Search results for Creatine

798 hits were found for Creatine

# Family MCID Name MIFTS Score
1
CRB151 Cerebral Creatine Deficiency Syndrome 1 46 10.224
2
CRB150 Cerebral Creatine Deficiency Syndrome 2 41 5.257
3
CRB148 Cerebral Creatine Deficiency Syndrome 3 37 5.252
4
CRT055 Creatine Deficiency Syndromes 24 4.476
5
CRT045 Creatine Phosphokinase, Elevated Serum 36 4.251
6
CRB137 Cerebral Creatine Deficiency Syndrome 24 3.775
7
SLC018 Slc6a8-Related Creatine Transporter Deficiency 12 3.701
8
P ISL077 Isolated Hyperckemia 19 3.011
9
LRG010 L-Arginine:glycine Amidinotransferase Deficiency 12 2.173
10
ISL053 Isolated Asymptomatic Elevation of Creatine Phosphokinase 4 2.137
11
P MYC007 Myocardial Infarction 77 0.254
12
c ACT075 Acute Myocardial Infarction 59 0.213
13
P MYP004 Myopathy 68 0.153
14
CRB009 Cerebritis 39 0.147
15
P MSC005 Muscular Dystrophy 65 0.142
16
MNT002 Mental Depression 52 0.142
17
MSC004 Muscle Tissue Disease 37 0.135
18
P MSC033 Muscle Disorders 52 0.126
19
NRM005 Neuromuscular Disease 55 0.121
20
MDD011 Mood Disorder 59 0.118
21
MVM001 Movement Disease 52 0.115
22
NRN002 Neuronitis 39 0.115
23
P LTR001 Lateral Sclerosis 53 0.112
24
c CNT035 Central Nervous System Disease 60 0.107
25
BSL008 Basal Ganglia Disease 44 0.107
26
DRG001 Drug Psychosis 41 0.107
27
P HNT016 Huntington Disease 76 0.097
28
BCK001 Becker Muscular Dystrophy 71 0.097
29
PSY004 Psychotic Disorder 67 0.097
30
MTR014 Motor Neuron Disease 56 0.097
31
DMN002 Dementia 52 0.094
32
DCH001 Duchenne Muscular Dystrophy 79 0.091
33
ISC004 Ischemia 59 0.091
34
ECT026 Ectopic Pregnancy 48 0.091
35
SPN041 Spinal Cord Disease 46 0.091
36
P PLY041 Polymyositis 52 0.087
37
c MTR002 Mitral Valve Insufficiency 45 0.087
38
CHR321 Chorea and Dementia 18 0.083
39
P NRV007 Nervous System Disease 70 0.080
40
MTH009 Mouth Disease 62 0.080
41
P INT063 Intellectual Disability 58 0.080
42
P MSC003 Muscular Atrophy 49 0.080
43
c PRG106 Progressive Muscular Dystrophy 40 0.080
44
c MJR006 Major Affective Disorder 5 18 0.080
45
P HRT032 Heart Disease 75 0.075
46
HYP266 Hypoxia 55 0.075
47
c MJR008 Major Affective Disorder 2 20 0.075
48
P DRM010 Dermatomyositis 59 0.071
49
P BRS047 Breast Cancer 100 0.067
50
c AMY091 Amyotrophic Lateral Sclerosis 1 78 0.067
51
P SCH015 Schizophrenia 71 0.067
52
P CRD011 Cardiomyopathy 67 0.067
53
MLG056 Malignant Hyperthermia 57 0.067
54
RHM027 Rheumatic Disease 57 0.067
55
CND002 Conduct Disorder 53 0.067
56
DRG003 Drug Dependence 48 0.067
57
P MYT002 Myotonic Dystrophy 48 0.067
58
BRT030 Birth Defects 44 0.067
59
NRL004 Neuroleptic Malignant Syndrome 40 0.067
60
c MSC135 Muscular Dystrophy, Limb-Girdle, Type 2y 36 0.067
61
c MJR004 Major Affective Disorder 4 26 0.067
62
P ART022 Arthritis 72 0.062
63
ANX002 Anxiety Disorder 66 0.062
64
P EPL164 Epilepsy 65 0.062
65
P BPL003 Bipolar Disorder 60 0.062
66
CHL071 Child Syndrome 59 0.062
67
KDS001 Kid Syndrome 57 0.062
68
P MYS005 Myositis 56 0.062
69
P MTC069 Mitochondrial Disorders 55 0.062
70
DSS008 Disease of Mental Health 53 0.062
71
FCS012 Facioscapulohumeral Muscular Dystrophy 1 50 0.062
72
HYP037 Hyperhomocysteinemia 49 0.062
73
ATN002 Autonomic Nervous System Disease 48 0.062
74
ANX004 Anoxia 44 0.062
75
CRB090 Cerebral Hypoxia 44 0.062
76
CHL028 Childhood Type Dermatomyositis 43 0.062
77
PHS001 Phosphorus Metabolism Disease 40 0.062
78
MSC012 Muscular Dystrophy, Duchenne and Becker Type 25 0.062
79
ATR076 Atrophic Muscular Disease 18 0.062
80
MYP104 Myopathy, Vacuolar, with Casq1 Aggregates 17 0.062
81
c SYS001 Systemic Lupus Erythematosus 86 0.056
82
P RTT002 Rett Syndrome 82 0.056
83
PCK002 Pick Disease 68 0.056
84
P LPS004 Lupus Erythematosus 63 0.056
85
P HYP086 Hypothyroidism 60 0.056
86
ADL002 Adult Syndrome 57 0.056
87
ART111 Artery Disease 55 0.056
88
MCR264 Mcardle Disease 55 0.056
89
P TRM003 Tremor 53 0.056
90
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 53 0.056
91
P ATX004 Ataxia 52 0.056
92
P CLL015 Collagen Disease 50 0.056
93
SYN036 Syncope 44 0.056
94
BNS002 Bone Structure Disease 36 0.056
95
c CRD187 Cardiomyopathy, Dilated, 3b 35 0.056
96
MYT015 Myotonia Congenita, Atypical, Acetazolamide-Responsive 33 0.056
97
DMT001 Dimethylglycine Dehydrogenase Deficiency 26 0.056
98
P LNG032 Lung Cancer 94 0.050
99
P OST012 Osteoarthritis 79 0.050
100
P CRN211 Coronary Artery Disease 73 0.050
101
ULC004 Ulcerative Colitis 72 0.050
102
CNG034 Congestive Heart Failure 70 0.050
103
VSC007 Vascular Disease 65 0.050
104
P KDN018 Kidney Disease 65 0.050
105
INC002 Inclusion Body Myositis 63 0.050
106
P OST002 Osteoporosis 63 0.050
107
P ANG001 Angelman Syndrome 62 0.050
108
SPN186 Spinal Cord Injury 62 0.050
109
P ART023 Arthropathy 62 0.050
110
c GLY008 Glycogen Storage Disease Ii 61 0.050
111
CNN005 Connective Tissue Disease 61 0.050
112
CRD119 Cardiac Arrest 59 0.050
113
CLT003 Colitis 58 0.050
114
EXF001 Exfoliation Syndrome 57 0.050
115
P INF032 Infertility 57 0.050
116
ART021 Arteriosclerosis 57 0.050
117
JNT002 Joint Disorders 55 0.050
118
GST050 Gastrointestinal System Disease 53 0.050
119
PRP019 Peripheral Nervous System Disease 53 0.050
120
P ENC018 Encephalopathy 52 0.050
121
c PRK031 Parkinson Disease 1 51 0.050
122
URN009 Urinary System Disease 49 0.050
123
P PLN008 Peeling Skin Syndrome 49 0.050
124
AMN002 Amino Acid Metabolic Disorder 48 0.050
125
CHR105 Choreoacanthocytosis 46 0.050
126
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46 0.050
127
GDS001 Good Syndrome 46 0.050
128
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 46 0.050
129
EPS004 Episodic Ataxia/myokymia Syndrome 45 0.050
130
MSC039 Muscular Dystrophy, Congenital Merosin-Deficient 45 0.050
131
GLC008 Glucose Metabolism Disease 44 0.050
132
17L004 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 44 0.050
133
P MLG086 Malignant Hyperthermia Susceptibility 44 0.050
134
CHR008 Choroiditis 43 0.050
135
PHY002 Physical Disorder 43 0.050
136
c PRK059 Parkinson Disease 8 42 0.050
137
SPC005 Speech Disorder 41 0.050
138
c PRK030 Parkinson Disease 4 41 0.050
139
ADJ001 Adjustment Disorder 38 0.050
140
MTC005 Mitochondrial Metabolism Disease 38 0.050
141
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 38 0.050
142
c PRK045 Parkinson Disease 5 37 0.050
143
c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 37 0.050
144
c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 37 0.050
145
IMP003 Impaired Renal Function Disease 36 0.050
146
c AMY088 Amyotrophic Lateral Sclerosis 3 36 0.050
147
c SCH051 Schizophrenia 4 36 0.050
148
NNK001 Nonaka Myopathy 35 0.050
149
P XLN007 X-Linked Disease 34 0.050
150
c LPD035 Lipodystrophy, Congenital Generalized, Type 4 34 0.050
151
c NML015 Nemaline Myopathy 3, Autosomal Dominant or Recessive 33 0.050
152
c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 33 0.050
153
c PLN021 Peeling Skin Syndrome 3 32 0.050
154
c MSC136 Muscular Dystrophy, Limb-Girdle, Type 2w 30 0.050
155
c MSC138 Muscular Dystrophy, Limb-Girdle, Type 1g 30 0.050
156
MTC059 Mitochondrial Dna Depletion Syndrome 5 30 0.050
157
MCL055 Mcleod Syndrome with or Without Chronic Granulomatous Disease 28 0.050
158
CPT006 Cpt Ii Deficiency, Myopathic, Stress-Induced 27 0.050
159
NLL002 Null Syndrome 26 0.050
160
EYC003 Eye Accommodation Disease 25 0.050
161
P GNR027 Generalized Peeling Skin Syndrome 22 0.050
162
c CRN174 Coronary Heart Disease 2 21 0.050
163
c CRN172 Coronary Heart Disease 3 20 0.050
164
MTC024 Mitochondrial Genetic Disorders 14 0.050
165
RTN072 Retinohepatoendocrinologic Syndrome 14 0.050
166
P RHM011 Rheumatoid Arthritis 87 0.044
167
P AST005 Asthma 81 0.044
168
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 0.044
169
P NRB001 Neuroblastoma 71 0.044
170
P HPT021 Hepatitis 68 0.044
171
P CHR071 Charcot-Marie-Tooth Disease 67 0.044
172
P GLB002 Glioblastoma 66 0.044
173
P MNN013 Meningitis 65 0.044
174
P OST001 Osteopetrosis 63 0.044
175
ATS001 Autistic Disorder 63 0.044
176
P INF037 Inflammatory Bowel Disease 62 0.044
177
P PNC044 Pancreatitis 60 0.044
178
P INT068 Intestinal Disease 59 0.044
179
RHB003 Rhabdomyosarcoma 58 0.044
180
P MCR010 Microcephaly 58 0.044
181
WLL006 Wells Syndrome 58 0.044
182
GST045 Gastroenteritis 57 0.044
183
c MYT020 Myotonic Dystrophy 2 57 0.044
184
P SZR006 Seizure Disorder 54 0.044
185
MCS002 Mucositis 54 0.044
186
ISC006 Ischemic Heart Disease 53 0.044
187
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 53 0.044
188
SBS003 Substance Abuse 52 0.044
189
c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51 0.044
190
DRG011 Drug Addiction 51 0.044
191
BNF002 Bone Fracture 51 0.044
192
CLN019 Colonic Disease 51 0.044
193
OCL008 Oculopharyngeal Muscular Dystrophy 50 0.044
194
BRN071 Brain Injury 50 0.044
195
c GLY019 Glycogen Storage Disease Iiia 50 0.044
196
ANG054 Angina Pectoris 49 0.044
197
MSS002 Mass Syndrome 49 0.044
198
SBS004 Substance Dependence 49 0.044
199
CRB025 Carbohydrate Metabolic Disorder 47 0.044
200
IDP024 Idiopathic Inflammatory Myopathy 45 0.044
201
c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 44 0.044
202
P CMP008 Compartment Syndrome 44 0.044
203
c CHR095 Chronic Progressive External Ophthalmoplegia 43 0.044
204
FCL041 Focal Myositis 43 0.044
205
P MYS033 Miyoshi Muscular Dystrophy 1 42 0.044
206
SPC010 Speech and Communication Disorders 42 0.044
207
P RPP002 Rippling Muscle Disease 42 0.044
208
c AMY085 Amyotrophic Lateral Sclerosis 9 42 0.044
209
c AMY069 Amyotrophic Lateral Sclerosis 21 41 0.044
210
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 41 0.044
211
c CNG206 Congenital Disorder of Glycosylation, Type Ie 40 0.044
212
MDY003 Mody, Type Ii 40 0.044
213
HRT012 Heart Valve Disease 40 0.044
214
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 40 0.044
215
WTH001 Withdrawal Disorder 40 0.044
216
c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 39 0.044
217
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 39 0.044
218
c CNG031 Congenital Nervous System Abnormality 39 0.044
219
MYP100 Myopathy, X-Linked, with Excessive Autophagy 39 0.044
220
c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39 0.044
221
c PRM212 Primary Microcephaly 39 0.044
222
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 38 0.044
223
SPC003 Specific Developmental Disorder 38 0.044
224
c MSC049 Muscular Dystrophy, Limb-Girdle, Type Ic 37 0.044
225
c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 37 0.044
226
c ADL027 Adult Dermatomyositis 37 0.044
227
P CHR084 Chromosomal Disease 37 0.044
228
NTR007 Neutral Lipid Storage Disease with Myopathy 37 0.044
229
P MRN003 Marinesco-Sjogren Syndrome 37 0.044
230
c PRG104 Progressive External Ophthalmoplegia, Autosomal Recessive 1 36 0.044
231
c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 36 0.044
232
c OST147 Osteoarthritis 1 35 0.044
233
c INF089 Inflammatory Bowel Disease 6 35 0.044
234
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 35 0.044
235
LNG041 Laing Distal Myopathy 34 0.044
236
c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 33 0.044
237
FNT004 Fainting 33 0.044
238
c GLY057 Glycogen Storage Disease X 33 0.044
239
c MSC062 Muscular Dystrophy, Limb-Girdle, Type 2q 32 0.044
240
c PLN024 Peeling Skin Syndrome 4 32 0.044
241
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 32 0.044
242
c INF078 Inflammatory Bowel Disease 2 32 0.044
243
c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 32 0.044
244
c CNG379 Congenital Disorder of Glycosylation, Type It 31 0.044
245
MCR064 Microcephaly, Seizures, and Developmental Delay 30 0.044
246
c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 30 0.044
247
c MSC058 Muscular Dystrophy, Limb-Girdle, Type 1h 29 0.044
248
MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 28 0.044
249
CPT007 Cpt Ii Deficiency, Infantile 28 0.044
250
c MYP080 Myopathy, Myofibrillar, 4 27 0.044
251
c MSC046 Muscular Dystrophy-Dystroglycanopathy , Type B, 3 26 0.044
252
c MYS014 Miyoshi Muscular Dystrophy 3 25 0.044
253
c DBT086 Diabetes Mellitus, Noninsulin-Dependent, 5 25 0.044
254
c LPD036 Lipodystrophy, Familial Partial, Type 6 25 0.044
255
c INF068 Inflammatory Bowel Disease 13 24 0.044
256
c GLY059 Glycogen Storage Disease Xiii 24 0.044
257
c MSC038 Muscular Dystrophy-Dystroglycanopathy , Type B, 4 24 0.044
258
c MJR007 Major Affective Disorder 1 23 0.044
259
c DBT033 Diabetes Mellitus, Noninsulin-Dependent, 2 23 0.044
260
c INF091 Inflammatory Bowel Disease 8 23 0.044
261
P CRN178 Coronary Heart Disease 6 22 0.044
262
c CRN214 Coronary Heart Disease 5 22 0.044
263
HYP624 Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase 22 0.044
264
c MSC140 Muscular Dystrophy, Limb-Girdle, Type 2x 21 0.044
265
c JVN046 Juvenile Polymyositis 20 0.044
266
c CRN175 Coronary Heart Disease 4 20 0.044
267
ERY030 Erythrocyte Lactate Transporter Defect 18 0.044
268
c INF080 Inflammatory Bowel Disease 21 18 0.044
269
AND005 Androgen Insensitivity Syndrome, Mild 16 0.044
270
PRS059 Prostaglandin-Endoperoxide Synthase Deficiency 12 0.044
271
P HPT023 Hepatocellular Carcinoma 89 0.036
272
MLR004 Malaria 82 0.036
273
HV1006 Hiv-1 80 0.036
274
P INF038 Influenza 71 0.036
275
CRZ001 Crouzon Syndrome 70 0.036
276
P CRB042 Cerebellar Ataxia 69 0.036
277
P OST005 Osteogenesis Imperfecta 68 0.036
278
P PNM007 Pneumonia 66 0.036
279
ATT013 Attention Deficit-Hyperactivity Disorder 66 0.036
280
SRC014 Sarcoma 66 0.036
281
c CHR089 Chronic Kidney Failure 65 0.036
282
c HPT001 Hepatitis C 62 0.036
283
HMT002 Hematologic Cancer 62 0.036
284
WLL001 Williams-Beuren Syndrome 62 0.036
285
P THL005 Thalassemia 61 0.036
286
CHR066 Chronic Fatigue Syndrome 61 0.036
287
P DNT015 Dent Disease 61 0.036
288
GNG013 Gingivitis 61 0.036
289
P CRB171 Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy 1 61 0.036
290
ACQ007 Acquired Immunodeficiency Syndrome 60 0.036
291
ACN011 Acne 59 0.036
292
P GLM045 Glioma 59 0.036
293
P SPR098 Supranuclear Palsy, Progressive 59 0.036
294
VLC002 Vlcad Deficiency 59 0.036
295
VRL011 Viral Infectious Disease 59 0.036
296
MSC077 Muscle Eye Brain Disease 58 0.036
297
P ORL007 Oral Cavity Cancer 57 0.036
298
P NRP001 Neuropathy 57 0.036
299
EYD002 Eye Disease 57 0.036
300
P EXN002 Exanthem 57 0.036
301
LPD008 Lipid Metabolism Disorder 57 0.036
302
LKN001 Leukoencephalopathy with Vanishing White Matter 57 0.036
303
MVL001 Mevalonic Aciduria 56 0.036
304
ORL011 Oral Cancer 56 0.036
305
P MSC007 Muscle Hypertrophy 56 0.036
306
c ACT027 Acute Pancreatitis 56 0.036
307
P EMR001 Emery-Dreifuss Muscular Dystrophy 55 0.036
308
INT002 Intermittent Claudication 55 0.036
309
PLM031 Poliomyelitis 55 0.036
310
c PND001 Pain Disorder 55 0.036
311
P PLY019 Polyneuropathy 54 0.036
312
c MSC124 Muscular Dystrophy, Congenital 54 0.036
313
MLN007 Male Infertility 54 0.036
314
THR100 Thrombocytopenic Purpura, Autoimmune 54 0.036
315
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53 0.036
316
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 53 0.036
317
P MYC008 Myocarditis 53 0.036
318
SPN053 Spinal and Bulbar Muscular Atrophy of Kennedy 53 0.036
319
IMM136 Immune System Disease 53 0.036
320
P LRY019 Laryngitis 53 0.036
321
CSY001 C Syndrome 53 0.036
322
BRN106 Burns 52 0.036
323
TRM010 Traumatic Brain Injury 51 0.036
324
END030 End Stage Renal Failure 51 0.036
325
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 51 0.036
326
P THY054 Thyrotoxic Periodic Paralysis 51 0.036
327
TTH006 Tooth Disease 51 0.036
328
P HYP370 Hypokalemic Periodic Paralysis, Type 1 51 0.036
329
P LMB006 Limb-Girdle Muscular Dystrophy 50 0.036
330
MTC057 Mitochondrial Recessive Ataxia Syndrome 50 0.036
331
MSC006 Muscle Glycogenosis 50 0.036
332
c MSC120 Muscular Dystrophy, Limb-Girdle, Type 2c 49 0.036
333
P HMC002 Homocystinuria 49 0.036
334
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49 0.036
335
RTN023 Retinitis 49 0.036
336
DNN001 Danon Disease 48 0.036
337
c ACT071 Acute Kidney Failure 48 0.036
338
VRC001 Varicocele 48 0.036
339
URM002 Uremia 48 0.036
340
GLY014 Glycerol Kinase Deficiency 47 0.036
341
SCH068 Schwartz-Jampel Syndrome, Type 1 47 0.036
342
NTR005 Nutritional Deficiency Disease 47 0.036
343
STR081 Stormorken Syndrome 47 0.036
344
P BTH005 Bethlem Myopathy 1 46 0.036
345
LRN003 Learning Disability 46 0.036
346
LKC003 Leukocyte Disease 46 0.036
347
P ULL002 Ullrich Congenital Muscular Dystrophy 1 46 0.036
348
c BPL002 Bipolar I Disorder 46 0.036
349
HMN014 Human Immunodeficiency Virus Infectious Disease 45 0.036
350
c NRD014 Neurodegeneration with Brain Iron Accumulation 4 44 0.036
351
HDN002 Head Injury 44 0.036
352
HPT074 Hepatic Adenoma, Somatic 44 0.036
353
NSY001 N Syndrome 44 0.036
354
P MYP087 Myopathy, Tubular Aggregate, 1 43 0.036
355
P CRN035 Cranial Nerve Palsy 43 0.036
356
P HYP729 Hypersensitivity Reaction Disease 43 0.036
357
c AMY090 Amyotrophic Lateral Sclerosis 8 42 0.036
358
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 42 0.036
359
c MYS052 Myasthenic Syndrome, Congenital, 10 42 0.036
360
CPT003 Cpt Deficiency, Hepatic, Type Ia 42 0.036
361
PLC001 Placenta Accreta 42 0.036
362
ANT039 Antisynthetase Syndrome 42 0.036
363
FML036 Familial Periodic Paralysis 41 0.036
364
TRC023 Trichinosis 41 0.036
365
CHR413 Chronic Myocardial Ischemia 41 0.036
366
c ATM022 Autoimmune Myocarditis 41 0.036
367
CRN031 Cranial Nerve Disease 41 0.036
368
c MYP082 Myopathy, Myofibrillar, 2 40 0.036
369
P HVY001 Heavy Chain Disease 40 0.036
370
MYP094 Myopathy, Spheroid Body 39 0.036
371
PDT035 Pediatric Systemic Lupus Erythematosus 39 0.036
372
MSC028 Muscular Dystrophy, Congenital, Megaconial Type 39 0.036
373
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 38 0.036
374
MYF002 Myofascial Pain Syndrome 38 0.036
375
OCL011 Ocular Motility Disease 38 0.036
376
CWC001 Cowchock Syndrome 37 0.036
377
P MYS053 Myasthenic Syndrome, Congenital, 14, with Tubular Aggregates 37 0.036
378
ATM012 Autoimmune Disease of Blood 37 0.036
379
STR015 Stereotypic Movement Disorder 36 0.036
380
c MSC050 Muscular Dystrophy, Congenital, 1b 36 0.036
381
PRP080 Peripheral Artery Disease 36 0.036
382
c MYP078 Myopathy, Myofibrillar, 3 35 0.036
383
c DNT021 Dent Disease 2 35 0.036
384
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 34 0.036
385
MYX004 Myxedema 34 0.036
386
c MYP079 Myopathy, Myofibrillar, 5 34 0.036
387
c TRC078 Trichohepatoenteric Syndrome 2 34 0.036
388
c MNT149 Mental Retardation, X-Linked 3 33 0.036
389
CNZ006 Coenzyme Q10 Deficiency, Primary, 1 33 0.036
390
c MSC057 Muscular Dystrophy, Limb-Girdle, Type 1f 33 0.036
391
FML304 Familial Isolated Dilated Cardiomyopathy 33 0.036
392
CKS001 Ck Syndrome 32 0.036
393
WDS002 Woods Syndrome 32 0.036
394
c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 32 0.036
395
c PRN053 Porencephaly 1 32 0.036
396
PLC008 Placenta Disease 32 0.036
397
c PRM092 Primary Lateral Sclerosis, Adult, 1 31 0.036
398
KDN013 Kidney Hypertrophy 31 0.036
399
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 31 0.036
400
c MYP097 Myopathy with Lactic Acidosis, Hereditary 30 0.036
401
PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 30 0.036
402
NRM016 Neuromyotonia and Axonal Neuropathy, Autosomal Recessive 30 0.036
403
c MSC101 Muscular Dystrophy-Dystroglycanopathy , Type a, 7 30 0.036
404
EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 30 0.036
405
CHR387 Chromosome Xp21 Deletion Syndrome 30 0.036
406
c ACT072 Acute Laryngitis 30 0.036
407
PLC009 Placenta Praevia 30 0.036
408
c MSC043 Muscular Dystrophy-Dystroglycanopathy , Type a, 2 30 0.036
409
c GLY042 Glycogen Storage Disease Xi 30 0.036
410
c MSC044 Muscular Dystrophy-Dystroglycanopathy , Type B, 2 29 0.036
411
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 29 0.036
412
MTB007 Metabolic Encephalomyopathic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 29 0.036
413
MCD002 Mcdonough Syndrome 29 0.036
414
c MYG004 Myoglobinuria, Acute Recurrent, Autosomal Recessive 29 0.036
415
c MSC105 Muscular Dystrophy-Dystroglycanopathy , Type a, 13 29 0.036
416
STY001 Satoyoshi Syndrome 28 0.036
417
P ATS049 Autism Susceptibility, X-Linked 2 28 0.036
418
c MYC058 Myocardial Infarction 2 28 0.036
419
c EPL145 Epilepsy, Progressive Myoclonic 6 28 0.036
420
SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 28 0.036
421
c NML009 Nemaline Myopathy 2, Autosomal Recessive 28 0.036
422
c MSC041 Muscular Dystrophy-Dystroglycanopathy , Type a, 6 28 0.036
423
c MSC102 Muscular Dystrophy-Dystroglycanopathy , Type a, 12 28 0.036
424
WLN001 Welander Distal Myopathy 27 0.036
425
c CNG187 Congenital Disorder of Glycosylation, Type Iid 27 0.036
426
c CNG383 Congenital Disorder of Glycosylation, Type Iik 27 0.036
427
c MYP081 Myopathy, Myofibrillar, 6 27 0.036
428
c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 27 0.036
429
OST097 Osteoporotic Fracture 27 0.036
430
SLH001 Salih Myopathy 27 0.036
431
MTC062 Mitochondrial Dna Depletion Syndrome 2 27 0.036
432
HNM002 Hinman Syndrome 27 0.036
433
OCL063 Oculopharyngodistal Myopathy 26 0.036
434
c MSC127 Muscular Dystrophy-Dystroglycanopathy , Type a, 9 26 0.036
435
c LTH027 Lethal Congenital Contracture Syndrome 5 26 0.036
436
PKL002 Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis 26 0.036
437
c MSC097 Muscular Dystrophy-Dystroglycanopathy , Type a, 14 26 0.036
438
CLF051 Cleft Larynx, Posterior 26 0.036
439
c MSC045 Muscular Dystrophy-Dystroglycanopathy , Type a, 3 25 0.036
440
P ATS268 Autism X-Linked 4 25 0.036
441
c MYP106 Myopathy, Myosin Storage, Autosomal Recessive 25 0.036
442
c CHR480 Charcot-Marie-Tooth Disease, Recessive Intermediate C 25 0.036
443
c MNT145 Mental Retardation, Autosomal Recessive 5 25 0.036
444
MTC078 Mitochondrial Dna Depletion Syndrome 11 25 0.036
445
c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 24 0.036
446
c MSC099 Muscular Dystrophy-Dystroglycanopathy , Type B, 14 24 0.036
447
c PRK071 Parkinson Disease 14, Autosomal Recessive 24 0.036
448
P MSC094 Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies, Type a, 11 24 0.036
449
c MSC118 Muscular Dystrophy-Dystroglycanopathy , Type C, 12 24 0.036
450
P MYP095 Myopathy, Distal, 4 24 0.036
451
MTC025 Mitochondrial Myopathy with Diabetes 24 0.036
452
INC016 Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia 1 24 0.036
453
CMB014 Combined Oxidative Phosphorylation Deficiency 3 24 0.036
454
c ATS173 Autism 18 24 0.036
455
c SPR049 Supranuclear Palsy, Progressive, 2 24 0.036
456
c ATS358 Autism X-Linked 6 24 0.036
457
HRD162 Hereditary Motor and Sensory Neuropathy, Okinawa Type 24 0.036
458
MYS045 Myasthenia, Congenital, 12, with Tubular Aggregates 24 0.036
459
MYS021 Myosclerosis, Congenital 23 0.036
460
c CHR618 Charcot-Marie-Tooth Disease, Axonal, Type 2cc 23 0.036
461
c CNG207 Congenital Disorder of Glycosylation, Type Io 23 0.036
462
MSC052 Muscular Dystrophy, Congenital, Due to Itga7 Deficiency 23 0.036
463
CMB064 Combined Oxidative Phosphorylation Deficiency 24 23 0.036
464
PRL013 Paralytic Poliomyelitis 23 0.036
465
PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 23 0.036
466
c SYS053 Systemic Lupus Erythematosus 5 23 0.036
467
c CNG386 Congenital Disorder of Glycosylation, Type Iu 22 0.036
468
c MYP088 Myopathy, Tubular Aggregate, 2 22 0.036
469
MNT014 Mental Retardation Epilepsy 22 0.036
470
RDC011 Reducing Body Myopathy, X-Linked 1a, Severe, Infantile or Early Childhood Onset 22 0.036
471
EPP021 Epiphyseal Dysplasia, Multiple, 3, with or Without Myopathy 22 0.036
472
c SYS055 Systemic Lupus Erythematosus 12 22 0.036
473
PRG103 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 22 0.036
474
PRG102 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 21 0.036
475
c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 21 0.036
476
MTC116 Mitochondrial Myopathy, Infantile, Transient 21 0.036
477
SPN267 Spinal Muscular Atrophy, Jokela Type 21 0.036
478
c MYP096 Myopathy, Centronuclear, 3 20 0.036
479
MYP121 Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related 20 0.036
480
MYP035 Myopathy, Distal, with Anterior Tibial Onset 20 0.036
481
MYP086 Myopathy with Extrapyramidal Signs 20 0.036
482
c MYP112 Myopathy, Distal, 3 20 0.036
483
c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 20 0.036
484
MTR031 Motor Neuro-Ophthalmic Disorders 19 0.036
485
INC024 Inclusion Body Myopathy with Early-Onset Paget Disease Without Frontotemporal Dementia 3 19 0.036
486
MYP099 Myopathy, Isolated Mitochondrial, Autosomal Dominant 18 0.036
487
c CRN176 Coronary Heart Disease 9 18 0.036
488
MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 18 0.036
489
MYP071 Myopathy Due to Myoadenylate Deaminase Deficiency 18 0.036
490
c HYP697 Hyperphosphatasia with Mental Retardation Syndrome 6 18 0.036
491
c MYP105 Myopathy, Myosin Storage, Autosomal Dominant 18 0.036
492
c MYP118 Myopathy, Myofibrillar, 8 18 0.036
493
c MSC137 Muscular Dystrophy, Limb-Girdle, Type 2z 17 0.036
494
CMP076 Camptodactyly with Muscular Hypoplasia, Skeletal Dysplasia, and Abnormal Palmar Creases 17 0.036
495
SPR038 Supranuclear Ocular Palsy 17 0.036
496
ZBR001 Zebra Body Myopathy 17 0.036
497
RDC012 Reducing Body Myopathy, X-Linked 1b, with Late Childhood or Adult Onset 17 0.036
498
STT044 Statin Toxicity 17 0.036
499
UPP009 Upper Limb Hypertrophy 16 0.036
500
c ATS172 Autism 10 16 0.036
501
INB001 Inborn Amino Acid Metabolism Disorder 14 0.036
502
LMN004 Laminopathy Type Decaudain-Vigouroux 14 0.036
503
c DLT001 Delta Chain Disease 14 0.036
504
c MYG006 Myoglobinuria, Autosomal Dominant 13 0.036
505
MYP067 Myopathy, Distal, Tateyama Type 13 0.036
506
XQ1001 Xq12-Q13.3 Duplication Syndrome 13 0.036
507
MYP113 Myopathy, Distal, with Early Respiratory Failure, Autosomal Dominant 12 0.036
508
MYP110 Myopathy-Growth Delay-Intellectual Disability-Hypospadias Syndrome 10 0.036
509
MNT033 Mental Retardation X-Linked Dysmorphism 9 0.036
510
P OBS005 Obesity 91 0.025
511
P PRS040 Prostate Cancer 88 0.025
512
P RNL014 Renal Cell Carcinoma 80 0.025
513
P PLM037 Pulmonary Hypertension 77 0.025
514
P ALZ034 Alzheimer Disease 76 0.025
515
INS024 Insulin-Like Growth Factor I 75 0.025
516
c DLT002 Dilated Cardiomyopathy 74 0.025
517
CRH001 Crohn's Disease 73 0.025
518
P LVR013 Liver Disease 72 0.025
519
PHN003 Phenylketonuria 72 0.025
520
P LKM002 Leukemia 72 0.025
521
P LYN001 Lynch Syndrome 71 0.025
522
c HPT073 Hepatitis C Virus 70 0.025
523
SQM006 Squamous Cell Carcinoma 69 0.025
524
P ADN016 Adenocarcinoma 69 0.025
525
P RSP003 Respiratory Failure 68 0.025
526
c HRD010 Hereditary Spastic Paraplegia 66 0.025
527
LVR012 Liver Cirrhosis 66 0.025
528
CHG001 Chagas Disease 66 0.025
529
CNT098 Central Core Disease 66 0.025
530
ACH004 Achondroplasia 66 0.025
531
P ATR011 Atrial Fibrillation 65 0.025
532
P ATS007 Autism Spectrum Disorder 65 0.025
533
ATH003 Atherosclerosis 65 0.025
534
c HMP029 Hemophilia a 64 0.025
535
OBS002 Obsessive-Compulsive Disorder 64 0.025
536
P AMY004 Amyloidosis 64 0.025
537
P MYL006 Myeloid Leukemia 64 0.025
538
P AST007 Astrocytoma 63 0.025
539
P THR014 Thrombocytopenia 63 0.025
540
ART005 Arteriovenous Malformation 63 0.025
541
P CNJ013 Conjunctivitis 63 0.025
542
P SPN046 Spinal Muscular Atrophy 63 0.025
543
FBR011 Fibrodysplasia Ossificans Progressiva 63 0.025
544
GLL008 Gilles De La Tourette Syndrome 63 0.025
545
P CLD001 Cleidocranial Dysplasia 62 0.025
546
P SHR029 Short Syndrome 61 0.025
547
LNG099 Lung Disease 61 0.025
548
P ENC004 Encephalitis 61 0.025
549
HYP056 Hypoglycemia 60 0.025
550
INS001 Insulinoma 60 0.025
551
RSP006 Respiratory System Disease 60 0.025
552
PLM033 Pulmonary Embolism 59 0.025
553
DBT087 Diabetes Insipidus, Neurohypophyseal 59 0.025
554
P DRR001 Diarrhea 59 0.025
555
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58 0.025
556
P MTR012 Mitral Valve Disease 58 0.025
557
IMG001 Image Syndrome 58 0.025
558
DPH001 Diphtheria 57 0.025
559
P UVT001 Uveitis 57 0.025
560
P CTR002 Cataract 57 0.025
561
P GRV001 Graves' Disease 57 0.025
562
ART017 Aortic Disease 57 0.025
563
CNS004 Constipation 56 0.025
564
ORL015 Oral Squamous Cell Carcinoma 55 0.025
565
BRN012 Bronchiolitis Obliterans 55 0.025
566
P BRC006 Brachydactyly 55 0.025
567
PRS047 Prostatitis 55 0.025
568
DBT010 Diabetic Neuropathy 54 0.025
569
P CNG001 Congenital Myasthenic Syndrome 54 0.025
570
CRB037 Cerebral Palsy 54 0.025
571
c EPS035 Episodic Ataxia, Type 2 54 0.025
572
P EPS003 Episodic Ataxia 54 0.025
573
c GLY007 Glycogen Storage Disease Iv 54 0.025
574
P THY032 Thyroiditis 53 0.025
575
P HYP076 Hyperthyroidism 53 0.025
576
P LPD010 Lipodystrophy 53 0.025
577
PLC005 Placental Insufficiency 53 0.025
578
DMY004 Demyelinating Disease 53 0.025
579
SPN027 Spinal Stenosis 53 0.025
580
LYM019 Lymphosarcoma 53 0.025
581
RSS002 Roussy-Levy Syndrome 53 0.025
582
P END033 Endocarditis 53 0.025
583
TRN015 Transient Cerebral Ischemia 53 0.025
584
P STR020 Strabismus 52 0.025
585
P HYP024 Hypoparathyroidism 52 0.025
586
HYP080 Hypogonadism 52 0.025
587
BRN002 Bronchiolitis 52 0.025
588
P SPS003 Spastic Diplegia 52 0.025
589
CHY002 Chylomicron Retention Disease 52 0.025
590
CHL014 Cholera 52 0.025
591
P DBT005 Diabetes Insipidus 52 0.025
592
FDL002 Food Allergy 51 0.025
593
RTN018 Retinal Disease 51 0.025
594
P PTT014 Pitt-Hopkins Syndrome 51 0.025
595
INT007 Intermediate Coronary Syndrome 50 0.025
596
TCD001 Tic Disorder 50 0.025
597
P PRX021 Proximal Symphalangism 50 0.025
598
TXC002 Toxic Encephalopathy 50 0.025
599
c CNG464 Congenital Myopathy 50 0.025
600
HYP005 Hypokalemia 50 0.025
601
MSC072 Muscle Cancer 50 0.025
602
CLN015 Colon Adenocarcinoma 49 0.025
603
ASP001 Asperger Syndrome 49 0.025
604
VND001 Vein Disease 49 0.025
605
CRN030 Coronary Stenosis 49 0.025
606
P GNT008 Giant Cell Tumor 48 0.025
607
PRP016 Paraplegia 48 0.025
608
SCH012 Schizoaffective Disorder 48 0.025
609
HYP141 Hyperphenylalaninemia 48 0.025
610
CRC006 Carcinoid Syndrome 48 0.025
611
CNN003 Conn's Syndrome 48 0.025
612
P CHR345 Chronic Pain 48 0.025
613
P HYP366 Hyperkalemic Periodic Paralysis, Type 2 47 0.025
614
MTB004 Metabolic Acidosis 47 0.025
615
BCT015 Bacteremia 47 0.025
616
DBT004 Diabetic Polyneuropathy 47 0.025
617
LMB062 Limb Ischemia 47 0.025
618
DYS073 Dysphagia 47 0.025
619
c BRC078 Brachydactyly, Type A1 47 0.025
620
NPH003 Nephrocalcinosis 47 0.025
621
CCN002 Cocaine Abuse 47 0.025
622
HYP063 Hypersplenism 47 0.025
623
UPP004 Upper Respiratory Tract Disease 46 0.025
624
KRT010 Kartagener Syndrome 46 0.025
625
c SCN036 Secondary Progressive Multiple Sclerosis 46 0.025
626
P PSD015 Pseudohypoparathyroidism 46 0.025
627
PTT009 Pituitary Gland Disease 46 0.025
628
SBP001 Subependymal Giant Cell Astrocytoma 46 0.025
629
ILT001 Ileitis 46 0.025
630
ACT017 Acute Chest Syndrome 45 0.025
631
CRB085 Cerebral Hemorrhage 45 0.025
632
c AMY009 Amyloidosis Aa 45 0.025
633
ART004 Aortic Atherosclerosis 45 0.025
634
P PRM108 Primary Progressive Multiple Sclerosis 45 0.025
635
c INH020 Inherited Metabolic Disorder 45 0.025
636
P CRV039 Cervicitis 45 0.025
637
MNN009 Meningoencephalitis 45 0.025
638
NCR007 Necrotizing Fasciitis 45 0.025
639
P RNL017 Renal Oncocytoma 45 0.025
640
CRD118 Cardiovascular Cancer 45 0.025
641
c BRC079 Brachydactyly, Type A2 44 0.025
642
FSC004 Fasciitis 44 0.025
643
HPR003 Heparin-Induced Thrombocytopenia 44 0.025
644
HRT015 Heritable Pulmonary Arterial Hypertension 44 0.025
645
MYC005 Myocardial Stunning 44 0.025
646
c PLN018 Peeling Skin Syndrome 2 43 0.025
647
THR024 Thrombosis 43 0.025
648
c CNG012 Congenital Generalized Lipodystrophy 43 0.025
649
DPN005 Du Pan Syndrome 43 0.025
650
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 42 0.025
651
LFT009 Left Ventricular Outflow Tract Obstruction 42 0.025
652
P DMY001 Demyelinating Polyneuropathy 42 0.025
653
LKM006 Leukomalacia 42 0.025
654
PRM025 Primary Bacterial Infectious Disease 42 0.025
655
NTV001 Native American Myopathy 42 0.025
656
SPS057 Spasticity 42 0.025
657
RNL097 Renal Artery Disease 42 0.025
658
c PRM225 Primary Thrombocytopenia 42 0.025
659
SYN031 Synovial Chondromatosis 42 0.025
660
CNT060 Central Serous Chorioretinopathy 42 0.025
661
END072 Endotheliitis 41 0.025
662
VGN023 Vaginitis 41 0.025
663
PHC013 Phaeochromocytoma 41 0.025
664
c CHR283 Chronic Inflammatory Demyelinating Polyneuropathy 40 0.025
665
MYT011 Myotonia 40 0.025
666
HYP070 Hyperpituitarism 40 0.025
667
BLD054 Blood Protein Disease 39 0.025
668
PRX014 Proximal Spinal Muscular Atrophy 39 0.025
669
c PRG001 Progressive Muscular Atrophy 39 0.025
670
P MLT072 Multiple Synostoses Syndrome 38 0.025
671
SPN369 Spinal Disease 38 0.025
672
PYM001 Pyomyositis 38 0.025
673
BNR001 Bone Remodeling Disease 38 0.025
674
TTR016 Tetra-Amelia Syndrome 38 0.025
675
ALC010 Alcoholic Cardiomyopathy 38 0.025
676
CNT025 Central Pontine Myelinolysis 38 0.025
677
c PLN017 Peeling Skin Syndrome 1 38 0.025
678
ACT167 Acute Generalized Exanthematous Pustulosis 38 0.025
679
DST004 Distal Muscular Dystrophy 38 0.025
680
c BRC081 Brachydactyly, Type C 37 0.025
681
MTR007 Motor Peripheral Neuropathy 37 0.025
682
P CRB059 Cerebellar Degeneration 37 0.025
683
c THR037 Thrombocytopenia 2 37 0.025
684
OLG001 Oligospermia 37 0.025
685
PHT003 Phototoxic Dermatitis 37 0.025
686
c INF041 Infantile-Onset Ascending Hereditary Spastic Paralysis 37 0.025
687
c THR111 Thrombocytopenia 3 37 0.025
688
c MLG132 Malignant Hyperthermia Susceptibility 1 36 0.025
689
PRS063 Paresthesia 36 0.025
690
c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35 0.025
691
PLS010 Plasma Protein Metabolism Disease 35 0.025
692
HYP264 Hypertonia 35 0.025
693
CHN057 Chondrodysplasia, Grebe Type 35 0.025
694
TRS002 Tarsal-Carpal Coalition Syndrome 35 0.025
695
HYP064 Hypogonadotropism 35 0.025
696
ADP007 Adie Pupil 35 0.025
697
c MLT059 Multiple Synostoses Syndrome 1 35 0.025
698
c ATS359 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 35 0.025
699
CHN004 Chondroblastoma 35 0.025
700
URT014 Ureterolithiasis 35 0.025
701
c CRN278 Craniosynostosis 1 35 0.025
702
ACD004 Acdc 35 0.025
703
HYD001 Hydranencephaly 35 0.025
704
P MYG005 Myoglobinuria 34 0.025
705
HMC014 Homocysteinemia 34 0.025
706
HRD054 Hereditary Neuropathy with Liability to Pressure Palsy 34 0.025
707
NRV004 Nerve Compression Syndrome 34 0.025
708
c AMY062 Amyotrophic Lateral Sclerosis 12 34 0.025
709
SPS019 Spastic Paraparesis 34 0.025
710
KWS001 Kwashiorkor 34 0.025
711
c CNG112 Congenital Muscular Dystrophy Type 1a 34 0.025
712
MDY005 Mody, Type I 34 0.025
713
LYM005 Lymphocele 33 0.025
714
c NRP014 Neuropathy, Hereditary Sensory, with Spastic Paraplegia 33 0.025
715
DYS030 Dysferlinopathy 33 0.025
716
SWL001 Swallowing Disorders 32 0.025
717
P END046 Endometritis 32 0.025
718
c MSC095 Muscular Dystrophy, Limb-Girdle, Type 2r 32 0.025
719
c AMY063 Amyotrophic Lateral Sclerosis 20 31 0.025
720
c CNG204 Congenital Disorder of Glycosylation, Type Iih 31 0.025
721
SPR016 Spermatic Cord Torsion 31 0.025
722
c THR102 Thrombocytopenia 5 31 0.025
723
VTM003 Vitamin Metabolic Disorder 31 0.025
724
FRT005 Fruit Allergy 31 0.025
725
EST003 Eastern Equine Encephalitis 30 0.025
726
ACR016 Acromesomelic Dysplasia 30 0.025
727
DYS001 Dyskinetic Cerebral Palsy 30 0.025
728
c PLM128 Pulmonary Hypertension, Primary, 2 30 0.025
729
ALR002 Al-Raqad Syndrome 29 0.025
730
c PLM121 Pulmonary Hypertension, Primary, 4 29 0.025
731
PND004 Pandas 29 0.025
732
PRN032 Paraneoplastic Cerebellar Degeneration 29 0.025
733
DPH007 Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma 29 0.025
734
c CNT068 Central Pain Syndrome 29 0.025
735
WRT002 Writing Disorder 29 0.025
736
ANG060 Angiopathy, Hereditary, with Nephropathy, Aneurysms, and Muscle Cramps 29 0.025
737
CRY032 Carey-Fineman-Ziter Syndrome 28 0.025
738
AXL003 Axial Osteomalacia 28 0.025
739
MNC011 Minicore Myopathy with External Ophthalmoplegia 27 0.025
740
ATM052 Autoimmune Disease 1 27 0.025
741
c MSC116 Muscular Dystrophy, Limb-Girdle, Type 2f 27 0.025
742
c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 27 0.025
743
SPN252 Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy 27 0.025
744
c MLT094 Multiple Sclerosis 3 26 0.025
745
PHS010 Phosphoglycerate Mutase Deficiency 26 0.025
746
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 25 0.025
747
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 25 0.025
748
c SPS013 Spastic Paraplegia 8 25 0.025
749
PTT010 Pituitary Infarct 25 0.025
750
c HRD138 Hereditary Motor and Sensory Neuropathy V 25 0.025
751
KHL001 Kohler's Disease 25 0.025
752
c MYG003 Myoglobinuria Recurrent 25 0.025
753
P SPS154 Spastic Paralysis, Infantile Onset Ascending 25 0.025
754
CHL045 Choline Deficiency Disease 24 0.025
755
SPN303 Spinal Muscular Atrophy, Distal, Congenital Nonprogressive 24 0.025
756
c SPS020 Spastic Paraplegia 1 23 0.025
757
VBR003 Vibrio Vulnificus Infection 23 0.025
758
c CNG497 Congenital Disorder of Glycosylation, Type Iio 23 0.025
759
c RNL016 Renal Infectious Disease 23 0.025
760
NCT013 N-Acetylaspartate Deficiency 23 0.025
761
ATR024 Atrial Fibrillation and Stroke 22 0.025
762
c ART112 Arthrogryposis, Distal, Type 10 22 0.025
763
MND006 Mondor Disease 22 0.025
764
MYP038 Myopathy, Congenital, Compton-North 22 0.025
765
TCK002 Tick Paralysis 22 0.025
766
c CNT095 Centronuclear Myopathy 5 21 0.025
767
c MYP098 Myopathy, Centronuclear, 4 21 0.025
768
INC015 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 2 20 0.025
769
c MYP119 Myopathy, Myofibrillar, 7 20 0.025
770
PRG128 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 19 0.025
771
c NML024 Nemaline Myopathy 11, Autosomal Recessive 19 0.025
772
c PLY141 Polycystic Kidney Disease 5 19 0.025
773
c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19 0.025
774
c CRN173 Coronary Heart Disease 8 19 0.025
775
c MLT095 Multiple Sclerosis 4 18 0.025
776
MYP120 Myopathy, Distal, with Rimmed Vacuoles 18 0.025
777
ATM054 Autoimmune Disease 3 18 0.025
778
c MYP116 Myopathy, Distal, 5 17 0.025
779
BNM008 Bone Mineral Density, Low 17 0.025
780
c LSS035 Lissencephaly 8 17 0.025
781
c LPR019 Lipe-Related Familial Partial Lipodystrophy 17 0.025
782
NRD029 Neurodevelopmental Disorder with Involuntary Movements 17 0.025
783
LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 17 0.025
784
c SPS064 Spastic Paraplegia 45 16 0.025
785
c MLT151 Multiple Mitochondrial Dysfunctions Syndrome 5 16 0.025
786
MSC142 Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability 16 0.025
787
PRG129 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3 16 0.025
788
LTH004 Lathyrism 16 0.025
789
c SPS173 Spastic Paraplegia 43 15 0.025
790
HMR014 Hemorrhagic Shock and Encephalopathy Syndrome 14 0.025
791
c MTR062 Maternal Uniparental Disomy of Chromosome 4 14 0.025
792
SGM003 Segmentation Syndrome 1 14 0.025
793
HRD059 Hereditary Peripheral Nervous Disorder 13 0.025
794
PRT056 Protein R Deficiency 12 0.025
795
MYP122 Myopathy, Congenital, with Neuropathy and Deafness 11 0.025
796
WLN002 Welander Distal Myopathy, Swedish Type 8 0.025
797
P NRP005 Neuropathy Sensory Spastic Paraplegia 8 0.025
798
P HYP187 Hypertryptophanemia 8 0.025
Content
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