| 疾病名称 |
别名 |
|
| 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
|
|
|
| Acute Neonatal Citrullinemia Type I |
|
Acute Neonatal Citrullinemia Type 1
|
Classic Citrullinemia Type 1
|
|
Classic Citrullinemia Type I
|
|
|
| Adult-Onset Citrullinemia Type I |
|
Adult-Onset Citrullinemia Type 1
|
Late-Onset Citrullinemia Type 1
|
|
Late-Onset Citrullinemia Type I
|
|
|
| Argininosuccinic Aciduria |
|
Argininosuccinate Lyase Deficiency
|
Asl Deficiency
|
|
Argininosuccinic Acid Lyase Deficiency
|
Argininosuccinase Deficiency
|
|
Argininosuccinic Acidemia
|
Arginosuccinase Deficiency
|
|
Asa Deficiency
|
Argininosuccinicaciduria
|
|
Asauria
|
Deficiency Of Argininosuccinate Lyase
|
|
Asld
|
Arginino Succinase Deficiency
|
|
Argininosuccinate Acidemia
|
Inborn Error Of Urea Synthesis, Arginino Succinic Type
|
|
Urea Cycle Disorder, Arginino Succinase Type
|
Argininosuccinyl-Coa Lyase Deficiency
|
|
Asa
|
Argininosuccinatelyase Deficiency
|
|
ARGINSA
|
Aciduria Argininosuccinic
|
|
Citrullinemia
|
Argininosuccinic Acidaemia
|
|
Metabolic Disorder Of Arginosuccinic Acid
|
|
|
| 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
|
|
|
| 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
|
|
|
| Lysinuric Protein Intolerance |
|
LPI
|
Dibasic Amino Aciduria Ii
|
|
Hyperdibasic Aminoaciduria
|
Dibasic Aminoaciduria 2
|
|
Dibasicamino Aciduria Ii
|
Congenital Lysinuria
|
|
Lpi - Lysinuric Protein Intolerance
|
|
|
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Carbamoyl Phosphate Synthetase I Deficiency
|
Cps I Deficiency
|
|
Carbamoyl Phosphate Synthetase I Deficiency Disease
|
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
|
Congenital Hyperammonemia, Type I
|
Carbamoylphosphate Synthetase I Deficiency
|
|
Carbamoyl Phosphate Synthetase 1 Deficiency
|
CPS1D
|
|
Carbamoyl Phosphate Synthetase Deficiency
|
Cps 1 Deficiency
|
|
Carbamyl Phosphate Synthetase Deficiency
|
Hyperammonemia Due To Carbamoyl Phosphate Synthetase 1 Deficiency
|
|
Carbamyl-Phosphate Synthetase I Deficiency Disease
|
Carbamoyl-Phosphate Synthetase 1 Deficiency
|
|
Cps1 Deficiency
|
Carbamoyl-Phosphate Synthetase I Deficiency
|
|
Carbamoyl-Phosphate Synthetase Deficiency
|
Hyperammonemia Due To Carbamoyl Phosphate Synthetase I Deficiency
|
|
Deficiency, Carbamoylphosphate Synthetase I
|
Carbamylphosphate Synthetase Deficiency
|
|
|
| Orotic Aciduria |
|
Hereditary Orotic Aciduria
|
Orotidylic Pyrophosphorylase And Orotidylic Decarboxylase Deficiency
|
|
Uridine Monophosphate Synthase Deficiency
|
Umps Deficiency
|
|
Uridine Monophosphate Synthetase Deficiency
|
Orotic Aciduria I
|
|
Orotate Phosphoribosyltransferase And Orotidylic Decarboxylase Deficiency
|
Oprt And Odc Deficiency
|
|
Ump Synthase Deficiency
|
Orotic Aciduria Ii
|
|
Oroticaciduria 1
|
Orotic Aciduria Hereditary
|
|
Orotic Aciduria Type 1
|
Hereditary Orotic Aciduria Without Megaloblastic Anemia
|
|
Orotate Phosphoribosyltransferase And Omp Decarboxylase Deficiency
|
Ump Synthtase Deficiency
|
|
Umps
|
Orotidylic Decarboxylase Deficiency
|
|
Orotic Aciduria 1
|
ORAC1
|
|
Aciduria, Orotic
|
Hereditary Orotic Aciduria, Type 1
|
|
Orotic Aciduria Nos
|
Orotaciduric Anaemia
|
|
Orotic Aciduria Anaemia
|
Orotic Aciduria Megaloblastic Anaemia
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
CA5AD
|
Hyperammonemia Due To Carbonic Anhydrase Va Deficiency
|
|
Hyperammonemia
|
|
|
| Propionic Acidemia |
|
Ketotic Hyperglycinemia
|
Propionyl-Coa Carboxylase Deficiency
|
|
Pcc Deficiency
|
Propionicacidemia
|
|
Glycinemia, Ketotic
|
Hyperglycinemia With Ketoacidosis And Leukopenia
|
|
Ketotic Glycinemia
|
Propionic Aciduria
|
|
Prop
|
Acidemia, Propionic
|
|
PA-1
|
Ketotic Ii Glycinemia
|
|
Hyperglycinemia, Ketotic
|
Propionic Acidemia Type I
|
|
Propionic Acidemia Type Ii
|
PA-2
|
|
Propionicaciduria
|
|
|
| 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
|
|
|
| N-Acetylglutamate Synthase Deficiency |
|
Nags Deficiency
|
N-Acetylglutamate Synthetase Deficiency
|
|
Hyperammonemia, Type Iii
|
Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
|
|
NAGSD
|
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
|
|
N-Acetyl Glutamate Synthetase Deficiency
|
Nag Synthetase Deficiency
|
|
Deficiency, N-Acetylglutamate Synthase
|
|
|
| Nail-Patella Syndrome |
|
Turner-Kieser Syndrome
|
Onychoosteodysplasia
|
|
Fong Disease
|
NPS
|
|
Hereditary Onycho-Osteodysplasia
|
Nps1
|
|
Hereditary Onychoostedysplasia
|
Iliac Horn Syndrome
|
|
Nail Patella Syndrome
|
Turner-Kiser Syndrome
|
|
Arthro-Onychodysplasia
|
Nps 1
|
|
Osteo-Onychodysplasia
|
Hereditary Osteo-Onychodysplasia
|
|
Osterreicher Syndrome
|
Pelvic Horn Syndrome
|
|
Österreicher-Turner Syndrome
|
Nps - [Nail-Patella Syndrome]
|
|
Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
|
|
|
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hhh Syndrome
|
Ornithine Translocase Deficiency
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinemia Syndrome
|
HHHS
|
|
Hhh
|
Triple H Syndrome
|
|
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
|
Ornithine Translocase Deficiency Syndrome
|
|
Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria Syndrome
|
Ornt1 Deficiency
|
|
Ornithine Carrier Deficiency
|
Hyperornithinemia, Hyperammonemia, Homocitrullinuria Syndrome
|
|
|
| Pyrimidine Metabolic Disorder |
|
Disorder Of Pyrimidine Metabolism
|
Pyrimidine Metabolism Disorder
|
|
|
| Hepatic Encephalopathy |
|
Encephalopathy, Hepatic
|
Portal-Systemic Encephalopathy
|
|
Hepatoencephalopathy
|
He - [Hepatic Encephalopathy]
|
|
Hepatic Encephalopathy Nos
|
Hepatic Encephalopathy, Stage Unspecified
|
|
Hepatic Coma
|
Hepatocerebral Encephalopathy
|
|
Hepatocerebral Intoxication
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Myxofibrosarcoma |
|
Fibromyxosarcoma
|
Fibromyxoid Sarcoma
|
|
Myxoid Malignant Fibrous Histiocytoma
|
Dermatofibrosarcoma Protuberans, Myxoid
|
|
|
| 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
|
|
|
| Leukemia, Chronic Myeloid |
|
Chronic Myeloid Leukemia
|
Chronic Myelogenous Leukemia
|
|
CML
|
Chronic Granulocytic Leukemia
|
|
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib
|
Chronic Myeloid Leukaemia
|
|
Chronic Granulocytic Leukaemia
|
Chronic Myelogenous Leukaemia
|
|
Myeloid Leukemia, Chronic
|
Leukemia, Chronic Myelogenous
|
|
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic
|
Cml - Chronic Myelogenous Leukemia
|
|
Cgl
|
Chronic Myelocytic Leukemia
|
|
Leukemia, Chronic Myeloid, Atypical
|
ACML
|
|
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative
|
Myeloid Leukemia Chronic
|
|
Leukemia, Myeloid, Chronic
|
Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
|
|
Cml- [Chronic Myeloid Leukaemia]
|
Cgl - [Chronic Granulocytic Leukaemia]
|
|
Chronic Myelocytic Leukaemia
|
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
|
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
|
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
|
|
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
|
