Search results for generalized epilepsy

1813 hits were found for generalized epilepsy

# Family MCID Name MIFTS Score
1
c EPL100 Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 47 5.744
2
P IDP010 Idiopathic Generalized Epilepsy 61 4.496
3
GNR006 Generalized Epilepsy and Paroxysmal Dyskinesia 19 4.073
4
c EPL084 Epilepsy, Idiopathic Generalized 11 22 3.851
5
c EPL086 Epilepsy, Idiopathic Generalized 9 24 3.628
6
c EPL142 Epilepsy Idiopathic Generalized 8 20 3.530
7
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 40 3.407
8
P DRV001 Dravet Syndrome 69 3.402
9
c EPL067 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 28 3.252
10
c EPL041 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 25 3.250
11
c FBR082 Febrile Seizures, Familial, 3b 25 3.243
12
c EPL120 Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 34 3.243
13
c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 20 3.240
14
c EPL137 Epilepsy, Childhood Absence 6 23 3.231
15
EPL101 Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 18 3.226
16
c EPL094 Epilepsy, Juvenile Myoclonic 5 23 2.877
17
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 35 2.853
18
c EPL165 Epilepsy, Idiopathic Generalized 14 14 2.516
19
c EPL093 Epilepsy, Idiopathic Generalized 7 14 2.497
20
SCN011 Scn1a- Related Generalized Epilepsy with Febrile Seizures Plus 17 2.101
21
c EPL091 Epilepsy, Idiopathic Generalized 3 15 2.077
22
c EPL092 Epilepsy, Idiopathic Generalized 2 13 2.070
23
c EPL090 Epilepsy, Idiopathic Generalized 5 12 2.058
24
c STX002 Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus 8 2.050
25
c SCN026 Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus 9 2.042
26
SCN012 Scn1a-Related Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 4 2.042
27
BNG063 Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy 3 1.464
28
c GBR002 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus 8 1.462
29
c GBR005 Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus 8 1.462
30
c SCN018 Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus 8 1.462
31
P LPR002 Leopard Syndrome 55 1.442
32
P EPL164 Epilepsy 66 1.003
33
TMP001 Temporal Lobe Epilepsy 50 0.339
34
FCL014 Focal Epilepsy 55 0.327
35
P SZR006 Seizure Disorder 56 0.263
36
P ENC018 Encephalopathy 59 0.261
37
c CNT035 Central Nervous System Disease 60 0.245
38
MYC033 Myoclonus 42 0.224
39
P NRV007 Nervous System Disease 71 0.220
40
ANX002 Anxiety Disorder 67 0.214
41
GNR004 Generalized Anxiety Disorder 51 0.203
42
P MYC026 Myoclonus Epilepsy 34 0.203
43
NRN002 Neuronitis 41 0.187
44
P FBR031 Febrile Seizures 53 0.177
45
P CHL002 Childhood Absence Epilepsy 55 0.177
46
c PRG011 Progressive Myoclonus Epilepsy 39 0.162
47
CRB009 Cerebritis 39 0.134
48
PHT008 Photosensitive Epilepsy 34 0.130
49
RFL002 Reflex Epilepsy 27 0.125
50
P ATX004 Ataxia 53 0.122
51
P INT063 Intellectual Disability 49 0.122
52
STT001 Status Epilepticus 59 0.119
53
DSS008 Disease of Mental Health 52 0.109
54
P TBR001 Tuberous Sclerosis 67 0.107
55
ALR002 Al-Raqad Syndrome 36 0.105
56
LRN003 Learning Disability 49 0.104
57
CMP006 Complex Partial Epilepsy 30 0.101
58
BNG009 Benign Epilepsy with Centrotemporal Spikes 39 0.100
59
P DYS154 Dystonia 65 0.097
60
P MYC023 Myoclonic Astatic Epilepsy 25 0.097
61
PSY004 Psychotic Disorder 67 0.096
62
P LKM002 Leukemia 71 0.095
63
P ENC004 Encephalitis 63 0.094
64
MDD011 Mood Disorder 61 0.093
65
LNN001 Lennox-Gastaut Syndrome 57 0.093
66
ERL001 Early Myoclonic Encephalopathy 49 0.093
67
P MYC068 Myoclonic Epilepsy of Infancy 36 0.093
68
P AXN010 Axenfeld-Rieger Syndrome, Type 3 55 0.093
69
P PRD008 Periodontitis 63 0.090
70
HMP005 Hemiplegia 51 0.089
71
DMN002 Dementia 65 0.089
72
P LPD010 Lipodystrophy 55 0.088
73
SLP005 Sleep Disorder 53 0.088
74
P SCH015 Schizophrenia 77 0.087
75
VSL002 Visual Epilepsy 31 0.086
76
STR067 Stroke, Ischemic 75 0.084
77
END072 Endotheliitis 42 0.084
78
P MYP004 Myopathy 67 0.082
79
P HPT021 Hepatitis 69 0.082
80
P THY032 Thyroiditis 54 0.081
81
PCK002 Pick Disease 68 0.081
82
c CNG012 Congenital Generalized Lipodystrophy 44 0.081
83
P JVN007 Juvenile Absence Epilepsy 40 0.079
84
P HRT032 Heart Disease 75 0.079
85
P SPS003 Spastic Diplegia 52 0.079
86
P MSC005 Muscular Dystrophy 65 0.079
87
WTH001 Withdrawal Disorder 37 0.077
88
END040 Endogenous Depression 53 0.077
89
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 37 0.077
90
CHL071 Child Syndrome 58 0.076
91
KDS001 Kid Syndrome 53 0.076
92
P AGG001 Aggressive Periodontitis 50 0.074
93
HDC001 Headache 54 0.074
94
AND005 Androgen Insensitivity Syndrome, Mild 16 0.074
95
MNT002 Mental Depression 53 0.074
96
FBR064 Febrile Infection-Related Epilepsy Syndrome 25 0.073
97
PLY024 Polymicrogyria 35 0.071
98
WST001 West Syndrome 57 0.071
99
BRN071 Brain Injury 52 0.070
100
ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 17 0.070
101
BRT030 Birth Defects 43 0.069
102
EPL131 Epilepsy, Pyridoxine-Dependent 32 0.069
103
PRD011 Proud Syndrome 42 0.069
104
RTN023 Retinitis 50 0.069
105
ACR041 Acromelic Frontonasal Dysostosis 45 0.069
106
ADJ001 Adjustment Disorder 38 0.069
107
HYP231 Hypothalamic Hamartomas 34 0.069
108
P TRM003 Tremor 54 0.068
109
c EPL070 Epilepsy, Progressive Myoclonic 2b 53 0.068
110
P BRS047 Breast Cancer 100 0.067
111
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 39 0.067
112
BRN028 Brain Cancer 70 0.067
113
P GLM045 Glioma 60 0.067
114
ISC004 Ischemia 61 0.067
115
CND002 Conduct Disorder 54 0.066
116
SPS057 Spasticity 42 0.065
117
P PNC025 Panic Disorder 60 0.065
118
GNG013 Gingivitis 61 0.065
119
ATH003 Atherosclerosis 65 0.065
120
DRG001 Drug Psychosis 38 0.065
121
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 41 0.064
122
ATT013 Attention Deficit-Hyperactivity Disorder 69 0.064
123
EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 42 0.064
124
THR024 Thrombosis 57 0.064
125
P OBS005 Obesity 92 0.064
126
SCL003 Social Phobia 46 0.064
127
EPL095 Epilepsy with Myoclonic Absences 15 0.064
128
c EPL133 Epilepsy, Juvenile Absence 1 26 0.064
129
P PRS038 Personality Disorder 62 0.063
130
ATN002 Autonomic Nervous System Disease 48 0.062
131
ADR009 Adrenal Cortex Disease 39 0.062
132
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 25 0.062
133
UNV001 Unverricht-Lundborg Syndrome 41 0.062
134
APH002 Aphasia 54 0.062
135
GLT021 Glutaricaciduria, Type I 46 0.062
136
HDN002 Head Injury 45 0.062
137
P LPS004 Lupus Erythematosus 64 0.061
138
c BNG079 Benign Adult Familial Myoclonic Epilepsy 26 0.061
139
P NRP001 Neuropathy 59 0.061
140
P LYM118 Lymphoma 69 0.060
141
ALN001 Aland Island Eye Disease 45 0.060
142
P EPL122 Epilepsy, Familial Focal, with Variable Foci 30 0.060
143
P MCR010 Microcephaly 58 0.060
144
HYP711 Hypotonia, Ataxia, and Delayed Development Syndrome 26 0.060
145
AYM001 Ayme-Gripp Syndrome 41 0.060
146
P ANG001 Angelman Syndrome 61 0.060
147
P CRB042 Cerebellar Ataxia 63 0.060
148
P NRV006 Nervous System Cancer 60 0.059
149
ADG002 Audiogenic Seizures 24 0.059
150
HPT074 Hepatic Adenoma, Somatic 50 0.059
151
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 26 0.059
152
SPC010 Speech and Communication Disorders 41 0.059
153
P CRD011 Cardiomyopathy 68 0.058
154
MVM001 Movement Disease 49 0.058
155
ANR040 Aneurysm 57 0.058
156
MSC004 Muscle Tissue Disease 34 0.058
157
P ART022 Arthritis 75 0.057
158
P AST005 Asthma 82 0.057
159
RSP006 Respiratory System Disease 58 0.057
160
SKN016 Skin Disease 66 0.056
161
c EPL121 Epilepsy, Progressive Myoclonic 1a 39 0.056
162
P MYC007 Myocardial Infarction 79 0.056
163
TTN003 Tetanus 61 0.056
164
P MSC033 Muscle Disorders 52 0.056
165
FBR019 Fibromatosis 43 0.056
166
WBR001 Weber Syndrome 41 0.056
167
c MYC048 Myoclonic Epilepsy, Infantile, Familial 25 0.055
168
P BNG006 Benign Familial Neonatal Epilepsy 32 0.055
169
SPC003 Specific Developmental Disorder 38 0.055
170
HYP266 Hypoxia 56 0.055
171
HNM002 Hinman Syndrome 25 0.055
172
NRM005 Neuromuscular Disease 56 0.055
173
PRP019 Peripheral Nervous System Disease 55 0.055
174
P HYP265 Hypotonia 38 0.055
175
CNT069 Centrotemporal Epilepsy 28 0.054
176
P PNC044 Pancreatitis 61 0.054
177
P ATS007 Autism Spectrum Disorder 65 0.054
178
OBS002 Obsessive-Compulsive Disorder 66 0.054
179
PRT004 Partial Sensory Epilepsy 10 0.054
180
PRS047 Prostatitis 56 0.054
181
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 38 0.054
182
AMS002 Amish Infantile Epilepsy Syndrome 35 0.054
183
HYP077 Hypertrichosis 44 0.054
184
P LNG028 Long Qt Syndrome 64 0.054
185
MLR004 Malaria 83 0.054
186
P RTT002 Rett Syndrome 77 0.053
187
GLB003 Globe Disease 32 0.053
188
P BPL003 Bipolar Disorder 62 0.053
189
NTR005 Nutritional Deficiency Disease 36 0.053
190
EPL114 Epilepsy, Familial Temporal Lobe, 1 38 0.053
191
OPT006 Optic Nerve Disease 52 0.053
192
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.053
193
P MSC003 Muscular Atrophy 50 0.052
194
CRB039 Cerebrovascular Disease 63 0.052
195
c EPL132 Epilepsy, Childhood Absence 2 23 0.052
196
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 53 0.052
197
c EPL148 Epilepsy, Myoclonic, Familial Adult, 2 24 0.052
198
c SYS001 Systemic Lupus Erythematosus 86 0.052
199
PRP027 Peripheral Vascular Disease 68 0.052
200
SYN036 Syncope 47 0.051
201
BLD053 Blood Platelet Disease 46 0.051
202
LMB024 Limbic Encephalitis 38 0.051
203
LND001 Landau-Kleffner Syndrome 35 0.051
204
ATX038 Ataxia and Polyneuropathy, Adult-Onset 21 0.051
205
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 43 0.051
206
CYS005 Cysticercosis 54 0.051
207
FST001 Foster-Kennedy Syndrome 31 0.051
208
ONC002 Onchocerciasis 49 0.051
209
P ADN016 Adenocarcinoma 69 0.051
210
VND001 Vein Disease 47 0.050
211
SXL003 Sexual Disorder 42 0.050
212
P HRP006 Herpes Simplex 65 0.050
213
P CRN211 Coronary Artery Disease 74 0.050
214
P INF038 Influenza 72 0.050
215
P MTC069 Mitochondrial Disorders 53 0.050
216
TRM010 Traumatic Brain Injury 52 0.050
217
P SPN046 Spinal Muscular Atrophy 65 0.050
218
SPC005 Speech Disorder 41 0.050
219
ALL026 Allergic Hypersensitivity Disease 52 0.050
220
ATN005 Autonomic Dysfunction 49 0.049
221
ART035 Arterial Calcification of Infancy 37 0.049
222
HV1006 Hiv-1 80 0.049
223
HYP066 Hyperglycemia 61 0.049
224
GNG004 Ganglioglioma 50 0.049
225
c BNG023 Benign Familial Infantile Epilepsy 39 0.049
226
P HYP086 Hypothyroidism 64 0.049
227
P RHM011 Rheumatoid Arthritis 89 0.049
228
P ICH004 Ichthyosis 52 0.049
229
P EPS003 Episodic Ataxia 57 0.049
230
c MYC070 Myoclonic Epilepsy, Juvenile 1 24 0.049
231
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 35 0.049
232
ISC006 Ischemic Heart Disease 68 0.048
233
P CTR002 Cataract 58 0.048
234
P HYP071 Hypersensitivity Reaction Type Ii Disease 49 0.048
235
PRV006 Pervasive Developmental Disorder 53 0.048
236
CTS003 Coats Disease 57 0.048
237
PRP016 Paraplegia 49 0.048
238
SHR102 Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures 43 0.047
239
VSC007 Vascular Disease 67 0.047
240
CSY001 C Syndrome 50 0.047
241
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 27 0.047
242
c EPL155 Epilepsy, Progressive Myoclonic, 8 22 0.047
243
P ALC004 Alcohol Abuse 59 0.047
244
c CRN214 Coronary Heart Disease 5 22 0.047
245
P ENC008 Encephalocele 48 0.047
246
c EPL134 Epilepsy, Progressive Myoclonic 7 23 0.047
247
EPL071 Epilepsy, Nocturnal Frontal Lobe, Type 4 22 0.047
248
ETN001 Eating Disorder 58 0.047
249
c EPL141 Epilepsy, Progressive Myoclonic 5 24 0.047
250
P MNN013 Meningitis 67 0.047
251
P CLR023 Colorectal Cancer 97 0.047
252
PHY002 Physical Disorder 43 0.047
253
BLD054 Blood Protein Disease 37 0.046
254
FCL011 Facial Nerve Disease 36 0.046
255
CRB037 Cerebral Palsy 66 0.046
256
RDN001 Reading Disorder 34 0.046
257
P PRP029 Porphyria 59 0.046
258
ADT003 Auditory System Disease 40 0.046
259
c ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 43 0.046
260
MYC069 Myoclonic-Astastic Epilepsy 18 0.046
261
CNV002 Conversion Disorder 41 0.046
262
JVN026 Jeavons Syndrome 14 0.046
263
GNC005 Geniculate Ganglionitis 27 0.045
264
LCH003 Lichen Nitidus 34 0.045
265
c CRN175 Coronary Heart Disease 4 19 0.045
266
c TRC078 Trichohepatoenteric Syndrome 2 29 0.045
267
ANG049 Angioedema Induced by Ace Inhibitors 34 0.045
268
TBR010 Tuberculosis 70 0.045
269
ART021 Arteriosclerosis 58 0.045
270
HMM003 Hemimegalencephaly 45 0.045
271
MLG120 Malignant Migrating Partial Seizures of Infancy 33 0.045
272
P AST007 Astrocytoma 65 0.045
273
EPL108 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 24 0.044
274
EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 22 0.044
275
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 43 0.044
276
RHM027 Rheumatic Disease 58 0.044
277
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 0.044
278
c PND001 Pain Disorder 54 0.044
279
HYP056 Hypoglycemia 61 0.044
280
ATM053 Autoimmune Disease 2 16 0.044
281
MYC071 Myoclonic-Atonic Epilepsy 21 0.044
282
P CLC005 Celiac Disease 68 0.044
283
DWN001 Down Syndrome 66 0.044
284
BNS002 Bone Structure Disease 37 0.044
285
P NRF002 Neurofibromatosis 71 0.044
286
P INF032 Infertility 59 0.044
287
P ATR011 Atrial Fibrillation 66 0.044
288
P SLP006 Sleep Apnea 61 0.044
289
TTH006 Tooth Disease 52 0.044
290
PHR003 Pharyngitis 56 0.044
291
INS001 Insulinoma 61 0.044
292
P HYP024 Hypoparathyroidism 53 0.044
293
P ALZ034 Alzheimer Disease 92 0.043
294
c CRN172 Coronary Heart Disease 3 19 0.043
295
P CRN178 Coronary Heart Disease 6 21 0.043
296
c EPL145 Epilepsy, Progressive Myoclonic 6 27 0.043
297
c SZR007 Seizures, Benign Familial Infantile, 3 43 0.043
298
P BNG026 Benign Neonatal Seizures 39 0.043
299
P LCT001 Lactic Acidosis 51 0.043
300
PRT036 Peritonitis 63 0.043
301
P FNC043 Fanconi Anemia, Complementation Group E 55 0.043
302
P ECL001 Eclampsia 54 0.043
303
c EPL154 Epilepsy, Progressive Myoclonic, 9 22 0.043
304
P CTS001 Cutis Laxa 58 0.043
305
GST045 Gastroenteritis 59 0.043
306
P GLB002 Glioblastoma 68 0.043
307
P PNM007 Pneumonia 68 0.042
308
LNG099 Lung Disease 64 0.042
309
ALX002 Alexithymia 37 0.042
310
ATR060 Atrial Standstill, Digenic 51 0.042
311
P PLN008 Peeling Skin Syndrome 45 0.042
312
BRN080 Brain Ischemia 41 0.042
313
P SCH018 Schizencephaly 52 0.042
314
EPL115 Epilepsy, Familial Temporal Lobe, 2 24 0.042
315
SMP001 Simple Partial Epilepsy 12 0.042
316
P GNG025 Gingival Fibromatosis 50 0.042
317
SDD007 Sudden Cardiac Death 47 0.042
318
P FRG001 Fragile X Syndrome 69 0.042
319
PST028 Post-Traumatic Stress Disorder 57 0.042
320
GST050 Gastrointestinal System Disease 56 0.042
321
P OST002 Osteoporosis 64 0.042
322
c EPL147 Epilepsy, Myoclonic, Familial Adult, 5 19 0.041
323
BHR001 Behr Syndrome 42 0.041
324
c FBR072 Febrile Seizures, Familial, 11 27 0.041
325
CNT098 Central Core Disease 65 0.041
326
LKC003 Leukocyte Disease 43 0.041
327
PRP021 Peripheral Nervous System Neoplasm 46 0.041
328
GLC008 Glucose Metabolism Disease 42 0.041
329
OBS015 Obesity, Hyperphagia, and Developmental Delay 41 0.041
330
RPR002 Reproductive System Disease 41 0.041
331
ALC007 Alcohol Dependence 63 0.041
332
c CNG031 Congenital Nervous System Abnormality 37 0.041
333
P BLD051 Blood Coagulation Disease 42 0.041
334
MTC057 Mitochondrial Recessive Ataxia Syndrome 48 0.041
335
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 26 0.041
336
EPL150 Epilepsy, Familial Temporal Lobe, 7 18 0.041
337
CRB031 Cerebral Arterial Disease 27 0.040
338
P LYM026 Lymphoblastic Leukemia 62 0.040
339
P HMP006 Hemiplegic Migraine 45 0.040
340
P MYS003 Myasthenia Gravis 67 0.040
341
SPN369 Spinal Disease 39 0.040
342
SCR035 Sacral Agenesis with Vertebral Anomalies 30 0.040
343
P RTN008 Retinitis Pigmentosa 80 0.040
344
P MYT002 Myotonic Dystrophy 48 0.040
345
P MWT001 Mowat-Wilson Syndrome 46 0.040
346
P PRK057 Parkinson Disease, Late-Onset 70 0.040
347
P NRC002 Narcolepsy 62 0.040
348
c STR092 Striatal Degeneration, Autosomal Dominant 2 27 0.040
349
c ATM007 Autoimmune Disease of Central Nervous System 25 0.040
350
OCL009 Ocular Cancer 59 0.040
351
NSD001 Nose Disease 48 0.040
352
P KDN018 Kidney Disease 66 0.040
353
HYP080 Hypogonadism 53 0.040
354
LPD004 Lipoid Nephrosis 48 0.040
355
INS024 Insulin-Like Growth Factor I 75 0.040
356
PRD007 Periodontal Disease 60 0.040
357
P OVR042 Ovarian Cancer 76 0.039
358
LPD008 Lipid Metabolism Disorder 58 0.039
359
P EXN002 Exanthem 57 0.039
360
WLL006 Wells Syndrome 59 0.039
361
P INT068 Intestinal Disease 60 0.039
362
P HMP007 Hemophilia 57 0.039
363
CRB045 Cerebellar Hypoplasia 48 0.038
364
P PHT010 Photoparoxysmal Response 1 28 0.038
365
PRM008 Parametritis 27 0.038
366
c EPL136 Epilepsy, Childhood Absence 5 19 0.038
367
c SCN015 Scn1a-Related Severe Myoclonic Epilepsy in Infancy 13 0.038
368
VRL011 Viral Infectious Disease 55 0.038
369
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.038
370
ADN018 Adenoma 58 0.038
371
BRN106 Burns 52 0.038
372
P PRC019 Precocious Puberty 51 0.038
373
PRS123 Persistent Generalized Lymphadenopathy 31 0.038
374
P MYL005 Myelofibrosis 67 0.038
375
CRD119 Cardiac Arrest 61 0.038
376
PMP001 Pemphigus 50 0.038
377
DWR001 Dwarfism 47 0.038
378
CRB025 Carbohydrate Metabolic Disorder 46 0.038
379
P HYP083 Hypopituitarism 54 0.038
380
APR001 Apraxia 51 0.038
381
PLM010 Pulmonary Edema 54 0.038
382
HYP037 Hyperhomocysteinemia 50 0.038
383
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.038
384
ADL002 Adult Syndrome 52 0.038
385
ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 15 0.038
386
IMM136 Immune System Disease 51 0.038
387
DRG003 Drug Dependence 50 0.038
388
IMP003 Impaired Renal Function Disease 34 0.038
389
VSC008 Vascular Hemostatic Disease 30 0.038
390
PRT014 Protein S Deficiency 53 0.037
391
GDS001 Good Syndrome 44 0.037
392
P DRR001 Diarrhea 60 0.037
393
c THR092 Thrombophilia Due to Thrombin Defect 54 0.037
394
BNF002 Bone Fracture 50 0.037
395
URN009 Urinary System Disease 50 0.037
396
P URF003 Urofacial Syndrome 1 50 0.037
397
FML039 Female Reproductive System Disease 48 0.037
398
P BLD124 Bleeding Disorder, Platelet-Type, 11 40 0.037
399
c HRD010 Hereditary Spastic Paraplegia 67 0.037
400
ATS001 Autistic Disorder 63 0.037
401
c INH020 Inherited Metabolic Disorder 49 0.037
402
PRV004 Periventricular Leukomalacia 48 0.037
403
ALP008 Alopecia 57 0.037
404
P NRN021 Neuronal Ceroid Lipofuscinosis 59 0.037
405
P LSS002 Lissencephaly 49 0.037
406
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 48 0.037
407
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 39 0.037
408
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 38 0.037
409
THN007 Thinking Seizures 9 0.037
410
BLL006 Bullous Pemphigoid 59 0.037
411
ADM013 Adamantinoma of Long Bones 57 0.037
412
MLG056 Malignant Hyperthermia 58 0.037
413
SKN023 Skin Tag 44 0.037
414
MYT011 Myotonia 36 0.037
415
BRD001 Brody Myopathy 47 0.037
416
P CRN035 Cranial Nerve Palsy 46 0.037
417
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.037
418
TRN012 Transient Global Amnesia 39 0.037
419
OBS061 Obstructive Sleep Apnea 66 0.037
420
P LKD001 Leukodystrophy 59 0.037
421
DRG011 Drug Addiction 51 0.037
422
INC022 Inclusion-Cell Disease 46 0.037
423
CRB004 Cerebral Artery Occlusion 45 0.037
424
P HYP069 Hyperparathyroidism 58 0.036
425
NWC001 Newcastle Disease 54 0.036
426
PCH002 Pachygyria 39 0.036
427
ANG050 Angiocentric Glioma 26 0.036
428
P RSP003 Respiratory Failure 71 0.036
429
ACN011 Acne 62 0.036
430
P LGH007 Leigh Syndrome 70 0.036
431
BCK001 Becker Muscular Dystrophy 69 0.036
432
EXF001 Exfoliation Syndrome 57 0.036
433
P DYS021 Dysautonomia 44 0.036
434
P CRD132 Cardiac Conduction Defect 43 0.036
435
P CRB088 Cerebral Atrophy 42 0.036
436
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 33 0.036
437
MLR007 Male Reproductive System Disease 34 0.036
438
P ANT006 Antiphospholipid Syndrome 56 0.036
439
MGL013 Megalencephaly 52 0.036
440
CRT012 Cortical Blindness 35 0.036
441
PRT037 Pertussis 64 0.036
442
P HPT023 Hepatocellular Carcinoma 92 0.036
443
AGR002 Agoraphobia 44 0.036
444
RST001 Restless Legs Syndrome 54 0.036
445
CNS004 Constipation 57 0.035
446
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 39 0.035
447
P ENC011 Encephalomyopathy 37 0.035
448
MNK001 Menkes Disease 60 0.035
449
MGL001 Megaloblastic Anemia 50 0.035
450
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 30 0.035
451
MDN008 Median Arcuate Ligament Syndrome 28 0.035
452
P PRD006 Prader-Willi Syndrome 62 0.035
453
P HYP263 Hypersomnia 40 0.035
454
P AMY004 Amyloidosis 65 0.035
455
P ESP024 Esophagitis 61 0.035
456
P RCK004 Rickets 61 0.035
457
MSC072 Muscle Cancer 49 0.035
458
MRG013 Mirage Syndrome 29 0.035
459
P NMN002 Niemann-Pick Disease 65 0.035
460
c BSL007 Basal Cell Carcinoma 65 0.035
461
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.035
462
GLM004 Gliomatosis Cerebri 49 0.035
463
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 44 0.035
464
c SZR008 Seizures, Benign Neonatal, 1 32 0.035
465
c EPL144 Epilepsy, Progressive Myoclonic 1b 19 0.035
466
EPL152 Epilepsy, Familial Temporal Lobe, 8 13 0.035
467
BNG081 Benign Childhood Occipital Epilepsy, Panayiotopoulos Type 9 0.035
468
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 78 0.035
469
P BRG001 Brugada Syndrome 59 0.035
470
P DBT083 Diabetes Mellitus, Permanent Neonatal 55 0.035
471
URB001 Urbach-Wiethe Disease 49 0.035
472
P PRN026 Porencephaly 48 0.035
473
P SNS014 Sinusitis 60 0.035
474
P GNR027 Generalized Peeling Skin Syndrome 19 0.035
475
CNG034 Congestive Heart Failure 72 0.034
476
ACQ007 Acquired Immunodeficiency Syndrome 60 0.034
477
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 54 0.034
478
PRP080 Peripheral Artery Disease 37 0.034
479
c AST039 Asthma 2 28 0.034
480
P EHL001 Ehlers-Danlos Syndrome 63 0.034
481
VSC011 Vasculitis 62 0.034
482
C3D001 C3 Deficiency 53 0.034
483
P LTR001 Lateral Sclerosis 53 0.034
484
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 42 0.034
485
P LYM033 Lymphoproliferative Syndrome 56 0.034
486
P RTN016 Retinal Degeneration 54 0.034
487
c BPL002 Bipolar I Disorder 47 0.034
488
FNT004 Fainting 33 0.034
489
P ATX010 Ataxia Neuropathy Spectrum 30 0.034
490
P THR014 Thrombocytopenia 64 0.034
491
EYD002 Eye Disease 61 0.034
492
CLT003 Colitis 60 0.034
493
SBS003 Substance Abuse 54 0.034
494
OCL006 Ocular Hypertension 48 0.034
495
PHN003 Phenylketonuria 72 0.034
496
PST021 Postpartum Depression 49 0.034
497
CNT017 Central Nervous System Origin Vertigo 24 0.034
498
SSM001 Sesame Syndrome 52 0.033
499
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 30 0.033
500
P TXP001 Toxoplasmosis 61 0.033
501
TXC002 Toxic Encephalopathy 51 0.033
502
HYP043 Hyperandrogenism 47 0.033
503
TNS007 Taeniasis 41 0.033
504
CRN031 Cranial Nerve Disease 40 0.033
505
TXC011 Toxocariasis 36 0.033
506
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28 0.033
507
SQM006 Squamous Cell Carcinoma 70 0.033
508
P INF037 Inflammatory Bowel Disease 63 0.033
509
GST092 Gastroesophageal Reflux 62 0.033
510
PRM097 Primary Immunodeficiency Disease 60 0.033
511
STM006 Stomach Disease 50 0.033
512
P THR015 Thrombophilia 59 0.033
513
P PLY006 Polydactyly 56 0.033
514
P MTC003 Metachromatic Leukodystrophy 70 0.033
515
CRB090 Cerebral Hypoxia 45 0.033
516
c FML023 Familial Hemiplegic Migraine 51 0.033
517
DCH001 Duchenne Muscular Dystrophy 79 0.033
518
LPM004 Lipoma 60 0.033
519
PTH002 Pathological Gambling 51 0.033
520
P AML002 Amelogenesis Imperfecta 45 0.033
521
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 39 0.033
522
VTM003 Vitamin Metabolic Disorder 30 0.033
523
P OLG002 Oligodendroglioma 56 0.033
524
GST053 Gastric Cancer 78 0.033
525
P LVR013 Liver Disease 75 0.033
526
c HMP029 Hemophilia a 63 0.033
527
MYC002 Mycobacterium Avium Complex Disease 52 0.033
528
INT253 Intestinal Benign Neoplasm 47 0.033
529
c AST037 Asthma 1 28 0.033
530
P GRV001 Graves' Disease 59 0.032
531
P STR020 Strabismus 51 0.032
532
THY030 Thyroid Gland Disease 48 0.032
533
P SHR029 Short Syndrome 58 0.032
534
CHN016 Cohen Syndrome 54 0.032
535
P CYS018 Cystitis 52 0.032
536
TCD001 Tic Disorder 48 0.032
537
ACD009 Acid-Labile Subunit, Deficiency of 45 0.032
538
NSY001 N Syndrome 36 0.032
539
ATM012 Autoimmune Disease of Blood 35 0.032
540
ULC004 Ulcerative Colitis 76 0.032
541
IRR002 Irritable Bowel Syndrome 58 0.032
542
ATM052 Autoimmune Disease 1 25 0.032
543
XLN215 X-Linked Congenital Generalized Hypertrichosis 16 0.032
544
ATM054 Autoimmune Disease 3 15 0.032
545
DNT012 Dental Caries 46 0.032
546
CRD118 Cardiovascular Cancer 44 0.032
547
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.032
548
c CRN177 Coronary Heart Disease 7 20 0.032
549
ATM055 Autoimmune Disease 4 15 0.032
550
c NRF018 Neurofibromatosis, Type 1 67 0.032
551
P FRD001 Friedreich Ataxia 62 0.032
552
PPL022 Papilloma 55 0.032
553
GNG012 Gingival Overgrowth 52 0.032
554
XNT003 Xanthomatosis 46 0.032
555
MTS001 Mutism 43 0.032
556
AMN006 Aminoaciduria 40 0.032
557
DVL001 Developmental Coordination Disorder 36 0.032
558
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 29 0.032
559
c VRL007 Viral Encephalitis 54 0.032
560
CMR002 Coumarin Resistance 48 0.032
561
P MTC004 Mitochondrial Encephalomyopathy 42 0.032
562
ARC002 Arachnoiditis 41 0.032
563
P MDL005 Medulloblastoma 77 0.031
564
P LPR003 Leprosy 69 0.031
565
CNN005 Connective Tissue Disease 62 0.031
566
RCT018 Rectal Neoplasm 54 0.031
567
TRD006 Tardive Dyskinesia 49 0.031
568
PHB001 Phobic Disorder 34 0.031
569
WLF002 Wolf-Hirschhorn Syndrome 49 0.031
570
INF042 Infant Epilepsy with Migrant Focal Crisis 4 0.031
571
GLB015 Glioblastoma Multiforme 63 0.031
572
P PSD015 Pseudohypoparathyroidism 46 0.031
573
ATS010 Autosomal Recessive Disease 41 0.031
574
ANG037 Angiomatosis 37 0.031
575
ADN022 Adenylosuccinase Deficiency 35 0.031
576
c MNT226 Mental Retardation, Autosomal Dominant 31 20 0.031
577
KWS002 Kawasaki Disease 70 0.031
578
P OST001 Osteopetrosis 63 0.031
579
P CRN015 Cornelia De Lange Syndrome 62 0.031
580
P NTR004 Neutropenia 59 0.031
581
P GT001 Gout 58 0.031
582
P HYP076 Hyperthyroidism 55 0.031
583
P PMP005 Pemphigus Vulgaris 51 0.031
584
SRT004 Serotonin Syndrome 49 0.031
585
P DYS005 Dyslexia 37 0.031
586
EYC003 Eye Accommodation Disease 24 0.031
587
PLM033 Pulmonary Embolism 60 0.031
588
SNS001 Sensorineural Hearing Loss 57 0.031
589
BND014 Bone Development Disease 40 0.031
590
ACR002 Acrocapitofemoral Dysplasia 33 0.031
591
c MJR007 Major Affective Disorder 1 24 0.031
592
c MJR008 Major Affective Disorder 2 19 0.031
593
SBS004 Substance Dependence 47 0.031
594
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.031
595
PRM025 Primary Bacterial Infectious Disease 41 0.031
596
P HYD006 Hydrocephalus 66 0.030
597
P HLP001 Holoprosencephaly 63 0.030
598
WLL001 Williams-Beuren Syndrome 60 0.030
599
P HMN010 Hemangioma 59 0.030
600
P INT030 Intracranial Aneurysm 54 0.030
601
P MGR003 Migraine with Aura 52 0.030
602
STT041 Stuttering 48 0.030
603
CMB019 Combined Oxidative Phosphorylation Deficiency 8 31 0.030
604
RMN002 Ramon Syndrome 30 0.030
605
c FBR069 Febrile Seizures, Familial, 4 21 0.030
606
c FBR073 Febrile Seizures, Familial, 1 16 0.030
607
P CHR071 Charcot-Marie-Tooth Disease 67 0.030
608
RBS001 Rabies 56 0.030
609
VSC006 Vascular Cancer 51 0.030
610
OCL069 Ocular Motor Apraxia 44 0.030
611
TTR016 Tetra-Amelia Syndrome 36 0.030
612
PRR019 Perioral Myoclonia with Absences 11 0.030
613
WLS001 Wilson Disease 72 0.030
614
ORL015 Oral Squamous Cell Carcinoma 57 0.030
615
CRT016 Carotid Artery Disease 57 0.030
616
PRT011 Protein C Deficiency 52 0.030
617
c CRN176 Coronary Heart Disease 9 18 0.030
618
c CLR085 Colorectal Cancer 1 45 0.030
619
ACT084 Acute Stress Disorder 40 0.030
620
c ART106 Arterial Calcification, Generalized, of Infancy, 1 39 0.030
621
LRY017 Laryngeal Disease 34 0.030
622
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 50 0.029
623
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 48 0.029
624
LKM006 Leukomalacia 43 0.029
625
c ATM075 Autoimmune Encephalitis 38 0.029
626
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28 0.029
627
ARC007 Arachnoid Cysts 39 0.029
628
CHR158 Charles Bonnet Syndrome 22 0.029
629
EPL074 Epilepsy, Hot Water, 1 7 0.029
630
MYC061 Myoclonic Epilepsy in Non-Progressive Encephalopathies 4 0.029
631
CNT047 Contact Dermatitis 61 0.029
632
ATN004 Autonomic Neuropathy 45 0.029
633
c CRN173 Coronary Heart Disease 8 18 0.029
634
HDG012 Hodgkin Lymphoma 77 0.029
635
P ALX003 Alexander Disease 63 0.029
636
CNG368 Congenital Adrenal Hyperplasia 62 0.029
637
P ANR007 Anorexia Nervosa 61 0.029
638
P GLM007 Glomerulonephritis 59 0.029
639
c PRC016 Pre-Eclampsia 56 0.029
640
P PLY019 Polyneuropathy 56 0.029
641
MTB004 Metabolic Acidosis 48 0.029
642
BSL008 Basal Ganglia Disease 40 0.029
643
GND003 Gonadal Disease 39 0.029
644
DYS009 Dysthymic Disorder 37 0.029
645
SWL001 Swallowing Disorders 33 0.029
646
DSS010 Dissociative Disorder 32 0.029
647
P GCH001 Gaucher's Disease 62 0.029
648
PTT006 Pituitary Adenoma 56 0.029
649
P CDS001 Cadasil 55 0.029
650
CHR029 Choroid Plexus Papilloma 55 0.029
651
CYT008 Cytomegalovirus Infection 52 0.029
652
CHR003 Cherubism 50 0.029
653
CCN002 Cocaine Abuse 48 0.029
654
CRD002 Cri-Du-Chat Syndrome 48 0.029
655
FBR009 Fibrous Dysplasia 45 0.029
656
CNN002 Cannabis Abuse 40 0.029
657
LYM127 Lymphatic Malformations 39 0.029
658
c MJR004 Major Affective Disorder 4 16 0.029
659
P HYP060 Hyperinsulinism 58 0.029
660
P NGH001 Night Blindness 48 0.029
661
MGR028 Migraine with or Without Aura 1 47 0.029
662
SKL014 Skeletal Dysplasia 46 0.029
663
SKL017 Skeletal Dysplasias 45 0.029
664
c CNT015 Central Sleep Apnea 44 0.029
665
CHR078 Chorioretinitis 40 0.029
666
ATH004 Athetosis 26 0.029
667
P HNT016 Huntington Disease 80 0.028
668
ACR007 Acromegaly 66 0.028
669
BNC003 Bone Cancer 58 0.028
670
P SYP003 Syphilis 53 0.028
671
BNM001 Bone Marrow Cancer 51 0.028
672
BRD004 Borderline Personality Disorder 47 0.028
673
P SKN013 Skin Benign Neoplasm 43 0.028
674
c PLN017 Peeling Skin Syndrome 1 34 0.028
675
P TRN020 Turner Syndrome 65 0.028
676
P PRM019 Premature Ovarian Failure 64 0.028
677
P HRD018 Hair Disease 51 0.028
678
SMT006 Somatoform Disorder 50 0.028
679
DYS018 Dysostosis 44 0.028
680
HYP017 Hypophosphatemia 43 0.028
681
NRL004 Neuroleptic Malignant Syndrome 41 0.028
682
HYP030 Hypoactive Sexual Desire Disorder 39 0.028
683
c BRN108 Branchiootic Syndrome 1 34 0.028
684
c CNT068 Central Pain Syndrome 29 0.028
685
P NPH012 Nephrotic Syndrome 59 0.028
686
P HRD011 Hereditary Spherocytosis 54 0.028
687
BLM002 Bulimia Nervosa 52 0.028
688
MYL001 Myelitis 51 0.028
689
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 0.028
690
P ALT001 Alternating Hemiplegia of Childhood 50 0.028
691
P TRN034 Transverse Myelitis 49 0.028
692
AMN003 Amnestic Disorder 43 0.028
693
NRS003 Neurosyphilis 41 0.028
694
WRT002 Writing Disorder 27 0.028
695
YNG002 Young Syndrome 26 0.028
696
TST021 Testicular Germ Cell Tumor 69 0.028
697
P CCK001 Cockayne Syndrome 61 0.028
698
ORL011 Oral Cancer 56 0.028
699
KRT009 Keratosis 52 0.028
700
c PLM022 Pulmonary Valve Insufficiency 34 0.028
701
c PLN021 Peeling Skin Syndrome 3 29 0.028
702
P HYP097 Hyperekplexia 54 0.027
703
FTS001 Fetishism 26 0.027
704
RDS004 Rud Syndrome 14 0.027
705
IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 12 0.027
706
FLN005 Folinic Acid-Responsive Seizures 10 0.027
707
CRB011 Cerebrotendinous Xanthomatosis 61 0.027
708
P GLY013 Glycogen Storage Disease 60 0.027
709
SMT008 Smith-Magenis Syndrome 52 0.027
710
PRN009 Paranoid Schizophrenia 47 0.027
711
LPM005 Lipomatosis 47 0.027
712
CHR008 Choroiditis 44 0.027
713
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 41 0.027
714
P KLF001 Kleefstra Syndrome 41 0.027
715
IMP006 Impulse Control Disorder 40 0.027
716
c RCR002 Recurrent Hypersomnia 36 0.027
717
CRB159 Cerebral Visual Impairment 33 0.027
718
c ATS307 Autosomal Recessive Cerebellar Ataxia 30 0.027
719
ADL051 Adolescence-Adult Electroclinical Syndrome 22 0.027
720
c SZR014 Seizures, Benign Familial Infantile, 1 20 0.027
721
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 14 0.027
722
LVR012 Liver Cirrhosis 67 0.027
723
CHR066 Chronic Fatigue Syndrome 64 0.027
724
P AGN002 Agnosia 57 0.027
725
P MLT074 Multiple Endocrine Neoplasia 56 0.027
726
c HYP615 Hyperparathyroidism, Familial Primary 56 0.027
727
AMY066 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 54 0.027
728
KRT002 Keratomalacia 52 0.027
729
CLL003 Cellulitis 51 0.027
730
P TRC086 Trichohepatoenteric Syndrome 1 48 0.027
731
P OST005 Osteogenesis Imperfecta 69 0.027
732
PLM001 Pulmonary Tuberculosis 67 0.027
733
EWN003 Ewing Sarcoma 66 0.027
734
P PSD087 Pseudoxanthoma Elasticum 66 0.027
735
APP008 Appendicitis 60 0.027
736
CHR285 Chronic Myelomonocytic Leukemia 56 0.027
737
ESP023 Esophageal Disease 54 0.027
738
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.027
739
P PYL005 Pyelonephritis 52 0.027
740
SPL018 Splenomegaly 44 0.027
741
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 42 0.027
742
URT001 Urethritis 41 0.027
743
GRM001 Germ Cell and Embryonal Cancer 36 0.027
744
TTR001 Tetralogy of Fallot 71 0.026
745
c ESS001 Essential Tremor 59 0.026
746
STF001 Stiff-Person Syndrome 56 0.026
747
P NPH005 Nephronophthisis 55 0.026
748
P EPN002 Ependymoma 53 0.026
749
SLP001 Sleeping Sickness 48 0.026
750
SPS007 Spastic Cerebral Palsy 44 0.026
751
BSL009 Basal Ganglia Calcification 43 0.026
752
c PRK045 Parkinson Disease 5 40 0.026
753
P HMF004 Hemifacial Spasm 39 0.026
754
c PRK025 Parkinson Disease 10 38 0.026
755
ADP007 Adie Pupil 34 0.026
756
VSL004 Visual Cortex Disease 28 0.026
757
c SCN009 Scn1a-Related Seizure Disorders 22 0.026
758
P HYP607 Hypercholesterolemia, Familial 76 0.026
759
P LYN001 Lynch Syndrome 69 0.026
760
BRC012 Brucellosis 66 0.026
761
HMT002 Hematologic Cancer 64 0.026
762
P ADL010 Adult Respiratory Distress Syndrome 61 0.026
763
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.026
764
c FML001 Familial Atrial Fibrillation 58 0.026
765
P INT143 Interstitial Cystitis 57 0.026
766
P GST044 Gastritis 56 0.026
767
DBT010 Diabetic Neuropathy 55 0.026
768
c ART101 Aortic Valve Disease 2 53 0.026
769
BLD044 Bladder Disease 51 0.026
770
DYS073 Dysphagia 48 0.026
771
c CHR418 Chronic Leukemia 47 0.026
772
LYM067 Lymphoid Leukemia 44 0.026
773
MLR006 Male Reproductive Organ Cancer 43 0.026
774
c ACT059 Acute Maxillary Sinusitis 37 0.026
775
GLL008 Gilles De La Tourette Syndrome 62 0.026
776
P ACT074 Acute Lymphocytic Leukemia 56 0.026
777
PTT049 Pituitary Adenoma, Acth-Secreting 53 0.026
778
P PTS002 Ptosis 51 0.026
779
CRB085 Cerebral Hemorrhage 46 0.026
780
c MTR002 Mitral Valve Insufficiency 44 0.026
781
MLT001 Multiple Chemical Sensitivity 43 0.026
782
BRN018 Borna Disease 42 0.026
783
CHR322 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 40 0.026
784
ATN003 Autonomic Nervous System Neoplasm 40 0.026
785
SXD001 Sex Differentiation Disease 38 0.026
786
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 36 0.026
787
KRT004 Keratitis 71 0.025
788
OTT002 Otitis Media 66 0.025
789
P CNJ013 Conjunctivitis 64 0.025
790
P NPH009 Nephrolithiasis 60 0.025
791
MYL031 Myeloproliferative Neoplasm 58 0.025
792
ALL010 Allergic Contact Dermatitis 57 0.025
793
P END033 Endocarditis 54 0.025
794
GRW007 Growth Hormone Deficiency 50 0.025
795
CLC006 Calcinosis 50 0.025
796
c DWL002 Dowling-Degos Disease 1 49 0.025
797
P FML035 Familial Hyperlipidemia 48 0.025
798
P OTT001 Otitis Externa 47 0.025
799
FLT006 Floating-Harbor Syndrome 42 0.025
800
GST071 Gastrointestinal Carcinoma 42 0.025
801
c DYS103 Dystonia-1, Torsion 36 0.025
802
OBS003 Obsessive-Compulsive Personality Disorder 36 0.025
803
SBC017 Sebaceous Gland Disease 34 0.025
804
P CHR084 Chromosomal Disease 32 0.025
805
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 60 0.025
806
P ADM011 Adams-Oliver Syndrome 48 0.025
807
c CNG021 Congenital Toxoplasmosis 48 0.025
808
P PTT014 Pitt-Hopkins Syndrome 47 0.025
809
GNG005 Gangliocytoma 45 0.025
810
OLV002 Oliver Syndrome 43 0.025
811
ALX001 Alexia 40 0.025
812
PRD002 Periodic Limb Movement Disorder 40 0.025
813
P KLN006 Koolen-De Vries Syndrome 36 0.025
814
TRN006 Transvestism 29 0.025
815
ENC005 Encephalomalacia 27 0.025
816
LNR005 Linear Scleroderma 26 0.025
817
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25 0.025
818
INF033 Infancy Electroclinical Syndrome 21 0.025
819
CHL058 Childhood Electroclinical Syndrome 20 0.025
820
ACT191 Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion 15 0.025
821
P PRP003 Porphyria Cutanea Tarda 64 0.025
822
P CRT072 Creutzfeldt-Jakob Disease 61 0.025
823
CRN036 Craniopharyngioma 59 0.025
824
MTR014 Motor Neuron Disease 58 0.025
825
MSC077 Muscle Eye Brain Disease 57 0.025
826
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 0.025
827
P SCK002 Sick Sinus Syndrome 50 0.025
828
c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 48 0.025
829
HYP691 Hypomelanosis of Ito 42 0.025
830
RMS001 Rem Sleep Behavior Disorder 41 0.025
831
c PLN018 Peeling Skin Syndrome 2 40 0.025
832
CRB086 Cerebral Aneurysms 39 0.025
833
ATS009 Autosomal Genetic Disease 35 0.025
834
MLN014 Melnick-Needles Syndrome 35 0.025
835
PLS010 Plasma Protein Metabolism Disease 34 0.025
836
ECH002 Echolalia 30 0.025
837
P CRN037 Craniosynostosis 66 0.025
838
P MYM002 Moyamoya Disease 61 0.025
839
P CTR001 Citrullinemia 59 0.025
840
P HYP192 Hypocalcemia, Autosomal Dominant 56 0.025
841
FCL009 Focal Dermal Hypoplasia 54 0.025
842
P DGR001 Digeorge Syndrome 53 0.025
843
P LMB006 Limb-Girdle Muscular Dystrophy 51 0.025
844
c EPS035 Episodic Ataxia, Type 2 51 0.025
845
MTC056 Mitochondrial Dna Depletion Syndrome 4a 48 0.025
846
TBR011 Tuberculous Meningitis 47 0.025
847
P HTR015 Heterotopia, Periventricular 46 0.025
848
BRN045 Brunner Syndrome 46 0.025
849
HMP009 Haemophilus Influenzae 45 0.025
850
FCL022 Focal Dystonia 44 0.025
851
DLS001 Delusional Disorder 41 0.025
852
SPS019 Spastic Paraparesis 41 0.025
853
c PRM212 Primary Microcephaly 40 0.025
854
EPL116 Epileptic Encephalopathy, Childhood-Onset 40 0.025
855
ATS008 Autosomal Dominant Disease 39 0.025
856
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 39 0.025
857
DYS003 Dysgraphia 36 0.025
858
c SZR013 Seizures, Benign Neonatal, Type 2 32 0.025
859
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 31 0.025
860
TRG003 Trigeminal Nerve Disease 30 0.025
861
FCL003 Facial Hemiatrophy 30 0.025
862
c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 28 0.025
863
DYS004 Dyscalculia 27 0.025
864
c EPL026 Epileptic Encephalopathy, Early Infantile, 3 27 0.025
865
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25 0.025
866
DSS025 Dissociative Seizures 22 0.025
867
MYC001 Myoclonic Cerebellar Dyssynergia 20 0.025
868
PRV011 Pervasive Developmental Disorder Not Otherwise Specified 19 0.025
869
ESP021 Esophageal Cancer 76 0.024
870
P ESS003 Essential Thrombocythemia 70 0.024
871
P ALP004 Alport Syndrome 69 0.024
872
P LKM068 Leukemia, Chronic Myeloid, Somatic 68 0.024
873
SPN186 Spinal Cord Injury 63 0.024
874
P PLY018 Polycythemia 58 0.024
875
P UVT001 Uveitis 58 0.024
876
P MMP001 Mumps 58 0.024
877
PLY023 Polycystic Liver Disease 56 0.024
878
P SCL018 Scoliosis 55 0.024
879
VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 54 0.024
880
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 52 0.024
881
CRC006 Carcinoid Syndrome 52 0.024
882
ACT008 Actinic Keratosis 51 0.024
883
c GNG001 Gangliosidosis Gm1 51 0.024
884
P EPD002 Epidermolytic Hyperkeratosis 50 0.024
885
P DDN001 Duodenal Ulcer 50 0.024
886
FLL008 Folliculitis 46 0.024
887
P PRK001 Porokeratosis 45 0.024
888
URT004 Urethral Syndrome 45 0.024
889
CRN024 Corneal Disease 44 0.024
890
PRD003 Periodontosis 41 0.024
891
GST078 Gastrointestinal Allergy 40 0.024
892
ATM014 Autoimmune Disease of Endocrine System 36 0.024
893
SQM013 Squamous Cell Carcinoma, Head and Neck 70 0.023
894
P CSH001 Cushing's Syndrome 65 0.023
895
P MCL013 Mucolipidosis Iv 62 0.023
896
c MNN043 Meningioma, Familial 59 0.023
897
PPT005 Peptic Ulcer Disease 58 0.023
898
P PRM011 Primary Ciliary Dyskinesia 57 0.023
899
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 53 0.023
900
P CFF001 Coffin-Siris Syndrome 51 0.023
901
ART001 Arterial Tortuosity Syndrome 50 0.023
902
IMG001 Image Syndrome 50 0.023
903
INT075 Intracranial Hypertension 50 0.023
904
HLL004 Hellp Syndrome 50 0.023
905
OST011 Osteomalacia 49 0.023
906
PRT030 Parathyroid Gland Disease 47 0.023
907
P ICH001 Ichthyosis Vulgaris 46 0.023
908
CRB008 Cerebral Atherosclerosis 43 0.023
909
GLC011 Galactose Epimerase Deficiency 41 0.023
910
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 41 0.023
911
MNR003 Mineral Metabolism Disease 38 0.023
912
SYN058 Synucleinopathy 38 0.023
913
MNT046 Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia 38 0.023
914
BNR001 Bone Remodeling Disease 37 0.023
915
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 34 0.023
916
c MLT093 Multiple Sclerosis 2 18 0.023
917
P TYS001 Tay-Sachs Disease 71 0.023
918
KPS004 Kaposi Sarcoma 67 0.023
919
DFC004 Deficiency Anemia 64 0.023
920
FCT003 Factor X Deficiency 61 0.023
921
P MCP010 Mucopolysaccharidosis 60 0.023
922
TXC005 Toxic Shock Syndrome 60 0.023
923
MCR013 Microphthalmia 60 0.023
924
P MTR004 Maturity-Onset Diabetes of the Young 58 0.023
925
SFT003 Soft Tissue Sarcoma 57 0.023
926
P INT070 Intestinal Obstruction 57 0.023
927
ECH003 Echinococcosis 54 0.023
928
TRN018 Transitional Cell Carcinoma 53 0.023
929
P FTL001 Fetal Alcohol Syndrome 53 0.023
930
P PNC001 Pancytopenia 52 0.023
931
P HMC002 Homocystinuria 50 0.023
932
CTN014 Cutaneous Mastocytosis 49 0.023
933
P CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 48 0.023
934
PLS009 Plasma Cell Neoplasm 48 0.023
935
YLL001 Yellow Nail Syndrome 48 0.023
936
DBT084 Diabetes Mellitus, Ketosis-Prone 47 0.023
937
PTT009 Pituitary Gland Disease 47 0.023
938
ASP007 Aspiration Pneumonia 47 0.023
939
PRS039 Prostate Adenocarcinoma 46 0.023
940
ADR038 Adermatoglyphia 46 0.023
941
VSC047 Vascular Malformation 45 0.023
942
SMN008 Semantic Dementia 44 0.023
943
HYP085 Hypothalamic Disease 44 0.023
944
DDN006 Duodenitis 42 0.023
945
MLL001 Molluscum Contagiosum 42 0.023
946
CPL007 Capillary Malformation-Arteriovenous Malformation 40 0.023
947
NRC019 Neurocutaneous Melanosis, Somatic 39 0.023
948
c CHR579 Chiari Malformation Type Ii 37 0.023
949
PRR013 Prurigo Nodularis 35 0.023
950
PHB003 Phobia, Specific 32 0.023
951
HRN022 Hearing Loss/deafness 26 0.023
952
CRB087 Cerebral Arteriosclerosis 21 0.023
953
c SCH064 Schizophrenia 10 19 0.023
954
VSC009 Vascular Skin Disease 19 0.023
955
c PNC070 Panic Disorder 2 14 0.023
956
MTC007 Mitochondrial Complex I Deficiency 61 0.022
957
NRR002 Norrie Disease 60 0.022
958
HYP042 Hypochondroplasia 57 0.022
959
P BDD001 Budd-Chiari Syndrome 56 0.022
960
WLF001 Wolff-Parkinson-White Syndrome 56 0.022
961
c BCT007 Bacterial Meningitis 54 0.022
962
P GLT023 Glutaric Acidemia Iic 52 0.022
963
ASP001 Asperger Syndrome 50 0.022
964
P KRT007 Keratoconus 48 0.022
965
SBP001 Subependymal Giant Cell Astrocytoma 47 0.022
966
c CNG206 Congenital Disorder of Glycosylation, Type Ie 47 0.022
967
MYX001 Myxopapillary Ependymoma 39 0.022
968
SPS005 Spastic Hemiplegia 38 0.022
969
CHR073 Choreatic Disease 37 0.022
970
c PNT034 Pontocerebellar Hypoplasia, Type 2e 34 0.022
971
PNN005 Panencephalitis, Subacute Sclerosing 33 0.022
972
PST086 Posterior Cortical Atrophy 32 0.022
973
c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 30 0.022
974
P MSC002 Muscular Dystrophy-Dystroglycanopathy 28 0.022
975
PST048 Postural Orthostatic Tachycardia Syndrome 27 0.022
976
PLY110 Polymicrogyria, Bilateral Temporooccipital 23 0.022
977
c RNG013 Ring Chromosome 18 20 0.022
978
c MNT246 Mental Retardation, Autosomal Dominant 38 20 0.022
979
ERL016 Early-Onset Lafora Body Disease 18 0.022
980
OLF001 Olfactory Nerve Disease 16 0.022
981
ACC002 Accommodative Spasm 15 0.022
982
MLT021 Multiple System Atrophy 70 0.022
983
URN008 Urinary Bladder Cancer 66 0.022
984
LSH001 Leishmaniasis 66 0.022
985
CRV047 Cervical Cancer, Somatic 65 0.022
986
P RBN001 Rubinstein-Taybi Syndrome 64 0.022
987
P HYP098 Hypereosinophilic Syndrome 63 0.022
988
c SPN225 Spondyloarthropathy 1 62 0.022
989
P LYM025 Lymphedema 61 0.022
990
c SYS004 Systemic Mastocytosis 60 0.022
991
RBR001 Roberts Syndrome 60 0.022
992
SPT004 Septic Arthritis 60 0.022
993
CNT097 Central Hypoventilation Syndrome, Congenital 59 0.022
994
LYM021 Lymphadenitis 58 0.022
995
ADR005 Adrenal Carcinoma 57 0.022
996
P HYP613 Hypophosphatemic Rickets 57 0.022
997
BLD034 Bile Duct Carcinoma 56 0.022
998
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.022
999
P DBT005 Diabetes Insipidus 53 0.022
1000
P SML016 Small Intestine Cancer 52 0.022
1001
QDR001 Quadriplegia 52 0.022
1002
P APL006 Aplasia Cutis Congenita 52 0.022
1003
c PRK031 Parkinson Disease 1 51 0.022
1004
P HML001 Hemolytic-Uremic Syndrome 51 0.022
1005
CLR109 Colorectal Adenocarcinoma 51 0.022
1006
INT051 Intussusception 50 0.022
1007
OPT003 Opiate Dependence 50 0.022
1008
BCL002 B Cell Deficiency 49 0.022
1009
BRN032 Brain Glioma 48 0.022
1010
ANT011 Antisocial Personality Disorder 47 0.022
1011
UPP004 Upper Respiratory Tract Disease 46 0.022
1012
CHR563 Chronic Eosinophilic Leukemia 46 0.022
1013
CYS008 Cystic Echinococcosis 46 0.022
1014
RLP003 Relapsing Fever 45 0.022
1015
PRM003 Premature Ejaculation 45 0.022
1016
VTM002 Vitamin B12 Deficiency 44 0.022
1017
c SVR056 Severe Hemophilia a 43 0.022
1018
CRN025 Corneal Dystrophy 42 0.022
1019
RTR008 Root Resorption 42 0.022
1020
c SCN006 Secondary Syphilis 41 0.022
1021
c OST131 Osteopetrosis, Autosomal Dominant 2 41 0.022
1022
DYS015 Dysentery 40 0.022
1023
CND005 Cone Dystrophy 39 0.022
1024
c CNG033 Congenital Syphilis 39 0.022
1025
PRL019 Prolidase Deficiency 38 0.022
1026
MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 36 0.022
1027
VNT001 Ventilation Pneumonitis 35 0.022
1028
FNC006 Functional Gastric Disease 32 0.022
1029
CRV069 Cervix Disease 32 0.022
1030
GST039 Gastroduodenitis 31 0.022
1031
PRS037 Periostitis 30 0.022
1032
FNC005 Functional Colonic Disease 27 0.022
1033
P APL001 Aplastic Anemia 75 0.021
1034
LPT001 Leptospirosis 62 0.021
1035
MXD005 Mixed Connective Tissue Disease 62 0.021
1036
P DMN033 Dementia, Frontotemporal 62 0.021
1037
KRN002 Kearns-Sayre Syndrome 61 0.021
1038
DRR010 Darier Disease 60 0.021
1039
P PLC011 Pilocytic Astrocytoma 60 0.021
1040
P VNT002 Ventricular Septal Defect 60 0.021
1041
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 58 0.021
1042
BTN003 Biotinidase Deficiency 57 0.021
1043
PRR007 Perry Syndrome 55 0.021
1044
PLN006 Poland Syndrome 54 0.021
1045
P SLD010 Sialidosis, Type I 54 0.021
1046
THR016 Thrombophlebitis 53 0.021
1047
BCT002 Bacterial Vaginosis 52 0.021
1048
THR013 Thoracic Outlet Syndrome 50 0.021
1049
P MTH008 Methylmalonic Acidemia 49 0.021
1050
HYP074 Hypersensitivity Vasculitis 48 0.021
1051
ECT026 Ectopic Pregnancy 48 0.021
1052
HYD002 Hydronephrosis 47 0.021
1053
SPR010 Sporotrichosis 47 0.021
1054
PLM017 Pulmonary Alveolar Microlithiasis 46 0.021
1055
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 45 0.021
1056
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 45 0.021
1057
MCR037 Macroglossia 45 0.021
1058
P SDR002 Siderosis 44 0.021
1059
MYC005 Myocardial Stunning 44 0.021
1060
CRB033 Cerebral Degeneration 44 0.021
1061
P RTN014 Retinal Artery Occlusion 44 0.021
1062
ISB001 Isobutyryl-Coa Dehydrogenase Deficiency 44 0.021
1063
EST005 Esotropia 41 0.021
1064
BDY001 Body Dysmorphic Disorder 39 0.021
1065
PRX034 Peroxisome Disorders 39 0.021
1066
c HYP072 Hypersensitivity Reaction Type Iii Disease 38 0.021
1067
INT011 Interstitial Emphysema 38 0.021
1068
HYP064 Hypogonadotropism 37 0.021
1069
OCL011 Ocular Motility Disease 37 0.021
1070
MTC005 Mitochondrial Metabolism Disease 36 0.021
1071
P HYP111 Hyperprolinemia 33 0.021
1072
c ALZ043 Alzheimer's Disease 15 32 0.021
1073
CRN246 Cranioosteoarthropathy 31 0.021
1074
ART110 Arteritic Anterior Ischemic Optic Neuropathy 31 0.021
1075
c MNT149 Mental Retardation, X-Linked 3 29 0.021
1076
c BLP015 Blepharospasm, Primary Benign 26 0.021
1077
c ATX025 Ataxia, Spastic, 5, Autosomal Recessive 25 0.021
1078
MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 24 0.021
1079
CRD165 Ceroid Lipofuscinosis, Neuronal, Kufs Type, Adult Onset 21 0.021
1080
PTZ001 Peutz-Jeghers Syndrome 71 0.021
1081
c MLT136 Multiple Endocrine Neoplasia 1 69 0.021
1082
P AGM001 Agammaglobulinemia 64 0.021
1083
GLL018 Gallbladder Cancer 63 0.021
1084
APH001 Aphthous Stomatitis 62 0.021
1085
VNW001 Von Willebrand's Disease 61 0.021
1086
DRM014 Dermatofibrosarcoma Protuberans 61 0.021
1087
P SPN052 Spondyloarthropathy 60 0.021
1088
CHL123 Chlamydia 60 0.021
1089
TNG003 Tongue Cancer 58 0.021
1090
FCT006 Factor V Deficiency 57 0.021
1091
P HYP035 Hypophosphatasia 57 0.021
1092
CNG008 Congenital Ichthyosiform Erythroderma 56 0.021
1093
VSC003 Visceral Leishmaniasis 56 0.021
1094
P HMR012 Hemorrhagic Fever 56 0.021
1095
c HRD002 Hereditary Angioedema 55 0.021
1096
PLS007 Plasmodium Falciparum Malaria 55 0.021
1097
VSC002 Vascular Dementia 54 0.021
1098