Search results for generalized epilepsy

1990 hits were found for generalized epilepsy

# Family MCID Name MIFTS Score
1
c EPL100 Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 47 5.710
2
P IDP010 Idiopathic Generalized Epilepsy 58 4.400
3
PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 19 4.045
4
c EPL084 Epilepsy, Idiopathic Generalized 11 23 3.823
5
c EPL086 Epilepsy, Idiopathic Generalized 9 24 3.605
6
c EPL142 Epilepsy Idiopathic Generalized 8 19 3.503
7
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 40 3.383
8
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61 3.333
9
c EPL067 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 30 3.235
10
c EPL041 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 25 3.226
11
c EPL120 Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 35 3.223
12
c FBR082 Febrile Seizures, Familial, 3b 26 3.219
13
c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 21 3.212
14
c EPL137 Epilepsy, Childhood Absence 6 22 3.205
15
c EPL098 Epilepsy, Idiopathic Generalized 12 24 2.885
16
c EPL094 Epilepsy, Juvenile Myoclonic 5 21 2.852
17
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 34 2.819
18
c EPL165 Epilepsy, Idiopathic Generalized 14 18 2.500
19
c EPL093 Epilepsy, Idiopathic Generalized 7 15 2.482
20
GNT046 Genetic Epilepsy with Febrile Seizures Plus 21 2.332
21
SCN011 Scn1a- Related Generalized Epilepsy with Febrile Seizures Plus 8 2.090
22
c EPL091 Epilepsy, Idiopathic Generalized 3 18 2.065
23
c EPL092 Epilepsy, Idiopathic Generalized 2 13 2.054
24
c EPL090 Epilepsy, Idiopathic Generalized 5 13 2.045
25
c STX002 Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus 7 2.034
26
c SCN026 Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus 9 2.027
27
SCN012 Scn1a-Related Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 4 2.027
28
BNG063 Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy 3 1.452
29
c GBR002 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus 7 1.451
30
c GBR005 Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus 7 1.451
31
c SCN018 Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus 7 1.451
32
P LPR002 Leopard Syndrome 54 1.432
33
P EPL164 Epilepsy 65 0.987
34
TMP001 Temporal Lobe Epilepsy 50 0.333
35
FCL014 Focal Epilepsy 55 0.303
36
P SZR006 Seizure Disorder 54 0.265
37
c CNT035 Central Nervous System Disease 60 0.258
38
P NRV007 Nervous System Disease 70 0.255
39
ANX002 Anxiety Disorder 66 0.228
40
MYC033 Myoclonus 41 0.219
41
P MYC026 Myoclonus Epilepsy 32 0.197
42
GNR004 Generalized Anxiety Disorder 49 0.192
43
NRN002 Neuronitis 39 0.184
44
P FBR031 Febrile Seizures 49 0.177
45
P CHL002 Childhood Absence Epilepsy 54 0.169
46
c PRG011 Progressive Myoclonus Epilepsy 37 0.157
47
CRB009 Cerebritis 39 0.136
48
PHT008 Photosensitive Epilepsy 34 0.128
49
P INT063 Intellectual Disability 58 0.126
50
RFL002 Reflex Epilepsy 26 0.123
51
P ATX004 Ataxia 52 0.119
52
STT001 Status Epilepticus 58 0.118
53
MNT002 Mental Depression 52 0.114
54
DRG001 Drug Psychosis 41 0.107
55
P TBR001 Tuberous Sclerosis 67 0.105
56
P PSR002 Psoriasis 64 0.103
57
PSY004 Psychotic Disorder 67 0.103
58
P OBS005 Obesity 91 0.103
59
P MYC023 Myoclonic Astatic Epilepsy 26 0.101
60
P PST059 Pustular Psoriasis 36 0.100
61
CMP006 Complex Partial Epilepsy 29 0.099
62
BNG009 Benign Epilepsy with Centrotemporal Spikes 40 0.099
63
P DYS154 Dystonia 61 0.097
64
P LKM002 Leukemia 72 0.096
65
P ENC004 Encephalitis 61 0.094
66
ALR002 Al-Raqad Syndrome 29 0.094
67
P MYC068 Myoclonic Epilepsy of Infancy 38 0.093
68
LNN001 Lennox-Gastaut Syndrome 57 0.092
69
P ENC018 Encephalopathy 52 0.091
70
P PRD008 Periodontitis 46 0.090
71
DMN002 Dementia 52 0.089
72
P LPD010 Lipodystrophy 53 0.088
73
HMP005 Hemiplegia 50 0.088
74
P SCH015 Schizophrenia 71 0.087
75
P JVN007 Juvenile Absence Epilepsy 43 0.087
76
CND002 Conduct Disorder 53 0.085
77
VSL002 Visual Epilepsy 33 0.085
78
MDD011 Mood Disorder 59 0.084
79
END072 Endotheliitis 41 0.083
80
P HPT021 Hepatitis 68 0.083
81
P SPS003 Spastic Diplegia 52 0.083
82
P THY032 Thyroiditis 53 0.082
83
BRT030 Birth Defects 44 0.082
84
PHY002 Physical Disorder 43 0.081
85
c CNG012 Congenital Generalized Lipodystrophy 43 0.081
86
ERL001 Early Myoclonic Encephalopathy 44 0.079
87
P MSC005 Muscular Dystrophy 65 0.078
88
ISC004 Ischemia 59 0.077
89
AND005 Androgen Insensitivity Syndrome, Mild 16 0.077
90
CHL071 Child Syndrome 59 0.077
91
KDS001 Kid Syndrome 57 0.077
92
P HYP729 Hypersensitivity Reaction Disease 43 0.077
93
LRN003 Learning Disability 46 0.077
94
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 38 0.076
95
PRP019 Peripheral Nervous System Disease 53 0.076
96
P HRT032 Heart Disease 75 0.075
97
PCK002 Pick Disease 68 0.074
98
HDC001 Headache 53 0.074
99
WST001 West Syndrome 58 0.073
100
PLY024 Polymicrogyria 36 0.071
101
c EPL070 Epilepsy, Progressive Myoclonic 2b 48 0.070
102
FBR064 Febrile Infection-Related Epilepsy Syndrome 28 0.070
103
P BRS047 Breast Cancer 100 0.070
104
EPL131 Epilepsy, Pyridoxine-Dependent 34 0.069
105
RTN023 Retinitis 49 0.069
106
P MYP004 Myopathy 68 0.068
107
ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 14 0.068
108
P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 33 0.067
109
DSS008 Disease of Mental Health 53 0.067
110
ATH003 Atherosclerosis 65 0.067
111
P PNC025 Panic Disorder 58 0.067
112
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 42 0.066
113
ADL002 Adult Syndrome 57 0.066
114
SPS057 Spasticity 42 0.066
115
GNG013 Gingivitis 61 0.066
116
P GLM045 Glioma 59 0.066
117
HPT074 Hepatic Adenoma, Somatic 44 0.065
118
P TRM003 Tremor 53 0.065
119
SLP005 Sleep Disorder 54 0.065
120
APH002 Aphasia 55 0.065
121
NLL002 Null Syndrome 26 0.065
122
P AST005 Asthma 81 0.064
123
EPL095 Epilepsy with Myoclonic Absences 15 0.064
124
ATT013 Attention Deficit-Hyperactivity Disorder 66 0.064
125
MSC004 Muscle Tissue Disease 37 0.064
126
SCL003 Social Phobia 46 0.063
127
UNV001 Unverricht-Lundborg Syndrome 41 0.063
128
c EPL121 Epilepsy, Progressive Myoclonic 1a 34 0.062
129
P LYM118 Lymphoma 69 0.062
130
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 27 0.061
131
P NRP001 Neuropathy 57 0.061
132
SKN016 Skin Disease 64 0.061
133
P BNG006 Benign Familial Neonatal Epilepsy 33 0.061
134
c EPL133 Epilepsy, Juvenile Absence 1 27 0.061
135
P MSC033 Muscle Disorders 52 0.061
136
MTH009 Mouth Disease 62 0.060
137
P PRS038 Personality Disorder 61 0.060
138
P ART022 Arthritis 72 0.060
139
P CRD011 Cardiomyopathy 67 0.060
140
HDN002 Head Injury 44 0.060
141
P ANG001 Angelman Syndrome 62 0.060
142
RSP006 Respiratory System Disease 60 0.059
143
c BNG079 Benign Adult Familial Myoclonic Epilepsy 28 0.059
144
ANR040 Aneurysm 57 0.059
145
VSC007 Vascular Disease 65 0.059
146
P MCR010 Microcephaly 58 0.058
147
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.058
148
P LPS004 Lupus Erythematosus 63 0.058
149
EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 41 0.058
150
P CRB042 Cerebellar Ataxia 69 0.058
151
P CRN211 Coronary Artery Disease 73 0.058
152
BRN071 Brain Injury 50 0.057
153
HNM002 Hinman Syndrome 27 0.057
154
ADG002 Audiogenic Seizures 23 0.057
155
TTN003 Tetanus 60 0.057
156
P MYC007 Myocardial Infarction 77 0.057
157
P PNC044 Pancreatitis 60 0.057
158
FBR019 Fibromatosis 43 0.057
159
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 27 0.056
160
ADR009 Adrenal Cortex Disease 39 0.056
161
BNS002 Bone Structure Disease 36 0.056
162
P HYP265 Hypotonia 39 0.055
163
HYP266 Hypoxia 55 0.055
164
PRS047 Prostatitis 55 0.055
165
HV1006 Hiv-1 80 0.055
166
P ATS007 Autism Spectrum Disorder 65 0.054
167
P RTT002 Rett Syndrome 82 0.054
168
WBR001 Weber Syndrome 36 0.054
169
ART111 Artery Disease 55 0.054
170
c MYC048 Myoclonic Epilepsy, Infantile, Familial 27 0.054
171
EPL114 Epilepsy, Familial Temporal Lobe, 1 39 0.054
172
WTH001 Withdrawal Disorder 40 0.054
173
HYP077 Hypertrichosis 48 0.053
174
OBS002 Obsessive-Compulsive Disorder 64 0.053
175
c EPL148 Epilepsy, Myoclonic, Familial Adult, 2 26 0.053
176
LND001 Landau-Kleffner Syndrome 34 0.053
177
P CTR002 Cataract 57 0.053
178
MVM001 Movement Disease 52 0.052
179
c PND001 Pain Disorder 55 0.052
180
P BPL003 Bipolar Disorder 60 0.052
181
RPR002 Reproductive System Disease 43 0.052
182
c EPL132 Epilepsy, Childhood Absence 2 24 0.052
183
EPL115 Epilepsy, Familial Temporal Lobe, 2 26 0.052
184
ISC006 Ischemic Heart Disease 53 0.052
185
c SYS001 Systemic Lupus Erythematosus 86 0.052
186
MLR004 Malaria 82 0.052
187
ADJ001 Adjustment Disorder 38 0.052
188
ONC002 Onchocerciasis 48 0.051
189
P HRP006 Herpes Simplex 62 0.051
190
P LNG028 Long Qt Syndrome 64 0.051
191
ATN002 Autonomic Nervous System Disease 48 0.051
192
DRM006 Dermatitis 63 0.051
193
P INF038 Influenza 71 0.051
194
GNG004 Ganglioglioma 49 0.051
195
ACQ007 Acquired Immunodeficiency Syndrome 60 0.051
196
SKN027 Skin Conditions 44 0.051
197
c BNG023 Benign Familial Infantile Epilepsy 40 0.051
198
PRT004 Partial Sensory Epilepsy 10 0.051
199
PNG002 Pain Agnosia 39 0.051
200
P INT068 Intestinal Disease 59 0.050
201
ART021 Arteriosclerosis 57 0.050
202
LMB024 Limbic Encephalitis 37 0.050
203
CNT069 Centrotemporal Epilepsy 19 0.050
204
c MYC070 Myoclonic Epilepsy, Juvenile 1 25 0.050
205
P MTC069 Mitochondrial Disorders 55 0.050
206
P MSC003 Muscular Atrophy 49 0.050
207
SYN036 Syncope 44 0.050
208
ART035 Arterial Calcification of Infancy 38 0.050
209
CYS005 Cysticercosis 52 0.049
210
HYP066 Hyperglycemia 59 0.049
211
RHM027 Rheumatic Disease 57 0.049
212
P SPN046 Spinal Muscular Atrophy 63 0.049
213
P MYL006 Myeloid Leukemia 64 0.049
214
TRM010 Traumatic Brain Injury 51 0.048
215
KHL003 Kohlschutter-Tonz Syndrome 42 0.048
216
P NRV006 Nervous System Cancer 59 0.048
217
CRB039 Cerebrovascular Disease 63 0.048
218
VND001 Vein Disease 49 0.048
219
P PRS040 Prostate Cancer 88 0.047
220
P PNM007 Pneumonia 66 0.047
221
PRT036 Peritonitis 60 0.047
222
NRM005 Neuromuscular Disease 55 0.047
223
P EPS003 Episodic Ataxia 54 0.047
224
P ATR011 Atrial Fibrillation 65 0.047
225
P MNN013 Meningitis 65 0.047
226
PRP016 Paraplegia 48 0.047
227
ATX038 Ataxia and Polyneuropathy, Adult-Onset 25 0.046
228
P EXN002 Exanthem 57 0.046
229
P ICH004 Ichthyosis 53 0.046
230
ATN005 Autonomic Dysfunction 45 0.046
231
P RHM011 Rheumatoid Arthritis 87 0.046
232
GLC008 Glucose Metabolism Disease 44 0.046
233
c EPL155 Epilepsy, Progressive Myoclonic, 8 23 0.046
234
CSY001 C Syndrome 53 0.046
235
JVN026 Jeavons Syndrome 14 0.046
236
HYP056 Hypoglycemia 60 0.046
237
VRL011 Viral Infectious Disease 59 0.046
238
PRV006 Pervasive Developmental Disorder 50 0.045
239
P ENC008 Encephalocele 48 0.045
240
c EPL134 Epilepsy, Progressive Myoclonic 7 24 0.045
241
P ECL001 Eclampsia 51 0.045
242
GST050 Gastrointestinal System Disease 53 0.045
243
P PRP029 Porphyria 59 0.045
244
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 0.045
245
P BNG026 Benign Neonatal Seizures 38 0.045
246
MLG120 Malignant Migrating Partial Seizures of Infancy 36 0.045
247
MYC071 Myoclonic-Atonic Epilepsy 22 0.045
248
MYC069 Myoclonic-Astastic Epilepsy 21 0.045
249
P SLP006 Sleep Apnea 60 0.044
250
SPC003 Specific Developmental Disorder 38 0.044
251
SPC005 Speech Disorder 41 0.044
252
EPL071 Epilepsy, Nocturnal Frontal Lobe, Type 4 23 0.044
253
HMM003 Hemimegalencephaly 44 0.044
254
P ALZ034 Alzheimer Disease 76 0.044
255
P INF032 Infertility 57 0.044
256
PST028 Post-Traumatic Stress Disorder 55 0.044
257
P KDN018 Kidney Disease 65 0.044
258
IMM136 Immune System Disease 53 0.044
259
HMN014 Human Immunodeficiency Virus Infectious Disease 45 0.044
260
CRB037 Cerebral Palsy 54 0.044
261
BLD054 Blood Protein Disease 39 0.043
262
P AST007 Astrocytoma 63 0.043
263
P HYP024 Hypoparathyroidism 52 0.043
264
FCL011 Facial Nerve Disease 35 0.043
265
EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 26 0.043
266
DWN001 Down Syndrome 69 0.043
267
P CLC005 Celiac Disease 69 0.043
268
c EPL145 Epilepsy, Progressive Myoclonic 6 28 0.043
269
CRT037 Cortical Dysplasia-Focal Epilepsy Syndrome 28 0.043
270
EPL108 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 26 0.043
271
EPL128 Epilepsy, Familial Temporal Lobe, 3 25 0.043
272
INS001 Insulinoma 60 0.043
273
P ALC004 Alcohol Abuse 57 0.042
274
c PSR021 Psoriasis 14, Pustular 38 0.042
275
INS024 Insulin-Like Growth Factor I 75 0.042
276
P OST002 Osteoporosis 63 0.042
277
P FRG001 Fragile X Syndrome 67 0.042
278
c EPL147 Epilepsy, Myoclonic, Familial Adult, 5 21 0.042
279
GST045 Gastroenteritis 57 0.042
280
c TRC078 Trichohepatoenteric Syndrome 2 34 0.042
281
MTC057 Mitochondrial Recessive Ataxia Syndrome 50 0.042
282
P LCT001 Lactic Acidosis 50 0.042
283
P CTS001 Cutis Laxa 60 0.042
284
URN009 Urinary System Disease 49 0.042
285
PHR003 Pharyngitis 53 0.042
286
SKN023 Skin Tag 46 0.041
287
BLD053 Blood Platelet Disease 46 0.041
288
P NRC002 Narcolepsy 62 0.041
289
ALX002 Alexithymia 37 0.041
290
P GNG025 Gingival Fibromatosis 51 0.041
291
SPN369 Spinal Disease 38 0.041
292
SMP001 Simple Partial Epilepsy 12 0.041
293
P HMP006 Hemiplegic Migraine 44 0.041
294
P GLB002 Glioblastoma 66 0.040
295
SXL003 Sexual Disorder 42 0.040
296
ALC007 Alcohol Dependence 62 0.040
297
ALP008 Alopecia 54 0.040
298
c SZR014 Seizures, Benign Familial Infantile, 1 23 0.040
299
c EPL154 Epilepsy, Progressive Myoclonic, 9 21 0.040
300
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 34 0.040
301
P MYS003 Myasthenia Gravis 67 0.040
302
P DRR001 Diarrhea 59 0.040
303
VSC011 Vasculitis 62 0.040
304
P SCH018 Schizencephaly 52 0.039
305
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 30 0.039
306
EPL150 Epilepsy, Familial Temporal Lobe, 7 18 0.039
307
P HMP007 Hemophilia 55 0.039
308
CTS003 Coats Disease 58 0.039
309
P MYT002 Myotonic Dystrophy 48 0.039
310
c CNG031 Congenital Nervous System Abnormality 39 0.039
311
c EPL188 Epilepsy, Progressive Myoclonic, 10 23 0.039
312
P RTN008 Retinitis Pigmentosa 80 0.039
313
PRD007 Periodontal Disease 42 0.039
314
BRN028 Brain Cancer 67 0.039
315
WLL006 Wells Syndrome 58 0.039
316
P PLN008 Peeling Skin Syndrome 49 0.039
317
PRP021 Peripheral Nervous System Neoplasm 48 0.039
318
c SCN015 Scn1a-Related Severe Myoclonic Epilepsy in Infancy 13 0.039
319
HYP080 Hypogonadism 52 0.039
320
P PRC019 Precocious Puberty 50 0.039
321
P THR014 Thrombocytopenia 63 0.039
322
BNF002 Bone Fracture 51 0.039
323
P CLL015 Collagen Disease 50 0.039
324
P LYM026 Lymphoblastic Leukemia 60 0.038
325
c ACT075 Acute Myocardial Infarction 59 0.038
326
BCK006 Back Pain 41 0.038
327
PRS123 Persistent Generalized Lymphadenopathy 31 0.038
328
c FBR072 Febrile Seizures, Familial, 11 24 0.038
329
c HRD010 Hereditary Spastic Paraplegia 66 0.038
330
OBS061 Obstructive Sleep Apnea 65 0.038
331
P HYP086 Hypothyroidism 60 0.038
332
P LSS002 Lissencephaly 48 0.038
333
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 39 0.038
334
c SZR008 Seizures, Benign Neonatal, 1 34 0.038
335
DWR001 Dwarfism 45 0.037
336
HYP043 Hyperandrogenism 46 0.037
337
CRB045 Cerebellar Hypoplasia 50 0.037
338
PRM008 Parametritis 27 0.037
339
c EPL136 Epilepsy, Childhood Absence 5 20 0.037
340
P RSP003 Respiratory Failure 68 0.037
341
P HYP083 Hypopituitarism 54 0.037
342
APR001 Apraxia 49 0.037
343
CRD119 Cardiac Arrest 59 0.037
344
ETN001 Eating Disorder 56 0.037
345
HYP037 Hyperhomocysteinemia 49 0.037
346
MYT011 Myotonia 40 0.037
347
BRN080 Brain Ischemia 40 0.037
348
PCH002 Pachygyria 37 0.037
349
VGS001 Vagus Nerve Disease 18 0.037
350
ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 17 0.037
351
GM3001 Gm3 Synthase Deficiency 16 0.037
352
P EHL001 Ehlers-Danlos Syndrome 61 0.036
353
LPD008 Lipid Metabolism Disorder 57 0.036
354
PMP001 Pemphigus 49 0.036
355
CNG034 Congestive Heart Failure 70 0.036
356
BLL006 Bullous Pemphigoid 59 0.036
357
c CRN172 Coronary Heart Disease 3 20 0.036
358
P NRF018 Neurofibromatosis, Type 1 78 0.036
359
BCK001 Becker Muscular Dystrophy 71 0.036
360
PLM010 Pulmonary Edema 52 0.036
361
ATS001 Autistic Disorder 63 0.036
362
PRV004 Periventricular Leukomalacia 48 0.036
363
P HYP263 Hypersomnia 40 0.036
364
P NRN021 Neuronal Ceroid Lipofuscinosis 61 0.036
365
P TXP001 Toxoplasmosis 60 0.036
366
P MWT001 Mowat-Wilson Syndrome 48 0.036
367
SLT014 Salt and Pepper Developmental Regression Syndrome 33 0.036
368
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 41 0.036
369
ARC002 Arachnoiditis 41 0.036
370
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36 0.036
371
EPL152 Epilepsy, Familial Temporal Lobe, 8 13 0.036
372
P LKD001 Leukodystrophy 56 0.036
373
DRG003 Drug Dependence 48 0.036
374
P LVR013 Liver Disease 72 0.036
375
P SYP003 Syphilis 51 0.036
376
GDS001 Good Syndrome 46 0.036
377
FML039 Female Reproductive System Disease 46 0.036
378
URB001 Urbach-Wiethe Disease 50 0.036
379
P GNR027 Generalized Peeling Skin Syndrome 22 0.035
380
DCH001 Duchenne Muscular Dystrophy 79 0.035
381
PHN003 Phenylketonuria 72 0.035
382
P DYS021 Dysautonomia 45 0.035
383
P CRB088 Cerebral Atrophy 39 0.035
384
RDN001 Reading Disorder 36 0.035
385
P AMY004 Amyloidosis 64 0.035
386
AGR002 Agoraphobia 43 0.035
387
EPL113 Epilepsy, Familial Temporal Lobe, 4 17 0.035
388
BNG081 Benign Childhood Occipital Epilepsy, Panayiotopoulos Type 9 0.035
389
MGL013 Megalencephaly 53 0.035
390
P GLM007 Glomerulonephritis 55 0.035
391
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 55 0.035
392
PRM025 Primary Bacterial Infectious Disease 42 0.035
393
P INF037 Inflammatory Bowel Disease 62 0.035
394
ADN018 Adenoma 58 0.035
395
CNS004 Constipation 56 0.035
396
BRN106 Burns 52 0.035
397
ANG054 Angina Pectoris 49 0.035
398
SCH012 Schizoaffective Disorder 48 0.035
399
CRN017 Coronary Thrombosis 47 0.035
400
P ENC011 Encephalomyopathy 37 0.034
401
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 30 0.034
402
GLT032 Glut1 Deficiency Syndrome 2, Childhood Onset 30 0.034
403
EPL074 Epilepsy, Hot Water, 1 10 0.034
404
MNK001 Menkes Disease 63 0.034
405
TRN012 Transient Global Amnesia 39 0.034
406
P PHT010 Photoparoxysmal Response 1 26 0.034
407
P PRD006 Prader-Willi Syndrome 65 0.034
408
EXF001 Exfoliation Syndrome 57 0.034
409
P ANT006 Antiphospholipid Syndrome 54 0.034
410
OPT006 Optic Nerve Disease 49 0.034
411
P ESP024 Esophagitis 59 0.034
412
RST001 Restless Legs Syndrome 52 0.034
413
LKC003 Leukocyte Disease 46 0.034
414
P SNS014 Sinusitis 59 0.034
415
MLR007 Male Reproductive System Disease 36 0.034
416
ATM053 Autoimmune Disease 2 18 0.034
417
P NMN002 Niemann-Pick Disease 66 0.034
418
P HYD006 Hydrocephalus 66 0.034
419
P BRG001 Brugada Syndrome 59 0.034
420
P DBT083 Diabetes Mellitus, Permanent Neonatal 56 0.034
421
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32 0.034
422
ARC007 Arachnoid Cysts 38 0.034
423
THN007 Thinking Seizures 11 0.034
424
P HYP117 Hypertriglyceridemia 61 0.033
425
P PLY006 Polydactyly 54 0.033
426
THY030 Thyroid Gland Disease 49 0.033
427
P GRV001 Graves' Disease 57 0.033
428
P RTN016 Retinal Degeneration 53 0.033
429
CRB025 Carbohydrate Metabolic Disorder 47 0.033
430
NSY001 N Syndrome 44 0.033
431
XNT003 Xanthomatosis 46 0.033
432
FNT004 Fainting 33 0.033
433
CRT012 Cortical Blindness 32 0.033
434
P ATX010 Ataxia Neuropathy Spectrum 27 0.033
435
GND003 Gonadal Disease 40 0.033
436
c HMP029 Hemophilia a 64 0.033
437
P ATP001 Atopic Dermatitis 60 0.033
438
ANX004 Anoxia 44 0.033
439
P BLD051 Blood Coagulation Disease 43 0.033
440
P HYP069 Hyperparathyroidism 56 0.033
441
P LTR001 Lateral Sclerosis 53 0.033
442
SSM001 Sesame Syndrome 54 0.033
443
CMR002 Coumarin Resistance 50 0.033
444
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44 0.033
445
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41 0.033
446
ACC001 Accessory Nerve Disease 21 0.033
447
PRT037 Pertussis 63 0.032
448
c ACT027 Acute Pancreatitis 56 0.032
449
PRT014 Protein S Deficiency 51 0.032
450
TTH006 Tooth Disease 51 0.032
451
END040 Endogenous Depression 48 0.032
452
NRS003 Neurosyphilis 41 0.032
453
MGL001 Megaloblastic Anemia 49 0.032
454
TXC011 Toxocariasis 38 0.032
455
TNS007 Taeniasis 37 0.032
456
MDN008 Median Arcuate Ligament Syndrome 28 0.032
457
XLN215 X-Linked Congenital Generalized Hypertrichosis 15 0.032
458
c FML023 Familial Hemiplegic Migraine 50 0.032
459
c EPL144 Epilepsy, Progressive Myoclonic 1b 21 0.032
460
ECH003 Echinococcosis 52 0.032
461
PST021 Postpartum Depression 48 0.032
462
P AML002 Amelogenesis Imperfecta 44 0.032
463
c FBR069 Febrile Seizures, Familial, 4 22 0.032
464
P STR020 Strabismus 52 0.032
465
SBS004 Substance Dependence 49 0.032
466
DNT012 Dental Caries 46 0.032
467
P HLP001 Holoprosencephaly 65 0.032
468
P HYP060 Hyperinsulinism 57 0.032
469
P OLG002 Oligodendroglioma 55 0.032
470
P MGR003 Migraine with Aura 49 0.032
471
ULC004 Ulcerative Colitis 72 0.032
472
CNN005 Connective Tissue Disease 61 0.032
473
IRR002 Irritable Bowel Syndrome 57 0.032
474
c BSL007 Basal Cell Carcinoma 64 0.032
475
CNG368 Congenital Adrenal Hyperplasia 63 0.032
476
BRC012 Brucellosis 61 0.032
477
P AGN002 Agnosia 59 0.032
478
P GT001 Gout 55 0.032
479
DRG011 Drug Addiction 51 0.032
480
TCD001 Tic Disorder 50 0.032
481
ATM012 Autoimmune Disease of Blood 37 0.032
482
P CHR285 Chronic Myelomonocytic Leukemia 58 0.031
483
PRP030 Purpura 57 0.031
484
TNS005 Tonsillitis 56 0.031
485
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.031
486
SML019 Smallpox 52 0.031
487
CRN030 Coronary Stenosis 49 0.031
488
P CNJ013 Conjunctivitis 63 0.031
489
P HMR003 Hemorrhagic Disease 55 0.031
490
HRP004 Herpes Zoster 54 0.031
491
TRD006 Tardive Dyskinesia 50 0.031
492
PHB001 Phobic Disorder 38 0.031
493
P FRD001 Friedreich Ataxia 62 0.031
494
P FNC043 Fanconi Anemia, Complementation Group E 51 0.031
495
GNG012 Gingival Overgrowth 51 0.031
496
STT041 Stuttering 49 0.031
497
AMN006 Aminoaciduria 40 0.031
498
CMB019 Combined Oxidative Phosphorylation Deficiency 8 32 0.031
499
EYC003 Eye Accommodation Disease 25 0.031
500
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.031
501
P MTC004 Mitochondrial Encephalomyopathy 43 0.031
502
LKM006 Leukomalacia 42 0.031
503
ADT003 Auditory System Disease 41 0.031
504
P ESS003 Essential Thrombocythemia 70 0.031
505
P CHR071 Charcot-Marie-Tooth Disease 67 0.031
506
LVR012 Liver Cirrhosis 66 0.031
507
P CRN015 Cornelia De Lange Syndrome 64 0.031
508
PRM097 Primary Immunodeficiency Disease 64 0.031
509
P NTR004 Neutropenia 58 0.031
510
THR004 Thrombocytosis 52 0.031
511
P CYS018 Cystitis 52 0.031
512
c BPL002 Bipolar I Disorder 46 0.031
513
P DYS005 Dyslexia 36 0.031
514
GLB015 Glioblastoma Multiforme 61 0.030
515
P PSD015 Pseudohypoparathyroidism 46 0.030
516
ADN022 Adenylosuccinase Deficiency 37 0.030
517
ADP007 Adie Pupil 35 0.030
518
c ATM007 Autoimmune Disease of Central Nervous System 27 0.030
519
c MNT226 Mental Retardation, Autosomal Dominant 31 23 0.030
520
CNT047 Contact Dermatitis 59 0.030
521
BNM001 Bone Marrow Cancer 51 0.030
522
SPL018 Splenomegaly 45 0.030
523
CRD118 Cardiovascular Cancer 45 0.030
524
CRB090 Cerebral Hypoxia 44 0.030
525
WLF002 Wolf-Hirschhorn Syndrome 50 0.030
526
P INF016 Infantile Epileptic Encephalopathy 44 0.030
527
INF042 Infant Epilepsy with Migrant Focal Crisis 4 0.030
528
MYL009 Myelodysplastic Syndrome 71 0.030
529
c VRL010 Viral Hepatitis 58 0.030
530
c HPT003 Hepatitis a 56 0.030
531
P LGH007 Leigh Syndrome 69 0.030
532
P HMN010 Hemangioma 59 0.030
533
P INT030 Intracranial Aneurysm 53 0.030
534
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 0.030
535
P LMB006 Limb-Girdle Muscular Dystrophy 50 0.030
536
P PRN026 Porencephaly 48 0.030
537
SKL017 Skeletal Dysplasias 44 0.030
538
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34 0.030
539
RMN002 Ramon Syndrome 33 0.030
540
AVD001 Avoidant Personality Disorder 39 0.030
541
c PLN017 Peeling Skin Syndrome 1 38 0.030
542
P CRN178 Coronary Heart Disease 6 22 0.030
543
ALX003 Alexander Disease 65 0.029
544
CHR066 Chronic Fatigue Syndrome 61 0.029
545
RBS001 Rabies 54 0.029
546
c HYP071 Hypersensitivity Reaction Type Ii Disease 48 0.029
547
PRR019 Perioral Myoclonia with Absences 13 0.029
548
HDG012 Hodgkin Lymphoma 73 0.029
549
P MTC003 Metachromatic Leukodystrophy 70 0.029
550
HMT002 Hematologic Cancer 62 0.029
551
MYL031 Myeloproliferative Neoplasm 57 0.029
552
VSC006 Vascular Cancer 52 0.029
553
SDD007 Sudden Cardiac Death 45 0.029
554
STR067 Stroke, Ischemic 72 0.029
555
P PLY011 Polycystic Ovary Syndrome 63 0.029
556
P THR015 Thrombophilia 58 0.029
557
NWC001 Newcastle Disease 51 0.029
558
PRS042 Prostate Disease 51 0.029
559
P INF049 Infantile Myofibromatosis 47 0.029
560
DSC009 Discoid Lupus Erythematosus 44 0.029
561
CRB011 Cerebrotendinous Xanthomatosis 62 0.029
562
P GLY013 Glycogen Storage Disease 59 0.029
563
P HYP097 Hyperekplexia 52 0.029
564
P KLF001 Kleefstra Syndrome 47 0.029
565
SBP001 Subependymal Giant Cell Astrocytoma 46 0.029
566
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27 0.029
567
ADL051 Adolescence-Adult Electroclinical Syndrome 21 0.029
568
WLS001 Wilson Disease 73 0.029
569
P ANR007 Anorexia Nervosa 60 0.029
570
MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 57 0.029
571
P PLY018 Polycythemia 56 0.029
572
c PRC016 Pre-Eclampsia 56 0.029
573
P PLY019 Polyneuropathy 54 0.029
574
P HYP076 Hyperthyroidism 53 0.029
575
BLD044 Bladder Disease 50 0.029
576
MTB004 Metabolic Acidosis 47 0.029
577
DYS018 Dysostosis 42 0.029
578
DYS009 Dysthymic Disorder 39 0.029
579
c ACT059 Acute Maxillary Sinusitis 36 0.029
580
CHR158 Charles Bonnet Syndrome 20 0.028
581
MVD013 Moved to {607459} 13 0.028
582
MYC061 Myoclonic Epilepsy in Non-Progressive Encephalopathies 4 0.028
583
GLL008 Gilles De La Tourette Syndrome 63 0.028
584
CHR029 Choroid Plexus Papilloma 56 0.028
585
PTT006 Pituitary Adenoma 56 0.028
586
PPL022 Papilloma 54 0.028
587
P DBT005 Diabetes Insipidus 52 0.028
588
QDR001 Quadriplegia 51 0.028
589
CHR003 Cherubism 51 0.028
590
CRD002 Cri-Du-Chat Syndrome 49 0.028
591
INT051 Intussusception 48 0.028
592
c CNG021 Congenital Toxoplasmosis 52 0.028
593
SKL014 Skeletal Dysplasia 46 0.028
594
CHR078 Chorioretinitis 37 0.028
595
c SZR013 Seizures, Benign Neonatal, Type 2 32 0.028
596
ANG037 Angiomatosis 32 0.028
597
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28 0.028
598
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 28 0.028
599
P HNT016 Huntington Disease 76 0.028
600
ACR007 Acromegaly 66 0.028
601
PRP027 Peripheral Vascular Disease 65 0.028
602
P OVR049 Ovarian Disease 54 0.028
603
BRD004 Borderline Personality Disorder 45 0.028
604
OST004 Osteitis Fibrosa 39 0.028
605
c PLM022 Pulmonary Valve Insufficiency 37 0.028
606
URT008 Urticaria Pigmentosa 36 0.028
607
P ALP004 Alport Syndrome 70 0.028
608
P TRN020 Turner Syndrome 65 0.028
609
BRN024 Bronchitis 62 0.028
610
P SHR029 Short Syndrome 61 0.028
611
P HMR012 Hemorrhagic Fever 52 0.028
612
P PMP005 Pemphigus Vulgaris 51 0.028
613
P TRC086 Trichohepatoenteric Syndrome 1 51 0.028
614
LYM116 Lymph Node Disease 47 0.028
615
c MTR002 Mitral Valve Insufficiency 45 0.028
616
NRL004 Neuroleptic Malignant Syndrome 40 0.028
617
HYP030 Hypoactive Sexual Desire Disorder 36 0.028
618
VSC008 Vascular Hemostatic Disease 32 0.028
619
ADL086 Adolescent Idiopathic Scoliosis 32 0.028
620
P PSD087 Pseudoxanthoma Elasticum 67 0.027
621
ATP002 Atopy 61 0.027
622
P RHN004 Rhinitis 59 0.027
623
IMP004 Impetigo 42 0.027
624
MLR002 Miliary Tuberculosis 36 0.027
625
c PLN021 Peeling Skin Syndrome 3 32 0.027
626
P SPN052 Spondyloarthropathy 59 0.027
627
P NPH012 Nephrotic Syndrome 59 0.027
628
P MLT074 Multiple Endocrine Neoplasia 54 0.027
629
P HRD011 Hereditary Spherocytosis 53 0.027
630
P SCK002 Sick Sinus Syndrome 50 0.027
631
P GLT023 Glutaric Acidemia Iic 49 0.027
632
CCN002 Cocaine Abuse 47 0.027
633
MNN009 Meningoencephalitis 45 0.027
634
MTS001 Mutism 41 0.027
635
BND014 Bone Development Disease 39 0.027
636
LYM127 Lymphatic Malformations 38 0.027
637
c DLT002 Dilated Cardiomyopathy 74 0.026
638
P OST001 Osteopetrosis 63 0.026
639
P SCL018 Scoliosis 56 0.026
640
P PRM006 Primary Biliary Cirrhosis 50 0.026
641
CLL003 Cellulitis 48 0.026
642
MDD010 Middle Ear Disease 48 0.026
643
SRT004 Serotonin Syndrome 47 0.026
644
MSC051 Muscular Dystrophy, Rigid Spine, 1 45 0.026
645
SMN008 Semantic Dementia 37 0.026
646
c CNT068 Central Pain Syndrome 29 0.026
647
WLL001 Williams-Beuren Syndrome 62 0.026
648
P LPM005 Lipomatosis 48 0.026
649
c INH020 Inherited Metabolic Disorder 45 0.026
650
MYX001 Myxopapillary Ependymoma 39 0.026
651
ATS010 Autosomal Recessive Disease 39 0.026
652
c ATM075 Autoimmune Encephalitis 37 0.026
653
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36 0.026
654
c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 27 0.026
655
ATH004 Athetosis 26 0.026
656
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 17 0.026
657
MTC007 Mitochondrial Complex I Deficiency 62 0.026
658
c VRL007 Viral Encephalitis 51 0.026
659
FCL072 Focal Cortical Dysplasia, Type Ii, Somatic 44 0.026
660
FTS001 Fetishism 25 0.026
661
INF033 Infancy Electroclinical Syndrome 22 0.026
662
RDS004 Rud Syndrome 13 0.026
663
IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 12 0.026
664
FLN005 Folinic Acid-Responsive Seizures 9 0.026
665
PLM001 Pulmonary Tuberculosis 63 0.026
666
P CCK001 Cockayne Syndrome 62 0.026
667
APP008 Appendicitis 59 0.026
668
P PYL005 Pyelonephritis 52 0.026
669
END030 End Stage Renal Failure 51 0.026
670
DYS073 Dysphagia 47 0.026
671
HPR003 Heparin-Induced Thrombocytopenia 44 0.026
672
LCH009 Lichen Sclerosus 44 0.026
673
ATN004 Autonomic Neuropathy 42 0.026
674
URT001 Urethritis 40 0.026
675
TTR001 Tetralogy of Fallot 69 0.026
676
SCH014 Schistosomiasis 56 0.026
677
CCC002 Coccidiosis 49 0.026
678
PTH002 Pathological Gambling 48 0.026
679
ECT026 Ectopic Pregnancy 48 0.026
680
PST062 Pustulosis Palmaris Et Plantaris 47 0.026
681
P NGH001 Night Blindness 47 0.026
682
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46 0.026
683
SPS007 Spastic Cerebral Palsy 43 0.026
684
BSL009 Basal Ganglia Calcification 43 0.026
685
CNV002 Conversion Disorder 40 0.026
686
P HMF004 Hemifacial Spasm 37 0.026
687
DYS004 Dyscalculia 27 0.026
688
P OST005 Osteogenesis Imperfecta 68 0.026
689
P ADL010 Adult Respiratory Distress Syndrome 60 0.026
690
MSL001 Measles 58 0.026
691
c ACT210 Acute Respiratory Distress Syndrome 56 0.026
692
ORL015 Oral Squamous Cell Carcinoma 55 0.026
693
P PRG013 Paraganglioma 54 0.026
694
SPN027 Spinal Stenosis 53 0.026
695
SBS003 Substance Abuse 52 0.026
696
P LCH002 Lichen Planus 52 0.026
697
DSS009 Disseminated Intravascular Coagulation 50 0.026
698
GRW007 Growth Hormone Deficiency 48 0.026
699
CNJ012 Conjunctival Disease 45 0.026
700
BSL008 Basal Ganglia Disease 44 0.026
701
SWL001 Swallowing Disorders 32 0.026
702
GST019 Gastrointestinal Stromal Tumor 74 0.025
703
P HYP098 Hypereosinophilic Syndrome 61 0.025
704
SYS004 Systemic Mastocytosis 60 0.025
705
P RCK004 Rickets 57 0.025
706
P ACT074 Acute Lymphocytic Leukemia 55 0.025
707
P LRY019 Laryngitis 53 0.025
708
P ALT001 Alternating Hemiplegia of Childhood 53 0.025
709
P PTS002 Ptosis 52 0.025
710
CYT008 Cytomegalovirus Infection 51 0.025
711
INT007 Intermediate Coronary Syndrome 50 0.025
712
ECT093 Ectopic Cushing Syndrome 47 0.025
713
CHR563 Chronic Eosinophilic Leukemia 46 0.025
714
FBR009 Fibrous Dysplasia 44 0.025
715
GLC011 Galactose Epimerase Deficiency 44 0.025
716
AMN003 Amnestic Disorder 43 0.025
717
CRB004 Cerebral Artery Occlusion 42 0.025
718
BRN018 Borna Disease 39 0.025
719
CRB086 Cerebral Aneurysms 38 0.025
720
c CNG033 Congenital Syphilis 37 0.025
721
VNT001 Ventilation Pneumonitis 34 0.025
722
c PLN024 Peeling Skin Syndrome 4 32 0.025
723
GST039 Gastroduodenitis 30 0.025
724
c FBR073 Febrile Seizures, Familial, 1 18 0.025
725
OTT002 Otitis Media 65 0.025
726
P PRT010 Parathyroid Carcinoma 61 0.025
727
P GLL020 Gallbladder Disease 58 0.025
728
P MYS005 Myositis 56 0.025
729
NRN004 Neuroendocrine Tumor 55 0.025
730
P BRC006 Brachydactyly 55 0.025
731
ALL010 Allergic Contact Dermatitis 54 0.025
732
DBT010 Diabetic Neuropathy 54 0.025
733
ALL026 Allergic Hypersensitivity Disease 52 0.025
734
SYS003 Systolic Heart Failure 43 0.025
735
GST071 Gastrointestinal Carcinoma 40 0.025
736
GST078 Gastrointestinal Allergy 39 0.025
737
c DYS103 Dystonia-1, Torsion 39 0.025
738
GRM001 Germ Cell and Embryonal Cancer 38 0.025
739
WHP002 Whiplash 35 0.025
740
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61 0.024
741
P PTT014 Pitt-Hopkins Syndrome 51 0.024
742
ATR057 Atrioventricular Block 49 0.024
743
GNG005 Gangliocytoma 45 0.024
744
CVR006 Cavernous Hemangioma 45 0.024
745
PLM020 Pleomorphic Xanthoastrocytoma 42 0.024
746
CRN031 Cranial Nerve Disease 41 0.024
747
ALX001 Alexia 39 0.024
748
PRD002 Periodic Limb Movement Disorder 39 0.024
749
P KLN006 Koolen-De Vries Syndrome 39 0.024
750
BHR001 Behr Syndrome 38 0.024
751
c PNT034 Pontocerebellar Hypoplasia, Type 2e 36 0.024
752
CHR355 Chromosome 15q13.3 Microdeletion Syndrome 33 0.024
753
TRN006 Transvestism 28 0.024
754
ENC005 Encephalomalacia 27 0.024
755
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25 0.024
756
LNR005 Linear Scleroderma 24 0.024
757
CHL058 Childhood Electroclinical Syndrome 20 0.024
758
NNT041 Neonatal Period Electroclinical Syndrome 20 0.024
759
IQS001 Iqsec2 17 0.024
760
ACT191 Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion 15 0.024
761
EPL138 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 11 0.024
762
P LKM068 Leukemia, Chronic Myeloid, Somatic 64 0.024
763
P PRP003 Porphyria Cutanea Tarda 64 0.024
764
P GCH001 Gaucher's Disease 63 0.024
765
CRT072 Creutzfeldt-Jakob Disease 62 0.024
766
CRN036 Craniopharyngioma 59 0.024
767
c ESS001 Essential Tremor 58 0.024
768
CHL123 Chlamydia 58 0.024
769
MSC077 Muscle Eye Brain Disease 58 0.024
770
P PRM011 Primary Ciliary Dyskinesia 56 0.024
771
ALL006 Allergic Asthma 54 0.024
772
CLB001 Coloboma 54 0.024
773
PRC002 Paracoccidioidomycosis 52 0.024
774
IMP005 Impotence 49 0.024
775
P TRN034 Transverse Myelitis 48 0.024
776
CRC006 Carcinoid Syndrome 48 0.024
777
MYL001 Myelitis 48 0.024
778
CYS008 Cystic Echinococcosis 44 0.024
779
HYP691 Hypomelanosis of Ito 44 0.024
780
c PLN018 Peeling Skin Syndrome 2 43 0.024
781
c HYP507 Hypotrichosis 1 43 0.024
782
c CNT015 Central Sleep Apnea 43 0.024
783
DYS015 Dysentery 39 0.024
784
c SCN006 Secondary Syphilis 39 0.024
785
MLN014 Melnick-Needles Syndrome 37 0.024
786
PLS010 Plasma Protein Metabolism Disease 35 0.024
787
c BRN108 Branchiootic Syndrome 1 35 0.024
788
DVL001 Developmental Coordination Disorder 32 0.024
789
ECH002 Echolalia 30 0.024
790
P CRN037 Craniosynostosis 65 0.024
791
P MYM002 Moyamoya Disease 60 0.024
792
P CTR001 Citrullinemia 60 0.024
793
INT146 Intervertebral Disc Disease 59 0.024
794
P HYP192 Hypocalcemia, Autosomal Dominant 58 0.024
795
FCL009 Focal Dermal Hypoplasia 56 0.024
796
HMR004 Hemorrhagic Fever with Renal Syndrome 56 0.024
797
SMT008 Smith-Magenis Syndrome 55 0.024
798
INT002 Intermittent Claudication 55 0.024
799
P LYM033 Lymphoproliferative Syndrome 54 0.024
800
c EPS035 Episodic Ataxia, Type 2 54 0.024
801
P EPN002 Ependymoma 53 0.024
802
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 52 0.024
803
P NNT009 Neonatal Diabetes Mellitus 51 0.024
804
P KRT007 Keratoconus 48 0.024
805
PNM001 Pneumocystosis 47 0.024
806
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 46 0.024
807
MTC056 Mitochondrial Dna Depletion Syndrome 4a 45 0.024
808
CHR008 Choroiditis 43 0.024
809
MHR001 Mohr-Tranebjaerg Syndrome 43 0.024
810
PRS036 Parasitic Protozoa Infectious Disease 42 0.024
811
ATS008 Autosomal Dominant Disease 40 0.024
812
EPL116 Epileptic Encephalopathy, Childhood-Onset 40 0.024
813
MNR003 Mineral Metabolism Disease 40 0.024
814
DLS001 Delusional Disorder 39 0.024
815
OCL069 Ocular Motor Apraxia 39 0.024
816
c PRM212 Primary Microcephaly 39 0.024
817
SPS019 Spastic Paraparesis 34 0.024
818
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.024
819
SYN057 Syndromic Intellectual Disability 29 0.024
820
DYS003 Dysgraphia 28 0.024
821
PLY110 Polymicrogyria, Bilateral Temporooccipital 24 0.024
822
c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23 0.024
823
c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23 0.024
824
CRD165 Ceroid Lipofuscinosis, Neuronal, Kufs Type, Adult Onset 22 0.024
825
c EPL186 Epilepsy, Juvenile Myoclonic 9 14 0.024
826
P KDN017 Kidney Cancer 65 0.024
827
TYP007 Typhoid Fever 61 0.024
828
PLM033 Pulmonary Embolism 59 0.024
829
P MTR004 Maturity-Onset Diabetes of the Young 57 0.024
830
P UVT001 Uveitis 57 0.024
831
P NPH009 Nephrolithiasis 55 0.024
832
P END033 Endocarditis 53 0.024
833
PLR022 Pleural Disease 52 0.024
834
c HPT007 Hepatitis E 51 0.024
835
END035 Endocrine Gland Cancer 50 0.024
836
ALL009 Allergic Conjunctivitis 50 0.024
837
PRT011 Protein C Deficiency 49 0.024
838
CLC006 Calcinosis 49 0.024
839
P CHL066 Cholangitis 48 0.024
840
CHL004 Cholelithiasis 47 0.024
841
FLL008 Folliculitis 45 0.024
842
LYM067 Lymphoid Leukemia 43 0.024
843
P DNT011 Dentinogenesis Imperfecta 43 0.024
844
PRD003 Periodontosis 41 0.024
845
ATM014 Autoimmune Disease of Endocrine System 35 0.024
846
LNS003 Lens Disease 35 0.024
847
SPR012 Separation Anxiety Disorder 34 0.024
848
c CRN177 Coronary Heart Disease 7 21 0.024
849
c MLT136 Multiple Endocrine Neoplasia 1 68 0.023
850
P CSH001 Cushing's Syndrome 65 0.023
851
RCT015 Reactive Arthritis 63 0.023
852
P ADD001 Addison's Disease 62 0.023
853
P TMP003 Temporal Arteritis 61 0.023
854
ALC006 Alcoholic Hepatitis 58 0.023
855
STF001 Stiff-Person Syndrome 56 0.023
856
MTR014 Motor Neuron Disease 56 0.023
857
P NPH005 Nephronophthisis 54 0.023
858
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 54 0.023
859
P ACT135 Acute Graft Versus Host Disease 52 0.023
860
P BRN009 Burning Mouth Syndrome 52 0.023
861
BRN002 Bronchiolitis 52 0.023
862
P DRM007 Dermatitis Herpetiformis 52 0.023
863
ART001 Arterial Tortuosity Syndrome 51 0.023
864
BLM002 Bulimia Nervosa 51 0.023
865
TXC002 Toxic Encephalopathy 50 0.023
866
c LRG001 Large Cell Carcinoma 50 0.023
867
INF034 Infective Endocarditis 50 0.023
868
ADR012 Adrenal Gland Disease 48 0.023
869
GGR001 Geographic Tongue 47 0.023
870
OST011 Osteomalacia 47 0.023
871
SLP001 Sleeping Sickness 46 0.023
872
RFR010 Refractory Anemia 45 0.023
873
CRB002 Cerebral Primitive Neuroectodermal Tumor 43 0.023
874
CNT019 Central Neurocytoma 41 0.023
875
c CHR020 Chronic Interstitial Cystitis 41 0.023
876
GLM008 Glomus Tumor 41 0.023
877
P HVY001 Heavy Chain Disease 40 0.023
878
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 40 0.023
879
PNC006 Pancreatic Somatostatinoma 35 0.023
880
c SBC003 Subacute Bacterial Endocarditis 34 0.023
881
PRC050 Pericardium Disease 29 0.023
882
YNG002 Young Syndrome 29 0.023
883
c ALZ047 Alzheimer's Disease 10 28 0.023
884
c SPS212 Spastic Ataxia 5, Autosomal Recessive 26 0.023
885
INT110 Intracranial Cysts 25 0.023
886
c ALZ043 Alzheimer's Disease 15 20 0.023
887
c SCN009 Scn1a-Related Seizure Disorders 9 0.023
888
P PHC003 Pheochromocytoma 72 0.023
889
CMM004 Common Variable Immunodeficiency 68 0.023
890
LSH001 Leishmaniasis 66 0.023
891
LYM017 Lyme Disease 62 0.023
892
SPN186 Spinal Cord Injury 62 0.023
893
c HMP004 Hemophilia B 62 0.023
894
NTH001 Netherton Syndrome 55 0.023
895
P SML001 Small Cell Carcinoma 55 0.023
896
SNS001 Sensorineural Hearing Loss 54 0.023
897
P VNS003 Venous Insufficiency 52 0.023
898
SMT006 Somatoform Disorder 51 0.023
899
DBT084 Diabetes Mellitus, Ketosis-Prone 49 0.023
900
BCL002 B Cell Deficiency 48 0.023
901
CTN014 Cutaneous Mastocytosis 47 0.023
902
c HPT015 Hepatitis D 47 0.023
903
PTT009 Pituitary Gland Disease 46 0.023
904
CMP034 Complete Androgen Insensitivity Syndrome 44 0.023
905
FSC004 Fasciitis 44 0.023
906
PLR005 Pleuropneumonia 43 0.023
907
c SVR056 Severe Hemophilia a 43 0.023
908
HYP017 Hypophosphatemia 42 0.023
909
VGN020 Vaginal Disease 41 0.023
910
URT004 Urethral Syndrome 41 0.023
911
c CHR579 Chiari Malformation Type Ii 40 0.023
912
PGM005 Pigment Dispersion Syndrome 39 0.023
913
P GRM010 Germ Cells Tumors 34 0.023
914
CRB040 Cerebrum Cancer 33 0.023
915
SPR024 Supratentorial Cancer 33 0.023
916
NRC019 Neurocutaneous Melanosis, Somatic 32 0.023
917
c MJR007 Major Affective Disorder 1 23 0.023
918
NRR002 Norrie Disease 62 0.022
919
HYP042 Hypochondroplasia 58 0.022
920
P BDD001 Budd-Chiari Syndrome 56 0.022
921
WLF001 Wolff-Parkinson-White Syndrome 55 0.022
922
P DGR001 Digeorge Syndrome 54 0.022
923
P ADM011 Adams-Oliver Syndrome 50 0.022
924
ASP001 Asperger Syndrome 49 0.022
925
MGR028 Migraine with or Without Aura 1 46 0.022
926
MCR191 Microscopic Colitis 46 0.022
927
HTR015 Heterotopia, Periventricular 46 0.022
928
UND005 Undifferentiated Pleomorphic Sarcoma 44 0.022
929
c L2H001 L-2-Hydroxyglutaric Aciduria 44 0.022
930
c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 44 0.022
931
P LYD001 Leydig Cell Tumor 44 0.022
932
OLV002 Oliver Syndrome 43 0.022
933
FCL022 Focal Dystonia 43 0.022
934
CYC008 Cyclic Vomiting Syndrome 39 0.022
935
OST008 Osteosclerotic Myeloma 35 0.022
936
TRG003 Trigeminal Nerve Disease 35 0.022
937
JJN008 Jejunoileitis 34 0.022
938
c BNG030 Benign Ependymoma 33 0.022
939
SPN331 Spondyloocular Syndrome 31 0.022
940
PST086 Posterior Cortical Atrophy 30 0.022
941
CMM006 Commensal Bacterial Infectious Disease 30 0.022
942
FCL003 Facial Hemiatrophy 29 0.022
943
PST048 Postural Orthostatic Tachycardia Syndrome 27 0.022
944
c HYP248 Hyperprolinemia, Type I 24 0.022
945
c MNT246 Mental Retardation, Autosomal Dominant 38 23 0.022
946
c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20 0.022
947
c RNG013 Ring Chromosome 18 20 0.022
948
PRV011 Pervasive Developmental Disorder Not Otherwise Specified 19 0.022
949
ACC002 Accommodative Spasm 15 0.022
950
P AGM001 Agammaglobulinemia 64 0.021
951
OVR029 Ovarian Hyperstimulation Syndrome 61 0.021
952
P ASP006 Aspergillosis 60 0.021
953
FCT003 Factor X Deficiency 59 0.021
954
P MYP006 Myopia 59 0.021
955
P HYP040 Hypospadias 58 0.021
956
c ATM011 Autoimmune Hepatitis 57 0.021
957
CRT016 Carotid Artery Disease 56 0.021
958
P HYP613 Hypophosphatemic Rickets 55 0.021
959
PTT049 Pituitary Adenoma, Acth-Secreting 54 0.021
960
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.021
961
P FTL001 Fetal Alcohol Syndrome 53 0.021
962
HMR039 Hemorrhage, Intracerebral 52 0.021
963
TST014 Testicular Cancer 52 0.021
964
c PRK031 Parkinson Disease 1 51 0.021
965
NRT004 Neuritis 51 0.021
966
P TRT010 Teratoma 51 0.021
967
OPT003 Opiate Dependence 49 0.021
968
OST016 Osteochondrosis 49 0.021
969
BRN032 Brain Glioma 48 0.021
970
YLL001 Yellow Nail Syndrome 48 0.021
971
ANT011 Antisocial Personality Disorder 47 0.021
972
PRM003 Premature Ejaculation 44 0.021
973
PRN011 Pernicious Anemia 43 0.021
974
HYP085 Hypothalamic Disease 42 0.021
975
ART008 Arteriosclerosis Obliterans 42 0.021
976
P CPL003 Capillary Leak Syndrome 41 0.021
977
RFR003 Refractive Error 41 0.021
978
c PRG106 Progressive Muscular Dystrophy 40 0.021
979
CNN002 Cannabis Abuse 40 0.021
980
PRL019 Prolidase Deficiency 40 0.021
981
TXC020 Toxic Oil Syndrome 39 0.021
982
TTR016 Tetra-Amelia Syndrome 38 0.021
983
c MSC050 Muscular Dystrophy, Congenital, 1b 36 0.021
984
PRR013 Prurigo Nodularis 34 0.021
985
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.021
986
CRV069 Cervix Disease 33 0.021
987
c SCH069 Schindler Disease, Type I 33 0.021
988
PHB003 Phobia, Specific 31 0.021
989
FNC005 Functional Colonic Disease 30 0.021
990
HRN022 Hearing Loss/deafness 16 0.021
991
P APL001 Aplastic Anemia 74 0.021
992
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 63 0.021
993
c SPN225 Spondyloarthropathy 1 61 0.021
994
MST017 Mast Cell Disease 61 0.021
995
MXD005 Mixed Connective Tissue Disease 61 0.021
996
ADR016 Adrenal Cortical Carcinoma 60 0.021
997
DRR010 Darier Disease 59 0.021
998
P VNT002 Ventricular Septal Defect 58 0.021
999
P PLC011 Pilocytic Astrocytoma 57 0.021
1000
BTN003 Biotinidase Deficiency 57 0.021
1001
LPT001 Leptospirosis 57 0.021
1002
GLL022 Guillain-Barre Syndrome 55 0.021
1003
TXC005 Toxic Shock Syndrome 55 0.021
1004
PLN006 Poland Syndrome 54 0.021
1005
CMP010 Complex Regional Pain Syndrome 53 0.021
1006
IRN001 Iron Deficiency Anemia 51 0.021
1007
TRY001 Trypanosomiasis 50 0.021
1008
GNG002 Ganglioneuroma 48 0.021
1009
ATY042 Atypical Chronic Myeloid Leukemia 48 0.021
1010
NLS001 Nelson Syndrome 48 0.021
1011
CHR005 Chorioamnionitis 47 0.021
1012
ACH005 Achalasia 47 0.021
1013
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47 0.021
1014
HYP063 Hypersplenism 47 0.021
1015
TBR011 Tuberculous Meningitis 46 0.021
1016
PLM017 Pulmonary Alveolar Microlithiasis 46 0.021
1017
ADR013 Adrenal Gland Hyperfunction 46 0.021
1018
HYD002 Hydronephrosis 46 0.021
1019
MCR037 Macroglossia 45 0.021
1020
P SDR002 Siderosis 44 0.021
1021
HMP009 Haemophilus Influenzae 44 0.021
1022
CRB033 Cerebral Degeneration 44 0.021
1023
MYC005 Myocardial Stunning 44 0.021
1024
MNC006 Monoclonal Gammopathy of Uncertain Significance 43 0.021
1025
PRM237 Primary Hypomagnesemia 43 0.021
1026
EST005 Esotropia 42 0.021
1027
c PRM225 Primary Thrombocytopenia 42 0.021
1028
c HYP073 Hypersensitivity Reaction Type Iv Disease 41 0.021
1029
c PNT036 Pontocerebellar Hypoplasia, Type 6 41 0.021
1030
PHS001 Phosphorus Metabolism Disease 40 0.021
1031
c HYP072 Hypersensitivity Reaction Type Iii Disease 39 0.021
1032
PRX034 Peroxisome Disorders 39 0.021
1033
IMP006 Impulse Control Disorder 39 0.021
1034
SBP002 Subependymal Glioma 38 0.021
1035
c CTR098 Cataract 1, Multiple Types 38 0.021
1036
c PRK045 Parkinson Disease 5 37 0.021
1037
INT011 Interstitial Emphysema 37 0.021
1038
MLT001 Multiple Chemical Sensitivity 37 0.021
1039
MLN001 Melanotic Neuroectodermal Tumor 36 0.021
1040
MNC004 Monoclonal Paraproteinemia 36 0.021
1041
LVR014 Liver Sarcoma 35 0.021
1042
HYP064 Hypogonadotropism 35 0.021
1043
c ALP005 Alpha Chain Disease 34 0.021
1044
c MNT149 Mental Retardation, X-Linked 3 33 0.021
1045
P HYP111 Hyperprolinemia 33 0.021
1046
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 33 0.021
1047
DDN005 Duodenal Somatostatinoma 33 0.021
1048
VHW002 Vohwinkel Syndrome with Ichthyosis 33 0.021
1049
DSS010 Dissociative Disorder 32 0.021
1050
FLL029 Fallopian Tube Disease 32 0.021
1051
AST002 Astroblastoma 32 0.021
1052
HRM003 Hormone Producing Pituitary Cancer 32 0.021
1053
ISC001 Ischemic Neuropathy 32 0.021
1054
HYP034 Hypertensive Encephalopathy 31 0.021
1055
BRL001 Brill-Zinsser Disease 31 0.021
1056
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 30 0.021
1057
P SLP003 Salpingitis 30 0.021
1058
VSL004 Visual Cortex Disease 28 0.021
1059
END074 Endocardium Disease 28 0.021
1060
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27 0.021
1061
MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 27 0.021
1062
MXD014 Mixed Ductal-Endocrine Carcinoma 26 0.021
1063
NDL011 Nodular Ganglioneuroblastoma 26 0.021
1064
c BLP015 Blepharospasm, Primary Benign 25 0.021
1065
RTR023 Retroperitoneal Neuroblastoma 24 0.021
1066
MLN004 Melanotic Medulloblastoma 22 0.021
1067
MYC001 Myoclonic Cerebellar Dyssynergia 20 0.021
1068
LRG005 Large Cell Carcinoma with Rhabdoid Phenotype 20 0.021
1069
FBR012 Fabry Disease 71 0.020
1070
AND015 Androgen Insensitivity 63 0.020
1071
MCK007 Muckle-Wells Syndrome 63 0.020
1072
P LYM025 Lymphedema 60 0.020
1073
LPR018 Leprechaunism 60 0.020
1074
VNW001 Von Willebrand's Disease 60 0.020
1075
LRN004 Laron Dwarfism 59 0.020
1076
FCT006 Factor V Deficiency 59 0.020
1077
P THR005 Thrombotic Thrombocytopenic Purpura 57 0.020
1078
PLS011 Plasmacytoma 56 0.020
1079
VSC003 Visceral Leishmaniasis 55 0.020
1080
LYM022 Lymphangioma 51 0.020
1081
RLP001 Relapsing Polychondritis 51 0.020
1082
SPN051 Spondylitis 51 0.020
1083
P HYP065 Hyperaldosteronism 50 0.020
1084
PRC013 Pericarditis 50 0.020
1085
MSS002 Mass Syndrome 49 0.020
1086
SPT005 Spotted Fever 49 0.020
1087
c LKM060 Leukemia, Acute Lymphoblastic 3 49 0.020
1088
P HML001 Hemolytic-Uremic Syndrome 49 0.020
1089
PRT029 Parathyroid Adenoma 49 0.020
1090
ISL001 Islet Cell Tumor 48 0.020
1091
BRX001 Bruxism 48 0.020
1092
PLR008 Pleurisy 47 0.020
1093
PLS009 Plasma Cell Neoplasm 47 0.020
1094
c ERL020 Early-Onset Schizophrenia 46 0.020
1095
SPN041 Spinal Cord Disease 46 0.020
1096
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46 0.020
1097
HMN032 Human Herpesvirus 8 46 0.020
1098
PRS045 Prostatic Hypertrophy 45 0.020
1099
c ACT042 Acute Pyelonephritis 44 0.020
1100
BCT004 Bacteriuria 44 0.020
1101