Search results for live*

10122 hits were found for live*

# Family MCID Name MIFTS Score
1
c ACT134 Acute Liver Failure 57 32.250
2
c INF145 Infantile Liver Failure Syndrome 1 44 31.250
3
LVR012 Liver Cirrhosis 62 31.250
4
P LVR013 Liver Disease 68 31.250
5
ALC009 Alcoholic Liver Cirrhosis 54 31.250
6
PLY023 Polycystic Liver Disease 62 29.250
7
LVR002 Liver Angiosarcoma 42 29.250
8
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58 28.250
9
NNL005 Non-Alcoholic Fatty Liver Disease 63 28.250
10
c INF138 Infantile Liver Failure Syndrome 2 29 27.250
11
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 27.250
12
c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65 27.250
13
c LVR030 Liver Failure, Infantile, Transient 34 27.250
14
FTT001 Fatty Liver Disease 61 27.250
15
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 66 26.250
16
c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 17 26.250
17
c INF190 Infantile Liver Failure Syndrome 3 21 26.250
18
INT271 Interstitial Lung and Liver Disease 41 26.250
19
c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 44 26.250
20
LVD003 Livedoid Vasculitis 37 26.250
21
NTM001 Nutmeg Liver 24 26.250
22
LVR004 Liver Inflammatory Pseudotumor 30 26.250
23
GLY058 Glycogen Storage Disease 0, Liver 34 25.250
24
c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 23 25.250
25
c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19 25.250
26
c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53 25.250
27
LVR001 Liver Lipoma 22 25.250
28
c INF194 Infantile Liver Failure Syndrome 30 25.250
29
HMN004 Hemangioma of Liver 34 25.250
30
LVR010 Liver Leiomyosarcoma 30 25.250
31
LVR014 Liver Sarcoma 26 25.250
32
LVR009 Liver Rhabdomyosarcoma 16 25.250
33
LYM153 Lymphoplasmacytic Inflammatory Pseudotumor of the Liver 9 25.250
34
SLT015 Solitary Necrotic Nodule of the Liver 12 25.250
35
LVR008 Liver Fibrosarcoma 13 25.000
36
NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11 24.250
37
c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22 24.250
38
FTT007 Fatty Liver Disease, Nonalcoholic 2 12 24.250
39
FCL084 Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature 39 24.250
40
LVR007 Liver Fibroma 21 24.250
41
DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 14 24.250
42
LVR005 Liver Leiomyoma 29 24.250
43
LVR006 Liver Lymphoma 26 24.250
44
LVR032 Liver Adenomatosis 28 24.250
45
RRM017 Rare Metabolic Liver Disease 7 24.250
46
UND001 Undifferentiated Embryonal Sarcoma of the Liver 31 24.250
47
LVR031 Liver Benign Neoplasm 30 24.000
48
LVR003 Liver Carcinoma in Situ 18 24.000
49
LVR029 Liver Fibrocystic Disease and Polydactyly 7 23.250
50
GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 41 23.250
51
CRC044 Carcinoma of Liver and Intrahepatic Biliary Tract 9 23.000
52
SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 10 23.000
53
VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6 23.000
54
ADN087 Adenocarcinoma of the Liver and Intrahepatic Biliary Tract 6 23.000
55
UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 8 23.000
56
FBR098 Fibrohistiocytic Inflammatory Pseudotumor of the Liver 4 23.000
57
FVR002 Fever-Associated Acute Infantile Liver Failure Syndrome 13 23.000
58
P HPT023 Hepatocellular Carcinoma 95 22.250
59
RRV010 Rare Vascular Liver Disease 6 22.250
60
GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5 22.000
61
PYR019 Pyruvate Kinase Deficiency, Liver Type 2 22.000
62
HPT075 Hepatitis B Reinfection Following Liver Transplantation 3 22.000
63
RRM018 Rare Malignant Epithelial Tumor of Liver and Intrahepatic Biliary Tract 4 22.000
64
GNT104 Genetic Parenchymatous Liver Disease 3 22.000
65
RRD034 Rare Disorder Potentially Indicated for Liver Transplant 3 22.000
66
RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 4 22.000
67
RRP029 Rare Parenchymal Liver Disease 4 22.000
68
AMB005 Amoebiasis Due to Free-Living Amoebae 17 21.000
69
ALC006 Alcoholic Hepatitis 61 20.250
70
HPT085 Hepatitis, Fulminant Viral 33 19.250
71
HYP555 Hypertriglyceridemia, Transient Infantile 39 19.250
72
DRG002 Drug-Induced Hepatitis 42 19.250
73
P HPT021 Hepatitis 68 19.250
74
PRM236 Primary Biliary Cholangitis 62 19.250
75
DBN001 Dubin-Johnson Syndrome 58 18.250
76
PDT042 Pediatric Hepatocellular Carcinoma 51 18.250
77
CYS008 Cystic Echinococcosis 57 18.250
78
ECH003 Echinococcosis 52 18.250
79
NDL013 Nodular Regenerative Hyperplasia 46 18.250
80
LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58 17.250
81
HPT082 Hepatic Adenomas, Familial 39 17.250
82
c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38 17.250
83
P HPT020 Hepatic Vascular Disease 37 17.250
84
FSC002 Fascioliasis 43 17.250
85
c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62 16.250
86
CRN295 Carnitine Palmitoyltransferase I Deficiency 55 16.250
87
c GLY097 Glycogen Storage Disease Ixb 44 16.250
88
GLY099 Glycogen Storage Disease Ixa1 35 16.250
89
c GLY044 Glycogen Storage Disease Ixc 37 16.250
90
P CNG436 Congenital Disorder of Deglycosylation 51 16.250
91
VSC053 Visceral Steatosis, Congenital 35 16.250
92
c GLY005 Glycogen Storage Disease Vi 59 16.250
93
NNL006 Non-Alcoholic Steatohepatitis 54 16.250
94
HLL004 Hellp Syndrome 53 16.250
95
P VSC018 Visceral Steatosis 32 16.250
96
PRM205 Primary Hepatic Neuroendocrine Carcinoma 30 16.250
97
c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34 15.250
98
MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 44 15.250
99
MLB001 Mulibrey Nanism 51 15.250
100
GLB001 Gilbert Syndrome 53 15.250
101
HPT081 Hepatic Infarction 32 15.250
102
CLN003 Clonorchiasis 42 15.250
103
c GLY006 Glycogen Storage Disease Viii 34 15.250
104
OPS001 Opisthorchiasis 41 15.250
105
ASP004 Asphyxia Neonatorum 50 15.250
106
HPT008 Hepatic Tuberculosis 37 15.250
107
P CNG048 Congenital Hepatic Fibrosis 36 15.250
108
SND002 Sneddon Syndrome 48 14.250
109
c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 36 14.250
110
RYS001 Reye Syndrome 49 14.250
111
HPT011 Hepatocellular Clear Cell Carcinoma 46 14.250
112
P HYP252 Hypochromic Microcytic Anemia with Iron Overload 18 14.250
113
HPT028 Hepatic Cystic Hamartoma 17 14.250
114
PRM341 Primary Biliary Cholangitis/primary Sclerosing Cholangitis and Autoimmune Hepatitis Overlap Syndrome 8 14.250
115
P RJB003 Rajab Interstitial Lung Disease with Brain Calcifications 1 31 14.000
116
CYT022 Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 8 12.250
117
HPT017 Hepatic Osteogenic Sarcoma 8 12.000
118
P CRG003 Crigler-Najjar Syndrome, Type I 64 10.250
119
WLS001 Wilson Disease 70 10.250
120
ALP103 Alpha-1-Antitrypsin Deficiency 67 10.250
121
P ALG028 Alagille Syndrome 1 73 10.250
122
c ATM011 Autoimmune Hepatitis 62 10.250
123
c ART071 Aortic Aneurysm, Familial Thoracic 6 41 10.000
124
BLR028 Biliary Atresia, Extrahepatic 36 9.250
125
ORN008 Ornithine Transcarbamylase Deficiency, Hyperammonemia Due to 61 9.250
126
c TYR012 Tyrosinemia, Type I 61 9.250
127
c HPT073 Hepatitis C Virus 70 9.250
128
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 58 9.250
129
CHL065 Cholangiocarcinoma 57 9.250
130
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52 9.250
131
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 9.250
132
BLR001 Biliary Atresia 55 9.250
133
c FML021 Familial Hypercholesterolemia 71 9.250
134
INT079 Intrahepatic Cholangiocarcinoma 51 9.250
135
ALV002 Alveolar Echinococcosis 56 9.250
136
P TRC086 Trichohepatoenteric Syndrome 1 59 8.250
137
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 8.250
138
LYS012 Lysosomal Acid Lipase Deficiency 64 8.250
139
c PRX059 Peroxisome Biogenesis Disorder 1a 57 8.250
140
c NMN013 Niemann-Pick Disease, Type a 63 8.250
141
c NMN015 Niemann-Pick Disease, Type C1 68 8.250
142
c GLL024 Gallbladder Disease 1 53 8.250
143
HYP481 Hyperbiliverdinemia 25 8.250
144
c NMN016 Niemann-Pick Disease, Type B 56 8.250
145
FCT007 Factor Vii Deficiency 64 8.250
146
ADL096 Adult Hepatocellular Carcinoma 60 8.250
147
P GLY013 Glycogen Storage Disease 59 8.250
148
P BLD062 Bile Duct Cancer 69 8.250
149
c HPT001 Hepatitis C 61 8.250
150
c HPT016 Hepatitis B 62 8.250
151
FBR086 Fibrolamellar Carcinoma 59 8.250
152
RHB001 Rhabdoid Cancer 68 8.250
153
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 8.250
154
ACR006 Aceruloplasminemia 63 7.250
155
P GLL020 Gallbladder Disease 57 7.250
156
DWN001 Down Syndrome 70 7.250
157
P CCH009 Coach Syndrome 1 54 7.250
158
CYS001 Cystic Fibrosis 77 7.250
159
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 7.250
160
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 7.250
161
c PRX045 Peroxisome Biogenesis Disorder 1b 61 7.250
162
c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53 7.250
163
P LYM113 Lymphoproliferative Syndrome, X-Linked, 1 64 7.250
164
P GST053 Gastric Cancer 82 7.250
165
c CHL119 Cholangitis, Primary Sclerosing 57 7.250
166
ANG020 Angiosarcoma 63 7.250
167
c HYP794 Hyperoxaluria, Primary, Type I 63 7.250
168
c HMC039 Hemochromatosis, Type 1 73 7.250
169
c MTC058 Mitochondrial Dna Depletion Syndrome 6 48 7.250
170
HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 40 7.250
171
c BLC008 Bile Acid Synthesis Defect, Congenital, 2 49 7.250
172
BDD001 Budd-Chiari Syndrome 62 7.250
173
c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45 7.250
174
c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 41 7.250
175
c CNG413 Congenital Short Bowel Syndrome 42 7.250
176
c BTT014 Beta-Thalassemia 72 7.250
177
P PRC031 Preeclampsia/eclampsia 1 43 7.250
178
FRC011 Fructose Intolerance, Hereditary 55 7.250
179
P INT099 Intrahepatic Cholestasis of Pregnancy 61 7.250
180
P ANP001 Anaplastic Large Cell Lymphoma 59 7.250
181
P PLY014 Polycystic Kidney Disease 71 7.250
182
HPT046 Hepatic Veno-Occlusive Disease 54 7.250
183
HPT019 Hepatic Encephalopathy 59 7.250
184
c HPT015 Hepatitis D 49 7.250
185
CHL068 Cholestasis 61 7.250
186
c HMC009 Hemochromatosis Type 2 58 7.250
187
KLT001 Klatskin's Tumor 45 7.250
188
P GLL018 Gallbladder Cancer 59 7.250
189
P SCL009 Sclerosing Cholangitis 46 7.250
190
HPT014 Hepatorenal Syndrome 49 7.250
191
c VRL010 Viral Hepatitis 52 7.250
192
TYP007 Typhoid Fever 63 7.250
193
IGG001 Iga Glomerulonephritis 50 7.250
194
P BLD036 Bile Duct Disease 43 7.250
195
PRT013 Portal Hypertension 59 7.250
196
c HPT003 Hepatitis a 63 7.250
197
P HRD008 Hereditary Hemorrhagic Telangiectasia 64 7.250
198
P NMN002 Niemann-Pick Disease 60 7.250
199
HPT022 Hepatoblastoma 54 7.250
200
c HPT007 Hepatitis E 50 7.250
201
URC002 Urea Cycle Disorder 51 7.250
202
VRL011 Viral Infectious Disease 60 7.250
203
AMB001 Amebiasis 56 7.250
204
YLL002 Yellow Fever 61 7.250
205
P ZLL001 Zellweger Syndrome 65 7.250
206
GST050 Gastrointestinal System Disease 55 7.250
207
CRY036 Cryptogenic Cirrhosis 36 7.250
208
ZLL011 Zellweger Spectrum Disorder 45 7.250
209
P RRH023 Rare Hereditary Hemochromatosis 52 7.250
210
MLR004 Malaria 77 6.250
211
NRT006 North American Indian Childhood Cirrhosis 38 6.250
212
c ALP101 Alpha-Thalassemia 62 6.250
213
ZLL002 Zollinger-Ellison Syndrome 55 6.250
214
c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44 6.250
215
TRN021 Transaldolase Deficiency 43 6.250
216
HPT067 Hepatocellular Adenoma 42 6.250
217
c PRT132 Protoporphyria, Erythropoietic, 1 61 6.250
218
c PSR023 Psoriasis 1 52 6.250
219
P RHM011 Rheumatoid Arthritis 81 6.250
220
P BLR024 Biliary Cirrhosis, Primary, 1 27 6.250
221
c WLM013 Wilms Tumor 1 65 6.250
222
P CLC063 Celiac Disease 1 65 6.250
223
ARG002 Argininosuccinic Aciduria 61 6.250
224
CTR172 Citrullinemia, Classic 64 6.250
225
P IGN003 Iga Nephropathy 1 39 6.250
226
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 6.250
227
c TYP009 Type 2 Diabetes Mellitus 91 6.250
228
P SRC025 Sarcoidosis 1 70 6.250
229
c GLY007 Glycogen Storage Disease Iv 58 6.250
230
c MTC063 Mitochondrial Dna Depletion Syndrome 3 51 6.250
231
P PRP003 Porphyria Cutanea Tarda 66 6.250
232
DHY010 Dihydrolipoamide Dehydrogenase Deficiency 48 6.250
233
P MCK013 Meckel Syndrome, Type 1 64 6.250
234
c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56 6.250
235
P GLC113 Galactosemia I 65 6.250
236
GST009 Gastroschisis 53 6.250
237
c GCH015 Gaucher Disease, Type I 67 6.250
238
c GLY060 Glycogen Storage Disease Ia 62 6.250
239
c GLY016 Glycogen Storage Disease Ib 41 6.250
240
c GLY008 Glycogen Storage Disease Ii 72 6.250
241
c GLY003 Glycogen Storage Disease Iii 60 6.250
242
RFS006 Refsum Disease, Classic 63 6.250
243
c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 65 6.250
244
ATX049 Ataxia with Vitamin 3 Deficiency 52 6.250
245
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 6.250
246
PTN004 Patent Ductus Venosus 31 6.250
247
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 6.250
248
c CNG189 Congenital Disorder of Glycosylation, Type Ib 40 6.250
249
GRC001 Gracile Syndrome 48 6.250
250
P CTR177 Citrullinemia, Type Ii, Adult-Onset 56 6.250
251
AGM019 Agammaglobulinemia, X-Linked 71 6.250
252
SCH036 Scheie Syndrome 73 6.250
253
c JVN061 Juvenile Arthritis 56 6.250
254
DSS032 Disease by Infectious Agent 55 6.250
255
INT017 Intestinal Schistosomiasis 51 6.250
256
RYN003 Reynolds Syndrome 46 6.250
257
c CNG504 Congenital Disorder of Glycosylation, Type Iip 38 6.250
258
c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 39 6.250
259
HYP873 Hypercholanemia, Familial, 2 23 6.250
260
c CNG497 Congenital Disorder of Glycosylation, Type Iio 40 6.250
261
P PNC035 Pancreatic Cancer 87 6.250
262
ABT001 Abetalipoproteinemia 68 6.250
263
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 6.250
264
P SHR074 Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly 60 6.250
265
P ATX030 Ataxia-Telangiectasia 80 6.250
266
CHL073 Cholestasis-Lymphedema Syndrome 40 6.250
267
c CNG415 Congenital Disorder of Glycosylation, Type Ia 58 6.250
268
P LNG032 Lung Cancer 98 6.250
269
P HYP750 Hypertriglyceridemia, Familial 61 6.250
270
KPS004 Kaposi Sarcoma 76 6.250
271
PRP083 Porphyria, Acute Intermittent 64 6.250
272
P HYP058 Hypervitaminosis a 47 6.250
273
MYL005 Myelofibrosis 70 6.250
274
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55 6.250
275
PHN003 Phenylketonuria 76 6.250
276
CRL006 Caroli Disease, Isolated 32 6.250
277
PLY105 Polycystic Ovary Syndrome 1 39 6.250
278
GST019 Gastrointestinal Stromal Tumor 78 6.250
279
c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38 6.250
280
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 6.250
281
c LKM063 Leukemia, Chronic Myeloid 70 6.250
282
c DRR009 Diarrhea 6 46 6.250
283
CMB026 Combined Oxidative Phosphorylation Deficiency 12 47 6.250
284
c CNG411 Congenital Disorder of Glycosylation, Type in 66 6.250
285
P DNG005 Dengue Virus 55 6.250
286
c BLC011 Bile Acid Synthesis Defect, Congenital, 3 38 6.250
287
P ASP006 Aspergillosis 71 6.250
288
c ATR087 Atrial Standstill 1 74 6.250
289
BRK010 Burkitt Lymphoma 65 6.250
291
CRR016 Cirrhosis, Familial 23 6.250
292
CMR002 Coumarin Resistance 59 6.250
293
RNL051 Renal Cysts and Diabetes Syndrome 58 6.250
294
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 53 6.250
295
ALG016 Alagille Syndrome 2 34 6.250
296
P ADL017 Adult T-Cell Leukemia 53 6.250
297
P BND020 Bone Disease 60 6.250
298
HPT079 Hepatoid Adenocarcinoma 39 6.250
299
P RSP003 Respiratory Failure 73 6.250
300
CRL004 Caroli Disease 46 6.250
301
BRR014 Barrett Esophagus 66 6.250
302
P SHR001 Short Bowel Syndrome 53 6.250
303
P ESS003 Essential Thrombocythemia 68 6.250
304
P GCH001 Gaucher's Disease 69 6.250
305
ACR007 Acromegaly 70 6.250
306
VGN023 Vaginitis 56 6.250
307
CHL067 Cholecystitis 59 6.250
308
CCC001 Coccidioidomycosis 57 6.250
309
P OST001 Osteopetrosis 70 6.250
310
NRN004 Neuroendocrine Tumor 55 6.250
311
P TRN020 Turner Syndrome 67 6.250
312
LPD008 Lipid Metabolism Disorder 61 6.250
313
P BPL003 Bipolar Disorder 56 6.250
314
FBR047 Fibromyalgia 57 6.250
315
P KDN018 Kidney Disease 71 6.250
316
P HRT032 Heart Disease 84 6.250
317
P PLY011 Polycystic Ovary Syndrome 57 6.250
318
CHL039 Choledocholithiasis 37 6.250
319
BTT017 Beta-Thalassemia Major 54 6.250
320
P EPL164 Epilepsy 70 6.250
321
HYP081 Hypolipoproteinemia 49 6.250
322
P AGM001 Agammaglobulinemia 67 6.250
323
HYP005 Hypokalemia 55 6.250
324
PST011 Pustulosis of Palm and Sole 52 6.250
325
GST020 Gastric Antral Vascular Ectasia 40 6.250
326
P CHR012 Chronic Granulomatous Disease 69 6.250
327
ALL029 Allergic Disease 61 6.250
328
P ADL010 Adult Respiratory Distress Syndrome 70 6.250
329
PRT018 Portal Vein Thrombosis 50 6.250
330
RCK004 Rickets 64 6.250
331
KRT002 Keratomalacia 54 6.250
332
CVD001 Covid-19 59 6.250
333
c PRC016 Pre-Eclampsia 64 6.250
334
SCH014 Schistosomiasis 56 6.250
335
CHL050 Cholesterol Ester Storage Disease 30 6.250
336
DNG003 Dengue Disease 65 6.250
337
GT001 Gout 63 6.250
338
P ART022 Arthritis 70 6.250
339
c JVN010 Juvenile Rheumatoid Arthritis 52 6.250
340
MCR004 Macroglobulinemia 48 6.250
341
DSM007 Desmoplastic Small Round Cell Tumor 54 6.250
342
BLR013 Biliary Tract Cancer 43 6.250
343
P PSR002 Psoriasis 63 6.250
344
HPT009 Hepatopulmonary Syndrome 48 6.250
345
CHL045 Choline Deficiency Disease 39 6.250
346
HRP004 Herpes Zoster 60 6.250
347
OST012 Osteoarthritis 77 6.250
348
P INF038 Influenza 68 6.250
349
SZR001 Sezary's Disease 60 6.250
350
CYT018 Cytochrome P450 2d6 Variant 26 6.250
351
GLC036 Glucagonoma 45 6.250
352
P BLR006 Biliary Tract Disease 46 6.250
353
MSL001 Measles 61 6.250
354
CRH001 Crohn's Disease 80 6.250
355
P SCK005 Sickle Cell Disease 56 6.250
356
P ATS324 Autosomal Erythropoietic Protoporphyria 25 6.250
357
P HMP007 Hemophilia 52 6.250
358
PLM052 Pulmonary Arteriovenous Malformation 43 6.250
359
P THL005 Thalassemia 56 6.250
360
PLS002 Peliosis Hepatis 32 6.250
361
c HRD039 Hereditary Amyloidosis 45 6.250
362
HYP056 Hypoglycemia 65 6.250
363
c ALM001 Al Amyloidosis 54 6.250
364
P FML355 Familial Intrahepatic Cholestasis 38 6.250
365
ABD010 Abdominal Wall Defect 37 6.250
366
CRR012 Cirrhotic Cardiomyopathy 22 6.250
367
DPR016 Depression 64 6.250
368
PRC051 Paracetamol Poisoning 29 6.250
369
P PRP056 Porphyria, Acute Hepatic 49 6.000
370
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 27 6.000
371
WTH001 Withdrawal Disorder 47 5.250
372
c ATS007 Autism Spectrum Disorder 71 5.250
373
CNN010 Connective Tissue Benign Neoplasm 44 5.250
374
P OMP004 Omphalocele 47 5.250
375
c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22 5.250
376
c HYP724 Hyperlipoproteinemia, Type Iii 66 5.250
377
SCL056 Sclerosing Cholangitis, Neonatal 33 5.250
378
MLY011 Maleylacetoacetate Isomerase Deficiency 19 5.250
379
TRC123 Trichohepatoneurodevelopmental Syndrome 27 5.250
380
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 5.250
381
DFC004 Deficiency Anemia 74 5.250
382
LTH002 Lathosterolosis 38 5.250
383
PSR001 Psoriatic Arthritis 61 5.250
384
c NMN014 Niemann-Pick Disease, Type C2 49 5.250
385
CRH005 Crohn's Colitis 53 5.250
386
P ATR011 Atrial Fibrillation 66 5.250
387
P CRD119 Cardiac Arrest 68 5.250
388
TRC062 Tricuspid Atresia 54 5.250
389
LYM143 Lymphoma, Non-Hodgkin, Familial 74 5.250
390
SPL004 Splenic Marginal Zone Lymphoma 50 5.250
391
LNG108 Langerhans Cell Histiocytosis 57 5.250
392
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 5.250
393
ABD017 Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 46 5.250
394
P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 41 5.250
395
MTC027 Mitochondrial Trifunctional Protein Deficiency 58 5.250
396
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 40 5.250
397
ALV005 Alveolar Soft Part Sarcoma 61 5.250
398
P MTR004 Maturity-Onset Diabetes of the Young 66 5.250
399
P CTN015 Cutaneous T Cell Lymphoma 48 5.250
400
UMB002 Umbilical Hernia 46 5.250
401
P SLP006 Sleep Apnea 69 5.250
402
PNG002 Pain Agnosia 51 5.250
403
P INF037 Inflammatory Bowel Disease 53 5.250
404
PLM134 Pulmonary Fibrosis, Idiopathic 76 5.250
405
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 5.250
406
P SCH015 Schizophrenia 74 5.250
407
P ALZ034 Alzheimer Disease 87 5.250
408
ATH013 Atherosclerosis Susceptibility 63 5.250
409
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 5.250
410
ACY009 Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of 58 5.250
411
RGH009 Right Atrial Isomerism 57 5.250
412
P ATS364 Autism 72 5.250
413
CRN041 Carnitine-Acylcarnitine Translocase Deficiency 48 5.250
414
VRC005 Varicose Veins 59 5.250
415
VNH007 Von Hippel-Lindau Syndrome 72 5.250
416
ALS001 Alstrom Syndrome 65 5.250
417
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 5.250
418
P PRS040 Prostate Cancer 95 5.250
419
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50 5.250
420
LYM133 Lymphoma, Hodgkin, Classic 69 5.250
421
PPL049 Papillon-Lefevre Syndrome 65 5.250
422
LGH007 Leigh Syndrome 70 5.250
423
OCL069 Ocular Motor Apraxia 57 5.250
424
NPH091 Nephrolithiasis, Calcium Oxalate 61 5.250
425
PLY150 Polykaryocytosis Inducer 29 5.250
426
c PRP091 Porphyria Cutanea Tarda, Type I 30 5.250
427
P PRD006 Prader-Willi Syndrome 60 5.250
428
CPR004 Coproporphyria, Hereditary 57 5.250
429
P CRY007 Cryoglobulinemia, Familial Mixed 48 5.250
430
P BCK002 Beckwith-Wiedemann Syndrome 61 5.250
431
FCT001 Factor Viii Deficiency 61 5.250
432
CRC014 Carcinoid Tumors, Intestinal 46 5.250
433
CRB186 Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due to 50 5.250
434
P HYP768 Hyperlipoproteinemia, Type I 67 5.250
435
P MPL001 Maple Syrup Urine Disease 69 5.250
436
c MCP052 Mucopolysaccharidosis, Type Vi 67 5.250
437
MYC079 Myoclonic Epilepsy of Lafora 63 5.250
438
FCT003 Factor X Deficiency 54 5.250
439
FNC009 Fanconi-Bickel Syndrome 53 5.250
440
HMC038 Hemochromatosis, Neonatal 33 5.250
441
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64 5.250
442
c MCP050 Mucopolysaccharidosis, Type Ii 73 5.250
443
c MJR008 Major Affective Disorder 2 34 5.250
444
c ORF037 Orofaciodigital Syndrome I 59 5.250
445
PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 24 5.250
446
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 5.250
447
PRP082 Porphyria, Congenital Erythropoietic 56 5.250
448
ALV007 Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins 48 5.250
449
PYR041 Pyruvate Kinase Deficiency of Red Cells 56 5.250
450
c INF071 Inflammatory Bowel Disease 1 65 5.250
451
RHB024 Rhabdomyosarcoma 2 65 5.250
452
P CLR023 Colorectal Cancer 100 5.250
453
IRN008 Iron Overload in Africa 50 5.250
454
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 5.250
455
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 5.250
456
SCK003 Sickle Cell Anemia 74 5.250
457
P MCR129 Microvascular Complications of Diabetes 1 67 5.250
458
c PSR017 Psoriasis 2 53 5.250
459
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 5.250
460
RHY001 Rhyns Syndrome 42 5.250
461
BLD063 Bile Duct Cysts 42 5.250
462
c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47 5.250
463
IMM140 Immunodeficiency 47 56 5.250
464
ART002 Arts Syndrome 66 5.250
465
P NSP012 Nasopharyngeal Carcinoma 60 5.250
466
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 5.250
467
PRT112 Portal Hypertension, Noncirrhotic 29 5.250
468
c MTC182 Mitochondrial Dna Depletion Syndrome 16 25 5.250
469
c GLY001 Glycogen Storage Disease Ix 25 5.250
470
c HYP716 Hypermanganesemia with Dystonia 1 34 5.250
471
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 5.250
472
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 5.250
473
c MTC129 Mitochondrial Dna Depletion Syndrome 15 23 5.250
474
MLC004 Mulchandani-Bhoj-Conlin Syndrome 51 5.250
475
BTY001 Butyrylcholinesterase Deficiency 49 5.250
476
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 5.250
477
P PLM037 Pulmonary Hypertension 69 5.250
478
HRD037 Hardikar Syndrome 25 5.250
479
ARM001 Aromatase Deficiency 54 5.250
480
MSC007 Muscle Hypertrophy 64 5.250
481
GLY015 Glycine N-Methyltransferase Deficiency 40 5.250
482
LYM007 Lymphangioleiomyomatosis 68 5.250
483
CRG004 Crigler-Najjar Syndrome, Type Ii 46 5.250
484
ANR007 Anorexia Nervosa 59 5.250
485
HRL003 Hurler Syndrome 66 5.250
486
PLM129 Pulmonary Disease, Chronic Obstructive 74 5.250
487
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 5.250
488
GCH018 Gaucher Disease, Perinatal Lethal 41 5.250
489
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 5.250
490
HLX001 Helix Syndrome 47 5.250
491
BLC020 Bile Acid Conjugation Defect 1 16 5.250
492
P EXN002 Exanthem 58 5.250
493
P GST047 Gastrointestinal Neuroendocrine Tumor 36 5.250
494
P SHW006 Shwachman-Diamond Syndrome 1 65 5.250
495
c PNC106 Pancreatic Agenesis 1 51 5.250
496
PLM151 Pulmonary Arteriovenous Fistulas 37 5.250
497
c MTC054 Mitochondrial Dna Depletion Syndrome 7 53 5.250
498
c HMP029 Hemophilia a 69 5.250
499
ATR002 Atransferrinemia 50 5.250
500
P JBR020 Joubert Syndrome 1 74 5.250
501
c TYP008 Type 1 Diabetes Mellitus 77 5.250
502
BLS001 Blau Syndrome 68 5.250
503
PCK003 Pick Disease of Brain 70 5.250
504
VRG001 Variegate Porphyria 55 5.250
505
LMY014 Leiomyoma, Uterine 55 5.250
506
HYP774 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome 54 5.250
507
c HYP292 Hypophosphatasia, Infantile 56 5.250
508
IMM167 Immune Deficiency Disease 76 5.250
509
DRR016 Diarrhea 2, with Microvillus Atrophy 55 5.250
510
MYC006 Mycosis Fungoides 64 5.250
511
c NPH019 Nephronophthisis 1 50 5.250
512
HYP781 Hypoascorbemia 52 5.250
513
JJN004 Jejunal Atresia 36 5.250
514
CHY002 Chylomicron Retention Disease 64 5.250
515
c MCL062 Mucolipidosis Ii Alpha/beta 69 5.250
516
MYL069 Myeloma, Multiple 76 5.250
517
P SJG008 Sjogren Syndrome 60 5.250
518
CHN055 Chanarin-Dorfman Syndrome 61 5.250
519
c HMP004 Hemophilia B 68 5.250
520
P LKM062 Leukemia, Acute Lymphoblastic 69 5.250
521
HPT025 Hepatic Lipase Deficiency 47 5.250
522
P MYC007 Myocardial Infarction 69 5.250
523
P MJR001 Major Depressive Disorder 68 5.250
524
JVN004 Juvenile Myelomonocytic Leukemia 66 5.250
525
P MYC084 Mycobacterium Tuberculosis 1 68 5.250
526
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 45 5.250
527
c SHR064 Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly 44 5.250
528
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 5.250
529
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 55 5.250
530
ENC038 Encephalopathy, Progressive, with or Without Lipodystrophy 40 5.250
531
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 5.250
532
LPT014 Leptin Deficiency or Dysfunction 77 5.250
533
LPT006 Leptin Receptor Deficiency 50 5.250
534
VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 49 5.250
535
c JBR026 Joubert Syndrome 15 43 5.250
536
MCN017 Meconium Ileus 52 5.250
537
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 5.250
538
c PRG040 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 52 5.250
539
DBT084 Diabetes Mellitus, Ketosis-Prone 59 5.250
540
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 5.250
541
c PRX047 Peroxisome Biogenesis Disorder 5b 27 5.250
542
MLD001 Melioidosis 67 5.250
543
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 5.250
544
c NRF023 Neurofibromatosis, Type Ii 70 5.250
545
c AMY091 Amyotrophic Lateral Sclerosis 1 87 5.250
546
ADL002 Adult Syndrome 69 5.250
547
ANL011 Anal Canal Carcinoma 38 5.250
548
APN008 Apnea, Obstructive Sleep 66 5.250
549
ATM095 Autoimmune Disease 61 5.250
550
P LKM071 Leukemia, Chronic Lymphocytic 74 5.250
551
P PRK057 Parkinson Disease, Late-Onset 79 5.250
552
P HNT016 Huntington Disease 73 5.250
553
RNL114 Renal Cell Carcinoma, Nonpapillary 79 5.250
554
c HYP836 Hypercholesterolemia, Familial, 1 73 5.250
555
c HYP595 Hypertension, Essential 84 5.250
556
P CNR004 Cone-Rod Dystrophy 2 74 5.250
557
ESP021 Esophageal Cancer 84 5.250
558
P ATT013 Attention Deficit-Hyperactivity Disorder 65 5.250
559
MST024 Mastocytosis, Cutaneous 66 5.250
560
P MLN069 Melanoma, Uveal 59 5.250
561
c PNC108 Pancreatitis, Hereditary 68 5.250
562
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 5.250
563
HMN044 Human Immunodeficiency Virus Type 1 76 5.250
564
FRB001 Farber Lipogranulomatosis 57 5.250
565
c HMC010 Hemochromatosis, Type 3 49 5.250
566
CRV035 Cervical Cancer 72 5.250
567
PRS127 Pearson Marrow-Pancreas Syndrome 51 5.250
568
c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45 5.250
569
CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 64 5.250
570
c CNG197 Congenital Disorder of Glycosylation, Type Ih 41 5.250
571
OVR029 Ovarian Hyperstimulation Syndrome 63 5.250
572
P DST002 Distal Arthrogryposis 63 5.250
573
DFF005 Diffuse Large B-Cell Lymphoma 55 5.250
574
WLD007 Waldenstroem's Macroglobulinemia 59 5.250
575
IDP071 Idiopathic Copper-Associated Cirrhosis 10 5.250
576
THR024 Thrombosis 56 5.250
577
P MTC010 Mitochondrial Dna Depletion Syndrome 46 5.250
578
SCH003 Schizophreniform Disorder 54 5.250
579
ESP002 Esophageal Varix 51 5.250
580
VTM033 Vitamin K Deficiency Bleeding 49 5.250
581
HMN047 Human Cytomegalovirus Infection 59 5.250
582
CHR008 Choroiditis 48 5.250
583
FML035 Familial Hyperlipidemia 54 5.250
584
HMR023 Hemorrhagic Cystitis 43 5.250
585
CLR109 Colorectal Adenocarcinoma 50 5.250
586
QFV001 Q Fever 61 5.250
587
PRL017 Prolymphocytic Leukemia 47 5.250
588
CRY014 Cryptococcal Meningitis 48 5.250
589
AGG012 Aggressive Nk-Cell Leukemia 47 5.250
590
LYM012 Lymphoplasmacytic Lymphoma 50 5.250
591
PRP036 Peripheral T-Cell Lymphoma 52 5.250
592
BLN006 Blind Loop Syndrome 35 5.250
593
HYP060 Hyperinsulinism 53 5.250
594
CLN045 Colonic Benign Neoplasm 48 5.250
595
MYL031 Myeloproliferative Neoplasm 66 5.250
596
THR004 Thrombocytosis 52 5.250
597
INT071 Intestinal Perforation 49 5.250
598
SKN013 Skin Benign Neoplasm 49 5.250
599
P CNT005 Central Nervous System Lymphoma 51 5.250
600
VCC001 Vaccinia 49 5.250
601
BLR008 Bilirubin Metabolic Disorder 57 5.250
602
P THR015 Thrombophilia 51 5.250
603
P HMN010 Hemangioma 61 5.250
604
c ACT071 Acute Kidney Failure 60 5.250
605
PRT002 Paratyphoid Fever 54 5.250
606
IDP011 Idiopathic Interstitial Pneumonia 59 5.250
607
ACL001 Acalculous Cholecystitis 34 5.250
608
HRY003 Hairy Cell Leukemia 53 5.250
609
BLD051 Blood Coagulation Disease 52 5.250
610
ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44 5.250
611
P LMY004 Leiomyosarcoma 62 5.250
612
CRB037 Cerebral Palsy 66 5.250
613
HMS001 Hemosiderosis 48 5.250
614
P SPN046 Spinal Muscular Atrophy 62 5.250
615
EXC002 Exocrine Pancreatic Insufficiency 42 5.250
616
P DRR001 Diarrhea 55 5.250
617
BCT022 Bacterial Infectious Disease 55 5.250
618
GST071 Gastrointestinal Carcinoma 46 5.250
619
ANL018 Analbuminemia 53 5.250
620
MNC019 Monocarboxylate Transporter 1 Deficiency 46 5.250
621
ANG046 Angioimmunoblastic T-Cell Lymphoma 50 5.250
622
P CHR285 Chronic Myelomonocytic Leukemia 59 5.250
623
CNS002 Constrictive Pericarditis 39 5.250
624
P PYL005 Pyelonephritis 56 5.250
625
P ALC033 Alcohol Use Disorder 67 5.250
626
P ECL001 Eclampsia 52 5.250
627
INT253 Intestinal Benign Neoplasm 46 5.250
628
P END047 Endophthalmitis 53 5.250
629
BRN004 Brain Edema 54 5.250
630
P CRV031 Cervical Adenocarcinoma 48 5.250
631
SMT003 Somatostatinoma 52 5.250
632
P MLG074 Malignant Mesenchymoma 40 5.250
633
P PRP019 Peripheral Nervous System Disease 57 5.250
634
NTR005 Nutritional Deficiency Disease 60 5.250
635
ISC004 Ischemia 61 5.250
636
NPH009 Nephrolithiasis 54 5.250
637
HYP063 Hypersplenism 51 5.250
638
CNN005 Connective Tissue Disease 66 5.250
639
P INT068 Intestinal Disease 53 5.250
640
GST030 Gastrinoma 45 5.250
641
GRN009 Granulomatous Hepatitis 34 5.250
642
IRN002 Iron Metabolism Disease 56 5.250
643
PLM022 Pulmonary Valve Insufficiency 45 5.250
644
P CND004 Candidiasis 57 5.250
645
IRN001 Iron Deficiency Anemia 58 5.250
646
PNC008 Pancreatic Endocrine Carcinoma 39 5.250
647
ISL001 Islet Cell Tumor 55 5.250
648
P ESP024 Esophagitis 60 5.250
649
P OBS001 Obstructive Jaundice 49 5.250
650
SPS003 Spastic Diplegia 52 5.250
651
BRC012 Brucellosis 66 5.250
652
LCH001 Leech Infestation 37 5.250
653
KLB003 Klebsiella Pneumonia 49 5.250
654
P PRP029 Porphyria 60 5.250
655
P PLY019 Polyneuropathy 52 5.250
656
SVR001 Severe Acute Respiratory Syndrome 68 5.250
657
OPT003 Opiate Dependence 49 5.250
658
PNC034 Pancreas Disease 49 5.250
659
P KDN017 Kidney Cancer 60 5.250
660
P CPL006 Capillary Hemangioma 53 5.250
661
CNS004 Constipation 56 5.250
662
CVR006 Cavernous Hemangioma 51 5.250
663
SPN035 Spindle Cell Sarcoma 51 5.250
664
INS001 Insulinoma 59 5.250
665
GST049 Gastrointestinal System Cancer 49 5.250
666
PNC129 Pancreatic Adenocarcinoma 64 5.250
667
FNG017 Fungal Infectious Disease 54 5.250
668
P PTT006 Pituitary Adenoma 55 5.250
669
HMT002 Hematologic Cancer 61 5.250
670
CYS014 Cystadenocarcinoma 51 5.250
671
GNG013 Gingivitis 59 5.250
672
SCR009 Scirrhous Adenocarcinoma 28 5.250
673
PPL001 Papillary Adenoma 44 5.250
674
CRB009 Cerebritis 43 5.250
675
APP009 Appendix Adenocarcinoma 47 5.250
676
P PNC044 Pancreatitis 61 5.250
677
c ACT027 Acute Pancreatitis 60 5.250
678
P SBS003 Substance Abuse 54 5.250
679
BLD019 Bile Duct Cystadenocarcinoma 34 5.250
680
GLC008 Glucose Metabolism Disease 40 5.250
681
HYP066 Hyperglycemia 60 5.250
682
P HYP061 Hypertrophic Cardiomyopathy 68 5.250
683
P GRV001 Graves' Disease 54 5.250
684
GST033 Gestational Diabetes 60 5.250
685
PRD004 Prediabetes Syndrome 52 5.250
686
PRT038 Protein-Energy Malnutrition 53 5.250
687
INT060 Intestinal Atresia 40 5.250
688
GLC003 Glucose Intolerance 53 5.250
689
FLR002 Filariasis 55 5.250
690
TTN003 Tetanus 64 5.250
691
P NPH005 Nephronophthisis 59 5.250
692
NWB001 Newborn Respiratory Distress Syndrome 56 5.250
693
NSP002 Nasopharyngitis 45 5.250
694
PRG008 Paragonimiasis 37 5.250
695
TXC005 Toxic Shock Syndrome 61 5.250
696
P THR014 Thrombocytopenia 66 5.250
697
MNT002 Mental Depression 56 5.250
698
PLS007 Plasmodium Falciparum Malaria 52 5.250
699
ORL005 Oral Candidiasis 55 5.250
700
P CRD246 Cardiovascular System Disease 55 5.250
701
PLS006 Plasmodium Vivax Malaria 51 5.250
702
PRS030 Persistent Fetal Circulation Syndrome 46 5.250
703
P DMN002 Dementia 65 5.250
704
SRC014 Sarcoma 64 5.250
705
CYS005 Cysticercosis 60 5.250
706
LYM009 Lymphocytic Choriomeningitis 46 5.250
707
CMM004 Common Variable Immunodeficiency 71 5.250
708
DYS015 Dysentery 49 5.250
709
HPT004 Hepatic Coma 43 5.250
710
TLN003 Telangiectasis 51 5.250
711
c SVR005 Severe Pre-Eclampsia 49 5.250
712
OCL022 Ocular Melanoma 54 5.250
713
PRC013 Pericarditis 53 5.250
714
P MLN008 Melanoma 75 5.250
715
SCB001 Scabies 49 5.250
716
P SLP005 Sleep Disorder 61 5.250
717
P HML002 Hemolytic Anemia 62 5.250
718
c INH020 Inherited Metabolic Disorder 47 5.250
719
PNC041 Pancreatic Ductal Adenocarcinoma 51 5.250
720
TXC002 Toxic Encephalopathy 51 5.250
721
P LCT001 Lactic Acidosis 50 5.250
722
GLL017 Gallbladder Adenocarcinoma 42 5.250
723
LNG031 Lung Benign Neoplasm 51 5.250
724
PLC008 Placenta Disease 48 5.250
725
ILS001 Ileus 49 5.250
726
P RBL001 Rubella 58 5.250
727
P TYR004 Tyrosinemia 49 5.250
728
P DBT009 Diabetes Mellitus 67 5.250
729
PRX001 Peroxisomal Disease 46 5.250
730
PLM033 Pulmonary Embolism 58 5.250
731
SKN019 Skin Melanoma 70 5.250
732
P SDR003 Sideroblastic Anemia 49 5.250
733
ULC004 Ulcerative Colitis 74 5.250
734
ACT058 Active Peptic Ulcer Disease 55 5.250
735
PPT005 Peptic Ulcer Disease 58 5.250
736
P MSC003 Muscular Atrophy 52 5.250
737
END086 End Stage Renal Disease 54 5.250
738
APP008 Appendicitis 62 5.250
739
P PLY018 Polycythemia 56 5.250
740
RTC005 Reticulosarcoma 47 5.250
741
CHR066 Chronic Fatigue Syndrome 59 5.250
742
P NGH001 Night Blindness 52 5.250
743
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 42 5.250
744
P CHL066 Cholangitis 51 5.250
745
P PRM011 Primary Ciliary Dyskinesia 68 5.250
746
P NRV007 Nervous System Disease 65 5.250
747
GST039 Gastroduodenitis 37 5.250
748
SBC016 Subacute Delirium 42 5.250
749
P LPS004 Lupus Erythematosus 61 5.250
750
DDN006 Duodenitis 49 5.250
751
CHC001 Chickenpox 56 5.250
752
P HYP098 Hypereosinophilic Syndrome 66 5.250
753
ACD003 Acid Sphingomyelinase Deficiency 30 5.250
754
ATX019 Ataxia with Vitamin E Deficiency 44 5.250
755
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 5.250
756
c CHR684 Chronic Kidney Disease 73 5.250
757
P HYP076 Hyperthyroidism 53 5.250
758
FTZ002 Fitz-Hugh-Curtis Syndrome 19 5.250
759
GRN017 Granulocytopenia 42 5.250
760
HPR003 Heparin-Induced Thrombocytopenia 47 5.250
761
IDP033 Idiopathic Edema 41 5.250
762
c LKM005 Leukemia, T-Cell, Chronic 33 5.250
763
BCK006 Back Pain 43 5.250
764
LPD009 Lipid Storage Disease 45 5.250
765
P DBT005 Diabetes Insipidus 54 5.250
766
ATN005 Autonomic Dysfunction 45 5.250
767
c PRM038 Primary Agammaglobulinemia 47 5.250
768
PRM226 Primary Central Nervous System Lymphoma 47 5.250
769
RFS003 Refsum Disease, Infantile Form 27 5.250
770
P AMY004 Amyloidosis 69 5.250
771
c BCT013 Bacterial Pneumonia 47 5.250
772
CTS005 Catastrophic Antiphospholipid Syndrome 43 5.250
773
CRC006 Carcinoid Syndrome 55 5.250
774
INT075 Intracranial Hypertension 52 5.250
775
PPC001 Pepck 1 Deficiency 35 5.250
776
IRR002 Irritable Bowel Syndrome 64 5.250
777
LNG015 Lingual-Facial-Buccal Dyskinesia 47 5.250
778
GRW007 Growth Hormone Deficiency 47 5.250
779
KLB004 Klebsiella Infection 26 5.250
780
NNT017 Neonatal Adrenoleukodystrophy 51 5.250
781
PHS018 Phosphorylase Kinase Deficiency 37 5.250
782
AMY005 Amyloid Neuropathy 31 5.250
783
c GLY023 Glycogen Storage Disease Type 0 27 5.250
784
c CHR464 Chronic Intestinal Failure 25 5.250
785
PRN071 Parenteral Nutrition-Associated Cholestasis 23 5.250
786
CHL076 Chilaiditi Syndrome 18 5.250
787
c CHR417 Chronic Graft Versus Host Disease 55 5.250
788
GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 38 5.250
789
P TRM003 Tremor 50 5.250
790
PST046 Post-Transplant Lymphoproliferative Disease 53 5.250
791
VRL017 Viral Hemorrhagic Fever 35 5.250
792
P ENC018 Encephalopathy 62 5.250
793
PLM186 Pulmonary Arterial Hypertension Associated with Portal Hypertension 25 5.250
794
c SCN059 Secondary Sclerosing Cholangitis 22 5.250
795
HPT066 Hepatoportal Sclerosis 21 5.250
796
P OVR082 Overgrowth Syndrome 41 5.250
797
OST062 Osteoarthritis with Mild Chondrodysplasia 46 5.000
798
c PSR028 Psoriasis 7 42 5.000
799
c PSR018 Psoriasis 13 40 5.000
800
c NPH069 Nephronophthisis 15 43 5.000
801
c PSR032 Psoriasis 11 47 5.000
802
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 4.250
803
c JBR015 Joubert Syndrome 6 45 4.250
804
NTR007 Neutral Lipid Storage Disease with Myopathy 42 4.250
805
c MJR022 Major Affective Disorder 8 37 4.250
806
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 4.250
807
CMB087 Combined Oxidative Phosphorylation Deficiency 37 23 4.250
808
RSP027 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 47 4.250
809
TRK001 Triokinase and Fmn Cyclase Deficiency Syndrome 19 4.250
810
PRT251 Proteinuria, Chronic Benign 58 4.250
811
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 4.250
812
P CRN300 Coronary Heart Disease 1 73 4.250
813
c SPN096 Spinocerebellar Ataxia 21 40 4.250
815
SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 36 4.250
816
ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 36 4.250
817
MYL009 Myelodysplastic Syndrome 67 4.250
818
TCL002 T-Cell Large Granular Lymphocyte Leukemia 48 4.250
819
c HMC035 Hemochromatosis, Type 4 52 4.250
820
P CPL014 Capillary Malformation-Arteriovenous Malformation 1 53 4.250
821
P APL001 Aplastic Anemia 72 4.250
822
ASC010 Ascaris Lumbricoides Infection 49 4.250
823
c PRM108 Primary Progressive Multiple Sclerosis 51 4.250
824
PRP001 Propionic Acidemia 65 4.250
825
P LYM118 Lymphoma 66 4.250
826
ING001 Inguinal Hernia 59 4.250
827
DNG001 Dengue Shock Syndrome 40 4.250
828
ASP007 Aspiration Pneumonia 49 4.250
829
HYP003 Hypermethioninemia 51 4.250
830
ART140 Arteries, Anomalies of 52 4.250
831
c ART115 Aortic Valve Disease 1 72 4.250
832
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 4.250
833
ACY010 Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency of 63 4.250
834
c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 33 4.250
835
IMM166 Immunodeficiency 27a 58 4.250
836
VSC063 Vasculopathy, Retinal, with Cerebral Leukoencephalopathy and Systemic Manifestations 57 4.250
837
AFB002 Afibrinogenemia, Congenital 63 4.250
838
ALK013 Alkaptonuria 58 4.250
839
TNG002 Tangier Disease 63 4.250
840
CRB011 Cerebrotendinous Xanthomatosis 64 4.250
841
LPM012 Lipomatosis, Multiple 59 4.250
842
c SYS001 Systemic Lupus Erythematosus 85 4.250
843
c MYT021 Myotonic Dystrophy 1 67 4.250
844
P OST002 Osteoporosis 76 4.250
845
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 4.250
846
c MGR028 Migraine with or Without Aura 1 63 4.250
847
P OVR042 Ovarian Cancer 88 4.250
848
PPL048 Papillorenal Syndrome 58 4.250
849
DNB001 Danubian Endemic Familial Nephropathy 42 4.250
850
P MJR007 Major Affective Disorder 1 42 4.250
851
FLT011 Felty Syndrome 51 4.250
852
DSM003 Desmoid Disease, Hereditary 49 4.250
853
c PLM164 Pulmonary Hypertension, Primary, 1 75 4.250
854
P RTN024 Retinoblastoma 72 4.250
855
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 4.250
856
JHN001 Johanson-Blizzard Syndrome 52 4.250
857
IMM154 Immunoglobulin a Deficiency 1 45 4.250
858
HRN026 Hernia, Hiatus 46 4.250
859
CRD223 Cardiac Arrhythmia 63 4.250
860
MGC002 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 50 4.250
861
MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 50 4.250
862
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 4.250
863
P TMP003 Temporal Arteritis 68 4.250
864
c THR090 Thrombocythemia 1 50 4.250
865
EPP024 Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus 55 4.250
866
c FNC027 Fanconi Anemia, Complementation Group a 80 4.250
867
c GLC112 Galactosemia Iii 51 4.250
868
c GM1005 Gm1-Gangliosidosis, Type Ii 50 4.250
869
c GCH016 Gaucher Disease, Type Ii 53 4.250
870
ACH022 Achalasia-Addisonianism-Alacrima Syndrome 64 4.250
871
c GLY017 Glycogen Storage Disease Ic 30 4.250
872
MNK001 Menkes Disease 64 4.250
873
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 36 4.250
874
MYP136 Myopathy, Centronuclear, X-Linked 58 4.250
875
c PNS012 Paine Syndrome 60 4.250
876
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 4.250
877
ALC007 Alcohol Dependence 65 4.250
878
c SPN225 Spondyloarthropathy 1 70 4.250
879
GST092 Gastroesophageal Reflux 59 4.250
880
P BLD134 Bladder Cancer 79 4.250
881
PLY158 Polyglucosan Body Neuropathy, Adult Form 39 4.250
882
c TYR011 Tyrosinemia, Type Iii 41 4.250
883
c MSM022 Mismatch Repair Cancer Syndrome 1 69 4.250
884
ADR007 Adrenoleukodystrophy 73 4.250
885
DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 40 4.250
886
IMM106 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked 66 4.250
887
P CRB154 Cerebrocostomandibular Syndrome 55 4.250
888
P BRS047 Breast Cancer 97 4.250
889
P MLT020 Multiple Sclerosis 79 4.250
890
STR067 Stroke, Ischemic 79 4.250
891
c MTC061 Mitochondrial Dna Depletion Syndrome 1 49 4.250
892
ACR041 Acromelic Frontonasal Dysostosis 53 4.250
893
OVR112 Ovarian Germ Cell Cancer 41 4.250
894
c HYP272 Hypercholesterolemia, Familial, 3 46 4.250
895
c SYS043 Systemic Lupus Erythematosus 1 38 4.250
896
c MCK031 Meckel Syndrome, Type 2 47 4.250
897
ACT088 Acute Insulin Response 39 4.250
898
c LKM061 Leukemia, Acute Myeloid 83 4.250
899
c HMC021 Hemochromatosis, Type 2a 42 4.250
900
HMC014 Homocysteinemia 52 4.250
901
BRT054 Brittle Bone Disorder 74 4.250
902
DBF001 D-Bifunctional Protein Deficiency 55 4.250
903
SBL008 Sea-Blue Histiocyte Disease 42 4.250
904
ADR023 Adrenomyodystrophy 32 4.250
905
URG005 Uruguay Faciocardiomusculoskeletal Syndrome 36 4.250
906
TSY002 Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations 52 4.250
907
PRT094 Protoporphyria, Erythropoietic, X-Linked 28 4.250
908
GRN051 Granulomatous Disease, Chronic, X-Linked 57 4.250
909
AGN016 Aging 53 4.250
910
PRG017 Paraganglioma and Gastric Stromal Sarcoma 63 4.250
911
HRL004 Hurler-Scheie Syndrome 58 4.250
912
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 4.250
913
P PTN014 Patent Ductus Arteriosus 1 59 4.250
914
ANX010 Anxiety 70 4.250
915
c NPH077 Nephronophthisis 19 40 4.250
916
c DVL099 Developmental and Epileptic Encephalopathy 75 27 4.250
917
LPP008 Lipoprotein Quantitative Trait Locus 65 4.250
918
PRP027 Peripheral Vascular Disease 71 4.250
919
P HMP002 Hemophagocytic Lymphohistiocytosis 60 4.250
920
P FML011 Familial Adenomatous Polyposis 70 4.250
921
P RST001 Restless Legs Syndrome 52 4.250
922
P FML012 Familial Partial Lipodystrophy 54 4.250
923
HYP025 Hyperphosphatemia 47 4.250
924
P CRN323 Cranioectodermal Dysplasia 58 4.250
925
c CNG012 Congenital Generalized Lipodystrophy 65 4.250
926
TNS007 Taeniasis 46 4.250
927
MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 37 4.250
928
c MJR006 Major Affective Disorder 5 32 4.250
929
INT323 Intraocular Pressure Quantitative Trait Locus 63 4.250
930
c MTC059 Mitochondrial Dna Depletion Syndrome 5 49 4.250
931
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 4.250
932
c MJR024 Major Affective Disorder 9 40 4.250
933
c MCR133 Microvascular Complications of Diabetes 4 41 4.250
934
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 46 4.250
935
HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 34 4.250
936
c BLC016 Bile Acid Synthesis Defect, Congenital, 5 30 4.250
937
c JBR035 Joubert Syndrome 24 45 4.250
938
P STR092 Striatal Degeneration, Autosomal Dominant 2 44 4.250
939
LNG105 Lung Disease, Immunodeficiency, and Chromosome Breakage Syndrome 36 4.250