Liver Diseases Category (569 diseases)


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

# Family MCID Name MIFTS
1 P HPT023 Hepatocellular Carcinoma 94
2 BLC007 Bile Acid Synthesis Defect, Congenital, 1 31
3 CHL128 Childhood Hepatocellular Carcinoma 49
4 MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 16
5 BLC008 Bile Acid Synthesis Defect, Congenital, 2 29
6 c LVR030 Liver Failure, Infantile, Transient 27
7 P NNL004 Nonalcoholic Fatty Liver Disease 51
8 c GLY008 Glycogen Storage Disease Ii 64
9 P GLY013 Glycogen Storage Disease 61
10 c GLY003 Glycogen Storage Disease Iii 55
11 c GLY004 Glycogen Storage Disease V 54
12 c GLY007 Glycogen Storage Disease Iv 51
13 c GLY005 Glycogen Storage Disease Vi 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 35
17 c GLY023 Glycogen Storage Disease Type 0 34
18 c GLY057 Glycogen Storage Disease X 29
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 62
26 PLY023 Polycystic Liver Disease 53
27 GLY058 Glycogen Storage Disease 0, Liver 30
28 FTT001 Fatty Liver Disease 60
29 P LVR013 Liver Disease 75
30 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60
31 HPT082 Hepatic Adenomas, Familial 53
32 c GLY097 Glycogen Storage Disease Ixb 26
33 P PRP003 Porphyria Cutanea Tarda 66
34 c PRP091 Porphyria Cutanea Tarda, Type I 33
35 BLC009 Bile Acid Synthesis Defect, Congenital, 4 28
36 c FML324 Familial Porphyria Cutanea Tarda 22
37 FSC002 Fascioliasis 41
38 c INF145 Infantile Liver Failure Syndrome 1 35
39 BLD036 Bile Duct Disease 51
40 PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 45
41 CMB012 Combined Oxidative Phosphorylation Deficiency 1 31
42 GLY099 Glycogen Storage Disease Ixa1 30
43 INT271 Interstitial Lung and Liver Disease 31
44 ALC009 Alcoholic Liver Cirrhosis 52
45 LVR002 Liver Angiosarcoma 46
46 BLC011 Bile Acid Synthesis Defect, Congenital, 3 23
47 BLC016 Bile Acid Synthesis Defect, Congenital, 5 18
48 LVR012 Liver Cirrhosis 68
49 c FTT008 Fatty Liver Disease, Nonalcoholic 1 39
50 MTC063 Mitochondrial Dna Depletion Syndrome 3 29
51 c ACT134 Acute Liver Failure 52
52 HPT014 Hepatorenal Syndrome 49
53 PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 16
54 LVR003 Liver Carcinoma in Situ 9
55 CHL068 Cholestasis 60
56 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 60
57 c SPN294 Spinocerebellar Ataxia 1 58
58 P SPN301 Spinocerebellar Ataxia 2 56
59 HPT022 Hepatoblastoma 55
60 c SPN291 Spinocerebellar Ataxia 7 53
61 c SPN309 Spinocerebellar Ataxia 6 49
62 c SPN293 Spinocerebellar Ataxia 12 48
63 c SPN314 Spinocerebellar Ataxia 10 47
64 c SPN312 Spinocerebellar Ataxia 14 46
65 c SPN296 Spinocerebellar Ataxia 17 46
66 c SPN100 Spinocerebellar Ataxia 27 45
67 c SPN311 Spinocerebellar Ataxia 13 44
68 c SPN305 Spinocerebellar Ataxia 11 43
69 c SPN265 Spinocerebellar Ataxia 36 42
70 c SPN290 Spinocerebellar Ataxia 15 40
71 c SPN103 Spinocerebellar Ataxia 31 40
72 c SPN106 Spinocerebellar Ataxia 5 40
73 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 40
74 c SPN308 Spinocerebellar Ataxia 28 39
75 c SPN304 Spinocerebellar Ataxia 8 38
76 c SPN097 Spinocerebellar Ataxia 23 37
77 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
78 c SPN299 Spinocerebellar Ataxia 20 36
79 c SPN094 Spinocerebellar Ataxia 18 36
80 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
81 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 32
82 c SPN266 Spinocerebellar Ataxia 35 32
83 c SPN101 Spinocerebellar Ataxia 29 32
84 c SPN105 Spinocerebellar Ataxia 4 31
85 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
86 c SPN095 Spinocerebellar Ataxia 19 31
87 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
88 c SPN099 Spinocerebellar Ataxia 26 31
89 c SPN096 Spinocerebellar Ataxia 21 30
90 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
91 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
92 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 30
93 c SPN104 Spinocerebellar Ataxia 34 29
94 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
95 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 28
96 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 28
97 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 27
98 c SPN383 Spinocerebellar Ataxia 42 27
99 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
100 c SPN098 Spinocerebellar Ataxia 25 27
101 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 27
102 c SPN247 Spinocerebellar Ataxia Type 19/22 27
103 c SPN283 Spinocerebellar Ataxia 37 27
104 c SPN284 Spinocerebellar Ataxia 38 27
105 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 26
106 c SPN372 Spinocerebellar Ataxia 43 26
107 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
108 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
109 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
110 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 25
111 c SPN286 Spinocerebellar Ataxia 40 24
112 c SPN323 Spinocerebellar Ataxia 41 23
113 c SPN259 Spinocerebellar Ataxia 32 21
114 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 21
115 c INF138 Infantile Liver Failure Syndrome 2 21
116 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 21
117 c SPN420 Spinocerebellar Ataxia 46 21
118 c SPN419 Spinocerebellar Ataxia 45 20
119 c SPN418 Spinocerebellar Ataxia 44 20
120 c SPN102 Spinocerebellar Ataxia 30 20
121 c SPN107 Spinocerebellar Ataxia 9 19
122 BLC018 Bile Acid Synthesis Defect, Congenital, 6 18
123 c SPN421 Spinocerebellar Ataxia 47 17
124 c SPN336 Spinocerebellar Ataxia Type 16 17
125 DXY001 Deoxyguanosine Kinase Deficiency 16
126 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 15
127 c GRD008 Grid2-Related Spinocerebellar Ataxia 9
128 P PRM006 Primary Biliary Cirrhosis 53
129 P HYP750 Hypertriglyceridemia, Familial 44
130 c BLR024 Biliary Cirrhosis, Primary, 1 36
131 c HYP555 Hypertriglyceridemia, Transient Infantile 31
132 c BLR016 Biliary Cirrhosis, Primary, 2 17
133 c BLR017 Biliary Cirrhosis, Primary, 3 13
134 c BLR025 Biliary Cirrhosis, Primary, 4 10
135 c BLR026 Biliary Cirrhosis, Primary, 5 10
136 EXT028 Extrahepatic Bile Duct Adenoma 8
137 UND001 Undifferentiated Embryonal Sarcoma of the Liver 32
138 c GLY044 Glycogen Storage Disease Ixc 31
139 BLD005 Bile Duct Mucoepidermoid Carcinoma 27
140 INT049 Intrahepatic Bile Duct Adenoma 25
141 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 25
142 LVR004 Liver Inflammatory Pseudotumor 25
143 c VSC053 Visceral Steatosis, Congenital 21
144 HPT011 Hepatocellular Clear Cell Carcinoma 13
145 CMM001 Common Bile Duct Neoplasm 8
146 EXT014 Extrahepatic Bile Duct Cystadenoma 8
147 INT037 Intrahepatic Bile Duct Cystadenoma 8
148 LVR007 Liver Fibroma 7
149 P HPT021 Hepatitis 76
150 c HPT073 Hepatitis C Virus 72
151 c ATM011 Autoimmune Hepatitis 62
152 c VRL010 Viral Hepatitis 59
153 ECH003 Echinococcosis 56
154 c HPT007 Hepatitis E 53
155 c HPT015 Hepatitis D 52
156 PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 33
157 CNG002 Congenital Bile Acid Synthesis Defect 26
158 BLC012 Bile Acid Malabsorption, Primary 18
159 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
160 HPT009 Hepatopulmonary Syndrome 53
161 P CNG048 Congenital Hepatic Fibrosis 41
162 BLR028 Biliary Atresia, Extrahepatic 32
163 CMM007 Common Bile Duct Disease 23
164 LVR010 Liver Leiomyosarcoma 15
165 LVR009 Liver Rhabdomyosarcoma 15
166 PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 12
167 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 12
168 BLD038 Bile Duct Sarcoma 10
169 ADN003 Adenosquamous Bile Duct Carcinoma 9
170 BLD037 Bile Duct Rhabdomyosarcoma 8
171 c HPT001 Hepatitis C 71
172 c HPT016 Hepatitis B 67
173 PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 62
174 c ADL096 Adult Hepatocellular Carcinoma 48
175 CLN003 Clonorchiasis 47
176 CYS008 Cystic Echinococcosis 46
177 HMN004 Hemangioma of Liver 30
178 NTM001 Nutmeg Liver 28
179 RJS001 Ruijs-Aalfs Syndrome 22
180 LVR005 Liver Leiomyoma 20
181 LVR006 Liver Lymphoma 20
182 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
183 MXD007 Mixed Hepatoblastoma 19
184 IGG017 Igg4-Related Hepatopathy 13
185 c FTT007 Fatty Liver Disease, Nonalcoholic 2 12
186 PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 12
187 BLD035 Bile Duct Cystadenoma 12
188 MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect 11
189 LVR001 Liver Lipoma 9
190 BLD007 Bile Duct Signet Ring Cell Carcinoma 9
191 CYT022 Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 8
192 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
193 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 7
194 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
195 EXT005 Extrahepatic Bile Duct Lipoma 5
196 EXT013 Extrahepatic Bile Duct Leiomyoma 5
197 EXT017 Extrahepatic Bile Duct Papillary Adenoma 5
198 UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 5
199 SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 5
200 PYR019 Pyruvate Kinase Deficiency, Liver Type 3
201 SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3
202 SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2
203 c PRX045 Peroxisome Biogenesis Disorder 1b 56
204 HPT067 Hepatocellular Adenoma 43
205 c PRX059 Peroxisome Biogenesis Disorder 1a 40
206 PLS002 Peliosis Hepatis 36
207 c PRX055 Peroxisome Biogenesis Disorder 11a 32
208 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
209 c PRX063 Peroxisome Biogenesis Disorder 2a 29
210 c PRX060 Peroxisome Biogenesis Disorder 5a 28
211 c PRX053 Peroxisome Biogenesis Disorder 14b 27
212 c PRX056 Peroxisome Biogenesis Disorder 11b 27
213 c PRX054 Peroxisome Biogenesis Disorder 12a 26
214 c PRX065 Peroxisome Biogenesis Disorder 3a 24
215 c PRX091 Peroxisome Biogenesis Disorder 8a 24
216 c PRX057 Peroxisome Biogenesis Disorder 4a 24
217 c PRX048 Peroxisome Biogenesis Disorder 10a 24
218 c PRX046 Peroxisome Biogenesis Disorder 7a 24
219 c PRX052 Peroxisome Biogenesis Disorder 13a 23
220 c PRX043 Peroxisome Biogenesis Disorder 6b 22
221 c PRX051 Peroxisome Biogenesis Disorder 6a 22
222 c PRX050 Peroxisome Biogenesis Disorder 9b 22
223 c PRX058 Peroxisome Biogenesis Disorder 4b 22
224 c PRX047 Peroxisome Biogenesis Disorder 5b 22
225 c PRX062 Peroxisome Biogenesis Disorder 8b 21
226 c PRX066 Peroxisome Biogenesis Disorder 3b 20
227 MTC129 Mitochondrial Dna Depletion Syndrome 15 19
228 P PRX064 Peroxisome Biogenesis Disorder 2b 19
229 c PRX068 Peroxisome Biogenesis Disorder 7b 18
230 GRW035 Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 18
231 c PRX089 Peroxisome Biogenesis Disorder 10b 18
232 ALC006 Alcoholic Hepatitis 62
233 PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 52
234 HPT008 Hepatic Tuberculosis 37
235 c ALG016 Alagille Syndrome 2 27
236 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 11
237 LVR008 Liver Fibrosarcoma 7
238 P MTR004 Maturity-Onset Diabetes of the Young 60
239 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 43
240 DRG002 Drug-Induced Hepatitis 41
241 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 41
242 HPT004 Hepatic Coma 40
243 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 38
244 BLR005 Biliary Papillomatosis 36
245 BLR002 Bile Reflux 34
246 HPT081 Hepatic Infarction 30
247 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 29
248 P ZMM001 Zimmermann-Laband Syndrome 28
249 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 27
250 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 26
251 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
252 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 24
253 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 22
254 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 21
255 HPT066 Hepatoportal Sclerosis 20
256 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 19
257 c ZMM003 Zimmermann-Laband Syndrome 2 19
258 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 18
259 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 18
260 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 18
261 HPT028 Hepatic Cystic Hamartoma 13
262 INT039 Intrahepatic Biliary Papillomatosis 13
263 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 12
264 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 12
265 SLT015 Solitary Necrotic Nodule of the Liver 11
266 PRM248 Primary Intrahepatic Lithiasis 9
267 EXT015 Extrahepatic Biliary Papillomatosis 9
268 PRF001 Perforation of Bile Duct 8
269 HPT075 Hepatitis B Reinfection Following Liver Transplantation 7
270 IDP083 Idiopathic Peliosis Hepatis 7
271 LVR029 Liver Fibrocystic Disease and Polydactyly 7
272 BLD001 Bile Duct Carcinoma in Situ 6
273 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 6
274 MCR005 Macrotrabecular Hepatoblastoma 6
275 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
276 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
277 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 5
278 DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 5
279 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
280 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
281 RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 3
282 P GLL020 Gallbladder Disease 64
283 c HPT003 Hepatitis a 61
284 P SCL009 Sclerosing Cholangitis 53
285 c CNG415 Congenital Disorder of Glycosylation, Type Ia 52
286 c CNG412 Congenital Disorder of Glycosylation, Type Ii 46
287 c CNG208 Congenital Disorder of Glycosylation, Type Iic 42
288 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
289 c CNG191 Congenital Disorder of Glycosylation, Type Iia 36
290 c CNG197 Congenital Disorder of Glycosylation, Type Ih 35
291 c CNG379 Congenital Disorder of Glycosylation, Type It 34
292 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
293 c GLL024 Gallbladder Disease 1 30
294 c CNG205 Congenital Disorder of Glycosylation, Type Ij 30
295 c CNG204 Congenital Disorder of Glycosylation, Type Iih 30
296 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
297 c CNG200 Congenital Disorder of Glycosylation, Type Iq 30
298 c CNG188 Congenital Disorder of Glycosylation, Type if 30
299 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
300 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
301 c CNG196 Congenital Disorder of Glycosylation, Type Ic 29
302 c CNG416 Congenital Disorder of Glycosylation, Type Iy 28
303 c CNG194 Congenital Disorder of Glycosylation, Type Ig 28
304 c CNG190 Congenital Disorder of Glycosylation, Type Iib 28
305 c CNG198 Congenital Disorder of Glycosylation, Type Il 28
306 IGG014 Igg4-Related Sclerosing Cholangitis 28
307 c CNG389 Congenital Disorder of Glycosylation, Type Iim 27
308 c CNG187 Congenital Disorder of Glycosylation, Type Iid 27
309 c CNG497 Congenital Disorder of Glycosylation, Type Iio 27
310 c CNG383 Congenital Disorder of Glycosylation, Type Iik 26
311 c CNG201 Congenital Disorder of Glycosylation, Type Iij 26
312 c CNG209 Congenital Disorder of Glycosylation, Type Iif 26
313 c CNG207 Congenital Disorder of Glycosylation, Type Io 26
314 c CNG414 Congenital Disorder of Glycosylation, Type Iil 26
315 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 26
316 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 25
317 c CNG378 Congenital Disorder of Glycosylation, Type Ir 25
318 CRL006 Caroli Disease, Isolated 25
319 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
320 c CNG504 Congenital Disorder of Glycosylation, Type Iip 25
321 c GLL027 Gallbladder Disease 4 24
322 c CNG498 Congenital Disorder of Glycosylation, Type Iin 24
323 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
324 c CNG193 Congenital Disorder of Glycosylation, Type Ip 23
325 NRT006 North American Indian Childhood Cirrhosis 23
326 c CNG185 Congenital Disorder of Glycosylation, Type Iig 23
327 c CNG203 Congenital Disorder of Glycosylation, Type Iii 22
328 HYP481 Hyperbiliverdinemia 21
329 c SCN059 Secondary Sclerosing Cholangitis 21
330 CNG491 Congenital Portosystemic Shunt 15
331 GNR029 Generalized Galactose Epimerase Deficiency 14
332 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
333 c GLL025 Gallbladder Disease 2 10
334 c GLL026 Gallbladder Disease 3 10
335 FRR002 Ferro-Cerebro-Cutaneous Syndrome 9
336 IDP084 Idiopathic Ductopenia 8
337 ISL112 Isolated Congenital Hepatic Fibrosis 7
338 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
339 IDP071 Idiopathic Copper-Associated Cirrhosis 5
340 ISL105 Isolated Agenesis of Gallbladder 5
341 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 4
342 ISL110 Isolated Neonatal Sclerosing Cholangitis 4
343 FBR086 Fibrolamellar Carcinoma 51
344 BLR007 Biliary Tract Neoplasm 53
345 P ALG028 Alagille Syndrome 1 73
346 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
347 MTC056 Mitochondrial Dna Depletion Syndrome 4a 51
348 P TRC086 Trichohepatoenteric Syndrome 1 54
349 c TRC078 Trichohepatoenteric Syndrome 2 34
350 WLS001 Wilson Disease 71
351 CHL065 Cholangiocarcinoma 63
352 c GLY060 Glycogen Storage Disease Ia 57
353 c TYR012 Tyrosinemia, Type I 54
354 HLL004 Hellp Syndrome 52
355 P TYR004 Tyrosinemia 48
356 c TYR013 Tyrosinemia, Type Ii 46
357 c TYR011 Tyrosinemia, Type Iii 42
358 BLR001 Biliary Atresia 57
359 EXT027 Extrahepatic Bile Duct Adenocarcinoma 36
360 NDL013 Nodular Regenerative Hyperplasia 52
361 CRN295 Carnitine Palmitoyltransferase I Deficiency 46
362 BLD019 Bile Duct Cystadenocarcinoma 30
363 BLD002 Bile Duct Mucinous Adenocarcinoma 10
364 BLD006 Bile Duct Clear Cell Adenocarcinoma 9
365 CPR004 Coproporphyria, Hereditary 56
366 CRL004 Caroli Disease 40
367 LVR014 Liver Sarcoma 30
368 RYS001 Reye Syndrome 49
369 MLB001 Mulibrey Nanism 46
370 HPT019 Hepatic Encephalopathy 58
371 GLB001 Gilbert Syndrome 56
372 P CNG436 Congenital Disorder of Deglycosylation 41
373 OPS001 Opisthorchiasis 38
374 P VSC018 Visceral Steatosis 37
375 IMM140 Immunodeficiency 47 20
376 INT014 Intrahepatic Gall Duct Cancer 12
377 HPT017 Hepatic Osteogenic Sarcoma 10
378 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 7
379 TNG005 Tang Hsi Ryu Syndrome 7
380 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 6
381 ADN087 Adenocarcinoma of the Liver and Intrahepatic Biliary Tract 5
382 PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 58
383 INT079 Intrahepatic Cholangiocarcinoma 52
384 HPT070 Hepatosplenic T-Cell Lymphoma 43
385 HPT079 Hepatoid Adenocarcinoma 30
386 MTC058 Mitochondrial Dna Depletion Syndrome 6 29
387 NNL002 Nonalcoholic Steatohepatitis 50
388 BLD063 Bile Duct Cysts 46
389 BLD032 Bile Duct Adenocarcinoma 39
390 HPT020 Hepatic Vascular Disease 36
391 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
392 c GLY006 Glycogen Storage Disease Viii 20
393 DYK001 Dykes Markes Harper Syndrome 7
394 SCL007 Sclerosing Hepatic Carcinoma 25
395 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
396 IMM191 Immunodeficiency 56 22
397 DST001 Distal Biliary Tract Carcinoma 20
398 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
399 NRD050 Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 14
400 BLD018 Bladder Hepatoid Adenocarcinoma 6
401 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
402 GLC006 Galactosemia 65
403 CRB011 Cerebrotendinous Xanthomatosis 63
404 P CNG411 Congenital Disorder of Glycosylation, Type in 62
405 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
406 c CHL119 Cholangitis, Primary Sclerosing 59
407 c FRC011 Fructose Intolerance, Hereditary 56
408 DBN001 Dubin-Johnson Syndrome 55
409 c CRG004 Crigler-Najjar Syndrome, Type Ii 52
410 CCH002 Coach Syndrome 50
411 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 49
412 GLC011 Galactose Epimerase Deficiency 45
413 c HMC009 Hemochromatosis Type 2 42
414 c HMC010 Hemochromatosis, Type 3 42
415 HYP236 Hyperbilirubinemia, Rotor Type 40
416 c HMC035 Hemochromatosis, Type 4 40
417 c HMC021 Hemochromatosis, Type 2a 40
418 HMC038 Hemochromatosis, Neonatal 37
419 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
420 P CTR177 Citrullinemia, Type Ii, Adult-Onset 35
421 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
422 c HMC034 Hemochromatosis, Type 5 31
423 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 31
424 PLY158 Polyglucosan Body Neuropathy, Adult Form 29
425 c HYP716 Hypermanganesemia with Dystonia 1 28
426 c CNG386 Congenital Disorder of Glycosylation, Type Iu 24
427 c HMC019 Hemochromatosis, Type 2b 23
428 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 22
429 CRR012 Cirrhotic Cardiomyopathy 22
430 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
431 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
432 HYP279 Hypercholanemia, Familial 21
433 c HYP713 Hypermanganesemia with Dystonia 2 21
434 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 20
435 PRT112 Portal Hypertension, Noncirrhotic 20
436 P HYP821 Hypermanganesemia with Dystonia 18
437 P JVN024 Juvenile Hereditary Hemochromatosis 18
438 FLM003 Fulminant Viral Hepatitis 17
439 CNG062 Congenital Bronchobiliary Fistula 16
440 P ACQ013 Acquired Fructose Intolerance 14
441 GLL034 Gallbladder Neuroendocrine Tumor 14
442 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 12
443 c TFR001 Tfr2-Related Hereditary Hemochromatosis 12
444 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
445 c ADL083 Adult-Onset Citrullinemia Type I 8
446 FLL045 Follicular Cholangitis and Pancreatitis 8
447 ADN082 Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract 7
448 SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 7
449 CNG340 Congenital Anomaly of Hepatic Vein 6
450 3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 37
451 FNC009 Fanconi-Bickel Syndrome 53
452 KLT001 Klatskin's Tumor 49
453 MTC054 Mitochondrial Dna Depletion Syndrome 7 41
454 P INT001 Intrahepatic Cholestasis 60
455 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 52
456 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
457 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 46
458 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 43
459 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 25
460 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 21
461 P END039 Endodermal Sinus Tumor 45
462 JBR006 Joubert Syndrome with Oculorenal Anomalies 43
463 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
464 c ADL047 Adult Endodermal Sinus Tumor 9
465 c HMC039 Hemochromatosis, Type 1 70
466 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 67
467 P CRG003 Crigler-Najjar Syndrome, Type I 61
468 ALP103 Alpha-1-Antitrypsin Deficiency 61
469 PRM236 Primary Biliary Cholangitis 55
470 P INF016 Infantile Epileptic Encephalopathy 54
471 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 52
472 NNT017 Neonatal Adrenoleukodystrophy 52
473 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 48
474 RYN003 Reynolds Syndrome 47
475 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
476 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 37
477 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 35
478 CHL073 Cholestasis-Lymphedema Syndrome 34
479 IRN008 Iron Overload in Africa 32
480 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 32
481 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 32
482 GRC001 Gracile Syndrome 31
483 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 30
484 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 28
485 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 27
486 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 26
487 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 26
488 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 26
489 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 25
490 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 24
491 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 24
492 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 23
493 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 23
494 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 23
495 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
496 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
497 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
498 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 22
499 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 22
500 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 22
501 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
502 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 22
503 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 22
504 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 22
505 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 21
506 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 21
507 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 21
508 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 21
509 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 21
510 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 21
511 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 21
512 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 21
513 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 20
514 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 20
515 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 20
516 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 20
517 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 20
518 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 20
519 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 20
520 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 20
521 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 20
522 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 20
523 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 20
524 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 20
525 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 20
526 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 20
527 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 20
528 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 19
529 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 19
530 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 19
531 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 18
532 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 17
533 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 17
534 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 16
535 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 16
536 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 16
537 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 16
538 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 15
539 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 15
540 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
541 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 15
542 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 14
543 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 14
544 PRM285 Primitive Portal Vein Thrombosis 12
545 c INF166 Infantile Epileptic Encephalopathy 55 9
546 c INF169 Infantile Epileptic Encephalopathy 59 9
547 c INF165 Infantile Epileptic Encephalopathy 56 8
548 c INF167 Infantile Epileptic Encephalopathy 57 8
549 c INF168 Infantile Epileptic Encephalopathy 58 8
550 HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 40
551 c ZMM002 Zimmermann-Laband Syndrome 1 37
552 CYS001 Cystic Fibrosis 84
553 LYS012 Lysosomal Acid Lipase Deficiency 60
554 P MCK013 Meckel Syndrome, Type 1 59
555 BDD001 Budd-Chiari Syndrome 58
556 HPT046 Hepatic Veno-Occlusive Disease 57
557 c MCK033 Meckel Syndrome, Type 4 31
558 c MCK012 Meckel Syndrome, Type 6 30
559 c MCK030 Meckel Syndrome, Type 7 30
560 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 28
561 c MCK032 Meckel Syndrome, Type 3 26
562 c MCK031 Meckel Syndrome, Type 2 23
563 c MCK034 Meckel Syndrome, Type 8 23
564 c MCK014 Meckel Syndrome, Type 5 22
565 c MCK035 Meckel Syndrome, Type 10 22
566 c MCK026 Meckel Syndrome 12 22
567 c MCK036 Meckel Syndrome, Type 9 20
568 c MCK028 Meckel Syndrome 13 20
569 c MCK020 Meckel Syndrome, Type 11 19



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