome 40 0.040
800
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 36 0.040
801
P ESC003 Escobar Syndrome 59 0.040
802
DCH001 Duchenne Muscular Dystrophy 79 0.040
803
P LRY019 Laryngitis 54 0.040
804
CRB025 Carbohydrate Metabolic Disorder 46 0.040
805
HYP066 Hyperglycemia 61 0.040
806
OLG003 Oligohydramnios 53 0.040
807
P HLL001 Hallermann-Streiff Syndrome 53 0.040
808
c MNT144 Mental Retardation, Autosomal Dominant 6 22 0.039
809
CLB021 Coloboma, Ocular, with or Without Hearing Impairment, Cleft Lip/palate, and/or Mental Retardation 21 0.039
810
MNT118 Mental Retardation, Anterior Maxillary Protrusion, and Strabismus 14 0.039
811
PLG005 Plagiocephaly and X-Linked Mental Retardation 6 0.039
812
c CNG006 Congenital Hypothyroidism 60 0.039
813
CRB039 Cerebrovascular Disease 63 0.039
814
SKN023 Skin Tag 44 0.039
815
CCH002 Coach Syndrome 54 0.039
816
OST017 Osteomyelitis 61 0.039
817
P ATR011 Atrial Fibrillation 66 0.039
818
KRT001 Keratoconjunctivitis Sicca 59 0.039
819
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 36 0.039
820
CHR285 Chronic Myelomonocytic Leukemia 56 0.039
821
LND001 Landau-Kleffner Syndrome 35 0.039
822
END030 End Stage Renal Failure 55 0.039
823
TRM010 Traumatic Brain Injury 52 0.039
824
OHD004 Ohdo Syndrome 32 0.039
825
IMM136 Immune System Disease 51 0.039
826
SHL001 Shoulder Impingement Syndrome 42 0.039
827
ULC004 Ulcerative Colitis 76 0.039
828
P CRP007 Carpenter Syndrome 51 0.039
829
WLC001 Wolcott-Rallison Syndrome 40 0.039
830
DVL001 Developmental Coordination Disorder 36 0.039
831
P ATP001 Atopic Dermatitis 62 0.039
832
PTS001 Patau Syndrome 49 0.039
833
P MYL005 Myelofibrosis 67 0.039
834
HND003 Hand-Foot-Uterus Syndrome 50 0.038
835
c CNG223 Congenital Methemoglobinemia 28 0.038
836
MNT033 Mental Retardation X-Linked Dysmorphism 10 0.038
837
INC022 Inclusion-Cell Disease 46 0.038
838
P HYP087 Hypotrichosis 46 0.038
839
VLV042 Vulvar Vestibulitis Syndrome 40 0.038
840
c MNT198 Mental Retardation, X-Linked 98 25 0.038
841
STT001 Status Epilepticus 59 0.038
842
TWN003 Townes-Brocks Syndrome 53 0.038
843
c MNT271 Mental Retardation, X-Linked 61 13 0.038
844
c MNT274 Mental Retardation, X-Linked 105 12 0.038
845
P CRD013 Cardiofaciocutaneous Syndrome 63 0.038
846
RDS004 Rud Syndrome 14 0.038
847
URN009 Urinary System Disease 50 0.038
848
P TXP001 Toxoplasmosis 61 0.038
849
PRT036 Peritonitis 63 0.038
850
BCK006 Back Pain 43 0.038
851
P NRV006 Nervous System Cancer 60 0.038
852
OVR063 Overnutrition 50 0.038
853
c HRD026 Hereditary Ataxia 44 0.038
854
OMN001 Omenn Syndrome 67 0.038
855
P CNJ013 Conjunctivitis 64 0.038
856
ANT011 Antisocial Personality Disorder 47 0.038
857
P MRD002 Marden-Walker Syndrome 46 0.037
858
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 0.037
859
P MNT158 Mental Retardation, Autosomal Dominant 22 24 0.037
860
c MNT195 Mental Retardation, X-Linked 96 18 0.037
861
c MNT173 Mental Retardation, Autosomal Recessive 34 17 0.037
862
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 8 0.037
863
P HYP014 Hyperuricemia 50 0.037
864
SCH002 Schnitzler Syndrome 51 0.037
865
P DYS007 Dyskeratosis Congenita 63 0.037
866
P RTN016 Retinal Degeneration 54 0.037
867
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 46 0.037
868
GGN002 Gigantism 32 0.037
869
ACH005 Achalasia 52 0.037
870
GYN001 Gynecomastia 48 0.037
871
RNL007 Renal Tubular Acidosis 50 0.037
872
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.037
873
KRT006 Keratoconjunctivitis 52 0.037
874
P HMR003 Hemorrhagic Disease 57 0.037
875
ETH011 Ethylmalonic Encephalopathy 56 0.037
876
P CRB154 Cerebrocostomandibular Syndrome 36 0.037
877
MYL004 Myelodysplastic Myeloproliferative Cancer 45 0.037
878
CYS013 Cystinuria 63 0.037
879
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.037
880
SPS004 Spastic Quadriplegia 39 0.037
881
P ANR007 Anorexia Nervosa 61 0.037
882
P PSR002 Psoriasis 61 0.037
883
FDL002 Food Allergy 53 0.037
884
c ATS307 Autosomal Recessive Cerebellar Ataxia 30 0.036
885
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 39 0.036
886
P MDL005 Medulloblastoma 77 0.036
887
STR015 Stereotypic Movement Disorder 36 0.036
888
CLC006 Calcinosis 50 0.036
889
URT004 Urethral Syndrome 45 0.036
890
P XLN007 X-Linked Disease 34 0.036
891
LPR018 Leprechaunism 58 0.036
892
P ALX003 Alexander Disease 63 0.036
893
MCK007 Muckle-Wells Syndrome 61 0.036
894
CRH001 Crohn's Disease 75 0.036
895
P CHR562 Chronic Myelocytic Leukemia 41 0.036
896
MLR004 Malaria 83 0.036
897
c ORF040 Orofaciodigital Syndrome Viii 48 0.036
898
EMN001 Emanuel Syndrome 36 0.036
899
VSC002 Vascular Dementia 54 0.036
900
INT066 Interstitial Lung Disease 59 0.036
901
GLB001 Gilbert Syndrome 60 0.036
902
CYS001 Cystic Fibrosis 83 0.036
903
P AST007 Astrocytoma 65 0.036
904
3MS007 3-M Syndrome 1 43 0.036
905
APR006 Apert Syndrome 67 0.036
906
OST011 Osteomalacia 49 0.036
907
P MTC004 Mitochondrial Encephalomyopathy 42 0.036
908
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.036
909
P ORT004 Orthostatic Intolerance 64 0.036
910
P MSC003 Muscular Atrophy 50 0.036
911
JNT002 Joint Disorders 55 0.036
912
ARS001 Aarskog-Scott Syndrome 52 0.036
913
SCH063 Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic 53 0.036
914
P OST005 Osteogenesis Imperfecta 69 0.036
915
P NNN008 Noonan Syndrome 1 67 0.036
916
P BCL006 B-Cell Lymphomas 65 0.036
917
BSL036 Basal Cell Nevus Syndrome 65 0.036
918
LWS003 Lowe Syndrome 61 0.035
919
VND001 Vein Disease 47 0.035
920
c CRN173 Coronary Heart Disease 8 18 0.035
921
BRN028 Brain Cancer 70 0.035
922
RBS003 Rabson-Mendenhall Syndrome 55 0.035
923
P ENC011 Encephalomyopathy 37 0.035
924
P AGN002 Agnosia 57 0.035
925
THR004 Thrombocytosis 55 0.035
926
P RCK004 Rickets 61 0.035
927
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.035
928
LYM024 Lymphatic System Disease 52 0.035
929
P OCL002 Oculocutaneous Albinism 54 0.035
930
MCS002 Mucositis 55 0.035
931
P MRN003 Marinesco-Sjogren Syndrome 33 0.035
932
PRN009 Paranoid Schizophrenia 47 0.035
933
TTR001 Tetralogy of Fallot 71 0.035
934
P FML011 Familial Adenomatous Polyposis 68 0.035
935
CNN003 Conn's Syndrome 48 0.035
936
CHL123 Chlamydia 60 0.035
937
P CHR071 Charcot-Marie-Tooth Disease 67 0.035
938
P WRD001 Waardenburg's Syndrome 55 0.035
939
c CNT035 Central Nervous System Disease 60 0.035
940
c TRC078 Trichohepatoenteric Syndrome 2 29 0.035
941
SHP002 Shprintzen-Goldberg Syndrome 53 0.035
942
MGL001 Megaloblastic Anemia 50 0.035
943
P ENC008 Encephalocele 48 0.035
944
APR001 Apraxia 51 0.035
945
NPH003 Nephrocalcinosis 48 0.035
946
HYP391 Hyperammonemia 38 0.035
947
HDN002 Head Injury 45 0.035
948
NSD001 Nose Disease 48 0.035
949
OBS003 Obsessive-Compulsive Personality Disorder 36 0.035
950
PST095 Post-Thrombotic Syndrome 47 0.035
951
c DLT002 Dilated Cardiomyopathy 76 0.035
952
c CHR089 Chronic Kidney Failure 66 0.035
953
SPS050 Spasticity Mental Retardation 12 0.035
954
CTY001 Cat Eye Syndrome 43 0.035
955
GND001 Gonadoblastoma 41 0.035
956
P END033 Endocarditis 54 0.035
957
OTT002 Otitis Media 66 0.035
958
BRC012 Brucellosis 66 0.035
959
RHM027 Rheumatic Disease 58 0.035
960
BNR001 Bone Remodeling Disease 37 0.035
961
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.035
962
MNK003 Muenke Syndrome 60 0.035
963
P ADD001 Addison's Disease 62 0.035
964
MTB004 Metabolic Acidosis 48 0.035
965
P IDP010 Idiopathic Generalized Epilepsy 61 0.035
966
ATS010 Autosomal Recessive Disease 41 0.034
967
PRC013 Pericarditis 51 0.034
968
BRN045 Brunner Syndrome 46 0.034
969
EST005 Esotropia 41 0.034
970
HV1006 Hiv-1 80 0.034
971
HRP004 Herpes Zoster 56 0.034
972
DYS073 Dysphagia 48 0.034
973
BLD054 Blood Protein Disease 37 0.034
974
CNC002 Cinca Syndrome 55 0.034
975
IMP003 Impaired Renal Function Disease 34 0.034
976
MLT092 Multicentric Carpotarsal Osteolysis Syndrome 48 0.034
977
P BLD051 Blood Coagulation Disease 42 0.034
978
MYL001 Myelitis 51 0.034
979
SLV003 Salivary Gland Disease 47 0.034
980
MYT011 Myotonia 36 0.034
981
RTN017 Retinal Detachment 56 0.034
982
P GRS003 Griscelli Syndrome 51 0.034
983
MLT021 Multiple System Atrophy 70 0.034
984
ADL030 Adult-Onset Still's Disease 59 0.034
985
PLM010 Pulmonary Edema 54 0.034
986
STR008 Strongyloidiasis 51 0.034
987
MCR098 Microcephaly, Cortical Malformations, and Mental Retardation 13 0.034
988
CRT012 Cortical Blindness 35 0.034
989
P AND016 Andersen Syndrome 58 0.034
990
CLL003 Cellulitis 51 0.034
991
NRN004 Neuroendocrine Tumor 56 0.034
992
P OST012 Osteoarthritis 83 0.034
993
CRY008 Cryopyrin-Associated Periodic Syndrome 34 0.034
994
STR079 Sturge-Weber Syndrome, Somatic, Mosaic 42 0.034
995
P RNL015 Renal Hypertension 48 0.034
996
P OST028 Osteochondroma 47 0.034
997
ATR060 Atrial Standstill, Digenic 51 0.034
998
CHL061 Childhood Leukemia 49 0.034
999
BRK001 Brooke-Spiegler Syndrome 48 0.034
1000
TTH006 Tooth Disease 52 0.033
1001
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 49 0.033
1002
ERY003 Erythema Multiforme 55 0.033
1003
CNG065 Congenital Contractures 29 0.033
1004
c TYR013 Tyrosinemia, Type Ii 46 0.033
1005
GST033 Gestational Diabetes 57 0.033
1006
MTR007 Motor Peripheral Neuropathy 37 0.033
1007
P VNT002 Ventricular Septal Defect 60 0.033
1008
P STS008 Sotos Syndrome 1 51 0.033
1009
INT051 Intussusception 50 0.033
1010
P OST001 Osteopetrosis 63 0.033
1011
VSC008 Vascular Hemostatic Disease 30 0.033
1012
P KNN002 Kenny-Caffey Syndrome 41 0.033
1013
P GLM045 Glioma 60 0.033
1014
PLY012 Polyhydramnios 47 0.033
1015
PTT041 Pituitary Stalk Interruption Syndrome 42 0.033
1016
MXD005 Mixed Connective Tissue Disease 62 0.033
1017
c MNT242 Mental Retardation, Autosomal Dominant 40 20 0.033
1018
c MNT243 Mental Retardation, Autosomal Recessive 50 15 0.033
1019
LPM005 Lipomatosis 47 0.033
1020
EPD016 Epidermolysis Bullosa 57 0.033
1021
LBN003 Lubinsky Syndrome 13 0.033
1022
OPP004 Oppositional Defiant Disorder 43 0.033
1023
P CRB059 Cerebellar Degeneration 34 0.033
1024
CHR078 Chorioretinitis 40 0.033
1025
P ZMM001 Zimmermann-Laband Syndrome 26 0.033
1026
LYM040 Lymphoblastic Lymphoma 53 0.033
1027
PTC001 Potocki-Shaffer Syndrome 36 0.033
1028
MGK001 Megakaryocytic Leukemia 55 0.033
1029
STP004 Staphylococcal Toxic Shock Syndrome 41 0.033
1030
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 27 0.033
1031
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27 0.033
1032
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 27 0.033
1033
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 25 0.033
1034
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 24 0.033
1035
c MSC107 Muscular Dystrophy-Dystroglycanopathy , Type a, 10 24 0.033
1036
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 23 0.033
1037
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 44 0.033
1038
LRN004 Laron Dwarfism 58 0.033
1039
PRM025 Primary Bacterial Infectious Disease 41 0.033
1040
ACR017 Acrofacial Dysostosis 22 0.033
1041
P PSD015 Pseudohypoparathyroidism 46 0.033
1042
c CHR020 Chronic Interstitial Cystitis 41 0.033
1043
c ART101 Aortic Valve Disease 2 53 0.033
1044
RDL002 Radioulnar Synostosis 44 0.033
1045
LPM004 Lipoma 60 0.032
1046
HYP017 Hypophosphatemia 43 0.032
1047
PLM033 Pulmonary Embolism 60 0.032
1048
HYP005 Hypokalemia 51 0.032
1049
ANT003 Antley-Bixler Syndrome 48 0.032
1050
P MYC026 Myoclonus Epilepsy 34 0.032
1051
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 40 0.032
1052
AMB001 Amebiasis 43 0.032
1053
P HLP001 Holoprosencephaly 63 0.032
1054
BRW001 Brown-Vialetto-Van Laere Syndrome 30 0.032
1055
c SCK009 Seckel Syndrome 1 40 0.032
1056
MRB003 Morbid Obesity 58 0.032
1057
P LSS027 Lissencephaly, X-Linked 41 0.032
1058
CNJ012 Conjunctival Disease 44 0.032
1059
GST050 Gastrointestinal System Disease 56 0.032
1060
ENG004 Engraftment Syndrome 32 0.032
1061
HRT030 Hartsfield Syndrome 30 0.032
1062
SPS019 Spastic Paraparesis 41 0.032
1063
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 33 0.032
1064
DSS009 Disseminated Intravascular Coagulation 51 0.032
1065
P ACT135 Acute Graft Versus Host Disease 53 0.032
1066
ASP003 Aseptic Meningitis 51 0.032
1067
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 38 0.032
1068
ANV001 Anovulation 44 0.032
1069
ATM012 Autoimmune Disease of Blood 35 0.032
1070
GLC006 Galactosemia 64 0.032
1071
P LKD001 Leukodystrophy 59 0.032
1072
P OCY001 Oocyte Maturation Defect 38 0.032
1073
SPL040 Split Hand 36 0.032
1074
EYC003 Eye Accommodation Disease 24 0.032
1075
MRC001 Marchiafava Bignami Disease 39 0.032
1076
P RHN004 Rhinitis 60 0.032
1077
WDS002 Woods Syndrome 27 0.032
1078
P APL006 Aplasia Cutis Congenita 52 0.032
1079
MCR021 Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 32 0.032
1080
ATP002 Atopy 66 0.032
1081
LYM023 Lymphatic System Cancer 33 0.032
1082
AMB002 Amblyopia 46 0.032
1083
c EHL033 Ehlers-Danlos Syndrome, Classic Type 55 0.032