Search results for Phosphatidylcholines Group A

833 hits were found for Phosphatidylcholines Group A

# Family MCID Name MIFTS Score
1
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 25.224
2
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 23.887
3
P BRS047 Breast Cancer 97 22.928
4
P DBT009 Diabetes Mellitus 67 22.815
5
c TYP009 Type 2 Diabetes Mellitus 92 22.108
6
48X005 48,xyyy 39 19.792
7
MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45 19.073
8
P LNG032 Lung Cancer 98 18.697
9
PLM129 Pulmonary Disease, Chronic Obstructive 74 18.155
10
AGN016 Aging 54 18.044
11
c HYP595 Hypertension, Essential 84 17.865
12
P AST005 Asthma 76 17.804
13
c HYP836 Hypercholesterolemia, Familial, 1 73 17.728
14
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 17.722
15
P LKM002 Leukemia 66 17.547
16
ISC004 Ischemia 61 17.534
17
DPR016 Depression 65 17.401
18
P SCH015 Schizophrenia 74 17.252
19
OST012 Osteoarthritis 77 17.177
20
MNT002 Mental Depression 56 17.063
21
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 16.917
22
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 16.917
23
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 16.867
24
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 16.867
25
P ALZ034 Alzheimer Disease 87 16.835
26
P ART022 Arthritis 70 16.802
27
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 16.747
28
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 16.747
29
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 16.747
30
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 16.747
31
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 16.747
32
P PRS040 Prostate Cancer 95 16.686
33
P HPT021 Hepatitis 68 16.670
34
STR067 Stroke, Ischemic 79 16.572
35
P HRT032 Heart Disease 84 16.458
36
P SZR006 Seizure Disorder 69 16.434
37
DFC004 Deficiency Anemia 74 16.158
38
LPP008 Lipoprotein Quantitative Trait Locus 65 16.153
39
c LKM061 Leukemia, Acute Myeloid 83 15.887
40
P LVR013 Liver Disease 68 15.844
41
CRH001 Crohn's Disease 80 15.787
42
P CLR023 Colorectal Cancer 100 15.785
43
LNG099 Lung Disease 62 15.761
44
c SML038 Small Cell Cancer of the Lung 69 15.596
45
HMN044 Human Immunodeficiency Virus Type 1 76 15.575
46
P NTR004 Neutropenia 62 15.461
47
PNG002 Pain Agnosia 51 15.459
48
P RHM011 Rheumatoid Arthritis 81 15.441
49
ART140 Arteries, Anomalies of 52 15.289
50
P KDN018 Kidney Disease 72 15.209
51
P CRN300 Coronary Heart Disease 1 73 15.191
52
c ATR087 Atrial Standstill 1 74 15.183
53
P MLT020 Multiple Sclerosis 79 15.091
54
NNL005 Non-Alcoholic Fatty Liver Disease 63 15.090
55
P OVR042 Ovarian Cancer 88 15.006
56
TXC005 Toxic Shock Syndrome 62 14.975
57
c CHR684 Chronic Kidney Disease 74 14.957
58
P LYM118 Lymphoma 69 14.913
59
P MYC007 Myocardial Infarction 69 14.888
60
c PRX059 Peroxisome Biogenesis Disorder 1a 56 14.805
61
ULC004 Ulcerative Colitis 74 14.777
62
ANX010 Anxiety 70 14.756
63
P NRB001 Neuroblastoma 66 14.739
64
CLT003 Colitis 63 14.672
65
P LKM062 Leukemia, Acute Lymphoblastic 69 14.649
66
FTT001 Fatty Liver Disease 61 14.496
67
P MYL006 Myeloid Leukemia 60 14.300
68
c ACT075 Acute Myocardial Infarction 55 14.287
69
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 14.223
70
P GST053 Gastric Cancer 82 14.216
71
CYS001 Cystic Fibrosis 77 14.160
72
P RHN004 Rhinitis 57 14.076
73
P EPL164 Epilepsy 70 14.047
74
P MJR001 Major Depressive Disorder 68 13.829
75
c TYP008 Type 1 Diabetes Mellitus 77 13.816
76
DWN001 Down Syndrome 70 13.801
77
P ANR048 Aniridia 1 66 13.751
78
DRM006 Dermatitis 62 13.735
79
c PRX048 Peroxisome Biogenesis Disorder 10a 31 13.702
80
BCK006 Back Pain 43 13.660
81
ALC007 Alcohol Dependence 65 13.589
82
P PNM007 Pneumonia 64 13.518
83
LPD008 Lipid Metabolism Disorder 61 13.501
84
P PRD008 Periodontitis 64 13.500
85
P DMN002 Dementia 65 13.485
86
P NRP001 Neuropathy 59 13.474
87
RPD005 Rapidly Involuting Congenital Hemangioma 48 13.364
88
MYL069 Myeloma, Multiple 77 13.334
89
P INF032 Infertility 60 13.282
90
P PRS038 Personality Disorder 65 13.275
91
CNG034 Congestive Heart Failure 69 13.250
92
c HPT016 Hepatitis B 62 13.221
93
47X002 47,xyy 48 13.114
94
ATH013 Atherosclerosis Susceptibility 63 13.071
95
P HPT023 Hepatocellular Carcinoma 95 13.042
96
INT323 Intraocular Pressure Quantitative Trait Locus 63 12.958
97
c PRX055 Peroxisome Biogenesis Disorder 11a 36 12.878
98
P OST002 Osteoporosis 77 12.874
99
PHR003 Pharyngitis 57 12.868
100
P ATS364 Autism 72 12.730
101
c MGR028 Migraine with or Without Aura 1 64 12.728
102
c HPT003 Hepatitis a 63 12.726
103
P DRR001 Diarrhea 55 12.723
104
P ADL010 Adult Respiratory Distress Syndrome 71 12.683
105
ALL003 Allergic Rhinitis 66 12.642
106
P TRN020 Turner Syndrome 67 12.618
107
RNL114 Renal Cell Carcinoma, Nonpapillary 79 12.567
108
c ATS007 Autism Spectrum Disorder 72 12.470
109
P ALC033 Alcohol Use Disorder 67 12.425
111
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 12.395
112
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 12.395
113
IMM167 Immune Deficiency Disease 77 12.388
114
P PSR002 Psoriasis 63 12.377
115
CRB039 Cerebrovascular Disease 65 12.276
116
P PLM037 Pulmonary Hypertension 69 12.267
117
P INF038 Influenza 68 12.231
118
PST011 Pustulosis of Palm and Sole 52 12.218
119
P VSC007 Vascular Disease 62 12.214
120
P BPL003 Bipolar Disorder 56 12.186
121
P MLN008 Melanoma 75 12.154
122
P ATT013 Attention Deficit-Hyperactivity Disorder 66 12.151
123
c MCR115 Microvascular Complications of Diabetes 5 65 12.140
124
PRT036 Peritonitis 65 12.121
125
P ATR011 Atrial Fibrillation 66 12.109
126
END086 End Stage Renal Disease 54 12.106
127
CRV035 Cervical Cancer 72 12.050
128
P CHR345 Chronic Pain 50 12.045
129
SQM006 Squamous Cell Carcinoma 59 11.962
130
P ADN016 Adenocarcinoma 63 11.955
131
CVD001 Covid-19 58 11.940
132
MYL009 Myelodysplastic Syndrome 67 11.939
133
TRM010 Traumatic Brain Injury 50 11.901
134
c PRC016 Pre-Eclampsia 64 11.895
135
SRC014 Sarcoma 64 11.880
136
PST028 Post-Traumatic Stress Disorder 59 11.878
137
CRB037 Cerebral Palsy 67 11.876
138
ESP021 Esophageal Cancer 84 11.871
139
BRN071 Brain Injury 50 11.865
140
PRT251 Proteinuria, Chronic Benign 58 11.854
141
CYT002 Cytokine Deficiency 43 11.832
142
P DRM053 Dermatitis, Atopic 65 11.785
143
P RSP003 Respiratory Failure 74 11.753
144
P THR014 Thrombocytopenia 66 11.728
145
P PNC044 Pancreatitis 61 11.725
146
ALL029 Allergic Disease 61 11.703
147
c MJR024 Major Affective Disorder 9 40 11.634
148
c MJR022 Major Affective Disorder 8 37 11.634
149
P PNC035 Pancreatic Cancer 86 11.631
150
ETN001 Eating Disorder 59 11.630
151
SPN186 Spinal Cord Injury 61 11.566
152
P HDC001 Headache 56 11.562
153
P BLD134 Bladder Cancer 79 11.493
154
P CTR002 Cataract 59 11.464
155
LVR012 Liver Cirrhosis 62 11.433
156
P INF037 Inflammatory Bowel Disease 53 11.432
157
P BCL017 B-Cell Lymphoma 57 11.428
158
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 11.407
159
SPN035 Spindle Cell Sarcoma 51 11.368
160
c SYS001 Systemic Lupus Erythematosus 86 11.325
161
END057 Endometrial Cancer 71 11.316
162
P PRK057 Parkinson Disease, Late-Onset 79 11.305
163
c HPT001 Hepatitis C 61 11.227
164
P MNN013 Meningitis 65 11.197
165
P CNR004 Cone-Rod Dystrophy 2 75 11.124
166
CNS004 Constipation 56 11.060
167
ACQ007 Acquired Immunodeficiency Syndrome 58 11.031
168
MLD018 Mild Cognitive Impairment 48 10.982
169
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 10.958
170
P LPS004 Lupus Erythematosus 61 10.914
171
c ACT027 Acute Pancreatitis 60 10.913
172
c AMY091 Amyotrophic Lateral Sclerosis 1 88 10.883
173
P RTN008 Retinitis Pigmentosa 79 10.879
174
P RCT021 Rectum Cancer 54 10.845
175
HRW001 Hair Whorl 35 10.810
176
MLR004 Malaria 78 10.805
177
P SBS003 Substance Abuse 54 10.706
178
P OPN001 Open-Angle Glaucoma 55 10.679
179
c MCR120 Microvascular Complications of Diabetes 7 47 10.605
180
LYM133 Lymphoma, Hodgkin, Classic 74 10.591
181
ANG054 Angina Pectoris 65 10.565
182
P PRP019 Peripheral Nervous System Disease 57 10.553
183
GLL048 Glial Tumor 52 10.546
184
P SLP006 Sleep Apnea 69 10.505
185
P GRF003 Graft-Versus-Host Disease 71 10.438
186
HYP056 Hypoglycemia 65 10.430
187
GLB002 Glioblastoma 67 10.411
188
c THR092 Thrombophilia Due to Thrombin Defect 74 10.404
189
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 10.362
190
THR024 Thrombosis 56 10.352
191
PRP027 Peripheral Vascular Disease 71 10.326
192
P PRK039 Parkinsonism 55 10.317
193
P ESP024 Esophagitis 60 10.313
194
BCT022 Bacterial Infectious Disease 56 10.287
195
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 10.245
196
c MCR113 Microvascular Complications of Diabetes 3 52 10.238
197
P END044 Endometriosis 62 10.235
198
P MSC005 Muscular Dystrophy 66 10.221
199
P CRD119 Cardiac Arrest 68 10.213
200
PRT037 Pertussis 49 10.208
201
SFT003 Soft Tissue Sarcoma 57 10.169
202
MCS002 Mucositis 55 10.162
203
P HYP086 Hypothyroidism 69 10.143
204
c MCR133 Microvascular Complications of Diabetes 4 41 10.074
205
c MCR130 Microvascular Complications of Diabetes 6 41 10.074
206
c ACT073 Acute Leukemia 59 10.033
207
GLM045 Glioma 62 10.019
208
HYP066 Hyperglycemia 60 9.986
209
OST159 Osteogenic Sarcoma 66 9.968
210
IRN002 Iron Metabolism Disease 56 9.937
211
P EXN002 Exanthem 58 9.886
212
SVR001 Severe Acute Respiratory Syndrome 68 9.776
213
c ACT068 Acute Cystitis 61 9.766
214
P GLM007 Glomerulonephritis 59 9.750
215
c PLM164 Pulmonary Hypertension, Primary, 1 80 9.698
216
P SCK005 Sickle Cell Disease 56 9.697
217
PRS045 Prostatic Hypertrophy 52 9.649
218
IMP005 Impotence 52 9.585
219
NNL006 Non-Alcoholic Steatohepatitis 54 9.564
220
GST033 Gestational Diabetes 61 9.546
221
P MYC084 Mycobacterium Tuberculosis 1 68 9.529
222
P ACN011 Acne 55 9.515
223
c FML021 Familial Hypercholesterolemia 71 9.508
224
c HPT073 Hepatitis C Virus 71 9.472
225
P PLM036 Pulmonary Fibrosis 65 9.455
226
c ACT071 Acute Kidney Failure 60 9.452
227
END040 Endogenous Depression 54 9.452
228
PRS021 Prostatic Adenoma 43 9.404
229
c DLT002 Dilated Cardiomyopathy 79 9.369
230
P ALP008 Alopecia 53 9.362
231
HLC007 Helicobacter Pylori Infection 67 9.355
232
PLM134 Pulmonary Fibrosis, Idiopathic 76 9.332
233
PRS129 Prostatic Hyperplasia, Benign 48 9.282
234
BRN024 Bronchitis 67 9.237
235
THY029 Thyroid Carcinoma 54 9.131
236
P MDL005 Medulloblastoma 75 9.129
237
GST045 Gastroenteritis 58 9.116
238
HMP009 Haemophilus Influenzae 41 9.110
239
STM007 Stomatitis 52 9.064
240
P ATX030 Ataxia-Telangiectasia 80 9.036
241
OTT002 Otitis Media 71 9.035
242
P LKM071 Leukemia, Chronic Lymphocytic 74 9.023
243
RCK004 Rickets 65 9.020
244
P NSP012 Nasopharyngeal Carcinoma 60 8.991
245
P GLM040 Glioma Susceptibility 1 70 8.965
246
HYP266 Hypoxia 56 8.954
247
P PLY011 Polycystic Ovary Syndrome 57 8.933
248
P LTR001 Lateral Sclerosis 58 8.843
249
c TBR025 Tuberous Sclerosis 1 84 8.749
250
PLM033 Pulmonary Embolism 58 8.739
251
PPT005 Peptic Ulcer Disease 58 8.701
252
OVR094 Ovarian Epithelial Cancer 39 8.700
253
PRS047 Prostatitis 58 8.696
254
SKN016 Skin Disease 62 8.658
255
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 8.625
256
P LNG064 Lung Cancer Susceptibility 3 70 8.603
257
RLP002 Relapsing-Remitting Multiple Sclerosis 56 8.602
258
TTN003 Tetanus 64 8.584
259
P VSC011 Vasculitis 61 8.576
260
DSS032 Disease by Infectious Agent 55 8.548
261
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 8.520
262
P SKN015 Skin Carcinoma 71 8.479
263
SPS057 Spasticity 43 8.461
264
P ENC018 Encephalopathy 62 8.450
265
FML304 Familial Isolated Dilated Cardiomyopathy 51 8.427
266
PRP030 Purpura 54 8.415
267
LYM143 Lymphoma, Non-Hodgkin, Familial 79 8.386
268
FSC004 Fasciitis 49 8.372
269
DYS073 Dysphagia 53 8.311
270
GST019 Gastrointestinal Stromal Tumor 78 8.218
271
P SCL018 Scoliosis 57 8.205
272
ADN018 Adenoma 58 8.205
273
P HML002 Hemolytic Anemia 62 8.190
274
P CHL066 Cholangitis 51 8.176
275
P EYD002 Eye Disease 57 8.166
276
PLM001 Pulmonary Tuberculosis 69 8.154
277
c GLC092 Glaucoma, Primary Open Angle 61 8.063
278
OBS002 Obsessive-Compulsive Disorder 68 8.055
279
BNR002 Bone Resorption Disease 47 8.048
280
GNG013 Gingivitis 59 8.047
281
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 8.046
282
ANR040 Aneurysm 60 8.040
283
DPH001 Diphtheria 59 8.031
284
P RTN024 Retinoblastoma 72 7.978
285
P HYD006 Hydrocephalus 63 7.949
286
KRT002 Keratomalacia 54 7.939
287
NRL016 Neural Tube Defects 81 7.919
288
MSC157 Muscular Dystrophy, Duchenne Type 79 7.845
289
c PRD040 Periodontitis, Chronic 52 7.834
290
P ECL001 Eclampsia 52 7.760
291
c INF071 Inflammatory Bowel Disease 1 65 7.756
292
GLC003 Glucose Intolerance 53 7.728
293
P THL005 Thalassemia 56 7.686
294
OCL069 Ocular Motor Apraxia 57 7.658
295
DFF005 Diffuse Large B-Cell Lymphoma 55 7.652
296
ATM095 Autoimmune Disease 61 7.650
297
P HYP750 Hypertriglyceridemia, Familial 62 7.645
298
P RHB003 Rhabdomyosarcoma 66 7.644
299
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 7.627
300
BRN056 Bronchopulmonary Dysplasia 57 7.591
301
INT066 Interstitial Lung Disease 60 7.549
302
PNC129 Pancreatic Adenocarcinoma 65 7.509
303
P CYS018 Cystitis 59 7.504
304
NRR001 Neuroretinitis 42 7.492
305
ENT011 Enterocolitis 55 7.467
306
ACT084 Acute Stress Disorder 53 7.457
307
c LKM063 Leukemia, Chronic Myeloid 71 7.453
308
P UVT001 Uveitis 57 7.440
309
P NPH012 Nephrotic Syndrome 62 7.424
310
P MYP004 Myopathy 67 7.351
311
INS024 Insulin-Like Growth Factor I 77 7.349
312
CHL065 Cholangiocarcinoma 58 7.339
313
TNS005 Tonsillitis 57 7.330
314
c GLL024 Gallbladder Disease 1 53 7.321
315
PSR001 Psoriatic Arthritis 61 7.305
316
ART016 Aortic Aneurysm 69 7.302
317
P HRP006 Herpes Simplex 65 7.297
318
LPT014 Leptin Deficiency or Dysfunction 77 7.293
319
P SRC025 Sarcoidosis 1 70 7.281
320
P PHC003 Pheochromocytoma 70 7.268
321
LSH001 Leishmaniasis 63 7.264
322
P ART023 Arthropathy 60 7.262
323
MLG169 Malignant Astrocytoma 57 7.235
324
MSL001 Measles 61 7.213
325
ALL006 Allergic Asthma 56 7.197
326
CHL152 Childhood Acute Lymphocytic Leukemia 50 7.174
327
ANR007 Anorexia Nervosa 59 7.120
328
RTN023 Retinitis 45 7.118
329
P TRM003 Tremor 50 7.090
330
VSC002 Vascular Dementia 59 7.058
331
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 6.992
332
P SLP005 Sleep Disorder 62 6.988
334
P ART021 Arteriosclerosis 53 6.975
335
IGR001 Ige Responsiveness, Atopic 59 6.965
336
c VRL010 Viral Hepatitis 52 6.943
337
P KLZ004 Kala-Azar 1 41 6.934
338
AVD001 Avoidant Personality Disorder 49 6.919
339
INT079 Intrahepatic Cholangiocarcinoma 51 6.916
340
c SCL052 Scleroderma, Familial Progressive 60 6.868
341
CRH005 Crohn's Colitis 53 6.856
342
PLM010 Pulmonary Edema 54 6.822
343
P CRD246 Cardiovascular System Disease 55 6.821
344
NTR005 Nutritional Deficiency Disease 60 6.763
345
P THY032 Thyroiditis 56 6.736
346
CRD132 Cardiac Conduction Defect 59 6.719
347
PRP080 Peripheral Artery Disease 54 6.685
348
SCK003 Sickle Cell Anemia 74 6.648
349
DBT010 Diabetic Neuropathy 54 6.641
350
P CHR071 Charcot-Marie-Tooth Disease 64 6.616
351
P HYP098 Hypereosinophilic Syndrome 66 6.552
352
CRD223 Cardiac Arrhythmia 63 6.528
353
P PLY019 Polyneuropathy 53 6.513
354
KRT019 Keratitis, Hereditary 66 6.500
355
BRD004 Borderline Personality Disorder 53 6.495
356
P OVR082 Overgrowth Syndrome 42 6.458
357
VRC005 Varicose Veins 59 6.453
358
ENT004 Enthesopathy 51 6.436
359
KRT009 Keratosis 52 6.434
360
P TBR001 Tuberous Sclerosis 69 6.418
361
CLF027 Cleft Palate, Isolated 64 6.405
362
c BTT014 Beta-Thalassemia 72 6.403
363
c BRS111 Breast-Ovarian Cancer, Familial 2 54 6.395
364
VRL011 Viral Infectious Disease 60 6.383
365
P PLY014 Polycystic Kidney Disease 71 6.375
366
BRN002 Bronchiolitis 57 6.364
367
P KDN017 Kidney Cancer 60 6.360
368
P BNG032 Benign Mesothelioma 53 6.331
369
P TXP001 Toxoplasmosis 60 6.326
370
PRN019 Perinatal Necrotizing Enterocolitis 60 6.299
371
PRT013 Portal Hypertension 59 6.299
372
P ZLL001 Zellweger Syndrome 65 6.246
373
CHL067 Cholecystitis 59 6.242
374
NRT004 Neuritis 53 6.240
375
KRT006 Keratoconjunctivitis 53 6.234
376
HYP080 Hypogonadism 49 6.231
377
CHL004 Cholelithiasis 48 6.199
378
P HNT016 Huntington Disease 73 6.187
379
P HYP076 Hyperthyroidism 53 6.132
380
P BND020 Bone Disease 60 6.099
381
SCH014 Schistosomiasis 56 6.099
382
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 6.098
383
c JVN010 Juvenile Rheumatoid Arthritis 66 6.086
384
P LPR021 Leprosy 3 71 6.070
385
LMY002 Leiomyoma 51 6.070
386
ATX019 Ataxia with Vitamin E Deficiency 44 6.067
387
TRN015 Transient Cerebral Ischemia 62 6.060
388
NWB001 Newborn Respiratory Distress Syndrome 56 6.058
389
SVR004 Severe Combined Immunodeficiency 71 6.056
390
CRD137 Cardiogenic Shock 56 6.044
391
HGH043 High Grade Glioma 46 6.034
392
c EXD008 Exudative Vitreoretinopathy 1 71 5.977
393
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 5.976
394
SPL018 Splenomegaly 47 5.974
395
P MTR014 Motor Neuron Disease 65 5.953
396
BLR008 Bilirubin Metabolic Disorder 57 5.950
397
DYS015 Dysentery 50 5.915
398
c HMP029 Hemophilia a 69 5.910
399
HMC014 Homocysteinemia 52 5.884
400
P SPP010 Suppressor of Tumorigenicity 3 51 5.882
401
CRN030 Coronary Stenosis 50 5.868
402
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 5.855
403
c ACT134 Acute Liver Failure 57 5.848
404
FCT001 Factor Viii Deficiency 62 5.839
405
GTR002 Goiter 52 5.792
406
PST092 Posttransplant Acute Limbic Encephalitis 29 5.762
407
HPT022 Hepatoblastoma 54 5.704
408
LYM019 Lymphosarcoma 46 5.692
409
P MLN007 Male Infertility 56 5.692
410
RSP019 Respiratory Distress Syndrome in Premature Infants 52 5.675
411
PPT001 Peptic Esophagitis 51 5.656
412
FRN006 Frontotemporal Dementia 68 5.616
413
P CLC063 Celiac Disease 1 66 5.604
414
c DPH024 Diaphragmatic Hernia, Congenital 64 5.564
415
P RRH023 Rare Hereditary Hemochromatosis 53 5.548
416
P OPT006 Optic Nerve Disease 57 5.545
417
MSC007 Muscle Hypertrophy 64 5.534
418
P RBL001 Rubella 58 5.533
419
GLL008 Gilles De La Tourette Syndrome 64 5.525
420
LYM040 Lymphoblastic Lymphoma 53 5.503
421
SYN036 Syncope 44 5.502
422
P BRN022 Bronchiectasis 59 5.495
423
P GCH001 Gaucher's Disease 69 5.490
424
PPL022 Papilloma 53 5.483
425
BRN028 Brain Cancer 73 5.477
426
TLN003 Telangiectasis 51 5.451
427
MNN043 Meningioma, Familial 79 5.431
428
IRN001 Iron Deficiency Anemia 58 5.429
429
CRV045 Cervical Intraepithelial Neoplasia 38 5.421
430
P GRV001 Graves' Disease 54 5.417
431
c BSL007 Basal Cell Carcinoma 68 5.411
432
P ASP006 Aspergillosis 71 5.366
433
PRM236 Primary Biliary Cholangitis 62 5.333
434
DRM011 Dermatophytosis 52 5.324
435
FND002 Fundus Dystrophy 55 5.312
436
P HMP007 Hemophilia 52 5.253
437
P INT068 Intestinal Disease 53 5.241
438
SQM002 Squamous Cell Papilloma 45 5.238
439
LYM017 Lyme Disease 63 5.227
440
IGG001 Iga Glomerulonephritis 50 5.226
441
BRK010 Burkitt Lymphoma 66 5.221
442
ADR007 Adrenoleukodystrophy 74 5.143
443
THY030 Thyroid Gland Disease 50 5.141
444
KRT001 Keratoconjunctivitis Sicca 49 5.138
445
HMS001 Hemosiderosis 48 5.133
446
ART074 Aortic Dissection 53 5.129
447
ACT119 Acute Promyelocytic Leukemia 62 5.104
448
KPS004 Kaposi Sarcoma 76 5.097
449
CRV002 Cervix Uteri Carcinoma in Situ 48 5.091
450
DRY001 Dry Eye Syndrome 49 5.091
451
CHL079 Children's Interstitial Lung Disease 26 5.089
452
P AMY004 Amyloidosis 69 5.086
453
NPH009 Nephrolithiasis 54 5.080
454
FDL002 Food Allergy 47 5.037
455
SCH012 Schizoaffective Disorder 49 5.037
456
OPT003 Opiate Dependence 49 5.026
457
P ANP001 Anaplastic Large Cell Lymphoma 61 5.012
458
SDD001 Sudden Infant Death Syndrome 60 4.998
459
P MSC003 Muscular Atrophy 52 4.971
460
PLS009 Plasma Cell Neoplasm 64 4.952
461
P RTN022 Retinal Vein Occlusion 54 4.950
462
HPT019 Hepatic Encephalopathy 59 4.936
463
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 4.916
464
P MJR007 Major Affective Disorder 1 42 4.904
465
PLC008 Placenta Disease 49 4.901
466
MYL031 Myeloproliferative Neoplasm 66 4.900
467
P INT143 Interstitial Cystitis 59 4.899
468
P TCD001 Tic Disorder 50 4.883
469
NRM005 Neuromuscular Disease 63 4.837
470
c INH020 Inherited Metabolic Disorder 47 4.807
471
FBR012 Fabry Disease 71 4.798
472
IDP011 Idiopathic Interstitial Pneumonia 59 4.798
473
P FML011 Familial Adenomatous Polyposis 71 4.780
474
P PMP001 Pemphigus 55 4.760
475
GST050 Gastrointestinal System Disease 55 4.743
476
P HRD011 Hereditary Spherocytosis 63 4.723
477
PLS007 Plasmodium Falciparum Malaria 52 4.721
478
P OPT009 Optic Neuritis 57 4.677
479
c HRD202 Hereditary Lymphedema I 55 4.670
480
VSC003 Visceral Leishmaniasis 54 4.670
481
NPH091 Nephrolithiasis, Calcium Oxalate 61 4.662
482
c DNT047 Dentinogenesis Imperfecta Type 2 35 4.644
483
P MLG056 Malignant Hyperthermia 65 4.623
484
P NRN021 Neuronal Ceroid Lipofuscinosis 64 4.618
485
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 4.618
486
c HMC039 Hemochromatosis, Type 1 73 4.606
487
CLR108 Colorectal Adenoma 63 4.605
488
PNC041 Pancreatic Ductal Adenocarcinoma 51 4.595
489
HPT004 Hepatic Coma 43 4.594
490
PHN003 Phenylketonuria 76 4.583
491
c CHR417 Chronic Graft Versus Host Disease 55 4.575
492
PRP016 Paraplegia 52 4.562
493
P VNT002 Ventricular Septal Defect 58 4.561
494
P MCR010 Microcephaly 59 4.551
495
P MTR004 Maturity-Onset Diabetes of the Young 66 4.534
496
P PTN014 Patent Ductus Arteriosus 1 59 4.534
497
DWR001 Dwarfism 45 4.525
498
LBR036 Leber Plus Disease 67 4.514
499
BRN012 Bronchiolitis Obliterans 56 4.456
500
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 4.445
501
RBS001 Rabies 58 4.438
502
P TRT010 Teratoma 50 4.423
503
P GLL018 Gallbladder Cancer 53 4.419
504
P MMB011 Membranous Nephropathy 50 4.376
505
BRR014 Barrett Esophagus 66 4.363
506
P NMN002 Niemann-Pick Disease 60 4.362
507
FML035 Familial Hyperlipidemia 55 4.359
508
HND015 Hand Skill, Relative 29 4.352
509
P ALP009 Alopecia Areata 59 4.313
510
STT001 Status Epilepticus 58 4.307
511
c PCH010 Pachyonychia Congenita 3 43 4.285
512
MYF001 Myofibroma 42 4.279
513
P HYP730 Hypogonadotropic Hypogonadism 54 4.276
514
c NMN015 Niemann-Pick Disease, Type C1 68 4.259
515
P PLY018 Polycythemia 56 4.247
516
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 4.234
517
AMB002 Amblyopia 49 4.221
518
P SML001 Small Cell Carcinoma 52 4.176
519
LMY014 Leiomyoma, Uterine 55 4.168
520
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 4.153
521
c SCN036 Secondary Progressive Multiple Sclerosis 55 4.151
522
WLS001 Wilson Disease 70 4.128
523
BRS051 Breast Disease 58 4.116
524
CHR073 Choreatic Disease 53 4.079
525
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 4.071
526
c MCL013 Mucolipidosis Iv 64 4.062
527
ACT058 Active Peptic Ulcer Disease 55 4.028
528
ECT026 Ectopic Pregnancy 47 4.007
529
SCH003 Schizophreniform Disorder 54 4.003
530
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 3.994
531
SPP007 Suppression Amblyopia 38 3.980
532
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 60 3.979
533
TRD006 Tardive Dyskinesia 53 3.975
534
P CLS010 Cluster Headache 42 3.956
535
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 3.949
536
c ART101 Aortic Valve Disease 2 65 3.927
537
P MGR001 Migraine Without Aura 48 3.909
538
c ATM011 Autoimmune Hepatitis 62 3.864
539
P THY023 Thymoma 64 3.859
540
P ESS003 Essential Thrombocythemia 68 3.857
541
INS001 Insulinoma 59 3.851
542
CHR100 Chronic Ulcer of Skin 57 3.851
543
P INT070 Intestinal Obstruction 57 3.836
544
VCC001 Vaccinia 49 3.816
545
ATN005 Autonomic Dysfunction 45 3.794
546
P RTN018 Retinal Disease 53 3.791
547
P HMN010 Hemangioma 61 3.782
548
P HYP265 Hypotonia 42 3.782
549
MTH009 Mouth Disease 57 3.762
550
GRN037 Granulomatosis with Polyangiitis 67 3.754
551
P STR022 Stargardt Disease 61 3.729
552
P RTT002 Rett Syndrome 79 3.719
553
PLY001 Polycythemia Vera 69 3.702
554
ABT001 Abetalipoproteinemia 68 3.696
555
SNS003 Sensory Peripheral Neuropathy 51 3.687
556
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 3.666
557
P MYM013 Moyamoya Disease 1 60 3.639
558
OPD006 Opioid Addiction 48 3.622
559
BCT021 Bacterial Sepsis 43 3.618
560
INV001 Invasive Aspergillosis 48 3.606
561
CCN001 Cocaine Dependence 48 3.594
562
c GLY008 Glycogen Storage Disease Ii 72 3.585
563
YLL002 Yellow Fever 61 3.578
564
CCN002 Cocaine Abuse 49 3.577
565
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 3.574
566
CLR030 Clear Cell Renal Cell Carcinoma 54 3.568
567
APH001 Aphthous Stomatitis 57 3.559
568
HYP020 Hyperprolactinemia 63 3.540
569
P CMP008 Compartment Syndrome 50 3.532
570
c ACT249 Acute Asthma 40 3.530
571
THR004 Thrombocytosis 52 3.528
572
ZLL011 Zellweger Spectrum Disorder 45 3.527
573
NRN005 Neuronal Ceroid-Lipofuscinoses 61 3.519
574
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 3.517
575
LYS002 Lysosomal Storage Disease 51 3.517
576
KLD004 Keloid Disorder 39 3.510
577
IRD001 Iridocyclitis 54 3.499
578
HMG002 Hemoglobinuria 50 3.490
579
BTT017 Beta-Thalassemia Major 53 3.469
580
P FCL005 Focal Segmental Glomerulosclerosis 57 3.459
581
NNT017 Neonatal Adrenoleukodystrophy 52 3.435
582
CNT016 Central Retinal Vein Occlusion 54 3.426
583
CHD004 Chudley-Mccullough Syndrome 47 3.421
584
c HYD046 Hydatidiform Mole, Recurrent, 1 59 3.419
585
LNN001 Lennox-Gastaut Syndrome 61 3.401
586
SYS003 Systolic Heart Failure 49 3.390
587
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 3.383
588
LNG039 Lung Squamous Cell Carcinoma 57 3.371
589
c ANM038 Anemia, Autoimmune Hemolytic 63 3.369
590
P HRD012 Hereditary Elliptocytosis 54 3.363
591
P LCT002 Lactose Intolerance 52 3.363
592
ADR022 Adrenomyeloneuropathy 39 3.361
593
P PLM034 Pulmonary Emphysema 58 3.335
594
HSH003 Hashimoto Thyroiditis 60 3.332
595
TRC008 Trachoma 53 3.324
596
CLN015 Colon Adenocarcinoma 64 3.323
597
PRT038 Protein-Energy Malnutrition 53 3.297
598
PRS115 Prosthetic Joint Infection 42 3.270
599
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 3.268
600
HTC003 Hutchinson-Gilford Progeria Syndrome 65 3.267
602
c PRM108 Primary Progressive Multiple Sclerosis 51 3.247
603
AND014 Androgenic Alopecia 46 3.231
604
SPP011 Suppression of Tumorigenicity 12 61 3.221
605
PRP001 Propionic Acidemia 65 3.219
606
ACR008 Acrocallosal Syndrome 70 3.218
607
CLS016 Clostridium Difficile Colitis 49 3.197
608
c NMN013 Niemann-Pick Disease, Type a 63 3.196
609
c HMP004 Hemophilia B 68 3.193
610
DFF036 Differentiated Thyroid Carcinoma 51 3.188
611
GST010 Gestational Trophoblastic Neoplasm 52 3.179
612
BLL003 Bell's Palsy 48 3.172
613
CRT084 Creatinine Clearance Quantitative Trait Locus 25 3.138
614
P ANG015 Angioedema 56 3.127
615
P HMC002 Homocystinuria 52 3.123
616
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 52 3.112
617
WTH001 Withdrawal Disorder 47 3.089
618
c SPR086 Spermatogenic Failure 3 47 3.084
619
P MTC069 Mitochondrial Disorders 57 3.074
620
NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 49 3.073
621
ERY003 Erythema Multiforme 56 3.066
622
CRT015 Carotid Artery Occlusion 45 3.060
623
P ALP061 Alopecia, Androgenetic, 1 49 3.039
624
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 3.034
625
CMB007 Combined Immunodeficiency 56 3.032
626
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26 3.032
627
P RTN016 Retinal Degeneration 52 3.016
628
P RNL100 Renal Hypodysplasia/aplasia 1 63 3.006
629
GNT003 Genital Herpes 54 2.990
630
c ATS013 Autosomal Recessive Congenital Ichthyosis 65 2.985
631
P ICH004 Ichthyosis 56 2.980
632
VTM002 Vitamin B12 Deficiency 48 2.978
633
ADR016 Adrenal Cortical Carcinoma 61 2.968
634
ACT098 Acute Erythroid Leukemia 55 2.965
635
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 62 2.962
636
LKC009 Leukocyte Adhesion Deficiency, Type I 70 2.954
637
c CNG006 Congenital Hypothyroidism 63 2.938
638
P NRM002 Normal Pressure Hydrocephalus 49 2.930
639
CYN002 Cyanosis, Transient Neonatal 43 2.927
640
ABD010 Abdominal Wall Defect 39 2.927
641
P AGN002 Agnosia 53 2.922
642
CHR661 Choreoathetosis and Congenital Hypothyroidism with or Without Pulmonary Dysfunction 49 2.911
643
c GCH015 Gaucher Disease, Type I 67 2.910
644
P LCT001 Lactic Acidosis 50 2.898
645
P INT099 Intrahepatic Cholestasis of Pregnancy 61 2.887
646
P MYT002 Myotonic Dystrophy 51 2.877
647
c HRD010 Hereditary Spastic Paraplegia 65 2.875
648
TRC003 Trichomoniasis 53 2.875
649
HRY003 Hairy Cell Leukemia 61 2.869
650
P MTC003 Metachromatic Leukodystrophy 71 2.856
651
P HRM001 Hermansky-Pudlak Syndrome 65 2.849
652
P BRS044 Breast Adenocarcinoma 58 2.800
653
P PRM002 Primary Hyperoxaluria 65 2.788
654
RCT020 Rectum Adenocarcinoma 48 2.755
655
c DMN023 Diamond-Blackfan Anemia 1 68 2.749
657
HYP457 Hypertrophic Scars 42 2.710
658
c THR082 Thrombophilia Due to Activated Protein C Resistance 58 2.701
659
c MCL062 Mucolipidosis Ii Alpha/beta 69 2.699
660
P AGM001 Agammaglobulinemia 67 2.697
661
RNL078 Renal Dysplasia 46 2.694
662
PRX001 Peroxisomal Disease 46 2.693
663
TNG002 Tangier Disease 64 2.692
664
P LKD001 Leukodystrophy 58 2.690
665
ADR054 Adrenocortical Carcinoma, Hereditary 47 2.683
666
P CWD010 Cowden Syndrome 71 2.676
667
P NGH001 Night Blindness 52 2.664
668
P KRB001 Krabbe Disease 69 2.643
669
GLM044 Glomerular Disease 34 2.642
670
P CHN012 Chondrosarcoma 56 2.625
671
c JVN061 Juvenile Arthritis 56 2.606
672
TTH006 Tooth Disease 51 2.606
673
CLS049 Classic Phenylketonuria 42 2.576
674
P MTH008 Methylmalonic Acidemia 52 2.574
675
ALB002 Albinism 47 2.547
676
PLY012 Polyhydramnios 46 2.539
677
LYM007 Lymphangioleiomyomatosis 68 2.533
678
P LMB006 Limb-Girdle Muscular Dystrophy 52 2.529
679
MCR004 Macroglobulinemia 48 2.527
680
P TYS001 Tay-Sachs Disease 69 2.516
681
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 2.516
682
THR035 Thrombasthenia 48 2.495
683
c HYP841 Hypoalphalipoproteinemia, Primary, 1 50 2.491
684
P ALP106 Alport Syndrome 1, X-Linked 48 2.449
685
CHD001 Chediak-Higashi Syndrome 67 2.444
686
PRG009 Progressive Multifocal Leukoencephalopathy 58 2.438
687
CHL013 Cholecystolithiasis 37 2.425
688
c ELL005 Elliptocytosis 2 37 2.424
689
c OPT053 Optic Atrophy 1 62 2.415
690
KRN002 Kearns-Sayre Syndrome 63 2.412
691
SND001 Sandhoff Disease 66 2.407
692
P OCL002 Oculocutaneous Albinism 59 2.393
693
SVR097 Severe Cutaneous Adverse Reaction 68 2.390
694
ADR004 Adrenal Cortical Adenocarcinoma 38 2.388
695
c SHR069 Short-Rib Thoracic Dysplasia 6 with or Without Polydactyly 56 2.356
696
GRG001 Greig Cephalopolysyndactyly Syndrome 64 2.337
697
SNS008 Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis 59 2.322
698
NRF007 Neurofibroma 64 2.314
699
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 2.296
700
c LBR004 Leber Congenital Amaurosis 1 53 2.294
701
GLN010 Glanzmann Thrombasthenia 66 2.288
702
PYL006 Pyloric Stenosis 48 2.263
703
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 2.257
704
BLP005 Blepharitis 50 2.246
705
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 2.241
706
ERY066 Erythema Multiforme Major 29 2.218
707
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 2.210
708
P PLM006 Pulmonary Alveolar Proteinosis 53 2.183
709
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 2.148
710
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 57 2.140
711
BTN004 Biotin Deficiency 44 2.130
712
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 2.120
713
HYP068 Hyperostosis 47 2.112
714
RTC005 Reticulosarcoma 47 2.096
715
STV007 Stevens-Johnson Syndrome/toxic Epidermal Necrolysis 41 2.078
716
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50 2.067
717
P DMY001 Demyelinating Polyneuropathy 41 2.060
718
P RHZ001 Rhizomelic Chondrodysplasia Punctata 57 2.058
719
MNK001 Menkes Disease 64 2.056
720
P MCL001 Mucolipidosis 49 2.051
721
OLG003 Oligohydramnios 51 2.029
722
SPS019 Spastic Paraparesis 38 2.029
724
PST048 Postural Orthostatic Tachycardia Syndrome 46 2.020
725
SMT004 Smith-Lemli-Opitz Syndrome 69 2.007
726
c HMG003 Hemoglobin E Disease 41 1.987
727
FML063 Familial Glucocorticoid Deficiency 58 1.965
728
PNC034 Pancreas Disease 49 1.958
729
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 1.949
730
LCT022 Lecithin:cholesterol Acyltransferase Deficiency 58 1.943
731
RBF001 Riboflavin Deficiency 49 1.928
732
SZR028 Seizures, Scoliosis, and Macrocephaly/microcephaly Syndrome 36 1.914
733
c HYP843 Hypoalphalipoproteinemia, Primary, 2 49 1.913
734
c PNC106 Pancreatic Agenesis 1 51 1.906
735
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 1.905
736
SPN028 Spondyloepimetaphyseal Dysplasia, Strudwick Type 50 1.905
737
c GM1007 Gm1 Gangliosidosis 65 1.882
738
PRP083 Porphyria, Acute Intermittent 64 1.881
739
HYP003 Hypermethioninemia 51 1.878
740
c CHR627 Charcot-Marie-Tooth Disease, Demyelinating, Type 1a 57 1.864
741
c THR037 Thrombocytopenia 2 37 1.836
742
SCT005 Scott Syndrome 51 1.833
743
c MYP081 Myopathy, Myofibrillar, 6 42 1.827
744
CNV004 Canavan Disease 61 1.814
745
P FML355 Familial Intrahepatic Cholestasis 42 1.789
746
PYR040 Pyropoikilocytosis, Hereditary 39 1.769
747
FCS002 Fucosidosis 62 1.766
748
P ALG028 Alagille Syndrome 1 73 1.760
749
P TRC031 Trichorhinophalangeal Syndrome 37 1.749
750
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59 1.737
751
CRV040 Cervix Carcinoma 50 1.733
752
P RNL007 Renal Tubular Acidosis 52 1.700
753
MYT011 Myotonia 38 1.693
754
BRT005 Barth Syndrome 55 1.680
755
P NRD007 Neurodegeneration with Brain Iron Accumulation 51 1.674
756
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 63 1.644
757
SPH010 Sphingolipidosis 47 1.627
758
c NMN014 Niemann-Pick Disease, Type C2 49 1.622
759
MTH074 Methionine Adenosyltransferase I/iii Deficiency 42 1.621
760
P MTC133 Mitochondrial Myopathy 51 1.613
761
FRB001 Farber Lipogranulomatosis 58 1.568
762
c ELL006 Elliptocytosis 3 34 1.567
763
PRM057 Paramyotonia Congenita of Von Eulenburg 58 1.533
764
P HYP768 Hyperlipoproteinemia, Type I 67 1.532
765
c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53 1.526
766
MLG086 Malignant Hyperthermia Susceptibility 39 1.525
767
HYP081 Hypolipoproteinemia 49 1.525
768
c RTN047 Retinitis Pigmentosa 18 45 1.513
769
P SCH017 Schindler Disease 37 1.512
770
MTC005 Mitochondrial Metabolism Disease 45 1.497
771
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 1.487
772
c CRD147 Cardiomyopathy, Familial Hypertrophic, 20 54 1.479
773
ATR003 Atrophic Rhinitis 39 1.454
774
DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 48 1.410
775
HYP732 Hyperalphalipoproteinemia 1 52 1.408
776
c CRD159 Cardiomyopathy, Dilated, 1hh 28 1.383
777
SPN151 Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy 31 1.378
779
PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 56 1.319
780
PRM127 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 37 1.317
781
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56 1.308
782
LYS003 Lysinuric Protein Intolerance 57 1.306
783
c NMN016 Niemann-Pick Disease, Type B 56 1.303
784
STL007 Steel Syndrome 42 1.288
785
c STR040 Stargardt Disease 3 34 1.241
786
PLM156 Palmoplantar Carcinoma, Multiple Self-Healing 35 1.217
787
c PRM093 Premature Ovarian Failure 7 47 1.206
788
FML026 Familial Lipoprotein Lipase Deficiency 52 1.191
789
GLY031 Glycoproteinosis 49 1.174
790
c HRM017 Hermansky-Pudlak Syndrome 2 55 1.148
791
c RBN017 Robinow Syndrome, Autosomal Dominant 2 45 1.139
792
c EPL200 Epilepsy, Childhood Absence 1 30 1.125
793
c PRT132 Protoporphyria, Erythropoietic, 1 61 1.123
794
BLD053 Blood Platelet Disease 51 1.078
795
DSR012 Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency 39 1.056
796
c OPT051 Opitz Gbbb Syndrome, Type I 45 1.053
797
CHY002 Chylomicron Retention Disease 64 1.048
798
PHS021 Phosphoglycerate Dehydrogenase Deficiency 46 1.047
799
HYP186 Hypertrophic Neuropathy of Dejerine-Sottas 52 1.001
800
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52 0.995
801
c RHZ014 Rhizomelic Chondrodysplasia Punctata, Type 2 43 0.983
802
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55 0.980
803
P STS003 Sitosterolemia 53 0.960
804
TRS021 Triosephosphate Isomerase Deficiency 44 0.940
805
c HYP739 Hyperlipoproteinemia, Type Iv 52 0.940
806
c HNT010 Huntington Disease-Like 1 55 0.894
807
c NNN025 Noonan Syndrome 10 31 0.886
808
ANL018 Analbuminemia 52 0.884
809
c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38 0.880
810
CRN048 Craniofacial-Deafness-Hand Syndrome 52 0.849
811
CRB033 Cerebral Degeneration 36 0.841
812
c AGM013 Agammaglobulinemia 1, Autosomal Recessive 38 0.829
813
c PLN017 Peeling Skin Syndrome 1 38 0.824
814
c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34 0.798
815
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 49 0.797
816
THR012 Thoracic Cancer 44 0.787
817
c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 45 0.780
818
c NNP011 Nanophthalmos 2 26 0.737
819
MND031 Mandibuloacral Dysplasia Progeroid Syndrome 33 0.733
820
c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40 0.723
821
P TRM004 Trimethylaminuria 45 0.723
822
ATP014 Atp8b1 Deficiency 28 0.708
823
STR046 Stargardt Macular Degeneration 27 0.697
824
HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 34 0.605
825
CRT045 Creatine Phosphokinase, Elevated Serum 39 0.601
826
c SPN104 Spinocerebellar Ataxia 34 40 0.574
827
c CTR132 Cataract 3, Multiple Types 41 0.542
828
CYT014 Cytochrome P450 Oxidoreductase Deficiency 35 0.535
829
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 45 0.513
830
c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 20 0.502
831
GLY015 Glycine N-Methyltransferase Deficiency 41 0.440
832
c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 12 0.311
833
PNC048 Pancreatic Lipase Deficiency 29 0.262
Content
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