Search results for Phosphate

4867 hits were found for Phosphate

# Family MCID Name MIFTS Score
1
PYR021 Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 50 52.623
2
CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 50 47.204
3
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 41.129
4
P GLC113 Galactosemia I 65 33.672
5
RBS005 Ribose 5-Phosphate Isomerase Deficiency 35 33.538
6
MTC037 Mitochondrial Phosphate Carrier Deficiency 35 31.855
7
GLC081 Glucose Phosphate Isomerase Deficiency 19 30.215
8
HML021 Hemolytic Anemia, Nonspherocytic, Due to Glucose Phosphate Isomerase Deficiency 26 29.235
9
c GLY016 Glycogen Storage Disease Ib 41 21.894
10
SPH021 Sphingosine Phosphate Lyase Insufficiency Syndrome 15 21.387
11
MNN046 Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type 9 20.347
12
DXY002 Deoxyribose-5-Phosphate Aldolase Deficiency 8 20.100
13
GLY022 Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency 6 19.872
14
GLT038 Glutamyl Ribose-5-Phosphate Storage Disease 8 19.797
15
TRS021 Triosephosphate Isomerase Deficiency 44 19.529
16
GLC038 Glucose-6-Phosphate Translocase Deficiency 5 19.408
17
HYP025 Hyperphosphatemia 47 17.741
18
FRC011 Fructose Intolerance, Hereditary 55 17.592
19
c GLY060 Glycogen Storage Disease Ia 62 16.335
20
DSR069 Disorder of Pentose Phosphate Metabolism 3 15.938
21
ANM045 Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency 50 15.673
22
c RHZ004 Rhizomelic Chondrodysplasia Punctata, Type 3 41 15.237
23
c CHR684 Chronic Kidney Disease 73 14.274
24
P KDN018 Kidney Disease 71 13.746
25
GLC039 Glucosephosphate Isomerase Deficiency 17 13.727
26
HYP017 Hypophosphatemia 49 13.259
27
RCK004 Rickets 64 12.335
28
P HYP069 Hyperparathyroidism 62 11.620
29
HYP798 Hypophosphatemic Rickets, X-Linked Recessive 60 10.473
30
CLS031 Classic Galactosemia and Clinical Variant Galactosemia 18 10.142
31
END086 End Stage Renal Disease 54 10.099
32
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 9.995
33
PRT037 Pertussis 49 9.537
34
P HYP609 Hypophosphatemic Rickets, X-Linked Dominant 65 9.462
35
NTR005 Nutritional Deficiency Disease 60 9.456
36
FRC001 Fructose-1,6-Bisphosphatase Deficiency 50 9.451
37
P HML002 Hemolytic Anemia 62 9.310
38
DFC004 Deficiency Anemia 74 9.201
39
c CNG205 Congenital Disorder of Glycosylation, Type Ij 36 9.012
40
c CNG199 Congenital Disorder of Glycosylation, Type Im 44 8.645
41
c SCN007 Secondary Hyperparathyroidism 50 8.562
42
P LKM002 Leukemia 65 8.076
43
OST011 Osteomalacia 52 8.042
44
P BND020 Bone Disease 60 7.993
45
P ACN011 Acne 55 7.805
47
PGM031 Pgm3-Congenital Disorder of Glycosylation 11 7.588
48
RPD005 Rapidly Involuting Congenital Hemangioma 48 7.454
49
BNR002 Bone Resorption Disease 47 7.449
50
P LYM118 Lymphoma 66 7.423
51
DNT012 Dental Caries 53 7.249
52
MLR004 Malaria 77 7.116
53
P HRD086 Hereditary Hypophosphatemic Rickets 40 7.089
54
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 54 6.999
55
NPH009 Nephrolithiasis 54 6.939
56
P LKM071 Leukemia, Chronic Lymphocytic 74 6.534
57
LYM019 Lymphosarcoma 46 6.436
58
BLR008 Bilirubin Metabolic Disorder 57 6.403
59
AGN016 Aging 53 6.113
60
MYL069 Myeloma, Multiple 76 6.048
61
P DBT009 Diabetes Mellitus 67 5.857
62
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 5.728
63
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 5.658
64
P NRB001 Neuroblastoma 66 5.601
65
c LKM061 Leukemia, Acute Myeloid 83 5.590
66
c TYP009 Type 2 Diabetes Mellitus 91 5.575
67
NNT012 Neonatal Jaundice 53 5.545
68
HLX001 Helix Syndrome 47 5.478
69
HRW001 Hair Whorl 35 5.456
70
NPH091 Nephrolithiasis, Calcium Oxalate 61 5.453
71
P PRS040 Prostate Cancer 95 5.430
72
ONC003 Oncogenic Osteomalacia 42 5.362
73
HYP789 Hypophosphatemic Rickets with Hypercalciuria, Hereditary 49 5.346
74
NPH003 Nephrocalcinosis 49 5.257
75
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 5.253
76
HYP005 Hypokalemia 55 5.240
77
P OST002 Osteoporosis 76 5.225
78
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 5.223
79
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 5.223
80
MYL009 Myelodysplastic Syndrome 67 5.211
81
IRN002 Iron Metabolism Disease 56 5.209
82
P FNC004 Fanconi Syndrome 60 5.208
83
OST159 Osteogenic Sarcoma 66 5.191
84
ISC004 Ischemia 61 5.176
85
P MYL006 Myeloid Leukemia 60 5.145
86
ALL029 Allergic Disease 61 5.115
87
P CTR002 Cataract 59 5.057
88
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 5.026
89
48X005 48,xyyy 39 5.025
90
MTB004 Metabolic Acidosis 48 4.956
91
P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 60 4.905
92
P TRN020 Turner Syndrome 67 4.903
93
URL001 Urolithiasis 45 4.900
94
GLM045 Glioma 62 4.897
95
GLL048 Glial Tumor 51 4.872
96
P GLY013 Glycogen Storage Disease 59 4.825
97
P LKM062 Leukemia, Acute Lymphoblastic 69 4.735
98
P MLT020 Multiple Sclerosis 79 4.667
99
P HYP024 Hypoparathyroidism 55 4.666
100
P SCK005 Sickle Cell Disease 56 4.611
101
P INF038 Influenza 68 4.601
102
c ACT071 Acute Kidney Failure 60 4.599
103
P ENC018 Encephalopathy 62 4.561
104
P HPT021 Hepatitis 68 4.560
105
P BCL017 B-Cell Lymphoma 57 4.556
106
RNL011 Renal Osteodystrophy 48 4.513
107
HYP056 Hypoglycemia 65 4.509
108
URM002 Uremia 47 4.504
109
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 4.493
110
ATH013 Atherosclerosis Susceptibility 63 4.484
111
P PRD008 Periodontitis 63 4.470
112
P BRS047 Breast Cancer 97 4.431
113
PRS047 Prostatitis 57 4.406
114
P MYP004 Myopathy 67 4.405
115
HYP266 Hypoxia 56 4.405
116
OST012 Osteoarthritis 77 4.405
117
c PRM005 Primary Hyperparathyroidism 59 4.389
118
c MCL062 Mucolipidosis Ii Alpha/beta 69 4.382
119
P SZR006 Seizure Disorder 69 4.346
120
CLC006 Calcinosis 47 4.322
121
c LKM063 Leukemia, Chronic Myeloid 70 4.316
122
P MYC084 Mycobacterium Tuberculosis 1 68 4.279
123
P THL005 Thalassemia 56 4.266
124
OST017 Osteomyelitis 63 4.263
125
LYM027 Lymphopenia 56 4.236
126
LYM143 Lymphoma, Non-Hodgkin, Familial 74 4.228
127
CHL014 Cholera 62 4.206
128
ANX004 Anoxia 40 4.161
129
SCK003 Sickle Cell Anemia 74 4.160
130
P NTR004 Neutropenia 62 4.159
131
LYM133 Lymphoma, Hodgkin, Classic 69 4.130
132
ATS010 Autosomal Recessive Disease 42 4.111
133
ADL002 Adult Syndrome 69 4.105
134
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 4.097
135
HMP009 Haemophilus Influenzae 41 4.080
136
HYP066 Hyperglycemia 60 4.063
137
STM007 Stomatitis 52 4.033
138
SKN016 Skin Disease 63 4.024
139
P ART022 Arthritis 70 4.016
140
HMN044 Human Immunodeficiency Virus Type 1 76 4.003
141
DWN001 Down Syndrome 70 3.998
142
LWC002 Lowe Oculocerebrorenal Syndrome 68 3.996
143
RNL114 Renal Cell Carcinoma, Nonpapillary 79 3.987
144
TTN003 Tetanus 64 3.968
145
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 3.964
146
BCT022 Bacterial Infectious Disease 55 3.955
147
NNL005 Non-Alcoholic Fatty Liver Disease 63 3.941
148
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 3.912
149
PRT036 Peritonitis 65 3.901
150
PLS009 Plasma Cell Neoplasm 64 3.898
151
GLB002 Glioblastoma 67 3.895
152
P GRF003 Graft-Versus-Host Disease 71 3.879
153
c HYP595 Hypertension, Essential 84 3.878
154
GT001 Gout 63 3.873
155
P ANR048 Aniridia 1 66 3.866
156
P VSC007 Vascular Disease 62 3.835
157
P GLM040 Glioma Susceptibility 1 70 3.827
158
P NRP001 Neuropathy 59 3.821
159
P PSR002 Psoriasis 63 3.815
160
STR067 Stroke, Ischemic 79 3.808
161
PST011 Pustulosis of Palm and Sole 52 3.805
162
CLT003 Colitis 63 3.797
163
P THR014 Thrombocytopenia 66 3.796
164
FTT001 Fatty Liver Disease 61 3.766
165
CRB039 Cerebrovascular Disease 65 3.750
166
P OVR042 Ovarian Cancer 88 3.744
167
CYT002 Cytokine Deficiency 43 3.697
168
RLP002 Relapsing-Remitting Multiple Sclerosis 56 3.687
169
HMT002 Hematologic Cancer 61 3.676
170
PRT251 Proteinuria, Chronic Benign 58 3.676
171
P HPT023 Hepatocellular Carcinoma 95 3.672
172
DPH001 Diphtheria 59 3.631
173
P SRC025 Sarcoidosis 1 70 3.628
174
P PNM007 Pneumonia 64 3.625
175
IMM167 Immune Deficiency Disease 76 3.616
176
CNS004 Constipation 56 3.603
177
PYR009 Pyridoxine Deficiency Anemia 35 3.588
178
CNG017 Congenital Nonspherocytic Hemolytic Anemia 34 3.585
179
P ADN016 Adenocarcinoma 63 3.575
180
c ACT073 Acute Leukemia 59 3.564
181
c INH020 Inherited Metabolic Disorder 47 3.561
182
P MLN008 Melanoma 75 3.547
183
P UVT001 Uveitis 57 3.538
184
MYL005 Myelofibrosis 70 3.537
185
PRS045 Prostatic Hypertrophy 53 3.532
186
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 3.525
187
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 34 3.510
188
ANT066 Anterior Cutaneous Nerve Entrapment Syndrome 35 3.510
189
SVR004 Severe Combined Immunodeficiency 70 3.505
190
PLS007 Plasmodium Falciparum Malaria 52 3.490
191
LYM040 Lymphoblastic Lymphoma 53 3.488
192
c HPT003 Hepatitis a 63 3.486
193
KRT002 Keratomalacia 54 3.478
194
CVD001 Covid-19 59 3.478
195
c HPT001 Hepatitis C 61 3.472
196
PRS021 Prostatic Adenoma 43 3.469
197
MYL031 Myeloproliferative Neoplasm 66 3.464
198
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 3.460
199
c CHR064 Chronic Monocytic Leukemia 35 3.444
200
P PRP019 Peripheral Nervous System Disease 57 3.425
201
PRS129 Prostatic Hyperplasia, Benign 48 3.416
202
P CHR012 Chronic Granulomatous Disease 69 3.404
203
P RHM011 Rheumatoid Arthritis 81 3.391
204
ART140 Arteries, Anomalies of 52 3.389
205
P LNG032 Lung Cancer 98 3.380
206
PLM017 Pulmonary Alveolar Microlithiasis 48 3.379
207
P HYP086 Hypothyroidism 68 3.371
208
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 3.361
209
ULC004 Ulcerative Colitis 74 3.360
210
MCS002 Mucositis 55 3.348
211
P CNJ013 Conjunctivitis 66 3.346
212
LPP008 Lipoprotein Quantitative Trait Locus 65 3.336
213
P SJG008 Sjogren Syndrome 60 3.322
214
P MSC005 Muscular Dystrophy 66 3.313
215
ANT039 Antisynthetase Syndrome 55 3.304
216
47X002 47,xyy 47 3.298
217
P NPH012 Nephrotic Syndrome 61 3.285
218
P PLY018 Polycythemia 56 3.245
219
P FLL037 Follicular Lymphoma 66 3.208
220
ATM095 Autoimmune Disease 61 3.202
221
P HRP006 Herpes Simplex 65 3.181
222
P KRN004 Kernicterus 47 3.179
223
P DRR001 Diarrhea 55 3.158
224
c PRS130 Prostate Cancer, Hereditary, 8 32 3.155
225
c PRS136 Prostate Cancer, Hereditary, 6 33 3.155
226
INS024 Insulin-Like Growth Factor I 77 3.150
227
OST003 Osteonecrosis 60 3.123
228
LVR012 Liver Cirrhosis 62 3.113
229
c MCR113 Microvascular Complications of Diabetes 3 52 3.098
230
c MCR120 Microvascular Complications of Diabetes 7 47 3.098
231
CNG034 Congestive Heart Failure 69 3.097
232
P DRM053 Dermatitis, Atopic 65 3.095
233
ALL014 Allergic Encephalomyelitis 34 3.093
234
c LKM056 Leukemia, Chronic Lymphocytic 2 47 3.089
235
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 3.074
236
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 3.074
237
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 3.074
238
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 3.074
239
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 3.074
240
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 3.074
241
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 3.074
242
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 3.074
243
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 3.074
244
P URN019 Urinary Tract Infection 48 3.073
245
RHB024 Rhabdomyosarcoma 2 65 3.064
246
P CLR023 Colorectal Cancer 100 3.056
247
MNT001 Mantle Cell Lymphoma 65 3.051
248
P LVR013 Liver Disease 68 3.048
249
BRK010 Burkitt Lymphoma 65 3.044
250
MCR004 Macroglobulinemia 48 3.040
251
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.033
252
PST092 Posttransplant Acute Limbic Encephalitis 29 3.028
253
TRN021 Transaldolase Deficiency 43 3.018
254
DBT084 Diabetes Mellitus, Ketosis-Prone 59 3.006
255
ACQ007 Acquired Immunodeficiency Syndrome 58 3.006
256
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 3.000
257
P PSD015 Pseudohypoparathyroidism 54 2.985
258
BNM001 Bone Marrow Cancer 45 2.975
259
P CHR285 Chronic Myelomonocytic Leukemia 59 2.971
260
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 27 2.971
261
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 2.966
262
c BLD140 Blood Group, I System 47 2.958
263
P KDN017 Kidney Cancer 60 2.955
264
P MSC003 Muscular Atrophy 52 2.948
265
P RSP003 Respiratory Failure 73 2.944
266
P AST005 Asthma 75 2.943
267
P HYP076 Hyperthyroidism 53 2.942
268
P EPL164 Epilepsy 70 2.937
270
SPL004 Splenic Marginal Zone Lymphoma 50 2.925
271
c HYP836 Hypercholesterolemia, Familial, 1 73 2.909
272
OCL069 Ocular Motor Apraxia 57 2.908
273
c MCR133 Microvascular Complications of Diabetes 4 41 2.894
274
c MCR130 Microvascular Complications of Diabetes 6 41 2.894
275
LPD008 Lipid Metabolism Disorder 61 2.894
276
SVR001 Severe Acute Respiratory Syndrome 68 2.893
277
DRM006 Dermatitis 61 2.888
278
P ANP001 Anaplastic Large Cell Lymphoma 59 2.883
279
P HYP035 Hypophosphatasia 61 2.858
280
c DNT047 Dentinogenesis Imperfecta Type 2 35 2.846
281
HMG002 Hemoglobinuria 50 2.845
282
P ADL010 Adult Respiratory Distress Syndrome 70 2.840
283
P DNT020 Dent Disease 1 63 2.834
284
P EYD002 Eye Disease 57 2.832
285
RFR010 Refractory Anemia 49 2.817
286
IRD001 Iridocyclitis 54 2.803
287
P LCT001 Lactic Acidosis 50 2.796
288
THY029 Thyroid Carcinoma 55 2.795
289
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 48 2.779
290
TLN003 Telangiectasis 51 2.778
291
PRL017 Prolymphocytic Leukemia 47 2.769
292
P PLM036 Pulmonary Fibrosis 65 2.767
293
CHG001 Chagas Disease 65 2.766
294
P PNC035 Pancreatic Cancer 87 2.744
295
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 2.734
296
PLY001 Polycythemia Vera 69 2.730
297
AND005 Androgen Insensitivity Syndrome, Mild 21 2.727
298
MNT002 Mental Depression 56 2.721
299
PNG002 Pain Agnosia 51 2.719
300
CRH001 Crohn's Disease 80 2.709
301
c VRL010 Viral Hepatitis 52 2.709
302
LMB002 Lambert-Eaton Myasthenic Syndrome 51 2.705
303
CHR682 Chronic Bilirubin Encephalopathy 37 2.701
304
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.695
305
HGH043 High Grade Glioma 46 2.694
306
HMG005 Hemoglobinopathy 55 2.693
307
c ATR087 Atrial Standstill 1 74 2.684
308
P HYP265 Hypotonia 42 2.679
309
P ART023 Arthropathy 59 2.679
310
MYL075 Myelodysplastic/myeloproliferative Neoplasm 51 2.674
311
P KLZ004 Kala-Azar 1 41 2.658
312
LSH001 Leishmaniasis 63 2.658
313
MCC012 Mccune-Albright Syndrome 69 2.653
314
ALC007 Alcohol Dependence 65 2.651
315
HML018 Homologous Wasting Disease 21 2.645
316
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 2.644
317
DSS032 Disease by Infectious Agent 55 2.638
318
P HRT032 Heart Disease 84 2.632
319
PPL052 Papillomatosis, Confluent and Reticulated 34 2.626
320
P ALZ034 Alzheimer Disease 87 2.626
321
MYC006 Mycosis Fungoides 64 2.614
322
HRY003 Hairy Cell Leukemia 53 2.611
323
c ATS239 Autosomal Recessive Hypophosphatemic Rickets 51 2.605
324
P ALP008 Alopecia 53 2.599
325
MLG169 Malignant Astrocytoma 57 2.598
326
DFF005 Diffuse Large B-Cell Lymphoma 55 2.597
327
SQM006 Squamous Cell Carcinoma 59 2.591
328
SLP001 Sleeping Sickness 56 2.588
329
c PSD108 Pseudohypoparathyroidism, Type Ia 64 2.587
330
LNG099 Lung Disease 62 2.586
331
PRP027 Peripheral Vascular Disease 71 2.583
332
c GLL024 Gallbladder Disease 1 53 2.583
333
P BSL038 Basal Ganglia Calcification, Idiopathic, 1 51 2.580
334
ADN018 Adenoma 58 2.569
335
c SML038 Small Cell Cancer of the Lung 68 2.567
336
TXC005 Toxic Shock Syndrome 61 2.562
337
P ART021 Arteriosclerosis 53 2.562
338
P INF037 Inflammatory Bowel Disease 53 2.551
339
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 2.543
340
SRC014 Sarcoma 64 2.542
341
P PHC003 Pheochromocytoma 70 2.540
342
ADR040 Adrenal Gland Pheochromocytoma 45 2.540
343
CYS001 Cystic Fibrosis 77 2.530
344
SKN019 Skin Melanoma 70 2.530
345
c CNG411 Congenital Disorder of Glycosylation, Type in 66 2.525
346
P ESS003 Essential Thrombocythemia 68 2.504
347
CRB004 Cerebral Artery Occlusion 45 2.502
348
c CNG027 Congenital Hemolytic Anemia 49 2.496
349
GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 36 2.495
350
DPR016 Depression 64 2.490
351
BCT002 Bacterial Vaginosis 52 2.487
352
SPN186 Spinal Cord Injury 60 2.482
353
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 61 2.479
354
KRT006 Keratoconjunctivitis 53 2.475
355
KRT019 Keratitis, Hereditary 66 2.475
356
P LPS004 Lupus Erythematosus 61 2.466
357
P CRN300 Coronary Heart Disease 1 73 2.463
358
c SYS001 Systemic Lupus Erythematosus 85 2.462
359
LYS002 Lysosomal Storage Disease 51 2.457
360
c HPT016 Hepatitis B 62 2.457
361
PYR016 Pyridoxine Deficiency 29 2.457
362
BRN071 Brain Injury 50 2.454
363
P PLM037 Pulmonary Hypertension 69 2.452
364
c BTT014 Beta-Thalassemia 72 2.450
365
P MTH007 Methemoglobinemia 46 2.450
366
c AMY091 Amyotrophic Lateral Sclerosis 1 87 2.449
367
P LTR001 Lateral Sclerosis 57 2.449
368
PLY150 Polykaryocytosis Inducer 29 2.448
369
c SCL052 Scleroderma, Familial Progressive 60 2.447
370
FML091 Familial Tumoral Calcinosis 45 2.443
371
c PRD040 Periodontitis, Chronic 52 2.442
372
P MYS003 Myasthenia Gravis 67 2.439
373
P BPL003 Bipolar Disorder 56 2.439
374
ACT113 Acute Myeloblastic Leukemia with Maturation 46 2.435
375
P ATX030 Ataxia-Telangiectasia 80 2.435
376
c MJR022 Major Affective Disorder 8 37 2.434
377
c MJR024 Major Affective Disorder 9 40 2.434
378
P RNL007 Renal Tubular Acidosis 52 2.423
379
SPN035 Spindle Cell Sarcoma 51 2.422
380
P HYP802 Hypocalcemia, Autosomal Dominant 1 68 2.418
381
PLS006 Plasmodium Vivax Malaria 51 2.417
382
EPL131 Epilepsy, Pyridoxine-Dependent 46 2.411
383
JVN004 Juvenile Myelomonocytic Leukemia 66 2.407
384
c NPH056 Nephrolithiasis/osteoporosis, Hypophosphatemic, 1 43 2.405
385
IDP073 Idiopathic Hypercalciuria 41 2.393
386
c LKM005 Leukemia, T-Cell, Chronic 33 2.392
387
P MYC007 Myocardial Infarction 69 2.391
388
FNG017 Fungal Infectious Disease 54 2.389
389
c ACT027 Acute Pancreatitis 60 2.383
390
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 2.382
391
DRY001 Dry Eye Syndrome 49 2.381
392
P CNR004 Cone-Rod Dystrophy 2 74 2.380
393
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 2.379
394
SPL018 Splenomegaly 47 2.378
395
P CRD119 Cardiac Arrest 68 2.376
396
c GLY017 Glycogen Storage Disease Ic 30 2.369
397
SYN007 Synovitis 54 2.361
398
PLC002 Plica Syndrome 35 2.361
399
RTC005 Reticulosarcoma 47 2.358
400
P CHR345 Chronic Pain 50 2.350
401
INT054 Intraocular Lymphoma 48 2.346
402
c MCR115 Microvascular Complications of Diabetes 5 65 2.342
403
VCC001 Vaccinia 49 2.339
404
c TYP008 Type 1 Diabetes Mellitus 77 2.339
405
P END044 Endometriosis 62 2.337
406
c HYP292 Hypophosphatasia, Infantile 56 2.333
407
c ACT068 Acute Cystitis 60 2.330
408
P FBR017 Fibrosarcoma 55 2.320
409
c PRM038 Primary Agammaglobulinemia 47 2.297
410
PLS011 Plasmacytoma 56 2.287
411
c FNC043 Fanconi Anemia, Complementation Group E 62 2.280
412
P PNC044 Pancreatitis 61 2.277
413
c CRN243 Carney Complex, Type 1 53 2.275
414
TRM010 Traumatic Brain Injury 50 2.272
415
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 2.270
416
P INF032 Infertility 60 2.268
417
P GLM007 Glomerulonephritis 59 2.268
418
END057 Endometrial Cancer 76 2.263
419
ACT011 Acute Contagious Conjunctivitis 41 2.253
420
c PRC016 Pre-Eclampsia 64 2.249
421
P ALC033 Alcohol Use Disorder 67 2.247
422
P HRD011 Hereditary Spherocytosis 63 2.243
423
PLM129 Pulmonary Disease, Chronic Obstructive 74 2.241
424
ENM001 Enamel Caries 28 2.225
425
BNN003 Bone Inflammation Disease 47 2.221
426
P GST053 Gastric Cancer 82 2.217
427
ACT098 Acute Erythroid Leukemia 55 2.217
428
c PSR017 Psoriasis 2 53 2.213
429
P PLY019 Polyneuropathy 52 2.209
430
P HYP733 Hypercalciuria, Absorptive, 2 45 2.193
431
CHL068 Cholestasis 61 2.192
432
SQM013 Squamous Cell Carcinoma, Head and Neck 75 2.191
433
FBR009 Fibrous Dysplasia 48 2.191
434
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 2.187
435
OTT002 Otitis Media 70 2.187
436
P THY032 Thyroiditis 56 2.179
437
HYP014 Hyperuricemia 51 2.178
438
P APL001 Aplastic Anemia 72 2.175
439
c PCH010 Pachyonychia Congenita 3 43 2.165
440
PRM329 Premature Aging 36 2.164
441
P HNT016 Huntington Disease 73 2.159
442
P ADL017 Adult T-Cell Leukemia 53 2.157
443
ATX019 Ataxia with Vitamin E Deficiency 44 2.155
444
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 51 2.154
445
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 2.154
446
DGN001 Degenerative Disc Disease 48 2.151
447
c HPT073 Hepatitis C Virus 70 2.146
448
CHL123 Chlamydia 58 2.139
449
P OVR082 Overgrowth Syndrome 41 2.138
450
P PRK039 Parkinsonism 55 2.135
451
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 69 2.129
452
P BLD134 Bladder Cancer 79 2.128
453
MCL006 Macular Retinal Edema 56 2.126
454
P RHB003 Rhabdomyosarcoma 66 2.124
455
GNG003 Gingival Recession 50 2.120
456
P HYP098 Hypereosinophilic Syndrome 66 2.118
457
URC002 Urea Cycle Disorder 51 2.117
458
P SCH015 Schizophrenia 74 2.111
459
GLC003 Glucose Intolerance 53 2.109
460
ESP021 Esophageal Cancer 84 2.107
461
c PNS012 Paine Syndrome 60 2.104
462
c TMR019 Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 24 2.103
463
LYM012 Lymphoplasmacytic Lymphoma 50 2.103
464
RFR007 Refractory Anemia with Excess Blasts in Transformation 26 2.098
465
P RHN004 Rhinitis 56 2.093
466
P ENC004 Encephalitis 61 2.091
467
P HMC002 Homocystinuria 52 2.090
468
HPT004 Hepatic Coma 43 2.088
469
P MCL001 Mucolipidosis 49 2.079
470
P CYS018 Cystitis 58 2.077
471
P PRK057 Parkinson Disease, Late-Onset 79 2.077
472
ORT008 Orotic Aciduria 56 2.069
473
c ACT075 Acute Myocardial Infarction 55 2.068
474
PPL022 Papilloma 53 2.067
475
HYP060 Hyperinsulinism 53 2.066
476
CYS010 Cystinosis 61 2.061
477
VRL011 Viral Infectious Disease 60 2.058
478
FLL041 Follicular Lymphoma 1 44 2.056
479
CMB007 Combined Immunodeficiency 56 2.056
480
P SYS005 Systemic Scleroderma 73 2.053
481
P BRB001 Beriberi 44 2.052
482
CLN015 Colon Adenocarcinoma 64 2.050
483
CLC001 Calciphylaxis 50 2.049
484
P BNC003 Bone Cancer 58 2.044
485
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 2.044
486
INS001 Insulinoma 59 2.040
487
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 2.037
488
P LNG064 Lung Cancer Susceptibility 3 69 2.032
489
c BRN108 Branchiootic Syndrome 1 63 2.027
490
MSC007 Muscle Hypertrophy 64 2.026
491
HYD038 Hydrops Fetalis, Nonimmune 57 2.024
492
c LYM150 Lymphatic Malformation 7 43 2.024
493
PRP080 Peripheral Artery Disease 54 2.022
494
P CTN015 Cutaneous T Cell Lymphoma 48 2.021
495
c ACT135 Acute Graft Versus Host Disease 51 2.019
496
WLD007 Waldenstroem's Macroglobulinemia 59 2.019
497
MYL074 Myelodysplastic Syndrome with Excess Blasts 38 2.017
498
MSC157 Muscular Dystrophy, Duchenne Type 78 2.014
499
NCT003 N-Acetylglutamate Synthase Deficiency 43 2.012
500
c NPH102 Nephrotic Syndrome, Type 14 44 2.010
501
P NSP012 Nasopharyngeal Carcinoma 60 2.002
502
ANK001 Ankylosis 50 1.998
503
KRT001 Keratoconjunctivitis Sicca 49 1.996
504
ANP008 Anaplastic Oligoastrocytoma 31 1.994
505
WST001 West Syndrome 64 1.992
506
CHR074 Choriocarcinoma 46 1.992
507
HPT019 Hepatic Encephalopathy 59 1.989
508
OVR094 Ovarian Epithelial Cancer 39 1.987
509
ALL009 Allergic Conjunctivitis 51 1.987
510
c ALP101 Alpha-Thalassemia 62 1.983
511
CRV035 Cervical Cancer 72 1.983
512
PRP036 Peripheral T-Cell Lymphoma 52 1.979
513
P LYM033 Lymphoproliferative Syndrome 59 1.979
514
HDG004 Hodgkin's Granuloma 22 1.977
515
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 42 1.977
516
HDG006 Hodgkin's Paragranuloma 22 1.977
517
SCN001 Secondary Hyperparathyroidism of Renal Origin 24 1.966
518
CNT047 Contact Dermatitis 56 1.960
519
P HYP061 Hypertrophic Cardiomyopathy 68 1.956
520
P HMN010 Hemangioma 61 1.955
521
AYM001 Ayme-Gripp Syndrome 57 1.955
522
MMM001 Mammary Paget's Disease 53 1.949
523
BRN004 Brain Edema 54 1.947
524
P MLN007 Male Infertility 56 1.933
525
P MYC033 Myoclonus 46 1.931
526
c PLM164 Pulmonary Hypertension, Primary, 1 75 1.926
527
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 29 1.925
528
c EPS039 Episodic Pain Syndrome, Familial, 1 42 1.917
529
GLB001 Gilbert Syndrome 53 1.914
530
P ESP024 Esophagitis 60 1.914
531
HMN014 Human Immunodeficiency Virus Infectious Disease 54 1.911
532
P BRS044 Breast Adenocarcinoma 58 1.910
533
c GLY008 Glycogen Storage Disease Ii 72 1.908
534
P CRD246 Cardiovascular System Disease 55 1.908
535
P MYC008 Myocarditis 59 1.906
536
P TXP001 Toxoplasmosis 59 1.905
537
c DWL002 Dowling-Degos Disease 1 58 1.904
538
THR004 Thrombocytosis 52 1.898
539
HRT012 Heart Valve Disease 53 1.892
540
SFT003 Soft Tissue Sarcoma 43 1.889
541
SZR001 Sezary's Disease 60 1.887
542
c PRM012 Primary Polycythemia 58 1.876
543
c NPH042 Nephrolithiasis/osteoporosis, Hypophosphatemic, 2 34 1.868
544
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 1.860
545
c BCT013 Bacterial Pneumonia 47 1.857
546
P HYP750 Hypertriglyceridemia, Familial 61 1.856
547
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 1.856
548
SCH014 Schistosomiasis 56 1.856
549
CRT065 Cortisone Reductase Deficiency 1 25 1.854
550
CLR030 Clear Cell Renal Cell Carcinoma 53 1.853
551
ENM002 Enamel Erosion 25 1.848
552
BRN028 Brain Cancer 73 1.845
553
KPS004 Kaposi Sarcoma 76 1.844
554
CRT020 Cortisone Reductase Deficiency 36 1.842
555
c PSR023 Psoriasis 1 52 1.841
556
c DLT002 Dilated Cardiomyopathy 79 1.837
557
c THY056 Thyroid Dyshormonogenesis 3 32 1.837
558
HMS001 Hemosiderosis 48 1.835
559
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.834
560
P AMY004 Amyloidosis 69 1.827
561
c NRP068 Neuropathy, Hereditary Motor and Sensory, Type Vic, with Optic Atrophy 21 1.821
562
P MDL005 Medulloblastoma 75 1.820
563
LMB062 Limb Ischemia 55 1.817
564
OST062 Osteoarthritis with Mild Chondrodysplasia 46 1.810
565
P CHN012 Chondrosarcoma 56 1.803
566
P CMP005 Campomelic Dysplasia 65 1.800
567
c LKM060 Leukemia, Acute Lymphoblastic 3 49 1.798
568
TND005 Tendinitis 53 1.796
569
RYS001 Reye Syndrome 49 1.795
570
c TMR020 Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 26 1.795
571
ALL003 Allergic Rhinitis 66 1.793
572
ANG054 Angina Pectoris 65 1.792
574
DRT002 Duarte Variant Galactosemia 13 1.787
575
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 1.785
576
P SPN046 Spinal Muscular Atrophy 62 1.785
577
IRN001 Iron Deficiency Anemia 58 1.781
578
c PSR028 Psoriasis 7 42 1.780
579
c PSR018 Psoriasis 13 40 1.780
580
c PSR032 Psoriasis 11 47 1.780
581
NNL006 Non-Alcoholic Steatohepatitis 54 1.780
582
PSY004 Psychotic Disorder 66 1.778
583
ATY042 Atypical Chronic Myeloid Leukemia 50 1.775
584
P CNG001 Congenital Myasthenic Syndrome 68 1.772
585
c ACT134 Acute Liver Failure 57 1.770
586
HNS001 Hansen's Disease 32 1.765
587
P RRH023 Rare Hereditary Hemochromatosis 52 1.765
588
c ART115 Aortic Valve Disease 1 72 1.759
589
RNL065 Renal Cell Carcinoma, Papillary, 1 79 1.758
590
c GLC111 Galactosemia Ii 54 1.755
591
IMP005 Impotence 52 1.749
592
P CRP001 Carpal Tunnel Syndrome 65 1.748
593
P SCL018 Scoliosis 57 1.746
594
INT323 Intraocular Pressure Quantitative Trait Locus 63 1.743
595
MTH071 Methane Production 24 1.742
596
PLM010 Pulmonary Edema 54 1.739
597
PRT029 Parathyroid Adenoma 51 1.737
598
P PLY014 Polycystic Kidney Disease 71 1.736
599
P TRM003 Tremor 50 1.736
600
RNL077 Renal Fibrosis 46 1.735
601
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65 1.732
602
TYP007 Typhoid Fever 63 1.727
603
GLS018 Glass Syndrome 60 1.725
604
GST045 Gastroenteritis 58 1.721
605
ARG004 Argyria 26 1.720
606
P LPR021 Leprosy 3 71 1.715
607
P PLY011 Polycystic Ovary Syndrome 57 1.714
608
SHR103 Short Stature, Developmental Delay, and Congenital Heart Defects 29 1.714
609
NRL016 Neural Tube Defects 80 1.713
610
KHN001 Kuhnt-Junius Degeneration 48 1.711
611
VSL002 Visual Epilepsy 39 1.707
612
TRY001 Trypanosomiasis 50 1.706
613
P VSC011 Vasculitis 61 1.705
614
FBR047 Fibromyalgia 57 1.703
615
HMC014 Homocysteinemia 52 1.698
616
KRT009 Keratosis 52 1.695
617
PLM031 Poliomyelitis 62 1.693
618
NRR001 Neuroretinitis 42 1.692
619
RTN023 Retinitis 45 1.692
620
AXL003 Axial Osteomalacia 31 1.688
621
P SKN015 Skin Carcinoma 71 1.687
622
P EXN002 Exanthem 58 1.683
623
c THR090 Thrombocythemia 1 50 1.679
624
P WSK001 Wiskott-Aldrich Syndrome 72 1.678
625
P GCH001 Gaucher's Disease 69 1.677
626
PLM001 Pulmonary Tuberculosis 69 1.675
627
END040 Endogenous Depression 54 1.665
628
SQM002 Squamous Cell Papilloma 45 1.662
629
c BSL049 Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive 23 1.659
630
BCK006 Back Pain 43 1.658
631
INT002 Intermittent Claudication 61 1.658
632
SPN027 Spinal Stenosis 58 1.655
633
CHC001 Chickenpox 56 1.655
634
ACR007 Acromegaly 70 1.654
635
VGN023 Vaginitis 56 1.653
637
MTH009 Mouth Disease 57 1.647
638
CHR286 Chronic Neutrophilic Leukemia 42 1.645
639
P CND004 Candidiasis 57 1.643
640
P DNG005 Dengue Virus 55 1.638
641
P ZLL001 Zellweger Syndrome 65 1.634
642
P NMN002 Niemann-Pick Disease 60 1.632
643
SCH012 Schizoaffective Disorder 49 1.632
644
HYP080 Hypogonadism 49 1.630
645
SYS003 Systolic Heart Failure 49 1.629
646
ENT004 Enthesopathy 51 1.629
647
P ICH004 Ichthyosis 56 1.628
648
PRP030 Purpura 54 1.627
649
PCK003 Pick Disease of Brain 70 1.625
650
c PRM340 Primary Adrenal Insufficiency 37 1.625
651
RSC001 Rosacea 55 1.624
652
P MTR014 Motor Neuron Disease 65 1.624
653
P KRT007 Keratoconus 49 1.624
654
LNG031 Lung Benign Neoplasm 51 1.622
655
P DST107 Distal Renal Tubular Acidosis 48 1.622
656
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 1.621
657
P CNT004 Centronuclear Myopathy 56 1.621
658
EWN003 Ewing Sarcoma 69 1.618
659
LMY002 Leiomyoma 51 1.617
660
PHN003 Phenylketonuria 76 1.615
661
TCL002 T-Cell Large Granular Lymphocyte Leukemia 48 1.614
662
THR024 Thrombosis 56 1.612
663
P SPP010 Suppressor of Tumorigenicity 3 50 1.611
664
P VTM036 Vitamin D-Dependent Rickets 40 1.609
665
SPT004 Septic Arthritis 58 1.609
666
ANG046 Angioimmunoblastic T-Cell Lymphoma 50 1.607
667
P CRB088 Cerebral Atrophy 32 1.597
668
TRD006 Tardive Dyskinesia 53 1.596
669
c GLC079 Glaucoma 1, Open Angle, P 23 1.587
670
IRR002 Irritable Bowel Syndrome 64 1.586
671
IDP085 Idiopathic Infantile Hypercalcemia 32 1.582
672
PLS025 Plasmablastic Lymphoma 47 1.580
673
LYM048 Lymphoma, Large-Cell, Immunoblastic 27 1.580
674
ANT024 Anthrax Disease 57 1.580
675
P MYP006 Myopia 55 1.576
676
ADR007 Adrenoleukodystrophy 73 1.573
677
STT001 Status Epilepticus 58 1.570
678
P CTR177 Citrullinemia, Type Ii, Adult-Onset 56 1.570
679
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 48 1.566
680
VSC003 Visceral Leishmaniasis 54 1.563
681
P PRP003 Porphyria Cutanea Tarda 66 1.562
682
P TRT010 Teratoma 50 1.561
683
OST004 Osteitis Fibrosa 38 1.558
684
P PRP029 Porphyria 60 1.556
685
P PRM002 Primary Hyperoxaluria 65 1.556
686
P SCL015 Scleritis 47 1.553
687
OST115 Osteonecrosis of the Jaw 40 1.553
688
SYS070 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood 35 1.546
689
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 43 1.546
690
P MXD050 Mixed Phenotype Acute Leukemia 46 1.546
691
P LCH002 Lichen Planus 54 1.544
692
c HPT015 Hepatitis D 49 1.541
693
PRP007 Priapism 46 1.531
694
RTR008 Root Resorption 44 1.529
695
CLF027 Cleft Palate, Isolated 64 1.525
696
P MJR001 Major Depressive Disorder 68 1.520
697
c THY107 Thymoma, Familial 42 1.518
698
P THY023 Thymoma 64 1.518
699
P MTC133 Mitochondrial Myopathy 51 1.517
700
P CRV039 Cervicitis 52 1.516
701
P NRV007 Nervous System Disease 65 1.516
702
KLD004 Keloid Disorder 38 1.514
703
RTC003 Root Caries 33 1.514
704
NRM005 Neuromuscular Disease 62 1.514
705
BRN024 Bronchitis 67 1.514
706
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 1.511
707
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 1.511
708
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 54 1.510
709
LYM051 Lymphomatoid Granulomatosis 44 1.510
710
c INF071 Inflammatory Bowel Disease 1 65 1.510
711
URT010 Ureteral Obstruction 44 1.510
712
DWR001 Dwarfism 44 1.510
713
RFR002 Refractory Hairy Cell Leukemia 34 1.506
714
MST005 Mastitis 52 1.505
715
BRN056 Bronchopulmonary Dysplasia 57 1.503
716
WLL004 Wallerian Degeneration 38 1.502
717
MSN004 Mesenchymal Cell Neoplasm 42 1.495
718
VSL013 Visual Impairment and Progressive Phthisis Bulbi 36 1.491
719
SBC016 Subacute Delirium 42 1.488
720
RBF001 Riboflavin Deficiency 49 1.484
721
P GST044 Gastritis 55 1.481
722
c PST005 Posterior Uveitis 54 1.480
723
CHD004 Chudley-Mccullough Syndrome 47 1.480
724
GST050 Gastrointestinal System Disease 55 1.479
725
P SLP006 Sleep Apnea 69 1.475
726
ARG002 Argininosuccinic Aciduria 61 1.472
727
CRN030 Coronary Stenosis 50 1.471
728
P RTN024 Retinoblastoma 72 1.465
729
CTR172 Citrullinemia, Classic 64 1.463
730
PDT043 Pediatric Acute-Onset Neuropsychiatric Syndrome 26 1.462
731
CHR563 Chronic Eosinophilic Leukemia 48 1.462
732
P ASP006 Aspergillosis 71 1.462
733
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 1.461
734
MRG003 Marginal Zone B-Cell Lymphoma 52 1.457
735
RDC002 Radiculopathy 51 1.455
736
CNT033 Central Nervous System Cancer 47 1.454
737
P NRV006 Nervous System Cancer 47 1.454
738
P OLG002 Oligodendroglioma 66 1.453
739
CLC004 Calcific Tendinitis 33 1.453
740
CLF001 Cleft Lip 54 1.452
741
CRY024 Crystal Arthropathies 18 1.450
742
ALL010 Allergic Contact Dermatitis 55 1.446
743
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 1.445
744
c HYP794 Hyperoxaluria, Primary, Type I 63 1.444
745
c GRV008 Graves Disease 1 54 1.444
746
P SNS001 Sensorineural Hearing Loss 60 1.443
747
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.443
748
EPL166 Epilepsy, Early-Onset, Vitamin B6-Dependent 25 1.441
749
CLL003 Cellulitis 53 1.440
750
P PGT001 Paget's Disease of Bone 60 1.438
751
CHP002 Chops Syndrome 47 1.437
752
c FML015 Familial Nephrotic Syndrome 48 1.436
753
AGG012 Aggressive Nk-Cell Leukemia 47 1.434
754
EPT021 Epithelial Recurrent Erosion Dystrophy 45 1.434
755
P AGN002 Agnosia 53 1.434
756
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.430
757
P AVS003 Avascular Necrosis 41 1.430
758
CND006 Candida Glabrata 29 1.429
759
P NJM001 Nijmegen Breakage Syndrome 75 1.426
760
PYR041 Pyruvate Kinase Deficiency of Red Cells 56 1.426
761
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58 1.424
762
CHR178 Chromosomal Triplication 33 1.420
763
P NRN021 Neuronal Ceroid Lipofuscinosis 64 1.420
764
c ANM038 Anemia, Autoimmune Hemolytic 63 1.419
765
P DRM010 Dermatomyositis 61 1.419
766
MDD018 Middle East Respiratory Syndrome 44 1.418
767
c SVR003 Severe Congenital Neutropenia 59 1.416
768
OPS002 Opsismodysplasia 37 1.412
769
P GRV001 Graves' Disease 54 1.411
770
HST010 Histiocytosis 49 1.411
771
CNN005 Connective Tissue Disease 66 1.410
772
INT146 Intervertebral Disc Disease 61 1.409
773
MYF001 Myofibroma 42 1.409
774
PPT005 Peptic Ulcer Disease 58 1.408
775
P ECL001 Eclampsia 52 1.405
776
KRT008 Keratopathy 46 1.405
777
P MLG056 Malignant Hyperthermia 65 1.404
778
P ATR011 Atrial Fibrillation 66 1.403
779
NPH098 Nephrolithiasis, X-Linked Recessive, with Renal Failure 42 1.397
780
P HYD006 Hydrocephalus 62 1.395
781
CRB150 Cerebral Creatine Deficiency Syndrome 2 54 1.393
782
c ANT023 Anterior Scleritis 30 1.393
783
P CHN059 Chondrocalcinosis 51 1.391
784
THY030 Thyroid Gland Disease 50 1.389
785
ANR040 Aneurysm 60 1.388
786
PNC001 Pancytopenia 52 1.386
787
PRM013 Premature Menopause 57 1.386
788
P HMP007 Hemophilia 52 1.386
789
c THY071 Thyroid Dyshormonogenesis 1 31 1.385
790
P ANG015 Angioedema 56 1.381
791
HYP712 Hypercalcemia, Infantile, 2 20 1.381
792
GRN017 Granulocytopenia 42 1.380
793
c VRL005 Viral Pneumonia 52 1.380
794
c THR092 Thrombophilia Due to Thrombin Defect 74 1.379
795
ALL006 Allergic Asthma 55 1.376
796
ARG007 Argininemia 58 1.375
797
P DDN001 Duodenal Ulcer 52 1.371
798
P ALP009 Alopecia Areata 59 1.370
799
P INT143 Interstitial Cystitis 59 1.369
800
HYP457 Hypertrophic Scars 42 1.358
801
MND023 Mend Syndrome 49 1.357
802
P SCL048 Sclerosteosis 58 1.354
803
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 1.354
804
PLP001 Pulpitis 48 1.353
805
NRN005 Neuronal Ceroid-Lipofuscinoses 61 1.352
806
CRH005 Crohn's Colitis 53 1.352
807
P INT070 Intestinal Obstruction 57 1.350
808
NWC001 Newcastle Disease 47 1.350
809
MRF001 Marfan Syndrome 76 1.349
810
BRC012 Brucellosis 66 1.348
811
DYS073 Dysphagia 53 1.347
812
PRM226 Primary Central Nervous System Lymphoma 47 1.345
813
P OVR049 Ovarian Disease 50 1.345
814
VGN020 Vaginal Disease 49 1.341
815
ATR057 Atrioventricular Block 54 1.339
816
P FNC026 Fanconi Renotubular Syndrome 1 49 1.339
817
ART016 Aortic Aneurysm 68 1.339
818
c HPT007 Hepatitis E 50 1.337
819
MXD026 Mixed Glioma 45 1.334
820
EMB004 Embryonal Carcinoma 55 1.334
821
TMR017 Tumoral Calcinosis, Normophosphatemic, Familial 31 1.330
822
GST023 Gastric Ulcer 52 1.328
823
c ALM001 Al Amyloidosis 54 1.328
824
ARM002 Aromatic L-Amino Acid Decarboxylase Deficiency 55 1.328
825
P PLY041 Polymyositis 58 1.328
826
MYC079 Myoclonic Epilepsy of Lafora 63 1.327
827
PRG074 Progressive Myoclonus Epilepsy, Lafora Type 29 1.327
828
BRT054 Brittle Bone Disorder 74 1.323
829
HYP458 Hyper Ige Syndrome 60 1.322
830
P HMP002 Hemophagocytic Lymphohistiocytosis 60 1.322
831
P END033 Endocarditis 58 1.321
832
FRZ001 Frozen Shoulder 54 1.317
833
BRS064 Bursitis 51 1.317
834
ART035 Arterial Calcification of Infancy 58 1.316
835
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 59 1.316
836
P CNT005 Central Nervous System Lymphoma 51 1.316
837
c SCN036 Secondary Progressive Multiple Sclerosis 55 1.315
838
GTR002 Goiter 52 1.312
839
LRG008 Large Granular Lymphocyte Leukemia 34 1.312
840
STN013 Stenotrophomonas Maltophilia Infection 26 1.310
841
AMN006 Aminoaciduria 37 1.310
842
CYN002 Cyanosis, Transient Neonatal 43 1.310
843
c TYR012 Tyrosinemia, Type I 61 1.309
844
CRC021 Carcinosarcoma 62 1.308
845
P INS002 in Situ Carcinoma 52 1.306
846
c VTM027 Vitamin D-Dependent Rickets, Type 2a 54 1.305
847
P PNC025 Panic Disorder 52 1.304
848
PRR001 Periarthritis 33 1.302
849
DYS015 Dysentery 49 1.298
850
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 1.297
851
c CHR688 Chronic Acquired Demyelinating Polyneuropathy 16 1.297
852
SPN020 Spondylosis 46 1.295
853
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 1.295
854
HYP141 Hyperphenylalaninemia 42 1.294
855
CRY005 Cryptococcosis 61 1.293
856
c ART101 Aortic Valve Disease 2 65 1.292
857
c BSL039 Basal Ganglia Calcification, Idiopathic, 6 24 1.288
858
OST016 Osteochondrosis 52 1.287
859
FBR012 Fabry Disease 71 1.286
860
TRN018 Transitional Cell Carcinoma 56 1.286
861
c PRM108 Primary Progressive Multiple Sclerosis 51 1.284
862
CHL065 Cholangiocarcinoma 57 1.280
863
INT079 Intrahepatic Cholangiocarcinoma 51 1.280
864
CTN007 Cutaneous Leishmaniasis 61 1.278
865
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 1.272
866
LPT014 Leptin Deficiency or Dysfunction 77 1.271
867
c HNT011 Huntington Disease-Like 3 33 1.270
868
BSL009 Basal Ganglia Calcification 45 1.270
869
NRT004 Neuritis 53 1.269
870
FLL027 Fallopian Tube Carcinoma 66 1.269
871
LMY014 Leiomyoma, Uterine 55 1.269
872
c HMG003 Hemoglobin E Disease 41 1.268
873
P BNG032 Benign Mesothelioma 53 1.265
874
P MCR010 Microcephaly 59 1.262
875
FLR002 Filariasis 55 1.261
876
THY122 Thyroid Gland Cancer 59 1.261
877
c DMN023 Diamond-Blackfan Anemia 1 68 1.260
878
P CLC063 Celiac Disease 1 65 1.259
879
CLF004 Cleft Lip/palate 56 1.256
880
VLV047 Volvulus of Midgut 55 1.256
881
ANG049 Angioedema Induced by Ace Inhibitors 38 1.256
882
RBS001 Rabies 57 1.254
883
GRM005 Germ Cell Cancer 46 1.253
884
P SML001 Small Cell Carcinoma 52 1.252
885
P CRN037 Craniosynostosis 67 1.249
886
CRB090 Cerebral Hypoxia 42 1.246
887
ILS001 Ileus 49 1.246
888
AMD002 Amed Syndrome, Digenic 36 1.244
889
ART004 Aortic Atherosclerosis 46 1.241
890
ANR007 Anorexia Nervosa 59 1.239
891
P HYP726 Hypercalcemia, Infantile, 1 58 1.237
892
CHD001 Chediak-Higashi Syndrome 66 1.237
893
CHN010 Chondroma 43 1.236
894
SYN036 Syncope 44 1.233
895
P PYL005 Pyelonephritis 56 1.233
896
c FNC027 Fanconi Anemia, Complementation Group a 80 1.233
897
IDP070 Idiopathic Scoliosis 41 1.230
898
LYM017 Lyme Disease 63 1.229
899
HVY002 Heavy Metal Poisoning 22 1.229
900
P DMN001 Diamond-Blackfan Anemia 73 1.228
901
c BSL032 Basal Ganglia Calcification, Idiopathic, 4 25 1.227
902
HMN047 Human Cytomegalovirus Infection 59 1.222
903
P OPT006 Optic Nerve Disease 57 1.221
904
c MGR028 Migraine with or Without Aura 1 63 1.219
905
FDL002 Food Allergy 47 1.218
906
ENC014 Enchondroma 28 1.218
907
c CHR417 Chronic Graft Versus Host Disease 55 1.216
908
c ATS307 Autosomal Recessive Cerebellar Ataxia 38 1.216
909
MDL009 Medullary Sponge Kidney 40 1.215
910
OCL006 Ocular Hypertension 53 1.214
911
VGN019 Vaginal Discharge 33 1.213
912
CRN027 Corneal Neovascularization 47 1.211
913
SPN051 Spondylitis 51 1.211
914
INF009 Inflammatory Spondylopathy 30 1.211
915
AMN001 Amenorrhea 53 1.209
916
c JVN010 Juvenile Rheumatoid Arthritis 52 1.208
917
HYP043 Hyperandrogenism 47 1.208
918
CYS014 Cystadenocarcinoma 51 1.207
919
LYD001 Leydig Cell Tumor 45 1.207
920
PRT013 Portal Hypertension 59 1.205
921
P MCR129 Microvascular Complications of Diabetes 1 67 1.202
922
PLM033 Pulmonary Embolism 58 1.201
923
c SPN225 Spondyloarthropathy 1 70 1.200
924
c AML044 Amelogenesis Imperfecta, Type Ig 54 1.199
925
GYR004 Gyrate Atrophy of Choroid and Retina 58 1.198
926
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 44 1.198
927
VLK001 Volkmann Contracture 23 1.197
928
c PRG020 Paragangliomas 3 39 1.194
929
TNS005 Tonsillitis 57 1.192
930
c DRM054 Dermatitis, Atopic, 2 47 1.189
931
c RTN047 Retinitis Pigmentosa 18 45 1.189
932
PRP016 Paraplegia 52 1.189
933
P DMN002 Dementia 65 1.187
934
WTH001 Withdrawal Disorder 47 1.187
935
NRD100 Neurodevelopmental, Jaw, Eye, and Digital Syndrome 50 1.187
936
ACT119 Acute Promyelocytic Leukemia 62 1.185
937
INT007 Intermediate Coronary Syndrome 53 1.181
938
P LKD001 Leukodystrophy 58 1.180
939
P RTN022 Retinal Vein Occlusion 54 1.179
940
P RTN016 Retinal Degeneration 52 1.176
941
P BCL004 B-Cell Non-Hodgkin Lymphoma 41 1.176
942
c INF019 Infectious Anterior Uveitis 31 1.176
943
P NNN030 Non-Infectious Anterior Uveitis 14 1.176
944
PTT037 Pituitary Tumors