Search results for "generalized epilepsy"

The MalaCard for "generalized epilepsy" has been retired.
Searching MalaCards for entries containing "generalized epilepsy"

1757 hits were found for 'generalized epilepsy'

# Family MCID Name MIFTS Score
1
c EPL100 Epilepsy, Generalized, with Febrile Seizures Plus, Type 5 47 5.755
2
P IDP010 Idiopathic Generalized Epilepsy 61 4.515
3
GNR006 Generalized Epilepsy and Paroxysmal Dyskinesia 20 4.083
4
c EPL084 Epilepsy, Idiopathic Generalized 11 23 3.862
5
c EPL086 Epilepsy, Idiopathic Generalized 9 24 3.638
6
c EPL142 Epilepsy Idiopathic Generalized 8 20 3.539
7
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 47 3.424
8
P DRV001 Dravet Syndrome 68 3.413
9
c EPL067 Epilepsy, Generalized, with Febrile Seizures Plus, Type 2 35 3.261
10
c EPL041 Epilepsy, Generalized, with Febrile Seizures Plus, Type 3 25 3.258
11
c EPL120 Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 39 3.254
12
c FBR082 Febrile Seizures, Familial, 3b 25 3.251
13
c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 20 3.248
14
c EPL137 Epilepsy, Childhood Absence 6 23 3.240
15
EPL101 Epilepsy, Idiopathic Generalized, Suscpetibility to, 12 19 3.234
16
c EPL094 Epilepsy, Juvenile Myoclonic 5 23 2.887
17
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 36 2.859
18
c EPL165 Epilepsy, Idiopathic Generalized 14 13 2.520
19
c EPL093 Epilepsy, Idiopathic Generalized 7 14 2.504
20
SCN011 Scn1a- Related Generalized Epilepsy with Febrile Seizures Plus 16 2.109
21
c EPL091 Epilepsy, Idiopathic Generalized 3 15 2.081
22
c EPL092 Epilepsy, Idiopathic Generalized 2 13 2.076
23
c EPL090 Epilepsy, Idiopathic Generalized 5 13 2.063
24
c STX002 Stx1b-Related Generalized Epilepsy with Febrile Seizures Plus 8 2.055
25
c SCN026 Scn9a-Related Generalized Epilepsy with Febrile Seizures Plus 9 2.048
26
SCN012 Scn1a-Related Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures 4 2.048
27
LNT008 Lentiginosis, Inherited Patterned 46 1.763
28
BNG063 Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy 3 1.468
29
c GBR002 Gabrd-Related Generalized Epilepsy with Febrile Seizures Plus 8 1.466
30
c GBR005 Gabrg2-Related Generalized Epilepsy with Febrile Seizures Plus 8 1.466
31
c SCN018 Scn1b-Related Generalized Epilepsy with Febrile Seizures Plus 8 1.466
32
P EPL164 Epilepsy 66 1.019
33
TMP001 Temporal Lobe Epilepsy 51 0.345
34
FCL014 Focal Epilepsy 56 0.331
35
P ENC018 Encephalopathy 59 0.265
36
P SZR006 Seizure Disorder 57 0.262
37
c CNT035 Central Nervous System Disease 59 0.248
38
MYC033 Myoclonus 41 0.228
39
P NRV007 Nervous System Disease 71 0.222
40
ANX002 Anxiety Disorder 69 0.220
41
MYC026 Myoclonus Epilepsy 33 0.207
42
GNR004 Generalized Anxiety Disorder 51 0.204
43
NRN002 Neuronitis 42 0.190
44
P FBR031 Febrile Seizures 52 0.182
45
P CHL002 Childhood Absence Epilepsy 56 0.177
46
CRB009 Cerebritis 38 0.136
47
RFL002 Reflex Epilepsy 28 0.127
48
STT001 Status Epilepticus 59 0.121
49
P INT063 Intellectual Disability 53 0.121
50
P ATX004 Ataxia 53 0.120
51
DSS008 Disease of Mental Health 55 0.109
52
LRN003 Learning Disability 51 0.104
53
CMP006 Complex Partial Epilepsy 32 0.104
54
P PST059 Pustular Psoriasis 35 0.101
55
ALR002 Al-Raqad Syndrome 36 0.101
56
P MYC023 Myoclonic Astatic Epilepsy 23 0.099
57
MDD011 Mood Disorder 61 0.097
58
P DYS154 Dystonia 64 0.097
59
P ENC004 Encephalitis 61 0.096
60
PSY004 Psychotic Disorder 67 0.096
61
P LKM002 Leukemia 70 0.096
62
P MYC068 Myoclonic Epilepsy of Infancy 35 0.094
63
ERL001 Early Myoclonic Encephalopathy 50 0.094
64
SLP005 Sleep Disorder 53 0.092
65
LNN001 Lennox-Gastaut Syndrome 54 0.092
66
HMP005 Hemiplegia 54 0.090
67
DMN002 Dementia 64 0.089
68
P PRD008 Periodontitis 46 0.088
69
P LPD010 Lipodystrophy 52 0.088
70
STR067 Stroke, Ischemic 77 0.088
71
VSL002 Visual Epilepsy 32 0.087
72
P SCH015 Schizophrenia 76 0.086
73
END072 Endotheliitis 42 0.086
74
P MYP004 Myopathy 67 0.084
75
PCK002 Pick Disease 67 0.083
76
P THY032 Thyroiditis 54 0.083
77
CNT069 Centrotemporal Epilepsy 40 0.083
78
P JVN007 Juvenile Absence Epilepsy 37 0.082
79
P HPT021 Hepatitis 70 0.082
80
P SPS003 Spastic Diplegia 53 0.081
81
P HRT032 Heart Disease 76 0.080
82
c CNG012 Congenital Generalized Lipodystrophy 45 0.080
83
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 33 0.079
84
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 60 0.078
85
P MSC005 Muscular Dystrophy 64 0.078
86
WTH001 Withdrawal Disorder 41 0.077
87
c EPL121 Epilepsy, Progressive Myoclonic 1a 42 0.077
88
MNT002 Mental Depression 54 0.076
89
HDC001 Headache 54 0.076
90
CHL071 Child Syndrome 58 0.074
91
WST001 West Syndrome 61 0.074
92
KDS001 Kid Syndrome 53 0.073
93
PLY024 Polymicrogyria 36 0.072
94
AND005 Androgen Insensitivity Syndrome, Mild 16 0.072
95
EPL131 Epilepsy, Pyridoxine-Dependent 32 0.071
96
BRT030 Birth Defects 43 0.070
97
GNG013 Gingivitis 60 0.069
98
ACR041 Acromelic Frontonasal Dysostosis 46 0.069
99
ADJ001 Adjustment Disorder 38 0.069
100
HYP231 Hypothalamic Hamartomas 34 0.069
101
c EPL070 Epilepsy, Progressive Myoclonic 2b 53 0.068
102
RTN023 Retinitis 49 0.068
103
PRD011 Proud Syndrome 42 0.067
104
P AXN010 Axenfeld-Rieger Syndrome, Type 3 54 0.067
105
BRN071 Brain Injury 52 0.067
106
EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 44 0.067
107
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.067
108
ISC004 Ischemia 59 0.066
109
ATH003 Atherosclerosis 62 0.066
110
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.066
111
P GLM045 Glioma 58 0.066
112
P TRM003 Tremor 54 0.065
113
SPS057 Spasticity 42 0.065
114
EPL095 Epilepsy with Myoclonic Absences 15 0.065
115
P OBS005 Obesity 93 0.065
116
CND002 Conduct Disorder 56 0.064
117
ATN002 Autonomic Nervous System Disease 47 0.064
118
ATT013 Attention Deficit-Hyperactivity Disorder 68 0.063
119
c EPL133 Epilepsy, Juvenile Absence 1 26 0.063
120
HDN002 Head Injury 45 0.063
121
DRG001 Drug Psychosis 40 0.063
122
P PRS038 Personality Disorder 61 0.063
123
BRN028 Brain Cancer 70 0.063
124
APH002 Aphasia 53 0.063
125
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 40 0.062
126
P ART022 Arthritis 75 0.062
127
UNV001 Unverricht-Lundborg Syndrome 40 0.061
128
P PNC025 Panic Disorder 60 0.061
129
P NRV006 Nervous System Cancer 62 0.061
130
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.061
131
P LYM118 Lymphoma 70 0.061
132
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 25 0.061
133
P LPS004 Lupus Erythematosus 63 0.061
134
c BNG079 Benign Adult Familial Myoclonic Epilepsy 26 0.060
135
P ANG001 Angelman Syndrome 61 0.060
136
ADG002 Audiogenic Seizures 25 0.060
137
P NRP001 Neuropathy 60 0.060
138
EPL143 Epilepsy, Progressive Myoclonic 3, with or Without Intracellular Inclusions 26 0.060
139
ALN001 Aland Island Eye Disease 45 0.060
140
TTN003 Tetanus 61 0.060
141
NRM005 Neuromuscular Disease 57 0.060
142
P PRP019 Peripheral Nervous System Disease 54 0.059
143
ADR009 Adrenal Cortex Disease 41 0.059
144
MVM001 Movement Disease 54 0.059
145
ANR040 Aneurysm 57 0.059
146
FBR019 Fibromatosis 42 0.059
147
SPC010 Speech and Communication Disorders 46 0.059
148
RSP006 Respiratory System Disease 62 0.058
149
P CRD011 Cardiomyopathy 67 0.058
150
P AST005 Asthma 82 0.058
151
P BNG006 Benign Familial Neonatal Epilepsy 33 0.058
152
P PHT010 Photoparoxysmal Response 1 37 0.057
153
AMS002 Amish Infantile Epilepsy Syndrome 35 0.057
154
PRT004 Partial Sensory Epilepsy 12 0.057
155
P MYC007 Myocardial Infarction 79 0.057
156
P MSC033 Muscle Disorders 52 0.057
157
GLT021 Glutaricaciduria, Type I 48 0.057
158
c MYC070 Myoclonic Epilepsy, Juvenile 1 24 0.057
159
P MCR010 Microcephaly 58 0.057
160
AYM001 Ayme-Gripp Syndrome 45 0.056
161
PHY002 Physical Disorder 44 0.056
162
P PNC044 Pancreatitis 60 0.056
163
HYP077 Hypertrichosis 52 0.056
164
WBR001 Weber Syndrome 37 0.056
165
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 37 0.056
166
PRP027 Peripheral Vascular Disease 69 0.055
167
HPT074 Hepatic Adenoma, Somatic 51 0.055
168
PRS047 Prostatitis 56 0.055
169
HV1006 Hiv-1 82 0.055
170
P ATS007 Autism Spectrum Disorder 64 0.055
171
P CRB042 Cerebellar Ataxia 64 0.055
172
c MYC048 Myoclonic Epilepsy, Infantile, Familial 25 0.055
173
SKN016 Skin Disease 68 0.054
174
OPT006 Optic Nerve Disease 51 0.054
175
OBS002 Obsessive-Compulsive Disorder 66 0.054
176
NTR005 Nutritional Deficiency Disease 39 0.054
177
SPC003 Specific Developmental Disorder 40 0.054
178
c BNG023 Benign Familial Infantile Epilepsy 41 0.053
179
c ERL003 Early Onset Absence Epilepsy 23 0.053
180
c EPL132 Epilepsy, Childhood Absence 2 23 0.053
181
P HYP265 Hypotonia 39 0.053
182
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.053
183
P RTT002 Rett Syndrome 78 0.053
184
MLR004 Malaria 79 0.053
185
HYP266 Hypoxia 55 0.053
186
BLD053 Blood Platelet Disease 46 0.053
187
P BPL003 Bipolar Disorder 62 0.052
188
LND001 Landau-Kleffner Syndrome 36 0.052
189
ALL026 Allergic Hypersensitivity Disease 53 0.052
190
P MSC003 Muscular Atrophy 51 0.052
191
FST001 Foster-Kennedy Syndrome 34 0.052
192
SXL003 Sexual Disorder 47 0.052
193
GLB003 Globe Disease 35 0.052
194
c SYS001 Systemic Lupus Erythematosus 87 0.052
195
MSC004 Muscle Tissue Disease 36 0.051
196
P HRP006 Herpes Simplex 65 0.051
197
P MTC069 Mitochondrial Disorders 52 0.051
198
P EPL122 Epilepsy, Familial Focal, with Variable Foci 28 0.051
199
P INF038 Influenza 74 0.051
200
SYN036 Syncope 47 0.051
201
SPC005 Speech Disorder 43 0.051
202
VND001 Vein Disease 52 0.051
203
P CRN211 Coronary Artery Disease 75 0.051
204
ONC002 Onchocerciasis 50 0.051
205
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.050
206
ATN005 Autonomic Dysfunction 45 0.050
207
HYP066 Hyperglycemia 60 0.050
208
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 45 0.050
209
HNM002 Hinman Syndrome 25 0.050
210
P RHM011 Rheumatoid Arthritis 88 0.050
211
P EPS003 Episodic Ataxia 56 0.050
212
CYS005 Cysticercosis 52 0.049
213
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.049
214
PRV006 Pervasive Developmental Disorder 50 0.049
215
P HYP086 Hypothyroidism 65 0.049
216
GNG004 Ganglioglioma 49 0.049
217
LMB024 Limbic Encephalitis 36 0.049
218
PRP016 Paraplegia 49 0.049
219
VSC007 Vascular Disease 67 0.049
220
c EPL148 Epilepsy, Myoclonic, Familial Adult, 2 24 0.048
221
c CRN214 Coronary Heart Disease 5 23 0.048
222
c EPL155 Epilepsy, Progressive Myoclonic, 8 22 0.048
223
ISC006 Ischemic Heart Disease 68 0.048
224
PRT036 Peritonitis 62 0.048
225
TRM010 Traumatic Brain Injury 52 0.048
226
c EPL134 Epilepsy, Progressive Myoclonic 7 23 0.048
227
EPL071 Epilepsy, Nocturnal Frontal Lobe, Type 4 22 0.048
228
P ADN016 Adenocarcinoma 69 0.048
229
c EPL141 Epilepsy, Progressive Myoclonic 5 24 0.048
230
P SPN046 Spinal Muscular Atrophy 63 0.048
231
RDN001 Reading Disorder 39 0.047
232
P PRP029 Porphyria 58 0.047
233
P MNN013 Meningitis 65 0.047
234
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.047
235
P CTR002 Cataract 57 0.047
236
CNV002 Conversion Disorder 42 0.047
237
c SZR007 Seizures, Benign Familial Infantile, 3 42 0.047
238
MYC069 Myoclonic-Astastic Epilepsy 18 0.047
239
P PNM007 Pneumonia 66 0.047
240
P ENC008 Encephalocele 47 0.047
241
JVN026 Jeavons Syndrome 14 0.047
242
LCH003 Lichen Nitidus 35 0.047
243
c PND001 Pain Disorder 55 0.046
244
ADT003 Auditory System Disease 51 0.046
245
c CNG031 Congenital Nervous System Abnormality 39 0.046
246
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.046
247
P INF032 Infertility 61 0.046
248
PHR003 Pharyngitis 58 0.046
249
CTS003 Coats Disease 57 0.046
250
P ECL001 Eclampsia 54 0.046
251
HMM003 Hemimegalencephaly 45 0.046
252
P HMP006 Hemiplegic Migraine 44 0.046
253
P AST007 Astrocytoma 65 0.045
254
LKC003 Leukocyte Disease 47 0.045
255
GLC008 Glucose Metabolism Disease 47 0.045
256
EPL108 Epilepsy, Progressive Myoclonic 4, with or Without Renal Failure 25 0.045
257
EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 23 0.045
258
ART021 Arteriosclerosis 59 0.045
259
HYP056 Hypoglycemia 61 0.045
260
ATM053 Autoimmune Disease 2 19 0.045
261
KHL003 Kohlschutter-Tonz Syndrome 37 0.045
262
BNS002 Bone Structure Disease 36 0.045
263
P CLC005 Celiac Disease 67 0.045
264
ETN001 Eating Disorder 60 0.045
265
c CRN175 Coronary Heart Disease 4 21 0.045
266
P SLP006 Sleep Apnea 61 0.045
267
TTH006 Tooth Disease 52 0.045
268
PRM097 Primary Immunodeficiency Disease 61 0.045
269
RPR002 Reproductive System Disease 46 0.044
270
c TRC078 Trichohepatoenteric Syndrome 2 31 0.044
271
c EPL145 Epilepsy, Progressive Myoclonic 6 27 0.044
272
P BNG026 Benign Neonatal Seizures 40 0.044
273
P ALC004 Alcohol Abuse 60 0.044
274
BLD054 Blood Protein Disease 40 0.044
275
P LCT001 Lactic Acidosis 52 0.044
276
SPN369 Spinal Disease 41 0.044
277
PRS123 Persistent Generalized Lymphadenopathy 34 0.044
278
c EPL154 Epilepsy, Progressive Myoclonic, 9 22 0.044
279
GST045 Gastroenteritis 60 0.044
280
DWN001 Down Syndrome 65 0.043
281
CSY001 C Syndrome 49 0.043
282
c CRN172 Coronary Heart Disease 3 21 0.043
283
IMM136 Immune System Disease 50 0.043
284
P PLN008 Peeling Skin Syndrome 47 0.043
285
BRN080 Brain Ischemia 41 0.043
286
FCL011 Facial Nerve Disease 38 0.043
287
GNC005 Geniculate Ganglionitis 31 0.043
288
P SCH018 Schizencephaly 51 0.043
289
SMP001 Simple Partial Epilepsy 13 0.043
290
P CTS001 Cutis Laxa 59 0.043
291
P ALZ034 Alzheimer Disease 93 0.043
292
ATR060 Atrial Standstill, Digenic 53 0.043
293
MYC071 Myoclonic-Atonic Epilepsy 19 0.042
294
OBS015 Obesity, Hyperphagia, and Developmental Delay 46 0.042
295
P OST002 Osteoporosis 64 0.042
296
P EXN002 Exanthem 57 0.042
297
P CRN178 Coronary Heart Disease 6 24 0.042
298
P HYP024 Hypoparathyroidism 52 0.042
299
P ATR011 Atrial Fibrillation 64 0.042
300
RHM027 Rheumatic Disease 57 0.042
301
PRP021 Peripheral Nervous System Neoplasm 50 0.042
302
VSC008 Vascular Hemostatic Disease 33 0.042
303
MTC057 Mitochondrial Recessive Ataxia Syndrome 45 0.041
304
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 25 0.041
305
EPL150 Epilepsy, Familial Temporal Lobe, 7 17 0.041
306
EPL115 Epilepsy, Familial Temporal Lobe, 2 16 0.041
307
CNT098 Central Core Disease 66 0.041
308
P GLB002 Glioblastoma 66 0.041
309
CRB031 Cerebral Arterial Disease 31 0.041
310
ADL002 Adult Syndrome 53 0.041
311
P MYS003 Myasthenia Gravis 65 0.041
312
c BLD124 Bleeding Disorder, Platelet-Type, 11 42 0.041
313
P FRG001 Fragile X Syndrome 68 0.041
314
c STR089 Striatal Degeneration, Autosomal Dominant 2 30 0.041
315
c ATM007 Autoimmune Disease of Central Nervous System 28 0.041
316
INS001 Insulinoma 59 0.041
317
CRB045 Cerebellar Hypoplasia 48 0.041
318
OCL009 Ocular Cancer 62 0.041
319
NSD001 Nose Disease 52 0.041
320
ALX002 Alexithymia 37 0.041
321
P MYL005 Myelofibrosis 67 0.041
322
CRB037 Cerebral Palsy 54 0.041
323
VSC011 Vasculitis 62 0.041
324
P ESN007 Eosinophilia 61 0.041
325
INS024 Insulin-Like Growth Factor I 74 0.041
326
P BLD051 Blood Coagulation Disease 45 0.041
327
HYP080 Hypogonadism 54 0.040
328
BHR001 Behr Syndrome 44 0.040
329
c FBR072 Febrile Seizures, Familial, 11 28 0.040
330
P PRK057 Parkinson Disease, Late-Onset 72 0.040
331
P NRC002 Narcolepsy 62 0.040
332
ATS001 Autistic Disorder 59 0.040
333
HYP037 Hyperhomocysteinemia 50 0.040
334
OBS061 Obstructive Sleep Apnea 66 0.040
335
SDD007 Sudden Cardiac Death 46 0.040
336
P OVR042 Ovarian Cancer 75 0.040
337
c ACT075 Acute Myocardial Infarction 60 0.040
338
SCR035 Sacral Agenesis with Vertebral Anomalies 33 0.040
339
P LSS002 Lissencephaly 49 0.039
340
P RTN008 Retinitis Pigmentosa 79 0.039
341
LPD008 Lipid Metabolism Disorder 58 0.039
342
PRD007 Periodontal Disease 43 0.039
343
P LYM026 Lymphoblastic Leukemia 60 0.039
344
PST028 Post-Traumatic Stress Disorder 57 0.039
345
GST050 Gastrointestinal System Disease 54 0.039
346
PRM008 Parametritis 27 0.039
347
c EPL136 Epilepsy, Childhood Absence 5 19 0.039
348
c SCN015 Scn1a-Related Severe Myoclonic Epilepsy in Infancy 16 0.039
349
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 47 0.039
350
TRN012 Transient Global Amnesia 39 0.039
351
P INT068 Intestinal Disease 61 0.039
352
P HMP007 Hemophilia 56 0.039
353
c RCS002 Recessive Dystrophic Epidermolysis Bullosa 52 0.039
354
P GRV001 Graves' Disease 61 0.039
355
c MCL062 Mucolipidosis Ii Alpha/beta 60 0.039
356
WLL006 Wells Syndrome 56 0.039
357
LPD004 Lipoid Nephrosis 48 0.039
358
CRB025 Carbohydrate Metabolic Disorder 47 0.039
359
DWR001 Dwarfism 46 0.039
360
P PRD006 Prader-Willi Syndrome 63 0.039
361
APR001 Apraxia 48 0.039
362
P DYS021 Dysautonomia 47 0.039
363
P MYT002 Myotonic Dystrophy 47 0.039
364
PLM010 Pulmonary Edema 56 0.039
365
PCH002 Pachygyria 36 0.039
366
MLG120 Malignant Migrating Partial Seizures of Infancy 30 0.039
367
ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 15 0.039
368
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.038
369
P DRR001 Diarrhea 51 0.038
370
P PNC035 Pancreatic Cancer 85 0.038
371
ALP008 Alopecia 55 0.038
372
P PLY006 Polydactyly 55 0.038
373
P GLM007 Glomerulonephritis 56 0.038
374
P MWT001 Mowat-Wilson Syndrome 46 0.038
375
THN007 Thinking Seizures 11 0.038
376
URN009 Urinary System Disease 53 0.037
377
P URF003 Urofacial Syndrome 1 52 0.037
378
FML039 Female Reproductive System Disease 48 0.037
379
MYT011 Myotonia 40 0.037
380
P PRC019 Precocious Puberty 51 0.037
381
HYP043 Hyperandrogenism 48 0.037
382
MGL016 Megaloblastic Anemia-1, Finnish Type 46 0.037
383
P CRN035 Cranial Nerve Palsy 43 0.037
384
CRB004 Cerebral Artery Occlusion 46 0.037
385
BCK001 Becker Muscular Dystrophy 68 0.037
386
EXF001 Exfoliation Syndrome 57 0.037
387
P CRB088 Cerebral Atrophy 42 0.037
388
P CRD132 Cardiac Conduction Defect 40 0.037
389
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 34 0.037
390
BNF002 Bone Fracture 47 0.037
391
MLR007 Male Reproductive System Disease 37 0.037
392
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.037
393
MGL013 Megalencephaly 51 0.037
394
URB001 Urbach-Wiethe Disease 48 0.037
395
ANG049 Angioedema Induced by Ace Inhibitors 35 0.037
396
P LKD001 Leukodystrophy 58 0.036
397
P RSP003 Respiratory Failure 70 0.036
398
CRD119 Cardiac Arrest 63 0.036
399
RST001 Restless Legs Syndrome 54 0.036
400
PMP001 Pemphigus 49 0.036
401
PRM025 Primary Bacterial Infectious Disease 43 0.036
402
CNS004 Constipation 57 0.036
403
P ENC011 Encephalomyopathy 34 0.036
404
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 33 0.036
405
MNK001 Menkes Disease 61 0.036
406
P TXP001 Toxoplasmosis 60 0.036
407
MDN008 Median Arcuate Ligament Syndrome 29 0.036
408
P AMY004 Amyloidosis 64 0.036
409
ADM013 Adamantinoma of Long Bones 59 0.036
410
c HRD010 Hereditary Spastic Paraplegia 65 0.036
411
P HYP263 Hypersomnia 40 0.036
412
P ESP024 Esophagitis 62 0.036
413
PRT014 Protein S Deficiency 52 0.036
414
GDS001 Good Syndrome 45 0.036
415
c BSL007 Basal Cell Carcinoma 64 0.036
416
ATM012 Autoimmune Disease of Blood 37 0.036
417
P SNS014 Sinusitis 60 0.035
418
DRG003 Drug Dependence 53 0.035
419
BRN106 Burns 52 0.035
420
P GNR027 Generalized Peeling Skin Syndrome 22 0.035
421
P BRG001 Brugada Syndrome 59 0.035
422
BRD001 Brody Myopathy 49 0.035
423
PRV004 Periventricular Leukomalacia 48 0.035
424
ADL051 Adolescence-Adult Electroclinical Syndrome 22 0.035
425
c FML023 Familial Hemiplegic Migraine 55 0.035
426
c SZR008 Seizures, Benign Neonatal, 1 33 0.035
427
MNT121 Mental Retardation, X-Linked Syndromic, Christianson Type 30 0.035
428
c EPL144 Epilepsy, Progressive Myoclonic 1b 19 0.035
429
c EPL147 Epilepsy, Myoclonic, Familial Adult, 5 17 0.035
430
EPL152 Epilepsy, Familial Temporal Lobe, 8 14 0.035
431
BNG081 Benign Childhood Occipital Epilepsy, Panayiotopoulos Type 10 0.035
432
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 55 0.035
433
SNS023 Sensory System Cancer 46 0.035
434
P EHL001 Ehlers-Danlos Syndrome 61 0.035
435
ADN018 Adenoma 59 0.035
436
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 42 0.035
437
IMP003 Impaired Renal Function Disease 37 0.035
438
MRG013 Mirage Syndrome 26 0.035
439
P THR014 Thrombocytopenia 64 0.035
440
OCL006 Ocular Hypertension 48 0.035
441
CRN017 Coronary Thrombosis 48 0.035
442
SKN023 Skin Tag 46 0.035
443
c AST039 Asthma 2 31 0.035
444
P LGH007 Leigh Syndrome 70 0.035
445
P NMN002 Niemann-Pick Disease 63 0.035
446
P ANT006 Antiphospholipid Syndrome 58 0.035
447
CRT012 Cortical Blindness 36 0.035
448
FNT004 Fainting 33 0.035
449
PHN003 Phenylketonuria 73 0.034
450
GLM004 Gliomatosis Cerebri 53 0.034
451
P HYP083 Hypopituitarism 52 0.034
452
P NRN021 Neuronal Ceroid Lipofuscinosis 58 0.034
453
SSM001 Sesame Syndrome 53 0.034
454
GST053 Gastric Cancer 77 0.034
455
ATP002 Atopy 63 0.034
456
P ATP001 Atopic Dermatitis 62 0.034
457
VRL011 Viral Infectious Disease 59 0.034
458
PRP080 Peripheral Artery Disease 36 0.034
459
LYM095 Lymphangiomatosis 33 0.034
460
NWC001 Newcastle Disease 54 0.034
461
C3D001 C3 Deficiency 53 0.034
462
c INH020 Inherited Metabolic Disorder 49 0.034
463
CRB150 Cerebral Creatine Deficiency Syndrome 2 48 0.034
464
TNS007 Taeniasis 42 0.034
465
CRN031 Cranial Nerve Disease 40 0.034
466
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 29 0.034
467
PRT037 Pertussis 64 0.034
468
P RTN016 Retinal Degeneration 54 0.034
469
DRG011 Drug Addiction 51 0.034
470
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 47 0.034
471
LPM004 Lipoma 58 0.033
472
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.033
473
P AML002 Amelogenesis Imperfecta 43 0.033
474
VTM003 Vitamin Metabolic Disorder 33 0.033
475
CNG034 Congestive Heart Failure 71 0.033
476
ALC007 Alcohol Dependence 65 0.033
477
c HMP029 Hemophilia a 64 0.033
478
WLL001 Williams-Beuren Syndrome 61 0.033
479
SKL017 Skeletal Dysplasias 45 0.033
480
P ATX010 Ataxia Neuropathy Spectrum 28 0.033
481
P STR020 Strabismus 53 0.033
482
THY030 Thyroid Gland Disease 51 0.033
483
MRC001 Marchiafava Bignami Disease 50 0.033
484
P SHR029 Short Syndrome 60 0.033
485
CRB090 Cerebral Hypoxia 48 0.033
486
ACD009 Acid-Labile Subunit, Deficiency of 48 0.033
487
P LVR013 Liver Disease 72 0.033
488
P HMR003 Hemorrhagic Disease 57 0.033
489
c THR092 Thrombophilia Due to Thrombin Defect 56 0.033
490
ATM052 Autoimmune Disease 1 28 0.033
491
ATM054 Autoimmune Disease 3 18 0.033
492
CNT047 Contact Dermatitis 62 0.032
493
P SYP003 Syphilis 53 0.032
494
BNM001 Bone Marrow Cancer 52 0.032
495
P LTR001 Lateral Sclerosis 52 0.032
496
DNT012 Dental Caries 46 0.032
497
BND014 Bone Development Disease 42 0.032
498
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 36 0.032
499
ATM055 Autoimmune Disease 4 18 0.032
500
c NRF018 Neurofibromatosis, Type 1 68 0.032
501
PPL022 Papilloma 55 0.032
502
GNG012 Gingival Overgrowth 52 0.032
503
STT041 Stuttering 48 0.032
504
XNT003 Xanthomatosis 47 0.032
505
AMN006 Aminoaciduria 42 0.032
506
CNN002 Cannabis Abuse 41 0.032
507
P OLG002 Oligodendroglioma 55 0.032
508
c VRL007 Viral Encephalitis 54 0.032
509
P DBT083 Diabetes Mellitus, Permanent Neonatal 53 0.032
510
CMR002 Coumarin Resistance 48 0.032
511
P MTC004 Mitochondrial Encephalomyopathy 40 0.032
512
ARC002 Arachnoiditis 38 0.032
513
TXC011 Toxocariasis 37 0.032
514
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 27 0.032
515
INF033 Infancy Electroclinical Syndrome 22 0.032
516
CHL058 Childhood Electroclinical Syndrome 20 0.032
517
MYL009 Myelodysplastic Syndrome 74 0.032
518
P LPR003 Leprosy 68 0.032
519
P MST009 Mastocytosis 54 0.032
520
TNP003 Tn Polyagglutination Syndrome, Somatic 44 0.032
521
c AST037 Asthma 1 31 0.032
522
XLN215 X-Linked Congenital Generalized Hypertrichosis 14 0.032
523
NRN005 Neuronal Ceroid-Lipofuscinoses 52 0.032
524
WLF002 Wolf-Hirschhorn Syndrome 45 0.032
525
INF042 Infant Epilepsy with Migrant Focal Crisis 4 0.032
526
P NTR004 Neutropenia 59 0.032
527
P GT001 Gout 58 0.032
528
P LYM033 Lymphoproliferative Syndrome 53 0.032
529
PST021 Postpartum Depression 49 0.032
530
P DYS005 Dyslexia 39 0.032
531
NSY001 N Syndrome 39 0.032
532
EYC003 Eye Accommodation Disease 26 0.032
533
P HLP001 Holoprosencephaly 62 0.032
534
GLB015 Glioblastoma Multiforme 62 0.032
535
P PSD015 Pseudohypoparathyroidism 44 0.032
536
CHR078 Chorioretinitis 41 0.032
537
c MNT226 Mental Retardation, Autosomal Dominant 31 20 0.032
538
PRP030 Purpura 59 0.032
539
TNS005 Tonsillitis 58 0.032
540
SNS001 Sensorineural Hearing Loss 57 0.032
541
CHR285 Chronic Myelomonocytic Leukemia 55 0.032
542
c BPL002 Bipolar I Disorder 47 0.032
543
SPL018 Splenomegaly 44 0.032
544
URT001 Urethritis 40 0.032
545
ACR002 Acrocapitofemoral Dysplasia 36 0.032
546
c MJR007 Major Affective Disorder 1 28 0.032
547
c MJR008 Major Affective Disorder 2 22 0.032
548
MLG056 Malignant Hyperthermia 57 0.031
549
ANG054 Angina Pectoris 51 0.031
550
HMN014 Human Immunodeficiency Virus Infectious Disease 49 0.031
551
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.031
552
c CLR085 Colorectal Cancer 1 42 0.031
553
P HYD006 Hydrocephalus 67 0.031
554
P HMN010 Hemangioma 60 0.031
555
P MGR003 Migraine with Aura 51 0.031
556
c FBR073 Febrile Seizures, Familial, 1 21 0.031
557
c FBR069 Febrile Seizures, Familial, 4 21 0.031
558
DCH001 Duchenne Muscular Dystrophy 80 0.031
559
P CHR071 Charcot-Marie-Tooth Disease 66 0.031
560
OCL069 Ocular Motor Apraxia 44 0.031
561
SXD001 Sex Differentiation Disease 40 0.031
562
CRT016 Carotid Artery Disease 55 0.031
563
c HYP073 Hypersensitivity Reaction Type Iv Disease 45 0.031
564
MLR002 Miliary Tuberculosis 42 0.031
565
c CRN177 Coronary Heart Disease 7 22 0.031
566
P MDL005 Medulloblastoma 77 0.031
567
P OVR049 Ovarian Disease 55 0.031
568
MYC002 Mycobacterium Avium Complex Disease 51 0.031
569
P SKN013 Skin Benign Neoplasm 46 0.031
570
TXC002 Toxic Encephalopathy 51 0.030
571
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 49 0.030
572
LKM006 Leukomalacia 42 0.030
573
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27 0.030
574
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 19 0.030
575
TBR024 Tuberous Sclerosis-1 65 0.030
576
ARC007 Arachnoid Cysts 38 0.030
577
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 29 0.030
578
CHR158 Charles Bonnet Syndrome 23 0.030
579
EPL074 Epilepsy, Hot Water, 1 7 0.030
580
MYC061 Myoclonic Epilepsy in Non-Progressive Encephalopathies 4 0.030
581
P THR015 Thrombophilia 59 0.030
582
ACT084 Acute Stress Disorder 40 0.030
583
HDG012 Hodgkin Lymphoma 73 0.030
584
BRC012 Brucellosis 65 0.030
585
BRN024 Bronchitis 63 0.030
586
P INT143 Interstitial Cystitis 57 0.030
587
CHN016 Cohen Syndrome 55 0.030
588
P PLY019 Polyneuropathy 54 0.030
589
THR100 Thrombocytopenic Purpura, Autoimmune 53 0.030
590
TCD001 Tic Disorder 49 0.030
591
MTB004 Metabolic Acidosis 48 0.030
592
HYP030 Hypoactive Sexual Desire Disorder 48 0.030
593
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 44 0.030
594
BSL008 Basal Ganglia Disease 43 0.030
595
c ACT059 Acute Maxillary Sinusitis 38 0.030
596
DSS010 Dissociative Disorder 35 0.030
597
c LNG044 Long Qt Syndrome 1 67 0.030
598
LVR012 Liver Cirrhosis 67 0.030
599
P FRD001 Friedreich Ataxia 62 0.030
600
c PRK031 Parkinson Disease 1 55 0.030
601
CHR029 Choroid Plexus Papilloma 55 0.030
602
P ACT074 Acute Lymphocytic Leukemia 55 0.030
603
ECH003 Echinococcosis 53 0.030
604
CYT008 Cytomegalovirus Infection 51 0.030
605
CHR003 Cherubism 50 0.030
606
CDS001 Cadasil 50 0.030
607
CRD002 Cri-Du-Chat Syndrome 48 0.030
608
DVL001 Developmental Coordination Disorder 37 0.030
609
c MJR004 Major Affective Disorder 4 18 0.030
610
P HYP060 Hyperinsulinism 59 0.029
611
P INT030 Intracranial Aneurysm 54 0.029
612
MGR028 Migraine with or Without Aura 1 50 0.029
613
SKL014 Skeletal Dysplasia 46 0.029
614
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42 0.029
615
ATS010 Autosomal Recessive Disease 41 0.029
616
ANG037 Angiomatosis 34 0.029
617
RMN002 Ramon Syndrome 31 0.029
618
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 31 0.029
619
P PLY011 Polycystic Ovary Syndrome 66 0.029
620
ART017 Aortic Disease 58 0.029
621
PRS042 Prostate Disease 52 0.029
622
KRT009 Keratosis 50 0.029
623
URT008 Urticaria Pigmentosa 38 0.029
624
c PLN017 Peeling Skin Syndrome 1 33 0.029
625
WLS001 Wilson Disease 72 0.029
626
P MTC003 Metachromatic Leukodystrophy 71 0.029
627
KWS002 Kawasaki Disease 70 0.029
628
OTT002 Otitis Media 66 0.029
629
P CNJ013 Conjunctivitis 65 0.029
630
P ALX003 Alexander Disease 64 0.029
631
P PLY018 Polycythemia 57 0.029
632
P PTS002 Ptosis 56 0.029
633
P HYP076 Hyperthyroidism 56 0.029
634
THR004 Thrombocytosis 55 0.029
635
IMG001 Image Syndrome 55 0.029
636
P CYS018 Cystitis 53 0.029
637
P END033 Endocarditis 52 0.029
638
MSC072 Muscle Cancer 51 0.029
639
URT004 Urethral Syndrome 48 0.029
640
NRL004 Neuroleptic Malignant Syndrome 45 0.029
641
DYS018 Dysostosis 44 0.029
642
GND003 Gonadal Disease 43 0.029
643
PRD003 Periodontosis 41 0.029
644
c CRN176 Coronary Heart Disease 9 20 0.029
645
P HRD011 Hereditary Spherocytosis 53 0.028
646
P TRN034 Transverse Myelitis 48 0.028
647
P PRN026 Porencephaly 47 0.028
648
NRS003 Neurosyphilis 41 0.028
649
MTS001 Mutism 40 0.028
650
PLS010 Plasma Protein Metabolism Disease 38 0.028
651
c ATM093 Autoimmune Disease of Peripheral Nervous System 35 0.028
652
CMB019 Combined Oxidative Phosphorylation Deficiency 8 31 0.028
653
WRT002 Writing Disorder 29 0.028
654
PRR019 Perioral Myoclonia with Absences 10 0.028
655
SML019 Smallpox 53 0.028
656
END030 End Stage Renal Failure 52 0.028
657
IMP004 Impetigo 42 0.028
658
c PLM022 Pulmonary Valve Insufficiency 38 0.028
659
NRD001 Neurodermatitis 34 0.028
660
c PLN021 Peeling Skin Syndrome 3 31 0.028
661
c CRN173 Coronary Heart Disease 8 20 0.028
662
c CNG021 Congenital Toxoplasmosis 46 0.028
663
CHR073 Choreatic Disease 40 0.028
664
c ATM075 Autoimmune Encephalitis 36 0.028
665
ADN022 Adenylosuccinase Deficiency 35 0.028
666
FTS001 Fetishism 26 0.028
667
RDS004 Rud Syndrome 13 0.028
668
IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 13 0.028
669
FLN005 Folinic Acid-Responsive Seizures 10 0.028
670
P CWD006 Cowden Syndrome 1 68 0.028
671
CRB011 Cerebrotendinous Xanthomatosis 60 0.028
672
SMT008 Smith-Magenis Syndrome 51 0.028
673
LPM005 Lipomatosis 47 0.028
674
P HTR015 Heterotopia, Periventricular 44 0.028
675
BSL009 Basal Ganglia Calcification 43 0.028
676
c RCR002 Recurrent Hypersomnia 43 0.028
677
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 43 0.028
678
ATS008 Autosomal Dominant Disease 42 0.028
679
CRB159 Cerebral Visual Impairment 40 0.028
680
c ATS307 Autosomal Recessive Cerebellar Ataxia 29 0.028
681
ATH004 Athetosis 25 0.028
682
c SZR014 Seizures, Benign Familial Infantile, 1 21 0.028
683
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 14 0.028
684
P ESS003 Essential Thrombocythemia 68 0.028
685
DFC004 Deficiency Anemia 65 0.028
686
P PRM019 Premature Ovarian Failure 64 0.028
687
P OST001 Osteopetrosis 62 0.028
688
TXC005 Toxic Shock Syndrome 61 0.028
689
P AGN002 Agnosia 56 0.028
690
P MLT074 Multiple Endocrine Neoplasia 55 0.028
691
VSC006 Vascular Cancer 54 0.028
692
SMT006 Somatoform Disorder 53 0.028
693
BCL002 B Cell Deficiency 50 0.028
694
CLL003 Cellulitis 49 0.028
695
P TRC086 Trichohepatoenteric Syndrome 1 46 0.028
696
BRN018 Borna Disease 42 0.028
697
PLM001 Pulmonary Tuberculosis 68 0.027
698
APP008 Appendicitis 60 0.027
699
c HPT003 Hepatitis a 59 0.027
700
c ACT210 Acute Respiratory Distress Syndrome 57 0.027
701
ORL011 Oral Cancer 55 0.027
702
c INF067 Inflammatory Bowel Disease 10 51 0.027
703
CRD118 Cardiovascular Cancer 47 0.027
704
CWP001 Cowpox 46 0.027
705
HPR003 Heparin-Induced Thrombocytopenia 46 0.027
706
SCB001 Scabies 45 0.027
707
c ADL001 Adult Lymphoma 41 0.027
708
NRM006 Neuromuscular Junction Disease 38 0.027
709
P APL001 Aplastic Anemia 73 0.027
710
TTR001 Tetralogy of Fallot 71 0.027
711
c GCH015 Gaucher Disease, Type I 66 0.027
712
c MNN043 Meningioma, Familial 60 0.027
713
STF001 Stiff-Person Syndrome 56 0.027
714
CHC001 Chickenpox 52 0.027
715
P NGH001 Night Blindness 49 0.027
716
SLP001 Sleeping Sickness 48 0.027
717
BCT004 Bacteriuria 47 0.027
718
c CNT015 Central Sleep Apnea 44 0.027
719
CRB086 Cerebral Aneurysms 39 0.027
720
TTR016 Tetra-Amelia Syndrome 36 0.027
721
ATM016 Autoimmune Disease of Skin and Connective Tissue 31 0.027
722
VSL004 Visual Cortex Disease 29 0.027
723
P HYP607 Hypercholesterolemia, Familial 77 0.026
724
TST021 Testicular Germ Cell Tumor 70 0.026
725
MLG108 Malignant Melanoma, Somatic 67 0.026
726
MSL001 Measles 61 0.026
727
P ADL010 Adult Respiratory Distress Syndrome 60 0.026
728
PLM033 Pulmonary Embolism 59 0.026
729
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.026
730
c ACT027 Acute Pancreatitis 56 0.026
731
P PYL005 Pyelonephritis 52 0.026
732
FML038 Female Reproductive Organ Cancer 51 0.026
733
c ACT068 Acute Cystitis 50 0.026
734
GST071 Gastrointestinal Carcinoma 41 0.026
735
CMP005 Campomelic Dysplasia 72 0.026
736
P TRN020 Turner Syndrome 64 0.026
737
AND015 Androgen Insensitivity 63 0.026
738
GLL008 Gilles De La Tourette Syndrome 62 0.026
739
P ASP006 Aspergillosis 60 0.026
740
P PNL012 Penile Cancer 60 0.026
741
AMY066 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 57 0.026
742
ADR005 Adrenal Carcinoma 56 0.026
743
PTT006 Pituitary Adenoma 55 0.026
744
KRT002 Keratomalacia 54 0.026
745
PTH002 Pathological Gambling 51 0.026
746
INT051 Intussusception 50 0.026
747
P HML001 Hemolytic-Uremic Syndrome 50 0.026
748
CCN002 Cocaine Abuse 47 0.026
749
c MTR002 Mitral Valve Insufficiency 44 0.026
750
MLT001 Multiple Chemical Sensitivity 43 0.026
751
P PMP005 Pemphigus Vulgaris 43 0.026
752
CMP034 Complete Androgen Insensitivity Syndrome 42 0.026
753
GST078 Gastrointestinal Allergy 41 0.026
754
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 39 0.026
755
c CNG033 Congenital Syphilis 39 0.026
756
MYL045 Myelofibrosis with Myeloid Metaplasia, Somatic 36 0.026
757
CRV069 Cervix Disease 34 0.026
758
GST039 Gastroduodenitis 31 0.026
759
P HNT016 Huntington Disease 80 0.026
760
KRT004 Keratitis 70 0.026
761
P ALP004 Alport Syndrome 68 0.026
762
EWN003 Ewing Sarcoma 64 0.026
763
P NPH009 Nephrolithiasis 60 0.026
764
P RCK004 Rickets 59 0.026
765
c ADL017 Adult T-Cell Leukemia 58 0.026
766
ALL010 Allergic Contact Dermatitis 57 0.026
767
P LCH002 Lichen Planus 53 0.026
768
ACT008 Actinic Keratosis 53 0.026
769
INT007 Intermediate Coronary Syndrome 52 0.026
770
PRT011 Protein C Deficiency 51 0.026
771
DSS009 Disseminated Intravascular Coagulation 51 0.026
772
P DWL002 Dowling-Degos Disease 1 51 0.026
773
P FML035 Familial Hyperlipidemia 50 0.026
774
c PRM023 Pre-Malignant Neoplasm 43 0.026
775
GRM001 Germ Cell and Embryonal Cancer 39 0.026
776
DYS009 Dysthymic Disorder 38 0.026
777
P CHR084 Chromosomal Disease 37 0.026
778
OBS003 Obsessive-Compulsive Personality Disorder 37 0.026
779
SWL001 Swallowing Disorders 34 0.026
780
P PTT014 Pitt-Hopkins Syndrome 51 0.025
781
ALX001 Alexia 45 0.025
782
IMM003 Immunoglobulin Alpha Deficiency 38 0.025
783
TRN006 Transvestism 28 0.025
784
ENC005 Encephalomalacia 28 0.025
785
LNR005 Linear Scleroderma 25 0.025
786
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.025
787
ACT191 Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion 16 0.025
788
P CRT072 Creutzfeldt-Jakob Disease 63 0.025
789
P SPN052 Spondyloarthropathy 60 0.025
790
MTR014 Motor Neuron Disease 59 0.025
791
c SYS004 Systemic Mastocytosis 59 0.025
792
P HMR012 Hemorrhagic Fever 55 0.025
793
BLM002 Bulimia Nervosa 54 0.025
794
CRN036 Craniopharyngioma 52 0.025
795
BLR007 Biliary Tract Neoplasm 52 0.025
796
IMP005 Impotence 50 0.025
797
P SCK002 Sick Sinus Syndrome 50 0.025
798
CYS008 Cystic Echinococcosis 50 0.025
799
P HYP370 Hypokalemic Periodic Paralysis, Type 1 49 0.025
800
MYL001 Myelitis 48 0.025
801
YLL001 Yellow Nail Syndrome 47 0.025
802
PNC013 Pancreatic Ductal Carcinoma 47 0.025
803
RFR010 Refractory Anemia 45 0.025
804
ATN003 Autonomic Nervous System Neoplasm 43 0.025
805
CRB085 Cerebral Hemorrhage 43 0.025
806
c SCN006 Secondary Syphilis 41 0.025
807
CHR322 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 41 0.025
808
NSL003 Nasal Cavity Adenocarcinoma 40 0.025
809
LYM127 Lymphatic Malformations 37 0.025
810
VNT001 Ventilation Pneumonitis 37 0.025
811
c PLN018 Peeling Skin Syndrome 2 35 0.025
812
ECH002 Echolalia 31 0.025
813
YNG002 Young Syndrome 26 0.025
814
c ESS001 Essential Tremor 61 0.025
815
P CTR001 Citrullinemia 60 0.025
816
P MYM002 Moyamoya Disease 60 0.025
817
P GLY013 Glycogen Storage Disease 59 0.025
818
P HYP192 Hypocalcemia, Autosomal Dominant 55 0.025
819
FCL009 Focal Dermal Hypoplasia 54 0.025
820
P EPN002 Ependymoma 53 0.025
821
P DGR001 Digeorge Syndrome 52 0.025
822
P KRT007 Keratoconus 51 0.025
823
P LMB006 Limb-Girdle Muscular Dystrophy 50 0.025
824
CCC002 Coccidiosis 49 0.025
825
PRN009 Paranoid Schizophrenia 47 0.025
826
PRS036 Parasitic Protozoa Infectious Disease 45 0.025
827
FCL022 Focal Dystonia 44 0.025
828
GLM011 Glomerulosclerosis 44 0.025
829
CHR008 Choroiditis 43 0.025
830
c PRM225 Primary Thrombocytopenia 42 0.025
831
c PRK025 Parkinson Disease 10 42 0.025
832
IMP006 Impulse Control Disorder 40 0.025
833
EPL116 Epileptic Encephalopathy, Childhood-Onset 39 0.025
834
CYC008 Cyclic Vomiting Syndrome 38 0.025
835
DYS003 Dysgraphia 38 0.025
836
SPS019 Spastic Paraparesis 34 0.025
837
CHL012 Childhood Disintegrative Disease 31 0.025
838
DYS004 Dyscalculia 28 0.025
839
c EPL026 Epileptic Encephalopathy, Early Infantile, 3 27 0.025
840
c EPL102 Epileptic Encephalopathy, Early Infantile, 18 25 0.025
841
c SZR013 Seizures, Benign Neonatal, Type 2 22 0.025
842
DSS025 Dissociative Seizures 21 0.025
843
PRV011 Pervasive Developmental Disorder Not Otherwise Specified 19 0.025
844
P ATX030 Ataxia-Telangiectasia 76 0.025
845
ESP021 Esophageal Cancer 75 0.025
846
CMM004 Common Variable Immunodeficiency 67 0.025
847
P LKM068 Leukemia, Chronic Myeloid, Somatic 66 0.025
848
P LNG064 Lung Cancer Susceptibility 3 62 0.025
849
P UVT001 Uveitis 59 0.025
850
PLY023 Polycystic Liver Disease 57 0.025
851
c ART101 Aortic Valve Disease 2 55 0.025
852
PNC033 Pancreas Adenocarcinoma 55 0.025
853
P VNS003 Venous Insufficiency 53 0.025
854
P HRD018 Hair Disease 50 0.025
855
SRT004 Serotonin Syndrome 49 0.025
856
P CHL066 Cholangitis 49 0.025
857
FLL008 Folliculitis 47 0.025
858
VGN020 Vaginal Disease 45 0.025
859
LYM116 Lymph Node Disease 44 0.025
860
ATM014 Autoimmune Disease of Endocrine System 37 0.025
861
c BRN108 Branchiootic Syndrome 1 36 0.025
862
P PRP003 Porphyria Cutanea Tarda 64 0.024
863
DRM014 Dermatofibrosarcoma Protuberans 60 0.024
864
CHL123 Chlamydia 59 0.024
865
ALC006 Alcoholic Hepatitis 59 0.024
866
P PRM011 Primary Ciliary Dyskinesia 58 0.024
867
MCC010 Mccune-Albright Syndrome, Somatic, Mosaic 58 0.024
868
P NPH005 Nephronophthisis 55 0.024
869
ART001 Arterial Tortuosity Syndrome 52 0.024
870
MCN001 Mucinous Adenocarcinoma 50 0.024
871
SLV003 Salivary Gland Disease 49 0.024
872
SPN041 Spinal Cord Disease 48 0.024
873
SPL012 Splenic Disease 47 0.024
874
PST062 Pustulosis Palmaris Et Plantaris 47 0.024
875
CRY004 Cryoglobulinemia 47 0.024
876
ADR008 Adrenal Adenoma 46 0.024
877
P DRM007 Dermatitis Herpetiformis 46 0.024
878
AMN003 Amnestic Disorder 46 0.024
879
SPS007 Spastic Cerebral Palsy 45 0.024
880
c PRK045 Parkinson Disease 5 44 0.024
881
CRB008 Cerebral Atherosclerosis 43 0.024
882
HYP691 Hypomelanosis of Ito 42 0.024
883
AMB001 Amebiasis 42 0.024
884
LMY003 Leiomyomatosis 41 0.024
885
P HVY001 Heavy Chain Disease 41 0.024
886
DYS015 Dysentery 41 0.024
887
c CHR020 Chronic Interstitial Cystitis 41 0.024
888
CLC001 Calciphylaxis 40 0.024
889
GLC011 Galactose Epimerase Deficiency 40 0.024
890
RMS001 Rem Sleep Behavior Disorder 40 0.024
891
PLM068 Pulmonary Vein Stenosis 39 0.024
892
ATS009 Autosomal Genetic Disease 39 0.024
893
P HMF004 Hemifacial Spasm 39 0.024
894
c ALP005 Alpha Chain Disease 37 0.024
895
PLY131 Polyposis, Skin Pigmentation, Alopecia, and Fingernail Changes 36 0.024
896
MLN014 Melnick-Needles Syndrome 35 0.024
897
c SBC003 Subacute Bacterial Endocarditis 35 0.024
898
CNT017 Central Nervous System Origin Vertigo 28 0.024
899
c DLT002 Dilated Cardiomyopathy 75 0.023
900
CRV047 Cervical Cancer, Somatic 65 0.023
901
CHR066 Chronic Fatigue Syndrome 64 0.023
902
CHD001 Chediak-Higashi Syndrome 64 0.023
903
SPN186 Spinal Cord Injury 62 0.023
904
FCT003 Factor X Deficiency 62 0.023
905
c GLY008 Glycogen Storage Disease Ii 61 0.023
906
P ALP009 Alopecia Areata 61 0.023
907
P MTR004 Maturity-Onset Diabetes of the Young 57 0.023
908
P SCL018 Scoliosis 56 0.023
909
BLD034 Bile Duct Carcinoma 55 0.023
910
P MNC007 Monocytic Leukemia 55 0.023
911
ADR044 Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete 53 0.023
912
P PNC001 Pancytopenia 52 0.023
913
NRT004 Neuritis 52 0.023
914
MST005 Mastitis 52 0.023
915
P PNM006 Pneumoconiosis 51 0.023
916
CLR109 Colorectal Adenocarcinoma 50 0.023
917
DBT084 Diabetes Mellitus, Ketosis-Prone 50 0.023
918
SPN020 Spondylosis 49 0.023
919
ADR038 Adermatoglyphia 48 0.023
920
FSC004 Fasciitis 46 0.023
921
TCL003 T Cell Deficiency 45 0.023
922
SMN008 Semantic Dementia 44 0.023
923
VTM002 Vitamin B12 Deficiency 44 0.023
924
CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 43 0.023
925
FLT006 Floating-Harbor Syndrome 41 0.023
926
P MXL015 Maxillary Sinusitis 38 0.023
927
c CHR579 Chiari Malformation Type Ii 38 0.023
928
HRN022 Hearing Loss/deafness 25 0.023
929
CRB087 Cerebral Arteriosclerosis 24 0.023
930
VSC009 Vascular Skin Disease 22 0.023
931
NRR002 Norrie Disease 61 0.023
932
MTC007 Mitochondrial Complex I Deficiency 61 0.023
933
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 58 0.023
934
HYP042 Hypochondroplasia 57 0.023
935
CPR001 Coproporphyria 55 0.023
936
PLL001 Pallister-Hall Syndrome 54 0.023
937
P GLT023 Glutaric Acidemia Iic 52 0.023
938
MYL020 Myelomeningocele 50 0.023
939
ASP001 Asperger Syndrome 49 0.023
940
P ADM011 Adams-Oliver Syndrome 48 0.023
941
SBP001 Subependymal Giant Cell Astrocytoma 47 0.023
942
TSC001 Tsc2 Angiomyolipomas, Renal, Modifier of 47 0.023
943
c CNG206 Congenital Disorder of Glycosylation, Type Ie 46 0.023
944
CVR006 Cavernous Hemangioma 46 0.023
945
OLV002 Oliver Syndrome 44 0.023
946
PRD002 Periodic Limb Movement Disorder 44 0.023
947
MTC056 Mitochondrial Dna Depletion Syndrome 4a 43 0.023
948
c INF069 Infantile Neuroaxonal Dystrophy 1 42 0.023
949
c FML191 Familial Long Qt Syndrome 41 0.023
950
MYX001 Myxopapillary Ependymoma 40 0.023
951
P KLF001 Kleefstra Syndrome 39 0.023
952
PST086 Posterior Cortical Atrophy 35 0.023
953
c PNT034 Pontocerebellar Hypoplasia, Type 2e 35 0.023
954
PNN005 Panencephalitis, Subacute Sclerosing 35 0.023
955
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 29 0.023
956
PST048 Postural Orthostatic Tachycardia Syndrome 28 0.023
957
PLY110 Polymicrogyria, Bilateral Temporooccipital 22 0.023
958
OLF001 Olfactory Nerve Disease 21 0.023
959
MYC001 Myoclonic Cerebellar Dyssynergia 21 0.023
960
c RNG013 Ring Chromosome 18 20 0.023
961
NNT041 Neonatal Period Electroclinical Syndrome 20 0.023
962
ERL016 Early-Onset Lafora Body Disease 12 0.023
963
GST019 Gastrointestinal Stromal Tumor 72 0.022
964
P AGM001 Agammaglobulinemia 64 0.022
965
PNC041 Pancreatic Ductal Adenocarcinoma 63 0.022
966
GLL018 Gallbladder Cancer 63 0.022
967
P SPN301 Spinocerebellar Ataxia 2 63 0.022
968
c HMP004 Hemophilia B 62 0.022
969
LSH001 Leishmaniasis 62 0.022
970
LPD011 Lipoid Adrenal Hyperplasia 61 0.022
971
CNT097 Central Hypoventilation Syndrome, Congenital 60 0.022
972
TNG003 Tongue Cancer 60 0.022
973
P MYP006 Myopia 59 0.022
974
ALL006 Allergic Asthma 58 0.022
975
P HYP040 Hypospadias 57 0.022
976
P LRY019 Laryngitis 55 0.022
977
P SML016 Small Intestine Cancer 54 0.022
978
MCN017 Meconium Ileus 54 0.022
979
GST027 Gastric Lymphoma 53 0.022
980
TST014 Testicular Cancer 52 0.022
981
QDR001 Quadriplegia 52 0.022
982
P PRM006 Primary Biliary Cirrhosis 52 0.022
983
FML037 Female Breast Cancer 51 0.022
984
MRS002 Marshall Syndrome 50 0.022
985
ICH054 Ichthyosis, X-Linked 48 0.022
986
CTN014 Cutaneous Mastocytosis 48 0.022
987
BRN032 Brain Glioma 48 0.022
988
PLS009 Plasma Cell Neoplasm 48 0.022
989
CHR563 Chronic Eosinophilic Leukemia 47 0.022
990
MXD023 Mixed Cell Type Cancer 47 0.022
991
VSC047 Vascular Malformation 45 0.022
992
PLR005 Pleuropneumonia 43 0.022
993
MSC051 Muscular Dystrophy, Rigid Spine, 1 43 0.022
994
P CPL003 Capillary Leak Syndrome 43 0.022
995
ART008 Arteriosclerosis Obliterans 42 0.022
996
CPL007 Capillary Malformation-Arteriovenous Malformation 41 0.022
997
OPT008 Optic Nerve Neoplasm 40 0.022
998
LNG013 Lung Lymphoma 40 0.022
999
TXC020 Toxic Oil Syndrome 39 0.022
1000
c INH004 Inherited Blood Coagulation Disease 39 0.022
1001
NRC019 Neurocutaneous Melanosis, Somatic 39 0.022
1002
PRS063 Paresthesia 36 0.022
1003
FNC005 Functional Colonic Disease 30 0.022
1004
c SCH064 Schizophrenia 10 22 0.022
1005
c PNC070 Panic Disorder 2 14 0.022
1006
LPT001 Leptospirosis 63 0.022
1007
DRR010 Darier Disease 61 0.022
1008
KRN002 Kearns-Sayre Syndrome 59 0.022
1009
P VNT002 Ventricular Septal Defect 59 0.022
1010
P PLC011 Pilocytic Astrocytoma 58 0.022
1011
SCH014 Schistosomiasis 58 0.022
1012
P NLD001 Nail Disease 56 0.022
1013
BRN002 Bronchiolitis 56 0.022
1014
IMM111 Immunodeficiency, X-Linked, with Hyper-Igm 55 0.022
1015
P ACT135 Acute Graft Versus Host Disease 53 0.022
1016
TRY001 Trypanosomiasis 52 0.022
1017
IRN001 Iron Deficiency Anemia 51 0.022
1018
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 51 0.022
1019
c CHR417 Chronic Graft Versus Host Disease 50 0.022
1020
P CFF001 Coffin-Siris Syndrome 50 0.022
1021
CNN003 Conn's Syndrome 49 0.022
1022
THR013 Thoracic Outlet Syndrome 49 0.022
1023
HYP063 Hypersplenism 48 0.022
1024
PLN006 Poland Syndrome 48 0.022
1025
SPR010 Sporotrichosis 48 0.022
1026
c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 47 0.022
1027
HYD002 Hydronephrosis 47 0.022
1028
ECT026 Ectopic Pregnancy 47 0.022
1029
FRM003 Farmer's Lung 47 0.022
1030
CNJ012 Conjunctival Disease 46 0.022
1031
CRB033 Cerebral Degeneration 46 0.022
1032
TBR011 Tuberculous Meningitis 46 0.022
1033
CRY003 Cryptosporidiosis 46 0.022
1034
PLM017 Pulmonary Alveolar Microlithiasis 46 0.022
1035