Liver Diseases Category (795 diseases)


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

# Family MCID Name MIFTS
1 P HPT023 Hepatocellular Carcinoma 96
2 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45
3 PDT042 Pediatric Hepatocellular Carcinoma 48
4 MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 20
5 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 31
6 c LVR030 Liver Failure, Infantile, Transient 27
7 P NNL004 Nonalcoholic Fatty Liver Disease 56
8 PLY023 Polycystic Liver Disease 55
9 c GLY008 Glycogen Storage Disease Ii 66
10 c GLY005 Glycogen Storage Disease Vi 57
11 c GLY004 Glycogen Storage Disease V 56
12 c GLY011 Glycogen Storage Disease Vii 52
13 c GLY023 Glycogen Storage Disease Type 0 41
14 c GLY098 Glycogen Storage Disease, Type Ixd 41
15 c GLY057 Glycogen Storage Disease X 33
16 c GLY009 Glycogen Storage Disease Xv 30
17 c GLY017 Glycogen Storage Disease Ic 30
18 c GLY043 Glycogen Storage Disease Xii 28
19 c GLY059 Glycogen Storage Disease Xiii 24
20 c GLY001 Glycogen Storage Disease Ix 23
21 c GLY093 Glycogen Storage Disease Ixa 19
22 GLY058 Glycogen Storage Disease 0, Liver 30
23 FTT001 Fatty Liver Disease 66
24 P LVR013 Liver Disease 76
25 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
26 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 60
27 HPT082 Hepatic Adenomas, Familial 50
28 c INF145 Infantile Liver Failure Syndrome 1 47
29 c GLY097 Glycogen Storage Disease Ixb 29
30 MTC103 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 13
31 P PRP003 Porphyria Cutanea Tarda 66
32 c PRP091 Porphyria Cutanea Tarda, Type I 32
33 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 31
34 c FML324 Familial Porphyria Cutanea Tarda 26
35 DBN001 Dubin-Johnson Syndrome 55
36 P BLD036 Bile Duct Disease 51
37 CMB012 Combined Oxidative Phosphorylation Deficiency 1 33
38 GLY099 Glycogen Storage Disease Ixa1 30
39 FSC002 Fascioliasis 46
40 INT271 Interstitial Lung and Liver Disease 34
41 ALC009 Alcoholic Liver Cirrhosis 52
42 LVR002 Liver Angiosarcoma 49
43 P TRC086 Trichohepatoenteric Syndrome 1 60
44 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 52
45 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 36
46 c TRC078 Trichohepatoenteric Syndrome 2 35
47 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
48 WLS001 Wilson Disease 70
49 c FTT008 Fatty Liver Disease, Nonalcoholic 1 60
50 c MTC061 Mitochondrial Dna Depletion Syndrome 1 54
51 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
52 c MTC063 Mitochondrial Dna Depletion Syndrome 3 34
53 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 34
54 c MTC060 Mitochondrial Dna Depletion Syndrome 9 34
55 c MTC062 Mitochondrial Dna Depletion Syndrome 2 33
56 c MTC088 Mitochondrial Dna Depletion Syndrome 13 32
57 c MTC059 Mitochondrial Dna Depletion Syndrome 5 32
58 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 29
59 c MTC078 Mitochondrial Dna Depletion Syndrome 11 28
60 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27
61 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 24
62 c MTC126 Mitochondrial Dna Depletion Syndrome 14 22
63 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 19
64 c MTC014 Mitochondrial Dna Deletion Syndromes 15
65 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 11
66 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 11
67 c ACT134 Acute Liver Failure 53
68 c GLY060 Glycogen Storage Disease Ia 50
69 HPT014 Hepatorenal Syndrome 49
70 LVR003 Liver Carcinoma in Situ 10
71 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 17
72 CHL068 Cholestasis 60
73 c SPN294 Spinocerebellar Ataxia 1 59
74 P SPN301 Spinocerebellar Ataxia 2 59
75 HPT022 Hepatoblastoma 56
76 c TYR012 Tyrosinemia, Type I 55
77 BLR001 Biliary Atresia 55
78 c SPN291 Spinocerebellar Ataxia 7 53
79 c SPN314 Spinocerebellar Ataxia 10 51
80 c SPN293 Spinocerebellar Ataxia 12 51
81 c ADL096 Adult Hepatocellular Carcinoma 50
82 c SPN309 Spinocerebellar Ataxia 6 49
83 c SPN296 Spinocerebellar Ataxia 17 48
84 P TYR004 Tyrosinemia 48
85 c SPN312 Spinocerebellar Ataxia 14 48
86 c TYR013 Tyrosinemia, Type Ii 46
87 c SPN100 Spinocerebellar Ataxia 27 46
88 c SPN311 Spinocerebellar Ataxia 13 46
89 c SPN097 Spinocerebellar Ataxia 23 45
90 c SPN103 Spinocerebellar Ataxia 31 44
91 c SPN308 Spinocerebellar Ataxia 28 44
92 c TYR011 Tyrosinemia, Type Iii 43
93 c SPN290 Spinocerebellar Ataxia 15 43
94 c SPN305 Spinocerebellar Ataxia 11 42
95 c SPN265 Spinocerebellar Ataxia 36 42
96 c SPN283 Spinocerebellar Ataxia 37 41
97 c SPN304 Spinocerebellar Ataxia 8 41
98 c SPN106 Spinocerebellar Ataxia 5 41
99 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 39
100 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
101 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 37
102 c SPN094 Spinocerebellar Ataxia 18 37
103 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
104 c SPN101 Spinocerebellar Ataxia 29 35
105 c SPN299 Spinocerebellar Ataxia 20 35
106 c SPN095 Spinocerebellar Ataxia 19 35
107 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
108 c SPN247 Spinocerebellar Ataxia Type 19/22 34
109 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 34
110 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 34
111 c SPN266 Spinocerebellar Ataxia 35 34
112 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
113 c SPN096 Spinocerebellar Ataxia 21 33
114 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 33
115 c SPN105 Spinocerebellar Ataxia 4 33
116 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 33
117 c SPN099 Spinocerebellar Ataxia 26 33
118 c SPN383 Spinocerebellar Ataxia 42 32
119 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 32
120 c SPN104 Spinocerebellar Ataxia 34 31
121 c SPN284 Spinocerebellar Ataxia 38 31
122 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 30
123 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 30
124 c SPN098 Spinocerebellar Ataxia 25 30
125 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
126 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
127 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 28
128 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 28
129 c SPN286 Spinocerebellar Ataxia 40 28
130 c SPN372 Spinocerebellar Ataxia 43 27
131 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 27
132 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 26
133 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
134 c SPN418 Spinocerebellar Ataxia 44 25
135 c SPN420 Spinocerebellar Ataxia 46 25
136 c SPN421 Spinocerebellar Ataxia 47 25
137 c SPN102 Spinocerebellar Ataxia 30 24
138 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
139 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 24
140 c SPN323 Spinocerebellar Ataxia 41 24
141 c SPN427 Spinocerebellar Ataxia 48 24
142 c SPN259 Spinocerebellar Ataxia 32 23
143 c SPN419 Spinocerebellar Ataxia 45 22
144 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
145 c INF138 Infantile Liver Failure Syndrome 2 22
146 c SPN107 Spinocerebellar Ataxia 9 22
147 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 20
148 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 19
149 DXY001 Deoxyguanosine Kinase Deficiency 17
150 c GRD008 Grid2-Related Spinocerebellar Ataxia 12
151 P HYP750 Hypertriglyceridemia, Familial 58
152 P PRM006 Primary Biliary Cirrhosis 54
153 BLR031 Biliary Tract Benign Neoplasm 39
154 c BLR024 Biliary Cirrhosis, Primary, 1 38
155 BLD033 Bile Duct Adenoma 35
156 c HYP555 Hypertriglyceridemia, Transient Infantile 34
157 c BLR016 Biliary Cirrhosis, Primary, 2 18
158 c BLR017 Biliary Cirrhosis, Primary, 3 12
159 c BLR025 Biliary Cirrhosis, Primary, 4 11
160 EXT028 Extrahepatic Bile Duct Adenoma 11
161 c BLR026 Biliary Cirrhosis, Primary, 5 10
162 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 62
163 ECH003 Echinococcosis 58
164 CRN295 Carnitine Palmitoyltransferase I Deficiency 54
165 c GLY044 Glycogen Storage Disease Ixc 40
166 UND001 Undifferentiated Embryonal Sarcoma of the Liver 33
167 BLD005 Bile Duct Mucoepidermoid Carcinoma 30
168 LVR004 Liver Inflammatory Pseudotumor 29
169 INT049 Intrahepatic Bile Duct Adenoma 27
170 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
171 c VSC053 Visceral Steatosis, Congenital 23
172 CMB089 Combined Hepatocellular Carcinoma and Cholangiocarcinoma 20
173 HPT011 Hepatocellular Clear Cell Carcinoma 13
174 EXT014 Extrahepatic Bile Duct Cystadenoma 10
175 CMM001 Common Bile Duct Neoplasm 9
176 INT037 Intrahepatic Bile Duct Cystadenoma 9
177 LVR007 Liver Fibroma 7
178 P HPT021 Hepatitis 73
179 c HPT016 Hepatitis B 70
180 c HPT001 Hepatitis C 69
181 c HPT015 Hepatitis D 52
182 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 42
183 CRL004 Caroli Disease 40
184 P CNG002 Congenital Bile Acid Synthesis Defect 33
185 BLC012 Bile Acid Malabsorption, Primary 24
186 NTM001 Nutmeg Liver 23
187 GRW040 Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy 21
188 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
189 c HPT003 Hepatitis a 66
190 c CHL119 Cholangitis, Primary Sclerosing 62
191 c GLY003 Glycogen Storage Disease Iii 61
192 RYS001 Reye Syndrome 52
193 P CNG048 Congenital Hepatic Fibrosis 40
194 BLR028 Biliary Atresia, Extrahepatic 33
195 c CMM007 Common Bile Duct Disease 31
196 RJS001 Ruijs-Aalfs Syndrome 23
197 c SCN059 Secondary Sclerosing Cholangitis 18
198 LVR010 Liver Leiomyosarcoma 16
199 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 15
200 BLD035 Bile Duct Cystadenoma 15
201 LVR009 Liver Rhabdomyosarcoma 14
202 BLD037 Bile Duct Rhabdomyosarcoma 12
203 ADN003 Adenosquamous Bile Duct Carcinoma 10
204 SQM004 Squamous Cell Bile Duct Carcinoma 9
205 EXT013 Extrahepatic Bile Duct Leiomyoma 9
206 EXT017 Extrahepatic Bile Duct Papillary Adenoma 8
207 EXT005 Extrahepatic Bile Duct Lipoma 8
208 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 64
209 HPT019 Hepatic Encephalopathy 60
210 GLB001 Gilbert Syndrome 57
211 CYS008 Cystic Echinococcosis 49
212 CLN003 Clonorchiasis 48
213 HPT067 Hepatocellular Adenoma 44
214 OPS001 Opisthorchiasis 43
215 P CNG436 Congenital Disorder of Deglycosylation 42
216 HMN004 Hemangioma of Liver 38
217 P VSC018 Visceral Steatosis 37
218 LVR031 Liver Benign Neoplasm 29
219 LVR005 Liver Leiomyoma 27
220 LVR006 Liver Lymphoma 21
221 IGG017 Igg4-Related Hepatopathy 19
222 MXD007 Mixed Hepatoblastoma 19
223 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
224 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 15
225 LVR001 Liver Lipoma 14
226 c MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect 13
227 c FTT007 Fatty Liver Disease, Nonalcoholic 2 13
228 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 12
229 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 10
230 BLD007 Bile Duct Signet Ring Cell Carcinoma 10
231 CYT022 Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 8
232 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
233 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
234 TNG005 Tang Hsi Ryu Syndrome 6
235 P MTC140 Mitochondrial Dna Maintenance Defects 4
236 UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 4
237 SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 4
238 SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3
239 PYR019 Pyruvate Kinase Deficiency, Liver Type 2
240 NNL002 Nonalcoholic Steatohepatitis 54
241 DRG002 Drug-Induced Hepatitis 41
242 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 38
243 PLS002 Peliosis Hepatis 38
244 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 30
245 c MTC129 Mitochondrial Dna Depletion Syndrome 15 24
246 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 19
247 c ACT189 Acute Neonatal Citrullinemia Type I 10
248 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 6
249 P ALG028 Alagille Syndrome 1 70
250 PRM236 Primary Biliary Cholangitis 63
251 ALC006 Alcoholic Hepatitis 62
252 FRC011 Fructose Intolerance, Hereditary 60
253 MVL001 Mevalonic Aciduria 57
254 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53
255 GLC011 Galactose Epimerase Deficiency 49
256 BLD063 Bile Duct Cysts 47
257 c GLL024 Gallbladder Disease 1 45
258 PRL019 Prolidase Deficiency 43
259 GLY015 Glycine N-Methyltransferase Deficiency 42
260 HPT008 Hepatic Tuberculosis 39
261 SCL056 Sclerosing Cholangitis, Neonatal 37
262 c ALG016 Alagille Syndrome 2 30
263 c GLY006 Glycogen Storage Disease Viii 27
264 c GLL027 Gallbladder Disease 4 26
265 PRT112 Portal Hypertension, Noncirrhotic 22
266 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 21
267 c GLL025 Gallbladder Disease 2 12
268 c GLL026 Gallbladder Disease 3 12
269 DYK001 Dykes Markes Harper Syndrome 9
270 LVR008 Liver Fibrosarcoma 8
271 c ATM011 Autoimmune Hepatitis 67
272 c NMN015 Niemann-Pick Disease, Type C1 67
273 c CNG411 Congenital Disorder of Glycosylation, Type in 64
274 P NMN002 Niemann-Pick Disease 61
275 P MTR004 Maturity-Onset Diabetes of the Young 61
276 c NMN016 Niemann-Pick Disease, Type B 58
277 DBF001 D-Bifunctional Protein Deficiency 56
278 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
279 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 54
280 c CNG415 Congenital Disorder of Glycosylation, Type Ia 54
281 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 53
282 c CNG208 Congenital Disorder of Glycosylation, Type Iic 52
283 P CNG412 Congenital Disorder of Glycosylation, Type Ii 52
284 c NMN014 Niemann-Pick Disease, Type C2 52
285 c CNG191 Congenital Disorder of Glycosylation, Type Iia 49
286 P MTH008 Methylmalonic Acidemia 47
287 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 46
288 HPT004 Hepatic Coma 45
289 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
290 SLR001 Sialuria 44
291 c CNG497 Congenital Disorder of Glycosylation, Type Iio 44
292 c CNG190 Congenital Disorder of Glycosylation, Type Iib 43
293 c CNG206 Congenital Disorder of Glycosylation, Type Ie 43
294 c CNG201 Congenital Disorder of Glycosylation, Type Iij 42
295 TXC011 Toxocariasis 42
296 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 42
297 c CNG204 Congenital Disorder of Glycosylation, Type Iih 42
298 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 42
299 c CNG389 Congenital Disorder of Glycosylation, Type Iim 41
300 c CNG209 Congenital Disorder of Glycosylation, Type Iif 41
301 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 41
302 c CNG203 Congenital Disorder of Glycosylation, Type Iii 41
303 c CNG187 Congenital Disorder of Glycosylation, Type Iid 41
304 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 40
305 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 39
306 BLR005 Biliary Papillomatosis 39
307 c CNG189 Congenital Disorder of Glycosylation, Type Ib 38
308 c CNG197 Congenital Disorder of Glycosylation, Type Ih 37
309 HMC038 Hemochromatosis, Neonatal 37
310 TRN021 Transaldolase Deficiency 37
311 c CNG498 Congenital Disorder of Glycosylation, Type Iin 37
312 BLR002 Bile Reflux 36
313 c ZMM002 Zimmermann-Laband Syndrome 1 36
314 c CNG379 Congenital Disorder of Glycosylation, Type It 36
315 P ZMM001 Zimmermann-Laband Syndrome 35
316 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 34
317 c CNG195 Congenital Disorder of Glycosylation, Type Id 34
318 c CNG196 Congenital Disorder of Glycosylation, Type Ic 33
319 HPT081 Hepatic Infarction 33
320 c CNG205 Congenital Disorder of Glycosylation, Type Ij 32
321 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 32
322 LTH002 Lathosterolosis 32
323 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 32
324 c CNG200 Congenital Disorder of Glycosylation, Type Iq 32
325 c CNG198 Congenital Disorder of Glycosylation, Type Il 32
326 c CNG199 Congenital Disorder of Glycosylation, Type Im 32
327 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 31
328 c CNG414 Congenital Disorder of Glycosylation, Type Iil 31
329 c CNG188 Congenital Disorder of Glycosylation, Type if 31
330 c CNG403 Congenital Disorder of Glycosylation, Type Ix 31
331 c CNG185 Congenital Disorder of Glycosylation, Type Iig 30
332 c CNG386 Congenital Disorder of Glycosylation, Type Iu 30
333 c CNG194 Congenital Disorder of Glycosylation, Type Ig 30
334 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
335 DST016 Distomatosis 28
336 c CNG193 Congenital Disorder of Glycosylation, Type Ip 28
337 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
338 c CNG388 Congenital Disorder of Glycosylation, Type Iw 28
339 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 27
340 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 27
341 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 27
342 NRT006 North American Indian Childhood Cirrhosis 26
343 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 25
344 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 24
345 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
346 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 23
347 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 22
348 HPT066 Hepatoportal Sclerosis 21
349 c ZMM003 Zimmermann-Laband Syndrome 2 20
350 DCR001 Dicrocoeliasis 19
351 HPT028 Hepatic Cystic Hamartoma 18
352 MLY011 Maleylacetoacetate Isomerase Deficiency 17
353 INT039 Intrahepatic Biliary Papillomatosis 12
354 FSC001 Fascioloidiasis 12
355 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
356 SLT015 Solitary Necrotic Nodule of the Liver 11
357 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 11
358 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11
359 EXT015 Extrahepatic Biliary Papillomatosis 11
360 PRM248 Primary Intrahepatic Lithiasis 10
361 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
362 PRF001 Perforation of Bile Duct 8
363 LVR029 Liver Fibrocystic Disease and Polydactyly 7
364 MCR005 Macrotrabecular Hepatoblastoma 6
365 IDP083 Idiopathic Peliosis Hepatis 6
366 CNG533 Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome 6
367 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 6
368 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 6
369 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 5
370 BLN023 Bile and Pancreatic Ducts, Complete Absence of 5
371 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
372 HPT075 Hepatitis B Reinfection Following Liver Transplantation 3
373 RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 3
374 DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 2
375 CYS001 Cystic Fibrosis 82
376 c HMC039 Hemochromatosis, Type 1 74
377 c HPT073 Hepatitis C Virus 72
378 P JBR020 Joubert Syndrome 1 69
379 c DNG003 Dengue Disease 67
380 YLL002 Yellow Fever 65
381 CRB011 Cerebrotendinous Xanthomatosis 64
382 PRP083 Porphyria, Acute Intermittent 63
383 P MCK013 Meckel Syndrome, Type 1 62
384 P DNG005 Dengue Virus 62
385 P GLY013 Glycogen Storage Disease 61
386 ALP103 Alpha-1-Antitrypsin Deficiency 61
387 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
388 P HRD008 Hereditary Hemorrhagic Telangiectasia 60
389 LYS012 Lysosomal Acid Lipase Deficiency 60
390 HPT046 Hepatic Veno-Occlusive Disease 60
391 c PRX045 Peroxisome Biogenesis Disorder 1b 58
392 c HPT007 Hepatitis E 55
393 c CRG004 Crigler-Najjar Syndrome, Type Ii 54
394 ALV002 Alveolar Echinococcosis 52
395 P OMP004 Omphalocele 52
396 CCH002 Coach Syndrome 51
397 P SCL009 Sclerosing Cholangitis 51
398 NDL013 Nodular Regenerative Hyperplasia 51
399 NNT017 Neonatal Adrenoleukodystrophy 51
400 c PRX059 Peroxisome Biogenesis Disorder 1a 50
401 MTC020 Mitochondrial Complex Ii Deficiency 50
402 BTY001 Butyrylcholinesterase Deficiency 49
403 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 48
404 c HMC010 Hemochromatosis, Type 3 47
405 c HMC035 Hemochromatosis, Type 4 47
406 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 46
407 c HMC009 Hemochromatosis Type 2 46
408 P JVN024 Juvenile Hereditary Hemochromatosis 44
409 c MCK032 Meckel Syndrome, Type 3 44
410 c MCK012 Meckel Syndrome, Type 6 44
411 c JBR024 Joubert Syndrome 14 43
412 c CNG504 Congenital Disorder of Glycosylation, Type Iip 43
413 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
414 P CNG003 Congenital Dyserythropoietic Anemia 42
415 c JBR015 Joubert Syndrome 6 42
416 c HMC021 Hemochromatosis, Type 2a 41
417 P MTC010 Mitochondrial Dna Depletion Syndrome 41
418 c JBR004 Joubert Syndrome 2 40
419 HYP236 Hyperbilirubinemia, Rotor Type 40
420 c MCK033 Meckel Syndrome, Type 4 39
421 c MCK031 Meckel Syndrome, Type 2 39
422 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
423 c CNG383 Congenital Disorder of Glycosylation, Type Iik 38
424 c MCK014 Meckel Syndrome, Type 5 37
425 c GLY016 Glycogen Storage Disease Ib 37
426 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 36
427 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 35
428 c JBR025 Joubert Syndrome 17 35
429 c JBR041 Joubert Syndrome 3 34
430 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 34
431 MTC008 Mitochondrial Complex Iii Deficiency 34
432 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
433 CHL039 Choledocholithiasis 34
434 PPC001 Pepck 1 Deficiency 33
435 c MCK034 Meckel Syndrome, Type 8 33
436 c PRX055 Peroxisome Biogenesis Disorder 11a 33
437 c JBR012 Joubert Syndrome 5 32
438 c HYP716 Hypermanganesemia with Dystonia 1 32
439 c JBR022 Joubert Syndrome 20 32
440 c PRX060 Peroxisome Biogenesis Disorder 5a 32
441 c HMC034 Hemochromatosis, Type 5 32
442 c PRX056 Peroxisome Biogenesis Disorder 11b 30
443 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 30
444 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 30
445 c JBR014 Joubert Syndrome 9 29
446 c PRX063 Peroxisome Biogenesis Disorder 2a 29
447 c PRX050 Peroxisome Biogenesis Disorder 9b 29
448 c PRX048 Peroxisome Biogenesis Disorder 10a 29
449 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 29
450 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
451 c PRX051 Peroxisome Biogenesis Disorder 6a 29
452 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 28
453 c PRX053 Peroxisome Biogenesis Disorder 14b 28
454 CRL006 Caroli Disease, Isolated 28
455 c PRX054 Peroxisome Biogenesis Disorder 12a 28
456 c JBR026 Joubert Syndrome 15 28
457 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 28
458 c MCK028 Meckel Syndrome 13 27
459 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 27
460 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 27
461 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 27
462 c JBR016 Joubert Syndrome 10 27
463 c JBR031 Joubert Syndrome 21 27
464 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 27
465 c PRX065 Peroxisome Biogenesis Disorder 3a 27
466 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 27
467 c PRX043 Peroxisome Biogenesis Disorder 6b 26
468 c PSD107 Pseudo-Torch Syndrome 2 26
469 c JBR013 Joubert Syndrome 8 26
470 c JBR018 Joubert Syndrome 4 26
471 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 26
472 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 26
473 PRT094 Protoporphyria, Erythropoietic, X-Linked 26
474 c JBR011 Joubert Syndrome 7 26
475 c PRX046 Peroxisome Biogenesis Disorder 7a 26
476 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 26
477 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 26
478 c MCK035 Meckel Syndrome, Type 10 26
479 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 25
480 c PRX057 Peroxisome Biogenesis Disorder 4a 25
481 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 25
482 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 25
483 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 25
484 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 25
485 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 25
486 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 25
487 c PRX091 Peroxisome Biogenesis Disorder 8a 25
488 c JBR042 Joubert Syndrome 23 25
489 c PRX058 Peroxisome Biogenesis Disorder 4b 25
490 c PRX047 Peroxisome Biogenesis Disorder 5b 25
491 CMB008 Combined Oxidative Phosphorylation Deficiency 25
492 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 25
493 c JBR030 Joubert Syndrome 22 25
494 c JBR037 Joubert Syndrome 26 25
495 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 24
496 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 24
497 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 24
498 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 24
499 c HMC019 Hemochromatosis, Type 2b 24
500 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 24
501 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 24
502 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 24
503 c PRX052 Peroxisome Biogenesis Disorder 13a 24
504 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 24
505 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 24
506 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 24
507 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 24
508 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 24
509 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 24
510 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 24
511 IGG014 Igg4-Related Sclerosing Cholangitis 23
512 HYP481 Hyperbiliverdinemia 23
513 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 23
514 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 23
515 c JBR035 Joubert Syndrome 24 23
516 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 23
517 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 23
518 c JBR039 Joubert Syndrome 28 23
519 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 23
520 c PRX062 Peroxisome Biogenesis Disorder 8b 23
521 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 23
522 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 23
523 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 23
524 c HYP713 Hypermanganesemia with Dystonia 2 23
525 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 23
526 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 23
527 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 23
528 c JBR021 Joubert Syndrome 18 23
529 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 22
530 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 22
531 c JBR027 Joubert Syndrome 16 22
532 c JBR047 Joubert Syndrome 35 22
533 c JBR040 Joubert Syndrome 30 22
534 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 22
535 c JBR043 Joubert Syndrome 32 22
536 c MCK036 Meckel Syndrome, Type 9 22
537 P TRC034 Torch Syndrome 22
538 c JBR028 Joubert Syndrome 13 22
539 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
540 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 21
541 c JBR045 Joubert Syndrome 33 21
542 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
543 c PRX068 Peroxisome Biogenesis Disorder 7b 21
544 c MCK020 Meckel Syndrome, Type 11 21
545 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 21
546 c PRX066 Peroxisome Biogenesis Disorder 3b 21
547 c JBR044 Joubert Syndrome 31 21
548 c PRX089 Peroxisome Biogenesis Disorder 10b 21
549 c JBR038 Joubert Syndrome 27 20
550 P PRX064 Peroxisome Biogenesis Disorder 2b 20
551 MRZ001 Mirizzi Syndrome 19
552 FTZ002 Fitz-Hugh-Curtis Syndrome 19
553 c EPL238 Epileptic Encephalopathy, Early Infantile, 73 19
554 c OMP009 Omphalocele, Autosomal 18
555 c EPL239 Epileptic Encephalopathy, Early Infantile, 74 18
556 TRC123 Trichohepatoneurodevelopmental Syndrome 18
557 c PLY141 Polycystic Kidney Disease 5 18
558 c EPL237 Epileptic Encephalopathy, Early Infantile, 72 18
559 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 17
560 PTY007 Pityriasis Rotunda 17
561 CNG491 Congenital Portosystemic Shunt 17
562 MTH025 Methylmalonyl-Coenzyme a Mutase Deficiency 16
563 CNG062 Congenital Bronchobiliary Fistula 15
564 c TFR001 Tfr2-Related Hereditary Hemochromatosis 14
565 GNR029 Generalized Galactose Epimerase Deficiency 14
566 CHL098 Childhood Myocerebrohepatopathy Spectrum 12
567 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 11
568 ERY041 Erythrocyte Galactose Epimerase Deficiency 10
569 FRR002 Ferro-Cerebro-Cutaneous Syndrome 9
570 c ADL083 Adult-Onset Citrullinemia Type I 9
571 IDP084 Idiopathic Ductopenia 9
572 c PLY176 Polycystic Kidney Disease 4 8
573 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
574 ISL112 Isolated Congenital Hepatic Fibrosis 6
575 IDP071 Idiopathic Copper-Associated Cirrhosis 5
576 ISL105 Isolated Agenesis of Gallbladder 5
577 LPD013 Lipidosis with Triglycerid Storage Disease 4
578 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 4
579 ISL110 Isolated Neonatal Sclerosing Cholangitis 4
580 FBR086 Fibrolamellar Carcinoma 55
581 CHL065 Cholangiocarcinoma 64
582 EXT027 Extrahepatic Bile Duct Adenocarcinoma 37
583 BLD006 Bile Duct Clear Cell Adenocarcinoma 12
584 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 54
585 BLD019 Bile Duct Cystadenocarcinoma 37
586 BLD002 Bile Duct Mucinous Adenocarcinoma 10
587 LVR014 Liver Sarcoma 32
588 FNC009 Fanconi-Bickel Syndrome 53
589 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 54
590 KLT001 Klatskin's Tumor 51
591 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
592 IMM140 Immunodeficiency 47 20
593 HPT017 Hepatic Osteogenic Sarcoma 9
594 INT014 Intrahepatic Gall Duct Cancer 8
595 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 6
596 ADN087 Adenocarcinoma of the Liver and Intrahepatic Biliary Tract 5
597 P PRG047 Progressive Familial Intrahepatic Cholestasis 55
598 INT079 Intrahepatic Cholangiocarcinoma 55
599 P INT099 Intrahepatic Cholestasis of Pregnancy 53
600 RYN003 Reynolds Syndrome 46
601 HPT070 Hepatosplenic T-Cell Lymphoma 35
602 c MTC058 Mitochondrial Dna Depletion Syndrome 6 34
603 HPT079 Hepatoid Adenocarcinoma 32
604 P BLD062 Bile Duct Cancer 64
605 c GLY007 Glycogen Storage Disease Iv 54
606 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 48
607 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 46
608 BLD032 Bile Duct Adenocarcinoma 42
609 HPT020 Hepatic Vascular Disease 38
610 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 36
611 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 27
612 c BLD001 Bile Duct Carcinoma in Situ 9
613 MYC079 Myoclonic Epilepsy of Lafora 61
614 c GM1007 Gm1 Gangliosidosis 58
615 c NMN013 Niemann-Pick Disease, Type a 57
616 c GM1004 Gm1-Gangliosidosis, Type I 56
617 GLL018 Gallbladder Cancer 55
618 c GM2005 Gm2-Gangliosidosis, Ab Variant 49
619 c GM2006 Gm2 Gangliosidosis 49
620 P GNG009 Gangliosidosis 47
621 c GM1005 Gm1-Gangliosidosis, Type Ii 45
622 JBR006 Joubert Syndrome with Oculorenal Anomalies 43
623 GCH018 Gaucher Disease, Perinatal Lethal 38
624 P CTR177 Citrullinemia, Type Ii, Adult-Onset 37
625 c GM1006 Gm1-Gangliosidosis, Type Iii 34
626 SCL007 Sclerosing Hepatic Carcinoma 27
627 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 24
628 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 16
629 DST001 Distal Biliary Tract Carcinoma 15
630 c GM2001 Gm2 Gangliosidosis, 0 Variant 11
631 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 9
632 BLD018 Bladder Hepatoid Adenocarcinoma 6
633 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
634 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 68
635 P DYS007 Dyskeratosis Congenita 67
636 c MCP050 Mucopolysaccharidosis, Type Ii 66
637 LPD008 Lipid Metabolism Disorder 65
638 GLC006 Galactosemia 65
639 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 64
640 c MCP049 Mucopolysaccharidosis, Type Vii 64
641 P HYP724 Hyperlipoproteinemia, Type Iii 63
642 c MCP001 Mucopolysaccharidosis Iii 63
643 P OST001 Osteopetrosis 63
644 P PLY014 Polycystic Kidney Disease 62
645 c MCP052 Mucopolysaccharidosis, Type Vi 61
646 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
647 c VRL010 Viral Hepatitis 60
648 c MCP004 Mucopolysaccharidosis Iv 59
649 P BCK002 Beckwith-Wiedemann Syndrome 58
650 c OST131 Osteopetrosis, Autosomal Dominant 2 55
651 P NPH005 Nephronophthisis 55
652 c HYP740 Hyperlipoproteinemia, Type V 52
653 c OST163 Osteopetrosis, Autosomal Recessive 3 52
654 c MCP043 Mucopolysaccharidosis, Type Iiia 52
655 P SHR001 Short Bowel Syndrome 52
656 P ERL057 Early Infantile Epileptic Encephalopathy 49
657 FML026 Familial Lipoprotein Lipase Deficiency 49
658 c HYP739 Hyperlipoproteinemia, Type Iv 49
659 c HYP768 Hyperlipoproteinemia, Type I 47
660 c ATS282 Autosomal Recessive Malignant Osteopetrosis 46
661 HPT025 Hepatic Lipase Deficiency 46
662 c OST129 Osteopetrosis, Autosomal Recessive 2 46
663 CRT046 Corticosteroid-Binding Globulin Deficiency 45
664 c NPH030 Nephronophthisis 2 45
665 c OST136 Osteopetrosis, Autosomal Recessive 7 45
666 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 44
667 c NPH019 Nephronophthisis 1 44
668 c MCP047 Mucopolysaccharidosis, Type Iva 44
669 c MCP044 Mucopolysaccharidosis, Type Iiib 44
670 PRG008 Paragonimiasis 43
671 FML330 Familial Lcat Deficiency 42
672 IRN008 Iron Overload in Africa 42
673 c NPH031 Nephronophthisis 3 41
674 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 41
675 MTH078 Methylmalonic Aciduria, Cblb Type 40
676 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 40
677 c NPH053 Nephronophthisis 11 40
678 c CNG413 Congenital Short Bowel Syndrome 39
679 c MCP051 Mucopolysaccharidosis, Type Ix 38
680 c NPH032 Nephronophthisis 4 38
681 CHL073 Cholestasis-Lymphedema Syndrome 38
682 c OST126 Osteopetrosis, Autosomal Recessive 1 37
683 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 37
684 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 37
685 c NPH077 Nephronophthisis 19 37
686 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 37
687 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 37
688 c JVN041 Juvenile Nephronophthisis 36
689 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 35
690 c NPH075 Nephronophthisis 18 35
691 c NPH035 Nephronophthisis 9 35
692 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 35
693 c NPH068 Nephronophthisis 16 35
694 c MCP048 Mucopolysaccharidosis, Type Ivb 34
695 c MCP045 Mucopolysaccharidosis, Type Iiic 34
696 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 34
697 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 34
698 c NPH033 Nephronophthisis 7 34
699 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 33
700 GRC001 Gracile Syndrome 33
701 c OST134 Osteopetrosis, Autosomal Recessive 6 32
702 c MCP046 Mucopolysaccharidosis, Type Iiid 32
703 c NPH065 Nephronophthisis 13 32
704 c DYS039 Dyskeratosis Congenita Autosomal Dominant 31
705 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 31
706 c CNG192 Congenital Disorder of Glycosylation, Type Ik 31
707 c NPH069 Nephronophthisis 15 31
708 c INF147 Infantile Nephronophthisis 31
709 PLY158 Polyglucosan Body Neuropathy, Adult Form 31
710 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
711 c NPH071 Nephronophthisis 14 30
712 c OST120 Osteopetrosis, Autosomal Recessive 5 30
713 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
714 c DYS040 Dyskeratosis Congenita Autosomal Recessive 29
715 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 29
716 c OST125 Osteopetrosis, Autosomal Dominant 1 29
717 c OST137 Osteopetrosis, Autosomal Recessive 4 29
718 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 28
719 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 26
720 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 26
721 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 26
722 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 26
723 c OST106 Osteopetrosis, Autosomal Recessive 8 25
724 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 25
725 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 25
726 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 24
727 c MCK026 Meckel Syndrome 12 24
728 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 24
729 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 24
730 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 24
731 CMB019 Combined Oxidative Phosphorylation Deficiency 8 23
732 c HYP819 Hyperlipoproteinemia, Type Id 23
733 c OST171 Osteopetrosis, Autosomal Dominant 3 22
734 HYP279 Hypercholanemia, Familial 21
735 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
736 c JBR036 Joubert Syndrome 25 21
737 c NPH067 Nephronophthisis 12 20
738 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
739 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 19
740 CHL076 Chilaiditi Syndrome 19
741 c NPH086 Nephronophthisis 20 19
742 CRR012 Cirrhotic Cardiomyopathy 17
743 FLM003 Fulminant Viral Hepatitis 17
744 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 16
745 c LTN020 Late-Onset Nephronophthisis 14
746 GLL034 Gallbladder Neuroendocrine Tumor 13
747 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 12
748 c CLC009 Clcn7-Related Osteopetrosis 10
749 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 8
750 FLL045 Follicular Cholangitis and Pancreatitis 8
751 ADN082 Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract 7
752 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 7
753 SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 6
754 CNG340 Congenital Anomaly of Hepatic Vein 6
755 c SCN046 Secondary Short Bowel Syndrome 5
756 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 25
757 BDD001 Budd-Chiari Syndrome 59
758 P HMP002 Hemophagocytic Lymphohistiocytosis 66
759 ATR002 Atransferrinemia 50
760 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 47
761 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47
762 P END039 Endodermal Sinus Tumor 47
763 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 38
764 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 35
765 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 34
766 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
767 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 32
768 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 30
769 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 25
770 c ADL047 Adult Endodermal Sinus Tumor 9
771 c BTT014 Beta-Thalassemia 72
772 BRR014 Barrett Esophagus 70
773 P THL005 Thalassemia 65
774 P GLL020 Gallbladder Disease 62
775 P RBL001 Rubella 62
776 c ALP101 Alpha-Thalassemia 60
777 IGG001 Iga Glomerulonephritis 58
778 c CNG124 Congenital Rubella 48
779 P DYS026 Dysfibrinogenemia 47
780 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 44
781 c DYS165 Dysfibrinogenemia, Congenital 40
782 c PSD106 Pseudo-Torch Syndrome 1 37
783 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 35
784 FMR004 Fumarase Deficiency 35
785 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 30
786 PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29
787 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
788 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 22
789 P HYP821 Hypermanganesemia with Dystonia 20
790 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 14
791 PRM285 Primitive Portal Vein Thrombosis 12
792 OMN001 Omenn Syndrome 66
793 P CRG003 Crigler-Najjar Syndrome, Type I 61
794 RHB001 Rhabdoid Cancer 57
795 c MCK030 Meckel Syndrome, Type 7 36



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