Liver Diseases Category (556 diseases)


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

# Family MCID Name MIFTS
1 P HPT023 Hepatocellular Carcinoma 89
2 MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 15
3 BLC007 Bile Acid Synthesis Defect, Congenital, 1 34
4 CHL128 Childhood Hepatocellular Carcinoma 41
5 c LVR028 Liver Failure, Transient Infantile 28
6 BLC008 Bile Acid Synthesis Defect, Congenital, 2 29
7 NNL002 Nonalcoholic Steatohepatitis 50
8 c GLY008 Glycogen Storage Disease Ii 61
9 P GLY013 Glycogen Storage Disease 59
10 c GLY007 Glycogen Storage Disease Iv 54
11 c GLY019 Glycogen Storage Disease Iiia 50
12 c GLY005 Glycogen Storage Disease Vi 48
13 c GLY011 Glycogen Storage Disease Vii 47
14 c GLY016 Glycogen Storage Disease Ib 39
15 c GLY057 Glycogen Storage Disease X 33
16 c GLY023 Glycogen Storage Disease Type 0 33
17 c GLY042 Glycogen Storage Disease Xi 30
18 c GLY009 Glycogen Storage Disease Xv 26
19 c GLY017 Glycogen Storage Disease Ic 25
20 c GLY059 Glycogen Storage Disease Xiii 24
21 c GLY043 Glycogen Storage Disease Xii 23
22 c GLY093 Glycogen Storage Disease Ixa 14
23 c GLY001 Glycogen Storage Disease Ix 13
24 P LVR013 Liver Disease 72
25 P PLY023 Polycystic Liver Disease 49
26 GLY058 Glycogen Storage Disease 0, Liver 30
27 FTT001 Fatty Liver Disease 59
28 CPT007 Cpt Ii Deficiency, Infantile 28
29 BLD036 Bile Duct Disease 48
30 PHS016 Phosphorylase Kinase Deficiency of Liver and Muscle, Autosomal Recessive 26
31 BLC009 Bile Acid Synthesis Defect, Congenital, 4 29
32 P PRP003 Porphyria Cutanea Tarda 64
33 FSC002 Fascioliasis 39
34 LVR002 Liver Angiosarcoma 39
35 c INF145 Infantile Liver Failure Syndrome 1 24
36 c PRP091 Porphyria Cutanea Tarda, Type I 23
37 c FML324 Familial Porphyria Cutanea Tarda 23
38 HPT074 Hepatic Adenoma, Somatic 44
39 GLY040 Glycogen Storage Disease, Type Ixa1 30
40 MTC063 Mitochondrial Dna Depletion Syndrome 3 32
41 ALC009 Alcoholic Liver Cirrhosis 48
42 BLC011 Bile Acid Synthesis Defect, Congenital, 3 28
43 BLC016 Bile Acid Synthesis Defect, Congenital, 5 23
44 LVR003 Liver Carcinoma in Situ 14
45 CHL068 Cholestasis 58
46 ECH003 Echinococcosis 52
47 INT271 Interstitial Lung and Liver Disease 32
48 P FTT008 Fatty Liver Disease, Nonalcoholic 1 31
49 CMB012 Combined Oxidative Phosphorylation Deficiency 1 29
50 c INF138 Infantile Liver Failure Syndrome 2 19
51 BLC018 Bile Acid Synthesis Defect, Congenital, 6 17
52 DXY001 Deoxyguanosine Kinase Deficiency 15
53 LVR012 Liver Cirrhosis 66
54 P HYP117 Hypertriglyceridemia 61
55 c ACT134 Acute Liver Failure 48
56 HPT014 Hepatorenal Syndrome 45
57 c HYP555 Hypertriglyceridemia, Transient Infantile 30
58 EXT028 Extrahepatic Bile Duct Adenoma 13
59 c PLY146 Polycystic Liver Disease 1 42
60 UND001 Undifferentiated Embryonal Sarcoma of the Liver 35
61 c GLY044 Glycogen Storage Disease Ixc 31
62 INT049 Intrahepatic Bile Duct Adenoma 23
63 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 21
64 CMM001 Common Bile Duct Neoplasm 15
65 c HPT073 Hepatitis C Virus 70
66 P HPT021 Hepatitis 68
67 c VRL010 Viral Hepatitis 58
68 c ATM011 Autoimmune Hepatitis 57
69 c SPN294 Spinocerebellar Ataxia 1 56
70 P SPN301 Spinocerebellar Ataxia 2 55
71 HPT022 Hepatoblastoma 54
72 c SPN293 Spinocerebellar Ataxia 12 52
73 c HPT007 Hepatitis E 51
74 c SPN291 Spinocerebellar Ataxia 7 51
75 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 51
76 BLR001 Biliary Atresia 51
77 c SPN314 Spinocerebellar Ataxia 10 50
78 P PRM006 Primary Biliary Cirrhosis 50
79 c SPN312 Spinocerebellar Ataxia 14 49
80 c HPT015 Hepatitis D 47
81 c SPN296 Spinocerebellar Ataxia 17 47
82 c SPN309 Spinocerebellar Ataxia 6 47
83 c SPN311 Spinocerebellar Ataxia 13 45
84 c SPN305 Spinocerebellar Ataxia 11 44
85 c SPN290 Spinocerebellar Ataxia 15 44
86 c SPN100 Spinocerebellar Ataxia 27 44
87 c SPN308 Spinocerebellar Ataxia 28 44
88 CLN003 Clonorchiasis 42
89 c SPN304 Spinocerebellar Ataxia 8 42
90 c SPN265 Spinocerebellar Ataxia 36 42
91 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
92 c SPN106 Spinocerebellar Ataxia 5 40
93 c SPN103 Spinocerebellar Ataxia 31 39
94 c SPN097 Spinocerebellar Ataxia 23 38
95 c SPN094 Spinocerebellar Ataxia 18 37
96 c SPN099 Spinocerebellar Ataxia 26 34
97 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
98 c SPN299 Spinocerebellar Ataxia 20 34
99 c SPN096 Spinocerebellar Ataxia 21 33
100 c SPN105 Spinocerebellar Ataxia 4 33
101 c SPN095 Spinocerebellar Ataxia 19 33
102 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
103 c SPN266 Spinocerebellar Ataxia 35 32
104 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 32
105 c SPN104 Spinocerebellar Ataxia 34 30
106 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 30
107 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 30
108 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 29
109 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 29
110 c SPN098 Spinocerebellar Ataxia 25 28
111 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
112 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
113 c SPN286 Spinocerebellar Ataxia 40 27
114 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 26
115 c SPN284 Spinocerebellar Ataxia 38 26
116 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 26
117 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
118 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 25
119 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 25
120 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 25
121 c SPN372 Spinocerebellar Ataxia 43 25
122 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 25
123 c SPN247 Spinocerebellar Ataxia Type 19/22 24
124 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 24
125 c SPN102 Spinocerebellar Ataxia 30 23
126 c SPN283 Spinocerebellar Ataxia 37 23
127 c SPN383 Spinocerebellar Ataxia 42 23
128 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
129 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 22
130 BLC012 Bile Acid Malabsorption, Primary 21
131 c SPN323 Spinocerebellar Ataxia 41 20
132 c BLR024 Biliary Cirrhosis, Primary, 1 18
133 c SPN259 Spinocerebellar Ataxia 32 18
134 c SPN107 Spinocerebellar Ataxia 9 17
135 c SPN336 Spinocerebellar Ataxia Type 16 16
136 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 16
137 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 15
138 c BLR016 Biliary Cirrhosis, Primary, 2 15
139 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 14
140 c BLR017 Biliary Cirrhosis, Primary, 3 14
141 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 14
142 c BLR025 Biliary Cirrhosis, Primary, 4 13
143 c BLR026 Biliary Cirrhosis, Primary, 5 13
144 c GRD008 Grid2-Related Spinocerebellar Ataxia 8
145 CNG048 Congenital Hepatic Fibrosis 42
146 P HYP716 Hypermanganesemia with Dystonia 1 28
147 CMM007 Common Bile Duct Disease 24
148 LVR009 Liver Rhabdomyosarcoma 21
149 LVR010 Liver Leiomyosarcoma 17
150 c HYP713 Hypermanganesemia with Dystonia 2 17
151 BLD038 Bile Duct Sarcoma 15
152 ADN003 Adenosquamous Bile Duct Carcinoma 11
153 BLD037 Bile Duct Rhabdomyosarcoma 6
154 c HPT001 Hepatitis C 62
155 c HPT016 Hepatitis B 62
156 CYS008 Cystic Echinococcosis 44
157 BLD005 Bile Duct Mucoepidermoid Carcinoma 32
158 NTM001 Nutmeg Liver 31
159 LVR006 Liver Lymphoma 28
160 HMN004 Hemangioma of Liver 28
161 MXD007 Mixed Hepatoblastoma 24
162 LVR004 Liver Inflammatory Pseudotumor 23
163 LVR005 Liver Leiomyoma 22
164 RJS001 Ruijs-Aalfs Syndrome 22
165 c FTT007 Fatty Liver Disease, Nonalcoholic 2 19
166 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 16
167 HPT011 Hepatocellular Clear Cell Carcinoma 15
168 BLD035 Bile Duct Cystadenoma 11
169 LVR007 Liver Fibroma 11
170 IGG017 Igg4-Related Hepatopathy 9
171 LVR001 Liver Lipoma 8
172 EXT017 Extrahepatic Bile Duct Papillary Adenoma 8
173 SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 8
174 INT037 Intrahepatic Bile Duct Cystadenoma 7
175 EXT014 Extrahepatic Bile Duct Cystadenoma 7
176 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
177 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 6
178 EXT005 Extrahepatic Bile Duct Lipoma 5
179 EXT013 Extrahepatic Bile Duct Leiomyoma 5
180 UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 5
181 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 5
182 PYR019 Pyruvate Kinase Deficiency, Liver Type 3
183 SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3
184 SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2
185 c PRX045 Peroxisome Biogenesis Disorder 1b 53
186 HPT009 Hepatopulmonary Syndrome 47
187 HPT067 Hepatocellular Adenoma 41
188 c PRX059 Peroxisome Biogenesis Disorder 1a 36
189 BLR028 Biliary Atresia, Extrahepatic 31
190 c PRX060 Peroxisome Biogenesis Disorder 5a 31
191 PLS002 Peliosis Hepatis 31
192 c PRX063 Peroxisome Biogenesis Disorder 2a 30
193 c PRX065 Peroxisome Biogenesis Disorder 3a 30
194 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 29
195 c PRX054 Peroxisome Biogenesis Disorder 12a 27
196 c PRX055 Peroxisome Biogenesis Disorder 11a 27
197 c PRX057 Peroxisome Biogenesis Disorder 4a 26
198 c PRX091 Peroxisome Biogenesis Disorder 8a 26
199 CNG002 Congenital Bile Acid Synthesis Defect 25
200 c PRX048 Peroxisome Biogenesis Disorder 10a 25
201 c PRX053 Peroxisome Biogenesis Disorder 14b 25
202 c PRX046 Peroxisome Biogenesis Disorder 7a 25
203 c PRX052 Peroxisome Biogenesis Disorder 13a 25
204 P PRX051 Peroxisome Biogenesis Disorder 6a 25
205 c PRX050 Peroxisome Biogenesis Disorder 9b 24
206 c PRX047 Peroxisome Biogenesis Disorder 5b 23
207 c PRX062 Peroxisome Biogenesis Disorder 8b 22
208 c PRX058 Peroxisome Biogenesis Disorder 4b 22
209 c PRX043 Peroxisome Biogenesis Disorder 6b 22
210 c PRX056 Peroxisome Biogenesis Disorder 11b 21
211 c PRX068 Peroxisome Biogenesis Disorder 7b 20
212 c PLY143 Polycystic Liver Disease 2 18
213 c PRX066 Peroxisome Biogenesis Disorder 3b 18
214 c PRX064 Peroxisome Biogenesis Disorder 2b 18
215 c PRX089 Peroxisome Biogenesis Disorder 10b 16
216 MTC129 Mitochondrial Dna Depletion Syndrome 15 15
217 GRW035 Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 14
218 ALC006 Alcoholic Hepatitis 58
219 HPT008 Hepatic Tuberculosis 37
220 c ALG016 Alagille Syndrome 2 32
221 LVR008 Liver Fibrosarcoma 12
222 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 10
223 c JG1001 Jag1-Related Alagille Syndrome 8
224 c NTC001 Notch2-Related Alagille Syndrome 8
225 P PRP029 Porphyria 59
226 P INT001 Intrahepatic Cholestasis 56
227 c CHL080 Cholestasis, Progressive Familial Intrahepatic 1 46
228 c CHL081 Cholestasis, Progressive Familial Intrahepatic 2 45
229 c ADL096 Adult Hepatocellular Carcinoma 44
230 c CHL082 Cholestasis, Progressive Familial Intrahepatic 3 44
231 c ACT078 Acute Porphyria 44
232 HPT070 Hepatosplenic T-Cell Lymphoma 39
233 HPT004 Hepatic Coma 39
234 DRG002 Drug-Induced Hepatitis 39
235 c CHL120 Cholestasis, Benign Recurrent Intrahepatic 38
236 MDY004 Mody, Type Iii 37
237 HPT081 Hepatic Infarction 35
238 BLR005 Biliary Papillomatosis 33
239 BLR002 Bile Reflux 30
240 3HY004 3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency 30
241 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 29
242 c CHL083 Cholestasis, Progressive Familial Intrahepatic 4 27
243 P ZMM001 Zimmermann-Laband Syndrome 26
244 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 24
245 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 22
246 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 21
247 c ZMM003 Zimmermann-Laband Syndrome 2 19
248 HPT066 Hepatoportal Sclerosis 19
249 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 17
250 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 15
251 BLD007 Bile Duct Signet Ring Cell Carcinoma 14
252 c ABC009 Abcb11-Related Intrahepatic Cholestasis 12
253 PRF001 Perforation of Bile Duct 12
254 SLT015 Solitary Necrotic Nodule of the Liver 12
255 HLB001 Hla-B-Related Altered Drug Metabolism 12
256 PHK002 Phka2-Related Phosphorylase Kinase Deficiency 11
257 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
258 HPT028 Hepatic Cystic Hamartoma 10
259 BLD001 Bile Duct Carcinoma in Situ 10
260 c URD001 Urod-Related Porphyrias 10
261 c ATP006 Atp8b1-Related Intrahepatic Cholestasis 10
262 PRM248 Primary Intrahepatic Lithiasis 9
263 MTC034 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 8
264 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 7
265 DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 7
266 HPT075 Hepatitis B Reinfection Following Liver Transplantation 7
267 IDP083 Idiopathic Peliosis Hepatis 7
268 MTC044 Mitochondrial Respiratory Chain Complex Iii Deficiency, Bcs1l-Related 6
269 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
270 XLN039 X-Linked Liver Glycogenosis Type 2 6
271 MCR005 Macrotrabecular Hepatoblastoma 5
272 TWN009 Twnk-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form 5
273 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
274 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 4
275 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 4
276 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 4
277 PNP003 Pnpla3-Related Susceptibility to Nonalchoholic Fatty Liver Disease 4
278 RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 3
279 P GLL020 Gallbladder Disease 58
280 c HPT003 Hepatitis a 56
281 c CNG415 Congenital Disorder of Glycosylation, Type Ia 48
282 c CNG412 Congenital Disorder of Glycosylation, Type Ii 47
283 P SCL009 Sclerosing Cholangitis 47
284 CRR007 Cirrhosis, Cryptogenic 43
285 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
286 CHL052 Choledochal Cyst 39
287 c GLL024 Gallbladder Disease 1 36
288 c CNG191 Congenital Disorder of Glycosylation, Type Iia 34
289 c CNG208 Congenital Disorder of Glycosylation, Type Iic 34
290 c CNG197 Congenital Disorder of Glycosylation, Type Ih 33
291 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
292 c CNG204 Congenital Disorder of Glycosylation, Type Iih 31
293 c HMC021 Hemochromatosis, Type 2a 31
294 c CNG379 Congenital Disorder of Glycosylation, Type It 31
295 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
296 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
297 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
298 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
299 c HMC034 Hemochromatosis, Type 5 29
300 c CNG188 Congenital Disorder of Glycosylation, Type if 29
301 c CNG403 Congenital Disorder of Glycosylation, Type Ix 28
302 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
303 c CNG389 Congenital Disorder of Glycosylation, Type Iim 28
304 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
305 c CNG383 Congenital Disorder of Glycosylation, Type Iik 27
306 c CNG194 Congenital Disorder of Glycosylation, Type Ig 27
307 c CNG190 Congenital Disorder of Glycosylation, Type Iib 27
308 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
309 c CNG192 Congenital Disorder of Glycosylation, Type Ik 26
310 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
311 c CNG198 Congenital Disorder of Glycosylation, Type Il 26
312 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
313 IGG014 Igg4-Related Sclerosing Cholangitis 26
314 c CNG185 Congenital Disorder of Glycosylation, Type Iig 25
315 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
316 c CNG193 Congenital Disorder of Glycosylation, Type Ip 25
317 c HMC019 Hemochromatosis, Type 2b 24
318 NRT006 North American Indian Childhood Cirrhosis 23
319 c GLL027 Gallbladder Disease 4 23
320 c CNG207 Congenital Disorder of Glycosylation, Type Io 23
321 c CNG497 Congenital Disorder of Glycosylation, Type Iio 23
322 c CNG203 Congenital Disorder of Glycosylation, Type Iii 23
323 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 22
324 c CNG498 Congenital Disorder of Glycosylation, Type Iin 21
325 c CNG504 Congenital Disorder of Glycosylation, Type Iip 21
326 c JVN024 Juvenile Hereditary Hemochromatosis 21
327 c CNG378 Congenital Disorder of Glycosylation, Type Ir 20
328 c SCN059 Secondary Sclerosing Cholangitis 19
329 HYP481 Hyperbiliverdinemia 19
330 c CNG500 Congenital Disorder of Glycosylation, Type 1aa 18
331 c GLL025 Gallbladder Disease 2 18
332 c GLL026 Gallbladder Disease 3 18
333 CNG491 Congenital Portosystemic Shunt 17
334 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 16
335 CRL006 Caroli Disease, Isolated 15
336 GNR029 Generalized Galactose Epimerase Deficiency 15
337 c TFR001 Tfr2-Related Hereditary Hemochromatosis 12
338 c SLC015 Slc40a1-Related Hereditary Hemochromatosis 9
339 c CNG088 Congenital Disorder of Glycosylation Type I/iix 9
340 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
341 c HMP019 Hamp-Related Juvenile Hemochromatosis 9
342 FRR002 Ferro-Cerebro-Cutaneous Syndrome 8
343 IDP084 Idiopathic Ductopenia 8
344 ISL112 Isolated Congenital Hepatic Fibrosis 6
345 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
346 ISL105 Isolated Agenesis of Gallbladder 4
347 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 4
348 ISL110 Isolated Neonatal Sclerosing Cholangitis 4
349 FBR086 Fibrolamellar Carcinoma 45
350 BLD034 Bile Duct Carcinoma 55
351 P ALG028 Alagille Syndrome 1 63
352 LCH005 Lchad Deficiency 41
353 BLR007 Biliary Tract Neoplasm 50
354 WLS001 Wilson Disease 73
355 c GLY060 Glycogen Storage Disease Ia 55
356 P TRC086 Trichohepatoenteric Syndrome 1 51
357 HLL004 Hellp Syndrome 48
358 c TRC078 Trichohepatoenteric Syndrome 2 34
359 EXT027 Extrahepatic Bile Duct Adenocarcinoma 35
360 NDL013 Nodular Regenerative Hyperplasia 47
361 CPT003 Cpt Deficiency, Hepatic, Type Ia 42
362 INT014 Intrahepatic Gall Duct Cancer 15
363 c TYR012 Tyrosinemia, Type I 55
364 CPR001 Coproporphyria 54
365 CHL127 Cholangiocarcinoma, Susceptibility to 47
366 c TYR013 Tyrosinemia, Type Ii 47
367 P TYR004 Tyrosinemia 44
368 c TYR011 Tyrosinemia, Type Iii 41
369 CRL004 Caroli Disease 32
370 RYS001 Reye Syndrome 50
371 MLB001 Mulibrey Nanism 49
372 GLB001 Gilbert Syndrome 56
373 HPT019 Hepatic Encephalopathy 54
374 VSC018 Visceral Steatosis 41
375 CNG436 Congenital Disorder of Deglycosylation 38
376 OPS001 Opisthorchiasis 36
377 BLD019 Bile Duct Cystadenocarcinoma 33
378 IMM140 Immunodeficiency 47 22
379 c GLY006 Glycogen Storage Disease Viii 20
380 BLD002 Bile Duct Mucinous Adenocarcinoma 14
381 BLD006 Bile Duct Clear Cell Adenocarcinoma 14
382 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 14
383 ADN070 Adenocarcinoma of Liver and Intrahepatic Biliary Tract 10
384 TNG005 Tang Hsi Ryu Syndrome 5
385 INT079 Intrahepatic Cholangiocarcinoma 55
386 LVR014 Liver Sarcoma 35
387 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
388 HPT079 Hepatoid Adenocarcinoma 27
389 HPT020 Hepatic Vascular Disease 42
390 BLD032 Bile Duct Adenocarcinoma 38
391 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 25
392 DYK001 Dykes Markes Harper Syndrome 4
393 SCL007 Sclerosing Hepatic Carcinoma 25
394 IMM069 Immunodeficiency, Primary, Autosomal Recessive, Il21r-Related 24
395 BLD063 Bile Duct Cysts 18
396 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 15
397 HPT017 Hepatic Osteogenic Sarcoma 14
398 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 9
399 BLD018 Bladder Hepatoid Adenocarcinoma 6
400 P HRD008 Hereditary Hemorrhagic Telangiectasia 72
401 GLC006 Galactosemia 66
402 CRB011 Cerebrotendinous Xanthomatosis 62
403 P CTR001 Citrullinemia 60
404 CCH002 Coach Syndrome 56
405 DBN001 Dubin-Johnson Syndrome 54
406 HPT046 Hepatic Veno-Occlusive Disease 50
407 c CRG004 Crigler-Najjar Syndrome, Type Ii 48
408 P CNG411 Congenital Disorder of Glycosylation, Type in 48
409 c CHL119 Cholangitis, Primary Sclerosing 47
410 c FRC011 Fructose Intolerance, Hereditary 46
411 GLC011 Galactose Epimerase Deficiency 44
412 EMP007 Emphysema Due to Aat Deficiency 42
413 c HMC010 Hemochromatosis, Type 3 41
414 c HMC009 Hemochromatosis Type 2 40
415 c HMC035 Hemochromatosis, Type 4 38
416 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 38
417 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
418 HYP554 Hyperbilirubinemia, Rotor Type, Digenic 36
419 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 34
420 c CTR142 Citrullinemia, Adult-Onset Type Ii 30
421 HMC038 Hemochromatosis, Neonatal 29
422 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 28
423 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 27
424 P HYP279 Hypercholanemia, Familial 26
425 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 23
426 c CNG386 Congenital Disorder of Glycosylation, Type Iu 22
427 PLY120 Polyglucosan Body Disease, Adult Form 22
428 CRR012 Cirrhotic Cardiomyopathy 20
429 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
430 FLM003 Fulminant Viral Hepatitis 19
431 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
432 CNG062 Congenital Bronchobiliary Fistula 15
433 c ENG003 Eng-Related Hereditary Hemorrhagic Telangiectasia 14
434 c ACV002 Acvrl1-Related Hereditary Hemorrhagic Telangiectasia 13
435 ADN082 Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract 12
436 GLL034 Gallbladder Neuroendocrine Tumor 12
437 CNG340 Congenital Anomaly of Hepatic Vein 12
438 P ACQ013 Acquired Fructose Intolerance 12
439 SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 11
440 c ADL083 Adult-Onset Citrullinemia Type I 8
441 c GDF001 Gdf2-Related Hereditary Hemorrhagic Telangiectasia 8
442 FLL045 Follicular Cholangitis and Pancreatitis 7
443 c SMD005 Smad4-Related Hereditary Hemorrhagic Telangiectasia 7
444 c BTR003 Baat-Related Familial Hypercholanemia 5
445 c EPH002 Ephx1-Related Familial Hypercholanemia 5
446 c TJP001 Tjp2-Related Familial Hypercholanemia 5
447 MTC056 Mitochondrial Dna Depletion Syndrome 4a 45
448 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 46
449 FNC009 Fanconi-Bickel Syndrome 51
450 KLT001 Klatskin's Tumor 43
451 MTC054 Mitochondrial Dna Depletion Syndrome 7 39
452 P END039 Endodermal Sinus Tumor 43
453 JBR006 Joubert Syndrome with Oculorenal Anomalies 35
454 c ADL047 Adult Endodermal Sinus Tumor 18
455 P HMC003 Hemochromatosis 72
456 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 61
457 P CRG003 Crigler-Najjar Syndrome, Type I 59
458 RYN003 Reynolds Syndrome 51
459 PRM236 Primary Biliary Cholangitis 49
460 NNT017 Neonatal Adrenoleukodystrophy 49
461 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 46
462 P INF016 Infantile Epileptic Encephalopathy 44
463 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 44
464 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 41
465 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 36
466 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 35
467 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
468 GRC001 Gracile Syndrome 32
469 IRN008 Iron Overload in Africa 31
470 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 30
471 CHL073 Cholestasis-Lymphedema Syndrome 29
472 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 28
473 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 27
474 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 27
475 PRM205 Primary Hepatic Neuroendocrine Carcinoma 26
476 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 25
477 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
478 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
479 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
480 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 25
481 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 24
482 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 24
483 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
484 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
485 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 23
486 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
487 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 23
488 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 23
489 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 22
490 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
491 HYP618 Hyperbilirubinemia, Familial Transient Neonatal 22
492 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
493 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 22
494 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
495 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
496 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
497 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
498 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
499 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
500 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
501 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
502 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 20
503 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 20
504 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
505 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 19
506 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 19
507 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 19
508 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 19
509 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 19
510 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 18
511 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 18
512 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 17
513 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 17
514 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 17
515 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 17
516 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 16
517 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 16
518 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 16
519 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 16
520 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 15
521 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 13
522 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
523 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 12
524 PRM285 Primitive Portal Vein Thrombosis 9
525 c ZMM002 Zimmermann-Laband Syndrome 1 32
526 CYS001 Cystic Fibrosis 86
527 WLM001 Wolman Disease 58
528 P BDD001 Budd-Chiari Syndrome 56
529 P MCK022 Meckel Syndrome 1 54
530 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 29
531 c MCK017 Meckel Syndrome 4 27
532 c MCK024 Meckel Syndrome 3 27
533 c MCK025 Meckel Syndrome 2 26
534 c MCK016 Meckel Syndrome 6 25
535 c MCK015 Meckel Syndrome 7 24
536 c MCK019 Meckel Syndrome 5 24
537 c MCK026 Meckel Syndrome 12 23
538 c MCK018 Meckel Syndrome 8 21
539 c MCK021 Meckel Syndrome 9 18
540 c MCK027 Meckel Syndrome 11 17
541 c MCK023 Meckel Syndrome 10 16
542 c MCK028 Meckel Syndrome 13 16
543 c TCT005 Tctn2-Related Meckel Syndrome 13
544 c B9D001 B9d1-Related Meckel Syndrome 12
545 c B9D002 B9d2-Related Meckel Syndrome 12
546 c TMM014 Tmem231-Related Meckel Syndrome 12
547 c KF1003 Kif14-Related Meckel Syndrome 9
548 c CC2002 Cc2d2a-Related Meckel Syndrome 9
549 c CP2004 Cep290-Related Meckel Syndrome 7
550 c MKS002 Mks1-Related Meckel Syndrome 7
551 c NPH041 Nphp3-Related Meckel Syndrome 7
552 c RPG002 Rpgrip1l-Related Meckel Syndrome 7
553 c TMM004 Tmem216-Related Meckel Syndrome 7
554 c TMM007 Tmem67-Related Meckel Syndrome 7
555 c F5R001 F5-Related Budd-Chiari Syndrome 5
556 c JK2001 Jak2-Related Budd-Chiari Syndrome 5



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