Liver Diseases Category (680 diseases)


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

# Family MCID Name MIFTS
1 P HPT023 Hepatocellular Carcinoma 98
2 CHL128 Childhood Hepatocellular Carcinoma 49
3 MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 19
4 c LVR030 Liver Failure, Infantile, Transient 27
5 P NNL004 Nonalcoholic Fatty Liver Disease 55
6 PLY023 Polycystic Liver Disease 55
7 P BLD062 Bile Duct Cancer 59
8 GLY058 Glycogen Storage Disease 0, Liver 30
9 FTT001 Fatty Liver Disease 66
10 P LVR013 Liver Disease 75
11 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60
12 c INF145 Infantile Liver Failure Syndrome 1 57
13 HPT082 Hepatic Adenomas, Familial 51
14 MTC103 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 13
15 P PRP003 Porphyria Cutanea Tarda 67
16 c PRP091 Porphyria Cutanea Tarda, Type I 33
17 c FML324 Familial Porphyria Cutanea Tarda 30
18 FSC002 Fascioliasis 45
19 CMB012 Combined Oxidative Phosphorylation Deficiency 1 31
20 GLY099 Glycogen Storage Disease Ixa1 30
21 P BLD036 Bile Duct Disease 47
22 INT271 Interstitial Lung and Liver Disease 34
23 ALC009 Alcoholic Liver Cirrhosis 53
24 LVR002 Liver Angiosarcoma 49
25 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 59
26 c FTT008 Fatty Liver Disease, Nonalcoholic 1 60
27 c ACT134 Acute Liver Failure 53
28 HPT014 Hepatorenal Syndrome 50
29 LVR003 Liver Carcinoma in Situ 10
30 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 17
31 CHL068 Cholestasis 60
32 HPT022 Hepatoblastoma 56
33 c INF138 Infantile Liver Failure Syndrome 2 22
34 DXY001 Deoxyguanosine Kinase Deficiency 17
35 P HYP750 Hypertriglyceridemia, Familial 60
36 P PRM006 Primary Biliary Cirrhosis 53
37 c HYP555 Hypertriglyceridemia, Transient Infantile 41
38 c BLR024 Biliary Cirrhosis, Primary, 1 38
39 BLD033 Bile Duct Adenoma 34
40 c BLR016 Biliary Cirrhosis, Primary, 2 13
41 c BLR025 Biliary Cirrhosis, Primary, 4 11
42 c BLR017 Biliary Cirrhosis, Primary, 3 11
43 EXT028 Extrahepatic Bile Duct Adenoma 11
44 c BLR026 Biliary Cirrhosis, Primary, 5 10
45 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 62
46 UND001 Undifferentiated Embryonal Sarcoma of the Liver 33
47 BLD005 Bile Duct Mucoepidermoid Carcinoma 31
48 LVR004 Liver Inflammatory Pseudotumor 29
49 INT049 Intrahepatic Bile Duct Adenoma 27
50 c VSC053 Visceral Steatosis, Congenital 25
51 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
52 HPT011 Hepatocellular Clear Cell Carcinoma 13
53 EXT014 Extrahepatic Bile Duct Cystadenoma 9
54 INT037 Intrahepatic Bile Duct Cystadenoma 9
55 c CMM001 Common Bile Duct Neoplasm 8
56 LVR007 Liver Fibroma 7
57 ECH003 Echinococcosis 59
58 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 36
59 NTM001 Nutmeg Liver 30
60 BLC012 Bile Acid Malabsorption, Primary 24
61 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 11
62 P CNG048 Congenital Hepatic Fibrosis 41
63 BLR028 Biliary Atresia, Extrahepatic 32
64 c CMM007 Common Bile Duct Disease 21
65 LVR010 Liver Leiomyosarcoma 19
66 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 15
67 LVR009 Liver Rhabdomyosarcoma 15
68 BLD038 Bile Duct Sarcoma 14
69 BLD035 Bile Duct Cystadenoma 14
70 ADN003 Adenosquamous Bile Duct Carcinoma 11
71 BLD037 Bile Duct Rhabdomyosarcoma 11
72 SQM004 Squamous Cell Bile Duct Carcinoma 10
73 EXT005 Extrahepatic Bile Duct Lipoma 8
74 EXT017 Extrahepatic Bile Duct Papillary Adenoma 8
75 EXT013 Extrahepatic Bile Duct Leiomyoma 8
76 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 66
77 c ADL096 Adult Hepatocellular Carcinoma 48
78 CYS008 Cystic Echinococcosis 48
79 CLN003 Clonorchiasis 48
80 HPT067 Hepatocellular Adenoma 42
81 HMN004 Hemangioma of Liver 36
82 LVR005 Liver Leiomyoma 27
83 LVR006 Liver Lymphoma 25
84 RJS001 Ruijs-Aalfs Syndrome 22
85 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 20
86 MXD007 Mixed Hepatoblastoma 20
87 IGG017 Igg4-Related Hepatopathy 20
88 LVR001 Liver Lipoma 14
89 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 14
90 c MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect 13
91 c FTT007 Fatty Liver Disease, Nonalcoholic 2 13
92 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 13
93 BLD007 Bile Duct Signet Ring Cell Carcinoma 10
94 CYT022 Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 8
95 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 8
96 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
97 UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 5
98 SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 5
99 P MTC140 Mitochondrial Dna Maintenance Defects 4
100 SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 4
101 SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 3
102 PYR019 Pyruvate Kinase Deficiency, Liver Type 3
103 DRG002 Drug-Induced Hepatitis 41
104 PLS002 Peliosis Hepatis 37
105 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 31
106 GRW035 Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 19
107 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 18
108 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 6
109 P ALG028 Alagille Syndrome 1 72
110 c HPT073 Hepatitis C Virus 67
111 ALC006 Alcoholic Hepatitis 63
112 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 54
113 c GLL024 Gallbladder Disease 1 51
114 HPT008 Hepatic Tuberculosis 42
115 SCL056 Sclerosing Cholangitis, Neonatal 36
116 c ALG016 Alagille Syndrome 2 30
117 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 21
118 PRT112 Portal Hypertension, Noncirrhotic 20
119 LVR008 Liver Fibrosarcoma 7
120 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 66
121 P MTR004 Maturity-Onset Diabetes of the Young 60
122 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
123 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
124 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 48
125 HPT004 Hepatic Coma 44
126 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 42
127 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
128 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 41
129 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 41
130 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 40
131 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
132 BLR005 Biliary Papillomatosis 38
133 c ZMM002 Zimmermann-Laband Syndrome 1 38
134 BLR002 Bile Reflux 36
135 HPT081 Hepatic Infarction 35
136 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 34
137 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 33
138 NRT006 North American Indian Childhood Cirrhosis 30
139 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 30
140 P ZMM001 Zimmermann-Laband Syndrome 28
141 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 26
142 HPT066 Hepatoportal Sclerosis 26
143 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 25
144 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
145 DST016 Distomatosis 21
146 c ZMM003 Zimmermann-Laband Syndrome 2 20
147 DCR001 Dicrocoeliasis 19
148 HPT028 Hepatic Cystic Hamartoma 17
149 MLY011 Maleylacetoacetate Isomerase Deficiency 17
150 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 13
151 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 12
152 INT039 Intrahepatic Biliary Papillomatosis 12
153 FSC001 Fascioloidiasis 12
154 SLT015 Solitary Necrotic Nodule of the Liver 11
155 PRM248 Primary Intrahepatic Lithiasis 11
156 EXT015 Extrahepatic Biliary Papillomatosis 10
157 PRF001 Perforation of Bile Duct 8
158 HPT075 Hepatitis B Reinfection Following Liver Transplantation 8
159 LVR029 Liver Fibrocystic Disease and Polydactyly 7
160 MCR005 Macrotrabecular Hepatoblastoma 6
161 IDP083 Idiopathic Peliosis Hepatis 6
162 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 6
163 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 6
164 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 6
165 BLN023 Bile and Pancreatic Ducts, Complete Absence of 5
166 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
167 DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 5
168 CNG533 Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome 3
169 RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 3
170 CYS001 Cystic Fibrosis 83
171 c HMC039 Hemochromatosis, Type 1 74
172 c HPT001 Hepatitis C 70
173 c HPT016 Hepatitis B 70
174 c GLY008 Glycogen Storage Disease Ii 66
175 P MCK013 Meckel Syndrome, Type 1 62
176 CRB011 Cerebrotendinous Xanthomatosis 62
177 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
178 LYS012 Lysosomal Acid Lipase Deficiency 61
179 ALP103 Alpha-1-Antitrypsin Deficiency 61
180 P GLY013 Glycogen Storage Disease 60
181 HPT046 Hepatic Veno-Occlusive Disease 59
182 c PRX045 Peroxisome Biogenesis Disorder 1b 59
183 P INF016 Infantile Epileptic Encephalopathy 57
184 P SCL009 Sclerosing Cholangitis 54
185 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 54
186 P OMP004 Omphalocele 51
187 CCH002 Coach Syndrome 51
188 NNT017 Neonatal Adrenoleukodystrophy 50
189 NDL013 Nodular Regenerative Hyperplasia 50
190 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 50
191 c PRX059 Peroxisome Biogenesis Disorder 1a 49
192 P TYR004 Tyrosinemia 49
193 c CNG412 Congenital Disorder of Glycosylation, Type Ii 49
194 c HMC021 Hemochromatosis, Type 2a 46
195 c GLY023 Glycogen Storage Disease Type 0 45
196 c CNG209 Congenital Disorder of Glycosylation, Type Iif 44
197 c MCK012 Meckel Syndrome, Type 6 44
198 c TYR011 Tyrosinemia, Type Iii 43
199 P JVN024 Juvenile Hereditary Hemochromatosis 42
200 c GLY098 Glycogen Storage Disease, Type Ixd 42
201 c CNG201 Congenital Disorder of Glycosylation, Type Iij 41
202 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
203 c CNG204 Congenital Disorder of Glycosylation, Type Iih 40
204 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 40
205 c CNG383 Congenital Disorder of Glycosylation, Type Iik 39
206 c CNG203 Congenital Disorder of Glycosylation, Type Iii 39
207 c CNG206 Congenital Disorder of Glycosylation, Type Ie 39
208 CHL039 Choledocholithiasis 39
209 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
210 c PSD106 Pseudo-Torch Syndrome 1 38
211 c CNG190 Congenital Disorder of Glycosylation, Type Iib 37
212 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 37
213 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
214 c MCK014 Meckel Syndrome, Type 5 37
215 c CNG188 Congenital Disorder of Glycosylation, Type if 36
216 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
217 c CNG379 Congenital Disorder of Glycosylation, Type It 35
218 c MCK033 Meckel Syndrome, Type 4 35
219 c MTC060 Mitochondrial Dna Depletion Syndrome 9 35
220 c CNG195 Congenital Disorder of Glycosylation, Type Id 33
221 c MCK034 Meckel Syndrome, Type 8 33
222 c CNG414 Congenital Disorder of Glycosylation, Type Iil 33
223 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 33
224 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
225 c PRX055 Peroxisome Biogenesis Disorder 11a 33
226 c CNG205 Congenital Disorder of Glycosylation, Type Ij 33
227 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
228 c CNG199 Congenital Disorder of Glycosylation, Type Im 31
229 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
230 c MTC059 Mitochondrial Dna Depletion Syndrome 5 31
231 c CNG194 Congenital Disorder of Glycosylation, Type Ig 31
232 c GLY057 Glycogen Storage Disease X 30
233 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
234 c MTC088 Mitochondrial Dna Depletion Syndrome 13 30
235 c PRX056 Peroxisome Biogenesis Disorder 11b 29
236 c PRX063 Peroxisome Biogenesis Disorder 2a 29
237 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
238 c GLY017 Glycogen Storage Disease Ic 29
239 c PRX060 Peroxisome Biogenesis Disorder 5a 29
240 c CNG498 Congenital Disorder of Glycosylation, Type Iin 28
241 IGG014 Igg4-Related Sclerosing Cholangitis 28
242 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
243 c PRX053 Peroxisome Biogenesis Disorder 14b 28
244 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
245 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
246 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
247 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
248 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 28
249 c PRX054 Peroxisome Biogenesis Disorder 12a 27
250 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
251 c PRX050 Peroxisome Biogenesis Disorder 9b 27
252 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 27
253 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
254 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 27
255 c PSD107 Pseudo-Torch Syndrome 2 27
256 c CNG193 Congenital Disorder of Glycosylation, Type Ip 27
257 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
258 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 26
259 c GLL027 Gallbladder Disease 4 26
260 CRL006 Caroli Disease, Isolated 26
261 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
262 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
263 c MCK028 Meckel Syndrome 13 26
264 c SPN418 Spinocerebellar Ataxia 44 25
265 c PRX043 Peroxisome Biogenesis Disorder 6b 25
266 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
267 c GLY001 Glycogen Storage Disease Ix 25
268 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 25
269 c PRX048 Peroxisome Biogenesis Disorder 10a 25
270 c PRX046 Peroxisome Biogenesis Disorder 7a 25
271 c PRX091 Peroxisome Biogenesis Disorder 8a 25
272 c SPN259 Spinocerebellar Ataxia 32 25
273 c PRX057 Peroxisome Biogenesis Disorder 4a 25
274 c SPN421 Spinocerebellar Ataxia 47 25
275 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 25
276 c MCK035 Meckel Syndrome, Type 10 25
277 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 25
278 c PRX065 Peroxisome Biogenesis Disorder 3a 24
279 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
280 c PRX051 Peroxisome Biogenesis Disorder 6a 24
281 c SPN323 Spinocerebellar Ataxia 41 24
282 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 24
283 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 24
284 c PRX052 Peroxisome Biogenesis Disorder 13a 24
285 c PRX058 Peroxisome Biogenesis Disorder 4b 24
286 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 24
287 c PRX062 Peroxisome Biogenesis Disorder 8b 24
288 c HMC019 Hemochromatosis, Type 2b 23
289 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 23
290 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 23
291 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 23
292 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
293 HYP481 Hyperbiliverdinemia 23
294 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 23
295 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 23
296 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 23
297 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 23
298 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
299 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
300 c PRX047 Peroxisome Biogenesis Disorder 5b 23
301 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
302 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 23
303 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 23
304 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
305 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 23
306 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 22
307 c SPN419 Spinocerebellar Ataxia 45 22
308 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 22
309 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 22
310 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
311 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 22
312 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 22
313 c HYP713 Hypermanganesemia with Dystonia 2 22
314 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 22
315 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
316 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 22
317 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
318 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 22
319 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
320 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 22
321 c PRX066 Peroxisome Biogenesis Disorder 3b 22
322 c TRC078 Trichohepatoenteric Syndrome 2 22
323 c MCK036 Meckel Syndrome, Type 9 22
324 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 21
325 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
326 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 21
327 c PRX089 Peroxisome Biogenesis Disorder 10b 21
328 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
329 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
330 P PRX064 Peroxisome Biogenesis Disorder 2b 21
331 c MCK020 Meckel Syndrome, Type 11 21
332 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 20
333 c SCN059 Secondary Sclerosing Cholangitis 20
334 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
335 c PRX068 Peroxisome Biogenesis Disorder 7b 20
336 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
337 c OMP009 Omphalocele, Autosomal 19
338 c GLY093 Glycogen Storage Disease Ixa 17
339 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 17
340 CNG491 Congenital Portosystemic Shunt 16
341 P MTC014 Mitochondrial Dna Deletion Syndromes 15
342 c TFR001 Tfr2-Related Hereditary Hemochromatosis 15
343 GNR029 Generalized Galactose Epimerase Deficiency 14
344 c INF166 Infantile Epileptic Encephalopathy 55 14
345 CHL098 Childhood Myocerebrohepatopathy Spectrum 13
346 c GLL026 Gallbladder Disease 3 13
347 c GLL025 Gallbladder Disease 2 13
348 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 12
349 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
350 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
351 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
352 c INF169 Infantile Epileptic Encephalopathy 59 11
353 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
354 c INF165 Infantile Epileptic Encephalopathy 56 10
355 c INF168 Infantile Epileptic Encephalopathy 58 10
356 c INF167 Infantile Epileptic Encephalopathy 57 10
357 FRR002 Ferro-Cerebro-Cutaneous Syndrome 10
358 c ADL083 Adult-Onset Citrullinemia Type I 9
359 IDP084 Idiopathic Ductopenia 9
360 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
361 ISL112 Isolated Congenital Hepatic Fibrosis 6
362 IDP071 Idiopathic Copper-Associated Cirrhosis 5
363 ISL105 Isolated Agenesis of Gallbladder 5
364 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 4
365 ISL110 Isolated Neonatal Sclerosing Cholangitis 4
366 FBR086 Fibrolamellar Carcinoma 55
367 BLR007 Biliary Tract Neoplasm 58
368 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 59
369 DBN001 Dubin-Johnson Syndrome 58
370 P TRC086 Trichohepatoenteric Syndrome 1 51
371 WLS001 Wilson Disease 70
372 CHL065 Cholangiocarcinoma 64
373 BLR001 Biliary Atresia 57
374 EXT027 Extrahepatic Bile Duct Adenocarcinoma 38
375 BLD006 Bile Duct Clear Cell Adenocarcinoma 12
376 CRN295 Carnitine Palmitoyltransferase I Deficiency 53
377 BLD019 Bile Duct Cystadenocarcinoma 35
378 BLD002 Bile Duct Mucinous Adenocarcinoma 11
379 CRL004 Caroli Disease 39
380 LVR014 Liver Sarcoma 37
381 c CHL119 Cholangitis, Primary Sclerosing 63
382 RYS001 Reye Syndrome 54
383 HPT019 Hepatic Encephalopathy 60
384 GLB001 Gilbert Syndrome 58
385 NNL002 Nonalcoholic Steatohepatitis 53
386 OPS001 Opisthorchiasis 44
387 P CNG436 Congenital Disorder of Deglycosylation 42
388 P VSC018 Visceral Steatosis 29
389 IMM140 Immunodeficiency 47 20
390 HPT017 Hepatic Osteogenic Sarcoma 10
391 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 9
392 INT014 Intrahepatic Gall Duct Cancer 9
393 TNG005 Tang Hsi Ryu Syndrome 8
394 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 6
395 ADN087 Adenocarcinoma of the Liver and Intrahepatic Biliary Tract 5
396 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
397 INT079 Intrahepatic Cholangiocarcinoma 54
398 HPT070 Hepatosplenic T-Cell Lymphoma 42
399 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 33
400 HPT079 Hepatoid Adenocarcinoma 32
401 c ACT189 Acute Neonatal Citrullinemia Type I 10
402 PRM236 Primary Biliary Cholangitis 62
403 FRC011 Fructose Intolerance, Hereditary 60
404 BLD063 Bile Duct Cysts 45
405 GLC011 Galactose Epimerase Deficiency 45
406 PRL019 Prolidase Deficiency 43
407 GLY015 Glycine N-Methyltransferase Deficiency 43
408 BLD032 Bile Duct Adenocarcinoma 41
409 HPT020 Hepatic Vascular Disease 39
410 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 27
411 NRD050 Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities 21
412 DYK001 Dykes Markes Harper Syndrome 10
413 c BLD001 Bile Duct Carcinoma in Situ 9
414 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 70
415 c ATM011 Autoimmune Hepatitis 61
416 DBF001 D-Bifunctional Protein Deficiency 56
417 c NMN014 Niemann-Pick Disease, Type C2 49
418 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
419 SLR001 Sialuria 44
420 TXC011 Toxocariasis 39
421 HMC038 Hemochromatosis, Neonatal 37
422 LTH002 Lathosterolosis 35
423 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 32
424 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 28
425 SCL007 Sclerosing Hepatic Carcinoma 27
426 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
427 IMM191 Immunodeficiency 56 22
428 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
429 DST001 Distal Biliary Tract Carcinoma 15
430 BLD018 Bladder Hepatoid Adenocarcinoma 7
431 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 5
432 P CNG411 Congenital Disorder of Glycosylation, Type in 66
433 YLL002 Yellow Fever 65
434 LPD008 Lipid Metabolism Disorder 64
435 PRP083 Porphyria, Acute Intermittent 64
436 P HYP724 Hyperlipoproteinemia, Type Iii 62
437 ALV002 Alveolar Echinococcosis 54
438 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
439 P SHR001 Short Bowel Syndrome 53
440 c HPT015 Hepatitis D 52
441 BTY001 Butyrylcholinesterase Deficiency 52
442 c HMC009 Hemochromatosis Type 2 51
443 c CRG004 Crigler-Najjar Syndrome, Type Ii 50
444 c SPN293 Spinocerebellar Ataxia 12 49
445 c HYP740 Hyperlipoproteinemia, Type V 49
446 c HYP739 Hyperlipoproteinemia, Type Iv 49
447 MTC020 Mitochondrial Complex Ii Deficiency 49
448 c SPN312 Spinocerebellar Ataxia 14 47
449 c HMC035 Hemochromatosis, Type 4 47
450 c SPN100 Spinocerebellar Ataxia 27 45
451 c SPN103 Spinocerebellar Ataxia 31 44
452 c HYP768 Hyperlipoproteinemia, Type I 44
453 c HMC010 Hemochromatosis, Type 3 44
454 c SPN265 Spinocerebellar Ataxia 36 43
455 c MCK032 Meckel Syndrome, Type 3 43
456 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 42
457 HYP236 Hyperbilirubinemia, Rotor Type 41
458 c SPN308 Spinocerebellar Ataxia 28 41
459 c MCK031 Meckel Syndrome, Type 2 39
460 TRN021 Transaldolase Deficiency 39
461 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 38
462 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
463 c CNG413 Congenital Short Bowel Syndrome 37
464 c NPH077 Nephronophthisis 19 37
465 c NPH075 Nephronophthisis 18 36
466 c SPN299 Spinocerebellar Ataxia 20 36
467 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 36
468 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 36
469 c SPN247 Spinocerebellar Ataxia Type 19/22 36
470 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 36
471 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
472 c HMC034 Hemochromatosis, Type 5 35
473 c SPN266 Spinocerebellar Ataxia 35 34
474 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
475 PPC001 Pepck 1 Deficiency 34
476 c SPN383 Spinocerebellar Ataxia 42 33
477 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
478 MTC008 Mitochondrial Complex Iii Deficiency 32
479 c SPN095 Spinocerebellar Ataxia 19 32
480 c MTC063 Mitochondrial Dna Depletion Syndrome 3 32
481 PLY158 Polyglucosan Body Neuropathy, Adult Form 32
482 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 31
483 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
484 c SPN099 Spinocerebellar Ataxia 26 31
485 c SPN284 Spinocerebellar Ataxia 38 31
486 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 31
487 c HYP716 Hypermanganesemia with Dystonia 1 30
488 MTC107 Mitochondrial Complex I Deficiency Due to Acad9 Deficiency 30
489 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 30
490 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
491 c SPN098 Spinocerebellar Ataxia 25 29
492 c GLY097 Glycogen Storage Disease Ixb 29
493 c CNG386 Congenital Disorder of Glycosylation, Type Iu 29
494 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
495 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
496 c SPN286 Spinocerebellar Ataxia 40 28
497 c SPN372 Spinocerebellar Ataxia 43 27
498 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 26
499 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 25
500 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 25
501 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 25
502 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
503 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 24
504 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
505 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
506 c SPN102 Spinocerebellar Ataxia 30 24
507 c MCK026 Meckel Syndrome 12 24
508 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
509 c SPN420 Spinocerebellar Ataxia 46 23
510 c EPL129 Epileptic Encephalopathy, Early Infantile, 25 23
511 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 23
512 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 23
513 CRR012 Cirrhotic Cardiomyopathy 23
514 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 23
515 CMB019 Combined Oxidative Phosphorylation Deficiency 8 22
516 HYP279 Hypercholanemia, Familial 22
517 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 20
518 c HYP819 Hyperlipoproteinemia, Type Id 20
519 c SPN107 Spinocerebellar Ataxia 9 19
520 FLM003 Fulminant Viral Hepatitis 19
521 PTY007 Pityriasis Rotunda 18
522 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 16
523 CNG062 Congenital Bronchobiliary Fistula 16
524 GLL034 Gallbladder Neuroendocrine Tumor 14
525 MTH025 Methylmalonyl-Coenzyme a Mutase Deficiency 14
526 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
527 FLL045 Follicular Cholangitis and Pancreatitis 8
528 ADN082 Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract 7
529 SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 7
530 c SCN046 Secondary Short Bowel Syndrome 6
531 CNG340 Congenital Anomaly of Hepatic Vein 6
532 LPD013 Lipidosis with Triglycerid Storage Disease 5
533 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 56
534 FNC009 Fanconi-Bickel Syndrome 55
535 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
536 KLT001 Klatskin's Tumor 52
537 P INT099 Intrahepatic Cholestasis of Pregnancy 60
538 MVL001 Mevalonic Aciduria 57
539 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 45
540 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 45
541 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
542 MYC079 Myoclonic Epilepsy of Lafora 59
543 c NMN013 Niemann-Pick Disease, Type a 57
544 GLL018 Gallbladder Cancer 55
545 P END039 Endodermal Sinus Tumor 48
546 RYN003 Reynolds Syndrome 47
547 GCH018 Gaucher Disease, Perinatal Lethal 45
548 JBR006 Joubert Syndrome with Oculorenal Anomalies 42
549 P CTR177 Citrullinemia, Type Ii, Adult-Onset 39
550 PRM205 Primary Hepatic Neuroendocrine Carcinoma 35
551 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 25
552 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 24
553 c ADL047 Adult Endodermal Sinus Tumor 10
554 P HPT021 Hepatitis 75
555 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
556 GLC006 Galactosemia 66
557 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 63
558 P GLL020 Gallbladder Disease 63
559 P PLY014 Polycystic Kidney Disease 63
560 c GLY060 Glycogen Storage Disease Ia 61
561 c VRL010 Viral Hepatitis 60
562 P BCK002 Beckwith-Wiedemann Syndrome 59
563 c HPT007 Hepatitis E 56
564 c SPN291 Spinocerebellar Ataxia 7 55
565 FML026 Familial Lipoprotein Lipase Deficiency 53
566 HPT025 Hepatic Lipase Deficiency 52
567 c SPN309 Spinocerebellar Ataxia 6 50
568 c SPN314 Spinocerebellar Ataxia 10 50
569 c GLY005 Glycogen Storage Disease Vi 49
570 c ERL057 Early Infantile Epileptic Encephalopathy 49
571 MTH078 Methylmalonic Aciduria, Cblb Type 47
572 c SPN296 Spinocerebellar Ataxia 17 47
573 CRT046 Corticosteroid-Binding Globulin Deficiency 45
574 c SPN305 Spinocerebellar Ataxia 11 44
575 IRN008 Iron Overload in Africa 43
576 FML330 Familial Lcat Deficiency 43
577 PRG008 Paragonimiasis 43
578 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 42
579 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 42
580 c GM1004 Gm1-Gangliosidosis, Type I 42
581 c SPN106 Spinocerebellar Ataxia 5 41
582 c SPN290 Spinocerebellar Ataxia 15 41
583 c SPN283 Spinocerebellar Ataxia 37 40
584 c SPN304 Spinocerebellar Ataxia 8 38
585 CHL073 Cholestasis-Lymphedema Syndrome 38
586 c GM1005 Gm1-Gangliosidosis, Type Ii 37
587 c SPN094 Spinocerebellar Ataxia 18 37
588 c SPN097 Spinocerebellar Ataxia 23 36
589 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
590 GRC001 Gracile Syndrome 34
591 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 34
592 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
593 c SPN105 Spinocerebellar Ataxia 4 33
594 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 31
595 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 31
596 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 30
597 c GM1006 Gm1-Gangliosidosis, Type Iii 30
598 c SPN104 Spinocerebellar Ataxia 34 29
599 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 29
600 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 27
601 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
602 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 22
603 P HYP821 Hypermanganesemia with Dystonia 22
604 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 22
605 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
606 c PLY141 Polycystic Kidney Disease 5 19
607 CHL076 Chilaiditi Syndrome 19
608 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
609 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 15
610 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 14
611 PRM285 Primitive Portal Vein Thrombosis 13
612 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
613 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
614 BDD001 Budd-Chiari Syndrome 61
615 ATR002 Atransferrinemia 52
616 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 42
617 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 37
618 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 36
619 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 33
620 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 28
621 c BTT014 Beta-Thalassemia 71
622 BRR014 Barrett Esophagus 70
623 P RBL001 Rubella 64
624 c ALP101 Alpha-Thalassemia 60
625 P SPN301 Spinocerebellar Ataxia 2 59
626 c GLY003 Glycogen Storage Disease Iii 59
627 IGG001 Iga Glomerulonephritis 58
628 c SPN294 Spinocerebellar Ataxia 1 57
629 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 53
630 c CNG124 Congenital Rubella 49
631 c TYR013 Tyrosinemia, Type Ii 45
632 c SPN311 Spinocerebellar Ataxia 13 45
633 P DYS026 Dysfibrinogenemia 44
634 c MTC054 Mitochondrial Dna Depletion Syndrome 7 44
635 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 43
636 c DYS165 Dysfibrinogenemia, Congenital 38
637 FMR004 Fumarase Deficiency 35
638 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 35
639 PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 34
640 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
641 c SPN101 Spinocerebellar Ataxia 29 33
642 c SPN096 Spinocerebellar Ataxia 21 32
643 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 31
644 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
645 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 28
646 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 27
647 c HPT003 Hepatitis a 67
648 OMN001 Omenn Syndrome 67
649 P CRG003 Crigler-Najjar Syndrome, Type I 61
650 RHB001 Rhabdoid Cancer 60
651 c GLY007 Glycogen Storage Disease Iv 53
652 c MTC010 Mitochondrial Dna Depletion Syndrome 37
653 c MCK030 Meckel Syndrome, Type 7 37
654 P CNG002 Congenital Bile Acid Synthesis Defect 32
655 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 31
656 c MTC126 Mitochondrial Dna Depletion Syndrome 14 25
657 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 25
658 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
659 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
660 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
661 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21
662 c TYR012 Tyrosinemia, Type I 54
663 c GLY044 Glycogen Storage Disease Ixc 38
664 c GLY016 Glycogen Storage Disease Ib 36
665 c GLY043 Glycogen Storage Disease Xii 29
666 c GLY009 Glycogen Storage Disease Xv 28
667 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
668 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 28
669 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 18
670 c GLY004 Glycogen Storage Disease V 55
671 c GLY011 Glycogen Storage Disease Vii 51
672 c GLY059 Glycogen Storage Disease Xiii 23
673 c GLY006 Glycogen Storage Disease Viii 20
674 c CNG208 Congenital Disorder of Glycosylation, Type Iic 54
675 c CNG497 Congenital Disorder of Glycosylation, Type Iio 39
676 c CNG192 Congenital Disorder of Glycosylation, Type Ik 32
677 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 26
678 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
679 c CNG389 Congenital Disorder of Glycosylation, Type Iim 44
680 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32



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