| 疾病名称 |
别名 |
|
| Tyrosinemia, Type I |
|
Tyrosinemia Type I
|
Hepatorenal Tyrosinemia
|
|
Fumarylacetoacetase Deficiency
|
Fah Deficiency
|
|
TYRSN1
|
Fumarylacetoacetate Hydrolase Deficiency
|
|
Tyrosinemia Type 1
|
Tyrosinemia 1
|
|
Fumarylacetoacetase
|
|
|
| Tyrosinemia |
|
Hypertyrosinemia
|
Tyrosinemias
|
|
Hereditary Tyrosinemia
|
Hypertyrosinaemia
|
|
Tyrosinaemia
|
Hereditary Hypertyrosinemia
|
|
|
| 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
|
|
Liver Cell Necrosis With Hepatic Failure
|
Liver Insufficiency
|
|
Decompensated Liver Disease
|
End Stage Liver Failure
|
|
Liver Necrosis With Hepatic Failure
|
|
|
| Tyrosinemia, Type Ii |
|
Tyrosinemia Type Ii
|
Oculocutaneous Tyrosinemia
|
|
Richner-Hanhart Syndrome
|
Tyrosine Aminotransferase Deficiency
|
|
Tat Deficiency
|
Tyrosine Transaminase Deficiency
|
|
Keratosis Palmoplantaris With Corneal Dystrophy
|
TYRSN2
|
|
Oregon Type Tyrosinemia
|
Tyrosinemia Type 2
|
|
Tyrosinosis Oculocutaneous Type
|
Tyrosinosis, Oculocutaneous Type
|
|
Richner Hanhart Syndrome
|
Keratosis Palmoplantaris-Corneal Dystrophy Syndrome
|
|
Tyrosinemia Due To Tat Deficiency
|
Tyrosinemia Due To Tyrosine Aminotransferase Deficiency
|
|
Tyrosinemia 2
|
Tyrosinemia Oregon Type
|
|
Tyrosine Transaminase Deficiency Disease
|
|
|
| Alkaptonuria |
|
Homogentisic Acid Oxidase Deficiency
|
Alcaptonuria
|
|
AKU
|
Deficiency Of Homogentisicase
|
|
Homogentisate 1,2-Dioxygenase Deficiency
|
Alkaptonuric Ochronosis
|
|
Homogentisic Acidura
|
Ochronosis, Hereditary
|
|
Hereditary Ochronosis
|
Ochronosis
|
|
Homogentisicaciduria
|
Deficiency Of Homogentisate Oxygenase
|
|
|
| Tyrosinemia, Type Iii |
|
Tyrosinemia Type Iii
|
4-Hydroxyphenylpyruvate Dioxygenase Deficiency
|
|
TYRSN3
|
4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
|
|
Tyrosinemia Type 3
|
4-Alpha Hydroxyphenylpyruvate Dioxygenase Deficiency
|
|
4-Alpha Hydroxyphenylpyruvic Acid Oxidase Deficiency
|
Tyrosinemia Due To 4-Hydroxyphenylpyruvate Dioxygenase Deficiency
|
|
Tyrosinemia Due To 4-Hydroxyphenylpyruvic Acid Oxidase Deficiency
|
Tyrosinemia Due To Hpd Deficiency
|
|
Tyrosinemia 3
|
|
|
| Rickets |
|
Vitamin D Deficiency
|
Vitamin D
|
|
Active Rickets
|
Hypovitaminosis D
|
|
Nutritional Rickets
|
Vitamin D Deficiency Disease
|
|
Vitamin-D Deficiency Rickets
|
Vitamin D-Dependent Rickets
|
|
Avitaminosis D
|
Infantile Osteomalacia
|
|
Juvenile Osteomalacia
|
|
|
| Hawkinsinuria |
|
4-Alpha-Hydroxyphenylpyruvate Hydroxylase Deficiency
|
4-Hppd Deficiency
|
|
4-Hydroxyphenylpyruvic Acid Dioxygenase Deficiency
|
HWKS
|
|
HAWK
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Fanconi-Like Syndrome |
|
|
| Hepatocellular Carcinoma |
|
Liver Cancer
|
Primary Liver Cancer
|
|
HCC
|
Hepatoma
|
|
Malignant Neoplasm Of Liver
|
Liver Neoplasms
|
|
Cancer, Hepatocellular
|
Liver Cell Carcinoma
|
|
Lcc
|
Hepatoblastoma, Somatic
|
|
Hepatic Cancer
|
Primary Malignant Neoplasm Of Liver
|
|
Rare Tumor Of Liver And Intrahepatic Biliary Tract
|
Hepatocellular Carcinoma, Somatic
|
|
Hepatocellular Carcinoma, Childhood Type, Somatic
|
Hepatocellular Cancer, Somatic
|
|
Ca Liver - Primary
|
Hepatic Neoplasm
|
|
Malignant Hepato-Biliary Neoplasm
|
Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary
|
|
Malignant Neoplasm Of Liver, Primary
|
Malignant Tumor Of Liver
|
|
Neoplasm Of Liver
|
Non-Resectable Primary Hepatic Malignant Neoplasm
|
|
Resectable Malignant Neoplasm Of Liver
|
Resectable Malignant Neoplasm Of The Liver
|
|
Primary Liver Carcinoma
|
Primary Malignant Liver Neoplasm
|
|
Primary Cancer Of Liver
|
Primary Tumor Of The Liver
|
|
Rare Tumor Of Liver And Ibt
|
Hepatocellular Cancer
|
|
Neoplasm Of The Liver
|
Carcinoma, Hepatocellular
|
|
Hepatomas
|
Liver Neoplasm
|
|
Liver Carcinoma
|
Liver And Intrahepatic Biliary Tract Carcinoma
|
|
Malignant Hepatobiliary Neoplasm
|
Adult Primary Hepatocellular Carcinoma
|
|
Hepatoblastoma
|
Carcinoma Of Liver
|
|
Malignant Liver Tumour
|
Malignant Hepatic Tumour
|
|
|
| Liver Cirrhosis |
|
Cirrhosis
|
Cirrhosis Of Liver
|
|
CIRRH
|
Cryptogenic Cirrhosis
|
|
Cirrhosis, Cryptogenic
|
Cirrhosis Nos
|
|
|
| Hypermethioninemia |
|
Hepatic Methionine Adenosyltransferase Deficiency
|
Deficiency Of Methionine Adenosyltransferase
|
|
Glycine N-Methyltransferase Deficiency
|
Met
|
|
S-Adenosylhomocysteine Hydrolase Deficiency
|
Gnmt Deficiency
|
|
Mat Deficiency
|
Methionine Adenosyltransferase Deficiency
|
|
Methioninemia
|
Deficiency Of Acetyl-Coa Acetyltransferase
|
|
|
| Crigler-Najjar Syndrome, Type I |
|
Crigler-Najjar Syndrome
|
Crigler-Najjar Syndrome Type 1
|
|
Bilirubin Udp Glucuronyl Transferase Deficiency
|
Crigler Najjar Syndrome
|
|
Crigler Najjar Syndrome, Type 1
|
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency
|
|
Bilirubin-Ugt Deficiency
|
Hyperbilirubinemia, Crigler-Najjar Type I
|
|
Hblrcn1
|
Familial Nonhemolytic Unconjugated Hyperbilirubinemia
|
|
Hereditary Unconjugated Hyperbilirubinemia
|
Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency Type 1
|
|
Bilirubin-Ugt Deficiency Type 1
|
Crigler-Najjar Syndrome 1
|
|
CN1
|
Cn-I
|
|
Crigler-Najjar Syndrome Type I
|
Hereditary Unconjugated Hyperbilirubinaemia
|
|
Ugt Deficiency
|
Bilirubin Glucuronosyltransferase Deficiency
|
|
Crigler-Najjar Disease Or Syndrome
|
Deficiency Of Glucuronosyltransferase
|
|
Glucuronyl Transferase Deficiency
|
Glucuronyltransferase Deficiency
|
|
Udp Glucuronyl Transferase Deficiency
|
Cns - [Crigler-Najjar Syndrome]
|
|
Congenital Familial Nonhemolytic Jaundice
|
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Metabolic Syndrome X
|
Metabolic Syndrome
|
|
AOMS1
|
Dysmetabolic Syndrome X
|
|
Metabolic Disease
|
Abdominal Obesity Metabolic Syndrome
|
|
|
| Ochronosis |
|
|
| 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
|
|
|
| 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
|
|
|
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ornithine Carbamoyltransferase Deficiency
|
Ornithine Transcarbamylase Deficiency
|
|
Otc Deficiency
|
Ornithine Carbamoyltransferase Deficiency Disease
|
|
OTCD
|
Deficiency Of Citrulline Phosphorylase
|
|
Oct Deficiency
|
Hyperammonemia Due To Ornithine Carbamoyltransferase Deficiency
|
|
Deficiency, Ornithine Carbamoyltransferase
|
|
|
| Hemochromatosis, Type 1 |
|
Hemochromatosis
|
Hemochromatosis Type 1
|
|
Hereditary Hemochromatosis
|
Hh
|
|
HFE1
|
Hfe Hemochromatosis, Modifier Of
|
|
Symptomatic Form Of Classic Hemochromatosis
|
Symptomatic Form Of Hemochromatosis Type 1
|
|
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis
|
Haemochromatosis
|
|
Iron Storage Disorder
|
Bronze Diabetes
|
|
Hereditary Haemochromatosis
|
Hlah
|
|
Hfe
|
Hemochromatosis, Hereditary
|
|
Diabetes Bronze
|
Classic Hemochromatosis
|
|
Hfe-Associated Hereditary Hemochromatosis
|
Hemochromatosis Classic
|
|
Bronzed Cirrhosis
|
Familial Hemochromatosis
|
|
Genetic Hemochromatosis
|
Hc
|
|
Pigmentary Cirrhosis
|
Primary Hemochromatosis
|
|
Troisier-Hanot-Chauffard Syndrome
|
Von Recklenhausen-Applebaum Disease
|
|
Hemochromatosis 1
|
Primary Hereditary Hemochromatosis
|
|
Bronze Cirrhosis
|
|
|
| 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
|
|
|
| Fanconi Syndrome |
|
Infantile Nephropathic Cystinosis
|
Adult Fanconi Syndrome
|
|
Congenital Fanconi Syndrome
|
De Toni-Fanconi Syndrome
|
|
Fanconi-De Toni Syndrome
|
Lignac-Fanconi Syndrome
|
|
Fanconi Renotubular Syndrome
|
Primary Fanconi Renotubular Syndrome
|
|
De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
|
Detoni Fanconi Syndrome
|
Fanconi-De-Toni Syndrome
|
|
Primary Fanconi Syndrome
|
Detoni-Debre-Fanconi Syndrome
|
|
Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
|
Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
|
Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
|
|
| Bilirubin Metabolic Disorder |
|
Hyperbilirubinemia
|
Hereditary Hyperbilirubinemia
|
|
Hyperbilirubinemia, Hereditary
|
Hyperbilirubinaemia
|
|
|
