Liver Diseases Category (544 diseases)


Including: Liver, Hepatobiliary
See other categories (disease lists)

# Family MCID Name MIFTS
1 P HPT023 Hepatocellular Carcinoma 94
2 CHL128 Childhood Hepatocellular Carcinoma 47
3 BLC007 Bile Acid Synthesis Defect, Congenital, 1 34
4 MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 15
5 BLC008 Bile Acid Synthesis Defect, Congenital, 2 30
6 c LVR030 Liver Failure, Infantile, Transient 27
7 NNL002 Nonalcoholic Steatohepatitis 56
8 c GLY008 Glycogen Storage Disease Ii 64
9 P GLY013 Glycogen Storage Disease 61
10 c GLY003 Glycogen Storage Disease Iii 56
11 c GLY004 Glycogen Storage Disease V 55
12 c GLY005 Glycogen Storage Disease Vi 51
13 c GLY007 Glycogen Storage Disease Iv 51
14 c GLY011 Glycogen Storage Disease Vii 48
15 c GLY098 Glycogen Storage Disease, Type Ixd 40
16 c GLY016 Glycogen Storage Disease Ib 36
17 c GLY023 Glycogen Storage Disease Type 0 34
18 c GLY057 Glycogen Storage Disease X 30
19 c GLY017 Glycogen Storage Disease Ic 28
20 c GLY043 Glycogen Storage Disease Xii 27
21 c GLY009 Glycogen Storage Disease Xv 26
22 c GLY059 Glycogen Storage Disease Xiii 22
23 c GLY093 Glycogen Storage Disease Ixa 17
24 c GLY001 Glycogen Storage Disease Ix 12
25 BLD034 Bile Duct Carcinoma 60
26 FTT001 Fatty Liver Disease 62
27 P LVR013 Liver Disease 76
28 P PLY023 Polycystic Liver Disease 53
29 GLY058 Glycogen Storage Disease 0, Liver 31
30 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 55
31 HPT082 Hepatic Adenomas, Familial 52
32 c GLY097 Glycogen Storage Disease Ixb 27
33 FSC002 Fascioliasis 45
34 BLD036 Bile Duct Disease 52
35 GLY099 Glycogen Storage Disease Ixa1 31
36 CMB012 Combined Oxidative Phosphorylation Deficiency 1 29
37 BLC009 Bile Acid Synthesis Defect, Congenital, 4 28
38 P PRP003 Porphyria Cutanea Tarda 67
39 ALC009 Alcoholic Liver Cirrhosis 53
40 LVR002 Liver Angiosarcoma 45
41 c INF145 Infantile Liver Failure Syndrome 1 33
42 c PRP091 Porphyria Cutanea Tarda, Type I 31
43 c FML324 Familial Porphyria Cutanea Tarda 22
44 LVR012 Liver Cirrhosis 73
45 MTC063 Mitochondrial Dna Depletion Syndrome 3 30
46 INT271 Interstitial Lung and Liver Disease 27
47 P FTT008 Fatty Liver Disease, Nonalcoholic 1 25
48 c ACT134 Acute Liver Failure 52
49 HPT014 Hepatorenal Syndrome 49
50 c PLY146 Polycystic Liver Disease 1 45
51 BLC011 Bile Acid Synthesis Defect, Congenital, 3 23
52 BLC016 Bile Acid Synthesis Defect, Congenital, 5 18
53 LVR003 Liver Carcinoma in Situ 8
54 CHL068 Cholestasis 60
55 ECH003 Echinococcosis 57
56 HPT022 Hepatoblastoma 55
57 c INF138 Infantile Liver Failure Syndrome 2 18
58 BLC018 Bile Acid Synthesis Defect, Congenital, 6 18
59 DXY001 Deoxyguanosine Kinase Deficiency 16
60 P HYP750 Hypertriglyceridemia, Familial 55
61 P PRM006 Primary Biliary Cirrhosis 55
62 c BLR024 Biliary Cirrhosis, Primary, 1 35
63 c HYP555 Hypertriglyceridemia, Transient Infantile 34
64 c BLR016 Biliary Cirrhosis, Primary, 2 17
65 c BLR017 Biliary Cirrhosis, Primary, 3 13
66 c BLR026 Biliary Cirrhosis, Primary, 5 10
67 c BLR025 Biliary Cirrhosis, Primary, 4 10
68 EXT028 Extrahepatic Bile Duct Adenoma 8
69 UND001 Undifferentiated Embryonal Sarcoma of the Liver 33
70 c GLY044 Glycogen Storage Disease Ixc 30
71 BLD005 Bile Duct Mucoepidermoid Carcinoma 27
72 INT049 Intrahepatic Bile Duct Adenoma 25
73 LVR004 Liver Inflammatory Pseudotumor 25
74 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
75 c VSC053 Visceral Steatosis, Congenital 22
76 HPT011 Hepatocellular Clear Cell Carcinoma 12
77 EXT014 Extrahepatic Bile Duct Cystadenoma 8
78 CMM001 Common Bile Duct Neoplasm 8
79 INT037 Intrahepatic Bile Duct Cystadenoma 8
80 LVR007 Liver Fibroma 7
81 P HPT021 Hepatitis 75
82 c HPT073 Hepatitis C Virus 73
83 c ATM011 Autoimmune Hepatitis 63
84 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
85 c VRL010 Viral Hepatitis 59
86 c SPN294 Spinocerebellar Ataxia 1 58
87 c HPT007 Hepatitis E 57
88 P SPN301 Spinocerebellar Ataxia 2 56
89 c HPT015 Hepatitis D 52
90 c SPN291 Spinocerebellar Ataxia 7 52
91 c SPN309 Spinocerebellar Ataxia 6 48
92 c SPN293 Spinocerebellar Ataxia 12 47
93 c SPN296 Spinocerebellar Ataxia 17 46
94 CLN003 Clonorchiasis 46
95 c SPN314 Spinocerebellar Ataxia 10 46
96 c SPN100 Spinocerebellar Ataxia 27 44
97 c SPN305 Spinocerebellar Ataxia 11 43
98 c SPN312 Spinocerebellar Ataxia 14 43
99 c SPN311 Spinocerebellar Ataxia 13 42
100 c SPN265 Spinocerebellar Ataxia 36 41
101 c SPN103 Spinocerebellar Ataxia 31 40
102 c SPN290 Spinocerebellar Ataxia 15 40
103 c SPN106 Spinocerebellar Ataxia 5 40
104 c SPN308 Spinocerebellar Ataxia 28 38
105 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 38
106 c SPN304 Spinocerebellar Ataxia 8 36
107 c SPN094 Spinocerebellar Ataxia 18 36
108 c SPN097 Spinocerebellar Ataxia 23 36
109 c SPN299 Spinocerebellar Ataxia 20 35
110 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 32
111 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
112 c SPN104 Spinocerebellar Ataxia 34 32
113 c SPN101 Spinocerebellar Ataxia 29 31
114 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
115 c SPN266 Spinocerebellar Ataxia 35 31
116 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 30
117 c SPN099 Spinocerebellar Ataxia 26 30
118 c SPN105 Spinocerebellar Ataxia 4 30
119 c SPN095 Spinocerebellar Ataxia 19 30
120 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
121 c SPN096 Spinocerebellar Ataxia 21 30
122 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
123 c SPN283 Spinocerebellar Ataxia 37 29
124 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 28
125 c SPN284 Spinocerebellar Ataxia 38 27
126 c SPN372 Spinocerebellar Ataxia 43 27
127 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 27
128 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
129 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
130 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 27
131 CNG002 Congenital Bile Acid Synthesis Defect 27
132 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 26
133 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 26
134 c SPN247 Spinocerebellar Ataxia Type 19/22 26
135 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
136 c SPN098 Spinocerebellar Ataxia 25 26
137 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
138 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
139 c SPN383 Spinocerebellar Ataxia 42 25
140 c SPN286 Spinocerebellar Ataxia 40 24
141 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 24
142 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 24
143 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
144 c SPN323 Spinocerebellar Ataxia 41 22
145 c SPN259 Spinocerebellar Ataxia 32 21
146 c SPN102 Spinocerebellar Ataxia 30 21
147 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
148 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 20
149 c SPN418 Spinocerebellar Ataxia 44 20
150 c SPN107 Spinocerebellar Ataxia 9 20
151 BLC012 Bile Acid Malabsorption, Primary 18
152 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
153 c SPN336 Spinocerebellar Ataxia Type 16 17
154 c SPN420 Spinocerebellar Ataxia 46 16
155 c SPN419 Spinocerebellar Ataxia 45 15
156 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
157 HPT009 Hepatopulmonary Syndrome 53
158 P CNG048 Congenital Hepatic Fibrosis 41
159 BLR028 Biliary Atresia, Extrahepatic 32
160 CMM007 Common Bile Duct Disease 23
161 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 14
162 LVR009 Liver Rhabdomyosarcoma 13
163 LVR010 Liver Leiomyosarcoma 11
164 BLD038 Bile Duct Sarcoma 10
165 ADN003 Adenosquamous Bile Duct Carcinoma 10
166 BLD037 Bile Duct Rhabdomyosarcoma 8
167 c HPT001 Hepatitis C 73
168 c HPT016 Hepatitis B 68
169 c ADL096 Adult Hepatocellular Carcinoma 47
170 CYS008 Cystic Echinococcosis 47
171 HMN004 Hemangioma of Liver 30
172 NTM001 Nutmeg Liver 28
173 RJS001 Ruijs-Aalfs Syndrome 22
174 LVR005 Liver Leiomyoma 20
175 LVR006 Liver Lymphoma 20
176 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
177 MXD007 Mixed Hepatoblastoma 18
178 BLD035 Bile Duct Cystadenoma 13
179 c FTT007 Fatty Liver Disease, Nonalcoholic 2 12
180 IGG017 Igg4-Related Hepatopathy 10
181 BLD007 Bile Duct Signet Ring Cell Carcinoma 10
182 LVR001 Liver Lipoma 9
183 CYT022 Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 8
184 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
185 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 7
186 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
187 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 7
188 EXT017 Extrahepatic Bile Duct Papillary Adenoma 5
189 EXT013 Extrahepatic Bile Duct Leiomyoma 5
190 EXT005 Extrahepatic Bile Duct Lipoma 5
191 UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 5
192 SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 5
193 SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3
194 PYR019 Pyruvate Kinase Deficiency, Liver Type 3
195 SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2
196 c PRX045 Peroxisome Biogenesis Disorder 1b 57
197 HPT067 Hepatocellular Adenoma 43
198 c PRX059 Peroxisome Biogenesis Disorder 1a 41
199 PLS002 Peliosis Hepatis 36
200 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
201 c PRX060 Peroxisome Biogenesis Disorder 5a 29
202 c PRX063 Peroxisome Biogenesis Disorder 2a 29
203 c PRX054 Peroxisome Biogenesis Disorder 12a 26
204 c PRX053 Peroxisome Biogenesis Disorder 14b 26
205 c PRX055 Peroxisome Biogenesis Disorder 11a 25
206 c PRX065 Peroxisome Biogenesis Disorder 3a 25
207 c PRX091 Peroxisome Biogenesis Disorder 8a 24
208 c PRX057 Peroxisome Biogenesis Disorder 4a 24
209 c PRX048 Peroxisome Biogenesis Disorder 10a 24
210 c PRX046 Peroxisome Biogenesis Disorder 7a 24
211 c PRX052 Peroxisome Biogenesis Disorder 13a 23
212 c PRX051 Peroxisome Biogenesis Disorder 6a 22
213 c PRX050 Peroxisome Biogenesis Disorder 9b 22
214 c PRX058 Peroxisome Biogenesis Disorder 4b 21
215 c PRX047 Peroxisome Biogenesis Disorder 5b 21
216 c PRX062 Peroxisome Biogenesis Disorder 8b 21
217 c PRX043 Peroxisome Biogenesis Disorder 6b 20
218 c PRX066 Peroxisome Biogenesis Disorder 3b 19
219 c PRX056 Peroxisome Biogenesis Disorder 11b 19
220 MTC129 Mitochondrial Dna Depletion Syndrome 15 19
221 P PRX064 Peroxisome Biogenesis Disorder 2b 19
222 GRW035 Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 18
223 c PRX089 Peroxisome Biogenesis Disorder 10b 18
224 c PRX068 Peroxisome Biogenesis Disorder 7b 18
225 c PLY143 Polycystic Liver Disease 2 15
226 ALC006 Alcoholic Hepatitis 62
227 HPT008 Hepatic Tuberculosis 37
228 c ALG016 Alagille Syndrome 2 26
229 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 9
230 LVR008 Liver Fibrosarcoma 7
231 P MTR004 Maturity-Onset Diabetes of the Young 62
232 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 45
233 HPT070 Hepatosplenic T-Cell Lymphoma 43
234 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 41
235 DRG002 Drug-Induced Hepatitis 41
236 HPT004 Hepatic Coma 40
237 BLR005 Biliary Papillomatosis 36
238 BLR002 Bile Reflux 34
239 HPT081 Hepatic Infarction 30
240 P ZMM001 Zimmermann-Laband Syndrome 28
241 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 28
242 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 26
243 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 24
244 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
245 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 24
246 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 23
247 HPT066 Hepatoportal Sclerosis 20
248 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 20
249 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 19
250 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 19
251 c ZMM003 Zimmermann-Laband Syndrome 2 18
252 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 18
253 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 18
254 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 17
255 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 16
256 HPT028 Hepatic Cystic Hamartoma 14
257 INT039 Intrahepatic Biliary Papillomatosis 13
258 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 12
259 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 12
260 SLT015 Solitary Necrotic Nodule of the Liver 11
261 PRM248 Primary Intrahepatic Lithiasis 9
262 EXT015 Extrahepatic Biliary Papillomatosis 9
263 HPT075 Hepatitis B Reinfection Following Liver Transplantation 8
264 PRF001 Perforation of Bile Duct 8
265 IDP083 Idiopathic Peliosis Hepatis 7
266 LVR029 Liver Fibrocystic Disease and Polydactyly 7
267 BLD001 Bile Duct Carcinoma in Situ 6
268 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
269 MCR005 Macrotrabecular Hepatoblastoma 5
270 DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 5
271 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 4
272 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
273 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
274 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 4
275 RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 3
276 P GLL020 Gallbladder Disease 64
277 c HPT003 Hepatitis a 63
278 P SCL009 Sclerosing Cholangitis 53
279 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
280 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
281 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
282 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
283 c GLL024 Gallbladder Disease 1 39
284 c HMC021 Hemochromatosis, Type 2a 36
285 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
286 c CNG191 Congenital Disorder of Glycosylation, Type Iia 35
287 c CNG379 Congenital Disorder of Glycosylation, Type It 34
288 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
289 c CNG416 Congenital Disorder of Glycosylation, Type Iy 32
290 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
291 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
292 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
293 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
294 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
295 c HMC034 Hemochromatosis, Type 5 30
296 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
297 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
298 c CNG188 Congenital Disorder of Glycosylation, Type if 29
299 c CNG207 Congenital Disorder of Glycosylation, Type Io 29
300 IGG014 Igg4-Related Sclerosing Cholangitis 29
301 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
302 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
303 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
304 c CNG383 Congenital Disorder of Glycosylation, Type Iik 28
305 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
306 c CNG201 Congenital Disorder of Glycosylation, Type Iij 27
307 c CNG497 Congenital Disorder of Glycosylation, Type Iio 26
308 c CNG194 Congenital Disorder of Glycosylation, Type Ig 26
309 c CNG378 Congenital Disorder of Glycosylation, Type Ir 26
310 c CNG414 Congenital Disorder of Glycosylation, Type Iil 25
311 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
312 c CNG209 Congenital Disorder of Glycosylation, Type Iif 25
313 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
314 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
315 c CNG504 Congenital Disorder of Glycosylation, Type Iip 24
316 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
317 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
318 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 23
319 c HMC019 Hemochromatosis, Type 2b 23
320 NRT006 North American Indian Childhood Cirrhosis 23
321 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
322 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 23
323 P JVN024 Juvenile Hereditary Hemochromatosis 22
324 HYP481 Hyperbiliverdinemia 22
325 CRL006 Caroli Disease, Isolated 21
326 c SCN059 Secondary Sclerosing Cholangitis 20
327 CNG491 Congenital Portosystemic Shunt 15
328 GNR029 Generalized Galactose Epimerase Deficiency 14
329 c GLL027 Gallbladder Disease 4 12
330 ERY041 Erythrocyte Galactose Epimerase Deficiency 11
331 FRR002 Ferro-Cerebro-Cutaneous Syndrome 10
332 c GLL026 Gallbladder Disease 3 9
333 c GLL025 Gallbladder Disease 2 9
334 IDP084 Idiopathic Ductopenia 8
335 ISL112 Isolated Congenital Hepatic Fibrosis 7
336 BLR023 Biliary Atresia with Splenic Malformation Syndrome 7
337 IDP071 Idiopathic Copper-Associated Cirrhosis 5
338 ISL105 Isolated Agenesis of Gallbladder 5
339 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 4
340 ISL110 Isolated Neonatal Sclerosing Cholangitis 4
341 FBR086 Fibrolamellar Carcinoma 50
342 BLR007 Biliary Tract Neoplasm 53
343 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
344 P ALG028 Alagille Syndrome 1 68
345 MTC056 Mitochondrial Dna Depletion Syndrome 4a 49
346 P TRC086 Trichohepatoenteric Syndrome 1 54
347 c TRC078 Trichohepatoenteric Syndrome 2 34
348 WLS001 Wilson Disease 72
349 CHL065 Cholangiocarcinoma 70
350 c GLY060 Glycogen Storage Disease Ia 57
351 c TYR012 Tyrosinemia, Type I 55
352 HLL004 Hellp Syndrome 53
353 P TYR004 Tyrosinemia 48
354 c TYR013 Tyrosinemia, Type Ii 45
355 c TYR011 Tyrosinemia, Type Iii 39
356 BLR001 Biliary Atresia 56
357 EXT027 Extrahepatic Bile Duct Adenocarcinoma 36
358 NDL013 Nodular Regenerative Hyperplasia 53
359 CRN295 Carnitine Palmitoyltransferase I Deficiency 46
360 BLD019 Bile Duct Cystadenocarcinoma 31
361 INT014 Intrahepatic Gall Duct Cancer 12
362 BLD002 Bile Duct Mucinous Adenocarcinoma 10
363 BLD006 Bile Duct Clear Cell Adenocarcinoma 10
364 CPR004 Coproporphyria, Hereditary 54
365 CRL004 Caroli Disease 35
366 LVR014 Liver Sarcoma 29
367 RYS001 Reye Syndrome 50
368 MLB001 Mulibrey Nanism 46
369 HPT019 Hepatic Encephalopathy 59
370 GLB001 Gilbert Syndrome 55
371 CNG436 Congenital Disorder of Deglycosylation 40
372 OPS001 Opisthorchiasis 39
373 P VSC018 Visceral Steatosis 38
374 IMM140 Immunodeficiency 47 20
375 HPT017 Hepatic Osteogenic Sarcoma 8
376 TNG005 Tang Hsi Ryu Syndrome 7
377 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 6
378 ADN087 Adenocarcinoma of the Liver and Intrahepatic Biliary Tract 5
379 INT079 Intrahepatic Cholangiocarcinoma 60
380 HPT079 Hepatoid Adenocarcinoma 30
381 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
382 BLD032 Bile Duct Adenocarcinoma 39
383 HPT020 Hepatic Vascular Disease 36
384 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
385 c GLY006 Glycogen Storage Disease Viii 19
386 DYK001 Dykes Markes Harper Syndrome 7
387 BLD063 Bile Duct Cysts 44
388 SCL007 Sclerosing Hepatic Carcinoma 25
389 IL2003 Il21r Immunodeficiency 22
390 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 16
391 DST001 Distal Biliary Tract Carcinoma 14
392 BLD018 Bladder Hepatoid Adenocarcinoma 6
393 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
394 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
395 GLC006 Galactosemia 64
396 CRB011 Cerebrotendinous Xanthomatosis 64
397 c CHL119 Cholangitis, Primary Sclerosing 60
398 DBN001 Dubin-Johnson Syndrome 56
399 c FRC011 Fructose Intolerance, Hereditary 56
400 P CNG411 Congenital Disorder of Glycosylation, Type in 55
401 CCH002 Coach Syndrome 51
402 c CRG004 Crigler-Najjar Syndrome, Type Ii 49
403 GLC011 Galactose Epimerase Deficiency 46
404 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 44
405 c HMC009 Hemochromatosis Type 2 43
406 c HMC010 Hemochromatosis, Type 3 42
407 HYP236 Hyperbilirubinemia, Rotor Type 41
408 c HMC035 Hemochromatosis, Type 4 40
409 HMC038 Hemochromatosis, Neonatal 38
410 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
411 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 35
412 P CTR177 Citrullinemia, Type Ii, Adult-Onset 34
413 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 30
414 PLY158 Polyglucosan Body Neuropathy, Adult Form 29
415 c HYP716 Hypermanganesemia with Dystonia 1 28
416 c CNG386 Congenital Disorder of Glycosylation, Type Iu 25
417 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
418 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 22
419 HYP279 Hypercholanemia, Familial 22
420 CRR012 Cirrhotic Cardiomyopathy 22
421 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
422 c HYP713 Hypermanganesemia with Dystonia 2 21
423 PRT112 Portal Hypertension, Noncirrhotic 21
424 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 21
425 P HYP821 Hypermanganesemia with Dystonia 18
426 FLM003 Fulminant Viral Hepatitis 18
427 CNG062 Congenital Bronchobiliary Fistula 17
428 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
429 GLL034 Gallbladder Neuroendocrine Tumor 15
430 P ACQ013 Acquired Fructose Intolerance 15
431 c ADL083 Adult-Onset Citrullinemia Type I 8
432 FLL045 Follicular Cholangitis and Pancreatitis 8
433 ADN082 Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract 7
434 SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 7
435 MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 6
436 CNG340 Congenital Anomaly of Hepatic Vein 6
437 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 38
438 FNC009 Fanconi-Bickel Syndrome 53
439 MTC054 Mitochondrial Dna Depletion Syndrome 7 41
440 KLT001 Klatskin's Tumor 47
441 P INT001 Intrahepatic Cholestasis 62
442 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52
443 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
444 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 45
445 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 43
446 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 27
447 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 21
448 P END039 Endodermal Sinus Tumor 44
449 JBR006 Joubert Syndrome with Oculorenal Anomalies 42
450 PRM205 Primary Hepatic Neuroendocrine Carcinoma 35
451 c ADL047 Adult Endodermal Sinus Tumor 9
452 c HMC039 Hemochromatosis, Type 1 71
453 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
454 P CRG003 Crigler-Najjar Syndrome, Type I 62
455 ALP103 Alpha-1-Antitrypsin Deficiency 60
456 PRM236 Primary Biliary Cholangitis 56
457 NNT017 Neonatal Adrenoleukodystrophy 52
458 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 49
459 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 49
460 RYN003 Reynolds Syndrome 47
461 P INF016 Infantile Epileptic Encephalopathy 43
462 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
463 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
464 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
465 CHL073 Cholestasis-Lymphedema Syndrome 35
466 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
467 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 34
468 IRN008 Iron Overload in Africa 32
469 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
470 GRC001 Gracile Syndrome 31
471 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
472 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
473 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 26
474 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
475 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
476 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
477 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
478 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
479 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
480 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
481 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 22
482 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 22
483 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
484 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 21
485 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 21
486 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
487 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
488 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 21
489 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 21
490 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 21
491 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
492 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
493 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 21
494 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 21
495 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
496 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
497 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
498 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 21
499 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 20
500 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
501 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 20
502 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
503 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
504 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
505 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
506 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
507 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 20
508 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
509 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
510 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 19
511 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 19
512 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 19
513 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
514 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 19
515 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 19
516 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
517 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 18
518 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 18
519 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 17
520 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 16
521 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
522 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 14
523 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 14
524 PRM285 Primitive Portal Vein Thrombosis 14
525 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 38
526 c ZMM002 Zimmermann-Laband Syndrome 1 38
527 CYS001 Cystic Fibrosis 85
528 P MCK013 Meckel Syndrome, Type 1 62
529 LYS012 Lysosomal Acid Lipase Deficiency 60
530 BDD001 Budd-Chiari Syndrome 58
531 HPT046 Hepatic Veno-Occlusive Disease 56
532 c MCK033 Meckel Syndrome, Type 4 26
533 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 26
534 c MCK032 Meckel Syndrome, Type 3 24
535 c MCK030 Meckel Syndrome, Type 7 24
536 c MCK031 Meckel Syndrome, Type 2 23
537 c MCK034 Meckel Syndrome, Type 8 23
538 c MCK026 Meckel Syndrome 12 21
539 c MCK014 Meckel Syndrome, Type 5 21
540 c MCK012 Meckel Syndrome, Type 6 21
541 c MCK035 Meckel Syndrome, Type 10 20
542 c MCK036 Meckel Syndrome, Type 9 20
543 c MCK028 Meckel Syndrome 13 20
544 c MCK020 Meckel Syndrome, Type 11 19



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