Search results for convulsions

349 hits were found for convulsions

# Family MCID Name MIFTS Score
1
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 35 6.234
2
c SZR007 Seizures, Benign Familial Infantile, 3 46 4.039
3
c SZR014 Seizures, Benign Familial Infantile, 1 25 3.705
4
P BNG026 Benign Neonatal Seizures 37 3.692
5
CNV009 Convulsions Benign Familial Neonatal Dominant Form 17 3.127
6
BNG006 Benign Familial Neonatal Epilepsy 36 2.904
7
c SZR016 Seizures, Benign Familial Infantile, 2 19 2.873
8
c SZR023 Seizures, Benign Familial Neonatal, 2 31 2.836
9
c SZR020 Seizures, Benign Familial Infantile, 5 17 2.836
10
c SZR011 Seizures, Benign Familial Infantile, 4 12 2.836
11
c BNG023 Benign Familial Infantile Epilepsy 42 2.407
12
c SZR022 Seizures, Benign Familial Neonatal, 1 39 2.339
13
c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 28 2.316
14
c FBR072 Febrile Seizures, Familial, 11 24 2.316
15
c FBR069 Febrile Seizures, Familial, 4 19 2.316
16
c SZR025 Seizures, Benign Familial Neonatal, 3 14 2.316
17
c FBR067 Febrile Seizures, Familial, 9 14 2.316
18
c FBR076 Febrile Seizures, Familial, 7 10 2.316
19
STT001 Status Epilepticus 60 2.234
20
P FBR031 Febrile Seizures 52 1.786
21
MCR053 Microcephaly Micropenis Convulsions 5 1.745
22
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41 1.729
23
LND001 Landau-Kleffner Syndrome 35 1.729
24
ALP090 Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism 16 1.711
25
DSS025 Dissociative Seizures 24 1.692
26
CNV019 Convulsive Disorder, Familial, with Prenatal or Early Onset 9 1.692
27
c FBR073 Febrile Seizures, Familial, 1 19 1.668
28
c FBR075 Febrile Seizures, Familial, 2 15 1.668
29
c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 23 1.637
30
c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 21 1.637
31
c FBR074 Febrile Seizures, Familial, 6 14 1.637
32
c FBR071 Febrile Seizures, Familial, 5 14 1.637
33
c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 13 1.637
34
c FBR068 Febrile Seizures, Familial, 10 9 1.637
35
MYK001 Myokymia with Neonatal Epilepsy 7 1.637
36
P EPL164 Epilepsy 70 0.280
37
P SZR006 Seizure Disorder 55 0.185
38
P ENC018 Encephalopathy 58 0.174
39
c CNT035 Central Nervous System Disease 65 0.153
40
P NRV007 Nervous System Disease 75 0.148
41
SYN036 Syncope 46 0.111
42
GST045 Gastroenteritis 65 0.105
43
SHG001 Shigellosis 57 0.098
44
TRM010 Traumatic Brain Injury 54 0.098
45
NRN002 Neuronitis 43 0.098
46
PRX022 Paroxysmal Choreoathetosis 23 0.098
47
AGN016 Aging 65 0.091
48
P EPL140 Epilepsy, Idiopathic Generalized 58 0.091
49
BRN071 Brain Injury 54 0.091
50
P EPS030 Episodic Kinesigenic Dyskinesia 1 33 0.091
51
P ENC004 Encephalitis 66 0.083
52
APH002 Aphasia 58 0.083
53
CRB009 Cerebritis 41 0.083
54
RTR001 Retrograde Amnesia 40 0.083
55
CRT012 Cortical Blindness 34 0.083
56
ADG002 Audiogenic Seizures 26 0.083
57
P MNN013 Meningitis 71 0.074
58
MNT002 Mental Depression 60 0.074
59
P CHL002 Childhood Absence Epilepsy 56 0.074
60
P HYP024 Hypoparathyroidism 55 0.074
61
HDN002 Head Injury 48 0.074
62
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 40 0.074
63
c BLD140 Blood Group, I System 37 0.074
64
P HPT021 Hepatitis 75 0.064
65
ANX010 Anxiety 72 0.064
66
P SCH015 Schizophrenia 71 0.064
67
MSL001 Measles 64 0.064
68
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 63 0.064
69
CRD119 Cardiac Arrest 63 0.064
70
JPN002 Japanese Encephalitis 59 0.064
71
FCL014 Focal Epilepsy 56 0.064
72
c EPL209 Epilepsy, Idiopathic Generalized 10 55 0.064
73
END040 Endogenous Depression 53 0.064
74
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.064
75
FNT004 Fainting 36 0.064
76
GLS004 Glossopharyngeal Neuralgia 34 0.064
77
c RNG016 Ring Chromosome 20 26 0.064
78
SCN009 Scn1a-Related Seizure Disorders 6 0.064
79
P PNM007 Pneumonia 70 0.052
80
DMN002 Dementia 68 0.052
81
ISC004 Ischemia 66 0.052
82
P THL005 Thalassemia 65 0.052
83
ACR006 Aceruloplasminemia 65 0.052
84
P NRP001 Neuropathy 63 0.052
85
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.052
86
P PRP029 Porphyria 62 0.052
87
HYP056 Hypoglycemia 62 0.052
88
DFC004 Deficiency Anemia 62 0.052
89
GTL001 Gitelman Syndrome 62 0.052
90
P MMP001 Mumps 61 0.052
91
P RBL001 Rubella 61 0.052
92
STR039 Sturge-Weber Syndrome 59 0.052
93
ALL026 Allergic Hypersensitivity Disease 59 0.052
94
c BCT007 Bacterial Meningitis 59 0.052
95
WST001 West Syndrome 57 0.052
96
P ALP008 Alopecia 56 0.052
97
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.052
98
IRN001 Iron Deficiency Anemia 55 0.052
99
NRT004 Neuritis 55 0.052
100
SPS003 Spastic Diplegia 55 0.052
101
MGR028 Migraine with or Without Aura 1 55 0.052
102
ASP003 Aseptic Meningitis 54 0.052
103
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 54 0.052
104
SRT004 Serotonin Syndrome 51 0.052
105
RYS001 Reye Syndrome 50 0.052
106
P HMP006 Hemiplegic Migraine 49 0.052
107
PRN009 Paranoid Schizophrenia 49 0.052
108
MTC056 Mitochondrial Dna Depletion Syndrome 4a 49 0.052
109
ASP007 Aspiration Pneumonia 49 0.052
110
CRB004 Cerebral Artery Occlusion 46 0.052
111
ASP008 Aspiration Pneumonitis 45 0.052
112
IRN002 Iron Metabolism Disease 45 0.052
113
BRN080 Brain Ischemia 45 0.052
114
STL001 St. Louis Encephalitis 43 0.052
115
WST004 West Nile Encephalitis 42 0.052
116
LMB024 Limbic Encephalitis 42 0.052
117
MYT011 Myotonia 41 0.052
118
GLC098 Glaucoma-Related Pigment Dispersion Syndrome 40 0.052
119
MYC033 Myoclonus 40 0.052
120
CHR073 Choreatic Disease 40 0.052
121
BNG009 Benign Epilepsy with Centrotemporal Spikes 39 0.052
122
P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 38 0.052
123
P CRB088 Cerebral Atrophy 38 0.052
124
HYP550 Hypomagnesemia 1, Intestinal 38 0.052
125
PYR016 Pyridoxine Deficiency 37 0.052
126
EPL131 Epilepsy, Pyridoxine-Dependent 37 0.052
127
DSS010 Dissociative Disorder 34 0.052
128
P HYP210 Hypomagnesemia 2, Renal 33 0.052
129
ENC056 Encephalopathy, Acute, Infection-Induced 4 30 0.052
130
GLC105 Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 29 0.052
131
P PRX010 Paroxysmal Ventricular Fibrillation 28 0.052
132
PRX086 Paroxysmal Exertion-Induced Dyskinesia 22 0.052
133
VNZ001 Venezuelan Hemorrhagic Fever 19 0.052
134
PYR015 Pyridoxal 5'-Phosphate-Dependent Epilepsy 17 0.052
135
P ALZ034 Alzheimer Disease 95 0.037
136
MLR004 Malaria 86 0.037
137
c LKM061 Leukemia, Acute Myeloid 81 0.037
138
P HRT032 Heart Disease 80 0.037
139
P PRK057 Parkinson Disease, Late-Onset 78 0.037
140
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.037
141
P LKM002 Leukemia 75 0.037
142
ALP046 Alport Syndrome, X-Linked 74 0.037
143
GLB002 Glioblastoma 74 0.037
144
BRN028 Brain Cancer 72 0.037
145
CRB037 Cerebral Palsy 70 0.037
146
P MJR001 Major Depressive Disorder 70 0.037
147
P MYL006 Myeloid Leukemia 69 0.037
148
GLB015 Glioblastoma Multiforme 68 0.037
149
c HPT016 Hepatitis B 68 0.037
150
P ANR048 Aniridia 1 68 0.037
151
c PRM196 Premature Ovarian Failure 1 68 0.037
152
SKN016 Skin Disease 68 0.037
153
P HLP001 Holoprosencephaly 67 0.037
154
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67 0.037
155
HSH003 Hashimoto Thyroiditis 67 0.037
156
P AST007 Astrocytoma 66 0.037
157
c MLG068 Malignant Glioma 66 0.037
158
TTN003 Tetanus 65 0.037
159
MDD011 Mood Disorder 64 0.037
160
c MCP050 Mucopolysaccharidosis, Type Ii 64 0.037
161
HYP066 Hyperglycemia 64 0.037
162
P ALP009 Alopecia Areata 64 0.037
163
P PNC044 Pancreatitis 64 0.037
164
LNG108 Langerhans Cell Histiocytosis 63 0.037
165
P INT143 Interstitial Cystitis 63 0.037
166
RCK004 Rickets 63 0.037
167
P XRD010 Xeroderma Pigmentosum, Variant Type 62 0.037
168
P HYP086 Hypothyroidism 62 0.037
169
P EXN002 Exanthem 62 0.037
170
P AGN002 Agnosia 61 0.037
171
THR024 Thrombosis 61 0.037
172
HYP266 Hypoxia 61 0.037
173
P DYS154 Dystonia 61 0.037
174
STF001 Stiff-Person Syndrome 61 0.037
175
P MCP040 Mucopolysaccharidosis-Plus Syndrome 61 0.037
176
GLS001 Gliosarcoma 61 0.037
177
P GLM045 Glioma 61 0.037
178
P NPH012 Nephrotic Syndrome 60 0.037
179
PRP083 Porphyria, Acute Intermittent 60 0.037
180
P HST010 Histiocytosis 60 0.037
181
HPT019 Hepatic Encephalopathy 59 0.037
182
P OLG002 Oligodendroglioma 59 0.037
183
HLC001 Holocarboxylase Synthetase Deficiency 59 0.037
184
P HYP069 Hyperparathyroidism 58 0.037
185
P HYP035 Hypophosphatasia 58 0.037
186
P PLY019 Polyneuropathy 58 0.037
187
c GLC092 Glaucoma, Primary Open Angle 58 0.037
188
P ECL001 Eclampsia 57 0.037
189
ARG002 Argininosuccinic Aciduria 57 0.037
190
INC021 Incontinentia Pigmenti 57 0.037
191
P MCR010 Microcephaly 57 0.037
192
P EPS003 Episodic Ataxia 57 0.037
193
HYP042 Hypochondroplasia 57 0.037
194
CNS004 Constipation 57 0.037
195
P PRM011 Primary Ciliary Dyskinesia 57 0.037
196
BRN106 Burns 57 0.037
197
CYS005 Cysticercosis 57 0.037
198
BNF002 Bone Fracture 56 0.037
199
LYM027 Lymphopenia 56 0.037
200
P MYP006 Myopia 56 0.037
201
GRD007 Grade Iii Astrocytoma 56 0.037
202
P THY032 Thyroiditis 56 0.037
203
PRV006 Pervasive Developmental Disorder 56 0.037
204
HDC001 Headache 55 0.037
205
TXC002 Toxic Encephalopathy 55 0.037
206
c CLR131 Ciliary Dyskinesia, Primary, 1 54 0.037
207
PYR041 Pyruvate Kinase Deficiency of Red Cells 54 0.037
208
HMP005 Hemiplegia 54 0.037
209
TMP001 Temporal Lobe Epilepsy 54 0.037
210
HYP080 Hypogonadism 54 0.037
211
PRP019 Peripheral Nervous System Disease 53 0.037
212
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.037
213
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.037
214
OPT006 Optic Nerve Disease 53 0.037
215
CRD223 Cardiac Arrhythmia 52 0.037
216
CRN239 Carnitine Deficiency, Systemic Primary 52 0.037
217
RTN023 Retinitis 52 0.037
218
HPT082 Hepatic Adenomas, Familial 52 0.037
219
P SHR001 Short Bowel Syndrome 52 0.037
220
P MGL001 Megaloblastic Anemia 52 0.037
221
CLB010 Coloboma of Macula 52 0.037
222
OCL006 Ocular Hypertension 51 0.037
223
ATN005 Autonomic Dysfunction 51 0.037
224
c FML023 Familial Hemiplegic Migraine 51 0.037
225
P OPN001 Open-Angle Glaucoma 51 0.037
226
P LCT001 Lactic Acidosis 51 0.037
227
FCT004 Factor Xii Deficiency 50 0.037
228
P PSD015 Pseudohypoparathyroidism 50 0.037
229
PPL021 Papilledema 50 0.037
230
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.037
231
LRN003 Learning Disability 49 0.037
232
ANX004 Anoxia 49 0.037
233
c MLG069 Malignant Hypertension 49 0.037
234
EWN002 Ewing's Family of Tumors 49 0.037
235
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.037
236
c ACT078 Acute Porphyria 48 0.037
237
HYP025 Hyperphosphatemia 48 0.037
238
CRN017 Coronary Thrombosis 48 0.037
239
CHR008 Choroiditis 47 0.037
240
c BRN108 Branchiootic Syndrome 1 47 0.037
241
P CLS010 Cluster Headache 47 0.037
242
WDH003 Woodhouse-Sakati Syndrome 47 0.037
243
PTT004 Pituitary Apoplexy 47 0.037
244
CRB090 Cerebral Hypoxia 47 0.037
245
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.037
246
ANP009 Anaplastic Oligodendroglioma 46 0.037
247
P RNL015 Renal Hypertension 46 0.037
248
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.037
249
VTM002 Vitamin B12 Deficiency 46 0.037
250
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.037
251
EPD070 Epidermoid Cysts 46 0.037
252
P RTN014 Retinal Artery Occlusion 45 0.037
253
P HYP263 Hypersomnia 45 0.037
254
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.037
255
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.037
256
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 44 0.037
257
NRL004 Neuroleptic Malignant Syndrome 44 0.037
258
NRS003 Neurosyphilis 44 0.037
259
P FNG006 Feingold Syndrome 1 44 0.037
260
EST005 Esotropia 43 0.037
261
MCR018 Microcytic Anemia 43 0.037
262
P INF016 Infantile Epileptic Encephalopathy 43 0.037
263
FRY002 Fryns Syndrome 43 0.037
264
CNV002 Conversion Disorder 42 0.037
265
EXN001 Exanthema Subitum 42 0.037
266
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.037
267
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.037
268
P CRN035 Cranial Nerve Palsy 42 0.037
269
PRM024 Primary Angle-Closure Glaucoma 42 0.037
270
HYP026 Hypoglycemic Coma 41 0.037
271
PRL019 Prolidase Deficiency 41 0.037
272
ADP007 Adie Pupil 41 0.037
273
SPS057 Spasticity 41 0.037
274
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 41 0.037
275
LBS001 Lubs X-Linked Mental Retardation Syndrome 41 0.037
276
DBT090 Diabetes and Deafness, Maternally Inherited 40 0.037
277
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 40 0.037
278
WBR001 Weber Syndrome 40 0.037
279
PRM237 Primary Hypomagnesemia 40 0.037
280
c CNT028 Central Retinal Artery Occlusion 40 0.037
281
PRT019 Protein-Losing Enteropathy 40 0.037
282
P CRB059 Cerebellar Degeneration 40 0.037
283
UNV001 Unverricht-Lundborg Syndrome 40 0.037
284
c TYR011 Tyrosinemia, Type Iii 39 0.037
285
GLC084 Glaucoma, Normal Tension 39 0.037
286
GLC042 Glucocorticoid Deficiency 1 39 0.037
287
DHY011 Dihydropyrimidinase Deficiency 39 0.037
288
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 39 0.037
289
MLN003 Melancholia 39 0.037
290
DFN344 Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome 38 0.037
291
OLG006 Oligoastrocytoma 38 0.037
292
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 38 0.037
293
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.037
294
P MYG005 Myoglobinuria 37 0.037
295
SLT014 Salt and Pepper Developmental Regression Syndrome 37 0.037
296
MLY001 Molybdenum Cofactor Deficiency 37 0.037
297
HRP002 Herpes Gestationis 37 0.037
298
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 36 0.037
299
BSL004 Basilar Artery Occlusion 35 0.037
300
LWT001 Low Tension Glaucoma 35 0.037
301
FML063 Familial Glucocorticoid Deficiency 35 0.037
302
PYR004 Pyuria 34 0.037
303
PSD021 Pseudovaginal Perineoscrotal Hypospadias 34 0.037
304
c HMG003 Hemoglobin E Disease 34 0.037
305
MNG003 Mungan Syndrome 34 0.037
306
SCL025 Scleromyxedema 34 0.037
307
SPN331 Spondyloocular Syndrome 34 0.037
308
P CTR177 Citrullinemia, Type Ii, Adult-Onset 34 0.037
309
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 34 0.037
310
c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 33 0.037
311
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.037
312
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.037
313
HYP264 Hypertonia 32 0.037
314
c SCH069 Schindler Disease, Type I 31 0.037
315
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.037
316
ALR002 Al-Raqad Syndrome 30 0.037
317
BRT055 Breath-Holding Spells 30 0.037
318
c MYC083 Myoclonic Epilepsy, Familial Infantile 30 0.037
319
c RCR002 Recurrent Hypersomnia 30 0.037
320
PNS014 Penis Agenesis 29 0.037
321
INT009 Intracranial Abscess 29 0.037
322
c RNG029 Ring Chromosome 14 Syndrome 27 0.037
323
RFL002 Reflex Epilepsy 27 0.037
324
ANP008 Anaplastic Oligoastrocytoma 27 0.037
325
NRL008 Neural Crest Tumor 26 0.037
326
ATH004 Athetosis 24 0.037
327
P FML186 Familial Paroxysmal Nonkinesigenic Dyskinesia 24 0.037
328
c PRX057 Peroxisome Biogenesis Disorder 4a 24 0.037
329
GLC043 Glucocorticoid Deficiency 2 23 0.037
330
HYD052 Hydrocephalus, Sprengel Anomaly, and Costovertebral Dysplasia 22 0.037
331
ANR038 Anorexia Nervosa 1 21 0.037
332
ARG004 Argyria 21 0.037
333
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.037
334
SHK001 Shaken Baby Syndrome 21 0.037
335
XLN224 X-Linked Non-Specific Intellectual Disability 21 0.037
336
MXD012 Mixed Oligodendroglioma-Astrocytoma 20 0.037
337
MXD001 Mixed Cerebral Palsy 20 0.037
338
c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20 0.037
339
PST047 Post-Traumatic Epilepsy 19 0.037
340
SPN092 Spinal Shock 19 0.037
341
BLD137 Blood Group--Ahonen 17 0.037
342
BTD002 Beta-Adrenergic Stimulation, Response to 17 0.037
343
ISN001 Isoniazid Toxicity 16 0.037
344
PRT006 Partial Motor Epilepsy 15 0.037
345
PCD002 Pcdh19-Related Female-Limited Epilepsy 15 0.037
346
CHD007 Chd2 Myoclonic Encephalopathy 14 0.037
347
HYP145 Hyperbetaalaninemia 10 0.037
348
JMC001 Jamaican Vomiting Sickness 10 0.037
349
LPC004 Lipoic Acid Biosynthesis Defects 7 0.037
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