| 疾病名称 |
别名 |
|
| 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
|
|
|
| Congenital Myasthenic Syndrome Associated With Acetylcholine Receptor Deficiency |
|
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
|
|
|
| Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency |
|
Congenital Myasthenic Syndrome 4c
|
CMS4C
|
|
Cms Id
|
Cms1d
|
|
Congenital Myasthenic Syndrome Type Id
|
Fim1
|
|
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
|
Myasthenic Syndrome, Congenital, Type Id
|
|
Cms1d, Formerly
|
Cms Id, Formerly
|
|
Myasthenia, Familial Infantile, 1, Formerly
|
Fim1, Formerly
|
|
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency
|
Familial Infantile Myasthenia 1
|
|
Cms1e
|
Cms-Achrd
|
|
Cms Ie
|
Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
|
|
Congenital Myasthenic Syndrome Type 1d
|
Congenital Myasthenic Syndrome Type 1e
|
|
Congenital Myasthenic Syndrome Type Ie
|
Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenia, Familial Infantile, 1
|
Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenic Syndrome, Congenital, Ie
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| Lysinuric Protein Intolerance |
|
LPI
|
Dibasic Amino Aciduria Ii
|
|
Hyperdibasic Aminoaciduria
|
Dibasic Aminoaciduria 2
|
|
Dibasicamino Aciduria Ii
|
Congenital Lysinuria
|
|
Lpi - Lysinuric Protein Intolerance
|
|
|
| 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
|
|
|
| Esophageal Lipoma |
|
|
| Fumarase Deficiency |
|
Fumaric Aciduria
|
FMRD
|
|
Fumarate Hydratase Deficiency
|
Deficiency, Fumarase
|
|
|
| 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
|
|
|
| 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
|
|
|
| Cerebral Creatine Deficiency Syndrome 3 |
|
Arginine:Glycine Amidinotransferase Deficiency
|
Agat Deficiency
|
|
Gatm Deficiency
|
Creatine Deficiency Syndrome Due To Agat Deficiency
|
|
L-Arginine:Glycine Amidinotransferase Deficiency
|
CCDS3
|
|
L-Arginine:Glycine Aminidotransferase Deficiency
|
Deficiency, Cerebral Creatine, Syndrome, Type 3
|
|
|
| Pyrimidine Metabolic Disorder |
|
Disorder Of Pyrimidine Metabolism
|
Pyrimidine Metabolism Disorder
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Maple Syrup Urine Disease |
|
MSUD
|
Bckd Deficiency
|
|
Branched-Chain Ketoaciduria
|
Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
|
|
Keto Acid Decarboxylase Deficiency
|
Maple Syrup Urine Disease, Type Ii
|
|
Branched Chain Ketoaciduria
|
Classic Maple Syrup Urine Disease
|
|
Intermittent Maple Syrup Urine Disease
|
Maple Syrup Urine Disease, Type Ia
|
|
Ketoacidaemia
|
Bckdh Deficiency
|
|
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency
|
Thiamine-Responsive Maple Syrup Urine Disease
|
|
Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
|
Maple Syrup Urine Disease Type 1b
|
Maple Syrup Urine Disease Type 2
|
|
Maple Syrup Urine Disease, Type Ib
|
Dihydrolipoamide Dehydrogenase Deficiency
|
|
Branched-Chain Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Disease
|
|
Ketoacidemia
|
Classic Bckd Deficiency
|
|
Classic Msud
|
Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Classic Branched-Chain Ketoaciduria
|
Thiamine-Responsive Bckd Deficiency
|
|
Thiamine-Responsive Msud
|
Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
|
Intermittent Bckd Deficiency
|
Intermittent Msud
|
|
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
|
Maple Syrup Urine Disease 1a
|
|
MSUD1A
|
Maple Syrup Urine Disease Type Ia
|
|
Msud Type Ia
|
Maple Syrup Urine Disease 1b
|
|
MSUD1B
|
Maple Syrup Urine Disease Type Ib
|
|
Msud Type Ib
|
Maple Syrup Urine Disease 2
|
|
MSUD2
|
Maple Syrup Urine Disease Type Ii
|
|
Msud Type Ii
|
Nadh Cytochrome B5 Reductase Deficiency
|
|
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
|
Ketonemia
|
|
Maple Syrup Urine Disease, Type 1b
|
Ketoacid Decarboxylase Deficiency
|
|
Oxoacid Decarboxylase Deficiency
|
Branched Chain Ketoacid Dehydrogenase Deficiency
|
|
Msud - [Maple-Syrup-Urine Disease]
|
Ketoaminoacidaemia
|
|
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]
|
Maple-Syrup-Urine Disorder
|
|
Maple-Syrup-Urine Syndrome
|
|
|
| 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
|
|
|
| Peroxisome Biogenesis Disorder 1b |
|
Peroxisome Biogenesis Disorder
|
Infantile Refsum Disease
|
|
Infantile Phytanic Acid Storage Disease
|
PBD1B
|
|
Refsum Disease, Infantile
|
Adrenoleukodystrophy, Autosomal Neonatal
|
|
Ird
|
Mild Pbd-Zsd
|
|
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
Pbd-Zsd
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
Autosomal Neonatal Adrenoleukodystrophy
|
Refsum Disease Infantile
|
|
Peroxisome Biogenesis Disorders
|
Peroxisome Biogenesis Disorder, Type 1b
|
|
|
