Search results for Glycine

1222 hits were found for Glycine

# Family MCID Name MIFTS Score
1
GLY010 Glycine Encephalopathy 60 7.922
2
GLY015 Glycine N-Methyltransferase Deficiency 39 7.886
3
CRB148 Cerebral Creatine Deficiency Syndrome 3 43 6.680
4
GLY094 Glycine Encephalopathy with Normal Serum Glycine 23 6.044
5
LRG010 L-Arginine:glycine Amidinotransferase Deficiency 12 3.696
6
HYP003 Hypermethioninemia 44 2.997
7
ATY025 Atypical Glycine Encephalopathy 16 2.158
8
c OBS573 Obsolete: Channelopathy Due to a Neuronal Glycine Receptor Defect 3 2.130
9
DSR076 Disorder of Serine or Glycine Metabolism 3 2.130
10
c NRL032 Neurological Channelopathy of the Central Nervous System Due to a Genetic Glycine Receptor Defect 2 2.130
11
PYR031 Pyruvate Dehydrogenase E3-Binding Protein Deficiency 41 2.088
12
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.425
13
P HYP097 Hyperekplexia 61 0.245
14
HLX001 Helix Syndrome 47 0.237
15
P ENC018 Encephalopathy 61 0.195
16
BRT054 Brittle Bone Disorder 70 0.178
17
P SCH015 Schizophrenia 75 0.171
18
JMP002 Jumping Frenchmen of Maine 24 0.157
19
P EPD016 Epidermolysis Bullosa 53 0.148
20
P MYC033 Myoclonus 46 0.135
21
IRN002 Iron Metabolism Disease 57 0.133
22
P EPD009 Epidermolysis Bullosa Dystrophica 64 0.132
23
P SZR006 Seizure Disorder 58 0.126
24
P DRR001 Diarrhea 57 0.125
25
P CHR345 Chronic Pain 50 0.123
26
P HYP265 Hypotonia 42 0.123
27
DFC004 Deficiency Anemia 75 0.119
28
VSL002 Visual Epilepsy 58 0.119
29
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.117
30
ALC007 Alcohol Dependence 66 0.113
31
ISC004 Ischemia 60 0.113
32
P LTR001 Lateral Sclerosis 53 0.113
33
SPS057 Spasticity 41 0.109
34
P HPT023 Hepatocellular Carcinoma 100 0.107
35
HYP264 Hypertonia 38 0.105
36
IRN001 Iron Deficiency Anemia 58 0.103
37
P NRB001 Neuroblastoma 71 0.098
38
P CLR023 Colorectal Cancer 98 0.096
39
c HYP699 Hyperekplexia 1 50 0.096
40
CHL014 Cholera 55 0.093
41
c OST080 Osteogenesis Imperfecta, Type Ii 55 0.093
42
STF001 Stiff-Person Syndrome 60 0.091
43
CRB004 Cerebral Artery Occlusion 44 0.091
44
48X005 48,xyyy 39 0.091
45
PRG110 Progressive Encephalomyelitis with Rigidity and Myoclonus 22 0.091
46
GLB015 Glioblastoma Multiforme 75 0.088
47
P LVR013 Liver Disease 68 0.088
48
NTR005 Nutritional Deficiency Disease 61 0.088
49
PNG002 Pain Agnosia 51 0.088
50
P EHL001 Ehlers-Danlos Syndrome 57 0.085
51
IMN001 Iminoglycinuria 45 0.085
52
ANX004 Anoxia 42 0.085
53
P TRM003 Tremor 53 0.083
54
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.083
55
PSY004 Psychotic Disorder 67 0.080
56
PRT037 Pertussis 65 0.080
57
HYP266 Hypoxia 56 0.080
58
HYP348 Hyperglycinuria 41 0.080
59
PLY100 Polyploidy 40 0.080
60
HYP056 Hypoglycemia 66 0.077
61
P GLM045 Glioma 63 0.077
62
P PRD008 Periodontitis 62 0.077
63
FTT001 Fatty Liver Disease 61 0.077
64
SPN186 Spinal Cord Injury 60 0.077
65
EHL052 Ehlers-Danlos Syndrome, Vascular Type 56 0.077
66
ISV001 Isovaleric Acidemia 56 0.077
67
GLL048 Glial Tumor 45 0.077
68
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.077
69
P MYP004 Myopathy 64 0.074
70
DPR016 Depression 63 0.074
71
P PRM002 Primary Hyperoxaluria 62 0.074
72
P PRP029 Porphyria 62 0.074
73
P ALC033 Alcohol Use Disorder 58 0.074
74
47X002 47,xyy 49 0.074
75
PPL052 Papillomatosis, Confluent and Reticulated 34 0.074
76
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.071
77
P MSC005 Muscular Dystrophy 66 0.071
78
MNT002 Mental Depression 57 0.071
79
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56 0.071
80
c EPD076 Epidermolysis Bullosa Dystrophica, Autosomal Recessive 52 0.071
81
NNL006 Non-Alcoholic Steatohepatitis 51 0.071
82
ATS010 Autosomal Recessive Disease 48 0.071
83
CRT055 Creatine Deficiency Syndromes 38 0.071
84
ADG002 Audiogenic Seizures 26 0.071
85
P EPL164 Epilepsy 71 0.068
86
HMN044 Human Immunodeficiency Virus Type 1 71 0.068
87
P MJR001 Major Depressive Disorder 68 0.068
88
c ATS007 Autism Spectrum Disorder 67 0.068
89
P ATS364 Autism 65 0.068
90
P MVM001 Movement Disease 61 0.068
91
c ACT071 Acute Kidney Failure 59 0.068
92
OCL069 Ocular Motor Apraxia 51 0.068
93
HMP009 Haemophilus Influenzae 42 0.068
94
HRW001 Hair Whorl 36 0.068
95
GLY105 Glyt1 Encephalopathy 6 0.068
96
CYS001 Cystic Fibrosis 80 0.064
97
ANX010 Anxiety 72 0.064
98
c HYP836 Hypercholesterolemia, Familial, 1 72 0.064
99
P KDN018 Kidney Disease 70 0.064
100
PRP001 Propionic Acidemia 66 0.064
101
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.064
102
TTN003 Tetanus 64 0.064
103
P ADN016 Adenocarcinoma 64 0.064
104
LVR012 Liver Cirrhosis 63 0.064
105
LPD008 Lipid Metabolism Disorder 62 0.064
106
LNG099 Lung Disease 61 0.064
107
CHL068 Cholestasis 60 0.064
108
P OST122 Osteogenesis Imperfecta, Type Iii 57 0.064
109
SCH003 Schizophreniform Disorder 56 0.064
110
HMC014 Homocysteinemia 53 0.064
111
PHS023 Phosphoserine Aminotransferase Deficiency 41 0.064
112
P RSP003 Respiratory Failure 74 0.060
113
OST159 Osteogenic Sarcoma 66 0.060
114
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.060
115
HYP066 Hyperglycemia 61 0.060
116
P BPL003 Bipolar Disorder 56 0.060
117
c OST135 Osteogenesis Imperfecta, Type I 55 0.060
118
RCS002 Recessive Dystrophic Epidermolysis Bullosa 53 0.060
119
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.060
120
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.060
121
P MJR007 Major Affective Disorder 1 43 0.060
122
c MJR024 Major Affective Disorder 9 41 0.060
123
c MJR022 Major Affective Disorder 8 38 0.060
124
SPS211 Spasticity, Childhood-Onset, with Hyperglycinemia 24 0.060
125
P LNG032 Lung Cancer 97 0.057
126
P BRS047 Breast Cancer 96 0.057
127
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.057
128
OBS002 Obsessive-Compulsive Disorder 68 0.057
129
P ALP004 Alport Syndrome 68 0.057
130
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.057
131
ALL026 Allergic Hypersensitivity Disease 64 0.057
132
GT001 Gout 63 0.057
133
CYS013 Cystinuria 62 0.057
134
PPT005 Peptic Ulcer Disease 58 0.057
135
P FTT008 Fatty Liver Disease, Nonalcoholic 1 57 0.057
136
THR013 Thoracic Outlet Syndrome 53 0.057
137
P MSC003 Muscular Atrophy 52 0.057
138
P MTH008 Methylmalonic Acidemia 51 0.057
139
P TMP001 Temporal Lobe Epilepsy 50 0.057
140
c OST121 Osteogenesis Imperfecta, Type Iv 49 0.057
141
LYM019 Lymphosarcoma 47 0.057
142
c INH020 Inherited Metabolic Disorder 46 0.057
143
c HYP595 Hypertension, Essential 84 0.052
144
OST012 Osteoarthritis 78 0.052
145
P HNT016 Huntington Disease 71 0.052
146
P CNR004 Cone-Rod Dystrophy 2 71 0.052
147
P DMN002 Dementia 67 0.052
148
SPN209 Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations 66 0.052
149
c RHB024 Rhabdomyosarcoma 2 65 0.052
150
P MTR014 Motor Neuron Disease 64 0.052
151
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.052
152
P VSC007 Vascular Disease 63 0.052
153
P ANR048 Aniridia 1 63 0.052
154
ANR007 Anorexia Nervosa 63 0.052
155
MDD011 Mood Disorder 62 0.052
156
c BRN108 Branchiootic Syndrome 1 61 0.052
157
P CTR002 Cataract 60 0.052
158
ACN002 Acanthosis Nigricans 60 0.052
159
P TRC086 Trichohepatoenteric Syndrome 1 59 0.052
160
P PRV006 Pervasive Developmental Disorder 57 0.052
161
MCS002 Mucositis 55 0.052
162
P LYM031 Lymphocytic Leukemia 55 0.052
163
AMN003 Amnestic Disorder 54 0.052
164
c PRD040 Periodontitis, Chronic 54 0.052
165
PRS021 Prostatic Adenoma 51 0.052
166
STM007 Stomatitis 49 0.052
167
BRN071 Brain Injury 49 0.052
168
PHS021 Phosphoglycerate Dehydrogenase Deficiency 46 0.052
169
CYT002 Cytokine Deficiency 44 0.052
170
ALK024 Alkuraya-Kucinskas Syndrome 43 0.052
171
CVT001 Cavitary Optic Disc Anomalies 38 0.052
172
ATX010 Ataxia Neuropathy Spectrum 38 0.052
173
c MJR008 Major Affective Disorder 2 34 0.052
174
c MJR003 Major Affective Disorder 6 33 0.052
175
c MJR006 Major Affective Disorder 5 33 0.052
176
MLT150 Multiple Mitochondrial Dysfunctions Syndrome 2 with Hyperglycinemia 33 0.052
177
c MJR023 Major Affective Disorder 7 33 0.052
178
ACT064 Acute Necrotizing Encephalitis 32 0.052
179
PLY150 Polykaryocytosis Inducer 31 0.052
180
ISL099 Isolated Methylmalonic Acidemia 30 0.052
181
c MJR004 Major Affective Disorder 4 28 0.052
182
HYP719 Hyperglycinemia, Lactic Acidosis, and Seizures 28 0.052
183
BLD137 Blood Group--Ahonen 19 0.052
184
P PRS040 Prostate Cancer 97 0.048
185
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.048
186
P OVR042 Ovarian Cancer 89 0.048
187
NRL016 Neural Tube Defects 82 0.048
188
INS024 Insulin-Like Growth Factor I 79 0.048
189
P ART022 Arthritis 70 0.048
190
P FRN006 Frontotemporal Dementia 70 0.048
191
P OCL013 Oculodentodigital Dysplasia 69 0.048
192
c SML038 Small Cell Cancer of the Lung 65 0.048
193
P PRS038 Personality Disorder 65 0.048
194
P DBT009 Diabetes Mellitus 64 0.048
195
CLF027 Cleft Palate, Isolated 64 0.048
196
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.048
197
KHL003 Kohlschutter-Tonz Syndrome 64 0.048
198
SKN016 Skin Disease 63 0.048
199
ALC006 Alcoholic Hepatitis 61 0.048
200
TXC005 Toxic Shock Syndrome 61 0.048
201
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 60 0.048
202
STT001 Status Epilepticus 59 0.048
203
GST045 Gastroenteritis 59 0.048
204
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.048
205
CNS004 Constipation 57 0.048
206
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.048
207
MTH009 Mouth Disease 56 0.048
208
GLC003 Glucose Intolerance 54 0.048
209
P RNL017 Renal Oncocytoma 53 0.048
210
PRS045 Prostatic Hypertrophy 52 0.048
211
SCH012 Schizoaffective Disorder 50 0.048
212
P AST007 Astrocytoma 50 0.048
213
URM002 Uremia 49 0.048
214
P TCL004 T-Cell Leukemia 47 0.048
215
DWR001 Dwarfism 44 0.048
216
BKR002 Baker-Gordon Syndrome 40 0.048
217
EPD022 Epidermolysis Bullosa Pruriginosa 40 0.048
218
c ACT004 Acute Diarrhea 39 0.048
219
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 36 0.048
220
CRB137 Cerebral Creatine Deficiency Syndrome 33 0.048
221
MYC088 Mycobacterium Avium Complex Infections 29 0.048
222
PST092 Posttransplant Acute Limbic Encephalitis 29 0.048
223
AND005 Androgen Insensitivity Syndrome, Mild 22 0.048
224
P PNC035 Pancreatic Cancer 84 0.043
225
P RHM011 Rheumatoid Arthritis 80 0.043
226
AST005 Asthma 77 0.043
227
P HYP086 Hypothyroidism 68 0.043
228
P LKM062 Leukemia, Acute Lymphoblastic 68 0.043
229
P PLM037 Pulmonary Hypertension 68 0.043
230
BRN024 Bronchitis 68 0.043
231
P CRD119 Cardiac Arrest 67 0.043
232
P NSP012 Nasopharyngeal Carcinoma 67 0.043
233
CNN005 Connective Tissue Disease 66 0.043
234
ATH013 Atherosclerosis Susceptibility 66 0.043
235
SRC014 Sarcoma 65 0.043
236
CLN015 Colon Adenocarcinoma 63 0.043
237
P CRN300 Coronary Heart Disease 1 63 0.043
238
P NPH012 Nephrotic Syndrome 63 0.043
239
CLT003 Colitis 62 0.043
240
P PRM006 Primary Biliary Cirrhosis 61 0.043
241
DRM006 Dermatitis 61 0.043
242
HPT019 Hepatic Encephalopathy 60 0.043
243
P GLY013 Glycogen Storage Disease 59 0.043
244
THY029 Thyroid Carcinoma 59 0.043
245
P PLY014 Polycystic Kidney Disease 59 0.043
246
CHL123 Chlamydia 59 0.043
247
P BNC003 Bone Cancer 57 0.043
248
GST033 Gestational Diabetes 57 0.043
249
DSS008 Disease of Mental Health 57 0.043
250
P STC001 Stickler Syndrome 57 0.043
251
P NRP001 Neuropathy 56 0.043
252
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.043
253
BCT022 Bacterial Infectious Disease 56 0.043
254
CMM005 Common Cold 56 0.043
255
P INF037 Inflammatory Bowel Disease 56 0.043
256
BRN004 Brain Edema 55 0.043
257
P ALP106 Alport Syndrome 1, X-Linked 55 0.043
258
P JNC001 Junctional Epidermolysis Bullosa 54 0.043
259
P TCD001 Tic Disorder 54 0.043
260
TRM010 Traumatic Brain Injury 53 0.043
261
TND005 Tendinitis 52 0.043
262
P LCT001 Lactic Acidosis 51 0.043
263
c ACT134 Acute Liver Failure 51 0.043
264
SPN035 Spindle Cell Sarcoma 51 0.043
265
MTB004 Metabolic Acidosis 50 0.043
266
PRS129 Prostatic Hyperplasia, Benign 49 0.043
267
CRB151 Cerebral Creatine Deficiency Syndrome 1 48 0.043
268
WTH001 Withdrawal Disorder 48 0.043
269
ATX019 Ataxia with Vitamin E Deficiency 48 0.043
270
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.043
271
CHR074 Choriocarcinoma 46 0.043
272
CHL147 Chlamydia Pneumonia 45 0.043
273
CRT015 Carotid Artery Occlusion 44 0.043
274
OBS003 Obsessive-Compulsive Personality Disorder 44 0.043
275
HPT004 Hepatic Coma 43 0.043
276
c EPD071 Epidermolysis Bullosa Dystrophica, Autosomal Dominant 42 0.043
277
P HYP111 Hyperprolinemia 39 0.043
278
PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 39 0.043
279
c HYP510 Hyperekplexia 2 37 0.043
280
DGL002 D-Glyceric Aciduria 33 0.043
281
c DNT047 Dentinogenesis Imperfecta Type 2 33 0.043
282
CL1007 Col1a1/2 Osteogenesis Imperfecta 29 0.043
283
CHL079 Children's Interstitial Lung Disease 27 0.043
284
c SYS001 Systemic Lupus Erythematosus 86 0.037
285
P GST053 Gastric Cancer 83 0.037
286
P RTT002 Rett Syndrome 80 0.037
287
P PRK057 Parkinson Disease, Late-Onset 76 0.037
288
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.037
289
LPT014 Leptin Deficiency or Dysfunction 73 0.037
290
P RTN024 Retinoblastoma 72 0.037
291
P MYC007 Myocardial Infarction 70 0.037
292
DWN001 Down Syndrome 70 0.037
293
RCK004 Rickets 69 0.037
294
P HPT021 Hepatitis 67 0.037
295
THY111 Thyroid Carcinoma, Familial Medullary 67 0.037
296
AND002 Androgen Insensitivity Syndrome 66 0.037
297
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.037
298
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 66 0.037
299
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.037
300
P HYD006 Hydrocephalus 65 0.037
301
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 65 0.037
303
P TRN020 Turner Syndrome 65 0.037
304
P DYS154 Dystonia 65 0.037
305
PRP083 Porphyria, Acute Intermittent 63 0.037
306
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.037
307
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 0.037
308
P HYP750 Hypertriglyceridemia, Familial 61 0.037
309
P SCL018 Scoliosis 60 0.037
310
P BTH005 Bethlem Myopathy 1 60 0.037
311
P SLP005 Sleep Disorder 59 0.037
312
P CYS018 Cystitis 59 0.037
313
ANT024 Anthrax Disease 58 0.037
314
CMP010 Complex Regional Pain Syndrome 58 0.037
315
P DST002 Distal Arthrogryposis 58 0.037
316
P MCR010 Microcephaly 58 0.037
317
P BCL017 B-Cell Lymphoma 58 0.037
318
RBS001 Rabies 58 0.037
319
BLR008 Bilirubin Metabolic Disorder 57 0.037
320
P EXN002 Exanthem 57 0.037
321
P PRN023 Prion Disease 57 0.037
322
P PRP019 Peripheral Nervous System Disease 57 0.037
323
ERY051 Erythroleukemia, Familial 56 0.037
324
c ACT075 Acute Myocardial Infarction 56 0.037
325
P CRD246 Cardiovascular System Disease 56 0.037
326
AGN016 Aging 56 0.037
327
P MYS005 Myositis 56 0.037
328
CHR177 Chromophobe Renal Cell Carcinoma 56 0.037
329
TRD006 Tardive Dyskinesia 55 0.037
330
PLM010 Pulmonary Edema 55 0.037
331
P SBS003 Substance Abuse 54 0.037
332
PRT038 Protein-Energy Malnutrition 54 0.037
333
P HMC002 Homocystinuria 54 0.037
334
P ACH011 Achondrogenesis 53 0.037
335
P RCT021 Rectum Cancer 53 0.037
336
c FML008 Familial Retinoblastoma 53 0.037
337
P INT068 Intestinal Disease 52 0.037
338
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.037
339
CRB150 Cerebral Creatine Deficiency Syndrome 2 52 0.037
340
c ACH041 Achondrogenesis, Type Ii 52 0.037
341
c GLL024 Gallbladder Disease 1 52 0.037
342
CHR073 Choreatic Disease 52 0.037
343
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.037
344
ENC055 Encephalopathy, Ethylmalonic 52 0.037
345
P HMP007 Hemophilia 51 0.037
346
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 51 0.037
347
c VRL010 Viral Hepatitis 51 0.037
348
THY125 Thyroid Gland Medullary Carcinoma 51 0.037
349
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.037
350
c ACT078 Acute Porphyria 49 0.037
351
FDL002 Food Allergy 49 0.037
352
VCC001 Vaccinia 49 0.037
353
P SDR003 Sideroblastic Anemia 49 0.037
354
KRT002 Keratomalacia 48 0.037
355
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.037
356
DGN001 Degenerative Disc Disease 48 0.037
357
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.037
358
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.037
359
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.037
360
CNT019 Central Neurocytoma 46 0.037
361
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 46 0.037
362
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.037
363
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.037
364
c ERL020 Early-Onset Schizophrenia 44 0.037
365
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.037
366
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.037
367
CRB090 Cerebral Hypoxia 43 0.037
368
c PCH010 Pachyonychia Congenita 3 43 0.037
369
MLY001 Molybdenum Cofactor Deficiency 42 0.037
370
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.037
371
MRP001 Morphine Dependence 41 0.037
372
AMN002 Amino Acid Metabolic Disorder 40 0.037
373
ALL014 Allergic Encephalomyelitis 39 0.037
374
MNN017 Mononeuropathy 39 0.037
375
c MLT119 Multiple Mitochondrial Dysfunctions Syndrome 3 39 0.037
376
c CHR682 Chronic Bilirubin Encephalopathy 38 0.037
377
HYP001 Hypochromic Microcytic Anemia 38 0.037
378
SRC015 Sarcosinemia 38 0.037
379
AMN006 Aminoaciduria 38 0.037
380
HYP041 Hypochondrogenesis 37 0.037
381
PLC006 Placental Choriocarcinoma 36 0.037
382
PYR009 Pyridoxine Deficiency Anemia 34 0.037
383
c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 34 0.037
384
c PRG106 Progressive Muscular Dystrophy 33 0.037
385
MDM001 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 33 0.037
386
ERY069 Erythrokeratoderma ''en Cocardes'' 30 0.037
387
BNG077 Benign Idiopathic Neonatal Seizures 26 0.037
388
MTH071 Methane Production 26 0.037
389
NRM022 Neurometabolic Disease 25 0.037
390
CNG506 Congenital Amyoplasia 25 0.037
391
P ALZ034 Alzheimer Disease 88 0.030
392
c LKM061 Leukemia, Acute Myeloid 83 0.030
393
P ATX030 Ataxia-Telangiectasia 83 0.030
394
P GLM040 Glioma Susceptibility 1 81 0.030
395
STR067 Stroke, Ischemic 80 0.030
396
PFF001 Pfeiffer Syndrome 79 0.030
397
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.030
398
P RTN008 Retinitis Pigmentosa 77 0.030
399
P MDL005 Medulloblastoma 77 0.030
400
P HRT032 Heart Disease 75 0.030
401
MRF001 Marfan Syndrome 75 0.030
402
c MNN043 Meningioma, Familial 74 0.030
403
CRH001 Crohn's Disease 74 0.030
404
BRN028 Brain Cancer 73 0.030
405
SVR004 Severe Combined Immunodeficiency 73 0.030
406
c SPN225 Spondyloarthropathy 1 73 0.030
407
P OST002 Osteoporosis 73 0.030
408
P HYP724 Hyperlipoproteinemia, Type Iii 72 0.030
409
P MLT020 Multiple Sclerosis 72 0.030
410
P PHC003 Pheochromocytoma 71 0.030
411
PRP027 Peripheral Vascular Disease 71 0.030
412
MLT157 Multiple System Atrophy 1 70 0.030
413
c HPT073 Hepatitis C Virus 70 0.030
414
CNG034 Congestive Heart Failure 70 0.030
415
c MGR028 Migraine with or Without Aura 1 69 0.030
416
ADL002 Adult Syndrome 69 0.030
417
CRB039 Cerebrovascular Disease 69 0.030
418
P MPL001 Maple Syrup Urine Disease 69 0.030
419
ART016 Aortic Aneurysm 68 0.030
420
EWN003 Ewing Sarcoma 68 0.030
421
P MYC084 Mycobacterium Tuberculosis 1 68 0.030
422
P LYM118 Lymphoma 68 0.030
423
P MYS003 Myasthenia Gravis 68 0.030
424
P PNM007 Pneumonia 68 0.030
425
KRT019 Keratitis, Hereditary 67 0.030
426
CHL065 Cholangiocarcinoma 67 0.030
427
P ANG001 Angelman Syndrome 67 0.030
428
P LKM002 Leukemia 66 0.030
429
MNT001 Mantle Cell Lymphoma 66 0.030
430
c CHR684 Chronic Kidney Disease 66 0.030
431
P MCR115 Microvascular Complications of Diabetes 5 66 0.030
432
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.030
433
P HYP098 Hypereosinophilic Syndrome 66 0.030
434
ANG054 Angina Pectoris 66 0.030
435
P MNN013 Meningitis 65 0.030
436
P HRP006 Herpes Simplex 65 0.030
437
GST092 Gastroesophageal Reflux 65 0.030
438
BRR014 Barrett Esophagus 64 0.030
439
TBC004 Tobacco Addiction 64 0.030
440
P SPN046 Spinal Muscular Atrophy 64 0.030
441
c MLN065 Melanocytic Nevus Syndrome, Congenital 63 0.030
442
P CRN018 Coronary Artery Anomaly 63 0.030
443
P ADL010 Adult Respiratory Distress Syndrome 63 0.030
444
P NTR004 Neutropenia 63 0.030
445
P RHB003 Rhabdomyosarcoma 62 0.030
446
P ERL057 Early Infantile Epileptic Encephalopathy 62 0.030
447
LSC001 Lesch-Nyhan Syndrome 62 0.030
448
P PSR002 Psoriasis 62 0.030
449
MNN042 Meningioma, Radiation-Induced 62 0.030
450
P BLD124 Bleeding Disorder, Platelet-Type, 11 61 0.030
451
P ENC004 Encephalitis 61 0.030
452
c PNS012 Paine Syndrome 61 0.030
453
VRL011 Viral Infectious Disease 61 0.030
454
P PNC044 Pancreatitis 61 0.030
455
ATM095 Autoimmune Disease 61 0.030
456
P NRM001 Neuromyelitis Optica 60 0.030
457
RCT015 Reactive Arthritis 60 0.030
458
P MYL006 Myeloid Leukemia 60 0.030
459
RTN017 Retinal Detachment 60 0.030
460
CYS010 Cystinosis 60 0.030
461
SQM006 Squamous Cell Carcinoma 60 0.030
462
WST001 West Syndrome 60 0.030
463
P THL005 Thalassemia 60 0.030
464
c HPT016 Hepatitis B 59 0.030
465
P BND020 Bone Disease 59 0.030
466
LKN001 Leukoencephalopathy with Vanishing White Matter 59 0.030
467
HLC007 Helicobacter Pylori Infection 59 0.030
468
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.030
469
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 58 0.030
470
P AXN002 Axenfeld-Rieger Syndrome 58 0.030
471
PST028 Post-Traumatic Stress Disorder 58 0.030
472
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 0.030
473
END030 End Stage Renal Failure 58 0.030
474
CNT047 Contact Dermatitis 57 0.030
475
EMB004 Embryonal Carcinoma 57 0.030
476
P DNG005 Dengue Virus 57 0.030
477
ARG007 Argininemia 57 0.030
478
P HDC001 Headache 57 0.030
479
PLM031 Poliomyelitis 57 0.030
480
P GLM007 Glomerulonephritis 57 0.030
481
c ADL017 Adult T-Cell Leukemia 57 0.030
482
c LKM060 Leukemia, Acute Lymphoblastic 3 56 0.030
483
P ULL002 Ullrich Congenital Muscular Dystrophy 1 56 0.030
484
P OPT009 Optic Neuritis 56 0.030
485
HPT022 Hepatoblastoma 56 0.030
486
ALL006 Allergic Asthma 56 0.030
487
P GST044 Gastritis 55 0.030
488
HMN014 Human Immunodeficiency Virus Infectious Disease 55 0.030
489
c FML035 Familial Hyperlipidemia 55 0.030
490
HYP005 Hypokalemia 55 0.030
491
ZLL002 Zollinger-Ellison Syndrome 55 0.030
492
ALL010 Allergic Contact Dermatitis 55 0.030
493
P HYP076 Hyperthyroidism 55 0.030
494
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.030
495
AND020 Androgen Insensitivity, Partial 55 0.030
496
P FTL001 Fetal Alcohol Syndrome 55 0.030
497
P MGL001 Megaloblastic Anemia 55 0.030
498
END040 Endogenous Depression 54 0.030
499
HYP060 Hyperinsulinism 54 0.030
500
FCL014 Focal Epilepsy 54 0.030
501
HMS001 Hemosiderosis 54 0.030
502
c ART144 Arthrogryposis, Distal, Type 1a 54 0.030
503
PRP016 Paraplegia 53 0.030
504
c ACT020 Acute T Cell Leukemia 53 0.030
505
NRT004 Neuritis 53 0.030
506
MST005 Mastitis 53 0.030
507
GST023 Gastric Ulcer 53 0.030
508
CLF001 Cleft Lip 53 0.030
509
GLS018 Glass Syndrome 53 0.030
510
ART140 Arteries, Anomalies of 53 0.030
511
NRT001 Neurotic Disorder 52 0.030
512
SPN008 Spondyloepiphyseal Dysplasia Congenita 52 0.030
513
P SHR001 Short Bowel Syndrome 52 0.030
514
c MCR113 Microvascular Complications of Diabetes 3 52 0.030
515
P PTS002 Ptosis 52 0.030
516
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.030
517
PST011 Pustulosis of Palm and Sole 52 0.030
518
TXC002 Toxic Encephalopathy 52 0.030
519
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 0.030
520
c CTS045 Cutis Laxa, Autosomal Dominant 1 51 0.030
521
HYP014 Hyperuricemia 51 0.030
522
RYS001 Reye Syndrome 51 0.030
523
CYS036 Cystinosis, Nephropathic 51 0.030
524
URC002 Urea Cycle Disorder 51 0.030
525
VSC006 Vascular Cancer 51 0.030
526
MYL001 Myelitis 51 0.030
527
MYL020 Myelomeningocele 51 0.030
528
HYP081 Hypolipoproteinemia 50 0.030
529
P FNC004 Fanconi Syndrome 50 0.030
530
LNG031 Lung Benign Neoplasm 50 0.030
531
LMY002 Leiomyoma 50 0.030
532
INT079 Intrahepatic Cholangiocarcinoma 50 0.030
533
P OVR082 Overgrowth Syndrome 50 0.030
534
INP001 Inappropriate Adh Syndrome 49 0.030
535
PLC008 Placenta Disease 49 0.030
536
BNR002 Bone Resorption Disease 48 0.030
537
VTM002 Vitamin B12 Deficiency 48 0.030
538
P OBS001 Obstructive Jaundice 48 0.030
539
c HYP794 Hyperoxaluria, Primary, Type I 48 0.030
540
MLK006 Milk Allergy 48 0.030
541
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.030
542
c NMN014 Niemann-Pick Disease, Type C2 48 0.030
543
ACT084 Acute Stress Disorder 48 0.030
544
c HMN021 Human T-Cell Leukemia Virus Type 1 48 0.030
546
c MCR120 Microvascular Complications of Diabetes 7 47 0.030
547
ATN005 Autonomic Dysfunction 47 0.030
548
SPN021 Spinal Meningioma 47 0.030
549
HST006 Histidinemia 47 0.030
550
MCR018 Microcytic Anemia 47 0.030
551
c PRK092 Parkinson Disease 6, Autosomal Recessive Early-Onset 47 0.030
552
RTN023 Retinitis 46 0.030
553
ADR040 Adrenal Gland Pheochromocytoma 46 0.030
554
ANR004 Anuria 46 0.030
555
PRL019 Prolidase Deficiency 46 0.030
556
HDN002 Head Injury 45 0.030
557
GST030 Gastrinoma 45 0.030
558
c MLG068 Malignant Glioma 45 0.030
559
CYS019 Cystathioninuria 45 0.030
560
RMS001 Rem Sleep Behavior Disorder 44 0.030
561
P SMK004 Smoking As a Quantitative Trait Locus 3 44 0.030
562
GNG003 Gingival Recession 44 0.030
563
c PRM038 Primary Agammaglobulinemia 43 0.030
564
ORL015 Oral Squamous Cell Carcinoma 43 0.030
565
GRW007 Growth Hormone Deficiency 43 0.030
566
NRR001 Neuroretinitis 43 0.030
567
ORG002 Organic Acidemia 43 0.030
568
P STR092 Striatal Degeneration, Autosomal Dominant 2 43 0.030
569
LWC001 Low Compliance Bladder 42 0.030
570
P CLL015 Collagen Disease 42 0.030
571
c MLT068 Multiple Mitochondrial Dysfunctions Syndrome 1 42 0.030
572
PST053 Postherpetic Neuralgia 42 0.030
573
MTH074 Methionine Adenosyltransferase I/iii Deficiency 42 0.030
574
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 41 0.030
575
CLF056 Cleft Lip with or Without Cleft Palate 41 0.030
576
GST020 Gastric Antral Vascular Ectasia 41 0.030
577
c MCR130 Microvascular Complications of Diabetes 6 41 0.030
578
c MCR133 Microvascular Complications of Diabetes 4 41 0.030
579
P RRH023 Rare Hereditary Hemochromatosis 41 0.030
580
c EPS039 Episodic Pain Syndrome, Familial, 1 40 0.030
582
DBT007 Diabetic Cataract 39 0.030
583
ADP007 Adie Pupil 39 0.030
584
TRP004 Tropical Sprue 39 0.030
585
c CTS041 Cutis Laxa, Autosomal Dominant 3 38 0.030
586
SCR011 Scrapie 38 0.030
587
HYP141 Hyperphenylalaninemia 38 0.030
588
P MLT027 Multiple Mitochondrial Dysfunctions Syndrome 38 0.030
589
SCR001 Secretory Meningioma 37 0.030
590
CLC008 Colchicine Resistance 37 0.030
591
PHS022 Phosphoserine Phosphatase Deficiency 37 0.030
592
HPT082 Hepatic Adenomas, Familial 37 0.030
593
ACY011 Acyl-Coa Dehydrogenase Deficiency 37 0.030
594
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.030
595
P LRG012 Large Congenital Melanocytic Nevus 36 0.030
596
CRB009 Cerebritis 36 0.030
598
c HYP519 Hyperekplexia 3 35 0.030
599
ALR002 Al-Raqad Syndrome 34 0.030
600
c XLN231 X-Linked Alport Syndrome 33 0.030
601
HND015 Hand Skill, Relative 33 0.030
602
MLC004 Mulchandani-Bhoj-Conlin Syndrome 32 0.030
603
c HYP597 Hyperprolinemia, Type Ii 31 0.030
604
EXT064 Extraoral Halitosis Due to Methanethiol Oxidase Deficiency 31 0.030
605
HNM002 Hinman Syndrome 29 0.030
606
RRD056 Rare Disease in Surgical Orthopedic 28 0.030
607
DMT001 Dimethylglycine Dehydrogenase Deficiency 27 0.030
608
MST020 Mast Cell Activation Syndrome 27 0.030
609
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.030
610
URT049 Urate Oxidase, Pseudogene 25 0.030
611
CHL150 Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter 24 0.030
612
c NLD015 Nail Disorder, Nonsyndromic Congenital, 8 23 0.030
613
HST007 Histidine Metabolism Disease 22 0.030
614
SPN092 Spinal Shock 19 0.030
615
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.030
616
c SPR097 Sporadic Hyperekplexia 12 0.030
617
JMC001 Jamaican Vomiting Sickness 12 0.030
618
CYS043 Cysteine Peptiduria 7 0.030
619
MYL069 Myeloma, Multiple 85 0.021
620
SQM013 Squamous Cell Carcinoma, Head and Neck 80 0.021
621
MLR004 Malaria 80 0.021
622
c LKM071 Leukemia, Chronic Lymphocytic 79 0.021
623
P BLD134 Bladder Cancer 78 0.021
624
IMM167 Immune Deficiency Disease 78 0.021
625
PHN003 Phenylketonuria 75 0.021
626
ADR007 Adrenoleukodystrophy 74 0.021
627
c HMC039 Hemochromatosis, Type 1 74 0.021
628
RNL065 Renal Cell Carcinoma, Papillary, 1 73 0.021
629
ULC004 Ulcerative Colitis 73 0.021
630
c BTT014 Beta-Thalassemia 72 0.021
631
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.021
632
MSC157 Muscular Dystrophy, Duchenne Type 71 0.021
633
P GRF003 Graft-Versus-Host Disease 71 0.021
634
c LKM063 Leukemia, Chronic Myeloid 71 0.021
635
OTT002 Otitis Media 71 0.021
636
ACR007 Acromegaly 71 0.021
637
WLS001 Wilson Disease 70 0.021
638
ADN011 Adenoid Cystic Carcinoma 70 0.021
639
P AMY004 Amyloidosis 70 0.021
640
P TBR001 Tuberous Sclerosis 70 0.021
641
MYL009 Myelodysplastic Syndrome 70 0.021
642
LYM133 Lymphoma, Hodgkin, Classic 69 0.021
643
P SLP006 Sleep Apnea 69 0.021
644
c BSL007 Basal Cell Carcinoma 68 0.021
645
P TYS001 Tay-Sachs Disease 68 0.021
646
P HLP001 Holoprosencephaly 68 0.021
647
c NMN015 Niemann-Pick Disease, Type C1 68 0.021
648
c CNG411 Congenital Disorder of Glycosylation, Type in 68 0.021
649
P INF038 Influenza 68 0.021
650
P CLC063 Celiac Disease 1 68 0.021
651
P THR014 Thrombocytopenia 68 0.021
652
CRB037 Cerebral Palsy 68 0.021
653
PCK003 Pick Disease of Brain 68 0.021
654
P KBK002 Kabuki Syndrome 1 67 0.021
655
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 67 0.021
656
P DBT085 Diabetes Mellitus, Insulin-Dependent 67 0.021
657
c MCP052 Mucopolysaccharidosis, Type Vi 67 0.021
658
PNC129 Pancreatic Adenocarcinoma 67 0.021
659
BRK010 Burkitt Lymphoma 67 0.021
660
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 67 0.021
661
P PRP003 Porphyria Cutanea Tarda 67 0.021
662
MLD001 Melioidosis 67 0.021
663
c TYR012 Tyrosinemia, Type I 67 0.021
664
SVR097 Severe Cutaneous Adverse Reaction 67 0.021
665
FML089 Familial Thoracic Aortic Aneurysm and Dissection 66 0.021
666
P DRM053 Dermatitis, Atopic 66 0.021
667
P FLL037 Follicular Lymphoma 66 0.021
668
FBR011 Fibrodysplasia Ossificans Progressiva 66 0.021
669
ACH004 Achondroplasia 66 0.021
670
P HYP061 Hypertrophic Cardiomyopathy 66 0.021
671
FCT007 Factor Vii Deficiency 66 0.021
672
CHR103 Charge Syndrome 66 0.021
673
c MCR129 Microvascular Complications of Diabetes 1 66 0.021
674
ART001 Arterial Tortuosity Syndrome 66 0.021
675
MYX005 Myxoid Liposarcoma 66 0.021
676
CHG001 Chagas Disease 66 0.021
677
NPH091 Nephrolithiasis, Calcium Oxalate 66 0.021
678
P LNG028 Long Qt Syndrome 65 0.021
679
P AGM001 Agammaglobulinemia 65 0.021
680
P ACR001 Aicardi-Goutieres Syndrome 65 0.021
681
P LPS002 Liposarcoma 65 0.021
682
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.021
683
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65 0.021
684
MYL031 Myeloproliferative Neoplasm 65 0.021
685
PRT036 Peritonitis 65 0.021
686
P THY023 Thymoma 65 0.021
687
c WLM013 Wilms Tumor 1 65 0.021
688
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.021
689
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 64 0.021
690
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64 0.021
691
P MCP040 Mucopolysaccharidosis-Plus Syndrome 64 0.021
692
c MNN047 Mannosidosis, Alpha B, Lysosomal 64 0.021
693
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 0.021
694
NRF007 Neurofibroma 64 0.021
695
CLR108 Colorectal Adenoma 64 0.021
696
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 64 0.021
697
MGK001 Megakaryocytic Leukemia 64 0.021
698
RHB001 Rhabdoid Cancer 63 0.021
699
IRR002 Irritable Bowel Syndrome 63 0.021
700
MSC007 Muscle Hypertrophy 63 0.021
701
END041 Endometrial Adenocarcinoma 63 0.021
702
P THR117 Three M Syndrome 1 63 0.021
703
P CRN015 Cornelia De Lange Syndrome 63 0.021
704
TYP007 Typhoid Fever 63 0.021
705
KRN002 Kearns-Sayre Syndrome 63 0.021
706
c ACT068 Acute Cystitis 63 0.021
707
P END044 Endometriosis 62 0.021
708
BRS099 Breast Ductal Carcinoma 62 0.021
709
P HML002 Hemolytic Anemia 62 0.021
710
c NMN013 Niemann-Pick Disease, Type a 62 0.021
711
c FNC043 Fanconi Anemia, Complementation Group E 62 0.021
712
P ART067 Aortic Aneurysm, Familial Thoracic 1 62 0.021
713
c WLM018 Wilms Tumor 5 62 0.021
714
c ALP101 Alpha-Thalassemia 62 0.021
715
TRN015 Transient Cerebral Ischemia 62 0.021
716
P PLZ001 Pelizaeus-Merzbacher Disease 62 0.021
717
P VSC011 Vasculitis 62 0.021
718
P ESP024 Esophagitis 62 0.021
719
PYR022 Pyruvate Dehydrogenase E1-Alpha Deficiency 62 0.021
720
HYD038 Hydrops Fetalis, Nonimmune 61 0.021
721
CHR066 Chronic Fatigue Syndrome 61 0.021
722
P HMN010 Hemangioma 61 0.021
723
P INT143 Interstitial Cystitis 61 0.021
724
ALV005 Alveolar Soft Part Sarcoma 61 0.021
725
P LPS004 Lupus Erythematosus 61 0.021
726
P KDN017 Kidney Cancer 61 0.021
727
LYM012 Lymphoplasmacytic Lymphoma 61 0.021
728
P SNS001 Sensorineural Hearing Loss 61 0.021
729
ERL001 Early Myoclonic Encephalopathy 61 0.021
730
SPN404 Spinal and Bulbar Muscular Atrophy, X-Linked 1 61 0.021
731
NRL005 Neurilemmoma 60 0.021
732
BTN003 Biotinidase Deficiency 60 0.021
733
P BNG030 Benign Ependymoma 60 0.021
734
CRD223 Cardiac Arrhythmia 60 0.021
735
MCR013 Microphthalmia 60 0.021
736
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 60 0.021
737
DPH001 Diphtheria 60 0.021
738
ACQ007 Acquired Immunodeficiency Syndrome 60 0.021
739
TRG002 Trigeminal Neuralgia 60 0.021
740
P NMN002 Niemann-Pick Disease 60 0.021
741
ORL011 Oral Cancer 60 0.021
742
P HYP035 Hypophosphatasia 60 0.021
743
HRP004 Herpes Zoster 60 0.021
744
DNG002 Dengue Hemorrhagic Fever 60 0.021
745
P GLL022 Guillain-Barre Syndrome 59 0.021
746
INT066 Interstitial Lung Disease 59 0.021
747
c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 59 0.021
748
P BRN022 Bronchiectasis 59 0.021
749
c ACT027 Acute Pancreatitis 59 0.021
750
P LKD001 Leukodystrophy 59 0.021
751
c DNG003 Dengue Disease 59 0.021
752
GRD007 Grade Iii Astrocytoma 59 0.021
753
P SYP003 Syphilis 59 0.021
754
c ALB021 Albinism, Oculocutaneous, Type Ii 59 0.021
755
BRN002 Bronchiolitis 59 0.021
756
HYP052 Hyperkalemic Periodic Paralysis 59 0.021
757
SPN027 Spinal Stenosis 59 0.021
758
P BRS044 Breast Adenocarcinoma 59 0.021
759
P RBL001 Rubella 58 0.021
760
ANR040 Aneurysm 58 0.021
761
ADN018 Adenoma 58 0.021
762
SCC001 Succinic Semialdehyde Dehydrogenase Deficiency 58 0.021
763
PMS001 Poems Syndrome 58 0.021
764
LNG108 Langerhans Cell Histiocytosis 58 0.021
765
c PSD114 Pseudohypoaldosteronism, Type I, Autosomal Recessive 58 0.021
766
THY122 Thyroid Gland Cancer 58 0.021
767
c ACT073 Acute Leukemia 58 0.021
768
c NMN016 Niemann-Pick Disease, Type B 58 0.021
769
P TYR004 Tyrosinemia 58 0.021
770
APP015 Apparent Mineralocorticoid Excess 58 0.021
771
NWB001 Newborn Respiratory Distress Syndrome 58 0.021
772
GLB001 Gilbert Syndrome 57 0.021
773
ERY003 Erythema Multiforme 57 0.021
774
RNL024 Renal Glucosuria 57 0.021
775
LYM027 Lymphopenia 57 0.021
776
P INF032 Infertility 57 0.021
777
DSS009 Disseminated Intravascular Coagulation 57 0.021
778
P PLY041 Polymyositis 57 0.021
779
OBS525 Obsolete: Squamous Cell Carcinoma of Head and Neck 57 0.021
780
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 57 0.021
781
RSP019 Respiratory Distress Syndrome in Premature Infants 57 0.021
782
P SHR029 Short Syndrome 57 0.021
783
APH002 Aphasia 57 0.021
784
LNN001 Lennox-Gastaut Syndrome 57 0.021
785
c CHR417 Chronic Graft Versus Host Disease 56 0.021
786
P EPD003 Epidermolysis Bullosa Simplex 56 0.021
787
GYR004 Gyrate Atrophy of Choroid and Retina 56 0.021
788
P PYL005 Pyelonephritis 56 0.021
789
PRS047 Prostatitis 56 0.021
790
P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 56 0.021
791
P CHN012 Chondrosarcoma 56 0.021
792
TRN018 Transitional Cell Carcinoma 56 0.021
793
PLS011 Plasmacytoma 56 0.021
794
SFT003 Soft Tissue Sarcoma 56 0.021
795
LMY014 Leiomyoma, Uterine 56 0.021
796
c CRN139 Cornelia De Lange Syndrome 1 56 0.021
797
AVN001 Avian Influenza 56 0.021
798
P PLY011 Polycystic Ovary Syndrome 56 0.021
799
P MTC069 Mitochondrial Disorders 56 0.021
800
P ERY053 Erythrokeratodermia Variabilis Et Progressiva 1 56 0.021
801
P PLY019 Polyneuropathy 56 0.021
802
RHM027 Rheumatic Disease 56 0.021
803
GST050 Gastrointestinal System Disease 56 0.021
804
BRN012 Bronchiolitis Obliterans 56 0.021
805
DFF005 Diffuse Large B-Cell Lymphoma 56 0.021
806
ALP077 Alpha-Methylacetoacetic Aciduria 56 0.021
807
P PLM034 Pulmonary Emphysema 56 0.021
808
FCT003 Factor X Deficiency 55 0.021
809
c SVR001 Severe Acute Respiratory Syndrome 55 0.021
810
ANN002 Anencephaly 55 0.021
811
GRN034 Grange Syndrome 55 0.021
812
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 55 0.021
813
c BCT007 Bacterial Meningitis 55 0.021
814
c SCN036 Secondary Progressive Multiple Sclerosis 55 0.021
815
LMB062 Limb Ischemia 55 0.021
816
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.021
817
NRN004 Neuroendocrine Tumor 55 0.021
818
P MYP006 Myopia 55 0.021
819
TNG003 Tongue Cancer 55 0.021
820
DBT010 Diabetic Neuropathy 55 0.021
821
WST005 West Nile Virus 55 0.021
822
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 55 0.021
823
P PMP001 Pemphigus 55 0.021
824
ISL014 Isolated Growth Hormone Deficiency, Type Ia 55 0.021
825
PRN019 Perinatal Necrotizing Enterocolitis 54 0.021
827
P LCH002 Lichen Planus 54 0.021
828
GLS001 Gliosarcoma 54 0.021
829
PPL022 Papilloma 54 0.021
830
P RST001 Restless Legs Syndrome 54 0.021
831
P ICH004 Ichthyosis 54 0.021
832
P LRY044 Larynx Cancer 54 0.021
833
c MLG077 Malignant Peripheral Nerve Sheath Tumor 54 0.021
834
c OTS014 Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant 54 0.021
835
ORT008 Orotic Aciduria 54 0.021
836
c THY107 Thymoma, Familial 54 0.021
837
AVD001 Avoidant Personality Disorder 54 0.021
838
CLL002 Collecting Duct Carcinoma 54 0.021
839
KNS001 Kniest Dysplasia 53 0.021
840
c LKM070 Leukemia, Acute Monocytic 53 0.021
841
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 53 0.021
842
MYM001 Myoma 53 0.021
843
HYP706 Hypermobile Ehlers-Danlos Syndrome 53 0.021
844
BRN038 Bronchial Disease 53 0.021
845
CLB010 Coloboma of Macula 53 0.021
846
c SPN393 Spinal Muscular Atrophy, Type I 53 0.021
847
P NLX004 Neu-Laxova Syndrome 1 53 0.021
848
BRD004 Borderline Personality Disorder 53 0.021
849
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 53 0.021
850
P HYP083 Hypopituitarism 53 0.021
851
PRP036 Peripheral T-Cell Lymphoma 53 0.021
852
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 0.021
853
P OVR049 Ovarian Disease 53 0.021
854
P HST010 Histiocytosis 53 0.021
855
P THY032 Thyroiditis 53 0.021
856
P PNC025 Panic Disorder 53 0.021
857
CLL010 Cellular Ependymoma 53 0.021
858
PRP080 Peripheral Artery Disease 53 0.021
859
GLM004 Gliomatosis Cerebri 52 0.021
860
ACR041 Acromelic Frontonasal Dysostosis 52 0.021
861
CMB003 Combined T Cell and B Cell Immunodeficiency 52 0.021
862
ABL002 Ablepharon-Macrostomia Syndrome 52 0.021
863
P NRD007 Neurodegeneration with Brain Iron Accumulation 52 0.021
864
PRN011 Pernicious Anemia 52 0.021
865
P INS002 in Situ Carcinoma 52 0.021
866
GNT002 Giant Cell Glioblastoma 52 0.021
867
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 0.021
868
c PSR017 Psoriasis 2 52 0.021
869
P OLV001 Olivopontocerebellar Atrophy 52 0.021
870
ISL003 Isolated Growth Hormone Deficiency 52 0.021
871
LYS002 Lysosomal Storage Disease 52 0.021
872
INV006 Inverted Papilloma 52 0.021
873
PTH003 Pathologic Nystagmus 51 0.021
874
c ACR116 Aicardi-Goutieres Syndrome 1 51 0.021
875
c ACT135 Acute Graft Versus Host Disease 51 0.021
876
P NRC002 Narcolepsy 51 0.021
877
PLS009 Plasma Cell Neoplasm 51 0.021
878
TLN003 Telangiectasis 51 0.021
879
ILS001 Ileus 51 0.021
880
PPT001 Peptic Esophagitis 51 0.021
881
RSP002 Respiratory Syncytial Virus Infectious Disease 51 0.021
882
THY030 Thyroid Gland Disease 51 0.021
883
SCB001 Scabies 51 0.021
884
c ALM001 Al Amyloidosis 50 0.021
885
3MT001 3-Methylcrotonyl-Coa Carboxylase Deficiency 50 0.021
886
ENT011 Enterocolitis 50 0.021
887
SPS003 Spastic Diplegia 50 0.021
888
FBR008 Fibrillary Astrocytoma 50 0.021
889
P MMB011 Membranous Nephropathy 50 0.021
890
CLR109 Colorectal Adenocarcinoma 50 0.021
891
P MGR003 Migraine with Aura 50 0.021
892
c INF145 Infantile Liver Failure Syndrome 1 50 0.021
893
CHN065 Choanal Atresia, Posterior 50 0.021
894
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 0.021
895
P DDN001 Duodenal Ulcer 50 0.021
896
c AMY009 Amyloidosis Aa 50 0.021
897
c HMC035 Hemochromatosis, Type 4 50 0.021
898
MCR004 Macroglobulinemia 50 0.021
899
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 0.021
900
RSP006 Respiratory System Disease 50 0.021
901
MCP006 Mucoepidermoid Carcinoma 50 0.021
902
NTR046 Neutrophil Migration 50 0.021
903
BLR001 Biliary Atresia 50 0.021
904
P OMP004 Omphalocele 50 0.021
905
TMT002 Temtamy Preaxial Brachydactyly Syndrome 50 0.021
906
P CTN015 Cutaneous T Cell Lymphoma 49 0.021
907
HYP017 Hypophosphatemia 49 0.021
908
EPL131 Epilepsy, Pyridoxine-Dependent 49 0.021
909
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.021
910
P MYT002 Myotonic Dystrophy 49 0.021
911
c PSR023 Psoriasis 1 49 0.021
912
c BPL002 Bipolar I Disorder 49 0.021
913
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.021
914
OLF005 Olfactory Neuroblastoma 49 0.021
915
c FLL041 Follicular Lymphoma 1 49 0.021
916
RTC005 Reticulosarcoma 49 0.021
917
GYN001 Gynecomastia 49 0.021
918
MNN009 Meningoencephalitis 49 0.021
919
NRL018 Neural Tube Defects, Folate-Sensitive 49 0.021
920
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 49 0.021
921
CLN045 Colonic Benign Neoplasm 49 0.021
922
CRP032 Corpus Callosum, Agenesis of 49 0.021
923
SPN019 Spondylolisthesis 49 0.021
924
ENT004 Enthesopathy 48 0.021
925
RDC002 Radiculopathy 48 0.021
926
BCT004 Bacteriuria 48 0.021
927
c OST119 Osteogenesis Imperfecta, Type Vii 48 0.021
928
P BNG026 Benign Neonatal Seizures 48 0.021
929
RFR010 Refractory Anemia 48 0.021
930
c LKM056 Leukemia, Chronic Lymphocytic 2 48 0.021
931
c OST132 Osteogenesis Imperfecta, Type Vi 48 0.021
932
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.021
933
CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 48 0.021
934
HLC001 Holocarboxylase Synthetase Deficiency 48 0.021
935
P MRC003 Mercury Poisoning 48 0.021
936
c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 48 0.021
937
P MGR001 Migraine Without Aura 48 0.021
938
CRC014 Carcinoid Tumors, Intestinal 48 0.021
939
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 48 0.021
940
LPD004 Lipoid Nephrosis 47 0.021
941
GRM005 Germ Cell Cancer 47 0.021
942
CRN027 Corneal Neovascularization 47 0.021
943
c OTS013 Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive 47 0.021
944
NRN001 Neuroendocrine Carcinoma 47 0.021
945
MCR209 Microcephaly, Epilepsy, and Diabetes Syndrome 47 0.021
946
c HYD064 Hydrocephalus, Congenital, 1 47 0.021
947
UMB002 Umbilical Hernia 47 0.021
948
c PRM093 Premature Ovarian Failure 7 47 0.021
949
CYC008 Cyclic Vomiting Syndrome 47 0.021
950
c LRG017 Large Intestine Cancer 47 0.021
951
CRN017 Coronary Thrombosis 47 0.021
952
HYP082 Hypopharynx Cancer 47 0.021
953
RNL077 Renal Fibrosis 47 0.021
954
PLS025 Plasmablastic Lymphoma 47 0.021
955
GLT007 Glutathione Synthetase Deficiency 46 0.021
956
P PLY020 Polyradiculoneuropathy 46 0.021
957
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 46 0.021
958
ACT113 Acute Myeloblastic Leukemia with Maturation 46 0.021
959
OPS006 Opsoclonus-Myoclonus Syndrome 46 0.021
960
MTH021 Methylmalonic Acidemia with Homocystinuria 46 0.021
961
MNC019 Monocarboxylate Transporter 1 Deficiency 46 0.021
962
c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 46 0.021
963
MYC005 Myocardial Stunning 46 0.021
964
MYT030 Myotonia, Potassium-Aggravated 46 0.021
965
PLS016 Plasma Cell Leukemia 46 0.021
966
PRM057 Paramyotonia Congenita of Von Eulenburg 46 0.021
967
P TRN034 Transverse Myelitis 46 0.021
968
P HMR005 Hemorrhoid 46 0.021
969
MCR037 Macroglossia 45 0.021
970
MLT018 Multiple Carboxylase Deficiency 45 0.021
971
c CRD085 Cardiomyopathy, Familial Hypertrophic, 4 45 0.021
972
c CHR647 Charcot-Marie-Tooth Disease, Demyelinating, Type 1c 45 0.021
973
DDF001 Dedifferentiated Liposarcoma 45 0.021
974
CYN002 Cyanosis, Transient Neonatal 45 0.021
975
P EPN001 Ependymoblastoma 45 0.021
976
MXD026 Mixed Glioma 45 0.021
977
OPD001 Opioid Abuse 45 0.021
978
c TRC022 Tricuspid Valve Insufficiency 45 0.021
979
P PSD003 Pseudohypoaldosteronism 45 0.021
980
P BNG032 Benign Mesothelioma 45 0.021
981
c GM2006 Gm2 Gangliosidosis 45 0.021
982
ACT003 Acute Kidney Tubular Necrosis 45 0.021
983
P VTL001 Vitelliform Macular Dystrophy 45 0.021
984
ASP004 Asphyxia Neonatorum 45 0.021
985
P OVR046 Ovarian Cyst 45 0.021
986
KWS001 Kwashiorkor 45 0.021
987
P PLL002 Pellagra 45 0.021
988
OLG001 Oligospermia 45 0.021
989
MYX004 Myxedema 44 0.021
990
NWC001 Newcastle Disease 44 0.021
991
P END084 Endocrine System Disease 44 0.021
992
AGR002 Agoraphobia 44 0.021
993
c ACT042 Acute Pyelonephritis 44 0.021
994
PNC085 Penicillin Allergy 44 0.021
995
TND004 Tendinopathy 44 0.021
996
SBC016 Subacute Delirium 44 0.021
997
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 44 0.021
998
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 44 0.021
999
P BCL004 B-Cell Non-Hodgkin Lymphoma 44 0.021
1000
BCT021 Bacterial Sepsis 44 0.021
1001
PRS042 Prostate Disease 44 0.021
1002
P GNG009 Gangliosidosis 44 0.021
1003
BRN032 Brain Glioma 43 0.021
1004
CRB196 Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome 43 0.021
1005
EHL034 Ehlers-Danlos Syndrome, Hypermobility Type 43 0.021
1006
c TCL001 T-Cell Adult Acute Lymphocytic Leukemia 43 0.021
1007
BNM001 Bone Marrow Cancer 43 0.021
1008
c HYP272 Hypercholesterolemia, Familial, 3 43 0.021
1009
SCT002 Scotoma 43 0.021
1010
c MCL066 Macular Dystrophy, Vitelliform, 2 43 0.021
1011
P HYP769 Hyperlysinemia, Type I 43 0.021
1012
c ATM101 Autoimmune Gastritis 43 0.021
1013
P CLS010 Cluster Headache 43 0.021
1014
P CRD234 Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 43 0.021
1015
c OST124 Osteogenesis Imperfecta, Type V 42 0.021
1016
SQM002 Squamous Cell Papilloma 42 0.021
1017
MCL003 Macular Holes 42 0.021
1018
c CRD079 Cardiomyopathy, Familial Hypertrophic, 9 42 0.021
1019
c GLL037 Guillain-Barre Syndrome, Familial 42 0.021
1020
SNL007 Senile Cataract 42 0.021
1021
MLK003 Melkersson-Rosenthal Syndrome 42 0.021
1022
c RTN058 Retinitis Pigmentosa 3 42 0.021
1023
BCK006 Back Pain 42 0.021
1024
MYF001 Myofibroma 42 0.021
1025
c MLG079 Malignant Pleural Mesothelioma 42 0.021
1026
NRF003 Neurofibrosarcoma 42 0.021
1027
c OST118 Osteogenesis Imperfecta, Type Viii 41 0.021
1028
49X006 49, Xxxxy Syndrome 41 0.021
1029
LMB024 Limbic Encephalitis 41 0.021
1030
WST004 West Nile Encephalitis 41 0.021
1031
SPN050 Spinocerebellar Degeneration 41 0.021
1032
c GLL038 Galloway-Mowat Syndrome 1 41 0.021
1033
P STN012 Sting-Associated Vasculopathy, Infantile-Onset 41 0.021
1034
c MCR112 Microvascular Complications of Diabetes 2 41 0.021
1035
P DMY001 Demyelinating Polyneuropathy 41 0.021
1036
RDN001 Reading Disorder 40 0.021
1037
c OST133 Osteogenesis Imperfecta, Type Xi 40 0.021
1038
EXT006 Extrahepatic Cholestasis 40 0.021
1040
INH001 Inhalation Anthrax 40 0.021
1041
JWD001 Jawad Syndrome 40 0.021
1042
OPS001 Opisthorchiasis 40 0.021
1043
c CRD087 Cardiomyopathy, Familial Hypertrophic, 10 40 0.021
1044
P INT260 Intracranial Berry Aneurysm 40 0.021
1045
c RTN066 Retinitis Pigmentosa 4 40 0.021
1046
c CRD232 Cardiomyopathy, Familial Hypertrophic, 6 40 0.021
1047
INT046 Intestinal Tuberculosis 40 0.021
1048
c PLN017 Peeling Skin Syndrome 1 40 0.021
1049
SPS019 Spastic Paraparesis 40 0.021
1050
CHL045 Choline Deficiency Disease 39 0.021
1051
FLL031 Follicular Adenoma 39 0.021
1052
P SYN057 Syndromic Intellectual Disability 39 0.021
1053
c HYP602 Hyperoxaluria, Primary, Type Ii 39 0.021
1054
BDY001 Body Dysmorphic Disorder 39 0.021
1055
P PRP021 Peripheral Nervous System Neoplasm 39 0.021
1056
SCH011 Schizotypal Personality Disorder 39 0.021
1057
P DYS021 Dysautonomia 39 0.021
1058
ALC005 Alcoholic Pancreatitis 39 0.021
1059
KLB003 Klebsiella Pneumonia 39 0.021
1060
c MLG074 Malignant Mesenchymoma 39 0.021
1061
c EPL026 Epileptic Encephalopathy, Early Infantile, 3 39 0.021
1062
c PSR028 Psoriasis 7 39 0.021
1063
c OST110 Osteogenesis Imperfecta, Type Xv 39 0.021
1064
WLL004 Wallerian Degeneration 39 0.021
1065
CGN005 Cognitive Impairment with or Without Cerebellar Ataxia 39 0.021
1066
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39 0.021
1067
HMR023 Hemorrhagic Cystitis 38 0.021
1068
c PSR032 Psoriasis 11 38 0.021
1069
c PSR018 Psoriasis 13 38 0.021
1070
ARC025 Arachnoid Cysts, Intracranial 38 0.021
1071
ADR022 Adrenomyeloneuropathy 38 0.021
1072
PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 38 0.021
1073
LWG005 Low-Grade Astrocytoma 38 0.021
1074