Liver Diseases Category (845 diseases)


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

# Family MCID Name MIFTS
1 BLR001 Biliary Atresia 55
2 PDT042 Pediatric Hepatocellular Carcinoma 51
3 GLY058 Glycogen Storage Disease 0, Liver 34
4 FTT001 Fatty Liver Disease 61
5 NNL005 Non-Alcoholic Fatty Liver Disease 63
6 HPT082 Hepatic Adenomas, Familial 39
7 FSC002 Fascioliasis 43
8 GLY099 Glycogen Storage Disease Ixa1 35
9 P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 58
10 P BLD036 Bile Duct Disease 43
11 LVR003 Liver Carcinoma in Situ 18
12 LVR002 Liver Angiosarcoma 42
13 P FTT008 Fatty Liver Disease, Nonalcoholic 1 48
14 BLR031 Biliary Tract Benign Neoplasm 32
15 c PLY173 Polycystic Liver Disease 2 with or Without Kidney Cysts 23
16 CHL068 Cholestasis 61
17 HPT011 Hepatocellular Clear Cell Carcinoma 46
18 c VSC053 Visceral Steatosis, Congenital 35
19 HPT022 Hepatoblastoma 54
20 BLD033 Bile Duct Adenoma 35
21 c PLY175 Polycystic Liver Disease 4 with or Without Kidney Cysts 19
22 ALC009 Alcoholic Liver Cirrhosis 54
23 HPT014 Hepatorenal Syndrome 49
24 EXT028 Extrahepatic Bile Duct Adenoma 28
25 CRN295 Carnitine Palmitoyltransferase I Deficiency 55
26 RJS001 Ruijs-Aalfs Syndrome 47
27 BLC012 Bile Acid Malabsorption, Primary 45
28 CLN003 Clonorchiasis 42
29 INT049 Intrahepatic Bile Duct Adenoma 32
30 BLD005 Bile Duct Mucoepidermoid Carcinoma 28
31 DST001 Distal Biliary Tract Carcinoma 24
32 LVR007 Liver Fibroma 21
33 CMM001 Common Bile Duct Neoplasm 17
34 ICH076 Ichthyosis Congenita with Biliary Atresia 9
35 INT037 Intrahepatic Bile Duct Cystadenoma 8
36 EXT014 Extrahepatic Bile Duct Cystadenoma 8
37 ECH003 Echinococcosis 52
38 BLD035 Bile Duct Cystadenoma 32
39 P BLR024 Biliary Cirrhosis, Primary, 1 27
40 NTM001 Nutmeg Liver 24
41 EXT021 Extrahepatic Bile Duct Leiomyosarcoma 8
42 EXT005 Extrahepatic Bile Duct Lipoma 7
43 HPT019 Hepatic Encephalopathy 59
44 CYS008 Cystic Echinococcosis 57
45 LVR010 Liver Leiomyosarcoma 30
46 BLR005 Biliary Papillomatosis 30
47 LMB010 Lambert Syndrome 30
48 c CMM007 Common Bile Duct Disease 30
49 SQM004 Squamous Cell Bile Duct Carcinoma 26
50 LVR001 Liver Lipoma 22
51 ADN003 Adenosquamous Bile Duct Carcinoma 20
52 ICH067 Ichthyosis, Hepatosplenomegaly, and Cerebellar Degeneration 18
53 c PLY174 Polycystic Liver Disease 3 with or Without Kidney Cysts 17
54 LVR009 Liver Rhabdomyosarcoma 16
55 BLD037 Bile Duct Rhabdomyosarcoma 11
56 EXT013 Extrahepatic Bile Duct Leiomyoma 8
57 EXT017 Extrahepatic Bile Duct Papillary Adenoma 7
58 NNL006 Non-Alcoholic Steatohepatitis 54
59 P CNG436 Congenital Disorder of Deglycosylation 51
60 EXT006 Extrahepatic Cholestasis 41
61 OPS001 Opisthorchiasis 41
62 BLR004 Biliary Dyskinesia 37
63 HMN004 Hemangioma of Liver 34
64 SCL056 Sclerosing Cholangitis, Neonatal 33
65 P VSC018 Visceral Steatosis 32
66 LVR031 Liver Benign Neoplasm 30
67 LVR005 Liver Leiomyoma 29
68 LVR006 Liver Lymphoma 26
69 P MTC140 Mitochondrial Dna Maintenance Defects 25
70 INT039 Intrahepatic Biliary Papillomatosis 24
71 MXD007 Mixed Hepatoblastoma 18
72 c MPV002 Mpv17-Related Mitochondrial Dna Maintenance Defect 18
73 c NGL006 Ngly1-Related Congenital Disorder of Deglycosylation 16
74 BLC020 Bile Acid Conjugation Defect 1 16
75 c FTT007 Fatty Liver Disease, Nonalcoholic 2 12
76 IDP068 Idiopathic Malabsorption Due to Bile Acid Synthesis Defects 12
77 EXT015 Extrahepatic Biliary Papillomatosis 11
78 BLD007 Bile Duct Signet Ring Cell Carcinoma 9
79 TNG005 Tang Hsi Ryu Syndrome 9
80 CYT022 Cytochrome C Oxidase, Subunit 7a2, Pseudogene 2 8
81 EMB001 Embryonal Extrahepatic Bile Duct Rhabdomyosarcoma 6
82 VSC062 Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 6
83 GNT073 Genetic Visceral Malformation of the Liver, Biliary Tract, Pancreas or Spleen 5
84 BLR013 Biliary Tract Cancer 43
85 DRG002 Drug-Induced Hepatitis 42
86 P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 41
87 LTH002 Lathosterolosis 38
88 PLS002 Peliosis Hepatis 32
89 c BLR016 Biliary Cirrhosis, Primary, 2 15
90 c BLR026 Biliary Cirrhosis, Primary, 5 12
91 c BLR025 Biliary Cirrhosis, Primary, 4 11
92 c BLR017 Biliary Cirrhosis, Primary, 3 10
93 c ACT189 Acute Neonatal Citrullinemia Type I 8
94 HPT010 Hepatoid Pattern Ovarian Yolk Sac Tumor 5
95 ALC006 Alcoholic Hepatitis 61
96 TRN021 Transaldolase Deficiency 43
97 GLY015 Glycine N-Methyltransferase Deficiency 40
98 P ZMM001 Zimmermann-Laband Syndrome 39
99 PHS018 Phosphorylase Kinase Deficiency 37
100 HPT008 Hepatic Tuberculosis 37
101 PRT112 Portal Hypertension, Noncirrhotic 29
102 MXD042 Mixed Fibrolamellar Hepatocellular Carcinoma 24
103 P HYP252 Hypochromic Microcytic Anemia with Iron Overload 18
104 LVR008 Liver Fibrosarcoma 13
105 c NMN015 Niemann-Pick Disease, Type C1 68
106 P MTR004 Maturity-Onset Diabetes of the Young 66
107 c NMN013 Niemann-Pick Disease, Type a 63
108 c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62
109 P NMN002 Niemann-Pick Disease 60
110 c NMN016 Niemann-Pick Disease, Type B 56
111 c MTR020 Maturity-Onset Diabetes of the Young, Type 3 54
112 c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53
113 c NMN014 Niemann-Pick Disease, Type C2 49
114 CMB020 Combined Saposin Deficiency 47
115 c MTR021 Maturity-Onset Diabetes of the Young, Type 4 44
116 HPT004 Hepatic Coma 43
117 c MTR044 Maturity-Onset Diabetes of the Young, Type 10 42
118 c MTR024 Maturity-Onset Diabetes of the Young, Type 7 41
119 c MTR023 Maturity-Onset Diabetes of the Young, Type 6 41
120 c MTR075 Maturity-Onset Diabetes of the Young, Type 13 40
121 c MTR039 Maturity-Onset Diabetes of the Young, Type 11 39
122 BLR002 Bile Reflux 38
123 c MTR026 Maturity-Onset Diabetes of the Young, Type 9 36
124 c ANM035 Anemia, Hypochromic Microcytic, with Iron Overload 1 36
125 c MTR074 Maturity-Onset Diabetes of the Young, Type 14 33
126 HPT081 Hepatic Infarction 32
127 DCR001 Dicrocoeliasis 31
128 c ANM027 Anemia, Hypochromic Microcytic, with Iron Overload 2 26
129 DST016 Distomatosis 22
130 DYS031 Dystonia/parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease 14
131 PRF001 Perforation of Bile Duct 13
132 FSC001 Fascioloidiasis 13
133 NPH100 Nephropathy, Progressive Tubulointerstitial, with Cholestatic Liver Disease 11
134 BLR012 Biliary Hypoplasia 11
135 KTM001 Ketamine-Induced Biliary Dilatation 9
136 MCR005 Macrotrabecular Hepatoblastoma 8
137 LVR029 Liver Fibrocystic Disease and Polydactyly 7
138 PRN005 Perinatal Jaundice Due to Hepatocellular Damage 5
139 HPT013 Hepatoid Pattern Testicular Yolk Sac Tumor 5
140 BLR011 Biliary Atresia Intrahepatic Syndromic Form 4
141 RRD034 Rare Disorder Potentially Indicated for Liver Transplant 3
142 GNT103 Genetic Biliary Tract Disease 3
143 GNT104 Genetic Parenchymatous Liver Disease 3
144 BLR010 Biliary Atresia Intrahepatic Non Syndromic Form 2
145 PYR019 Pyruvate Kinase Deficiency, Liver Type 2
146 c HMC039 Hemochromatosis, Type 1 73
147 ALP103 Alpha-1-Antitrypsin Deficiency 67
148 P CRG003 Crigler-Najjar Syndrome, Type I 64
149 c HPT016 Hepatitis B 62
150 c MTC056 Mitochondrial Dna Depletion Syndrome 4a 62
151 YLL002 Yellow Fever 61
152 CHL065 Cholangiocarcinoma 57
153 c CHL119 Cholangitis, Primary Sclerosing 57
154 P RRH023 Rare Hereditary Hemochromatosis 52
155 c HMC035 Hemochromatosis, Type 4 52
156 c HPT007 Hepatitis E 50
157 c HMC010 Hemochromatosis, Type 3 49
158 c HPT015 Hepatitis D 49
159 c DVL029 Developmental and Epileptic Encephalopathy 2 47
160 P SCL009 Sclerosing Cholangitis 46
161 c HMC021 Hemochromatosis, Type 2a 42
162 c HMC034 Hemochromatosis, Type 5 41
163 c DVL052 Developmental and Epileptic Encephalopathy 26 39
164 c SPN247 Spinocerebellar Ataxia Type 19/22 38
165 CHL039 Choledocholithiasis 37
166 c DVL060 Developmental and Epileptic Encephalopathy 50 37
167 c HMC019 Hemochromatosis, Type 2b 36
168 GLY111 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency Type Ib 36
169 CRY036 Cryptogenic Cirrhosis 36
170 CMB008 Combined Oxidative Phosphorylation Deficiency 35
171 c ATM112 Autoimmune Hepatitis Type 1 32
172 c CNG416 Congenital Disorder of Glycosylation, Type Iy 30
173 c PRP091 Porphyria Cutanea Tarda, Type I 30
174 c PRX058 Peroxisome Biogenesis Disorder 4b 29
175 c DVL048 Developmental and Epileptic Encephalopathy 21 29
176 c SPN098 Spinocerebellar Ataxia 25 29
177 c PRX053 Peroxisome Biogenesis Disorder 14b 28
178 c CNG496 Congenital Disorder of Glycosylation, Type Iiq 28
179 c PRX066 Peroxisome Biogenesis Disorder 3b 28
180 c GLL027 Gallbladder Disease 4 27
181 c SPN418 Spinocerebellar Ataxia 44 27
182 c PRX068 Peroxisome Biogenesis Disorder 7b 26
183 CPL001 Capillariasis 26
184 c SPN254 Spinocerebellar Ataxia, Autosomal Recessive 11 25
185 c DVL116 Developmental and Epileptic Encephalopathy 93 24
186 PHS028 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial 24
187 c DVL087 Developmental and Epileptic Encephalopathy 63 24
188 IGG014 Igg4-Related Sclerosing Cholangitis 23
189 c DVL082 Developmental and Epileptic Encephalopathy 58 22
190 CHL098 Childhood Myocerebrohepatopathy Spectrum 21
191 MTC215 Mitochondrial Complex Iv Deficiency, Nuclear Type 4 21
192 c TFR001 Tfr2-Related Hereditary Hemochromatosis 21
193 SRN003 Seronegative Autoimmune Hepatitis 13
194 c GLL025 Gallbladder Disease 2 12
195 INC036 Incomplete Septal Cirrhosis 11
196 c ADL083 Adult-Onset Citrullinemia Type I 11
197 IDP071 Idiopathic Copper-Associated Cirrhosis 10
198 ISL105 Isolated Agenesis of Gallbladder 5
199 CNG573 Congenital Disorder of Glycosylation with Hepatic Involvement 4
200 ISL110 Isolated Neonatal Sclerosing Cholangitis 4
201 LPD013 Lipidosis with Triglycerid Storage Disease 3
202 EXT027 Extrahepatic Bile Duct Adenocarcinoma 32
203 BLD006 Bile Duct Clear Cell Adenocarcinoma 10
204 INT014 Intrahepatic Gall Duct Cancer 29
205 BLD002 Bile Duct Mucinous Adenocarcinoma 26
206 LVR014 Liver Sarcoma 26
207 BLD038 Bile Duct Sarcoma 11
208 HPT017 Hepatic Osteogenic Sarcoma 8
209 EXT002 Extrahepatic Bile Duct Small Cell Adenocarcinoma 5
210 c ATS347 Autosomal Dominant Polycystic Kidney Disease 64
211 P GLL018 Gallbladder Cancer 59
212 INT079 Intrahepatic Cholangiocarcinoma 51
213 HPT079 Hepatoid Adenocarcinoma 39
214 HPT070 Hepatosplenic T-Cell Lymphoma 35
215 c GLL050 Gallbladder Carcinoma in Situ 9
216 P BLD062 Bile Duct Cancer 69
217 P HYP768 Hyperlipoproteinemia, Type I 67
218 c HYP724 Hyperlipoproteinemia, Type Iii 66
219 c HYP740 Hyperlipoproteinemia, Type V 54
220 c HYP739 Hyperlipoproteinemia, Type Iv 53
221 BLD032 Bile Duct Adenocarcinoma 34
222 STM015 Stomatin-Deficient Cryohydrocytosis with Neurologic Defects 30
223 c HYP819 Hyperlipoproteinemia, Type Id 25
224 c BLD001 Bile Duct Carcinoma in Situ 10
225 P PLY014 Polycystic Kidney Disease 71
226 GCH018 Gaucher Disease, Perinatal Lethal 41
227 OVR093 Overhydrated Hereditary Stomatocytosis 41
228 SCC011 Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency 34
229 SCL007 Sclerosing Hepatic Carcinoma 28
230 c PLY176 Polycystic Kidney Disease 4 25
231 SPN359 Spondyloepimetaphyseal Dysplasia, Shohat Type 25
232 c PLY141 Polycystic Kidney Disease 5 24
233 CRR016 Cirrhosis, Familial 23
234 MLY011 Maleylacetoacetate Isomerase Deficiency 19
235 BLR029 Biliary Malformation with Renal Tubular Insufficiency 15
236 MSC130 Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome 11
237 BLR003 Biliary Tract Intraductal Papillary Mucinous Neoplasm 10
238 BLD018 Bladder Hepatoid Adenocarcinoma 6
239 BLN023 Bile and Pancreatic Ducts, Complete Absence of 5
240 AFL001 Aflatoxins-Related Hepatocellular Carcinoma 5
241 PPL008 Papillary Extrahepatic Bile Duct Adenocarcinoma 4
242 NRM007 Neuroma Biliary Tract 3
243 P ALG028 Alagille Syndrome 1 73
244 P ART022 Arthritis 70
245 P LVR013 Liver Disease 68
246 c DNG003 Dengue Disease 65
247 c GLY060 Glycogen Storage Disease Ia 62
248 3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62
249 P INT099 Intrahepatic Cholestasis of Pregnancy 61
250 c PRX045 Peroxisome Biogenesis Disorder 1b 61
251 CHL067 Cholecystitis 59
252 c PRX059 Peroxisome Biogenesis Disorder 1a 57
253 c JVN061 Juvenile Arthritis 56
254 P DNG005 Dengue Virus 55
255 HPT046 Hepatic Veno-Occlusive Disease 54
256 c NPH019 Nephronophthisis 1 50
257 c NPH030 Nephronophthisis 2 50
258 GLY031 Glycoproteinosis 49
259 c MCK033 Meckel Syndrome, Type 4 48
260 c MCK012 Meckel Syndrome, Type 6 47
261 CMB026 Combined Oxidative Phosphorylation Deficiency 12 47
262 P BLR006 Biliary Tract Disease 46
263 c CRG004 Crigler-Najjar Syndrome, Type Ii 46
264 c NPH032 Nephronophthisis 4 46
265 c NPH031 Nephronophthisis 3 46
266 c SPN312 Spinocerebellar Ataxia 14 46
267 c JVN041 Juvenile Nephronophthisis 45
268 c NPH071 Nephronophthisis 14 45
269 c NPH053 Nephronophthisis 11 45
270 c NPH068 Nephronophthisis 16 44
271 c MTC062 Mitochondrial Dna Depletion Syndrome 2 44
272 c SPN273 Spinocerebellar Ataxia, Autosomal Recessive 16 44
273 c NPH035 Nephronophthisis 9 44
274 c NPH067 Nephronophthisis 12 43
275 c NPH069 Nephronophthisis 15 43
276 c NPH033 Nephronophthisis 7 42
277 GLY065 Glycogen Storage Disease Due to Liver Phosphorylase Kinase Deficiency 41
278 c NPH075 Nephronophthisis 18 41
279 c NPH065 Nephronophthisis 13 40
280 PLY158 Polyglucosan Body Neuropathy, Adult Form 39
281 NRT006 North American Indian Childhood Cirrhosis 38
282 c BLC011 Bile Acid Synthesis Defect, Congenital, 3 38
283 P CNG048 Congenital Hepatic Fibrosis 36
284 PPC001 Pepck 1 Deficiency 35
285 c DVL067 Developmental and Epileptic Encephalopathy 42 35
286 c TRC078 Trichohepatoenteric Syndrome 2 35
287 c BLC009 Bile Acid Synthesis Defect, Congenital, 4 34
288 c GLY043 Glycogen Storage Disease Xii 33
289 CRL006 Caroli Disease, Isolated 32
290 c SPN094 Spinocerebellar Ataxia 18 32
291 c ART063 Arthrogryposis, Renal Dysfunction, and Cholestasis 2 32
292 c INF147 Infantile Nephronophthisis 32
293 c TRN014 Transient Arthritis 32
294 c SPN292 Spinocerebellar Ataxia, Autosomal Recessive 18 31
295 3HY011 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency 31
296 LVR004 Liver Inflammatory Pseudotumor 30
297 c INF138 Infantile Liver Failure Syndrome 2 29
298 LVR032 Liver Adenomatosis 28
299 P PRX064 Peroxisome Biogenesis Disorder 2b 28
300 c ATM111 Autoimmune Hepatitis Type 2 28
301 TRC123 Trichohepatoneurodevelopmental Syndrome 27
302 c MCK020 Meckel Syndrome, Type 11 26
303 P HYP821 Hypermanganesemia with Dystonia 26
304 c DVL071 Developmental and Epileptic Encephalopathy 46 26
305 GRW040 Growth Retardation, Impaired Intellectual Development, Hypotonia, and Hepatopathy 25
306 PRN071 Parenteral Nutrition-Associated Cholestasis 23
307 c SPN375 Spinocerebellar Ataxia, Autosomal Recessive 22 23
308 CRR012 Cirrhotic Cardiomyopathy 22
309 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 22
310 c SPN378 Spinocerebellar Ataxia, Autosomal Recessive 25 22
311 c NPH086 Nephronophthisis 20 22
312 c SCN059 Secondary Sclerosing Cholangitis 22
313 c SPN111 Spinocerebellar Ataxia Autosomal Recessive 5 21
314 c INF190 Infantile Liver Failure Syndrome 3 21
315 HPT066 Hepatoportal Sclerosis 21
316 c SPN259 Spinocerebellar Ataxia 32 19
317 MRZ001 Mirizzi Syndrome 19
318 FTZ002 Fitz-Hugh-Curtis Syndrome 19
319 CHL076 Chilaiditi Syndrome 18
320 CNG491 Congenital Portosystemic Shunt 17
321 HPT028 Hepatic Cystic Hamartoma 17
322 STR032 Steroid Dehydrogenase Deficiency Dental Anomalies 14
323 c DVL119 Developmental and Epileptic Encephalopathy 6b 13
324 PRM248 Primary Intrahepatic Lithiasis 13
325 c HPT084 Hepatic Fibrosis, Severe Due to Schistosoma Mansoni Infection 13
326 FVR002 Fever-Associated Acute Infantile Liver Failure Syndrome 13
327 IDP084 Idiopathic Ductopenia 12
328 c LTN020 Late-Onset Nephronophthisis 11
329 FRR002 Ferro-Cerebro-Cutaneous Syndrome 10
330 ISL112 Isolated Congenital Hepatic Fibrosis 9
331 PRT256 Portosinusoidal Vascular Disease 9
332 SYN122 Syndromic Biliary Atresia 9
333 c MY5001 Myo5b-Related Progressive Familial Intrahepatic Cholestasis 8
334 IDP083 Idiopathic Peliosis Hepatis 7
335 BLC013 Bile Acid Coa Ligase Deficiency and Defective Amidation 6
336 CNG340 Congenital Anomaly of Hepatic Vein 5
337 BLC019 Bile Acid Synthesis Defect with Cholestasis and Malabsorption 4
338 GRW022 Growth Retardation-Mild Developmental Delay-Chronic Hepatitis Syndrome 4
339 FBR098 Fibrohistiocytic Inflammatory Pseudotumor of the Liver 4
340 RCR023 Recurrent Hepatitis C Virus Induced Liver Disease in Liver Transplant Recipients 4
341 BLR032 Biliary Atresia and Associated Disorders 3
342 HPT075 Hepatitis B Reinfection Following Liver Transplantation 3
343 P RJB003 Rajab Interstitial Lung Disease with Brain Calcifications 1 31
344 RNL051 Renal Cysts and Diabetes Syndrome 58
345 c ZMM002 Zimmermann-Laband Syndrome 1 35
346 c ZMM003 Zimmermann-Laband Syndrome 2 23
347 c ZMM004 Zimmermann-Laband Syndrome 3 22
348 ARM010 Arima Syndrome 56
349 DHY010 Dihydrolipoamide Dehydrogenase Deficiency 48
350 c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 65
351 c GM1007 Gm1 Gangliosidosis 65
352 P HMP002 Hemophagocytic Lymphohistiocytosis 60
353 c GM1004 Gm1-Gangliosidosis, Type I 59
354 c GM2005 Gm2-Gangliosidosis, Ab Variant 53
355 c GM1005 Gm1-Gangliosidosis, Type Ii 50
356 c HMP014 Hemophagocytic Lymphohistiocytosis, Familial, 4 49
357 c HMP012 Hemophagocytic Lymphohistiocytosis, Familial, 2 47
358 c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 47
359 c GM2006 Gm2 Gangliosidosis 46
360 c GM1006 Gm1-Gangliosidosis, Type Iii 46
361 ALP012 Alpha-Methylacyl-Coa Racemase Deficiency 44
362 P GNG009 Gangliosidosis 44
363 c HMP023 Hemophagocytic Lymphohistiocytosis, Familial, 5 42
364 P END039 Endodermal Sinus Tumor 42
365 c SCN069 Secondary Hemophagocytic Lymphohistiocytosis 33
366 c PRM304 Primary Hemophagocytic Lymphohistiocytosis 26
367 IMM228 Immunodeficiency 72 with Autoinflammation 21
368 c GM2001 Gm2 Gangliosidosis, 0 Variant 9
369 c ADL047 Adult Endodermal Sinus Tumor 8
370 c GM2002 Gm2-Gangliosidosis, B, B1, Ab Variant 6
371 P JBR020 Joubert Syndrome 1 74
372 c GLY008 Glycogen Storage Disease Ii 72
373 WLS001 Wilson Disease 70
374 P HPT021 Hepatitis 68
375 BRR014 Barrett Esophagus 66
376 c CNG411 Congenital Disorder of Glycosylation, Type in 66
377 P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65
378 c ATM011 Autoimmune Hepatitis 62
379 c GLY004 Glycogen Storage Disease V 62
380 PRM236 Primary Biliary Cholangitis 62
381 P HYP750 Hypertriglyceridemia, Familial 61
382 c HPT001 Hepatitis C 61
383 c GLY003 Glycogen Storage Disease Iii 60
384 P TRC086 Trichohepatoenteric Syndrome 1 59
385 c GLY005 Glycogen Storage Disease Vi 59
386 P GLY013 Glycogen Storage Disease 59
387 c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 58
388 c GLY007 Glycogen Storage Disease Iv 58
389 c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57
390 P CTR177 Citrullinemia, Type Ii, Adult-Onset 56
391 ALV002 Alveolar Echinococcosis 56
392 c TLN006 Telangiectasia, Hereditary Hemorrhagic, Type 1 56
393 c GLY011 Glycogen Storage Disease Vii 54
394 c GLC111 Galactosemia Ii 54
395 c JBR041 Joubert Syndrome 3 53
396 c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53
397 c MTC054 Mitochondrial Dna Depletion Syndrome 7 53
398 c JBR018 Joubert Syndrome 4 53
399 c CHL116 Cholestasis, Intrahepatic, of Pregnancy, 1 52
400 IGG001 Iga Glomerulonephritis 50
401 c JBR004 Joubert Syndrome 2 49
402 c JBR012 Joubert Syndrome 5 48
403 c SPN314 Spinocerebellar Ataxia 10 47
404 HPT025 Hepatic Lipase Deficiency 47
405 c SPN308 Spinocerebellar Ataxia 28 47
406 P OMP004 Omphalocele 47
407 c JBR011 Joubert Syndrome 7 46
408 c JBR014 Joubert Syndrome 9 46
409 c ZLL011 Zellweger Spectrum Disorder 45
410 c JBR015 Joubert Syndrome 6 45
411 c GLY098 Glycogen Storage Disease, Type Ixd 45
412 c JBR025 Joubert Syndrome 17 45
413 c JBR035 Joubert Syndrome 24 45
414 c JBR013 Joubert Syndrome 8 45
415 c DVL041 Developmental and Epileptic Encephalopathy 13 44
416 c PLY171 Polycystic Kidney Disease 3 with or Without Polycystic Liver Disease 44
417 c JBR016 Joubert Syndrome 10 44
418 c JBR026 Joubert Syndrome 15 43
419 c JBR031 Joubert Syndrome 21 43
420 c JBR028 Joubert Syndrome 13 43
421 c JBR024 Joubert Syndrome 14 43
422 c SPN265 Spinocerebellar Ataxia 36 42
423 BLD063 Bile Duct Cysts 42
424 P FRS004 Free Sialic Acid Storage Disorders 42
425 c CNG498 Congenital Disorder of Glycosylation, Type Iin 41
426 c TYR011 Tyrosinemia, Type Iii 41
427 c SPN288 Spinocerebellar Ataxia, Autosomal Recessive 4 40
428 c SPN097 Spinocerebellar Ataxia 23 40
429 CHL073 Cholestasis-Lymphedema Syndrome 40
430 c DVL035 Developmental and Epileptic Encephalopathy 4 40
431 c HYP555 Hypertriglyceridemia, Transient Infantile 39
432 c GLY009 Glycogen Storage Disease Xv 39
433 c CHL091 Cholestasis, Progressive Familial Intrahepatic, 5 39
434 c JBR042 Joubert Syndrome 23 38
435 P FML355 Familial Intrahepatic Cholestasis 38
436 c DVL055 Developmental and Epileptic Encephalopathy 29 38
437 c SPN258 Spinocerebellar Ataxia, Autosomal Recessive 13 38
438 GLY078 Glycogen Storage Disease Due to Glycogen Branching Enzyme Deficiency 38
439 c DVL059 Developmental and Epileptic Encephalopathy 33 36
440 c JBR022 Joubert Syndrome 20 36
441 c HYP713 Hypermanganesemia with Dystonia 2 35
442 c JBR030 Joubert Syndrome 22 35
443 c JBR037 Joubert Syndrome 26 34
444 c GLY057 Glycogen Storage Disease X 34
445 BLD019 Bile Duct Cystadenocarcinoma 34
446 c LVR030 Liver Failure, Infantile, Transient 34
447 c JBR036 Joubert Syndrome 25 32
448 c DVL046 Developmental and Epileptic Encephalopathy 18 31
449 c JBR045 Joubert Syndrome 33 31
450 c DVL054 Developmental and Epileptic Encephalopathy 28 31
451 c SPN427 Spinocerebellar Ataxia 48 31
452 c PRX046 Peroxisome Biogenesis Disorder 7a 30
453 c INF194 Infantile Liver Failure Syndrome 30
454 c GLY017 Glycogen Storage Disease Ic 30
455 c DVL103 Developmental and Epileptic Encephalopathy 80 30
456 CMB089 Combined Hepatocellular Carcinoma and Cholangiocarcinoma 29
457 c MTC143 Mitochondrial Dna Depletion Syndrome 12b 29
458 c PRX052 Peroxisome Biogenesis Disorder 13a 28
459 c PRX062 Peroxisome Biogenesis Disorder 8b 28
460 c JBR039 Joubert Syndrome 28 27
461 c PRX047 Peroxisome Biogenesis Disorder 5b 27
462 c JBR044 Joubert Syndrome 31 27
463 PTY007 Pityriasis Rotunda 27
464 c SPN420 Spinocerebellar Ataxia 46 27
465 PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 27
466 c GLY093 Glycogen Storage Disease Ixa 26
467 c GLY059 Glycogen Storage Disease Xiii 26
468 c JBR021 Joubert Syndrome 18 26
469 c JBR027 Joubert Syndrome 16 25
470 c GLY001 Glycogen Storage Disease Ix 25
471 c JBR040 Joubert Syndrome 30 25
472 c JBR043 Joubert Syndrome 32 24
473 c JBR047 Joubert Syndrome 35 23
474 c DVL106 Developmental and Epileptic Encephalopathy 83 22
475 c PLY177 Polycystic Kidney Disease 6 with or Without Polycystic Liver Disease 22
476 c JBR038 Joubert Syndrome 27 22
477 c JBR049 Joubert Syndrome 37 21
478 c JBR048 Joubert Syndrome 36 20
479 ATN023 Autoinflammation with Episodic Fever and Lymphadenopathy 20
480 c OMP009 Omphalocele, Autosomal 20
481 c ERY016 Erythropoietic Protoporphyria, Autosomal Recessive 19
482 TRK001 Triokinase and Fmn Cyclase Deficiency Syndrome 19
483 c INF047 Infantile Free Sialic Acid Storage Disease 17
484 c MTC014 Mitochondrial Dna Deletion Syndromes 16
485 SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 16
486 c CCH010 Coach Syndrome 2 15
487 PRM285 Primitive Portal Vein Thrombosis 14
488 SLT015 Solitary Necrotic Nodule of the Liver 12
489 SQM017 Squamous Cell Carcinoma of Liver and Intrahepatic Biliary Tract 10
490 CNG564 Congenital Respiratory-Biliary Fistula 9
491 BLR023 Biliary Atresia with Splenic Malformation Syndrome 9
492 c MLT169 Multiple Mitochondrial Dna Deletion Syndrome 9
493 FLL045 Follicular Cholangitis and Pancreatitis 8
494 PRM341 Primary Biliary Cholangitis/primary Sclerosing Cholangitis and Autoimmune Hepatitis Overlap Syndrome 8
495 UND010 Undifferentiated Carcinoma of Liver and Intrahepatic Biliary Tract 8
496 ADN087 Adenocarcinoma of the Liver and Intrahepatic Biliary Tract 6
497 c RRB009 Rare Biliary Tract Disease 5
498 CNG533 Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome 5
499 RRH033 Rare Hepatic and Biliary Tract Tumor 4
500 RRP029 Rare Parenchymal Liver Disease 4
501 ATR002 Atransferrinemia 50
502 P GLC113 Galactosemia I 65
503 c PLY168 Polycystic Kidney Disease 1 with or Without Polycystic Liver Disease 65
504 P HRD008 Hereditary Hemorrhagic Telangiectasia 64
505 LYS012 Lysosomal Acid Lipase Deficiency 64
506 c PRT132 Protoporphyria, Erythropoietic, 1 61
507 FBR086 Fibrolamellar Carcinoma 59
508 c HMC009 Hemochromatosis Type 2 58
509 DBN001 Dubin-Johnson Syndrome 58
510 VRG001 Variegate Porphyria 55
511 DRR016 Diarrhea 2, with Microvillus Atrophy 55
512 c SPN207 Spinocerebellar Ataxia, Autosomal Recessive 8 52
513 c MTC060 Mitochondrial Dna Depletion Syndrome 9 51
514 c MTC059 Mitochondrial Dna Depletion Syndrome 5 49
515 c BLC008 Bile Acid Synthesis Defect, Congenital, 2 49
516 c MTC061 Mitochondrial Dna Depletion Syndrome 1 49
517 P PRP056 Porphyria, Acute Hepatic 49
518 c SPN311 Spinocerebellar Ataxia 13 48
519 c MYL058 Myeloproliferative Syndrome, Transient 48
520 c MTC058 Mitochondrial Dna Depletion Syndrome 6 48
521 GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 48
522 c MCK031 Meckel Syndrome, Type 2 47
523 NDL013 Nodular Regenerative Hyperplasia 46
524 c SPN293 Spinocerebellar Ataxia 12 46
525 CRL004 Caroli Disease 46
526 c SPN201 Spinocerebellar Ataxia, Autosomal Recessive 7 45
527 KLT001 Klatskin's Tumor 45
528 c SPN305 Spinocerebellar Ataxia 11 45
529 c CHL118 Cholestasis, Benign Recurrent Intrahepatic, 2 44
530 HYP236 Hyperbilirubinemia, Rotor Type 44
531 MTC085 Mitochondrial Complex Iii Deficiency, Nuclear Type 1 44
532 HPT067 Hepatocellular Adenoma 42
533 c SPN214 Spinocerebellar Ataxia, Autosomal Recessive 10 42
534 c MTC065 Mitochondrial Dna Depletion Syndrome 8a 41
535 c GLY016 Glycogen Storage Disease Ib 41
536 c NPH077 Nephronophthisis 19 40
537 c DVL028 Developmental and Epileptic Encephalopathy 8 40
538 HPT077 Hepatic Venoocclusive Disease with Immunodeficiency 40
539 c DVL044 Developmental and Epileptic Encephalopathy 16 39
540 c DVL077 Developmental and Epileptic Encephalopathy 53 39
541 PRG008 Paragonimiasis 37
542 c PRX063 Peroxisome Biogenesis Disorder 2a 37
543 c SPN283 Spinocerebellar Ataxia 37 36
544 BLR028 Biliary Atresia, Extrahepatic 36
545 c DVL043 Developmental and Epileptic Encephalopathy 15 35
546 P 8P1002 8p11 Myeloproliferative Syndrome 35
547 c HYP716 Hypermanganesemia with Dystonia 1 34
548 c ALG016 Alagille Syndrome 2 34
549 c PRX050 Peroxisome Biogenesis Disorder 9b 34
550 HMC038 Hemochromatosis, Neonatal 33
551 c PRX054 Peroxisome Biogenesis Disorder 12a 33
552 c PRX065 Peroxisome Biogenesis Disorder 3a 32
553 UND001 Undifferentiated Embryonal Sarcoma of the Liver 31
554 c PRX043 Peroxisome Biogenesis Disorder 6b 31
555 MTC096 Mitchell-Riley Syndrome 31
556 c PRX048 Peroxisome Biogenesis Disorder 10a 31
557 c BLC016 Bile Acid Synthesis Defect, Congenital, 5 30
558 c FML324 Familial Porphyria Cutanea Tarda 29
559 c DVL062 Developmental and Epileptic Encephalopathy 35 29
560 c PRX091 Peroxisome Biogenesis Disorder 8a 28
561 c DVL114 Developmental and Epileptic Encephalopathy 91 27
562 c SPN431 Spinocerebellar Ataxia, Autosomal Recessive 27 27
563 c DVL064 Developmental and Epileptic Encephalopathy 38 26
564 c DVL080 Developmental and Epileptic Encephalopathy 56 26
565 c PRX056 Peroxisome Biogenesis Disorder 11b 26
566 c DVL097 Developmental and Epileptic Encephalopathy 73 25
567 P ATS324 Autosomal Erythropoietic Protoporphyria 25
568 c MTC182 Mitochondrial Dna Depletion Syndrome 16 25
569 c DVL102 Developmental and Epileptic Encephalopathy 79 24
570 c GLC115 Galactosemia Iv 23
571 c PRX089 Peroxisome Biogenesis Disorder 10b 21
572 c RJB004 Rajab Interstitial Lung Disease with Brain Calcifications 2 21
573 CRC045 Carcinoma of Gallbladder and Extrahepatic Biliary Tract 20
574 CRB163 Cerebellar Vermis Aplasia with Associated Features Suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome 19
575 P DSR081 Disorder of Bile Acid Synthesis 19
576 c PRT135 Protoporphyria, Erythropoietic, 2 18
577 IMM231 Immune Dysregulation and Systemic Hyperinflammation Syndrome 17
578 GLL034 Gallbladder Neuroendocrine Tumor 15
579 c CCH011 Coach Syndrome 3 13
580 c GLL026 Gallbladder Disease 3 13
581 c MYL070 Myeloproliferative Disease, Autosomal Recessive 11
582 LYM153 Lymphoplasmacytic Inflammatory Pseudotumor of the Liver 9
583 CRC044 Carcinoma of Liver and Intrahepatic Biliary Tract 9
584 RRM017 Rare Metabolic Liver Disease 7
585 ADN082 Adenocarcinoma of the Gallbladder and Extrahepatic Biliary Tract 7
586 c RRV010 Rare Vascular Liver Disease 6
587 RRT015 Rare Tumor of Gallbladder and Extrahepatic Biliary Tract 5
588 RRM018 Rare Malignant Epithelial Tumor of Liver and Intrahepatic Biliary Tract 4
589 P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 66
590 P ZLL001 Zellweger Syndrome 65
591 c ADL096 Adult Hepatocellular Carcinoma 60
592 P NPH005 Nephronophthisis 59
593 c ACT134 Acute Liver Failure 57
594 FRC011 Fructose Intolerance, Hereditary 55
595 P CCH009 Coach Syndrome 1 54
596 c MTC055 Mitochondrial Dna Depletion Syndrome 4b 54
597 c SPN294 Spinocerebellar Ataxia 1 53
598 c VRL010 Viral Hepatitis 52
599 c MTC063 Mitochondrial Dna Depletion Syndrome 3 51
600 IRN008 Iron Overload in Africa 50
601 MTH076 Methylmalonic Aciduria Due to Methylmalonyl-Coa Mutase Deficiency 50
602 c DVL038 Developmental and Epileptic Encephalopathy 7 48
603 c SPN304 Spinocerebellar Ataxia 8 47
604 c SPN325 Spinocerebellar Ataxia, Autosomal Recessive 20 47
605 c DVL118 Developmental and Epileptic Encephalopathy 94 45
606 CMB012 Combined Oxidative Phosphorylation Deficiency 1 44
607 HYP766 Hyperbilirubinemia, Transient Familial Neonatal 43
608 c CNG379 Congenital Disorder of Glycosylation, Type It 41
609 INT271 Interstitial Lung and Liver Disease 41
610 c SPN105 Spinocerebellar Ataxia 4 38
611 c MTC078 Mitochondrial Dna Depletion Syndrome 11 38
612 c SPN295 Spinocerebellar Ataxia, Autosomal Recessive 3 38
613 c CHL142 Cholestasis, Intrahepatic, of Pregnancy 3 38
614 c SPN264 Spinocerebellar Ataxia, Autosomal Recessive 12 37
615 P HPT020 Hepatic Vascular Disease 37
616 ICH026 Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis 36
617 P RNL059 Renal-Hepatic-Pancreatic Dysplasia 34
618 c PRX051 Peroxisome Biogenesis Disorder 6a 34
619 c PRX060 Peroxisome Biogenesis Disorder 5a 33
620 c CNG002 Congenital Bile Acid Synthesis Defect 33
621 HPT085 Hepatitis, Fulminant Viral 33
622 c DVL057 Developmental and Epileptic Encephalopathy 31 32
623 c MTC126 Mitochondrial Dna Depletion Syndrome 14 31
624 PRM205 Primary Hepatic Neuroendocrine Carcinoma 30
625 c DVL058 Developmental and Epileptic Encephalopathy 32 28
626 c DVL094 Developmental and Epileptic Encephalopathy 70 28
627 c DVL056 Developmental and Epileptic Encephalopathy 30 27
628 c DVL091 Developmental and Epileptic Encephalopathy 67 27
629 c MCK035 Meckel Syndrome, Type 10 26
630 c DVL072 Developmental and Epileptic Encephalopathy 47 26
631 c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 26
632 c DVL101 Developmental and Epileptic Encephalopathy 78 26
633 c TLN008 Telangiectasia, Hereditary Hemorrhagic, Type 5 25
634 c MCK036 Meckel Syndrome, Type 9 25
635 c DVL098 Developmental and Epileptic Encephalopathy 74 24
636 c MTC129 Mitochondrial Dna Depletion Syndrome 15 23
637 c MTC139 Mitochondrial Dna Depletion Syndrome 12a , Autosomal Dominant 23
638 c HYP873 Hypercholanemia, Familial, 2 23
639 c MTC204 Mitochondrial Dna Depletion Syndrome 18 21
640 c MTC213 Mitochondrial Dna Depletion Syndrome 19 21
641 IMM226 Immunodeficiency 69 20
642 c MTC200 Mitochondrial Dna Depletion Syndrome 17 20
643 c MTC142 Mitochondrial Dna Depletion Syndrome 12a 19
644 PLM145 Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome 13
645 P HPT023 Hepatocellular Carcinoma 95
646 CYS001 Cystic Fibrosis 77
647 CRB011 Cerebrotendinous Xanthomatosis 64
648 BDD001 Budd-Chiari Syndrome 62
649 PLY023 Polycystic Liver Disease 62
650 c TYR012 Tyrosinemia, Type I 61
651 P SPN301 Spinocerebellar Ataxia 2 59
652 c CNG415 Congenital Disorder of Glycosylation, Type Ia 58
653 c SPN309 Spinocerebellar Ataxia 6 58
654 c SPN101 Spinocerebellar Ataxia 29 58
655 CPR004 Coproporphyria, Hereditary 57
656 c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55
657 c GLL024 Gallbladder Disease 1 53
658 c PLY172 Polycystic Kidney Disease 2 with or Without Polycystic Liver Disease 53
659 P SHR001 Short Bowel Syndrome 53
660 NNT017 Neonatal Adrenoleukodystrophy 51
661 c DVL034 Developmental and Epileptic Encephalopathy 3 46
662 P DVL113 Developmental and Epileptic Encephalopathy 46
663 P MTC010 Mitochondrial Dna Depletion Syndrome 46
664 c MCK014 Meckel Syndrome, Type 5 46
665 c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45
666 c GLY097 Glycogen Storage Disease Ixb 44
667 c INF145 Infantile Liver Failure Syndrome 1 44
668 c MCK034 Meckel Syndrome, Type 8 43
669 c MTC088 Mitochondrial Dna Depletion Syndrome 13 43
670 c CNG413 Congenital Short Bowel Syndrome 42
671 c DVL039 Developmental and Epileptic Encephalopathy 11 41
672 c CNG198 Congenital Disorder of Glycosylation, Type Il 41
673 c CHL143 Cholestasis, Progressive Familial Intrahepatic, 4 41
674 DFN270 Deafness, Dystonia, and Cerebral Hypomyelination 40
675 P SCH017 Schindler Disease 37
676 c SCH069 Schindler Disease, Type I 37
677 c CNG200 Congenital Disorder of Glycosylation, Type Iq 37
678 c DVL061 Developmental and Epileptic Encephalopathy 34 36
679 c PRX055 Peroxisome Biogenesis Disorder 11a 36
680 c SPN102 Spinocerebellar Ataxia 30 35
681 c SPN200 Spinocerebellar Ataxia, Autosomal Recessive 2 34
682 c RNL092 Renal-Hepatic-Pancreatic Dysplasia 1 33
683 c SPN095 Spinocerebellar Ataxia 19 33
684 P HYP872 Hypercholanemia, Familial 1 32
685 c DVL053 Developmental and Epileptic Encephalopathy 27 31
686 c DVL090 Developmental and Epileptic Encephalopathy 66 30
687 c SPN298 Spinocerebellar Ataxia, Autosomal Recessive 17 29
688 c SPN313 Spinocerebellar Ataxia, Autosomal Recessive 6 28
689 PRT094 Protoporphyria, Erythropoietic, X-Linked 28
690 c GLY023 Glycogen Storage Disease Type 0 27
691 c DVL089 Developmental and Epileptic Encephalopathy 65 27
692 c DVL115 Developmental and Epileptic Encephalopathy 92 26
693 c RNL095 Renal-Hepatic-Pancreatic Dysplasia 2 26
694 c DVL073 Developmental and Epileptic Encephalopathy 48 26
695 c DVL081 Developmental and Epileptic Encephalopathy 57 25
696 c DVL074 Developmental and Epileptic Encephalopathy 49 25
697 c DVL109 Developmental and Epileptic Encephalopathy 87 25
698 c DVL083 Developmental and Epileptic Encephalopathy 59 25
699 HYP481 Hyperbiliverdinemia 25
700 c DVL070 Developmental and Epileptic Encephalopathy 45 25
701 c DVL105 Developmental and Epileptic Encephalopathy 82 24
702 c DVL085 Developmental and Epileptic Encephalopathy 61 23
703 c DVL065 Developmental and Epileptic Encephalopathy 40 23
704 c SPN107 Spinocerebellar Ataxia 9 16
705 c CHR471 Chronic Hepatic Porphyria 15
706 c SCN046 Secondary Short Bowel Syndrome 14
707 c GRD008 Grid2-Related Spinocerebellar Ataxia 7
708 c PRM318 Primary Short Bowel Syndrome 6
709 P OST001 Osteopetrosis 70
710 P MCK013 Meckel Syndrome, Type 1 64
711 PRP083 Porphyria, Acute Intermittent 64
712 P GLL020 Gallbladder Disease 57
713 PYR041 Pyruvate Kinase Deficiency of Red Cells 56
714 c OST163 Osteopetrosis, Autosomal Recessive 3 54
715 FNC009 Fanconi-Bickel Syndrome 53
716 c OST131 Osteopetrosis, Autosomal Dominant 2 52
717 c OST126 Osteopetrosis, Autosomal Recessive 1 51
718 c OST136 Osteopetrosis, Autosomal Recessive 7 50
719 c OST120 Osteopetrosis, Autosomal Recessive 5 50
720 c SPN291 Spinocerebellar Ataxia 7 50
721 c DVL033 Developmental and Epileptic Encephalopathy 1 50
722 c MCK032 Meckel Syndrome, Type 3 49
723 c CNG194 Congenital Disorder of Glycosylation, Type Ig 49
724 c SPN106 Spinocerebellar Ataxia 5 49
725 GRC001 Gracile Syndrome 48
726 c CNG193 Congenital Disorder of Glycosylation, Type Ip 46
727 c PSD106 Pseudo-Torch Syndrome 1 46
728 c ATS282 Autosomal Recessive Malignant Osteopetrosis 45
729 c DVL037 Developmental and Epileptic Encephalopathy 5 45
730 c TLN011 Telangiectasia, Hereditary Hemorrhagic, Type 2 45
731 c OST137 Osteopetrosis, Autosomal Recessive 4 45
732 c OST134 Osteopetrosis, Autosomal Recessive 6 45
733 c CNG414 Congenital Disorder of Glycosylation, Type Iil 44
734 c OST129 Osteopetrosis, Autosomal Recessive 2 44
735 c SPN261 Spinocerebellar Ataxia, Autosomal Recessive 14 43
736 c SPN290 Spinocerebellar Ataxia 15 42
737 c OST106 Osteopetrosis, Autosomal Recessive 8 42
738 c CNG197 Congenital Disorder of Glycosylation, Type Ih 41
739 c SPN284 Spinocerebellar Ataxia 38 40
740 c CNG187 Congenital Disorder of Glycosylation, Type Iid 40
741 c DVL049 Developmental and Epileptic Encephalopathy 23 39
742 c DVL036 Developmental and Epileptic Encephalopathy 39 39
743 c SPN103 Spinocerebellar Ataxia 31 39
744 c GLY044 Glycogen Storage Disease Ixc 37
745 c DVL040 Developmental and Epileptic Encephalopathy 12 37
746 c DVL050 Developmental and Epileptic Encephalopathy 24 37
747 c SPN419 Spinocerebellar Ataxia 45 36
748 c SPN377 Spinocerebellar Ataxia, Autosomal Recessive 23 36
749 c CNG205 Congenital Disorder of Glycosylation, Type Ij 36
750 MCR257 Microcephaly, Amish Type 35
751 c GLY006 Glycogen Storage Disease Viii 34
752 c OST125 Osteopetrosis, Autosomal Dominant 1 34
753 c SPN299 Spinocerebellar Ataxia 20 33
754 c PRX057 Peroxisome Biogenesis Disorder 4a 33
755 c SPN099 Spinocerebellar Ataxia 26 33
756 c DVL069 Developmental and Epileptic Encephalopathy 44 31
757 c DVL078 Developmental and Epileptic Encephalopathy 54 27
758 c SPN421 Spinocerebellar Ataxia 47 27
759 c PSD107 Pseudo-Torch Syndrome 2 27
760 c DVL088 Developmental and Epileptic Encephalopathy 64 27
761 c DVL076 Developmental and Epileptic Encephalopathy 52 27
762 c SPN372 Spinocerebellar Ataxia 43 26
763 c DVL068 Developmental and Epileptic Encephalopathy 43 26
764 c DVL093 Developmental and Epileptic Encephalopathy 69 25
765 c DVL092 Developmental and Epileptic Encephalopathy 68 25
766 c DVL075 Developmental and Epileptic Encephalopathy 51 25
767 c DVL107 Developmental and Epileptic Encephalopathy 84 25
768 c MCK028 Meckel Syndrome 13 25
769 c DVL086 Developmental and Epileptic Encephalopathy 62 25
770 c SPN323 Spinocerebellar Ataxia 41 25
771 c DVL112 Developmental and Epileptic Encephalopathy 89 24
772 P TRC034 Torch Syndrome 24
773 c DVL104 Developmental and Epileptic Encephalopathy 81 24
774 c PSD121 Pseudo-Torch Syndrome 3 23
775 c DVL096 Developmental and Epileptic Encephalopathy 72 23
776 c OST171 Osteopetrosis, Autosomal Dominant 3 22
777 c DVL110 Developmental and Epileptic Encephalopathy 88 21
778 c CLC009 Clcn7-Related Osteopetrosis 15
779 c HPT073 Hepatitis C Virus 70
780 P PRP003 Porphyria Cutanea Tarda 66
781 c PRG047 Progressive Familial Intrahepatic Cholestasis 64
782 LNG073 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 58
783 c GLC112 Galactosemia Iii 51
784 P TYR004 Tyrosinemia 49
785 c MCK030 Meckel Syndrome, Type 7 49
786 RYN003 Reynolds Syndrome 46
787 c CNG204 Congenital Disorder of Glycosylation, Type Iih 45
788 c SPN100 Spinocerebellar Ataxia 27 41
789 c SPN266 Spinocerebellar Ataxia 35 40
790 c DVL045 Developmental and Epileptic Encephalopathy 17 35
791 c SPN376 Spinocerebellar Ataxia, Autosomal Recessive 24 34
792 c SPN383 Spinocerebellar Ataxia 42 33
793 c SPN272 Spinocerebellar Ataxia, Autosomal Recessive 15 30
794 c DVL063 Developmental and Epileptic Encephalopathy 37 29
795 c DVL099 Developmental and Epileptic Encephalopathy 75 27
796 c SPN286 Spinocerebellar Ataxia 40 27
797 c DVL066 Developmental and Epileptic Encephalopathy 41 26
798 c DVL047 Developmental and Epileptic Encephalopathy 19 26
799 c DVL079 Developmental and Epileptic Encephalopathy 55 26
800 c DVL084 Developmental and Epileptic Encephalopathy 60 24
801 c SPN384 Spinocerebellar Ataxia, Autosomal Recessive 26 24
802 c SPN440 Spinocerebellar Ataxia, Autosomal Recessive 28 23
803 c DVL108 Developmental and Epileptic Encephalopathy 86 20
804 c TLN009 Telangiectasia, Hereditary Hemorrhagic, Type 3 18
805 c DVL032 Developmental and Epileptic Encephalopathy 90 17
806 c DVL042 Developmental and Epileptic Encephalopathy 14 53
807 c SPN296 Spinocerebellar Ataxia 17 48
808 c DVL027 Developmental and Epileptic Encephalopathy 9 47
809 c CNG383 Congenital Disorder of Glycosylation, Type Iik 43
810 c SPN104 Spinocerebellar Ataxia 34 41
811 c DVL030 Developmental and Epileptic Encephalopathy 36 40
812 c SPN096 Spinocerebellar Ataxia 21 40
813 c SPN381 Spinocerebellar Ataxia, Autosomal Recessive 21 38
814 c DVL100 Developmental and Epileptic Encephalopathy 76 33
815 c MCK026 Meckel Syndrome 12 25
816 c DVL095 Developmental and Epileptic Encephalopathy 71 24
817 c HPT003 Hepatitis a 63
818 c CNG201 Congenital Disorder of Glycosylation, Type Iij 43
819 c CNG497 Congenital Disorder of Glycosylation, Type Iio 40
820 c CNG378 Congenital Disorder of Glycosylation, Type Ir 28
821 c TLN010 Telangiectasia, Hereditary Hemorrhagic, Type 4 21
822 c TYR013 Tyrosinemia, Type Ii 48
823 c CNG209 Congenital Disorder of Glycosylation, Type Iif 43
824 c CNG504 Congenital Disorder of Glycosylation, Type Iip 38
825 c CNG192 Congenital Disorder of Glycosylation, Type Ik 37
826 c CNG615 Congenital Disorder of Glycosylation, Type Iir 23
827 P DSR041 Disorder of Multiple Glycosylation 7
828 c CNG386 Congenital Disorder of Glycosylation, Type Iu 35
829 IMM140 Immunodeficiency 47 56
830 c CNG206 Congenital Disorder of Glycosylation, Type Ie 51
831 c CNG191 Congenital Disorder of Glycosylation, Type Iia 50
832 c CNG389 Congenital Disorder of Glycosylation, Type Iim 49
833 c CNG203 Congenital Disorder of Glycosylation, Type Iii 49
834 c CNG208 Congenital Disorder of Glycosylation, Type Iic 47
835 c CNG190 Congenital Disorder of Glycosylation, Type Iib 45
836 c CNG199 Congenital Disorder of Glycosylation, Type Im 44
837 c CNG185 Congenital Disorder of Glycosylation, Type Iig 44
838 c CNG189 Congenital Disorder of Glycosylation, Type Ib 40
839 c CNG196 Congenital Disorder of Glycosylation, Type Ic 40
840 c CNG195 Congenital Disorder of Glycosylation, Type Id 37
841 c CNG188 Congenital Disorder of Glycosylation, Type if 37
842 c CNG403 Congenital Disorder of Glycosylation, Type Ix 32
843 c CNG388 Congenital Disorder of Glycosylation, Type Iw 30
844 c CNG617 Congenital Disorder of Glycosylation, Type Iit 26
845 c CNG507 Congenital Disorder of Glycosylation, Type I/iix 22



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