Search results for cholic acid

427 hits were found for cholic acid

# Family MCID Name MIFTS Score
1
c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34 57.878
2
CHL068 Cholestasis 61 45.459
3
NNL005 Non-Alcoholic Fatty Liver Disease 63 40.419
4
FTT001 Fatty Liver Disease 62 39.768
5
LPD008 Lipid Metabolism Disorder 62 39.670
6
GST092 Gastroesophageal Reflux 61 35.690
7
c BLC008 Bile Acid Synthesis Defect, Congenital, 2 48 34.520
8
RPD005 Rapidly Involuting Congenital Hemangioma 46 33.886
9
P LVR013 Liver Disease 69 32.734
10
c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45 30.993
11
RFS006 Refsum Disease, Classic 63 30.067
12
c GLL024 Gallbladder Disease 1 52 29.943
13
HYP014 Hyperuricemia 51 29.502
14
c HYP836 Hypercholesterolemia, Familial, 1 73 28.963
15
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 28.383
16
HLX001 Helix Syndrome 48 28.347
17
LVR012 Liver Cirrhosis 63 27.930
18
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 25.502
19
PRM236 Primary Biliary Cholangitis 60 25.223
20
BLC012 Bile Acid Malabsorption, Primary 44 24.966
21
P HYP750 Hypertriglyceridemia, Familial 62 24.432
22
c TYP009 Type 2 Diabetes Mellitus 92 24.410
23
CLT003 Colitis 63 23.984
24
NNL006 Non-Alcoholic Steatohepatitis 54 23.632
25
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 23.400
26
48X005 48,xyyy 39 23.238
27
ATH013 Atherosclerosis Susceptibility 63 23.143
28
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 23.088
29
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 23.088
30
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 23.086
31
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 23.086
32
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 23.081
33
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 23.081
34
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 23.081
35
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 23.081
36
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 23.081
37
P DDN001 Duodenal Ulcer 53 22.957
38
ACT119 Acute Promyelocytic Leukemia 62 22.842
39
HYP781 Hypoascorbemia 52 22.536
40
HYP066 Hyperglycemia 61 21.936
41
c PRX045 Peroxisome Biogenesis Disorder 1b 62 21.641
42
P CRN300 Coronary Heart Disease 1 73 21.631
43
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 21.583
44
CYS001 Cystic Fibrosis 78 21.507
45
PPT005 Peptic Ulcer Disease 58 21.409
46
HMN044 Human Immunodeficiency Virus Type 1 78 21.339
47
P DRR001 Diarrhea 55 21.129
48
c CNG002 Congenital Bile Acid Synthesis Defect 31 20.805
49
P ESP024 Esophagitis 60 20.646
50
P GST044 Gastritis 55 20.404
51
c CHR684 Chronic Kidney Disease 69 20.327
52
P DBT009 Diabetes Mellitus 67 20.311
53
P CHL066 Cholangitis 52 20.052
54
P BRS047 Breast Cancer 98 19.948
55
P HPT021 Hepatitis 69 19.860
56
ULC004 Ulcerative Colitis 74 19.845
57
P ENC018 Encephalopathy 62 19.404
58
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 19.123
59
ISC004 Ischemia 61 18.953
60
AGN016 Aging 54 18.704
61
ADR007 Adrenoleukodystrophy 73 18.634
62
P OST002 Osteoporosis 76 18.586
63
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 18.555
64
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 18.555
65
P HPT023 Hepatocellular Carcinoma 96 18.490
66
HYP056 Hypoglycemia 65 18.419
67
GLB002 Glioblastoma 67 18.396
68
P INF037 Inflammatory Bowel Disease 53 18.376
69
P CLR023 Colorectal Cancer 100 18.131
70
HYP060 Hyperinsulinism 54 17.961
71
c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22 17.877
72
HMC014 Homocysteinemia 52 17.581
73
IRN002 Iron Metabolism Disease 57 17.500
74
HPT004 Hepatic Coma 43 17.466
75
P ALZ034 Alzheimer Disease 87 17.386
76
c HYP595 Hypertension, Essential 85 17.307
77
CRH001 Crohn's Disease 80 17.306
78
47X002 47,xyy 48 17.301
79
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 17.199
80
HYP266 Hypoxia 57 17.165
81
IMM167 Immune Deficiency Disease 78 17.094
82
HRW001 Hair Whorl 35 16.863
83
HPT019 Hepatic Encephalopathy 59 16.813
84
P INT099 Intrahepatic Cholestasis of Pregnancy 62 16.721
85
CHL004 Cholelithiasis 49 16.698
86
CYT002 Cytokine Deficiency 43 16.641
87
c TYP008 Type 1 Diabetes Mellitus 70 16.526
88
P ZLL001 Zellweger Syndrome 65 16.443
89
c INH020 Inherited Metabolic Disorder 48 16.388
90
GST023 Gastric Ulcer 52 16.337
91
CHL014 Cholera 62 16.333
92
P HRT032 Heart Disease 81 16.272
93
P HRP006 Herpes Simplex 65 16.263
94
P PNC035 Pancreatic Cancer 86 16.211
95
c HPT073 Hepatitis C Virus 71 16.188
96
P VSC007 Vascular Disease 63 16.172
97
P OVR082 Overgrowth Syndrome 49 16.167
98
CRB011 Cerebrotendinous Xanthomatosis 65 16.161
99
BCT022 Bacterial Infectious Disease 56 16.151
100
P BND020 Bone Disease 59 16.031
101
ADR022 Adrenomyeloneuropathy 39 16.014
102
PPL052 Papillomatosis, Confluent and Reticulated 34 15.946
103
KRT002 Keratomalacia 55 15.868
104
ALC007 Alcohol Dependence 66 15.659
105
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 15.640
106
P HNT016 Huntington Disease 73 15.638
107
P ART022 Arthritis 71 15.559
108
DRM006 Dermatitis 62 15.521
109
BRR014 Barrett Esophagus 66 15.398
110
XNT003 Xanthomatosis 49 15.358
111
P PNC044 Pancreatitis 61 15.330
112
c HPT001 Hepatitis C 62 15.232
113
P ADN016 Adenocarcinoma 63 15.213
114
c HPT016 Hepatitis B 62 15.175
115
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 15.170
116
OST159 Osteogenic Sarcoma 66 15.167
117
c ACT071 Acute Kidney Failure 60 15.151
118
c HPT003 Hepatitis a 63 14.880
119
PRT251 Proteinuria, Chronic Benign 57 14.799
120
P ALC033 Alcohol Use Disorder 61 14.726
121
GLC003 Glucose Intolerance 54 14.679
122
P SCL009 Sclerosing Cholangitis 48 14.648
123
ADN018 Adenoma 59 14.615
124
BRN071 Brain Injury 50 14.439
125
END086 End Stage Renal Disease 52 14.419
126
c MCR120 Microvascular Complications of Diabetes 7 47 14.368
127
OCL069 Ocular Motor Apraxia 57 14.365
128
STR067 Stroke, Ischemic 80 14.292
129
P BLD134 Bladder Cancer 79 14.291
130
c MCR113 Microvascular Complications of Diabetes 3 52 14.232
131
RCK004 Rickets 68 14.101
132
c MCR133 Microvascular Complications of Diabetes 4 41 14.055
133
c MCR130 Microvascular Complications of Diabetes 6 41 14.050
134
P MYC007 Myocardial Infarction 70 14.046
135
c CHL119 Cholangitis, Primary Sclerosing 58 13.999
136
CRV035 Cervical Cancer 73 13.981
137
P OVR042 Ovarian Cancer 88 13.933
138
P GST053 Gastric Cancer 83 13.775
139
PRT036 Peritonitis 65 13.722
140
HLC007 Helicobacter Pylori Infection 67 13.634
141
URM002 Uremia 47 13.539
142
PRX001 Peroxisomal Disease 46 13.467
143
P SCH015 Schizophrenia 74 13.302
144
P MLN008 Melanoma 76 13.298
145
P BCL017 B-Cell Lymphoma 59 13.288
146
CNS004 Constipation 56 13.268
147
P HYP086 Hypothyroidism 69 13.056
148
c PCH010 Pachyonychia Congenita 3 43 13.016
149
KRT009 Keratosis 53 12.757
150
P OBS001 Obstructive Jaundice 48 12.701
151
c ACT134 Acute Liver Failure 59 12.647
152
c DNT047 Dentinogenesis Imperfecta Type 2 35 12.595
153
P MSC003 Muscular Atrophy 52 12.440
154
ATS010 Autosomal Recessive Disease 42 12.369
155
BLR008 Bilirubin Metabolic Disorder 57 12.358
156
GST050 Gastrointestinal System Disease 55 12.355
157
ESP021 Esophageal Cancer 83 12.323
158
c ATR087 Atrial Standstill 1 74 12.314
159
RFS003 Refsum Disease, Infantile Form 27 12.293
160
IRR002 Irritable Bowel Syndrome 65 12.168
161
P ART021 Arteriosclerosis 54 12.156
162
BRN024 Bronchitis 67 12.119
163
P AST005 Asthma 76 12.117
164
MTH009 Mouth Disease 57 12.114
165
GST033 Gestational Diabetes 61 11.967
166
P MSC005 Muscular Dystrophy 67 11.894
167
TTN003 Tetanus 65 11.878
168
P THR014 Thrombocytopenia 66 11.866
169
P CTR002 Cataract 60 11.807
170
CNG034 Congestive Heart Failure 69 11.803
171
P DSR081 Disorder of Bile Acid Synthesis 19 11.742
172
P BRS044 Breast Adenocarcinoma 58 11.735
173
RNL114 Renal Cell Carcinoma, Nonpapillary 80 11.600
174
CLF027 Cleft Palate, Isolated 64 11.533
175
c VRL010 Viral Hepatitis 53 11.526
176
SVR004 Severe Combined Immunodeficiency 72 11.518
177
CLN015 Colon Adenocarcinoma 65 11.474
178
P SKN015 Skin Carcinoma 71 11.411
179
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 11.153
180
P HYP265 Hypotonia 42 11.141
181
P PLY019 Polyneuropathy 52 11.077
182
P GLM007 Glomerulonephritis 60 11.069
183
P LKM062 Leukemia, Acute Lymphoblastic 69 10.934
184
CHL065 Cholangiocarcinoma 58 10.891
185
INT079 Intrahepatic Cholangiocarcinoma 51 10.845
186
P RSP003 Respiratory Failure 74 10.838
187
P ATR011 Atrial Fibrillation 66 10.803
188
PLM010 Pulmonary Edema 55 10.724
189
BLR001 Biliary Atresia 55 10.717
190
c ACT073 Acute Leukemia 58 10.675
191
P PLY011 Polycystic Ovary Syndrome 57 10.640
192
PRP027 Peripheral Vascular Disease 71 10.537
193
P LNG064 Lung Cancer Susceptibility 3 70 10.516
194
c FML021 Familial Hypercholesterolemia 72 10.508
195
P PNM007 Pneumonia 67 10.499
196
PST092 Posttransplant Acute Limbic Encephalitis 28 10.435
197
P HYP076 Hyperthyroidism 53 10.335
198
P SCK005 Sickle Cell Disease 56 10.327
199
P DMN002 Dementia 66 10.312
200
P NPH012 Nephrotic Syndrome 60 10.309
201
P TRN020 Turner Syndrome 67 10.274
202
P NTR004 Neutropenia 63 10.263
203
P LYM118 Lymphoma 67 10.252
204
P SPP010 Suppressor of Tumorigenicity 3 51 10.168
205
LPT014 Leptin Deficiency or Dysfunction 78 10.118
206
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 10.028
207
P NMN002 Niemann-Pick Disease 60 10.008
208
P INT068 Intestinal Disease 53 9.811
209
CLR108 Colorectal Adenoma 64 9.732
210
PLY150 Polykaryocytosis Inducer 29 9.653
211
P EYD002 Eye Disease 57 9.633
212
DBF001 D-Bifunctional Protein Deficiency 55 9.515
213
P PLM037 Pulmonary Hypertension 72 9.458
214
P PRK057 Parkinson Disease, Late-Onset 80 9.446
215
P KLZ004 Kala-Azar 1 41 9.429
216
LSH001 Leishmaniasis 64 9.429
217
PRP030 Purpura 54 9.407
218
P CND004 Candidiasis 58 9.349
219
MLD018 Mild Cognitive Impairment 48 9.311
220
FDL002 Food Allergy 47 9.310
221
CHL067 Cholecystitis 60 9.266
222
ENT011 Enterocolitis 55 9.238
223
MST005 Mastitis 53 9.234
224
PRT013 Portal Hypertension 59 9.232
225
P FML011 Familial Adenomatous Polyposis 71 9.225
226
ANX010 Anxiety 70 9.020
227
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 9.011
228
LYS002 Lysosomal Storage Disease 51 8.963
229
ANT039 Antisynthetase Syndrome 55 8.942
230
ORL011 Oral Cancer 60 8.900
231
P HML002 Hemolytic Anemia 62 8.868
232
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 8.861
233
MDD018 Middle East Respiratory Syndrome 44 8.859
234
c PRX059 Peroxisome Biogenesis Disorder 1a 56 8.853
235
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 8.820
236
P CLC063 Celiac Disease 1 66 8.814
237
P SHR001 Short Bowel Syndrome 53 8.790
238
BLR002 Bile Reflux 38 8.741
239
P SYS005 Systemic Scleroderma 74 8.678
240
P FML355 Familial Intrahepatic Cholestasis 42 8.625
241
INT323 Intraocular Pressure Quantitative Trait Locus 64 8.592
242
P RCT021 Rectum Cancer 54 8.518
243
DDN004 Duodenogastric Reflux 31 8.312
244
MSC157 Muscular Dystrophy, Duchenne Type 79 8.250
245
RYS001 Reye Syndrome 49 8.230
246
c SCL052 Scleroderma, Familial Progressive 61 8.226
247
OTT002 Otitis Media 71 8.193
248
SCH014 Schistosomiasis 56 8.184
249
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 8.178
250
PRN019 Perinatal Necrotizing Enterocolitis 60 8.122
251
DYS015 Dysentery 50 8.119
252
ORL015 Oral Squamous Cell Carcinoma 43 8.106
253
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 7.989
254
CLR109 Colorectal Adenocarcinoma 50 7.951
255
HPT014 Hepatorenal Syndrome 49 7.911
256
P THY032 Thyroiditis 57 7.839
257
P MYC008 Myocarditis 59 7.814
258
P END044 Endometriosis 62 7.790
259
P MDL005 Medulloblastoma 75 7.753
260
HPT022 Hepatoblastoma 54 7.742
261
EXT006 Extrahepatic Cholestasis 40 7.681
262
NNT017 Neonatal Adrenoleukodystrophy 54 7.609
263
CRH005 Crohn's Colitis 53 7.606
264
ALL006 Allergic Asthma 56 7.530
265
c HNT011 Huntington Disease-Like 3 34 7.524
266
SPL018 Splenomegaly 49 7.504
267
c HNT004 Huntington Disease-Like 2 52 7.494
268
VRC005 Varicose Veins 60 7.463
269
SMT004 Smith-Lemli-Opitz Syndrome 70 7.374
270
PRT038 Protein-Energy Malnutrition 53 7.296
271
c OPT051 Opitz Gbbb Syndrome, Type I 46 7.291
272
ZLL011 Zellweger Spectrum Disorder 45 7.273
273
P LKD001 Leukodystrophy 59 7.121
274
IMP005 Impotence 52 7.065
275
HND015 Hand Skill, Relative 30 6.998
276
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55 6.847
277
EXC002 Exocrine Pancreatic Insufficiency 42 6.797
278
TYP007 Typhoid Fever 64 6.636
279
P ICH004 Ichthyosis 56 6.635
280
CNN005 Connective Tissue Disease 67 6.601
281
ART016 Aortic Aneurysm 68 6.553
282
P OPN001 Open-Angle Glaucoma 55 6.544
283
LPD009 Lipid Storage Disease 45 6.519
284
CHD004 Chudley-Mccullough Syndrome 48 6.487
285
STN013 Stenotrophomonas Maltophilia Infection 26 6.431
286
ILS001 Ileus 50 6.357
287
ALC006 Alcoholic Hepatitis 61 6.296
288
P SNS001 Sensorineural Hearing Loss 59 6.266
289
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 57 6.192
290
P GRV001 Graves' Disease 55 6.183
291
CRT015 Carotid Artery Occlusion 45 6.129
292
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 6.096
293
SHG001 Shigellosis 63 6.092
294
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 6.065
295
PRP016 Paraplegia 52 6.054
296
ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 45 6.018
297
CHY002 Chylomicron Retention Disease 64 5.993
298
P GLL020 Gallbladder Disease 56 5.854
299
P INT070 Intestinal Obstruction 57 5.832
300
ILT001 Ileitis 48 5.789
301
ACR007 Acromegaly 70 5.755
302
P HYP040 Hypospadias 51 5.740
303
c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52 5.692
304
c HMC039 Hemochromatosis, Type 1 73 5.665
305
c NMN015 Niemann-Pick Disease, Type C1 68 5.640
306
P THY023 Thymoma 64 5.422
307
c THY107 Thymoma, Familial 42 5.418
308
P CHN044 Chondrodysplasia Punctata Syndrome 43 5.378
309
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 5.317
310
CHL039 Choledocholithiasis 37 5.278
311
P HMR003 Hemorrhagic Disease 59 5.263
312
VTM033 Vitamin K Deficiency Bleeding 48 5.258
313
c GLC092 Glaucoma, Primary Open Angle 62 5.226
314
INT067 Interstitial Nephritis 46 5.190
315
PRN071 Parenteral Nutrition-Associated Cholestasis 23 5.189
316
GLB001 Gilbert Syndrome 53 5.144
317
P BLR006 Biliary Tract Disease 46 5.124
318
CHL079 Children's Interstitial Lung Disease 26 5.108
319
GRN017 Granulocytopenia 42 5.086
320
CLR030 Clear Cell Renal Cell Carcinoma 54 5.084
321
ALP103 Alpha-1-Antitrypsin Deficiency 68 4.987
322
CRT084 Creatinine Clearance Quantitative Trait Locus 25 4.900
323
ALC009 Alcoholic Liver Cirrhosis 54 4.777
324
PRM329 Premature Aging 36 4.774
325
P HML001 Hemolytic-Uremic Syndrome 52 4.769
326
P TCD001 Tic Disorder 49 4.751
327
PLS007 Plasmodium Falciparum Malaria 52 4.738
328
P HYP838 Hyperlipidemia, Familial Combined, 3 61 4.709
329
P FCL005 Focal Segmental Glomerulosclerosis 57 4.682
330
c ACT004 Acute Diarrhea 40 4.664
331
MST020 Mast Cell Activation Syndrome 28 4.662
332
ATP014 Atp8b1 Deficiency 28 4.662
333
CCC002 Coccidiosis 50 4.662
334
LWC001 Low Compliance Bladder 45 4.654
335
ABT001 Abetalipoproteinemia 68 4.637
336
c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53 4.595
337
SPH010 Sphingolipidosis 47 4.593
338
NNT012 Neonatal Jaundice 53 4.550
339
HMG002 Hemoglobinuria 50 4.499
340
P GLL018 Gallbladder Cancer 53 4.485
341
P RNL015 Renal Hypertension 45 4.463
342
WLS001 Wilson Disease 70 4.453
343
HTC003 Hutchinson-Gilford Progeria Syndrome 65 4.404
344
ALC005 Alcoholic Pancreatitis 38 4.368
345
DBN001 Dubin-Johnson Syndrome 57 4.336
346
HYP748 Hypertelorism 46 4.300
347
P ALG028 Alagille Syndrome 1 73 4.285
348
PNC034 Pancreas Disease 50 4.270
349
CRV040 Cervix Carcinoma 50 4.231
350
DVR002 Diverticulitis 46 4.207
351
PRX005 Peroxisomal Biogenesis Disorder 33 4.155
352
CRD137 Cardiogenic Shock 56 4.138
353
HSH003 Hashimoto Thyroiditis 60 4.135
354
CLS016 Clostridium Difficile Colitis 49 4.131
355
HMZ003 Homozygous Familial Hypercholesterolemia 60 4.129
356
c PNC108 Pancreatitis, Hereditary 69 4.078
357
GST019 Gastrointestinal Stromal Tumor 78 4.061
358
P HYP024 Hypoparathyroidism 55 4.056
359
c PRG020 Paragangliomas 3 39 4.042
360
c PNC106 Pancreatic Agenesis 1 51 4.001
361
c NMN014 Niemann-Pick Disease, Type C2 49 3.978
362
ART004 Aortic Atherosclerosis 47 3.908
363
MRS001 Marasmus 42 3.853
364
HPT067 Hepatocellular Adenoma 43 3.842
365
PRM020 Premenstrual Tension 39 3.841
366
P MTC003 Metachromatic Leukodystrophy 71 3.814
367
c ART101 Aortic Valve Disease 2 66 3.795
368
P STS003 Sitosterolemia 53 3.772
369
BLR013 Biliary Tract Cancer 43 3.750
370
OPT003 Opiate Dependence 49 3.700
371
HSD004 Hsd10 Mitochondrial Disease 45 3.689
372
TRP004 Tropical Sprue 39 3.667
373
FND002 Fundus Dystrophy 55 3.620
374
ADN075 Adenomyoma 32 3.541
375
c INH030 Inherited Retinal Disorder 28 3.432
376
c FNC027 Fanconi Anemia, Complementation Group a 81 3.407
377
c HNT010 Huntington Disease-Like 1 55 3.406
378
MST021 Meester-Loeys Syndrome 42 3.389
379
CHL122 Cholesteatoma of Middle Ear 51 3.337
380
OLG003 Oligohydramnios 51 3.332
381
P OPT048 Opitz-Gbbb Syndrome 49 3.310
382
CLN003 Clonorchiasis 43 3.306
383
CLN044 Colon Adenoma 44 3.304
384
SKN005 Skin Atrophy 41 3.298
385
BLR004 Biliary Dyskinesia 37 3.284
386
PTT046 Pituitary Hormone Deficiency, Combined, 2 62 3.269
387
HYP279 Hypercholanemia, Familial 31 3.214
388
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 3.195
389
SCT005 Scott Syndrome 50 3.066
390
ACL001 Acalculous Cholecystitis 38 3.058
391
BLD063 Bile Duct Cysts 42 3.055
392
P PLY006 Polydactyly 59 3.000
393
RFR003 Refractive Error 41 2.998
394
INT046 Intestinal Tuberculosis 39 2.997
395
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 55 2.925
396
c HYP739 Hyperlipoproteinemia, Type Iv 53 2.897
397
TRC123 Trichohepatoneurodevelopmental Syndrome 28 2.883
398
ILC002 Ileocolitis 43 2.758
399
CNG491 Congenital Portosystemic Shunt 17 2.725
400
ACT228 Acute Radiation Syndrome 30 2.693
401
BRS050 Breast Cyst 38 2.669
402
P VNB005 Van Buchem Disease 58 2.658
403
c BRT038 Baraitser-Winter Syndrome 1 41 2.658
404
P HYP818 Hypobetalipoproteinemia, Familial, 1 60 2.615
405
MNT252 Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 37 2.501
406
c CNG478 Congenital Diarrhea 30 2.444
407
CRR012 Cirrhotic Cardiomyopathy 22 2.409
408
c ATM113 Autoimmune Cholangitis 30 2.389
409
PST030 Postcholecystectomy Syndrome 33 2.369
410
P CRG003 Crigler-Najjar Syndrome, Type I 63 2.209
411
PTT001 Pituitary Hypoplasia 34 2.006
412
c FNC042 Fanconi Anemia, Complementation Group D2 54 1.990
413
BLR028 Biliary Atresia, Extrahepatic 36 1.917
414
RKT003 Rokitansky-Aschoff Sinuses of the Gallbladder 13 1.908
415
HMC038 Hemochromatosis, Neonatal 33 1.861
416
HYP732 Hyperalphalipoproteinemia 1 52 1.824
417
P NNT058 Neonatal Diabetes 52 1.750
418
c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 38 1.622
419
HYP236 Hyperbilirubinemia, Rotor Type 44 1.616
420
ISC015 Ischemic Colitis 43 1.600
421
FSH001 Fish-Eye Disease 44 1.568
422
ANT003 Antley-Bixler Syndrome 49 1.469
423
VSC058 Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome 49 1.322
424
SML008 Small Intestine Lymphoma 33 1.234
425
PNT009 Pontine Tegmental Cap Dysplasia 35 1.222
426
c XLN229 X-Linked Chondrodysplasia Punctata 2 46 1.164
427
LYM015 Lymphocytic Gastritis 32 0.963
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