Search results for generalized epilepsy

1160 hits were found for generalized epilepsy

# Family MCID Name MIFTS Score
1
c EPL209 Epilepsy, Idiopathic Generalized 10 55 6.770
2
P EPL140 Epilepsy, Idiopathic Generalized 58 6.089
3
PRX090 Paroxysmal Nonkinesigenic Dyskinesia, 3, with or Without Generalized Epilepsy 19 4.541
4
c EPL084 Epilepsy, Idiopathic Generalized 11 20 4.221
5
c EPL208 Epilepsy, Idiopathic Generalized 8 14 4.063
6
c EPL086 Epilepsy, Idiopathic Generalized 9 20 4.013
7
c EPL205 Epilepsy, Idiopathic Generalized 13 17 3.746
8
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67 3.653
9
c GNR039 Generalized Epilepsy with Febrile Seizures Plus, Type 2 28 3.574
10
c GNR038 Generalized Epilepsy with Febrile Seizures Plus, Type 1 33 3.564
11
c EPL137 Epilepsy, Childhood Absence 6 16 3.552
12
c GNR043 Generalized Epilepsy with Febrile Seizures Plus, Type 7 23 3.551
13
c GNR041 Generalized Epilepsy with Febrile Seizures Plus, Type 3 21 3.550
14
c EPL089 Epilepsy, Idiopathic Generalized 4 13 3.527
15
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 39 3.460
16
c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 19 3.232
17
c EPL098 Epilepsy, Idiopathic Generalized 12 18 3.226
18
c EPL090 Epilepsy, Idiopathic Generalized 5 12 3.224
19
c EPL091 Epilepsy, Idiopathic Generalized 3 17 3.221
20
c EPL092 Epilepsy, Idiopathic Generalized 2 11 3.218
21
c EPL093 Epilepsy, Idiopathic Generalized 7 23 3.110
22
c GNR042 Generalized Epilepsy with Febrile Seizures Plus, Type 8 13 2.902
23
c EPL165 Epilepsy, Idiopathic Generalized 14 18 2.901
24
c GNR040 Generalized Epilepsy with Febrile Seizures Plus, Type 4 16 2.888
25
c GNR013 Generalized Epilepsy with Febrile Seizures Plus, Type 6 13 2.882
26
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 34 2.794
27
GNT046 Genetic Epilepsy with Febrile Seizures Plus 22 2.374
28
BNG063 Benign Partial Epilepsy with Secondarily Generalized Seizures in Infancy 3 1.470
29
P LPR002 Leopard Syndrome 56 1.460
30
c PHT009 Photoparoxysmal Response 2 9 1.440
31
P EPL164 Epilepsy 70 1.365
32
TMP001 Temporal Lobe Epilepsy 54 0.474
33
FCL014 Focal Epilepsy 56 0.422
34
P ENC018 Encephalopathy 58 0.382
35
P SZR006 Seizure Disorder 55 0.367
36
c CNT035 Central Nervous System Disease 65 0.359
37
P NRV007 Nervous System Disease 75 0.344
38
MYC033 Myoclonus 40 0.301
39
ANX010 Anxiety 72 0.280
40
P MYC026 Myoclonus Epilepsy 35 0.278
41
NRN002 Neuronitis 43 0.239
42
P FBR031 Febrile Seizures 52 0.234
43
P CHL002 Childhood Absence Epilepsy 56 0.234
44
c PRG011 Progressive Myoclonus Epilepsy 40 0.221
45
GNR004 Generalized Anxiety Disorder 53 0.202
46
AGN016 Aging 65 0.188
47
CRB009 Cerebritis 41 0.182
48
PHT008 Photosensitive Epilepsy 35 0.179
49
RFL002 Reflex Epilepsy 27 0.171
50
c BLD140 Blood Group, I System 37 0.168
51
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 53 0.166
52
STT001 Status Epilepticus 60 0.162
53
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.155
54
EPL073 Epilepsy, Nocturnal Frontal Lobe, 1 47 0.155
55
EPL131 Epilepsy, Pyridoxine-Dependent 37 0.152
56
P ANR048 Aniridia 1 68 0.148
57
P TBR001 Tuberous Sclerosis 69 0.148
58
ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 37 0.145
59
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.145
60
ANR038 Anorexia Nervosa 1 21 0.145
61
BLD137 Blood Group--Ahonen 17 0.145
62
MNT002 Mental Depression 60 0.140
63
BNG009 Benign Epilepsy with Centrotemporal Spikes 39 0.136
64
MYC023 Myoclonic Astatic Epilepsy 29 0.136
65
ALR002 Al-Raqad Syndrome 30 0.133
66
P ENC004 Encephalitis 66 0.128
67
LNN001 Lennox-Gastaut Syndrome 59 0.127
68
c MYC068 Myoclonic Epilepsy of Infancy 38 0.126
69
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 38 0.126
70
P ATS364 Autism 70 0.122
71
HMP005 Hemiplegia 54 0.121
72
CRD075 Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant 42 0.120
73
CMP006 Complex Partial Epilepsy 30 0.119
74
P DYS154 Dystonia 61 0.118
75
ERL001 Early Myoclonic Encephalopathy 41 0.118
76
c TBR025 Tuberous Sclerosis 1 63 0.117
77
PSY004 Psychotic Disorder 72 0.116
78
MSL004 Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis 18 0.113
79
P JVN007 Juvenile Absence Epilepsy 42 0.112
80
DMN002 Dementia 68 0.110
81
P LKM002 Leukemia 75 0.110
82
OCL033 Oculocerebral Syndrome with Hypopigmentation 31 0.110
83
MYC079 Myoclonic Epilepsy of Lafora 60 0.108
84
P SCH015 Schizophrenia 71 0.106
85
SPS003 Spastic Diplegia 55 0.106
86
MDD011 Mood Disorder 64 0.104
87
c CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 53 0.103
88
P LPD010 Lipodystrophy 57 0.103
89
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 63 0.103
90
c EPL133 Epilepsy, Juvenile Absence 1 31 0.101
91
MYC072 Myoclonic Epilepsy Associated with Ragged-Red Fibers 44 0.100
92
P PRD008 Periodontitis 67 0.100
93
END072 Endotheliitis 46 0.100
94
FBR064 Febrile Infection-Related Epilepsy Syndrome 31 0.099
95
PLY024 Polymicrogyria 36 0.099
96
P MSC005 Muscular Dystrophy 66 0.099
97
WST001 West Syndrome 57 0.099
98
P EPL196 Epilepsy, Familial Focal, with Variable Foci 1 33 0.098
99
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.098
100
P HPT021 Hepatitis 75 0.097
101
c CNG012 Congenital Generalized Lipodystrophy 51 0.097
102
PLY110 Polymicrogyria, Bilateral Temporooccipital 32 0.096
103
HYP231 Hypothalamic Hamartomas 49 0.095
104
c EPS039 Episodic Pain Syndrome, Familial, 1 33 0.095
105
P THY032 Thyroiditis 56 0.095
106
LRN003 Learning Disability 49 0.095
107
HDC001 Headache 55 0.095
108
P TRM003 Tremor 54 0.094
109
BNG006 Benign Familial Neonatal Epilepsy 36 0.094
110
CNT106 Centralopathic Epilepsy 29 0.094
111
ATS012 Autosomal Dominant Partial Epilepsy with Auditory Features 16 0.094
112
MGR028 Migraine with or Without Aura 1 55 0.093
113
EPL114 Epilepsy, Familial Temporal Lobe, 1 42 0.093
114
P DBT009 Diabetes Mellitus 72 0.092
115
P HRT032 Heart Disease 80 0.091
116
ISC004 Ischemia 66 0.091
117
IDP067 Idiopathic Hemiconvulsion-Hemiplegia Syndrome 19 0.091
118
UNV001 Unverricht-Lundborg Syndrome 40 0.090
119
HPT082 Hepatic Adenomas, Familial 52 0.090
120
VSL002 Visual Epilepsy 27 0.090
121
MLR020 Malaria, Mild 23 0.089
122
SPS057 Spasticity 41 0.088
123
RTN023 Retinitis 52 0.088
124
ALP046 Alport Syndrome, X-Linked 74 0.088
125
P MJR001 Major Depressive Disorder 70 0.088
126
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 40 0.087
127
P ATT013 Attention Deficit-Hyperactivity Disorder 67 0.086
128
APH002 Aphasia 58 0.086
129
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 29 0.085
130
P GLM045 Glioma 61 0.084
131
P MYP004 Myopathy 69 0.084
132
P EPL198 Epilepsy, Myoclonic Juvenile 29 0.084
133
P BRS047 Breast Cancer 100 0.083
134
P ALZ034 Alzheimer Disease 95 0.083
135
P ANG001 Angelman Syndrome 61 0.083
136
SLP005 Sleep Disorder 59 0.082
137
P MCR010 Microcephaly 57 0.082
138
c BNG023 Benign Familial Infantile Epilepsy 42 0.082
139
c BNG079 Benign Adult Familial Myoclonic Epilepsy 30 0.082
140
c SZR007 Seizures, Benign Familial Infantile, 3 46 0.079
141
P NRP001 Neuropathy 63 0.079
142
c BRN108 Branchiootic Syndrome 1 47 0.078
143
ADG002 Audiogenic Seizures 26 0.078
144
HDN002 Head Injury 48 0.077
145
c MYC083 Myoclonic Epilepsy, Familial Infantile 30 0.076
146
P RNG031 Ring Chromosome Y Syndrome 29 0.076
147
c EPL203 Epilepsy, Familial Adult Myoclonic, 2 25 0.076
148
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.076
149
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.076
150
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.076
151
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.076
152
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.076
153
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.076
154
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.076
155
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.076
156
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.076
157
GNG013 Gingivitis 64 0.076
158
EPL095 Epilepsy with Myoclonic Absences 13 0.075
159
P LYM118 Lymphoma 71 0.074
160
P PRV002 Periventricular Nodular Heterotopia 44 0.074
161
P PNC025 Panic Disorder 57 0.074
162
ACR006 Aceruloplasminemia 65 0.074
163
EPL206 Epilepsy, Progressive Myoclonic, 3, with or Without Intracellular Inclusions 24 0.073
164
P LPS004 Lupus Erythematosus 69 0.073
165
c ATS007 Autism Spectrum Disorder 68 0.073
166
WBR001 Weber Syndrome 40 0.072
167
ONC002 Onchocerciasis 53 0.072
168
SLT014 Salt and Pepper Developmental Regression Syndrome 37 0.072
169
LND001 Landau-Kleffner Syndrome 35 0.072
170
VSC007 Vascular Disease 71 0.072
171
ANR040 Aneurysm 61 0.072
172
AST005 Asthma 83 0.072
173
P PRS038 Personality Disorder 65 0.071
174
P HYP265 Hypotonia 40 0.071
175
STR039 Sturge-Weber Syndrome 59 0.071
176
EPL115 Epilepsy, Familial Temporal Lobe, 2 30 0.071
177
MLG120 Malignant Migrating Partial Seizures of Infancy 36 0.070
178
TTN003 Tetanus 65 0.070
179
P RTT002 Rett Syndrome 82 0.070
180
c EPL200 Epilepsy, Childhood Absence 1 21 0.070
181
c ERL003 Early Onset Absence Epilepsy 24 0.070
182
P PNC044 Pancreatitis 64 0.070
183
BRN071 Brain Injury 54 0.069
184
P ART022 Arthritis 77 0.069
185
P MSC003 Muscular Atrophy 55 0.068
186
EPL128 Epilepsy, Familial Temporal Lobe, 3 30 0.068
187
SKN016 Skin Disease 68 0.068
188
P ATX024 Ataxia-Oculomotor Apraxia 3 47 0.068
189
P SPN046 Spinal Muscular Atrophy 63 0.068
190
SYN036 Syncope 46 0.068
191
LMB024 Limbic Encephalitis 42 0.067
192
P CTR002 Cataract 60 0.067
193
c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49 0.066
194
CYS005 Cysticercosis 57 0.066
195
P LNG028 Long Qt Syndrome 63 0.066
196
P MYC007 Myocardial Infarction 81 0.066
197
HYP266 Hypoxia 61 0.066
198
MLR004 Malaria 86 0.065
199
GNG004 Ganglioglioma 51 0.065
200
P ENC008 Encephalocele 48 0.065
201
ISC006 Ischemic Heart Disease 73 0.065
202
P HRP006 Herpes Simplex 70 0.065
203
P INF016 Infantile Epileptic Encephalopathy 43 0.065
204
P CRN300 Coronary Heart Disease 1 57 0.064
205
INF033 Infancy Electroclinical Syndrome 22 0.064
206
EPL072 Epilepsy, Nocturnal Frontal Lobe, 3 28 0.064
207
c EPL134 Epilepsy, Progressive Myoclonic 7 24 0.064
208
MTC069 Mitochondrial Disorders 49 0.064
209
c SYS001 Systemic Lupus Erythematosus 86 0.063
210
c EPL210 Epilepsy, Progressive Myoclonic, 6 24 0.063
211
P EPS003 Episodic Ataxia 57 0.063
212
P HMP006 Hemiplegic Migraine 49 0.063
213
P BNG026 Benign Neonatal Seizures 37 0.063
214
PRV006 Pervasive Developmental Disorder 56 0.063
215
P CRN018 Coronary Artery Anomaly 69 0.063
216
P INF038 Influenza 77 0.063
217
FBR019 Fibromatosis 47 0.063
218
OBS002 Obsessive-Compulsive Disorder 68 0.063
219
BLD163 Blood Group, Dombrock System 23 0.062
220
EPL204 Epilepsy, Nocturnal Frontal Lobe, 4 21 0.062
221
CHR073 Choreatic Disease 40 0.062
222
P HYP086 Hypothyroidism 62 0.062
223
P MLT020 Multiple Sclerosis 85 0.062
224
c SZR022 Seizures, Benign Familial Neonatal, 1 39 0.062
225
CRB039 Cerebrovascular Disease 68 0.061
226
CRB037 Cerebral Palsy 70 0.061
227
PRP016 Paraplegia 53 0.061
228
HYP077 Hypertrichosis 49 0.061
229
c EPL201 Epilepsy, Familial Adult Myoclonic, 1 25 0.061
230
ADL051 Adolescence-Adult Electroclinical Syndrome 23 0.061
231
PRS047 Prostatitis 59 0.061
232
HYP066 Hyperglycemia 64 0.060
233
MLN008 Melanoma 72 0.060
234
P SLP006 Sleep Apnea 65 0.060
235
ATN005 Autonomic Dysfunction 51 0.060
236
P AST007 Astrocytoma 66 0.060
237
JVN026 Jeavons Syndrome 15 0.060
238
DNT005 Dentatorubral-Pallidoluysian Atrophy 50 0.060
239
MYC069 Myoclonic-Astastic Epilepsy 24 0.060
240
P BPL003 Bipolar Disorder 61 0.060
241
CHL058 Childhood Electroclinical Syndrome 23 0.059
242
c EPL155 Epilepsy, Progressive Myoclonic, 8 19 0.059
243
P PRP029 Porphyria 62 0.059
244
TRM010 Traumatic Brain Injury 54 0.059
245
P LNG032 Lung Cancer 99 0.059
246
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 53 0.058
247
INS001 Insulinoma 66 0.058
248
DWN001 Down Syndrome 70 0.058
249
MNT192 Mental Retardation, X-Linked, Syndromic, Hedera Type 32 0.058
250
HMM003 Hemimegalencephaly 47 0.058
251
EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 28 0.058
252
P FRG001 Fragile X Syndrome 69 0.058
253
MYC071 Myoclonic-Atonic Epilepsy 20 0.058
254
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 33 0.058
255
c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36 0.057
256
c EPL132 Epilepsy, Childhood Absence 2 17 0.057
257
PLY062 Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy 36 0.057
258
DRM006 Dermatitis 67 0.057
259
ART140 Arteries, Anomalies of 51 0.057
260
P LCT001 Lactic Acidosis 51 0.057
261
c FBR072 Febrile Seizures, Familial, 11 24 0.057
262
HYP056 Hypoglycemia 62 0.056
263
P MYP006 Myopia 56 0.056
264
P ECL001 Eclampsia 57 0.056
265
CRD223 Cardiac Arrhythmia 52 0.056
266
LNG099 Lung Disease 67 0.056
267
GLT019 Glut1 Deficiency Syndrome 2 31 0.056
268
BNG081 Benign Childhood Occipital Epilepsy, Panayiotopoulos Type 14 0.056
269
P MNN013 Meningitis 71 0.056
270
c EPL103 Epilepsy, Familial Adult Myoclonic, 5 21 0.056
271
P INF032 Infertility 59 0.056
272
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 35 0.056
273
EPL096 Epilepsy, Nocturnal Frontal Lobe, 5 20 0.056
274
NNT041 Neonatal Period Electroclinical Syndrome 21 0.055
275
P OST002 Osteoporosis 75 0.055
276
MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59 0.055
277
RSP006 Respiratory System Disease 63 0.055
278
SKN027 Skin Conditions 48 0.055
279
P ICH004 Ichthyosis 54 0.055
280
P RTN008 Retinitis Pigmentosa 81 0.054
281
P PNM007 Pneumonia 70 0.054
282
ATM095 Autoimmune Disease 66 0.054
283
PRM008 Parametritis 29 0.054
284
c EPL154 Epilepsy, Progressive Myoclonic, 9 21 0.054
285
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.054
286
c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41 0.054
287
c EPL053 Epilepsy, Familial Adult Myoclonic, 3 22 0.054
288
EPL074 Epilepsy, Hot Water, 1 13 0.054
289
P RHM011 Rheumatoid Arthritis 91 0.054
290
P SCH018 Schizencephaly 53 0.054
291
ATS327 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 2 20 0.054
292
EPL113 Epilepsy, Familial Temporal Lobe, 4 19 0.054
293
ALP092 Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan 18 0.054
294
P MYL006 Myeloid Leukemia 69 0.054
295
P HYP024 Hypoparathyroidism 55 0.053
296
GST050 Gastrointestinal System Disease 66 0.053
297
HYP080 Hypogonadism 54 0.053
298
c SZR023 Seizures, Benign Familial Neonatal, 2 31 0.053
299
P ART021 Arteriosclerosis 62 0.052
300
NRM005 Neuromuscular Disease 60 0.052
301
P ATR011 Atrial Fibrillation 68 0.052
302
P PRD006 Prader-Willi Syndrome 66 0.052
303
PCH002 Pachygyria 38 0.052
304
CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 35 0.052
305
c PTT029 Pitt-Hopkins-Like Syndrome 1 25 0.052
306
EPL150 Epilepsy, Familial Temporal Lobe, 7 17 0.052
307
c EPL188 Epilepsy, Progressive Myoclonic, 10 23 0.052
308
P KDN018 Kidney Disease 69 0.052
309
VRL011 Viral Infectious Disease 64 0.052
310
P ATS308 Autosomal Dominant Cerebellar Ataxia 47 0.051
311
GST045 Gastroenteritis 65 0.051
312
c TRC078 Trichohepatoenteric Syndrome 2 34 0.051
313
P NRN021 Neuronal Ceroid Lipofuscinosis 62 0.051
314
APN008 Apnea, Obstructive Sleep 67 0.051
315
P MYT002 Myotonic Dystrophy 50 0.051
316
RHM027 Rheumatic Disease 62 0.051
317
DWR001 Dwarfism 48 0.051
318
P INT068 Intestinal Disease 65 0.050
319
c SZR014 Seizures, Benign Familial Infantile, 1 25 0.050
320
ARC002 Arachnoiditis 45 0.050
321
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 35 0.050
322
c EPL207 Epilepsy, Progressive Myoclonic, 1b 23 0.050
323
GLB002 Glioblastoma 74 0.050
324
P LSS002 Lissencephaly 49 0.050
325
CRB045 Cerebellar Hypoplasia 48 0.050
326
P PHT010 Photoparoxysmal Response 1 31 0.050
327
EPL202 Epilepsy, Nocturnal Frontal Lobe, 2 14 0.050
328
URN009 Urinary System Disease 58 0.050
329
NRF026 Neurofibromatosis, Type Iv, of Riccardi 72 0.050
330
P NRC002 Narcolepsy 64 0.049
331
PHR003 Pharyngitis 59 0.049
332
P PRK057 Parkinson Disease, Late-Onset 78 0.049
333
P CLC063 Celiac Disease 1 65 0.049
334
P MWT001 Mowat-Wilson Syndrome 47 0.049
335
c MYC086 Myoclonic Epilepsy, Juvenile 4 17 0.049
336
P HYP061 Hypertrophic Cardiomyopathy 65 0.049
337
P ALC004 Alcohol Abuse 63 0.048
338
ACQ007 Acquired Immunodeficiency Syndrome 65 0.048
339
P GNG025 Gingival Fibromatosis 50 0.048
340
P CTS001 Cutis Laxa 62 0.048
341
c EPL107 Epilepsy, Familial Adult Myoclonic, 4 19 0.048
342
EPL152 Epilepsy, Familial Temporal Lobe, 8 15 0.048
343
BRJ001 Borjeson-Forssman-Lehmann Syndrome 54 0.048
344
ARC007 Arachnoid Cysts 39 0.048
345
P DRR001 Diarrhea 60 0.048
346
P ALP008 Alopecia 56 0.048
347
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 57 0.048
348
P PRC019 Precocious Puberty 52 0.048
349
SZR026 Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance 45 0.047
350
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 39 0.047
351
TBC004 Tobacco Addiction 55 0.047
352
APR001 Apraxia 52 0.047
353
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 43 0.047
354
LKD001 Leukodystrophy 57 0.047
355
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 56 0.047
356
ALX002 Alexithymia 40 0.047
357
P LYM026 Lymphoblastic Leukemia 66 0.047
358
PST028 Post-Traumatic Stress Disorder 59 0.047
359
BNF002 Bone Fracture 56 0.047
360
P HYD006 Hydrocephalus 68 0.046
361
DBT083 Diabetes Mellitus, Permanent Neonatal 62 0.046
362
c HRD010 Hereditary Spastic Paraplegia 68 0.046
363
PRV004 Periventricular Leukomalacia 53 0.046
364
PRD007 Periodontal Disease 64 0.046
365
BRN028 Brain Cancer 72 0.046
366
P ESP024 Esophagitis 64 0.046
367
FCL081 Focal Cortical Dysplasia, Type Ii 55 0.046
368
c FML023 Familial Hemiplegic Migraine 51 0.046
369
c EPL136 Epilepsy, Childhood Absence 5 13 0.046
370
P ENC011 Encephalomyopathy 40 0.046
371
SRC014 Sarcoma 68 0.046
372
INS024 Insulin-Like Growth Factor I 83 0.045
373
CRD119 Cardiac Arrest 63 0.045
374
BRN106 Burns 57 0.045
375
FNT004 Fainting 36 0.045
376
P RTN016 Retinal Degeneration 56 0.045
377
MNK001 Menkes Disease 64 0.045
378
P MTC133 Mitochondrial Myopathy 53 0.045
379
TRN012 Transient Global Amnesia 40 0.045
380
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26 0.045
381
P EXN002 Exanthem 62 0.045
382
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 36 0.045
383
P DYS021 Dysautonomia 47 0.045
384
P CRB088 Cerebral Atrophy 38 0.045
385
SVR097 Severe Cutaneous Adverse Reaction 64 0.044
386
ALC007 Alcohol Dependence 65 0.044
387
HYP043 Hyperandrogenism 50 0.044
388
IMM162 Immunoglobulin E Concentration, Serum 16 0.044
389
P MYL005 Myelofibrosis 75 0.044
390
P PMP001 Pemphigus 55 0.044
391
THY030 Thyroid Gland Disease 51 0.044
392
P HYP097 Hyperekplexia 57 0.043
393
P HYP263 Hypersomnia 45 0.043
394
c FBR073 Febrile Seizures, Familial, 1 19 0.043
395
ACR012 Aicardi Syndrome 49 0.043
396
NRD031 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 19 0.043
397
PSY014 Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism 18 0.043
398
EPL050 Epilepsy, Partial, with Pericentral Spikes 15 0.043
399
P NMN002 Niemann-Pick Disease 68 0.043
400
PLM010 Pulmonary Edema 57 0.043
401
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42 0.043
402
SPC005 Speech Disorder 44 0.043
403
c ATM075 Autoimmune Encephalitis 40 0.043
404
c BRT038 Baraitser-Winter Syndrome 1 37 0.043
405
P GRV001 Graves' Disease 62 0.043
406
STR020 Strabismus 55 0.043
407
P RSP003 Respiratory Failure 71 0.043
408
ADN018 Adenoma 63 0.043
409
c HYP805 Hypercholesterolemia, Autosomal Dominant, 3 47 0.043
410
MYT011 Myotonia 41 0.043
411
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 34 0.043
412
MSC157 Muscular Dystrophy, Duchenne Type 74 0.042
413
PHN003 Phenylketonuria 73 0.042
414
c CRD177 Ceroid Lipofuscinosis, Neuronal, 1 59 0.042
415
c EPS042 Episodic Ataxia, Type 1 57 0.042
416
P MGL013 Megalencephaly 54 0.042
417
TXC011 Toxocariasis 42 0.042
418
SPN331 Spondyloocular Syndrome 34 0.042
419
P BRG001 Brugada Syndrome 61 0.042
420
STT041 Stuttering 52 0.042
421
CRT012 Cortical Blindness 34 0.042
422
IMM136 Immune System Disease 57 0.042
423
ETN001 Eating Disorder 61 0.042
424
CNG034 Congestive Heart Failure 74 0.042
425
JNT002 Joint Disorders 60 0.042
426
c LBR014 Leber Congenital Amaurosis 4 48 0.042
427
RST001 Restless Legs Syndrome 54 0.042
428
WLL001 Williams-Beuren Syndrome 63 0.041
429
P HYP083 Hypopituitarism 59 0.041
430
VSC011 Vasculitis 66 0.041
431
CNS004 Constipation 57 0.041
432
P OLG002 Oligodendroglioma 59 0.041
433
P PSD015 Pseudohypoparathyroidism 50 0.041
434
ADN022 Adenylosuccinase Deficiency 37 0.041
435
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34 0.041
436
WLF002 Wolf-Hirschhorn Syndrome 54 0.041
437
c PRG133 Progressive Myoclonic Epilepsy Type 5 13 0.041
438
INF042 Infant Epilepsy with Migrant Focal Crisis 4 0.041
439
PRT037 Pertussis 70 0.041
440
GRW007 Growth Hormone Deficiency 52 0.041
441
NRS003 Neurosyphilis 44 0.041
442
MTC004 Mitochondrial Encephalomyopathy 42 0.041
443
P LVR013 Liver Disease 76 0.040
444
P SNS014 Sinusitis 62 0.040
445
P EHL001 Ehlers-Danlos Syndrome 61 0.040
446
P AML002 Amelogenesis Imperfecta 46 0.040
447
c FBR069 Febrile Seizures, Familial, 4 19 0.040
448
GST053 Gastric Cancer 84 0.040
449
P AMY004 Amyloidosis 69 0.040
450
P THR014 Thrombocytopenia 65 0.040
451
c BSL007 Basal Cell Carcinoma 66 0.040
452
P AGN002 Agnosia 61 0.040
453
GT001 Gout 60 0.040
454
GLB015 Glioblastoma Multiforme 68 0.040
455
TNS007 Taeniasis 41 0.040
456
GLT018 Glut1 Deficiency Syndrome 1 37 0.040
457
LGH007 Leigh Syndrome 68 0.039
458
P NPH012 Nephrotic Syndrome 60 0.039
459
XNT003 Xanthomatosis 53 0.039
460
GNG012 Gingival Overgrowth 52 0.039
461
P FNC043 Fanconi Anemia, Complementation Group E 52 0.039
462
CRD002 Cri-Du-Chat Syndrome 47 0.039
463
AMN006 Aminoaciduria 41 0.039
464
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35 0.039
465
P LTR001 Lateral Sclerosis 58 0.039
466
P PLY006 Polydactyly 57 0.039
467
MSC152 Muscular Dystrophy, Becker Type 64 0.039
468
TTH006 Tooth Disease 54 0.039
469
BRN080 Brain Ischemia 45 0.039
470
STR067 Stroke, Ischemic 84 0.039
471
P CRV039 Cervicitis 49 0.039
472
ANX004 Anoxia 49 0.039
473
CHR174 Christianson Syndrome 39 0.038
474
MCR237 Macrocephaly/megalencephaly Syndrome, Autosomal Recessive 31 0.038
475
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 24 0.038
476
CHR158 Charles Bonnet Syndrome 23 0.038
477
FLN005 Folinic Acid-Responsive Seizures 11 0.038
478
MYC061 Myoclonic Epilepsy in Non-Progressive Encephalopathies 4 0.038
479
GST092 Gastroesophageal Reflux 64 0.038
480
DNT012 Dental Caries 50 0.038
481
P HLP001 Holoprosencephaly 67 0.038
482
PRP083 Porphyria, Acute Intermittent 60 0.038
483
P INT030 Intracranial Aneurysm 58 0.038
484
HYP060 Hyperinsulinism 56 0.038
485
P PRN026 Porencephaly 50 0.038
486
c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49 0.038
487
P CHR071 Charcot-Marie-Tooth Disease 67 0.038
488
P CRN015 Cornelia De Lange Syndrome 65 0.038
489
P NTR004 Neutropenia 60 0.038
490
PST021 Postpartum Depression 54 0.038
491
PNN005 Panencephalitis, Subacute Sclerosing 44 0.038
492
P DYS005 Dyslexia 39 0.038
493
P TXP001 Toxoplasmosis 65 0.038
494
CRB011 Cerebrotendinous Xanthomatosis 64 0.038
495
P GLY013 Glycogen Storage Disease 61 0.038
496
P LPM005 Lipomatosis 50 0.038
497
c LSS005 Lissencephaly 1 46 0.038
498
LKM006 Leukomalacia 46 0.038
499
ADP007 Adie Pupil 41 0.038
500
ATS010 Autosomal Recessive Disease 40 0.038
501
c CRD185 Ceroid Lipofuscinosis, Neuronal, 6 33 0.038
502
RMN002 Ramon Syndrome 27 0.038
503
c EPL186 Epilepsy, Juvenile Myoclonic 9 17 0.038
504
ALL026 Allergic Hypersensitivity Disease 59 0.037
505
MSC033 Muscle Disorders 53 0.037
506
BNM029 Bone Mineral Density Quantitative Trait Locus 15 39 0.037
507
c PLN017 Peeling Skin Syndrome 1 35 0.037
508
BNM022 Bone Mineral Density Quantitative Trait Locus 8 32 0.037
509
GLL008 Gilles De La Tourette Syndrome 64 0.037
510
RBS001 Rabies 63 0.037
511
NRV006 Nervous System Cancer 61 0.037
512
PPL022 Papilloma 58 0.037
513
LPD016 Lipoid Proteinosis of Urbach and Wiethe 54 0.037
514
QDR001 Quadriplegia 54 0.037
515
MTS001 Mutism 42 0.037
516
MLN073 Melanosis, Neurocutaneous 38 0.037
517
PRR019 Perioral Myoclonia with Absences 15 0.037
518
P MTC003 Metachromatic Leukodystrophy 72 0.036
519
P HYP076 Hyperthyroidism 56 0.036
520
P CRD132 Cardiac Conduction Defect 53 0.036
521
c PNS012 Paine Syndrome 52 0.036
522
PRT014 Protein S Deficiency 47 0.036
523
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 24 0.036
524
c EPS035 Episodic Ataxia, Type 2 54 0.036
525
P PTT014 Pitt-Hopkins Syndrome 52 0.036
526
ANG037 Angiomatosis 36 0.036
527
RGD002 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 32 0.036
528
c SPS212 Spastic Ataxia 5, Autosomal Recessive 23 0.036
529
SCH012 Schizoaffective Disorder 51 0.036
530
MSC004 Muscle Tissue Disease 39 0.036
531
PCK003 Pick Disease of Brain 66 0.036
532
P ANT006 Antiphospholipid Syndrome 59 0.036
533
CHR003 Cherubism 57 0.036
534
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.036
535
c PRC016 Pre-Eclampsia 65 0.035
536
c ACT027 Acute Pancreatitis 61 0.035
537
P GLM007 Glomerulonephritis 61 0.035
538
MTB004 Metabolic Acidosis 49 0.035
539
SBP001 Subependymal Giant Cell Astrocytoma 50 0.035
540
c RNG029 Ring Chromosome 14 Syndrome 27 0.035
541
FTS001 Fetishism 27 0.035
542
IQS001 Iqsec2 18 0.035
543
CDK005 Cdkl5-Related Disorder 17 0.035
544
EPL138 Epilepsy, Rolandic, with Paroxysmal Exercise-Induced Dystonia and Writer's Cramp 14 0.035
545
DFN343 Deafness, Congenital, and Familial Myoclonic Epilepsy 10 0.035
546
c MNN043 Meningioma, Familial 69 0.035
547
P NRM001 Neuromyelitis Optica 67 0.035
548
MTC007 Mitochondrial Complex I Deficiency 56 0.035
549
P MGL001 Megaloblastic Anemia 52 0.035
550
CNT017 Central Nervous System Origin Vertigo 30 0.035
551
MNT302 Mental Retardation, X-Linked, Syndromic, Christianson Type 30 0.035
552
c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30 0.035
553
SYN057 Syndromic Intellectual Disability 27 0.035
554
ATH004 Athetosis 24 0.035
555
PCH018 Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts 16 0.035
556
LVR012 Liver Cirrhosis 73 0.035
557
P OST001 Osteopetrosis 70 0.035
558
P TRN020 Turner Syndrome 69 0.035
559
P PLY019 Polyneuropathy 58 0.035
560
P CYS018 Cystitis 57 0.035
561
TCD001 Tic Disorder 54 0.035
562
c BPL002 Bipolar I Disorder 50 0.035
563
DYS018 Dysostosis 48 0.035
564
CRB090 Cerebral Hypoxia 47 0.035
565
NRL004 Neuroleptic Malignant Syndrome 44 0.035
566
c JVN010 Juvenile Rheumatoid Arthritis 71 0.034
567
P MGR003 Migraine with Aura 56 0.034
568
P LMB006 Limb-Girdle Muscular Dystrophy 55 0.034
569
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47 0.034
570
SPS150 Spastic Ataxia, Charlevoix-Saguenay Type 46 0.034
571
AGN003 Agenesis of the Corpus Callosum with Peripheral Neuropathy 46 0.034
572
AYM001 Ayme-Gripp Syndrome 40 0.034
573
DVL001 Developmental Coordination Disorder 37 0.034
574
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.034
575
P HYP069 Hyperparathyroidism 58 0.034
576
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 53 0.034
577
P PTT006 Pituitary Adenoma 57 0.034
578
NPH009 Nephrolithiasis 57 0.034
579
P PMP005 Pemphigus Vulgaris 56 0.034
580
c MTR002 Mitral Valve Insufficiency 46 0.034
581
RST023 Resting Heart Rate, Variation in 42 0.034
582
P SCL057 Scoliosis, Isolated 1 28 0.034
583
NRL016 Neural Tube Defects 79 0.033
584
ACR007 Acromegaly 70 0.033
585
LPD008 Lipid Metabolism Disorder 59 0.033
586
GLC098 Glaucoma-Related Pigment Dispersion Syndrome 40 0.033
587
P TTR001 Tetralogy of Fallot 70 0.033
588
P KBK002 Kabuki Syndrome 1 62 0.033
589
P HMN010 Hemangioma 61 0.033
590
c CNG021 Congenital Toxoplasmosis 57 0.033
591
P STS008 Sotos Syndrome 1 56 0.033
592
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 54 0.033
593
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 51 0.033
594
P NGH001 Night Blindness 51 0.033
595
HMS001 Hemosiderosis 50 0.033
596
SKL017 Skeletal Dysplasias 48 0.033
597
SPS007 Spastic Cerebral Palsy 46 0.033
598
CNV002 Conversion Disorder 42 0.033
599
CHR078 Chorioretinitis 41 0.033
600
c CRD179 Ceroid Lipofuscinosis, Neuronal, 7 41 0.033
601
BSL009 Basal Ganglia Calcification 39 0.033
602
DYS004 Dyscalculia 30 0.033
603
c ART101 Aortic Valve Disease 2 65 0.033
604
MVM001 Movement Disease 40 0.033
605
P DLT002 Dilated Cardiomyopathy 76 0.032
606
PRP001 Propionic Acidemia 63 0.032
607
P ACT074 Acute Lymphocytic Leukemia 61 0.032
608
CLL003 Cellulitis 53 0.032
609
DRG003 Drug Dependence 51 0.032
610
GLC011 Galactose Epimerase Deficiency 46 0.032
611
c VRL007 Viral Encephalitis 53 0.032
612
GNG005 Gangliocytoma 50 0.032
613
ALX001 Alexia 44 0.032
614
MLT002 Multiple Symmetrical Lipomatosis 39 0.032
615
P KLN006 Koolen-De Vries Syndrome 38 0.032
616
BHR001 Behr Syndrome 36 0.032
617
ENC005 Encephalomalacia 36 0.032
618
CHR662 Chromosome 15q13.3 Deletion Syndrome 34 0.032
619
TMP011 Temple-Baraitser Syndrome 32 0.032
620
MYC078 Myoclonus and Ataxia 30 0.032
621
TRN006 Transvestism 30 0.032
622
P MNT319 Mental Retardation, Autosomal Dominant 20 28 0.032
623
CGN007 Cognitive Function 1, Social 27 0.032
624
LNR005 Linear Scleroderma 26 0.032
625
c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24 0.032
626
c MNT246 Mental Retardation, Autosomal Dominant 38 23 0.032
627
PRX072 Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder 22 0.032
628
NRS006 Norse 20 0.032
629
ACT191 Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion 17 0.032
630
ATX043 Ataxia with Myoclonic Epilepsy and Presenile Dementia 10 0.032
631
MYC077 Myoclonic Epilepsy, Hartung Type 7 0.032
632
THR100 Thrombocytopenic Purpura, Autoimmune 57 0.032
633
EWN002 Ewing's Family of Tumors 49 0.032
634
c PLM022 Pulmonary Valve Insufficiency 38 0.032
635
SPN186 Spinal Cord Injury 67 0.031
636
CRT072 Creutzfeldt-Jakob Disease 65 0.031
637
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 63 0.031
638
CRN036 Craniopharyngioma 63 0.031
639
P HYP370 Hypokalemic Periodic Paralysis, Type 1 59 0.031
640
FTL009 Fetal Akinesia Deformation Sequence 54 0.031
641
ART001 Arterial Tortuosity Syndrome 53 0.031
642
P TRN034 Transverse Myelitis 53 0.031
643
DSS008 Disease of Mental Health 51 0.031
644
CCN002 Cocaine Abuse 50 0.031
645
P PTS002 Ptosis 50 0.031
646
c BSL024 Basal Cell Carcinoma 1 42 0.031
647
CRB086 Cerebral Aneurysms 42 0.031
648
BRN018 Borna Disease 38 0.031
649
P AXN001 Axonal Neuropathy 38 0.031
650
P CRN037 Craniosynostosis 68 0.031
651
VLC001 Velocardiofacial Syndrome 64 0.031
652
NRR002 Norrie Disease 61 0.031
653
FCL009 Focal Dermal Hypoplasia 57 0.031
654
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 57 0.031
655
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 56 0.031
656
SMT008 Smith-Magenis Syndrome 54 0.031
657
P EPN002 Ependymoma 53 0.031
658
ACH005 Achalasia 52 0.031
659
P MYM013 Moyamoya Disease 1 50 0.031
660
CHR008 Choroiditis 47 0.031
661
FCL022 Focal Dystonia 47 0.031
662
c ADL066 Adult Neuronal Ceroid Lipofuscinosis 47 0.031
663
OCL069 Ocular Motor Apraxia 45 0.031
664
P CRN035 Cranial Nerve Palsy 42 0.031
665
P EPL116 Epileptic Encephalopathy, Childhood-Onset 41 0.031
666
PRD002 Periodic Limb Movement Disorder 40 0.031
667
c CRD166 Ceroid Lipofuscinosis, Neuronal, 11 39 0.031
668
MHR001 Mohr-Tranebjaerg Syndrome 39 0.031
669
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 36 0.031
670
c CRD226 Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive 36 0.031
671
SPS019 Spastic Paraparesis 33 0.031
672
DYS003 Dysgraphia 29 0.031
673
c CRD181 Ceroid Lipofuscinosis, Neuronal, 8 28 0.031
674
c ATS307 Autosomal Recessive Cerebellar Ataxia 27 0.031
675
c HYP248 Hyperprolinemia, Type I 27 0.031
676
c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24 0.031
677
c MNT226 Mental Retardation, Autosomal Dominant 31 22 0.031
678
c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21 0.031
679
XLN207 X-Linked Intellectual Disability-Epilepsy-Progressive Joint Contractures-Dysmorphism Syndrome 11 0.031
680
P HML002 Hemolytic Anemia 62 0.031
681
WLS001 Wilson Disease 72 0.030
682
P PRP003 Porphyria Cutanea Tarda 67 0.030
683
MCC012 Mccune-Albright Syndrome 65 0.030
684
CRP001 Carpal Tunnel Syndrome 64 0.030
685
MTR014 Motor Neuron Disease 62 0.030
686
P GCH001 Gaucher's Disease 62 0.030
687
c ESS001 Essential Tremor 58 0.030
688
P PRM011 Primary Ciliary Dyskinesia 57 0.030
689
P MLT074 Multiple Endocrine Neoplasia 55 0.030
690
P DBT005 Diabetes Insipidus 54 0.030
691
P SCK002 Sick Sinus Syndrome 53 0.030
692
PTH002 Pathological Gambling 53 0.030
693
MYL001 Myelitis 52 0.030
694
HYP691 Hypomelanosis of Ito 49 0.030
695
LYM127 Lymphatic Malformations 45 0.030
696
MLN014 Melnick-Needles Syndrome 37 0.030
697
MSC012 Muscular Dystrophy, Duchenne and Becker Type 35 0.030
698
ECH002 Echolalia 35 0.030
699
LYM133 Lymphoma, Hodgkin, Classic 78 0.030
700
P HNT016 Huntington Disease 78 0.030
701
LPD012 Lipoid Congenital Adrenal Hyperplasia 66 0.030
702
SNS001 Sensorineural Hearing Loss 59 0.030
703
NRT004 Neuritis 55 0.030
704
P TRC086 Trichohepatoenteric Syndrome 1 54 0.030
705
BSL008 Basal Ganglia Disease 44 0.030
706
GND003 Gonadal Disease 32 0.030
707
P MDL005 Medulloblastoma 76 0.029
708
LYM143 Lymphoma, Non-Hodgkin, Familial 71 0.029
709
DBT010 Diabetic Neuropathy 60 0.029
710
c CHR579 Chiari Malformation Type Ii 42 0.029
711
DYS009 Dysthymic Disorder 42 0.029
712
P SMK004 Smoking As a Quantitative Trait Locus 3 34 0.029
713
c TBR026 Tuberous Sclerosis 2 65 0.029
714
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 61 0.029
715
MRT001 Muir-Torre Syndrome 59 0.029
716
ASP002 Aspartylglucosaminuria 57 0.029
717
HYP042 Hypochondroplasia 57 0.029
718
WLF001 Wolff-Parkinson-White Syndrome 57 0.029
719
DGR001 Digeorge Syndrome 55 0.029
720
P FNC004 Fanconi Syndrome 54 0.029
721
ATR057 Atrioventricular Block 52 0.029
722
P ADM011 Adams-Oliver Syndrome 52 0.029
723
P ASP001 Asperger Syndrome 51 0.029
724
P GLM040 Glioma Susceptibility 1 51 0.029
725
PRN009 Paranoid Schizophrenia 49 0.029
726
GLD006 Goldberg-Shprintzen Syndrome 48 0.029
727
CMR002 Coumarin Resistance 44 0.029
728
MYX001 Myxopapillary Ependymoma 44 0.029
729
HMH004 Hemihyperplasia, Isolated 43 0.029
730
c L2H001 L-2-Hydroxyglutaric Aciduria 43 0.029
731
OLV002 Oliver Syndrome 41 0.029
732
MTC054 Mitochondrial Dna Depletion Syndrome 7 41 0.029
733
c PNT034 Pontocerebellar Hypoplasia, Type 2e 41 0.029
734
PST086 Posterior Cortical Atrophy 38 0.029
735
P KLF001 Kleefstra Syndrome 36 0.029
736
c SPR083 Sporadic Hemiplegic Migraine 33 0.029
737
PST048 Postural Orthostatic Tachycardia Syndrome 31 0.029
738
c FML306 Familial or Sporadic Hemiplegic Migraine 27 0.029
739
c STR092 Striatal Degeneration, Autosomal Dominant 2 27 0.029
740
ISL119 Isolated Optic Neuritis 23 0.029
741
SHK001 Shaken Baby Syndrome 21 0.029
742
ACC002 Accommodative Spasm 19 0.029
743
NRD042 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 7 0.029
744
c LPM012 Lipomatosis, Multiple 64 0.029
745
STF001 Stiff-Person Syndrome 61 0.029
746
P CFF008 Coffin-Siris Syndrome 1 59 0.029
747
P NPH005 Nephronophthisis 57 0.029
748
CYT008 Cytomegalovirus Infection 57 0.029
749
BTN003 Biotinidase Deficiency 56 0.029
750
CRB151 Cerebral Creatine Deficiency Syndrome 1 50 0.029
751
MTC056 Mitochondrial Dna Depletion Syndrome 4a 49 0.029
752
PLM017 Pulmonary Alveolar Microlithiasis 48 0.029
753
P ALT001 Alternating Hemiplegia of Childhood 48 0.029
754
CRB004 Cerebral Artery Occlusion 46 0.029
755
c CNT015 Central Sleep Apnea 45 0.029
756
IMN001 Iminoglycinuria 41 0.029
757
P HMF004 Hemifacial Spasm 41 0.029
758
MLT001 Multiple Chemical Sensitivity 40 0.029
759
HYP064 Hypogonadotropism 38 0.029
760
HYP034 Hypertensive Encephalopathy 34 0.029
761
MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 29 0.029
762
MTH079 Methylmalonic Acidemia and Homocysteinemia, Cblx Type 23 0.029
763
PLY150 Polykaryocytosis Inducer 20 0.029
764
SCN009 Scn1a-Related Seizure Disorders 6 0.029
765
c PRM196 Premature Ovarian Failure 1 68 0.028
766
P MTR004 Maturity-Onset Diabetes of the Young 62 0.028
767
P ANG015 Angioedema 57 0.028
768
HSH003 Hashimoto Thyroiditis 67 0.027
769
RCK004 Rickets 63 0.027
770
DMY004 Demyelinating Disease 58 0.027
771
P SCL018 Scoliosis 56 0.027
772
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 55 0.027
773
c GRV008 Graves Disease 1 52 0.027
774
NPH091 Nephrolithiasis, Calcium Oxalate 51 0.027
775
PRM003 Premature Ejaculation 47 0.027
776
IRN002 Iron Metabolism Disease 45 0.027
777
SMN008 Semantic Dementia 41 0.027
778
c HYP507 Hypotrichosis 1 37 0.027
779
APL001 Aplastic Anemia 74 0.027
780
P PLC011 Pilocytic Astrocytoma 63 0.027
781
P VNT002 Ventricular Septal Defect 59 0.027
782
CTR172 Citrullinemia, Classic 58 0.027
783
TBR011 Tuberculous Meningitis 54 0.027
784
ACT103 Acute Lymphoblastic Leukemia, Childhood 53 0.027
785
ECT026 Ectopic Pregnancy 52 0.027
786
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 51 0.027
787
CYC008 Cyclic Vomiting Syndrome 50 0.027
788
HYD002 Hydronephrosis 49 0.027
789
HMP009 Haemophilus Influenzae 49 0.027
790
P KRT007 Keratoconus 49 0.027
791
P SDR002 Siderosis 48 0.027
792
MYC005 Myocardial Stunning 47 0.027
793
CRB150 Cerebral Creatine Deficiency Syndrome 2 45 0.027
794
MCR037 Macroglossia 44 0.027
795
SYN046 Syndrome of Inappropriate Antidiuretic Hormone 44 0.027
796
EST005 Esotropia 43 0.027
797
c MGL018 Megaloblastic Anemia 1 43 0.027
798
LBS001 Lubs X-Linked Mental Retardation Syndrome 41 0.027
799
SPC010 Speech and Communication Disorders 40 0.027
800
c ADM005 Adams-Oliver Syndrome 1 38 0.027
801
GLS018 Glass Syndrome 38 0.027
802
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 37 0.027
803
P HYP111 Hyperprolinemia 36 0.027
804
AMY098 Amyotrophy, Monomelic 35 0.027
805
c DFN148 Deafness, Autosomal Dominant 16 33 0.027
806
c BLP048 Blepharospasm, Benign Essential 33 0.027
807
SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 32 0.027
808
c LSS037 Lissencephaly, X-Linked, 2 31 0.027
809
GBT001 Gaba-Transaminase Deficiency 31 0.027
810
TKN001 Takenouchi-Kosaki Syndrome 30 0.027
811
c VHW003 Vohwinkel Syndrome, Variant Form 29 0.027
812
ART103 Arthrogryposis, Mental Retardation, and Seizures 26 0.027
813
c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26 0.027
814
PRX034 Peroxisome Disorders 20 0.027
815
c SZR025 Seizures, Benign Familial Neonatal, 3 14 0.027
816
CHL065 Cholangiocarcinoma 70 0.026
817
P ASP006 Aspergillosis 65 0.026
818
P ECT062 Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 62 0.026
819
c PRM005 Primary Hyperparathyroidism 59 0.026
820
P FRD012 Friedreich Ataxia 1 58 0.026
821
P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57 0.026
822
P LRY019 Laryngitis 57 0.026
823
TXC002 Toxic Encephalopathy 55 0.026
824
CLF001 Cleft Lip 54 0.026
825
P BLM007 Bulimia Nervosa 1 53 0.026
826
P GLY010 Glycine Encephalopathy 52 0.026
827
CRT013 Carotid Stenosis 52 0.026
828
DBT084 Diabetes Mellitus, Ketosis-Prone 50 0.026
829
TLR001 Tularemia 44 0.026
830
LKP003 Leukoplakia 42 0.026
831
PRL019 Prolidase Deficiency 41 0.026
832
c MSC109 Mosaic Variegated Aneuploidy Syndrome 1 34 0.026
833
c SCH069 Schindler Disease, Type I 31 0.026
834
c PMP006 Pemphigus Vulgaris, Familial 26 0.026
835
ADT001 Auditory Agnosia 22 0.026
836
NVS017 Nevus, Epidermal 66 0.024
837
P HYP802 Hypocalcemia, Autosomal Dominant 1 64 0.024
838
DRR014 Darier-White Disease 60 0.024
839
c BCT007 Bacterial Meningitis 59 0.024
840
c SVR003 Severe Congenital Neutropenia 58 0.024
841
P ACT105 Acute Mountain Sickness 58 0.024
842
c PSD108 Pseudohypoparathyroidism, Type Ia 57 0.024
843
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.024
844
CHN070 Cohen-Gibson Syndrome 51 0.024
845
ACH022 Achalasia-Addisonianism-Alacrima Syndrome 50 0.024
846
DYS192 Dystonia, Dopa-Responsive 49 0.024
847
NNN026 Noonan Syndrome with Multiple Lentigines 49 0.024
848
P NNT009 Neonatal Diabetes Mellitus 48 0.024
849
CVR006 Cavernous Hemangioma 48 0.024
850
PLM175 Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 48 0.024
851
c SPN309 Spinocerebellar Ataxia 6 48 0.024
852
P D2H002 D-2-Hydroxyglutaric Aciduria 1 46 0.024
853
FCT005 Factor Xiii Deficiency 46 0.024
854
MDL009 Medullary Sponge Kidney 46 0.024
855
c ART061 Arthrogryposis, Distal, Type 2a 45 0.024
856
AMN003 Amnestic Disorder 45 0.024
857
HMF008 Hemifacial Atrophy, Progressive 44 0.024
858
c NNS007 Nonsyndromic Deafness 44 0.024
859
MCR017 Macrocytic Anemia 44 0.024
860
IMP006 Impulse Control Disorder 43 0.024
861
DLS001 Delusional Disorder 41 0.024
862
c ALZ056 Alzheimer Disease 3 41 0.024
863
DND001 Dandy-Walker Syndrome 41 0.024
864
SPR066 Superficial Siderosis 40 0.024
865
STR015 Stereotypic Movement Disorder 40 0.024
866
NRX001 Neuroaxonal Dystrophy 40 0.024
867
KLP001 Kleptomania 40 0.024
868
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 40 0.024
869
P GLT035 Glutaric Acidemia I 40 0.024
870
SPS005 Spastic Hemiplegia 39 0.024
871
ATS008 Autosomal Dominant Disease 39 0.024
872
c CRD216 Ceroid Lipofuscinosis, Neuronal, 9 39 0.024
873
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 39 0.024
874
CRB025 Carbohydrate Metabolic Disorder 38 0.024
875
c HYD060 Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 38 0.024
876
IMM003 Immunoglobulin Alpha Deficiency 37 0.024
877
P ANX007 Anauxetic Dysplasia 1 36 0.024
878
CHR659 Chromosome 22q11.2 Duplication Syndrome 36 0.024
879
c ICH051 Ichthyosis, Congenital, Autosomal Recessive 11 35 0.024
880
DSS010 Dissociative Disorder 34 0.024
881
CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 34 0.024
882
SPS004 Spastic Quadriplegia 34 0.024
883
BLP004 Blepharophimosis 34 0.024
884
MTC005 Mitochondrial Metabolism Disease 33 0.024
885
BP1002 Bap1 Tumor Predisposition Syndrome 33 0.024
886
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 33 0.024
887
BRT046 Baraitser-Winter Cerebrofrontofacial Syndrome 33 0.024
888
NRM009 Normokalemic Periodic Paralysis 32 0.024
889
FCL003 Facial Hemiatrophy 31 0.024
890
c NRM008 Neuromyelitis Optica Spectrum Disorder 30 0.024
891
c RCR002 Recurrent Hypersomnia 30 0.024
892
CHR523 Chromosome 15q11.2 Deletion Syndrome 29 0.024
893
MCR183 Microcephaly-Capillary Malformation Syndrome 29 0.024
894
ZKV001 Zika Virus Infection 28 0.024
895
PRQ002 Paraquat Poisoning 27 0.024
896
CHR190 Chromosome 12p Duplication 27 0.024
897
c TRS012 Trisomy 22 26 0.024
898
NRS005 Neurosarcoidosis 26 0.024
899
BNB002 Bainbridge-Ropers Syndrome 25 0.024
900
BRN097 Brainstem Auditory Evoked Responses 24 0.024
901
c PNT047 Pontocerebellar Hypoplasia, Type 2b 24 0.024
902
c RNG013 Ring Chromosome 18 23 0.024
903
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 23 0.024
904
FLY003 Flynn-Aird Syndrome 22 0.024
905
UND011 Undetermined Early-Onset Epileptic Encephalopathy 21 0.024
906
c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21 0.024
907
DYS189 Dyskinesia, Seizures, and Intellectual Developmental Disorder 17 0.024
908
INF053 Infantile Spasms Broad Thumbs 15 0.024
909
NPP007 Nipples Inverted 15 0.024
910
BNG077 Benign Idiopathic Neonatal Seizures 13 0.024
911
c MYP107 Myopathy, Lactic Acidosis, and Sideroblastic Anemia 3 11 0.024
912
PST092 Posttransplant Acute Limbic Encephalitis 11 0.024
913
LPC003 Lipoic Acid Synthetase Deficiency 10 0.024
914
FBR012 Fabry Disease 72 0.024
915
KWS002 Kawasaki Disease 72 0.024
916
FRN006 Frontotemporal Dementia 70 0.024
917
P CWD001 Cowden Disease 67 0.024
918
ADL030 Adult-Onset Still's Disease 65 0.024
919
CHL123 Chlamydia 64 0.024
920
OST003 Osteonecrosis 63 0.024
921
FTT001 Fatty Liver Disease 62 0.024
922
CLF027 Cleft Palate, Isolated 61 0.024
923
CHL068 Cholestasis 60 0.024
924
P HYP040 Hypospadias 60 0.024
925
c ATR087 Atrial Standstill 1 59 0.024
926
P FTL001 Fetal Alcohol Syndrome 59 0.024
927
ICH054 Ichthyosis, X-Linked 59 0.024
928
WST005 West Nile Virus 58 0.024
929
BRN004 Brain Edema 57 0.024
930
CLS005 Clouston Syndrome 54 0.024
931
PRP019 Peripheral Nervous System Disease 53 0.024
932
CLB010 Coloboma of Macula 52 0.024
933
PPL058 Papilloma of Choroid Plexus 47 0.024
934
ORL012 Oral Leukoplakia 45 0.024
935
PRS063 Paresthesia 36 0.024
936
c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27 0.024
937
HLX001 Helix Syndrome 25 0.024
938
c SZR016 Seizures, Benign Familial Infantile, 2 19 0.024
939
3P2001 3p25.3 Microdeletion Syndrome 19 0.024
940
c HMC039 Hemochromatosis, Type 1 71 0.023
941
c MYT021 Myotonic Dystrophy 1 68 0.023
942
P MCL013 Mucolipidosis Iv 67 0.023
943
c DNG003 Dengue Disease 66 0.023
944
BNC003 Bone Cancer 59 0.023
945
CHL067 Cholecystitis 58 0.023
946
DBF001 D-Bifunctional Protein Deficiency 57 0.023
947
ART017 Aortic Disease 57 0.023
948
P BRN009 Burning Mouth Syndrome 56 0.023
949
P DRM007 Dermatitis Herpetiformis 56 0.023
950
P DNG005 Dengue Virus 56 0.023
951
P SPN301 Spinocerebellar Ataxia 2 56 0.023
952
MTH078 Methylmalonic Aciduria, Cblb Type 56 0.023
953
P HRD011 Hereditary Spherocytosis 55 0.023
954
PNM001 Pneumocystosis 55 0.023
955
c MLG079 Malignant Pleural Mesothelioma 54 0.023
956
IMP005 Impotence 54 0.023
957
PHL006 Phelan-Mcdermid Syndrome 53 0.023
958
ATN002 Autonomic Nervous System Disease 51 0.023
959
ANV001 Anovulation 48 0.023
960
CHR222 Chromosome 1p36 Deletion Syndrome 46 0.023
961
CRV043 Cervical Dystonia 45 0.023
962
SXL003 Sexual Disorder 45 0.023
963
MDS022 Mediastinitis 44 0.023
964
BDY001 Body Dysmorphic Disorder 43 0.023
965
EXN001 Exanthema Subitum 42 0.023
966
FRN051 Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related 42 0.023
967
c PNT036 Pontocerebellar Hypoplasia, Type 6 40 0.023
968
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 38 0.023
969
MYP139 Myopathy, Proximal, and Ophthalmoplegia 38 0.023
970
PGM003 Pigmentation Disease 36 0.023
971
MNN028 Mononeuropathy of the Median Nerve, Mild 35 0.023
972
HYP264 Hypertonia 32 0.023
973
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32 0.023
974
DSS002 Dissociative Amnesia 29 0.023
975
SGM008 Segmental Dystonia 23 0.023
976
P JVN024 Juvenile Hereditary Hemochromatosis 22 0.023
977
c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21 0.023
978
c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21 0.023
979
c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19 0.023
980
c SZR020 Seizures, Benign Familial Infantile, 5 17 0.023
981
EWN003 Ewing Sarcoma 72 0.021
982
LYM007 Lymphangioleiomyomatosis 68 0.021
983
MLT157 Multiple System Atrophy 1 65 0.021
984
HMT002 Hematologic Cancer 64 0.021
985
P HYP055 Hypoplastic Left Heart Syndrome 63 0.021
986
DFC004 Deficiency Anemia 62 0.021
987
KRN002 Kearns-Sayre Syndrome 59 0.021
988
c ALZ049 Alzheimer Disease 2 59 0.021
989
UND005 Undifferentiated Pleomorphic Sarcoma 59 0.021
990
RLP002 Relapsing-Remitting Multiple Sclerosis 59 0.021
991
FLR002 Filariasis 58 0.021
992
PRT118 Protoporphyria, Erythropoietic 58 0.021
993
P SJG008 Sjogren Syndrome 58 0.021
994
IRN001 Iron Deficiency Anemia 55 0.021
995
CHR005 Chorioamnionitis 52 0.021
996
CCN001 Cocaine Dependence 52 0.021
997
CHN055 Chanarin-Dorfman Syndrome 51 0.021
998
PLP001 Pulpitis 50 0.021
999
DYS022 Dyschromatosis Symmetrica Hereditaria 49 0.021
1000
P PLG001 Pelger-Huet Anomaly 48 0.021
1001
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 47 0.021
1002
DST006 Diastolic Heart Failure 47 0.021
1003
CHR031 Chromoblastomycosis 45 0.021
1004
GRD001 Giardiasis 45 0.021
1005
P LSS036 Lissencephaly, X-Linked, 1 45 0.021
1006
c CHR095 Chronic Progressive External Ophthalmoplegia 44 0.021
1007
PHT003 Phototoxic Dermatitis 39 0.021
1008
c LYM110 Lymphedema, Hereditary, Ia 39 0.021
1009
CRN286 Corneal Dystrophy, Meesmann 39 0.021
1010
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38 0.021
1011
FLR001 Filarial Elephantiasis 37 0.021
1012
TTH007 Tooth Erosion 36 0.021
1013
c CTR098 Cataract 1, Multiple Types 35 0.021
1014
PRN039 Paraneoplastic Syndromes 35 0.021
1015
PND004 Pandas 34 0.021
1016
c KLF004 Kleefstra Syndrome 1 34 0.021
1017
c ACR088 Aicardi-Goutieres Syndrome 3 33 0.021
1018
c DRM040 Dermatitis Herpetiformis, Familial 32 0.021
1019
HSH002 Hashimoto's Encephalitis 31 0.021
1020
CHL109 Childhood Apraxia of Speech 31 0.021
1021
P SPC019 Specific Language Impairment 30 0.021
1022
OCL039 Oculoectodermal Syndrome 30 0.021
1023
MST020 Mast Cell Activation Syndrome 30 0.021
1024
MHM001 Mehmo Syndrome 30 0.021
1025
DYS182 Dysphasia, Familial Developmental 29 0.021
1026
MBD001 Mbd5 Haploinsufficiency 28 0.021
1027
HDG004 Hodgkin's Granuloma 28 0.021
1028
c HYP699 Hyperekplexia 1 25 0.021
1029
c MNT270 Mental Retardation, Autosomal Recessive 53 23 0.021
1030
c MNT248 Mental Retardation, X-Linked 102 22 0.021
1031
c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21 0.021
1032
c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21 0.021
1033
c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21 0.021
1034
SCH031 Scholte Syndrome 21 0.021
1035
c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21 0.021
1036
SPS207 Spastic Paraplegia and Psychomotor Retardation with or Without Seizures 21 0.021
1037
HND015 Hand Skill, Relative 19 0.021
1038
c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18 0.021
1039
BLD138 Blood Group--Diego System 18 0.021
1040
LFR008 L-Ferritin Deficiency 16 0.021
1041
c SZR024 Seizures, Benign Familial Neonatal, Autosomal Recessive 13 0.021
1042
c MLT156 Multiple Endocrine Neoplasia, Type I 70 0.019
1043
P NJM001 Nijmegen Breakage Syndrome 69 0.019
1044
DMN031 Dementia, Lewy Body 66 0.019
1045
OST017 Osteomyelitis 64 0.019
1046
FLL027 Fallopian Tube Carcinoma 62 0.019
1047
HPT019 Hepatic Encephalopathy 59 0.019
1048
c NMN013 Niemann-Pick Disease, Type a 59 0.019
1049
CFF002 Coffin-Lowry Syndrome 58 0.019
1050
INT146 Intervertebral Disc Disease 58 0.019
1051
P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 57 0.019
1052
P DST002 Distal Arthrogryposis 57 0.019
1053
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 57 0.019
1054
P MLT007 Multiple Epiphyseal Dysplasia 57 0.019
1055
HNT002 Hantavirus Pulmonary Syndrome 57 0.019
1056
NNL002 Nonalcoholic Steatohepatitis 56 0.019
1057
P ATR001 Atrioventricular Septal Defect 56 0.019
1058
APP015 Apparent Mineralocorticoid Excess 54 0.019
1059
GLC012 Galactosialidosis 53 0.019
1060
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 53 0.019
1061
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 53 0.019
1062
PSD012 Pseudoachondroplasia 52 0.019
1063
P MNN019 Mannosidosis, Beta a, Lysosomal 52 0.019
1064
DBT004 Diabetic Polyneuropathy 51 0.019
1065
c GLY007 Glycogen Storage Disease Iv 51 0.019
1066
MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 51 0.019
1067
ANG018 Angiomyolipoma 50 0.019
1068
PRP007 Priapism 49 0.019
1069
GRS011 Gerstmann-Straussler Disease 48 0.019
1070
c HYP293 Hypophosphatasia, Adult 48 0.019
1071
c HYP292 Hypophosphatasia, Infantile 48 0.019
1072
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 48 0.019
1073
P MYS033 Miyoshi Muscular Dystrophy 1 48 0.019
1074
HYD061 Hydrocephalus, Normal-Pressure 47 0.019
1075
IDP035 Idiopathic Achalasia 47 0.019
1076
ISL014 Isolated Growth Hormone Deficiency, Type Ia 47 0.019
1077
LYM004 Lymphoid Interstitial Pneumonia 47 0.019
1078
MCL075 Macular Dystrophy, Corneal 46 0.019
1079
c SPN100 Spinocerebellar Ataxia 27 44 0.019
1080
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 43 0.019
1081
HRT030 Hartsfield Syndrome 43 0.019
1082
c LKD010 Leukodystrophy, Hypomyelinating, 2 43 0.019
1083
LCR008 Lacrimal Apparatus Disease 43 0.019
1084
GNT031 Genitopatellar Syndrome 43 0.019
1085
BCL014 B-Cell Growth Factor 42 0.019
1086