Search results for chenodeoxycholic acid

446 hits were found for chenodeoxycholic acid

# Family MCID Name MIFTS Score
1
c BLC008 Bile Acid Synthesis Defect, Congenital, 2 49 37.949
2
c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45 35.041
3
BLC012 Bile Acid Malabsorption, Primary 45 29.656
4
LPD008 Lipid Metabolism Disorder 61 27.064
5
c CNG002 Congenital Bile Acid Synthesis Defect 33 26.023
6
RFS006 Refsum Disease, Classic 63 25.732
7
CHL068 Cholestasis 61 23.493
8
GST092 Gastroesophageal Reflux 59 23.131
9
c GLL024 Gallbladder Disease 1 53 22.477
10
NNL005 Non-Alcoholic Fatty Liver Disease 63 21.358
11
FTT001 Fatty Liver Disease 61 20.196
12
RPD005 Rapidly Involuting Congenital Hemangioma 48 19.804
13
c PRX045 Peroxisome Biogenesis Disorder 1b 61 18.989
14
HYP781 Hypoascorbemia 52 18.357
15
P LVR013 Liver Disease 68 18.069
16
LVR012 Liver Cirrhosis 62 17.761
17
P DSR081 Disorder of Bile Acid Synthesis 19 17.450
18
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 17.413
19
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 17.290
20
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 17.289
21
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 17.289
22
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 17.289
23
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 17.289
24
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 17.289
25
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 17.289
26
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 17.289
27
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 17.284
28
c TYP009 Type 2 Diabetes Mellitus 91 16.969
29
PRM236 Primary Biliary Cholangitis 62 16.607
30
P HYP750 Hypertriglyceridemia, Familial 61 15.749
31
GT001 Gout 63 15.589
32
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 15.299
33
CRB011 Cerebrotendinous Xanthomatosis 64 15.079
34
OST012 Osteoarthritis 77 14.788
35
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 14.567
36
CLT003 Colitis 63 14.509
37
P NRB001 Neuroblastoma 66 14.250
38
HLX001 Helix Syndrome 47 14.200
39
P DRR001 Diarrhea 55 14.186
40
P SZR006 Seizure Disorder 69 13.315
41
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 13.252
42
XNT003 Xanthomatosis 48 13.245
43
NNL006 Non-Alcoholic Steatohepatitis 54 13.015
44
c HYP836 Hypercholesterolemia, Familial, 1 73 12.837
45
48X005 48,xyyy 39 12.630
46
P CRN300 Coronary Heart Disease 1 73 12.578
47
P CLR023 Colorectal Cancer 100 12.303
48
ATH013 Atherosclerosis Susceptibility 63 12.297
49
P HPT021 Hepatitis 68 12.080
50
ADR007 Adrenoleukodystrophy 73 12.012
51
CHL004 Cholelithiasis 48 12.008
52
HYP066 Hyperglycemia 60 12.005
53
ULC004 Ulcerative Colitis 74 11.971
54
GLL048 Glial Tumor 51 11.930
55
P CHL066 Cholangitis 51 11.927
56
BNR002 Bone Resorption Disease 47 11.913
57
P KDN018 Kidney Disease 71 11.907
58
ISC004 Ischemia 61 11.906
59
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 11.877
60
AGN016 Aging 53 11.822
61
GLM045 Glioma 62 11.822
62
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 11.767
63
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 11.767
64
P OST002 Osteoporosis 76 11.756
65
GLB002 Glioblastoma 67 11.683
66
CYS001 Cystic Fibrosis 77 11.608
67
CRH001 Crohn's Disease 80 11.598
68
c CHR684 Chronic Kidney Disease 73 11.575
69
P GST044 Gastritis 55 11.501
70
KRT002 Keratomalacia 54 11.473
71
P ESP024 Esophagitis 60 11.427
72
HMN044 Human Immunodeficiency Virus Type 1 76 11.212
73
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 11.211
74
PPT005 Peptic Ulcer Disease 58 11.089
75
P HPT023 Hepatocellular Carcinoma 95 11.083
76
P PRS040 Prostate Cancer 95 10.984
77
P ENC018 Encephalopathy 62 10.852
78
P INF038 Influenza 68 10.565
79
P NRP001 Neuropathy 59 10.555
80
IRN002 Iron Metabolism Disease 56 10.518
81
P PSR002 Psoriasis 63 10.477
82
MYL069 Myeloma, Multiple 76 10.346
83
P ALZ034 Alzheimer Disease 87 10.302
84
DRM006 Dermatitis 61 10.122
85
HYP266 Hypoxia 56 10.053
86
P PNC035 Pancreatic Cancer 87 10.033
87
HYP056 Hypoglycemia 65 9.992
88
P ADN016 Adenocarcinoma 63 9.982
89
RCK004 Rickets 64 9.973
90
c ACT027 Acute Pancreatitis 60 9.897
91
P LNG032 Lung Cancer 98 9.860
92
RFS003 Refsum Disease, Infantile Form 27 9.858
93
c INH020 Inherited Metabolic Disorder 47 9.857
94
P EPL164 Epilepsy 70 9.823
95
IMM167 Immune Deficiency Disease 76 9.737
96
P INF037 Inflammatory Bowel Disease 53 9.733
97
PST011 Pustulosis of Palm and Sole 52 9.723
98
P PNC044 Pancreatitis 61 9.698
99
PRT037 Pertussis 49 9.622
100
P ZLL001 Zellweger Syndrome 65 9.536
101
CYT002 Cytokine Deficiency 43 9.527
102
c HPT003 Hepatitis a 63 9.438
103
P BND020 Bone Disease 60 9.416
104
HYP060 Hyperinsulinism 53 9.304
105
P HYP872 Hypercholanemia, Familial 1 32 9.203
106
P VSC007 Vascular Disease 62 9.189
107
P MYP004 Myopathy 67 9.165
108
c ATS007 Autism Spectrum Disorder 71 9.131
109
ADR022 Adrenomyeloneuropathy 38 9.117
110
P ALC033 Alcohol Use Disorder 67 9.057
111
CNS004 Constipation 56 8.978
112
P TRN020 Turner Syndrome 67 8.936
113
c HPT073 Hepatitis C Virus 70 8.907
114
BRR014 Barrett Esophagus 66 8.901
115
P MYC084 Mycobacterium Tuberculosis 1 68 8.888
116
c ACT071 Acute Kidney Failure 60 8.864
117
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 8.832
118
HPT019 Hepatic Encephalopathy 59 8.829
119
IRR002 Irritable Bowel Syndrome 64 8.792
120
47X002 47,xyy 47 8.780
121
GLC003 Glucose Intolerance 53 8.768
122
P GST053 Gastric Cancer 82 8.752
123
HPT004 Hepatic Coma 43 8.676
124
P SCL009 Sclerosing Cholangitis 46 8.671
125
P ATS364 Autism 72 8.644
126
LPT014 Leptin Deficiency or Dysfunction 77 8.611
127
P PRP019 Peripheral Nervous System Disease 57 8.541
128
c CHL119 Cholangitis, Primary Sclerosing 57 8.456
129
c MGR028 Migraine with or Without Aura 1 63 8.407
130
OST159 Osteogenic Sarcoma 66 8.365
131
HRW001 Hair Whorl 35 8.336
132
P DRM053 Dermatitis, Atopic 65 8.317
133
GST023 Gastric Ulcer 52 8.296
134
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 8.287
135
ADN018 Adenoma 58 8.276
136
PRX001 Peroxisomal Disease 46 8.273
137
END086 End Stage Renal Disease 54 8.266
138
P HRP006 Herpes Simplex 65 8.224
139
ESP021 Esophageal Cancer 84 8.205
140
P OVR042 Ovarian Cancer 88 8.200
141
P INT099 Intrahepatic Cholestasis of Pregnancy 61 8.164
142
ANT039 Antisynthetase Syndrome 55 8.089
143
CRV035 Cervical Cancer 72 8.073
144
PRT251 Proteinuria, Chronic Benign 58 8.067
145
SVR001 Severe Acute Respiratory Syndrome 68 8.006
146
P AST005 Asthma 75 8.001
147
c HPT016 Hepatitis B 62 7.982
148
KRT009 Keratosis 52 7.912
149
PRT036 Peritonitis 65 7.898
150
c SML038 Small Cell Cancer of the Lung 68 7.884
151
P URN019 Urinary Tract Infection 48 7.814
152
P CTR002 Cataract 59 7.788
153
PPT001 Peptic Esophagitis 51 7.723
154
CHL014 Cholera 62 7.718
155
BCT022 Bacterial Infectious Disease 55 7.710
156
ADL002 Adult Syndrome 69 7.704
157
P LCT001 Lactic Acidosis 50 7.680
158
P PLY019 Polyneuropathy 52 7.610
159
c MCR120 Microvascular Complications of Diabetes 7 47 7.593
160
c ACT068 Acute Cystitis 60 7.585
161
c SYS001 Systemic Lupus Erythematosus 85 7.572
162
HGH043 High Grade Glioma 46 7.568
163
P THR014 Thrombocytopenia 66 7.555
164
P ATT013 Attention Deficit-Hyperactivity Disorder 65 7.552
165
P MLN008 Melanoma 75 7.516
166
DBF001 D-Bifunctional Protein Deficiency 55 7.509
167
ATM095 Autoimmune Disease 61 7.479
168
c MCR113 Microvascular Complications of Diabetes 3 52 7.460
169
URM002 Uremia 47 7.429
170
PLM129 Pulmonary Disease, Chronic Obstructive 74 7.418
171
P LPS004 Lupus Erythematosus 61 7.404
172
CLN015 Colon Adenocarcinoma 64 7.401
173
P CRD246 Cardiovascular System Disease 55 7.399
174
P OVR082 Overgrowth Syndrome 41 7.383
175
P INF032 Infertility 60 7.314
176
c MCR133 Microvascular Complications of Diabetes 4 41 7.285
177
c MCR130 Microvascular Complications of Diabetes 6 41 7.284
178
P ATR011 Atrial Fibrillation 66 7.186
179
c PCH010 Pachyonychia Congenita 3 43 7.162
180
HYP005 Hypokalemia 55 7.093
181
P HYP086 Hypothyroidism 68 7.089
182
c BLD140 Blood Group, I System 47 7.023
183
P PRK039 Parkinsonism 55 6.998
184
RNL114 Renal Cell Carcinoma, Nonpapillary 79 6.954
185
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 6.919
186
BLR008 Bilirubin Metabolic Disorder 57 6.892
187
P OBS001 Obstructive Jaundice 49 6.831
188
P AMY004 Amyloidosis 69 6.805
189
c ATR087 Atrial Standstill 1 74 6.795
190
MDD011 Mood Disorder 61 6.715
191
THY029 Thyroid Carcinoma 55 6.679
192
P GLM007 Glomerulonephritis 59 6.627
193
P ART021 Arteriosclerosis 53 6.622
194
GST050 Gastrointestinal System Disease 55 6.520
195
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 6.478
196
MCS002 Mucositis 55 6.436
197
P TRM003 Tremor 50 6.422
198
ATS010 Autosomal Recessive Disease 42 6.304
199
SVR004 Severe Combined Immunodeficiency 70 6.165
200
P RSP003 Respiratory Failure 73 6.085
201
P SCK005 Sickle Cell Disease 56 5.993
202
P MSC005 Muscular Dystrophy 66 5.927
203
P EYD002 Eye Disease 57 5.861
204
DSS032 Disease by Infectious Agent 55 5.852
205
ANX004 Anoxia 40 5.843
206
P EXN002 Exanthem 58 5.833
207
CHL065 Cholangiocarcinoma 57 5.790
208
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 5.774
209
INT079 Intrahepatic Cholangiocarcinoma 51 5.765
210
PRP030 Purpura 54 5.758
211
CRV045 Cervical Intraepithelial Neoplasia 38 5.721
212
CRV002 Cervix Uteri Carcinoma in Situ 48 5.720
213
FML035 Familial Hyperlipidemia 54 5.706
214
BLR001 Biliary Atresia 55 5.696
215
P DMN002 Dementia 65 5.677
216
CLR108 Colorectal Adenoma 63 5.658
217
c VRL010 Viral Hepatitis 52 5.627
218
P PLM036 Pulmonary Fibrosis 65 5.609
219
P RTN024 Retinoblastoma 72 5.551
220
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 5.510
221
P KLZ004 Kala-Azar 1 41 5.485
222
LSH001 Leishmaniasis 63 5.485
223
c FML021 Familial Hypercholesterolemia 71 5.447
224
ALL014 Allergic Encephalomyelitis 34 5.371
225
GST045 Gastroenteritis 58 5.350
226
P INT068 Intestinal Disease 53 5.338
227
P SPP010 Suppressor of Tumorigenicity 3 50 5.293
228
HMS001 Hemosiderosis 48 5.253
229
P GRF003 Graft-Versus-Host Disease 71 5.232
230
P SHR001 Short Bowel Syndrome 53 5.224
231
END057 Endometrial Cancer 76 5.218
232
P SYS005 Systemic Scleroderma 73 5.216
233
CHY002 Chylomicron Retention Disease 64 5.201
234
CHL013 Cholecystolithiasis 37 5.179
235
P KDN017 Kidney Cancer 60 5.124
236
PSY004 Psychotic Disorder 66 5.099
237
MDD018 Middle East Respiratory Syndrome 44 5.088
238
RNL077 Renal Fibrosis 46 5.083
239
c PRX059 Peroxisome Biogenesis Disorder 1a 57 5.083
240
P HYP076 Hyperthyroidism 53 5.070
241
P PRS038 Personality Disorder 65 5.015
242
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 5.008
243
LPD009 Lipid Storage Disease 45 4.997
244
ENT011 Enterocolitis 55 4.996
245
c ACT134 Acute Liver Failure 57 4.988
246
MLD018 Mild Cognitive Impairment 48 4.980
247
c LKM005 Leukemia, T-Cell, Chronic 33 4.976
248
HYP555 Hypertriglyceridemia, Transient Infantile 39 4.876
249
P ANP001 Anaplastic Large Cell Lymphoma 59 4.875
250
DDN006 Duodenitis 49 4.840
251
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 4.836
252
CRH005 Crohn's Colitis 53 4.834
253
P RRH023 Rare Hereditary Hemochromatosis 52 4.760
254
SPS057 Spasticity 43 4.747
255
BLR002 Bile Reflux 38 4.740
256
PNC129 Pancreatic Adenocarcinoma 64 4.725
257
P THY032 Thyroiditis 56 4.708
258
ALL006 Allergic Asthma 55 4.704
259
c SCL052 Scleroderma, Familial Progressive 60 4.675
260
P DYS154 Dystonia 64 4.663
261
P PLY014 Polycystic Kidney Disease 71 4.661
262
LPT006 Leptin Receptor Deficiency 50 4.643
263
EXT006 Extrahepatic Cholestasis 41 4.637
264
PLY150 Polykaryocytosis Inducer 29 4.634
265
P FML011 Familial Adenomatous Polyposis 70 4.617
266
TLN003 Telangiectasis 51 4.608
267
DYS073 Dysphagia 53 4.524
268
P MDL005 Medulloblastoma 75 4.495
269
VRC005 Varicose Veins 59 4.492
270
AND005 Androgen Insensitivity Syndrome, Mild 21 4.459
271
c DRR009 Diarrhea 6 46 4.456
272
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 58 4.435
273
PRN019 Perinatal Necrotizing Enterocolitis 60 4.431
274
FDL002 Food Allergy 47 4.404
275
CHL067 Cholecystitis 59 4.345
276
RYS001 Reye Syndrome 49 4.343
277
P END044 Endometriosis 62 4.304
278
P MYC033 Myoclonus 46 4.266
279
GST040 Gastric Adenocarcinoma 66 4.263
280
PRP016 Paraplegia 52 4.247
281
PST092 Posttransplant Acute Limbic Encephalitis 29 4.233
282
PRT013 Portal Hypertension 59 4.216
283
SCH014 Schistosomiasis 56 4.198
284
c ATM011 Autoimmune Hepatitis 62 4.198
285
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 4.197
286
DYS015 Dysentery 49 4.197
287
HPT022 Hepatoblastoma 54 4.191
288
CHG001 Chagas Disease 65 4.182
289
P HML002 Hemolytic Anemia 62 4.148
290
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 4.090
291
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 4.085
292
P BLR024 Biliary Cirrhosis, Primary, 1 27 4.066
293
P LCH002 Lichen Planus 54 4.026
294
PRT038 Protein-Energy Malnutrition 53 3.853
295
VSC003 Visceral Leishmaniasis 54 3.838
296
MST004 Mast Cell Neoplasm 41 3.832
297
EXT007 Extracutaneous Mastocytoma 38 3.828
298
DDN004 Duodenogastric Reflux 31 3.828
299
ATX019 Ataxia with Vitamin E Deficiency 44 3.820
300
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52 3.752
301
CHL039 Choledocholithiasis 37 3.723
302
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55 3.709
303
P HYP838 Hyperlipidemia, Familial Combined, 3 61 3.692
304
HYP081 Hypolipoproteinemia 49 3.685
305
P LKD001 Leukodystrophy 58 3.583
306
P MVM001 Movement Disease 61 3.570
307
PLM134 Pulmonary Fibrosis, Idiopathic 76 3.569
308
P FML355 Familial Intrahepatic Cholestasis 38 3.547
309
ALC006 Alcoholic Hepatitis 61 3.545
310
ASP007 Aspiration Pneumonia 49 3.539
311
P PRN023 Prion Disease 60 3.501
312
P BLR006 Biliary Tract Disease 46 3.500
313
EXC002 Exocrine Pancreatic Insufficiency 42 3.456
314
SPH010 Sphingolipidosis 47 3.440
315
P GLL020 Gallbladder Disease 57 3.412
316
c HNT004 Huntington Disease-Like 2 51 3.345
317
VTM033 Vitamin K Deficiency Bleeding 49 3.337
318
CRC006 Carcinoid Syndrome 55 3.336
319
NNT012 Neonatal Jaundice 53 3.329
320
ZLL011 Zellweger Spectrum Disorder 45 3.322
321
P ICH004 Ichthyosis 56 3.258
322
P VSC018 Visceral Steatosis 32 3.255
323
TYP007 Typhoid Fever 63 3.221
324
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 3.185
325
CHD004 Chudley-Mccullough Syndrome 47 3.170
326
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 3.166
327
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 60 3.120
328
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 3.090
329
LRN003 Learning Disability 49 3.055
330
STN013 Stenotrophomonas Maltophilia Infection 26 3.009
331
ALP103 Alpha-1-Antitrypsin Deficiency 67 3.006
332
P INT070 Intestinal Obstruction 57 2.939
333
PRN071 Parenteral Nutrition-Associated Cholestasis 23 2.937
334
MCR013 Microphthalmia 59 2.933
335
P GRV001 Graves' Disease 54 2.915
336
GLB001 Gilbert Syndrome 53 2.906
337
CLR030 Clear Cell Renal Cell Carcinoma 53 2.888
338
c HRD010 Hereditary Spastic Paraplegia 65 2.819
339
P LRY019 Laryngitis 53 2.819
340
P ATX030 Ataxia-Telangiectasia 80 2.792
341
SPS019 Spastic Paraparesis 38 2.789
342
SHG001 Shigellosis 61 2.771
343
RST023 Resting Heart Rate, Variation in 40 2.735
344
WST001 West Syndrome 64 2.718
345
ATP014 Atp8b1 Deficiency 28 2.718
346
HPT014 Hepatorenal Syndrome 49 2.703
347
GST071 Gastrointestinal Carcinoma 46 2.684
348
SCR003 Secretory Diarrhea 35 2.647
349
ASP008 Aspiration Pneumonitis 43 2.645
350
P ESP035 Esophagitis, Eosinophilic, 1 57 2.643
351
BLD063 Bile Duct Cysts 42 2.641
352
c HYP739 Hyperlipoproteinemia, Type Iv 53 2.591
353
DMP001 Dumping Syndrome 43 2.578
354
ILT001 Ileitis 49 2.559
355
OVR063 Overnutrition 42 2.512
356
TRC123 Trichohepatoneurodevelopmental Syndrome 27 2.478
357
P ALG028 Alagille Syndrome 1 73 2.471
358
c HYP740 Hyperlipoproteinemia, Type V 54 2.456
359
P CHN044 Chondrodysplasia Punctata Syndrome 43 2.415
360
MST020 Mast Cell Activation Syndrome 27 2.398
361
SMT004 Smith-Lemli-Opitz Syndrome 69 2.391
362
P MGR001 Migraine Without Aura 48 2.377
363
P BLD062 Bile Duct Cancer 69 2.356
364
ABT001 Abetalipoproteinemia 68 2.349
365
THY121 Thyroid Gland Anaplastic Carcinoma 66 2.324
366
c OPT051 Opitz Gbbb Syndrome, Type I 45 2.322
367
BLR013 Biliary Tract Cancer 43 2.316
368
P GLL018 Gallbladder Cancer 59 2.271
369
ALC009 Alcoholic Liver Cirrhosis 54 2.257
370
ING001 Inguinal Hernia 59 2.202
371
CLB022 Coloboma, Ocular, Autosomal Recessive 29 2.168
372
P CRB088 Cerebral Atrophy 32 2.146
373
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 36 2.139
374
c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53 2.111
375
P MYT002 Myotonic Dystrophy 51 2.080
376
ECH003 Echinococcosis 52 2.078
377
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 2.048
378
PRM020 Premenstrual Tension 39 1.997
379
CLS016 Clostridium Difficile Colitis 49 1.987
380
HSH003 Hashimoto Thyroiditis 60 1.983
381
BRS050 Breast Cyst 38 1.978
382
c HYP839 Hyperlipidemia, Familial Combined, 1 30 1.961
383
APP015 Apparent Mineralocorticoid Excess 57 1.957
384
ADN075 Adenomyoma 31 1.926
385
GLM044 Glomerular Disease 34 1.909
386
P FML012 Familial Partial Lipodystrophy 54 1.871
387
ALC005 Alcoholic Pancreatitis 38 1.852
388
HMZ003 Homozygous Familial Hypercholesterolemia 60 1.842
389
ART004 Aortic Atherosclerosis 46 1.793
390
c BCT013 Bacterial Pneumonia 47 1.791
391
SKN005 Skin Atrophy 41 1.779
392
P STS003 Sitosterolemia 53 1.777
393
HPT067 Hepatocellular Adenoma 42 1.692
394
NRM022 Neurometabolic Disease 24 1.670
395
CMP002 Campylobacteriosis 50 1.625
396
CLN044 Colon Adenoma 44 1.607
397
BRR002 Barrett's Adenocarcinoma 37 1.574
398
c DYS119 Dystonia 9 54 1.545
399
PHT008 Photosensitive Epilepsy 41 1.521
400
CYS008 Cystic Echinococcosis 57 1.514
401
P PLY006 Polydactyly 58 1.484
402
CRY036 Cryptogenic Cirrhosis 36 1.439
403
P CRG003 Crigler-Najjar Syndrome, Type I 64 1.408
404
LYD001 Leydig Cell Tumor 45 1.397
405
c ANM038 Anemia, Autoimmune Hemolytic 63 1.332
406
CLL021 Collagenous Colitis 41 1.302
407
INT046 Intestinal Tuberculosis 38 1.300
408
TBL029 Tubulin, Beta 28 1.279
409
P CRN025 Corneal Dystrophy 49 1.275
410
P AXN001 Axonal Neuropathy 33 1.257
411
P RRN010 Rare Neurodegenerative Disease 14 1.248
412
c SPS108 Spastic Paraplegia 5a, Autosomal Recessive 42 1.242
413
c SPS039 Spastic Paraplegia 5a 31 1.242
414
PTT001 Pituitary Hypoplasia 34 1.183
415
CRT033 Corticobasal Degeneration 48 1.121
416
OPP004 Oppositional Defiant Disorder 48 1.107
417
ILC002 Ileocolitis 42 1.051
418
GRN009 Granulomatous Hepatitis 34 1.035
419
c HRD026 Hereditary Ataxia 46 1.029
420
APR001 Apraxia 51 1.020
421
KRN001 Korean Hemorrhagic Fever 34 1.008
422
HNT019 Hantavirus Hemorrhagic Fever with Renal Syndrome 44 1.003
423
c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 39 0.988
424
CNZ001 Coenzyme Q10 Deficiency Disease 41 0.872
425
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 0.854
426
c SPS222 Spastic Paraplegia 20, Autosomal Recessive 56 0.831
427
c SPS215 Spastic Paraplegia 3, Autosomal Dominant 63 0.821
428
BLR028 Biliary Atresia, Extrahepatic 36 0.777
429
EST007 Estrogen Resistance 41 0.762
430
c HRD138 Hereditary Motor and Sensory Neuropathy V 32 0.741
431
c SPS036 Spastic Paraplegia 3 32 0.741
432
P SPS008 Spastic Ataxia 41 0.725
433
FSH001 Fish-Eye Disease 44 0.691
434
P NNT058 Neonatal Diabetes 52 0.681
435
HPT009 Hepatopulmonary Syndrome 48 0.654
436
DMN012 Dementia - Subcortical 17 0.635
437
P CNG048 Congenital Hepatic Fibrosis 36 0.571
438
ECT089 Ectodermal Dysplasia, Hypohidrotic, with Hypothyroidism and Ciliary Dyskinesia 26 0.567
439
OCL015 Oculomotor Apraxia 39 0.547
440
VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 49 0.541
441
TTH030 Teeth, Supernumerary 32 0.465
442
c STS010 Sitosterolemia 1 46 0.432
443
c XLN229 X-Linked Chondrodysplasia Punctata 2 46 0.290
444
OPT001 Optic Disk Drusen 34 0.160
445
STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 14 0.160
446
CNG117 Congenital Nonhemolytic Jaundice 8 0.160
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