| 疾病名称 |
别名 |
|
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
PFIC1
|
Byler Disease
|
|
Cholestasis, Progressive Familial Intrahepatic 1
|
Progressive Familial Intrahepatic Cholestasis 1
|
|
Progressive Familial Intrahepatic Cholestasis Type 1
|
Fic1 Deficiency
|
|
Byler'S Disease
|
Cholestasis, Fatal Intrahepatic
|
|
Progressive Familial Intrahepatic Cholestasis
|
Severe Atp8b1 Deficiency
|
|
Fatal Intrahepatic Cholestasis
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 1
|
|
Progressive Intrahepatic Cholestasis
|
Cholestasis, Progressive Familial Intrahepatic 3
|
|
|
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Benign Recurrent Intrahepatic Cholestasis
|
BRIC1
|
|
Summerskill Syndrome
|
Bric
|
|
Summerskill-Walshe-Tygstrup Syndrome
|
Cholestasis, Benign Recurrent Intrahepatic
|
|
Benign Recurrent Intrahepatic Cholestasis 1
|
Benign Recurrent Intrahepatic Cholestasis Type 1
|
|
Bric Type 1
|
Low Gamma-Gt Familial Intrahepatic Cholestasis
|
|
Recurrent Familial Intrahepatic Cholestasis
|
Cholestasis, Benign Recurrent Intrahepatic 1
|
|
Mild Atp8b1 Deficiency
|
Recurrent Familial Intrahepatic Cholestasis 1
|
|
Abcb11-Related Intrahepatic Cholestasis
|
Atp8b1-Related Intrahepatic Cholestasis
|
|
Cholestasis, Intrahepatic, Recurrent, Benign, Type 1
|
Progressive Intrahepatic Cholestasis
|
|
Cholestasis, Progressive Familial Intrahepatic 3
|
Bric - [Benign Recurrent Intrahepatic Cholestasis]
|
|
|
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
ICP1
|
Intrahepatic Cholestasis Of Pregnancy 1
|
|
Cholestasis, Pregnancy-Related, 1
|
Pregnancy Related Cholestasis 1
|
|
Cholestasis Of Pregnancy, Intrahepatic 1
|
Obstetric Cholestasis
|
|
Pregnancy-Related Cholestasis
|
Recurrent Intrahepatic Cholestasis Of Pregnancy
|
|
Cholestasis, Intrahepatic, Of Pregnancy, Type 1
|
Cholestasis Of Pregnancy
|
|
|
| Progressive Familial Intrahepatic Cholestasis |
|
Abcb4-Related Intrahepatic Cholestasis
|
Cholestasis, Progressive Familial Intrahepatic
|
|
Pfic
|
Byler Disease
|
|
Abcb11-Related Intrahepatic Cholestasis
|
Atp8b1-Related Intrahepatic Cholestasis
|
|
Bsep Deficiency
|
Byler Disease
|
|
Byler Syndrome
|
Fic1 Deficiency
|
|
Low Γ-Gt Familial Intrahepatic Cholestasis
|
Mdr3 Deficiency
|
|
Pfic
|
Cholestasis, Intrahepatic, Familial, Progressive
|
|
Pfic - [Progressive Familial Intrahepatic Cholestasis]
|
|
|
| Cholestasis |
|
Obstruction Of Bile Duct
|
Bile Duct Obstruction
|
|
Bile Occlusion
|
Extrahepatic Biliary Obstruction
|
|
Extrahepatic Bile Duct Obstruction
|
Bile Stasis
|
|
Biliary Stasis
|
Obstructive Hyperbilirubinemia
|
|
Obstructed Jaundice
|
Bile Duct Obstructed
|
|
Bile Ductal Obstruction
|
Biliary Duct Obstruction
|
|
Obstructed Bile Ductal
|
Obstructed Biliary Duct
|
|
Obstructed Biliary Ductal
|
Jaundice Regurgitation
|
|
Obstructive Jaundice
|
Cholestatic Jaundice
|
|
Cholestatic Jaundice Syndrome
|
|
|
| Intrahepatic Cholestasis |
|
Cholestasis, Intrahepatic
|
Neonatal Intrahepatic Cholestasis
|
|
Cholestasis Intrahepatic
|
Cholestasis Of Pregnancy
|
|
|
| Familial Intrahepatic Cholestasis |
|
|
| Intrahepatic Cholestasis Of Pregnancy |
|
Recurrent Intrahepatic Cholestasis Of Pregnancy
|
Gravidic Intrahepatic Cholestasis
|
|
Pregnancy-Related Cholestasis
|
Icp
|
|
Pregnancy Related Cholestasis
|
Cholestasis, Intrahepatic Of Pregnancy
|
|
Familial Intrahepatic Cholestasis Of Pregnancy
|
Familial Recurrent Intrahepatic Cholestasis Of Pregnancy
|
|
Ricp
|
Obstetric Cholestasis
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
PFIC2
|
Cholestasis, Progressive Familial Intrahepatic 2
|
|
Progressive Familial Intrahepatic Cholestasis Type 2
|
Progressive Familial Intrahepatic Cholestasis 2
|
|
Bsep Deficiency
|
Recurrent Familial Intrahepatic Cholestasis 2
|
|
Benign Recurrent Intrahepatic Cholestasis 2
|
Severe Abcb11 Deficiency
|
|
Bric2
|
Cholestasis, Benign Recurrent Intrahepatic 2
|
|
Mild Abcb11 Deficiency
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 2
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
PFIC3
|
Cholestasis, Progressive Familial Intrahepatic 3
|
|
Mdr3 Deficiency
|
Progressive Familial Intrahepatic Cholestasis Type 3
|
|
Progressive Familial Intrahepatic Cholestasis 3
|
Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase
|
|
Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase
|
Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase
|
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 3
|
|
|
| Atp8b1 Deficiency |
|
Fic1 Deficiency
|
Progressive Intrahepatic Cholestasis
|
|
|
| Alagille Syndrome 1 |
|
Alagille Syndrome
|
Arteriohepatic Dysplasia
|
|
Alagille-Watson Syndrome
|
Cholestasis With Peripheral Pulmonary Stenosis
|
|
Hepatic Ductular Hypoplasia
|
Alagille Syndrome Due To A Jag1 Point Mutation
|
|
ALGS1
|
Algs
|
|
Aws
|
Syndromic Bile Duct Paucity
|
|
Cardiovertebral Syndrome
|
Hepatofacioneurocardiovertebral Syndrome
|
|
Paucity Of Interlobular Bile Ducts
|
Watson-Miller Syndrome
|
|
Alagille Syndrome Due To 20p12 Microdeletion
|
Ahd
|
|
Hepatic Ductular Hypoplasia, Syndromatic
|
Watson Alagille Syndrome
|
|
Alagille'S Syndrome
|
Alagille Syndrome Due To Del(20)(P12)
|
|
Alagille Syndrome Due To Monosomy 20p12
|
Alagille-Watson Syndrome Due To Monosomy 20p12
|
|
Arteriohepatic Dysplasia Due To Monosomy 20p12
|
Syndromic Bile Duct Paucity Due To Monosomy 20p12
|
|
Alagille-Watson Syndrome Due To A Jag1 Point Mutation
|
Arteriohepatic Dysplasia Due To A Jag1 Point Mutation
|
|
Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation
|
Alagille Syndrome, Type 1
|
|
|
| Liver Disease |
|
Liver Failure
|
Liver Diseases
|
|
Abnormality Of The Liver
|
Liver Dysfunction
|
|
Disorder Of Liver
|
Hepatic Disorder
|
|
Hepatic Disease
|
Disease Of Bilirubin Metabolism
|
|
Disorder Of Bilirubin Metabolism
|
Liver Decompensation
|
|
Liver Function Failure
|
Hepatic Failure Nos
|
|
Liver Failure Nos
|
End Stage Liver Disease
|
|
Decompensated Liver Failure
|
Decompensation Of Liver Function
|
|
Hepatic Decompensation
|
Hepatic Insufficiency
|
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Liver Cell Necrosis With Hepatic Failure
|
Liver Insufficiency
|
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Decompensated Liver Disease
|
End Stage Liver Failure
|
|
Liver Necrosis With Hepatic Failure
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
PFIC4
|
Progressive Familial Intrahepatic Cholestasis 4
|
|
Cholestasis, Progressive Familial Intrahepatic 4
|
Tjp2 Deficit
|
|
Progressive Familial Intrahepatic Cholestasis-4
|
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
|
|
Progressive Familial Intrahepatic Cholestasis Type 4
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 4
|
|
Bile Acid Synthesis Defect, Congenital, 1
|
|
|
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
BRIC2
|
Benign Recurrent Intrahepatic Cholestasis 2
|
|
Benign Recurrent Intrahepatic Cholestasis Type 2
|
Bric Type 2
|
|
Cholestasis, Intrahepatic, Recurrent, Benign, Type 2
|
Cholestasis, Benign Recurrent Intrahepatic 2
|
|
|
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
PFIC5
|
Progressive Familial Intrahepatic Cholestasis 5
|
|
Nr1h4 Deficiency
|
Progressive Familial Intrahepatic Cholestasis Type 5
|
|
Cholestasis, Intrahepatic, Familial, Progressive, Type 5
|
|
|
| Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
ICP3
|
Cholestasis, Intrahepatic, Of Pregnancy, 3
|
|
Intrahepatic Cholestasis Of Pregnancy 3
|
Pregnancy Related Cholestasis 3
|
|
Cholestasis Of Pregnancy, Intrahepatic 3
|
Cholestasis, Intrahepatic, Of Pregnancy, Type 3
|
|
|
| Dubin-Johnson Syndrome |
|
DJS
|
Chronic Idiopathic Jaundice
|
|
Jaundice, Chronic Idiopathic
|
Hyperbilirubinemia, Dubin-Johnson Type
|
|
Hyperbilirubinemia Ii
|
Hyperbilirubinemia Type 2
|
|
Conjugated Hyperbilirubinemia
|
Dubin-Sprinz Disease
|
|
Sprinz-Nelson Syndrome
|
Hblrdj
|
|
Dubin Johnson Syndrome
|
Hyperbilirubinemia 2
|
|
Black Liver-Jaundice Syndrome
|
Chronic Idiopathic Jaundice With Pigmented Liver
|
|
Dubin-Sprinz Syndrome
|
Hyperbilirubinaemia Type 2
|
|
Djs - [Dubin-Johnson Syndrome]
|
|
|
| Bile Duct Cysts |
|
Choledochal Cyst
|
Choledochal Cysts
|
|
Choledochocele
|
Biliary Cyst
|
|
Congenital Choledochal Cyst
|
Bile Duct Cyst
|
|
Congenital Cystic Dilatation Of The Biliary Tract
|
Congenital Bile Duct Dilatation
|
|
|
| Bile Duct Disease |
|
Bile Duct Diseases
|
Bile Duct Disorder
|
|
Disorder Of Bile Duct
|
|
|
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysequilibrium Syndrome
|
CAMRQ1
|
|
Des
|
Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1
|
|
Cerebellar Hypoplasia, Vldlr-Associated
|
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1
|
|
Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome
|
Uner Tan Syndrome
|
|
Vldlr Cerebellar Hypoplasia
|
Vldlrch
|
|
Vldlr-Associated Cerebellar Hypoplasia
|
Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1
|
|
Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive
|
Camrq
|
|
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1
|
Cerebellar Disorder, Nonprogressive, With Intellectual Disability
|
|
Cerebellar Hypoplasia, Vldlr Associated
|
Autosomal Recessive Cerebellar Ataxia With Mental Retardation
|
|
Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification
|
Cerebellar Disorder, Nonprogressive, With Mental Retardation
|
|
Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion
|
Chmrq1
|
|
Des-Vldlr
|
Dysequilibrium Syndrome-Vldlr
|
|
Vldlr-Ch
|
Camrq Syndrome
|
|
Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome
|
Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome
|
|
Uts
|
Cerebellar Hypoplasia Vldlr-Associated
|
|
Dialysis Disequilibrium Syndrome
|
|
|
| Biliary Tract Disease |
|
Biliary Tract Diseases
|
Biliary Tract Abnormality
|
|
|
| Splenic Artery Aneurysm |
|
Aneurysm Of Splenic Artery
|
|
|
| Citrullinemia, Type Ii, Adult-Onset |
|
Citrin Deficiency
|
CTLN2
|
|
Citrullinemia Type Ii
|
Adult-Onset Citrullinemia Type 2
|
|
Adult-Onset Type Ii Citrullinemia
|
Citrullinemia, Adult-Onset Type Ii
|
|
Adult-Onset Citrin Deficiency
|
Adult-Onset Citrullinemia Type Ii
|
|
Citrullinemia Type 2
|
Citrullinemia 2
|
|
Citrullinemia, Type Ii
|
|
|
| Bilirubin Metabolic Disorder |
|
Hyperbilirubinemia
|
Hereditary Hyperbilirubinemia
|
|
Hyperbilirubinemia, Hereditary
|
Hyperbilirubinaemia
|
|
|
| Citrullinemia, Classic |
|
Citrullinemia
|
Classic Citrullinemia
|
|
Argininosuccinate Synthetase Deficiency
|
Ass Deficiency
|
|
Citrullinemia Type I
|
CTLN1
|
|
Citrullinuria
|
Citrullinemia, Type I
|
|
Argininosuccinic Acid Synthetase Deficiency
|
Ctnl1
|
|
Citrullinemia 1
|
Deficiency Of Citrulline-Aspartate Ligase
|
|
Cit
|
Argininosuccinate Synthase Deficiency
|
|
Argininosuccinic Acid Synthase Deficiency
|
Citrullinemia Type 1
|
|
Citrullinemia Classical
|
|
|
| Urea Cycle Disorder |
|
Urea Cycle Disorders
|
Urea Cycle Disorders, Inborn
|
|
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Disorder Of Urea Cycle Metabolism
|
|
Urea Cycle Defect
|
Ucd
|
|
Disorder Of The Urea Cycle Metabolism
|
Disorder Of Urea Cycle
|
|
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia
|
Ammonia Metabolic Disorder
|
|
|
| Sitosterolemia |
|
Phytosterolemia
|
Beta-Sitosterolemia
|
|
Plant Sterol Storage Disease
|
Phytosterolæmia
|
|
Sitosterolæmia
|
Retention Of Dietary Cholesterol And Abnormal Retention Of Non-Cholesterol Sterols In The Body
|
|
Phytosterolaemia
|
Sitosterolaemia
|
|
Sitosterolemia With Xanthomatosis
|
|
|
| Microvillus Inclusion Disease |
|
Congenital Microvillous Atrophy
|
Intractable Diarrhea Of Infancy
|
|
Congenital Familial Protracted Diarrhea With Enterocyte Brush-Border Abnormalities
|
Davidson Disease
|
|
Microvillous Inclusion Disease
|
Congenital Microvillus Atrophy
|
|
Mvid
|
Diarrhea 2 With Microvillus Atrophy
|
|
Mvd
|
Congenital Familial Protracted Diarrhea
|
|
Davidson'S Disease
|
Familial Enteropathy, Microvillus
|
|
Microvillus Atrophy, Congenital
|
Congenital Enteropathy
|
|
Familial Protracted Enteropathy
|
Microvillous Atrophy
|
|
Microvillus Atrophy With Diarrhea 2
|
Idi
|
|
|
| Cystic Fibrosis |
|
Mucoviscidosis
|
CF
|
|
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis
|
Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
|
|
Cystic Fibrosis Lung Disease, Modifier Of
|
Cystic Fibrosis Of Pancreas
|
|
Fibrocystic Disease Of Pancreas
|
Cf - [Cystic Fibrosis]
|
|
Cystic Fibrosis Nos
|
Fibrocystic Disease
|
|
Fibrocystic Disease Of The Pancreas
|
Mucoviscidosis Of Pancreas
|
|
Nonproliferative Fibrocystic Disease
|
Pancreatic Cystic Fibrosis
|
|
|
| Cholangitis, Primary Sclerosing |
|
Primary Sclerosing Cholangitis
|
PSC
|
|
Sclerosing Cholangitis
|
Cholangitis, Sclerosing
|
|
Cholangitis Primary Sclerosing
|
Psc - [Primary Sclerosing Cholangitis]
|
|
|
| Diamond-Blackfan Anemia 1 |
|
Aase Syndrome
|
DBA1
|
|
Erythrogenesis Imperfecta
|
Aase-Smith Syndrome Ii
|
|
Dba
|
Blackfan-Diamond Syndrome
|
|
Bds
|
Anemia, Congenital Hypoplastic, Of Blackfan And Diamond
|
|
Anemia, Congenital Erythroid Hypoplastic
|
Red Cell Aplasia, Pure, Hereditary
|
|
Aregenerative Anemia, Chronic Congenital
|
Rps19-Related Diamond-Blackfan Anemia
|
|
Chronic Congenital Aregenerative Anemia
|
Congenital Erythroid Hypoplastic Anemia
|
|
Congenital Hypoplastic Anemia Of Blackfan And Diamond
|
Pure Hereditary Red Cell Aplasia
|
|
Anemia, Diamond-Blackfan, Type 1
|
Anemia, Diamond-Blackfan
|
|
Aase Smith Syndrome 2
|
Familial Hypoplastic Anaemia With Malformations
|
|
Constitutional Pure Red Cell Aplasia
|
|
|
| Primary Biliary Cholangitis |
|
Primary Biliary Cirrhosis
|
Biliary Liver Cirrhosis
|
|
Chronic Nonsuppurative Destructive Cholangitis
|
Familial Primary Biliary Cirrhosis
|
|
Pbc
|
Hanot Syndrome
|
|
Cholestatic Cirrhosis
|
Biliary Cirrhosis Primary
|
|
Liver Cirrhosis, Biliary
|
Hanot'S Cirrhosis
|
|
Biliary Cirrhosis
|
Pericholangiolic Biliary Cirrhosis
|
|
Tannhauser-Magendantz Syndrome
|
Hanot-Rossle Syndrome
|
|
Hypertrophic Cirrhosis
|
Todd Cirrhosis
|
|
Hanot Cirrhosis
|
Charcot Cirrhosis
|
|
Mahon-Tannhauser Syndrome
|
Toxic Cirrhosis
|
|
Hypertrophic Biliary Cirrhosis
|
Monolobular Cirrhosis
|
|
Unilobar Cirrhosis
|
Xanthomatous Biliary Cirrhosis
|
|
|
