Liver Diseases Category (794 diseases)


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

# Family MCID Name MIFTS
1 P HPT023 Hepatocellular Carcinoma 97
2 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 44
3 CHL128 Childhood Hepatocellular Carcinoma 48
4 MPV001 Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome 20
5 P NNL004 Nonalcoholic Fatty Liver Disease 56
6 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 29
7 c LVR030 Liver Failure, Infantile, Transient 27
8 PLY023 Polycystic Liver Disease 56
9 c GLY008 Glycogen Storage Disease Ii 67
10 c GLY005 Glycogen Storage Disease Vi 57
11 c GLY004 Glycogen Storage Disease V 55
12 c GLY011 Glycogen Storage Disease Vii 52
13 c GLY098 Glycogen Storage Disease, Type Ixd 40
14 c GLY023 Glycogen Storage Disease Type 0 39
15 c GLY017 Glycogen Storage Disease Ic 29
16 c GLY009 Glycogen Storage Disease Xv 29
17 c GLY043 Glycogen Storage Disease Xii 28
18 c GLY057 Glycogen Storage Disease X 28
19 c GLY001 Glycogen Storage Disease Ix 23
20 c GLY059 Glycogen Storage Disease Xiii 22
21 c GLY093 Glycogen Storage Disease Ixa 16
22 GLY058 Glycogen Storage Disease 0, Liver 29
23 FTT001 Fatty Liver Disease 66
24 P LVR013 Liver Disease 77
25 CRN296 Carnitine Palmitoyltransferase Ii Deficiency, Infantile 61
26 HPT082 Hepatic Adenomas, Familial 49
27 c INF145 Infantile Liver Failure Syndrome 1 48
28 c GLY097 Glycogen Storage Disease Ixb 29
29 MTC103 Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due to Dguok Deficiency 10
30 P PRP003 Porphyria Cutanea Tarda 67
31 c PRP091 Porphyria Cutanea Tarda, Type I 33
32 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 29
33 c FML324 Familial Porphyria Cutanea Tarda 24
34 P BLD036 Bile Duct Disease 51
35 CMB012 Combined Oxidative Phosphorylation Deficiency 1 31
36 GLY099 Glycogen Storage Disease Ixa1 30
37 FSC002 Fascioliasis 46
38 INT271 Interstitial Lung and Liver Disease 34
39 ALC009 Alcoholic Liver Cirrhosis 52
40 LVR002 Liver Angiosarcoma 48
41 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 52
42 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 35
43 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 21
44 c FTT008 Fatty Liver Disease, Nonalcoholic 1 61
45 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 53
46 c MTC061 Mitochondrial Dna Depletion Syndrome 1 46
47 c MTC060 Mitochondrial Dna Depletion Syndrome 9 33
48 c MTC063 Mitochondrial Dna Depletion Syndrome 3 31
49 c MTC088 Mitochondrial Dna Depletion Syndrome 13 31
50 c MTC062 Mitochondrial Dna Depletion Syndrome 2 30
51 c MTC059 Mitochondrial Dna Depletion Syndrome 5 29
52 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 28
53 c MTC078 Mitochondrial Dna Depletion Syndrome 11 27
54 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 26
55 c MTC126 Mitochondrial Dna Depletion Syndrome 14 23
56 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 23
57 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 22
58 c RRM004 Rrm2b-Related Mitochondrial Dna Depletion Syndrome 16
59 P MTC014 Mitochondrial Dna Deletion Syndromes 13
60 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 9
61 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 9
62 c ACT134 Acute Liver Failure 53
63 HPT014 Hepatorenal Syndrome 49
64 LVR003 Liver Carcinoma in Situ 10
65 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 17
66 CHL068 Cholestasis 60
67 c SPN294 Spinocerebellar Ataxia 1 60
68 P SPN301 Spinocerebellar Ataxia 2 60
69 c SPN327 Spinocerebellar Ataxia, Autosomal Recessive 1 59
70 HPT022 Hepatoblastoma 56
71 c SPN291 Spinocerebellar Ataxia 7 53
72 c SPN314 Spinocerebellar Ataxia 10 50
73 c SPN309 Spinocerebellar Ataxia 6 50
74 c SPN293 Spinocerebellar Ataxia 12 49
75 c SPN296 Spinocerebellar Ataxia 17 47
76 c SPN312 Spinocerebellar Ataxia 14 46
77 c SPN311 Spinocerebellar Ataxia 13 45
78 c SPN100 Spinocerebellar Ataxia 27 45
79 c SPN103 Spinocerebellar Ataxia 31 43
80 c SPN097 Spinocerebellar Ataxia 23 43
81 c SPN265 Spinocerebellar Ataxia 36 43
82 c SPN305 Spinocerebellar Ataxia 11 42
83 c SPN283 Spinocerebellar Ataxia 37 41
84 c SPN290 Spinocerebellar Ataxia 15 41
85 c SPN308 Spinocerebellar Ataxia 28 41
86 c SPN106 Spinocerebellar Ataxia 5 40
87 c SPN304 Spinocerebellar Ataxia 8 39
88 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 39
89 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 38
90 c SPN247 Spinocerebellar Ataxia Type 19/22 37
91 c SPN299 Spinocerebellar Ataxia 20 36
92 c SPN094 Spinocerebellar Ataxia 18 36
93 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 36
94 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 35
95 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 35
96 c SPN266 Spinocerebellar Ataxia 35 34
97 c SPN101 Spinocerebellar Ataxia 29 34
98 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 33
99 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 33
100 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 33
101 c SPN105 Spinocerebellar Ataxia 4 32
102 c SPN095 Spinocerebellar Ataxia 19 32
103 c SPN383 Spinocerebellar Ataxia 42 32
104 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 32
105 c SPN284 Spinocerebellar Ataxia 38 32
106 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 32
107 c SPN096 Spinocerebellar Ataxia 21 32
108 c SPN099 Spinocerebellar Ataxia 26 31
109 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 30
110 c SPN104 Spinocerebellar Ataxia 34 30
111 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 30
112 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 29
113 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 29
114 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 28
115 c SPN098 Spinocerebellar Ataxia 25 27
116 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 27
117 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 27
118 c SPN372 Spinocerebellar Ataxia 43 26
119 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 26
120 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 25
121 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
122 c SPN418 Spinocerebellar Ataxia 44 25
123 c SPN286 Spinocerebellar Ataxia 40 24
124 c SPN421 Spinocerebellar Ataxia 47 24
125 c SPN323 Spinocerebellar Ataxia 41 23
126 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 23
127 c SPN102 Spinocerebellar Ataxia 30 23
128 c SPN420 Spinocerebellar Ataxia 46 23
129 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
130 c SPN419 Spinocerebellar Ataxia 45 22
131 c SPN259 Spinocerebellar Ataxia 32 22
132 c SPN427 Spinocerebellar Ataxia 48 22
133 c INF138 Infantile Liver Failure Syndrome 2 21
134 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21
135 c SPN107 Spinocerebellar Ataxia 9 20
136 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 17
137 DXY001 Deoxyguanosine Kinase Deficiency 17
138 c GRD008 Grid2-Related Spinocerebellar Ataxia 11
139 P HYP750 Hypertriglyceridemia, Familial 58
140 P PRM006 Primary Biliary Cirrhosis 54
141 c HYP555 Hypertriglyceridemia, Transient Infantile 43
142 c BLR024 Biliary Cirrhosis, Primary, 1 39
143 BLR031 Biliary Tract Benign Neoplasm 36
144 BLD033 Bile Duct Adenoma 30
145 c BLR016 Biliary Cirrhosis, Primary, 2 17
146 c BLR017 Biliary Cirrhosis, Primary, 3 13
147 c BLR025 Biliary Cirrhosis, Primary, 4 11
148 c BLR026 Biliary Cirrhosis, Primary, 5 10
149 EXT028 Extrahepatic Bile Duct Adenoma 10
150 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63
151 c GLY044 Glycogen Storage Disease Ixc 38
152 UND001 Undifferentiated Embryonal Sarcoma of the Liver 32
153 LVR004 Liver Inflammatory Pseudotumor 27
154 BLD005 Bile Duct Mucoepidermoid Carcinoma 26
155 INT049 Intrahepatic Bile Duct Adenoma 25
156 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 24
157 c VSC053 Visceral Steatosis, Congenital 24
158 CMB089 Combined Hepatocellular Carcinoma and Cholangiocarcinoma 19
159 HPT011 Hepatocellular Clear Cell Carcinoma 13
160 EXT014 Extrahepatic Bile Duct Cystadenoma 9
161 CMM001 Common Bile Duct Neoplasm 8
162 INT037 Intrahepatic Bile Duct Cystadenoma 8
163 LVR007 Liver Fibroma 7
164 P HPT021 Hepatitis 74
165 c HPT016 Hepatitis B 70
166 c HPT001 Hepatitis C 69
167 ECH003 Echinococcosis 59
168 c HPT015 Hepatitis D 52
169 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 41
170 P CNG002 Congenital Bile Acid Synthesis Defect 31
171 NTM001 Nutmeg Liver 23
172 BLC012 Bile Acid Malabsorption, Primary 23
173 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
174 c HPT003 Hepatitis a 66
175 P CNG048 Congenital Hepatic Fibrosis 41
176 BLR028 Biliary Atresia, Extrahepatic 32
177 c CMM007 Common Bile Duct Disease 30
178 RJS001 Ruijs-Aalfs Syndrome 22
179 LVR010 Liver Leiomyosarcoma 18
180 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 15
181 LVR009 Liver Rhabdomyosarcoma 14
182 BLD035 Bile Duct Cystadenoma 14
183 BLD038 Bile Duct Sarcoma 11
184 BLD037 Bile Duct Rhabdomyosarcoma 10
185 ADN003 Adenosquamous Bile Duct Carcinoma 9
186 SQM004 Squamous Cell Bile Duct Carcinoma 9
187 EXT005 Extrahepatic Bile Duct Lipoma 7
188 EXT013 Extrahepatic Bile Duct Leiomyoma 7
189 EXT017 Extrahepatic Bile Duct Papillary Adenoma 7
190 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 64
191 CYS008 Cystic Echinococcosis 49
192 CLN003 Clonorchiasis 48
193 c ADL096 Adult Hepatocellular Carcinoma 48
194 HPT067 Hepatocellular Adenoma 45
195 HMN004 Hemangioma of Liver 38
196 LVR031 Liver Benign Neoplasm 28
197 LVR005 Liver Leiomyoma 24
198 LVR006 Liver Lymphoma 20
199 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 19
200 IGG017 Igg4-Related Hepatopathy 19
201 MXD007 Mixed Hepatoblastoma 19
202 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 14
203 LVR001 Liver Lipoma 13
204 c FTT007 Fatty Liver Disease, Nonalcoholic 2 13
205 c MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect 12
206 BLD007 Bile Duct Signet Ring Cell Carcinoma 9
207 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 9
208 CYT022 Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 8
209 MTC093 Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form 7
210 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 7
211 SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 4
212 UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 4
213 P MTC140 Mitochondrial Dna Maintenance Defects 3
214 SHR015 Short Stature Cranial Hyperostosis Hepatomegaly 3
215 PYR019 Pyruvate Kinase Deficiency, Liver Type 2
216 SHR028 Short Stature, Cranial Hyperostosis, Hepatomegaly and Diabetes 2
217 DRG002 Drug-Induced Hepatitis 41
218 PLS002 Peliosis Hepatis 38
219 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 35
220 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
221 GRW035 Growth Retardation, Intellectual Developmental Disorder, Hypotonia, and Hepatopathy 19
222 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 19
223 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 6
224 P ALG028 Alagille Syndrome 1 71
225 ALC006 Alcoholic Hepatitis 62
226 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 54
227 c GLL024 Gallbladder Disease 1 45
228 HPT008 Hepatic Tuberculosis 38
229 SCL056 Sclerosing Cholangitis, Neonatal 37
230 c ALG016 Alagille Syndrome 2 29
231 c GLL027 Gallbladder Disease 4 25
232 PRT112 Portal Hypertension, Noncirrhotic 21
233 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 19
234 c GLL026 Gallbladder Disease 3 12
235 c GLL025 Gallbladder Disease 2 12
236 LVR008 Liver Fibrosarcoma 8
237 c CNG411 Congenital Disorder of Glycosylation, Type in 65
238 P MTR004 Maturity-Onset Diabetes of the Young 61
239 c CNG415 Congenital Disorder of Glycosylation, Type Ia 53
240 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 53
241 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 52
242 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 51
243 c CNG208 Congenital Disorder of Glycosylation, Type Iic 50
244 P CNG412 Congenital Disorder of Glycosylation, Type Ii 49
245 c CNG191 Congenital Disorder of Glycosylation, Type Iia 47
246 HPT004 Hepatic Coma 45
247 c CNG497 Congenital Disorder of Glycosylation, Type Iio 43
248 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 43
249 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 42
250 c CNG190 Congenital Disorder of Glycosylation, Type Iib 42
251 c CNG204 Congenital Disorder of Glycosylation, Type Iih 41
252 c CNG203 Congenital Disorder of Glycosylation, Type Iii 40
253 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
254 c CNG206 Congenital Disorder of Glycosylation, Type Ie 40
255 c CNG389 Congenital Disorder of Glycosylation, Type Iim 40
256 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 39
257 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 39
258 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 39
259 c CNG201 Congenital Disorder of Glycosylation, Type Iij 39
260 c CNG209 Congenital Disorder of Glycosylation, Type Iif 38
261 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 38
262 BLR005 Biliary Papillomatosis 37
263 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 37
264 c ZMM002 Zimmermann-Laband Syndrome 1 37
265 c CNG197 Congenital Disorder of Glycosylation, Type Ih 36
266 c CNG189 Congenital Disorder of Glycosylation, Type Ib 36
267 BLR002 Bile Reflux 35
268 c CNG379 Congenital Disorder of Glycosylation, Type It 33
269 c CNG195 Congenital Disorder of Glycosylation, Type Id 32
270 HPT081 Hepatic Infarction 32
271 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 32
272 c CNG205 Congenital Disorder of Glycosylation, Type Ij 31
273 c CNG200 Congenital Disorder of Glycosylation, Type Iq 31
274 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 31
275 c CNG198 Congenital Disorder of Glycosylation, Type Il 31
276 c CNG196 Congenital Disorder of Glycosylation, Type Ic 30
277 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 30
278 c CNG188 Congenital Disorder of Glycosylation, Type if 30
279 NRT006 North American Indian Childhood Cirrhosis 30
280 c CNG199 Congenital Disorder of Glycosylation, Type Im 30
281 c CNG403 Congenital Disorder of Glycosylation, Type Ix 29
282 c CNG194 Congenital Disorder of Glycosylation, Type Ig 29
283 c CNG416 Congenital Disorder of Glycosylation, Type Iy 29
284 DST016 Distomatosis 28
285 P ZMM001 Zimmermann-Laband Syndrome 28
286 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 28
287 c CNG414 Congenital Disorder of Glycosylation, Type Iil 28
288 c CNG386 Congenital Disorder of Glycosylation, Type Iu 27
289 c CNG378 Congenital Disorder of Glycosylation, Type Ir 27
290 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 26
291 c CNG185 Congenital Disorder of Glycosylation, Type Iig 26
292 c CNG498 Congenital Disorder of Glycosylation, Type Iin 26
293 c CNG388 Congenital Disorder of Glycosylation, Type Iw 25
294 c CNG193 Congenital Disorder of Glycosylation, Type Ip 24
295 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 24
296 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 24
297 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 21
298 HPT066 Hepatoportal Sclerosis 21
299 DCR001 Dicrocoeliasis 19
300 c ZMM003 Zimmermann-Laband Syndrome 2 18
301 HPT028 Hepatic Cystic Hamartoma 17
302 MLY011 Maleylacetoacetate Isomerase Deficiency 16
303 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 12
304 FSC001 Fascioloidiasis 12
305 INT039 Intrahepatic Biliary Papillomatosis 12
306 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
307 SLT015 Solitary Necrotic Nodule of the Liver 11
308 PRM248 Primary Intrahepatic Lithiasis 11
309 EXT015 Extrahepatic Biliary Papillomatosis 9
310 PRF001 Perforation of Bile Duct 8
311 LVR029 Liver Fibrocystic Disease and Polydactyly 7
312 IDP083 Idiopathic Peliosis Hepatis 6
313 CNG533 Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome 6
314 MCR005 Macrotrabecular Hepatoblastoma 6
315 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 5
316 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 5
317 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
318 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 5
319 DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 5
320 BLN023 Bile and Pancreatic Ducts, Complete Absence of 4
321 HPT075 Hepatitis B Reinfection Following Liver Transplantation 3
322 RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 3
323 CYS001 Cystic Fibrosis 83
324 c HMC039 Hemochromatosis, Type 1 74
325 c HPT073 Hepatitis C Virus 73
326 P JBR020 Joubert Syndrome 1 69
327 c DNG003 Dengue Disease 67
328 CRB011 Cerebrotendinous Xanthomatosis 65
329 P DNG005 Dengue Virus 64
330 ALP103 Alpha-1-Antitrypsin Deficiency 62
331 P GLY013 Glycogen Storage Disease 62
332 P HRD008 Hereditary Hemorrhagic Telangiectasia 61
333 LYS012 Lysosomal Acid Lipase Deficiency 60
334 HPT046 Hepatic Veno-Occlusive Disease 59
335 c PRX045 Peroxisome Biogenesis Disorder 1b 59
336 P OMP004 Omphalocele 52
337 CCH002 Coach Syndrome 52
338 NDL013 Nodular Regenerative Hyperplasia 52
339 NNT017 Neonatal Adrenoleukodystrophy 52
340 P SCL009 Sclerosing Cholangitis 51
341 c PRX059 Peroxisome Biogenesis Disorder 1a 51
342 P JVN024 Juvenile Hereditary Hemochromatosis 44
343 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 43
344 c JBR024 Joubert Syndrome 14 41
345 c HMC021 Hemochromatosis, Type 2a 41
346 c CNG504 Congenital Disorder of Glycosylation, Type Iip 40
347 c JBR004 Joubert Syndrome 2 39
348 c JBR015 Joubert Syndrome 6 38
349 CHL039 Choledocholithiasis 37
350 c CNG383 Congenital Disorder of Glycosylation, Type Iik 37
351 c MTC010 Mitochondrial Dna Depletion Syndrome 37
352 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 33
353 c PRX055 Peroxisome Biogenesis Disorder 11a 33
354 c JBR041 Joubert Syndrome 3 32
355 c JBR025 Joubert Syndrome 17 31
356 c JBR022 Joubert Syndrome 20 30
357 c CNG192 Congenital Disorder of Glycosylation, Type Ik 30
358 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 30
359 c PRX060 Peroxisome Biogenesis Disorder 5a 30
360 c JBR012 Joubert Syndrome 5 29
361 c PRX063 Peroxisome Biogenesis Disorder 2a 29
362 CRL006 Caroli Disease, Isolated 29
363 c PRX056 Peroxisome Biogenesis Disorder 11b 29
364 c PRX048 Peroxisome Biogenesis Disorder 10a 28
365 c PRX054 Peroxisome Biogenesis Disorder 12a 28
366 c PRX053 Peroxisome Biogenesis Disorder 14b 28
367 c JBR014 Joubert Syndrome 9 27
368 c PRX051 Peroxisome Biogenesis Disorder 6a 27
369 c PSD107 Pseudo-Torch Syndrome 2 27
370 PRT094 Protoporphyria, Erythropoietic, X-Linked 27
371 c JBR026 Joubert Syndrome 15 26
372 c PRX050 Peroxisome Biogenesis Disorder 9b 25
373 c JBR031 Joubert Syndrome 21 25
374 c PRX046 Peroxisome Biogenesis Disorder 7a 25
375 c PRX091 Peroxisome Biogenesis Disorder 8a 25
376 c JBR016 Joubert Syndrome 10 25
377 c PRX057 Peroxisome Biogenesis Disorder 4a 25
378 c PRX065 Peroxisome Biogenesis Disorder 3a 25
379 c PRX043 Peroxisome Biogenesis Disorder 6b 25
380 c JBR013 Joubert Syndrome 8 24
381 c PRX052 Peroxisome Biogenesis Disorder 13a 24
382 c JBR011 Joubert Syndrome 7 24
383 c JBR042 Joubert Syndrome 23 23
384 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 23
385 c JBR030 Joubert Syndrome 22 23
386 c JBR018 Joubert Syndrome 4 23
387 IGG014 Igg4-Related Sclerosing Cholangitis 23
388 c PRX058 Peroxisome Biogenesis Disorder 4b 23
389 c PRX047 Peroxisome Biogenesis Disorder 5b 23
390 HYP481 Hyperbiliverdinemia 23
391 c PRX062 Peroxisome Biogenesis Disorder 8b 23
392 c HMC019 Hemochromatosis, Type 2b 23
393 c JBR037 Joubert Syndrome 26 22
394 c JBR021 Joubert Syndrome 18 22
395 c JBR035 Joubert Syndrome 24 22
396 P TRC034 Torch Syndrome 22
397 c JBR039 Joubert Syndrome 28 21
398 c JBR040 Joubert Syndrome 30 21
399 c JBR027 Joubert Syndrome 16 21
400 c PRX066 Peroxisome Biogenesis Disorder 3b 21
401 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
402 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 21
403 c JBR043 Joubert Syndrome 32 21
404 P PRX064 Peroxisome Biogenesis Disorder 2b 20
405 c JBR045 Joubert Syndrome 33 20
406 c PRX089 Peroxisome Biogenesis Disorder 10b 20
407 c PRX068 Peroxisome Biogenesis Disorder 7b 19
408 c JBR028 Joubert Syndrome 13 19
409 c JBR044 Joubert Syndrome 31 19
410 c JBR038 Joubert Syndrome 27 18
411 c SCN059 Secondary Sclerosing Cholangitis 18
412 c OMP009 Omphalocele, Autosomal 18
413 c JBR047 Joubert Syndrome 35 18
414 CNG491 Congenital Portosystemic Shunt 16
415 GNR029 Generalized Galactose Epimerase Deficiency 14
416 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 13
417 c TFR001 Tfr2-Related Hereditary Hemochromatosis 13
418 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 12
419 CHL098 Childhood Myocerebrohepatopathy Spectrum 12
420 ERY041 Erythrocyte Galactose Epimerase Deficiency 9
421 FRR002 Ferro-Cerebro-Cutaneous Syndrome 9
422 IDP084 Idiopathic Ductopenia 9
423 BLR023 Biliary Atresia with Splenic Malformation Syndrome 6
424 ISL112 Isolated Congenital Hepatic Fibrosis 5
425 IDP071 Idiopathic Copper-Associated Cirrhosis 5
426 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 4
427 ISL105 Isolated Agenesis of Gallbladder 4
428 ISL110 Isolated Neonatal Sclerosing Cholangitis 3
429 FBR086 Fibrolamellar Carcinoma 56
430 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 60
431 DBN001 Dubin-Johnson Syndrome 58
432 P TRC086 Trichohepatoenteric Syndrome 1 61
433 c TRC078 Trichohepatoenteric Syndrome 2 35
434 WLS001 Wilson Disease 71
435 c GLY060 Glycogen Storage Disease Ia 62
436 c TYR012 Tyrosinemia, Type I 56
437 P TYR004 Tyrosinemia 49
438 c TYR013 Tyrosinemia, Type Ii 47
439 c TYR011 Tyrosinemia, Type Iii 44
440 CHL065 Cholangiocarcinoma 65
441 BLR001 Biliary Atresia 57
442 EXT027 Extrahepatic Bile Duct Adenocarcinoma 36
443 BLD006 Bile Duct Clear Cell Adenocarcinoma 11
444 CRN295 Carnitine Palmitoyltransferase I Deficiency 54
445 BLD019 Bile Duct Cystadenocarcinoma 32
446 BLD002 Bile Duct Mucinous Adenocarcinoma 10
447 CRL004 Caroli Disease 40
448 LVR014 Liver Sarcoma 29
449 c CHL119 Cholangitis, Primary Sclerosing 63
450 c GLY003 Glycogen Storage Disease Iii 62
451 RYS001 Reye Syndrome 41
452 HPT019 Hepatic Encephalopathy 60
453 GLB001 Gilbert Syndrome 59
454 P CNG436 Congenital Disorder of Deglycosylation 44
455 OPS001 Opisthorchiasis 42
456 P VSC018 Visceral Steatosis 38
457 IMM140 Immunodeficiency 47 20
458 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 9
459 HPT017 Hepatic Osteogenic Sarcoma 9
460 INT014 Intrahepatic Gall Duct Cancer 8
461 TNG005 Tang Hsi Ryu Syndrome 7
462 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 6
463 ADN087 Adenocarcinoma of the Liver and Intrahepatic Biliary Tract 5
464 P PRG047 Progressive Familial Intrahepatic Cholestasis 56
465 INT079 Intrahepatic Cholangiocarcinoma 55
466 NNL002 Nonalcoholic Steatohepatitis 55
467 HPT070 Hepatosplenic T-Cell Lymphoma 36
468 c MTC058 Mitochondrial Dna Depletion Syndrome 6 33
469 HPT079 Hepatoid Adenocarcinoma 32
470 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 31
471 c ACT189 Acute Neonatal Citrullinemia Type I 9
472 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 9
473 c ATM011 Autoimmune Hepatitis 66
474 P BLD062 Bile Duct Cancer 64
475 PRM236 Primary Biliary Cholangitis 63
476 FRC011 Fructose Intolerance, Hereditary 60
477 GLC011 Galactose Epimerase Deficiency 48
478 BLD063 Bile Duct Cysts 47
479 PRL019 Prolidase Deficiency 44
480 BLD032 Bile Duct Adenocarcinoma 42
481 GLY015 Glycine N-Methyltransferase Deficiency 42
482 HPT020 Hepatic Vascular Disease 38
483 c GLY006 Glycogen Storage Disease Viii 26
484 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 26
485 DYK001 Dykes Markes Harper Syndrome 9
486 c BLD001 Bile Duct Carcinoma in Situ 8
487 c NMN015 Niemann-Pick Disease, Type C1 68
488 c NMN016 Niemann-Pick Disease, Type B 59
489 DBF001 D-Bifunctional Protein Deficiency 56
490 c NMN014 Niemann-Pick Disease, Type C2 53
491 P NMN002 Niemann-Pick Disease 50
492 P MTH008 Methylmalonic Acidemia 47
493 SLR001 Sialuria 44
494 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
495 TXC011 Toxocariasis 42
496 HMC038 Hemochromatosis, Neonatal 38
497 LTH002 Lathosterolosis 33
498 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 31
499 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 26
500 SCL007 Sclerosing Hepatic Carcinoma 25
501 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 22
502 LPT011 Lipoatrophy with Diabetes, Leukomelanodermic Papules, Liver Steatosis, and Hypertrophic Cardiomyopathy 17
503 DST001 Distal Biliary Tract Carcinoma 14
504 c MTH069 Methylmalonic Acidemia Due to Transcobalamin Receptor Defect 10
505 BLD018 Bladder Hepatoid Adenocarcinoma 6
506 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
507 c EPL184 Epileptic Encephalopathy, Early Infantile, 6 69
508 P DYS007 Dyskeratosis Congenita 67
509 LPD008 Lipid Metabolism Disorder 65
510 YLL002 Yellow Fever 65
511 PRP083 Porphyria, Acute Intermittent 63
512 P OST001 Osteopetrosis 63
513 P HYP724 Hyperlipoproteinemia, Type Iii 61
514 c VRL010 Viral Hepatitis 60
515 P NPH005 Nephronophthisis 56
516 c HPT007 Hepatitis E 56
517 c OST131 Osteopetrosis, Autosomal Dominant 2 53
518 c CRG004 Crigler-Najjar Syndrome, Type Ii 53
519 ALV002 Alveolar Echinococcosis 52
520 BTY001 Butyrylcholinesterase Deficiency 52
521 P SHR001 Short Bowel Syndrome 52
522 c OST163 Osteopetrosis, Autosomal Recessive 3 51
523 c HYP740 Hyperlipoproteinemia, Type V 51
524 MTC020 Mitochondrial Complex Ii Deficiency 50
525 P ERL057 Early Infantile Epileptic Encephalopathy 49
526 c HMC010 Hemochromatosis, Type 3 48
527 c HYP739 Hyperlipoproteinemia, Type Iv 47
528 c ATS282 Autosomal Recessive Malignant Osteopetrosis 47
529 c HMC009 Hemochromatosis Type 2 46
530 c HMC035 Hemochromatosis, Type 4 46
531 c OST129 Osteopetrosis, Autosomal Recessive 2 46
532 c NPH030 Nephronophthisis 2 46
533 c EPL025 Epileptic Encephalopathy, Early Infantile, 2 45
534 c NPH019 Nephronophthisis 1 45
535 c OST136 Osteopetrosis, Autosomal Recessive 7 43
536 c EPL169 Epileptic Encephalopathy, Early Infantile, 36 42
537 P CNG003 Congenital Dyserythropoietic Anemia 42
538 c EPL037 Epileptic Encephalopathy, Early Infantile, 1 42
539 c HYP768 Hyperlipoproteinemia, Type I 42
540 HYP236 Hyperbilirubinemia, Rotor Type 41
541 c EPL029 Epileptic Encephalopathy, Early Infantile, 9 40
542 c NPH053 Nephronophthisis 11 40
543 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 40
544 c NPH031 Nephronophthisis 3 40
545 c CNG413 Congenital Short Bowel Syndrome 39
546 c OST126 Osteopetrosis, Autosomal Recessive 1 38
547 c ANM043 Anemia, Congenital Dyserythropoietic, Type Ia 38
548 c NPH032 Nephronophthisis 4 38
549 c EPL027 Epileptic Encephalopathy, Early Infantile, 4 38
550 c DYS141 Dyskeratosis Congenita, Autosomal Dominant 1 38
551 TRN021 Transaldolase Deficiency 38
552 c NPH077 Nephronophthisis 19 37
553 c GLY016 Glycogen Storage Disease Ib 36
554 c DYS149 Dyskeratosis Congenita, Autosomal Recessive 1 36
555 c NPH075 Nephronophthisis 18 36
556 c NPH068 Nephronophthisis 16 36
557 c DYS174 Dyskeratosis Congenita, Autosomal Dominant 6 36
558 c NPH035 Nephronophthisis 9 35
559 c JVN041 Juvenile Nephronophthisis 35
560 c ANM042 Anemia, Congenital Dyserythropoietic, Type Ii 34
561 c DYS152 Dyskeratosis Congenita, Autosomal Recessive 5 34
562 c EPL183 Epileptic Encephalopathy, Early Infantile, 50 34
563 c EPL026 Epileptic Encephalopathy, Early Infantile, 3 34
564 PPC001 Pepck 1 Deficiency 33
565 c NPH033 Nephronophthisis 7 33
566 c ANM037 Anemia, Congenital Dyserythropoietic, Type Iii 33
567 c EPL023 Epileptic Encephalopathy, Early Infantile, 11 32
568 c EPL097 Epileptic Encephalopathy, Early Infantile, 14 32
569 c NPH069 Nephronophthisis 15 32
570 c EPL119 Epileptic Encephalopathy, Early Infantile, 17 32
571 MTC008 Mitochondrial Complex Iii Deficiency 32
572 c EPL068 Epileptic Encephalopathy, Early Infantile, 7 32
573 c HMC034 Hemochromatosis, Type 5 32
574 c OST134 Osteopetrosis, Autosomal Recessive 6 31
575 c NPH065 Nephronophthisis 13 31
576 PLY158 Polyglucosan Body Neuropathy, Adult Form 31
577 c EPL185 Epileptic Encephalopathy, Early Infantile, 39 31
578 c NPH071 Nephronophthisis 14 30
579 c HYP716 Hypermanganesemia with Dystonia 1 30
580 c INF147 Infantile Nephronophthisis 30
581 c DYS150 Dyskeratosis Congenita, Autosomal Recessive 3 30
582 c DYS143 Dyskeratosis Congenita, Autosomal Dominant 2 29
583 MTC151 Mitochondrial Complex I Deficiency, Nuclear Type 20 29
584 c EPL123 Epileptic Encephalopathy, Early Infantile, 23 29
585 c DYS039 Dyskeratosis Congenita Autosomal Dominant 28
586 c EPL117 Epileptic Encephalopathy, Early Infantile, 16 28
587 c DYS040 Dyskeratosis Congenita Autosomal Recessive 27
588 c ANM048 Anemia, Congenital Dyserythropoietic, Type Iv 26
589 c OST125 Osteopetrosis, Autosomal Dominant 1 26
590 c OST137 Osteopetrosis, Autosomal Recessive 4 26
591 c OST120 Osteopetrosis, Autosomal Recessive 5 26
592 c EPL181 Epileptic Encephalopathy, Early Infantile, 44 26
593 c EPL153 Epileptic Encephalopathy, Early Infantile, 29 25
594 c EPL173 Epileptic Encephalopathy, Early Infantile, 47 25
595 c EPL099 Epileptic Encephalopathy, Early Infantile, 15 25
596 c DYS147 Dyskeratosis Congenita, Autosomal Dominant 3 25
597 CMB008 Combined Oxidative Phosphorylation Deficiency 25
598 c EPL127 Epileptic Encephalopathy, Early Infantile, 21 25
599 c EPL135 Epileptic Encephalopathy, Early Infantile, 27 24
600 c EPL193 Epileptic Encephalopathy, Early Infantile, 35 24
601 c EPL024 Epileptic Encephalopathy, Early Infantile, 12 24
602 c EPL178 Epileptic Encephalopathy, Early Infantile, 51 24
603 c EPL194 Epileptic Encephalopathy, Early Infantile, 55 24
604 c EPL151 Epileptic Encephalopathy, Early Infantile, 31 24
605 c EPL190 Epileptic Encephalopathy, Early Infantile, 49 24
606 c EPL191 Epileptic Encephalopathy, Early Infantile, 48 24
607 c EPL028 Epileptic Encephalopathy, Early Infantile, 5 23
608 c ANM049 Anemia, Congenital Dyserythropoietic, Type Ib 23
609 c DYS144 Dyskeratosis Congenita, Autosomal Recessive 2 23
610 c OST106 Osteopetrosis, Autosomal Recessive 8 23
611 c EPL195 Epileptic Encephalopathy, Early Infantile, 53 23
612 c EPL223 Epileptic Encephalopathy, Early Infantile, 64 23
613 c EPL082 Epileptic Encephalopathy, Early Infantile, 13 23
614 c DYS173 Dyskeratosis Congenita, Autosomal Recessive 6 23
615 c EPL189 Epileptic Encephalopathy, Early Infantile, 37 23
616 c EPL172 Epileptic Encephalopathy, Early Infantile, 42 23
617 c EPL175 Epileptic Encephalopathy, Early Infantile, 43 23
618 c EPL139 Epileptic Encephalopathy, Early Infantile, 28 22
619 c EPL182 Epileptic Encephalopathy, Early Infantile, 54 22
620 c EPL180 Epileptic Encephalopathy, Early Infantile, 41 22
621 c EPL215 Epileptic Encephalopathy, Early Infantile, 58 22
622 c EPL102 Epileptic Encephalopathy, Early Infantile, 18 22
623 c EPL222 Epileptic Encephalopathy, Early Infantile, 63 22
624 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 22
625 c HYP713 Hypermanganesemia with Dystonia 2 22
626 c EPL159 Epileptic Encephalopathy, Early Infantile, 34 22
627 c EPL226 Epileptic Encephalopathy, Early Infantile, 66 22
628 HYP279 Hypercholanemia, Familial 22
629 c EPL177 Epileptic Encephalopathy, Early Infantile, 40 22
630 c EPL224 Epileptic Encephalopathy, Early Infantile, 65 22
631 c EPL176 Epileptic Encephalopathy, Early Infantile, 46 22
632 c EPL157 Epileptic Encephalopathy, Early Infantile, 30 22
633 c EPL126 Epileptic Encephalopathy, Early Infantile, 19 22
634 c EPL179 Epileptic Encephalopathy, Early Infantile, 52 22
635 c EPL038 Epileptic Encephalopathy, Early Infantile, 8 21
636 CMB019 Combined Oxidative Phosphorylation Deficiency 8 21
637 c EPL221 Epileptic Encephalopathy, Early Infantile, 62 21
638 c EPL156 Epileptic Encephalopathy, Early Infantile, 33 21
639 c EPL171 Epileptic Encephalopathy, Early Infantile, 38 21
640 P HYP821 Hypermanganesemia with Dystonia 21
641 c EPL130 Epileptic Encephalopathy, Early Infantile, 26 21
642 c EPL219 Epileptic Encephalopathy, Early Infantile, 61 21
643 c EPL216 Epileptic Encephalopathy, Early Infantile, 59 21
644 c NPH067 Nephronophthisis 12 21
645 c EPL218 Epileptic Encephalopathy, Early Infantile, 60 21
646 c EPL174 Epileptic Encephalopathy, Early Infantile, 45 21
647 c EPL211 Epileptic Encephalopathy, Early Infantile, 56 21
648 c EPL146 Epileptic Encephalopathy, Early Infantile, 32 21
649 c EPL125 Epileptic Encephalopathy, Early Infantile, 24 20
650 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 20
651 c OST171 Osteopetrosis, Autosomal Dominant 3 20
652 FTZ002 Fitz-Hugh-Curtis Syndrome 20
653 c EPL213 Epileptic Encephalopathy, Early Infantile, 57 20
654 c JBR036 Joubert Syndrome 25 19
655 c NPH086 Nephronophthisis 20 19
656 MRZ001 Mirizzi Syndrome 19
657 c HYP819 Hyperlipoproteinemia, Type Id 19
658 c EPL232 Epileptic Encephalopathy, Early Infantile, 68 18
659 c EPL229 Epileptic Encephalopathy, Early Infantile, 67 18
660 FBR097 Fibrosis, Neurodegeneration, and Cerebral Angiomatosis 17
661 c EPL233 Epileptic Encephalopathy, Early Infantile, 69 17
662 PTY007 Pityriasis Rotunda 17
663 CRR012 Cirrhotic Cardiomyopathy 17
664 c EPL234 Epileptic Encephalopathy, Early Infantile, 70 16
665 FLM003 Fulminant Viral Hepatitis 16
666 CNG062 Congenital Bronchobiliary Fistula 16
667 MTH025 Methylmalonyl-Coenzyme a Mutase Deficiency 15
668 c EPL235 Epileptic Encephalopathy, Early Infantile, 71 15
669 GLL034 Gallbladder Neuroendocrine Tumor 14
670 c LTN020 Late-Onset Nephronophthisis 13
671 c CLC009 Clcn7-Related Osteopetrosis 9
672 FLL045 Follicular Cholangitis and Pancreatitis 8
673 ADN082 Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract 7
674 SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 6
675 CNG340 Congenital Anomaly of Hepatic Vein 6
676 c SCN046 Secondary Short Bowel Syndrome 6
677 LPD013 Lipidosis with Triglycerid Storage Disease 5
678 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55
679 FNC009 Fanconi-Bickel Syndrome 54
680 RJB002 Rajab Interstitial Lung Disease with Brain Calcifications 21
681 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 53
682 KLT001 Klatskin's Tumor 52
683 c MTC054 Mitochondrial Dna Depletion Syndrome 7 46
684 P INT099 Intrahepatic Cholestasis of Pregnancy 59
685 MVL001 Mevalonic Aciduria 57
686 c GLY007 Glycogen Storage Disease Iv 52
687 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 47
688 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 47
689 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 35
690 MYC079 Myoclonic Epilepsy of Lafora 60
691 c GM1007 Gm1 Gangliosidosis 58
692 c NMN013 Niemann-Pick Disease, Type a 58
693 c GM1004 Gm1-Gangliosidosis, Type I 57
694 GLL018 Gallbladder Cancer 55
695 c GM2005 Gm2-Gangliosidosis, Ab Variant 49
696 c GM2006 Gm2 Gangliosidosis 49
697 RYN003 Reynolds Syndrome 47
698 P GNG009 Gangliosidosis 47
699 P END039 Endodermal Sinus Tumor 46
700 c GM1005 Gm1-Gangliosidosis, Type Ii 45
701 JBR006 Joubert Syndrome with Oculorenal Anomalies 44
702 P CTR177 Citrullinemia, Type Ii, Adult-Onset 38
703 GCH018 Gaucher Disease, Perinatal Lethal 37
704 PRM205 Primary Hepatic Neuroendocrine Carcinoma 34
705 c GM1006 Gm1-Gangliosidosis, Type Iii 33
706 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 31
707 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 23
708 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 23
709 c GM2001 Gm2 Gangliosidosis, 0 Variant 9
710 c ADL047 Adult Endodermal Sinus Tumor 9
711 c ADL083 Adult-Onset Citrullinemia Type I 8
712 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 7
713 c MCP050 Mucopolysaccharidosis, Type Ii 67
714 GLC006 Galactosemia 65
715 MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 65
716 c MCP049 Mucopolysaccharidosis, Type Vii 65
717 P GLL020 Gallbladder Disease 64
718 c MCP001 Mucopolysaccharidosis Iii 63
719 P PLY014 Polycystic Kidney Disease 63
720 c MCP052 Mucopolysaccharidosis, Type Vi 62
721 c ATS347 Autosomal Dominant Polycystic Kidney Disease 61
722 P MCP040 Mucopolysaccharidosis-Plus Syndrome 60
723 c MCP004 Mucopolysaccharidosis Iv 60
724 P BCK002 Beckwith-Wiedemann Syndrome 59
725 FML026 Familial Lipoprotein Lipase Deficiency 53
726 c MCP043 Mucopolysaccharidosis, Type Iiia 53
727 HPT025 Hepatic Lipase Deficiency 47
728 c MCP047 Mucopolysaccharidosis, Type Iva 45
729 c MCP044 Mucopolysaccharidosis, Type Iiib 44
730 PRG008 Paragonimiasis 43
731 CRT046 Corticosteroid-Binding Globulin Deficiency 43
732 FML330 Familial Lcat Deficiency 43
733 IRN008 Iron Overload in Africa 42
734 MTH078 Methylmalonic Aciduria, Cblb Type 40
735 CHL073 Cholestasis-Lymphedema Syndrome 38
736 c PSD106 Pseudo-Torch Syndrome 1 38
737 c MCP051 Mucopolysaccharidosis, Type Ix 35
738 MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 35
739 c MCP045 Mucopolysaccharidosis, Type Iiic 34
740 c MCP048 Mucopolysaccharidosis, Type Ivb 33
741 GRC001 Gracile Syndrome 33
742 c MCP046 Mucopolysaccharidosis, Type Iiid 31
743 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 23
744 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 23
745 CMB042 Combined Oxidative Phosphorylation Deficiency 16 21
746 CHL076 Chilaiditi Syndrome 20
747 c PLY141 Polycystic Kidney Disease 5 18
748 c MCP035 Mucopolysaccharidosis Type 2, Severe Form 17
749 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 15
750 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 13
751 c BCK012 Beckwith-Wiedemann Syndrome Due to Imprinting Defect of 11p15 13
752 PRM285 Primitive Portal Vein Thrombosis 13
753 c PLY176 Polycystic Kidney Disease 4 8
754 c BCK015 Beckwith-Wiedemann Syndrome Due to Paternal Uniparental Disomy of Chromosome 11 7
755 c BCK011 Beckwith-Wiedemann Syndrome Due to 11p15 Translocation/inversion 6
756 BDD001 Budd-Chiari Syndrome 60
757 P HMP002 Hemophagocytic Lymphohistiocytosis 68
758 ATR002 Atransferrinemia 51
759 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 46
760 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 41
761 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 37
762 DHY016 Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema 35
763 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 33
764 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 27
765 c BTT014 Beta-Thalassemia 73
766 BRR014 Barrett Esophagus 71
767 P THL005 Thalassemia 65
768 P RBL001 Rubella 62
769 c ALP101 Alpha-Thalassemia 61
770 IGG001 Iga Glomerulonephritis 58
771 c CNG124 Congenital Rubella 49
772 P DYS026 Dysfibrinogenemia 47
773 c DYS165 Dysfibrinogenemia, Congenital 37
774 FMR004 Fumarase Deficiency 35
775 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 34
776 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 29
777 PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 29
778 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 29
779 OMN001 Omenn Syndrome 67
780 P MCK013 Meckel Syndrome, Type 1 63
781 P CRG003 Crigler-Najjar Syndrome, Type I 60
782 RHB001 Rhabdoid Cancer 58
783 c MCK012 Meckel Syndrome, Type 6 42
784 c MCK032 Meckel Syndrome, Type 3 41
785 c MCK031 Meckel Syndrome, Type 2 37
786 c MCK033 Meckel Syndrome, Type 4 36
787 c MCK030 Meckel Syndrome, Type 7 36
788 c MCK014 Meckel Syndrome, Type 5 35
789 c MCK034 Meckel Syndrome, Type 8 31
790 c MCK028 Meckel Syndrome 13 25
791 c MCK035 Meckel Syndrome, Type 10 23
792 c MCK026 Meckel Syndrome 12 22
793 c MCK036 Meckel Syndrome, Type 9 20
794 c MCK020 Meckel Syndrome, Type 11 19



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