Search results for "neurologic diseases"

The MalaCard for "neurologic diseases" has been retired.
Searching MalaCards for entries containing "neurologic diseases"

2657 hits were found for 'neurologic diseases'

# Family MCID Name MIFTS Score
1
c GRS013 Griscelli Syndrome, Type 1 34 3.777
2
CHR282 Chronic Infantile Neurological Cutaneous Articular Syndrome 26 3.498
3
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 3.232
4
INF148 Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 17 3.077
5
P MCH002 Machado-Joseph Disease 62 2.599
6
PCW002 Pcwh Syndrome 28 2.399
7
CNC002 Cinca Syndrome 56 2.210
8
P GRS014 Griscelli Syndrome, Type 2 55 1.988
9
LYM017 Lyme Disease 63 1.869
10
NRL012 Neurological Manifestations of Pompe Disease 6 1.790
11
LYM055 Lyme Disease - Neurological Complications 5 1.790
12
MGL012 Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency 24 1.783
13
P NMN012 Niemann-Pick Disease Type C, Juvenile Neurologic Onset 16 1.373
14
c NMN009 Niemann-Pick Disease Type C, Late Infantile Neurologic Onset 15 1.278
15
c NMN010 Niemann-Pick Disease Type C, Severe Early Infantile Neurologic Onset 15 1.278
16
c NMN011 Niemann-Pick Disease Type C, Adult Neurologic Onset 16 1.273
17
ATH012 Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 15 1.273
18
FGN001 Feigenbaum Bergeron Richardson Syndrome 6 1.260
19
c GRS012 Griscelli Syndrome, Type 3 32 1.256
20
CRB009 Cerebritis 38 0.146
21
P ENC018 Encephalopathy 59 0.128
22
ISC004 Ischemia 59 0.122
23
NRN002 Neuronitis 42 0.121
24
ART111 Artery Disease 57 0.121
25
P NRV007 Nervous System Disease 71 0.119
26
P HRT032 Heart Disease 76 0.117
27
STR067 Stroke, Ischemic 77 0.110
28
DMN002 Dementia 64 0.106
29
c CNT035 Central Nervous System Disease 59 0.103
30
BRN071 Brain Injury 52 0.101
31
P NRP001 Neuropathy 60 0.095
32
P CRN211 Coronary Artery Disease 75 0.094
33
PCK002 Pick Disease 67 0.094
34
WLS001 Wilson Disease 72 0.092
35
P HPT021 Hepatitis 70 0.092
36
MVM001 Movement Disease 54 0.092
37
P ALZ034 Alzheimer Disease 93 0.091
38
MTH009 Mouth Disease 63 0.090
39
P ATX004 Ataxia 53 0.089
40
P PRK057 Parkinson Disease, Late-Onset 72 0.088
41
P LVR013 Liver Disease 72 0.087
42
VSC007 Vascular Disease 67 0.086
43
PRP027 Peripheral Vascular Disease 69 0.085
44
P ENC004 Encephalitis 61 0.085
45
CRH001 Crohn's Disease 76 0.084
46
LNG099 Lung Disease 62 0.084
47
PHY002 Physical Disorder 44 0.083
48
P MNN013 Meningitis 65 0.083
49
P PRP019 Peripheral Nervous System Disease 54 0.082
50
NRM005 Neuromuscular Disease 57 0.082
51
ANR040 Aneurysm 57 0.081
52
BSL008 Basal Ganglia Disease 43 0.080
53
P EPL164 Epilepsy 66 0.080
54
P MYP004 Myopathy 67 0.079
55
NTR005 Nutritional Deficiency Disease 39 0.076
56
FBR012 Fabry Disease 69 0.076
57
P LYM118 Lymphoma 70 0.075
58
AMY066 Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex 57 0.075
59
P LKM002 Leukemia 70 0.074
60
TRM010 Traumatic Brain Injury 52 0.074
61
BRN080 Brain Ischemia 41 0.073
62
P CRV039 Cervicitis 44 0.072
63
RSP006 Respiratory System Disease 62 0.071
64
P NMN002 Niemann-Pick Disease 63 0.071
65
CRD119 Cardiac Arrest 63 0.070
66
RTN023 Retinitis 49 0.070
67
SPS057 Spasticity 42 0.070
68
GLT021 Glutaricaciduria, Type I 48 0.069
69
P MSC033 Muscle Disorders 52 0.069
70
P CHR071 Charcot-Marie-Tooth Disease 66 0.069
71
P HYP071 Hypersensitivity Reaction Type Ii Disease 51 0.069
72
MSC004 Muscle Tissue Disease 36 0.068
73
SPN369 Spinal Disease 41 0.068
74
SCK005 Sickle Cell Disease 49 0.068
75
P ART022 Arthritis 75 0.067
76
ATN002 Autonomic Nervous System Disease 47 0.066
77
SCR035 Sacral Agenesis with Vertebral Anomalies 33 0.066
78
ISC006 Ischemic Heart Disease 68 0.065
79
HGH001 High Pressure Neurological Syndrome 32 0.065
80
HDN002 Head Injury 45 0.065
81
P CLC005 Celiac Disease 67 0.065
82
CNN005 Connective Tissue Disease 61 0.064
83
P ACR061 Aicardi-Goutieres Syndrome 1, Dominant and Recessive 60 0.063
84
LRN003 Learning Disability 51 0.063
85
CRT016 Carotid Artery Disease 55 0.063
86
P THY032 Thyroiditis 54 0.063
87
P CRT072 Creutzfeldt-Jakob Disease 63 0.063
88
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 42 0.062
89
c PRK031 Parkinson Disease 1 55 0.062
90
DMY004 Demyelinating Disease 55 0.062
91
BRN018 Borna Disease 42 0.062
92
P LPS004 Lupus Erythematosus 63 0.062
93
RHM027 Rheumatic Disease 57 0.062
94
P PNM007 Pneumonia 66 0.062
95
MTR014 Motor Neuron Disease 59 0.062
96
DYS073 Dysphagia 49 0.062
97
c CRN172 Coronary Heart Disease 3 21 0.061
98
HV1006 Hiv-1 82 0.061
99
MLR004 Malaria 79 0.061
100
CND002 Conduct Disorder 56 0.060
101
P BRS047 Breast Cancer 100 0.060
102
TTH006 Tooth Disease 52 0.059
103
SKN016 Skin Disease 68 0.059
104
CNV018 Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 44 0.059
105
c SYS001 Systemic Lupus Erythematosus 87 0.059
106
MLT077 Multiple Sclerosis, Disease Progression, Modifier of 76 0.059
107
c PND001 Pain Disorder 55 0.059
108
c CRN214 Coronary Heart Disease 5 23 0.059
109
ADR007 Adrenoleukodystrophy 71 0.059
110
P MYM002 Moyamoya Disease 60 0.059
111
PRN039 Paraneoplastic Syndromes 33 0.059
112
P LTR001 Lateral Sclerosis 52 0.058
113
SPN041 Spinal Cord Disease 48 0.058
114
P DRV001 Dravet Syndrome 68 0.057
115
ALN001 Aland Island Eye Disease 45 0.057
116
P SZR006 Seizure Disorder 57 0.057
117
SPN186 Spinal Cord Injury 62 0.057
118
ACR041 Acromelic Frontonasal Dysostosis 46 0.057
119
BRT030 Birth Defects 43 0.057
120
P HNT016 Huntington Disease 80 0.057
121
ART021 Arteriosclerosis 59 0.057
122
c CRN174 Coronary Heart Disease 2 22 0.057
123
P END033 Endocarditis 52 0.057
124
P ATX030 Ataxia-Telangiectasia 76 0.057
125
c CRN175 Coronary Heart Disease 4 21 0.057
126
BRN028 Brain Cancer 70 0.056
127
P HYD006 Hydrocephalus 67 0.056
128
P TRM003 Tremor 54 0.056
129
c NMN015 Niemann-Pick Disease, Type C1 64 0.055
130
GDS001 Good Syndrome 45 0.055
131
ATH003 Atherosclerosis 62 0.055
132
ATN007 Autoinflammation, Lipodystrophy, and Dermatosis Syndrome 66 0.054
133
P PRP029 Porphyria 58 0.054
134
SLP005 Sleep Disorder 53 0.054
135
P OBS005 Obesity 93 0.054
136
WLL006 Wells Syndrome 56 0.054
137
VTM002 Vitamin B12 Deficiency 44 0.054
138
P MTC003 Metachromatic Leukodystrophy 71 0.054
139
ATM052 Autoimmune Disease 1 28 0.054
140
CRB004 Cerebral Artery Occlusion 46 0.054
141
BRN004 Brain Edema 51 0.054
142
P SCH015 Schizophrenia 76 0.053
143
HDC001 Headache 54 0.053
144
P URF003 Urofacial Syndrome 1 52 0.053
145
P CRN178 Coronary Heart Disease 6 24 0.053
146
GLB003 Globe Disease 35 0.053
147
END072 Endotheliitis 42 0.053
148
BNS002 Bone Structure Disease 36 0.053
149
ALR002 Al-Raqad Syndrome 36 0.053
150
P PLY019 Polyneuropathy 54 0.053
151
SCK003 Sickle Cell Anemia 68 0.052
152
INT066 Interstitial Lung Disease 58 0.052
153
PRP080 Peripheral Artery Disease 36 0.052
154
PRN033 Paraneoplastic Neurologic Disorders 28 0.052
155
DSS008 Disease of Mental Health 55 0.052
156
P LNG032 Lung Cancer 94 0.052
157
P INT068 Intestinal Disease 61 0.052
158
CNV002 Conversion Disorder 42 0.052
159
P DYS154 Dystonia 64 0.051
160
P INF038 Influenza 74 0.051
161
IMM136 Immune System Disease 50 0.051
162
PRM097 Primary Immunodeficiency Disease 61 0.051
163
C3D001 C3 Deficiency 53 0.051
164
P RHM011 Rheumatoid Arthritis 88 0.051
165
MDD011 Mood Disorder 61 0.050
166
HYP266 Hypoxia 55 0.050
167
P CRB042 Cerebellar Ataxia 64 0.050
168
P MSC005 Muscular Dystrophy 64 0.050
169
P HYP607 Hypercholesterolemia, Familial 77 0.050
170
ERD001 Erdheim-Chester Disease 51 0.050
171
GST050 Gastrointestinal System Disease 54 0.050
172
SWL001 Swallowing Disorders 34 0.050
173
MLT021 Multiple System Atrophy 71 0.050
174
EYD002 Eye Disease 63 0.050
175
CRB085 Cerebral Hemorrhage 43 0.050
176
c ATM007 Autoimmune Disease of Central Nervous System 28 0.049
177
SXL003 Sexual Disorder 47 0.049
178
PLM129 Pulmonary Disease, Chronic Obstructive 62 0.049
179
P MYC007 Myocardial Infarction 79 0.049
180
17B002 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency 34 0.049
181
P RTT002 Rett Syndrome 78 0.049
182
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 46 0.049
183
GST092 Gastroesophageal Reflux 61 0.048
184
CHL071 Child Syndrome 58 0.048
185
CRB031 Cerebral Arterial Disease 31 0.048
186
CRB037 Cerebral Palsy 54 0.048
187
GLC006 Galactosemia 67 0.048
188
URN009 Urinary System Disease 53 0.048
189
KDS001 Kid Syndrome 53 0.048
190
CHG001 Chagas Disease 62 0.048
191
ART017 Aortic Disease 58 0.048
192
P CRD011 Cardiomyopathy 67 0.047
193
TBR010 Tuberculosis 69 0.047
194
PLY020 Polyradiculoneuropathy 44 0.047
195
P AST005 Asthma 82 0.047
196
PRN023 Prion Disease 48 0.047
197
P GLY013 Glycogen Storage Disease 59 0.047
198
ATN005 Autonomic Dysfunction 45 0.047
199
P ALX003 Alexander Disease 64 0.047
200
P MCR010 Microcephaly 58 0.047
201
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 38 0.047
202
P HRP006 Herpes Simplex 65 0.047
203
P LKD001 Leukodystrophy 58 0.047
204
VSC011 Vasculitis 62 0.047
205
P NRV006 Nervous System Cancer 62 0.047
206
OPT006 Optic Nerve Disease 51 0.046
207
RTN018 Retinal Disease 56 0.046
208
c AMY091 Amyotrophic Lateral Sclerosis 1 78 0.046
209
VSC002 Vascular Dementia 54 0.046
210
P HML002 Hemolytic Anemia 60 0.046
211
PHN003 Phenylketonuria 73 0.046
212
PRP016 Paraplegia 49 0.046
213
BLL006 Bullous Pemphigoid 58 0.046
214
MYL001 Myelitis 48 0.046
215
MTH039 Methylmalonic Aciduria, Mut(0) Type 34 0.046
216
MRG013 Mirage Syndrome 26 0.046
217
TRN015 Transient Cerebral Ischemia 56 0.046
218
HND002 Hand, Foot and Mouth Disease 48 0.045
219
P TYS001 Tay-Sachs Disease 71 0.045
220
P MCP010 Mucopolysaccharidosis 58 0.045
221
P PNC044 Pancreatitis 60 0.045
222
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 29 0.045
223
c INH020 Inherited Metabolic Disorder 49 0.045
224
NWC001 Newcastle Disease 54 0.045
225
SPS019 Spastic Paraparesis 34 0.045
226
c BLD124 Bleeding Disorder, Platelet-Type, 11 42 0.045
227
c PRK030 Parkinson Disease 4 39 0.044
228
ADJ001 Adjustment Disorder 38 0.044
229
OCL069 Ocular Motor Apraxia 44 0.044
230
IMP003 Impaired Renal Function Disease 37 0.044
231
STT001 Status Epilepticus 59 0.044
232
3MT017 3-Methylglutaconic Aciduria, Type Vii, with Cataracts, Neurologic Involvement and Neutropenia 22 0.044
233
c CHR417 Chronic Graft Versus Host Disease 50 0.044
234
c PRK025 Parkinson Disease 10 42 0.044
235
c PRK045 Parkinson Disease 5 44 0.044
236
FST001 Foster-Kennedy Syndrome 34 0.044
237
INF034 Infective Endocarditis 50 0.044
238
HMT018 Hematopoietic Stem Cell Transplantation 41 0.043
239
P ANT006 Antiphospholipid Syndrome 58 0.043
240
VND001 Vein Disease 52 0.043
241
GST045 Gastroenteritis 60 0.043
242
c BCT007 Bacterial Meningitis 54 0.043
243
c ESS001 Essential Tremor 61 0.043
244
DFC004 Deficiency Anemia 65 0.043
245
ADL030 Adult-Onset Still's Disease 57 0.043
246
P ADD001 Addison's Disease 62 0.043
247
P CRB059 Cerebellar Degeneration 32 0.043
248
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 0.043
249
BLD053 Blood Platelet Disease 46 0.042
250
BLD044 Bladder Disease 51 0.042
251
P CHR345 Chronic Pain 49 0.042
252
P TXP001 Toxoplasmosis 60 0.042
253
LYS002 Lysosomal Storage Disease 52 0.042
254
LKN001 Leukoencephalopathy with Vanishing White Matter 54 0.042
255
MYC033 Myoclonus 41 0.042
256
ACD009 Acid-Labile Subunit, Deficiency of 48 0.042
257
c HRD010 Hereditary Spastic Paraplegia 65 0.042
258
P NRC002 Narcolepsy 62 0.042
259
P SPS003 Spastic Diplegia 53 0.041
260
APH002 Aphasia 53 0.041
261
TRP002 Tropical Spastic Paraparesis 57 0.041
262
ATM053 Autoimmune Disease 2 19 0.041
263
PRD011 Proud Syndrome 42 0.041
264
P HML001 Hemolytic-Uremic Syndrome 50 0.041
265
MNK001 Menkes Disease 61 0.041
266
ART016 Aortic Aneurysm 67 0.041
267
VNH007 Von Hippel-Lindau Syndrome 69 0.041
268
CYT008 Cytomegalovirus Infection 51 0.041
269
ACH004 Achondroplasia 66 0.041
270
ANX002 Anxiety Disorder 69 0.041
271
P RSP003 Respiratory Failure 70 0.041
272
c MTR002 Mitral Valve Insufficiency 44 0.041
273
P LGH007 Leigh Syndrome 70 0.041
274
MJR011 Major Depressive Disorder and Accelerated Response to Antidepressant Drug Treatment 60 0.041
275
ATM012 Autoimmune Disease of Blood 37 0.041
276
P INT030 Intracranial Aneurysm 54 0.041
277
P DBT083 Diabetes Mellitus, Permanent Neonatal 53 0.041
278
P CHR348 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 36 0.041
279
P BCL006 B-Cell Lymphomas 64 0.040
280
CRB011 Cerebrotendinous Xanthomatosis 60 0.040
281
P CLL015 Collagen Disease 49 0.040
282
HMN014 Human Immunodeficiency Virus Infectious Disease 49 0.040
283
WHP001 Whipple Disease 48 0.040
284
IMM127 Immune System Cancer 42 0.040
285
P MSC003 Muscular Atrophy 51 0.040
286
P CRB019 Cerebral Amyloid Angiopathy 58 0.040
287
CRB149 Cerebroretinal Microangiopathy with Calcifications and Cysts 43 0.040
288
c MCP038 Mucopolysaccharidosis Iva 49 0.040
289
RST001 Restless Legs Syndrome 54 0.040
290
P MYS003 Myasthenia Gravis 65 0.040
291
TNP003 Tn Polyagglutination Syndrome, Somatic 44 0.040
292
CRB027 Cerebellar Disease 47 0.040
293
P SYP003 Syphilis 53 0.039
294
ETH011 Ethylmalonic Encephalopathy 59 0.039
295
ATM054 Autoimmune Disease 3 18 0.039
296
GNR004 Generalized Anxiety Disorder 51 0.039
297
CNT098 Central Core Disease 66 0.039
298
BTN003 Biotinidase Deficiency 56 0.039
299
PSY004 Psychotic Disorder 67 0.039
300
ATR060 Atrial Standstill, Digenic 53 0.039
301
P ESP024 Esophagitis 62 0.039
302
P AMY004 Amyloidosis 64 0.039
303
STF001 Stiff-Person Syndrome 56 0.039
304
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60 0.039
305
SPC010 Speech and Communication Disorders 46 0.039
306
LSC001 Lesch-Nyhan Syndrome 61 0.039
307
ADM013 Adamantinoma of Long Bones 59 0.039
308
BLD054 Blood Protein Disease 40 0.038
309
P LYM026 Lymphoblastic Leukemia 60 0.038
310
P ANG001 Angelman Syndrome 61 0.038
311
c GCH015 Gaucher Disease, Type I 66 0.038
312
PRM025 Primary Bacterial Infectious Disease 43 0.038
313
P OCL013 Oculodentodigital Dysplasia 59 0.038
314
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 42 0.038
315
PYR010 Peyronie's Disease 53 0.038
316
GLC008 Glucose Metabolism Disease 47 0.038
317
CSY001 C Syndrome 49 0.038
318
MNT002 Mental Depression 54 0.038
319
CRT015 Carotid Artery Occlusion 43 0.038
320
LYM024 Lymphatic System Disease 50 0.038
321
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 55 0.038
322
RSD004 Rosai-Dorfman Disease 39 0.038
323
P HMR003 Hemorrhagic Disease 57 0.038
324
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.037
325
ORN006 Ornithine Transcarbamylase Deficiency 61 0.037
326
P UVT001 Uveitis 59 0.037
327
c GLY008 Glycogen Storage Disease Ii 61 0.037
328
MRC001 Marchiafava Bignami Disease 50 0.037
329
CYS013 Cystinuria 63 0.037
330
P SLP006 Sleep Apnea 61 0.037
331
VSC006 Vascular Cancer 54 0.037
332
PRM183 Primary Aldosteronism, Seizures, and Neurologic Abnormalities 21 0.037
333
P SCL018 Scoliosis 56 0.037
334
DRG012 Drug Rash with Eosinophilia and Systemic Symptoms 35 0.037
335
CTS002 Cat-Scratch Disease 45 0.037
336
VRL011 Viral Infectious Disease 59 0.037
337
P NTR004 Neutropenia 59 0.037
338
P AGN002 Agnosia 56 0.037
339
HMP005 Hemiplegia 54 0.037
340
CNT067 Central Cord Syndrome 24 0.037
341
SPH010 Sphingolipidosis 45 0.036
342
IMM121 Immunodeficiency 26, with or Without Neurologic Abnormalities 22 0.036
343
TRY001 Trypanosomiasis 52 0.036
344
EPD005 Epidural Abscess 32 0.036
345
P KRB001 Krabbe Disease 69 0.036
346
CHR105 Choreoacanthocytosis 45 0.036
347
P NRM001 Neuromyelitis Optica 59 0.036
348
ESP023 Esophageal Disease 53 0.036
349
P CLR023 Colorectal Cancer 97 0.036
350
c ACT134 Acute Liver Failure 50 0.036
351
SBC016 Subacute Delirium 27 0.036
352
PLG004 Plagiocephaly 42 0.036
353
P CRB088 Cerebral Atrophy 42 0.036
354
ATM055 Autoimmune Disease 4 18 0.036
355
P TRN034 Transverse Myelitis 48 0.036
356
P CRN035 Cranial Nerve Palsy 43 0.036
357
c MCP026 Mucopolysaccharidosis Type Iiib 40 0.036
358
P STR020 Strabismus 53 0.036
359
ADN018 Adenoma 59 0.036
360
P DYS021 Dysautonomia 47 0.036
361
BRC012 Brucellosis 65 0.036
362
CHR073 Choreatic Disease 40 0.036
363
INT309 Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 29 0.036
364
P SLD010 Sialidosis, Type I 54 0.036
365
P HYP086 Hypothyroidism 65 0.036
366
END030 End Stage Renal Failure 52 0.035
367
HYP037 Hyperhomocysteinemia 50 0.035
368
P RNL014 Renal Cell Carcinoma 81 0.035
369
MLD001 Melioidosis 67 0.035
370
CRB090 Cerebral Hypoxia 48 0.035
371
P DRR001 Diarrhea 51 0.035
372
c MCP009 Mucopolysaccharidosis Ii 62 0.035
373
CRB033 Cerebral Degeneration 46 0.035
374
P FRD001 Friedreich Ataxia 62 0.035
375
c CRN173 Coronary Heart Disease 8 20 0.035
376
PRP083 Porphyria, Acute Intermittent 55 0.035
377
P INT063 Intellectual Disability 53 0.035
378
ADS006 Aids - Neurological Complications 14 0.035
379
P SYR001 Syringomyelia 47 0.035
380
ASP007 Aspiration Pneumonia 46 0.035
381
ASP003 Aseptic Meningitis 51 0.035
382
OCL009 Ocular Cancer 62 0.035
383
CDS001 Cadasil 50 0.035
384
APR001 Apraxia 48 0.035
385
P HYP265 Hypotonia 39 0.035
386
P SJG002 Sjogren-Larsson Syndrome 51 0.035
387
P MTC069 Mitochondrial Disorders 52 0.035
388
RDN001 Reading Disorder 39 0.035
389
P HMP002 Hemophagocytic Lymphohistiocytosis 63 0.035
390
HDG012 Hodgkin Lymphoma 73 0.035
391
LMB024 Limbic Encephalitis 36 0.035
392
ANS006 Anosognosia 28 0.035
393
P LPR003 Leprosy 68 0.035
394
PRS047 Prostatitis 56 0.035
395
c NMN013 Niemann-Pick Disease, Type a 57 0.035
396
c NMN016 Niemann-Pick Disease, Type B 45 0.035
397
P NRN021 Neuronal Ceroid Lipofuscinosis 58 0.035
398
P CCK001 Cockayne Syndrome 59 0.035
399
SLV003 Salivary Gland Disease 49 0.035
400
MYL020 Myelomeningocele 50 0.035
401
P DBT005 Diabetes Insipidus 53 0.034
402
c DYS169 Dystonia-12 51 0.034
403
LPM005 Lipomatosis 47 0.034
404
c CHR536 Charcot-Marie-Tooth Disease, Type 1a 56 0.034
405
c MLT093 Multiple Sclerosis 2 20 0.034
406
LPD008 Lipid Metabolism Disorder 58 0.034
407
RHM028 Rheumatic Heart Disease 51 0.034
408
LKM006 Leukomalacia 42 0.034
409
DRM006 Dermatitis 61 0.034
410
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 49 0.034
411
DBT088 Diabetes Insipidus, Nephrogenic 59 0.034
412
c PRK022 Parkinson Disease 12 24 0.034
413
TNG002 Tangier Disease 61 0.034
414
P SHR029 Short Syndrome 60 0.034
415
MCP027 Mucopolysaccharidisis Type Iiia 40 0.034
416
HMG005 Hemoglobinopathy 50 0.034
417
P CTR002 Cataract 57 0.034
418
EXF001 Exfoliation Syndrome 57 0.034
419
P PLN008 Peeling Skin Syndrome 47 0.034
420
CVT001 Cavitary Optic Disc Anomalies 32 0.034
421
P WLF004 Wolfram Syndrome 61 0.034
422
INT003 Intracranial Hypotension 39 0.034
423
P CHR342 Chiari Malformation 37 0.034
424
HYP080 Hypogonadism 54 0.033
425
CRD118 Cardiovascular Cancer 47 0.033
426
CNT025 Central Pontine Myelinolysis 42 0.033
427
PRV004 Periventricular Leukomalacia 48 0.033
428
TBR011 Tuberculous Meningitis 46 0.033
429
HYP056 Hypoglycemia 61 0.033
430
NRT004 Neuritis 52 0.033
431
HMR039 Hemorrhage, Intracerebral 53 0.033
432
P ATR011 Atrial Fibrillation 64 0.033
433
P ALT001 Alternating Hemiplegia of Childhood 52 0.033
434
SPC003 Specific Developmental Disorder 40 0.033
435
P ART023 Arthropathy 63 0.033
436
PTN001 Patent Foramen Ovale 54 0.033
437
HRT007 Heart Cancer 50 0.033
438
WTH001 Withdrawal Disorder 41 0.033
439
INT075 Intracranial Hypertension 53 0.033
440
CHR005 Chorioamnionitis 48 0.033
441
P CRB047 Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 41 0.033
442
LYM019 Lymphosarcoma 53 0.033
443
ATM059 Autoimmune Disease 6 26 0.033
444
SPT005 Spotted Fever 56 0.033
445
CHR001 Churg-Strauss Syndrome 49 0.033
446
P HRT017 Heart Tumor 35 0.033
447
P DBT085 Diabetes Mellitus, Insulin-Dependent 80 0.033
448
CHR066 Chronic Fatigue Syndrome 64 0.033
449
c EPL070 Epilepsy, Progressive Myoclonic 2b 53 0.033
450
AND005 Androgen Insensitivity Syndrome, Mild 16 0.032
451
SCR008 Scrub Typhus 54 0.032
452
GLL022 Guillain-Barre Syndrome 56 0.032
453
CRN030 Coronary Stenosis 50 0.032
454
P MDL005 Medulloblastoma 77 0.032
455
RHM001 Rheumatic Fever 50 0.032
456
CRN031 Cranial Nerve Disease 40 0.032
457
P INF032 Infertility 61 0.032
458
c EHL057 Ehlers-Danlos Syndrome, Type Iv 60 0.032
459
WRD025 Waardenburg Syndrome, Type 2e, with or Without Neurologic Involvement 41 0.032
460
CRB025 Carbohydrate Metabolic Disorder 47 0.032
461
P GLM045 Glioma 58 0.032
462
c PRK059 Parkinson Disease 8 52 0.032
463
HYP034 Hypertensive Encephalopathy 38 0.032
464
PLY023 Polycystic Liver Disease 57 0.032
465
CRT013 Carotid Stenosis 37 0.032
466
c LKD021 Leukodystrophy, Hypomyelinating, 11 19 0.032
467
c THR054 Thrombotic Thrombocytopenic Purpura, Familial 44 0.032
468
NSD001 Nose Disease 52 0.032
469
SPN027 Spinal Stenosis 56 0.032
470
CNG069 Congenital Cytomegalovirus 34 0.032
471
c ALZ032 Alzheimer Disease 18 26 0.032
472
MTB004 Metabolic Acidosis 48 0.032
473
P AXN001 Axonal Neuropathy 38 0.032
474
P FCS002 Fucosidosis 57 0.031
475
JNT002 Joint Disorders 56 0.031
476
CDQ001 Cauda Equina Syndrome 42 0.031
477
XNT003 Xanthomatosis 47 0.031
478
P NRB001 Neuroblastoma 69 0.031
479
DGN001 Degenerative Disc Disease 53 0.031
480
BNC003 Bone Cancer 45 0.031
481
P MYS005 Myositis 56 0.031
482
PMS001 Poems Syndrome 55 0.031
483
P DRM010 Dermatomyositis 58 0.031
484
ART005 Arteriovenous Malformation 65 0.031
485
WBR001 Weber Syndrome 37 0.031
486
DBT010 Diabetic Neuropathy 55 0.031
487
P HST010 Histiocytosis 55 0.031
488
CLN019 Colonic Disease 50 0.031
489
CYS010 Cystinosis 51 0.031
490
P TMP003 Temporal Arteritis 60 0.031
491
CPL007 Capillary Malformation-Arteriovenous Malformation 41 0.031
492
DWN001 Down Syndrome 65 0.031
493
OBS061 Obstructive Sleep Apnea 66 0.031
494
PRP030 Purpura 59 0.031
495
DBT087 Diabetes Insipidus, Neurohypophyseal 59 0.031
496
P CNJ013 Conjunctivitis 65 0.031
497
TCK001 Tick-Borne Encephalitis 49 0.031
498
P LYM033 Lymphoproliferative Syndrome 53 0.031
499
MSS002 Mass Syndrome 59 0.031
500
c MLT124 Multiple Sclerosis 5 25 0.031
501
P OST012 Osteoarthritis 82 0.031
502
c NRF018 Neurofibromatosis, Type 1 68 0.031
503
c SPN294 Spinocerebellar Ataxia 1 55 0.031
504
OCL011 Ocular Motility Disease 38 0.031
505
VSC047 Vascular Malformation 45 0.031
506
SRC014 Sarcoma 66 0.031
507
SPC005 Speech Disorder 43 0.031
508
DVL001 Developmental Coordination Disorder 37 0.031
509
c PRK051 Parkinson Disease 18 31 0.030
510
GLL008 Gilles De La Tourette Syndrome 62 0.030
511
P CMR001 Camurati-Engelmann Disease 59 0.030
512
HNS001 Hansen's Disease 29 0.030
513
P SJG001 Sjogren's Syndrome 53 0.030
514
MTR031 Motor Neuro-Ophthalmic Disorders 23 0.030
515
P MYL006 Myeloid Leukemia 67 0.030
516
ADP007 Adie Pupil 34 0.030
517
BHR001 Behr Syndrome 44 0.030
518
SPN051 Spondylitis 50 0.030
519
P SPN046 Spinal Muscular Atrophy 63 0.030
520
GTR002 Goiter 54 0.030
521
WST005 West Nile Virus 53 0.030
522
CRB150 Cerebral Creatine Deficiency Syndrome 2 48 0.030
523
c HPT003 Hepatitis a 59 0.030
524
c ACT210 Acute Respiratory Distress Syndrome 57 0.030
525
PRN032 Paraneoplastic Cerebellar Degeneration 29 0.030
526
RBR001 Roberts Syndrome 59 0.030
527
NRG002 Neurogenic Bladder 50 0.030
528
c ADL079 Adult Heart Tumor 19 0.030
529
c ACT075 Acute Myocardial Infarction 60 0.030
530
PRG009 Progressive Multifocal Leukoencephalopathy 50 0.030
531
c CRN177 Coronary Heart Disease 7 22 0.030
532
HPT019 Hepatic Encephalopathy 56 0.030
533
OPT009 Optic Neuritis 48 0.030
534
c CNG021 Congenital Toxoplasmosis 46 0.030
535
P HRP009 Herpes Simplex Encephalitis 46 0.030
536
ADT003 Auditory System Disease 51 0.030
537
CRD178 Cardiac Conduction Disease with or Without Dilated Cardiomyopathy 45 0.030
538
LMB062 Limb Ischemia 48 0.030
539
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 48 0.030
540
P ACT074 Acute Lymphocytic Leukemia 55 0.030
541
ART002 Arts Syndrome 53 0.030
542
EYD001 Eye Degenerative Disease 31 0.030
543
P EXN002 Exanthem 57 0.030
544
SPN050 Spinocerebellar Degeneration 37 0.030
545
CNS004 Constipation 57 0.030
546
DBT004 Diabetic Polyneuropathy 51 0.030
547
CHR056 Chronic Tic Disorder 49 0.030
548
SND002 Sneddon Syndrome 44 0.029
549
c CHR096 Chronic Pulmonary Heart Disease 40 0.029
550
LPD004 Lipoid Nephrosis 48 0.029
551
OBS015 Obesity, Hyperphagia, and Developmental Delay 46 0.029
552
ALL026 Allergic Hypersensitivity Disease 53 0.029
553
P EPN002 Ependymoma 53 0.029
554
AYM001 Ayme-Gripp Syndrome 45 0.029
555
P HMR012 Hemorrhagic Fever 55 0.029
556
SKN023 Skin Tag 46 0.029
557
P DMY001 Demyelinating Polyneuropathy 43 0.029
558
c EPL068 Epileptic Encephalopathy, Early Infantile, 7 29 0.029
559
c CNG027 Congenital Hemolytic Anemia 48 0.029
560
P RFS001 Refsum Disease 62 0.029
561
ADL002 Adult Syndrome 53 0.029
562
P THY023 Thymoma 53 0.029
563
P KRN004 Kernicterus 46 0.029
564
P HYP060 Hyperinsulinism 59 0.029
565
c HPT016 Hepatitis B 64 0.029
566
P RTN008 Retinitis Pigmentosa 79 0.029
567
ATM005 Autoimmune Disease of Musculoskeletal System 16 0.029
568
LPD009 Lipid Storage Disease 49 0.029
569
P RCK004 Rickets 59 0.029
570
TXC002 Toxic Encephalopathy 51 0.029
571
ATX003 Ataxia with Isolated Vitamin E Deficiency 44 0.029
572
P RTN016 Retinal Degeneration 54 0.029
573
NRR002 Norrie Disease 61 0.029
574
c MCP020 Mucopolysaccharidosis Type Iiic 31 0.029
575
c SPS147 Spastic Paraplegia 4, Autosomal Dominant 30 0.029
576
c ATM093 Autoimmune Disease of Peripheral Nervous System 35 0.029
577
NRF007 Neurofibroma 52 0.029
578
P KLP003 Klippel-Feil Syndrome 46 0.029
579
ARC002 Arachnoiditis 38 0.029
580
c MYC058 Myocardial Infarction 2 29 0.029
581
CYS005 Cysticercosis 52 0.029
582
LPP001 Lipoprotein Lipase Deficiency 65 0.029
583
P GLM007 Glomerulonephritis 56 0.029
584
PLM031 Poliomyelitis 59 0.029
585
MGR028 Migraine with or Without Aura 1 50 0.029
586
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.029
587
c OPT055 Optic Atrophy Plus Syndrome 54 0.029
588
P ADN016 Adenocarcinoma 69 0.029
589
P TYR004 Tyrosinemia 45 0.029
590
c HYP073 Hypersensitivity Reaction Type Iv Disease 45 0.029
591
c MNN025 Mannosidosis, Alpha-, Types I and Ii 54 0.029
592
c BRN108 Branchiootic Syndrome 1 36 0.029
593
CPR001 Coproporphyria 55 0.029
594
MYC002 Mycobacterium Avium Complex Disease 51 0.029
595
c EPL023 Epileptic Encephalopathy, Early Infantile, 11 23 0.029
596
P CNV004 Canavan Disease 55 0.028
597
P SPS012 Spastic Paraplegia 3a 30 0.028
598
c SPS125 Spastic Paraplegia 15, Autosomal Recessive 24 0.028
599
P IDP010 Idiopathic Generalized Epilepsy 61 0.028
600
BHC003 Behcet Syndrome 61 0.028
601
INT002 Intermittent Claudication 56 0.028
602
c SPS117 Spastic Paraplegia 10, Autosomal Dominant 21 0.028
603
c CHR090 Chronic Lymphocytic Leukemia 74 0.028
604
CST005 Castleman Disease 38 0.028
605
ALP008 Alopecia 55 0.028
606
MLT075 Multifocal Motor Neuropathy 41 0.028
607
c ALZ012 Alzheimer Disease 12 25 0.028
608
c MLG069 Malignant Hypertension 47 0.028
609
P HYP024 Hypoparathyroidism 52 0.028
610
ATR076 Atrophic Muscular Disease 18 0.028
611
BRN038 Bronchial Disease 54 0.028
612
c ACT078 Acute Porphyria 47 0.028
613
c CRN176 Coronary Heart Disease 9 20 0.028
614
LKC003 Leukocyte Disease 47 0.028
615
P SPR098 Supranuclear Palsy, Progressive 58 0.028
616
ART004 Aortic Atherosclerosis 46 0.028
617
IMM033 Immunodeficiency Due to Purine Nucleoside Phosphorylase Deficiency 42 0.028
618
P PLM036 Pulmonary Fibrosis 68 0.028
619
ACH005 Achalasia 54 0.028
620
P OST001 Osteopetrosis 62 0.028
621
SMT006 Somatoform Disorder 53 0.028
622
MSS001 Masa Syndrome 49 0.028
623
CHR321 Chorea and Dementia 19 0.028
624
c SVR003 Severe Congenital Neutropenia 56 0.028
625
ACH037 Achalasia-Addisonianism-Alacrimia Syndrome 45 0.028
626
NRL004 Neuroleptic Malignant Syndrome 45 0.028
627
CRB159 Cerebral Visual Impairment 40 0.028
628
ABL002 Ablepharon-Macrostomia Syndrome 57 0.028
629
P OST002 Osteoporosis 64 0.028
630
SCL025 Scleromyxedema 30 0.028
631
ATL010 Atlantoaxial Subluxation 19 0.028
632
HYP066 Hyperglycemia 60 0.028
633
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 59 0.028
634
KRT002 Keratomalacia 54 0.028
635
P THL005 Thalassemia 61 0.028
636
CRN024 Corneal Disease 44 0.028
637
c ATS308 Autosomal Dominant Cerebellar Ataxia 49 0.028
638
P HMP006 Hemiplegic Migraine 44 0.028
639
GLM011 Glomerulosclerosis 44 0.028
640
PRP021 Peripheral Nervous System Neoplasm 50 0.028
641
P CTR001 Citrullinemia 60 0.028
642
BNM001 Bone Marrow Cancer 52 0.028
643
DMN031 Dementia, Lewy Body 60 0.027
644
INT007 Intermediate Coronary Syndrome 52 0.027
645
MTR007 Motor Peripheral Neuropathy 43 0.027
646
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 29 0.027
647
P CRT033 Corticobasal Degeneration 46 0.027
648
P OST005 Osteogenesis Imperfecta 67 0.027
649
KYS001 Kyasanur Forest Disease 35 0.027
650
PRS064 Persistent Vegetative State 31 0.027
651
P EHL001 Ehlers-Danlos Syndrome 61 0.027
652
THR013 Thoracic Outlet Syndrome 49 0.027
653
WLL001 Williams-Beuren Syndrome 61 0.027
654
TYP007 Typhoid Fever 61 0.027
655
MLT135 Multiple Sulfatase Deficiency 53 0.027
656
OST016 Osteochondrosis 50 0.027
657
P THR005 Thrombotic Thrombocytopenic Purpura 55 0.027
658
SLP001 Sleeping Sickness 48 0.027
659
P PSD015 Pseudohypoparathyroidism 44 0.027
660
c SPS104 Spastic Paraplegia 53, Autosomal Recessive 22 0.027
661
P ESN007 Eosinophilia 61 0.027
662
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 44 0.027
663
PLS007 Plasmodium Falciparum Malaria 54 0.027
664
c DYS033 Dysautonomia Like Disorder 19 0.027
665
INC021 Incontinentia Pigmenti 60 0.027
666
ACT049 Acute Disseminated Encephalomyelitis 49 0.027
667
c SCH069 Schindler Disease, Type I 32 0.027
668
P DRM007 Dermatitis Herpetiformis 46 0.027
669
CRB086 Cerebral Aneurysms 39 0.027
670
P OVR042 Ovarian Cancer 75 0.027
671
c SPS151 Spastic Paraplegia 11, Autosomal Recessive 29 0.027
672
CRT009 Critical Illness Polyneuropathy 39 0.027
673
MNS002 Mini Stroke 19 0.027
674
P SML001 Small Cell Carcinoma 57 0.027
675
P RBL001 Rubella 56 0.027
676
CYT004 Cytomegalic Inclusion Disease 30 0.027
677
VST004 Vestibular Disease 47 0.027
678
P MCR129 Microvascular Complications of Diabetes 1 57 0.027
679
MSC077 Muscle Eye Brain Disease 56 0.027
680
CST001 Costello Syndrome 69 0.027
681
P HYP117 Hypertriglyceridemia 65 0.027
682
HYP269 Hypermethioninemia, Persistent, Autosomal Dominant, Due to Methionine Adenosyltransferase I/iii Deficiency 30 0.027
683
ALL001 Allan-Herndon-Dudley Syndrome 47 0.027
684
GLC012 Galactosialidosis 47 0.027
685
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 42 0.027
686
P HMF004 Hemifacial Spasm 39 0.027
687
DDN006 Duodenitis 44 0.026
688
LYM067 Lymphoid Leukemia 43 0.026
689
c ACT073 Acute Leukemia 62 0.026
690
P AGM005 Agammaglobulinemia, X-Linked 1 57 0.026
691
OST017 Osteomyelitis 59 0.026
692
NRC019 Neurocutaneous Melanosis, Somatic 39 0.026
693
c SPN259 Spinocerebellar Ataxia 32 16 0.026
694
TTN003 Tetanus 61 0.026
695
CNT046 Central Nervous System Vasculitis 47 0.026
696
NSY001 N Syndrome 39 0.026
697
P TCL004 T-Cell Leukemia 46 0.026
698
c HYP163 Hyperlipidemia Type 3 34 0.026
699
c HPT007 Hepatitis E 54 0.026
700
THR100 Thrombocytopenic Purpura, Autoimmune 53 0.026
701
EPS004 Episodic Ataxia/myokymia Syndrome 46 0.026
702
WST003 West Nile Fever 34 0.026
703
TST014 Testicular Cancer 52 0.026
704
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 39 0.026
705
LYM023 Lymphatic System Cancer 35 0.026
706
PLC008 Placenta Disease 36 0.026
707
P BLD051 Blood Coagulation Disease 45 0.026
708
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 33 0.026
709
WRN003 Wernicke Encephalopathy 44 0.026
710
P HYP069 Hyperparathyroidism 57 0.026
711
WST001 West Syndrome 61 0.026
712
AVN001 Avian Influenza 53 0.026
713
MLG141 Malignant Atrophic Papulosis 29 0.026
714
TXC005 Toxic Shock Syndrome 61 0.026
715
ACT017 Acute Chest Syndrome 48 0.026
716
c OPT053 Optic Atrophy 1 46 0.026
717
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 53 0.026
718
SPN020 Spondylosis 49 0.026
719
SYN036 Syncope 47 0.026
720
NRS003 Neurosyphilis 41 0.026
721
c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 39 0.026
722
CMM004 Common Variable Immunodeficiency 67 0.026
723
LPM004 Lipoma 58 0.026
724
HMC006 Homocystinuria Due to Mthfr Deficiency 33 0.026
725
PMP001 Pemphigus 49 0.026
726
DYS011 Dyskinesia of Esophagus 33 0.026
727
BNF002 Bone Fracture 47 0.026
728
NSH001 Nasu-Hakola Disease 45 0.026
729
GST053 Gastric Cancer 77 0.026
730
HYD057 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 44 0.026
731
HPT074 Hepatic Adenoma, Somatic 51 0.026
732
c SPS121 Spastic Paraplegia 3a, Autosomal Dominant 24 0.026
733
ACR006 Aceruloplasminemia 43 0.026
734
MND023 Mend Syndrome 24 0.026
735
VSC008 Vascular Hemostatic Disease 33 0.026
736
SPN040 Spinal Cancer 43 0.026
737
PPL023 Pupil Disease 23 0.026
738
NRL016 Neural Tube Defects 76 0.026
739
P ESS003 Essential Thrombocythemia 68 0.026
740
c VRL010 Viral Hepatitis 61 0.026
741
OPS006 Opsoclonus-Myoclonus Syndrome 46 0.026
742
c ADL001 Adult Lymphoma 41 0.026
743
CYS036 Cystinosis, Nephropathic 41 0.026
744
c PRK007 Parkinson Disease Type 3 22 0.026
745
STM006 Stomach Disease 50 0.026
746
c PRK037 Parkinson Disease 13 28 0.026
747
INT146 Intervertebral Disc Disease 62 0.025
748
ADR022 Adrenomyeloneuropathy 36 0.025
749
NRM002 Normal Pressure Hydrocephalus 50 0.025
750
TLN003 Telangiectasis 52 0.025
751
P ART061 Arthrogryposis, Distal, Type 2a 52 0.025
752
P MTH007 Methemoglobinemia 45 0.025
753
c MLT094 Multiple Sclerosis 3 26 0.025
754
c THR092 Thrombophilia Due to Thrombin Defect 56 0.025
755
PLT009 Pili Torti Developmental Delay Neurological Abnormalities 4 0.025
756
SVR004 Severe Combined Immunodeficiency 68 0.025
757
ELS001 Eales Disease 46 0.025
758
RMS001 Rem Sleep Behavior Disorder 40 0.025
759
P UTR038 Uterine Disease 40 0.025
760
TRC023 Trichinosis 43 0.025
761
c MLT095 Multiple Sclerosis 4 19 0.025
762
P PND002 Pendred Syndrome 56 0.025
763
CHL123 Chlamydia 59 0.025
764
CRY004 Cryoglobulinemia 47 0.025
765
ADN022 Adenylosuccinase Deficiency 35 0.025
766
DJR004 Dejerine-Sottas Disease 47 0.025
767
P XLN007 X-Linked Disease 34 0.025
768
SCH014 Schistosomiasis 58 0.025
769
CRV043 Cervical Dystonia 44 0.025
770
c PLN021 Peeling Skin Syndrome 3 31 0.025
771
P CRD013 Cardiofaciocutaneous Syndrome 63 0.025
772
P HMN010 Hemangioma 60 0.025
773
c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 47 0.025
774
OBS002 Obsessive-Compulsive Disorder 66 0.025
775
RDC002 Radiculopathy 53 0.025
776
IMP005 Impotence 50 0.025
777
TRN012 Transient Global Amnesia 39 0.025
778
INT221 Intravascular Large B-Cell Lymphoma 36 0.025
779
TCK002 Tick Paralysis 28 0.025
780
SPN187 Spinocerebellar Atrophy 22 0.025
781
P SPN301 Spinocerebellar Ataxia 2 63 0.025
782
c SPN105 Spinocerebellar Ataxia 4 32 0.025
783
P PLL002 Pellagra 45 0.025
784
GLT018 Glut1 Deficiency Syndrome 1 34 0.025
785
BSC002 Bscl2-Related Neurologic Disorders/seipinopathy 8 0.025
786
TST021 Testicular Germ Cell Tumor 70 0.025
787
P ABD003 Abdominal Aortic Aneurysm 43 0.025
788
ATP002 Atopy 63 0.025
789
KLN001 Klinefelter's Syndrome 55 0.025
790
P OST028 Osteochondroma 48 0.025
791
P PRN026 Porencephaly 47 0.025
792
TRC026 Tracheal Disease 35 0.025
793
ETN001 Eating Disorder 60 0.025
794
PHR003 Pharyngitis 58 0.025
795
LGN002 Legionellosis 59 0.025
796
NRN008 Neuronal Intranuclear Inclusion Disease 39 0.025
797
LVR012 Liver Cirrhosis 67 0.025
798
HRT012 Heart Valve Disease 41 0.025
799
SNS001 Sensorineural Hearing Loss 57 0.025
800
RCT017 Rectal Disease 39 0.025
801
ASP001 Asperger Syndrome 49 0.025
802
P NRF019 Neurofibromatosis, Type 2 73 0.025
803
RPR002 Reproductive System Disease 46 0.025
804
ABT001 Abetalipoproteinemia 60 0.025
805
HMT002 Hematologic Cancer 64 0.025
806
CHY002 Chylomicron Retention Disease 59 0.025
807
SKN027 Skin Conditions 45 0.025
808
c LCL006 Localized Scleroderma 59 0.025
809
PRT031 Parotid Disease 30 0.025
810
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 55 0.025
811
RYS001 Reye Syndrome 51 0.025
812
CRB040 Cerebrum Cancer 36 0.025
813
BRW009 Brown-Vialetto-Van Laere Syndrome 1 24 0.025
814
c GCH017 Gaucher Disease, Type Iii 45 0.025
815
P KDN017 Kidney Cancer 67 0.025
816
MLT113 Multicentric Castleman Disease 47 0.025
817
P ECL001 Eclampsia 54 0.025
818
c PRG106 Progressive Muscular Dystrophy 41 0.025
819
PLM033 Pulmonary Embolism 59 0.025
820
LPS008 Lupus - Neurological Sequelae 2 0.025
821
c ABD014 Abdominal Obesity-Metabolic Syndrome 1 56 0.025
822
HYP017 Hypophosphatemia 42 0.025
823
c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27 0.025
824
CRB070 Cerebral Folate Deficiency 38 0.025
825
BTR002 Beta-Ureidopropionase Deficiency 33 0.025
826
c MTH037 Methemoglobinemia, Type I 33 0.025
827
c SPS107 Spastic Paraplegia 18, Autosomal Recessive 23 0.025
828
AMN007 Aminoacylase 1 Deficiency 28 0.025
829
c GNR034 Generalized Epilepsy with Febrile Seizures Plus, Type 9 20 0.025
830
ECH003 Echinococcosis 53 0.024
831
VTM003 Vitamin Metabolic Disorder 33 0.024
832
c ATM006 Autoimmune Lymphoproliferative Syndrome 71 0.024
833
c SPS126 Spastic Paraplegia 49, Autosomal Recessive 25 0.024
834
HNM002 Hinman Syndrome 25 0.024
835
FCL014 Focal Epilepsy 56 0.024
836
SMT001 Somatization Disorder 46 0.024
837
MTC065 Mitochondrial Dna Depletion Syndrome 8a 27 0.024
838
DRG001 Drug Psychosis 40 0.024
839
ALX002 Alexithymia 37 0.024
840
CLC006 Calcinosis 49 0.024
841
INT253 Intestinal Benign Neoplasm 50 0.024
842
c SPS119 Spastic Paraplegia 55, Autosomal Recessive 24 0.024
843
c SPS156 Spastic Paraplegia 74, Autosomal Recessive 21 0.024
844
P CRN139 Cornelia De Lange Syndrome 1 60 0.024
845
c VRL007 Viral Encephalitis 54 0.024
846
ATR055 Atrial Septal Aneurysm 24 0.024
847
PSR001 Psoriatic Arthritis 64 0.024
848
c MNT163 Mental Retardation, Autosomal Recessive 30 12 0.024
849
HYP327 Hypertension, Early-Onset, Autosomal Dominant, with Exacerbation in Pregnancy 34 0.024
850
c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 20 0.024
851
P FML161 Familial Mediterranean Fever, Ar 63 0.024
852
KRN002 Kearns-Sayre Syndrome 59 0.024
853
LYM051 Lymphomatoid Granulomatosis 46 0.024
854
c CNT015 Central Sleep Apnea 44 0.024
855
P MST009 Mastocytosis 54 0.024
856
LWS003 Lowe Syndrome 61 0.024
857
MDD003 Middle Cerebral Artery Infarction 37 0.024
858
c PRX059 Peroxisome Biogenesis Disorder 1a 52 0.024
859
MLK003 Melkersson-Rosenthal Syndrome 50 0.024
860
c GCH016 Gaucher Disease, Type Ii 41 0.024
861
SMT008 Smith-Magenis Syndrome 51 0.024
862
P NNN008 Noonan Syndrome 1 67 0.024
863
NRP015 Neuropathy, Congenital Hypomyelinating 56 0.024
864
P GLY010 Glycine Encephalopathy 52 0.024
865
BSL009 Basal Ganglia Calcification 43 0.024
866
c BRD010 Bardet-Biedl Syndrome 1 54 0.024
867
c SPS149 Spastic Paraplegia 8, Autosomal Dominant 20 0.024
868
P AST007 Astrocytoma 65 0.024
869
MCR088 Microscopic Polyangiitis 48 0.024
870
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 46 0.024
871
DFN009 Deafness Hyperuricemia Neurologic Ataxia 3 0.024
872
c ACT071 Acute Kidney Failure 50 0.024
873
URC002 Urea Cycle Disorder 51 0.024
874
c XRD018 Xeroderma Pigmentosum, Group a 51 0.024
875
LCR004 La Crosse Encephalitis 42 0.024
876
P HYP263 Hypersomnia 40 0.024
877
c THM013 Thiamine Metabolism Dysfunction Syndrome 5 24 0.024
878
c PRR020 Perrault Syndrome 1 20 0.024
879
SGW003 Segawa Syndrome, Recessive 33 0.024
880
SML033 Small Cell Cancer of the Lung, Somatic 53 0.024
881
P LCT001 Lactic Acidosis 52 0.024
882
DRG011 Drug Addiction 51 0.024
883
MLR002 Miliary Tuberculosis 42 0.024
884
P HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 29 0.024
885
c ART117 Arthrogryposis, Distal, Type 2b 37 0.024
886
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 40 0.024
887
c PRK026 Parkinson Disease 11 30 0.024
888
VSC009 Vascular Skin Disease 22 0.024
889
P TMT001 Timothy Syndrome 56 0.024
890
ASB001 Asbestosis 42 0.024
891
LMR001 Lemierre's Syndrome 41 0.024
892
CHR322 Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress 41 0.024
893
ORB013 Orbital Disease 40 0.024
894
c SPS101 Spastic Paraplegia 56, Autosomal Recessive 24 0.024
895
INT042 Internuclear Ophthalmoplegia 36 0.023
896
KRT004 Keratitis 70 0.023
897
P MYT002 Myotonic Dystrophy 47 0.023
898
c PRK055 Parkinson Disease 19, Juvenile-Onset 25 0.023
899
c SPS159 Spastic Paraplegia 9b, Autosomal Recessive 23 0.023
900
PST045 Post-Streptococcal Neurologic Disorders 7 0.023
901
PTH002 Pathological Gambling 51 0.023
902
HYP068 Hyperostosis 40 0.023
903
c ACT159 Acute Transverse Myelitis 42 0.023
904
TCD001 Tic Disorder 49 0.023
905
BND015 Band-Like Calcification with Simplified Gyration and Polymicrogyria 46 0.023
906
WSM002 Waisman Syndrome 33 0.023
907
SPR038 Supranuclear Ocular Palsy 20 0.023
908
c SPS158 Spastic Paraplegia 9a, Autosomal Dominant 26 0.023
909
P PLY017 Polyarteritis Nodosa 55 0.023
910
P HMP007 Hemophilia 56 0.023
911
P MMP001 Mumps 56 0.023
912
URB001 Urbach-Wiethe Disease 48 0.023
913
c PLN018 Peeling Skin Syndrome 2 35 0.023
914
c ACR084 Aicardi-Goutieres Syndrome 7 21 0.023
915
P GT001 Gout 58 0.023
916
c SPS106 Spastic Paraplegia 54, Autosomal Recessive 25 0.023
917
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 21 0.023
918
DYS003 Dysgraphia 38 0.023
919
CPG001 Capgras Syndrome 22 0.023
920
ATM013 Autoimmune Disease of Cardiovascular System 15 0.023
921
P HRD018 Hair Disease 50 0.023
922
AMN002 Amino Acid Metabolic Disorder 48 0.023
923
PYM001 Pyomyositis 39 0.023
924
c SPN290 Spinocerebellar Ataxia 15 42 0.023
925
CHK001 Chikungunya 50 0.023
926
P PRS038 Personality Disorder 61 0.023
927
ICH054 Ichthyosis, X-Linked 48 0.023
928
SWN001 Swine Influenza 37 0.023
929
P BRD002 Bardet-Biedl Syndrome 62 0.023
930
INS024 Insulin-Like Growth Factor I 74 0.023
931
c LKM062 Leukemia, Acute Lymphoblastic 64 0.023
932
c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 27 0.023
933
c SPS137 Spastic Paraplegia 57, Autosomal Recessive 23 0.023
934
P SNS014 Sinusitis 60 0.023
935
ATT013 Attention Deficit-Hyperactivity Disorder 68 0.023
936
TXC011 Toxocariasis 37 0.023
937
SHG001 Shigellosis 53 0.023
938
c PLN017 Peeling Skin Syndrome 1 33 0.023
939
P SPN052 Spondyloarthropathy 60 0.023
940
c CRB103 Cerebral Cavernous Malformations-1 49 0.023
941
LRY029 Laryngomalacia 39 0.023
942
NCL006 Nicolaides-Baraitser Syndrome 39 0.023
943
PLM034 Pulmonary Emphysema 54 0.023
944
P PLY041 Polymyositis 51 0.023
945
CRN017 Coronary Thrombosis 48 0.023
946
c CRG004 Crigler-Najjar Syndrome, Type Ii 48 0.023
947
CRY008 Cryopyrin-Associated Periodic Syndrome 34 0.023
948
PLS011 Plasmacytoma 56 0.023
949
PTT006 Pituitary Adenoma 55 0.023
950
MCR004 Macroglobulinemia 50 0.023
951
RTN020 Retinal Vascular Disease 50 0.023
952
ULN001 Ulnar Neuropathy 36 0.023
953
BRR013 Barrett Esophagus/esophageal Adenocarcinoma 55 0.023
954
c SZR007 Seizures, Benign Familial Infantile, 3 42 0.023
955
c XRD014 Xeroderma Pigmentosum, Group G 39 0.023
956
CPT003 Cpt Deficiency, Hepatic, Type Ia 39 0.023
957
EWN003 Ewing Sarcoma 64 0.023
958
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 32 0.023
959
c EPL097 Epileptic Encephalopathy, Early Infantile, 14 21 0.023
960
MTH047 Methanol Poisoning 30 0.023
961
PNN005 Panencephalitis, Subacute Sclerosing 35 0.023
962
FLT009 Folate Malabsorption, Hereditary 29 0.023
963
MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 22 0.023
964
SHP002 Shprintzen-Goldberg Syndrome 54 0.023
965
HST011 Histoplasmosis 54 0.023
966
BLR027 Blue Rubber Bleb Nevus 33 0.023
967
P DMN033 Dementia, Frontotemporal 63 0.023
968
ARG007 Argininemia 51 0.022
969
c HYP248 Hyperprolinemia, Type I 23 0.022
970
LSH001 Leishmaniasis 62 0.022
971
BWN006 Bowen's Disease 31 0.022
972
YLL002 Yellow Fever 57 0.022
973
c TYR012 Tyrosinemia, Type I 55 0.022
974
MYX004 Myxedema 38 0.022
975
c MNT109 Mental Retardation, X-Linked, Syndromic 15 31 0.022
976
SMT004 Smith-Lemli-Opitz Syndrome 67 0.022
977
HMN009 Hemangioblastoma 45 0.022
978
c MCP036 Mucopolysaccharidosis Ih/s 35 0.022
979
TKY002 Takayasu Arteritis 60 0.022
980
c SML023 Small Cell Lung Cancer, Adult 17 0.022
981
P LKN019 Leukoencephalopathy, Diffuse Hereditary, with Spheroids 48 0.022
982
c PNT018 Pontocerebellar Hypoplasia, Type 1b 27 0.022
983
c DYS186 Dystonia 2 22 0.022
984
SKL014 Skeletal Dysplasia 46 0.022
985
P PRR025 Perrault Syndrome 41 0.022
986
ANR002 Aniridia 60 0.022
987
c BSL007 Basal Cell Carcinoma 64 0.022
988
c SYS004 Systemic Mastocytosis 59 0.022
989
P THR003 Thoracic Aortic Aneurysm 57 0.022
990
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 53 0.022
991
P PRM108 Primary Progressive Multiple Sclerosis 47 0.022
992
SKL017 Skeletal Dysplasias 45 0.022
993
P MRC003 Mercury Poisoning 38 0.022
994
P ENC021 Encephalopathy, Neonatal Severe 30 0.022
995
LYM040 Lymphoblastic Lymphoma 54 0.022
996
c TRC078 Trichohepatoenteric Syndrome 2 31 0.022
997
c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27 0.022
998
c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 24 0.022
999
P PFF001 Pfeiffer Syndrome 73 0.022
1000
ASP002 Aspartylglucosaminuria 59 0.022
1001
PLM010 Pulmonary Edema 56 0.022
1002
RLP003 Relapsing Fever 46 0.022
1003
BRB001 Beriberi 40 0.022
1004
P PRM016 Primary Optic Atrophy 32 0.022
1005
PRX028 Peroxisomal Acyl-Coa Oxidase Deficiency 45 0.022
1006
SMN007 Seminoma 42 0.022
1007
HYP550 Hypomagnesemia 1, Intestinal 28 0.022
1008
P CRN037 Craniosynostosis 65 0.022
1009
RBS001 Rabies 56 0.022
1010
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 32 0.022
1011
c MNT248 Mental Retardation, X-Linked 102 22 0.022
1012
GYR003 Gyrate Atrophy of Choroid and Retina with or Without Ornithinemia 42 0.022
1013
MLT002 Multiple Symmetrical Lipomatosis 36 0.022
1014
IMM077 Immunodeficiency 20 29 0.022
1015
ENC023 Encephalopahty, Lethal, Due to Defective Mitochondrial Peroxisomal Fission 24 0.022
1016
NRM003 Norum Disease 52 0.022
1017
MCL014 Mcleod Neuroacanthocytosis Syndrome 18 0.022
1018
KSK002 Kosaki Overgrowth Syndrome 16 0.022
1019
WRN001 Werner Syndrome 67 0.022
1020
NRN005 Neuronal Ceroid-Lipofuscinoses 52 0.022
1021
MNN009 Meningoencephalitis 45 0.022
1022
TCL003 T Cell Deficiency 45 0.022
1023
LKN003 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation 30 0.022
1024
P NPH005 Nephronophthisis 55 0.022
1025
CNT099 Contractural Arachnodactyly, Congenital 41 0.022
1026
c GM1004 Gm1-Gangliosidosis, Type I 40 0.022
1027
DSS009 Disseminated Intravascular Coagulation 51 0.022
1028
CRY005 Cryptococcosis 50 0.022
1029
P MYC008 Myocarditis 54 0.022
1030
c ADL052 Adult Acute Lymphocytic Leukemia 42 0.022
1031
NRM006 Neuromuscular Junction Disease 38 0.022
1032
c ATM075 Autoimmune Encephalitis 36 0.022
1033
c RTN162 Retinitis Pigmentosa 2 51 0.022