| 疾病名称 |
别名 |
|
| Phenylketonuria |
|
Phenylalanine Hydroxylase Deficiency
|
PKU
|
|
Pah Deficiency
|
Folling Disease
|
|
Maternal Phenylketonuria
|
Phenylketonurias
|
|
Oligophrenia Phenylpyruvica
|
Hyperphenylalaninemia, Non-Pku Mild
|
|
Folling'S Disease
|
Phenylalaninemia
|
|
Mild Phenylketonuria
|
Mild Pku
|
|
Variant Pku
|
Variant Phenylketonuria
|
|
Mpku
|
Deficiency Disease, Phenylalanine Hydroxylase
|
|
Phenylketonuria, Maternal
|
Phenylalanine Hydroxylase Deficiency Disease
|
|
Hyperphenylalaninemic Embryopathy
|
Maternal Pku
|
|
Maternal Hyperphenylalaninemia
|
Phenylketonuric Embryopathy
|
|
Hyperphenylalaninemia
|
HPA
|
|
Non-Phenylketonuria Hyperphenylalaninemia
|
NON-PKU HPA
|
|
Phenylketonuria Maternal
|
Classical Phenylketonuria
|
|
Hyperphenylalaninaemia
|
Pku - [Phenylketonuria]
|
|
|
| Hyperphenylalaninemia |
|
|
| Mild Hyperphenylalaninemia |
|
Mild Hpa
|
Non-Pku Hpa
|
|
Mhpa
|
|
|
| Classic Phenylketonuria |
|
Classical Phenylketonuria
|
Classic Pku
|
|
Phenylketonuria Classical
|
Phenylpyruvic Oligophrenia
|
|
Oligophrenia Phenylpyruvica
|
Imbecilitus Phenylpyruvica
|
|
Typical Phenylketonuria
|
Phenylpyruvic Aciduria
|
|
Pah - [Phenylalanine Hydroxylase] Deficiency
|
Hyperphenylalaninaemia Type I
|
|
Typical Pku - [Phenylketonuria]
|
Folling Disease
|
|
|
| Tetrahydrobiopterin-Responsive Hyperphenylalaninemia/Phenylketonuria |
|
Bh4-Responsive Hpa/Pku
|
Bh4-Responsive Hyperphenylalaninemia/Phenylketonuria
|
|
Tetrahydrobiopterin-Responsive Hpa/Pku
|
|
|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
Pts Deficiency
|
|
HPABH4A
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Pts Deficiency
|
|
Ptsd
|
Bh4-Deficient Hyperphenylalaninemia A
|
|
Hyperphenylalaninemia Due To 6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Tetrahydobioperin-Deficient Hyperphenylalaninemia Due To Pts Deficiency
|
|
Hyperphenylalanemia, Bh4-Deficient, A
|
Hyperphenylalaninemia Due To 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
|
|
6-Pyruvoyltetrahydropterin Synthase Deficiency
|
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Pts Deficiency
|
|
Ptpsd
|
Hyperphenylalaninemia, Bh4-Deficient, Type A
|
|
|
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Cchs
|
CCHS1
|
|
Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease
|
Central Hypoventilation Syndrome, Congenital
|
|
Congenital Failure Of Autonomic Control
|
Autonomic Control, Congenital Failure Of
|
|
Ondine Curse, Congenital
|
Ondine Curse
|
|
Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung
|
Hypoventilation, Central, Syndrome, Congenital, Type 1
|
|
Congenital Central Hypoventilation
|
Sleep Apnea, Central
|
|
Central Alveolar Hypoventilation Syndrome
|
Cchs With Hirschsprung Disease
|
|
Congenital Central Alveolar Hypoventilation Syndrome
|
Sleep-Related Respiratory Failure
|
|
Hypoventilation
|
|
|
| Congenital Central Hypoventilation Syndrome |
|
Cchs
|
Haddad Syndrome
|
|
Ondine Curse
|
Ondine Syndrome
|
|
Congenital Central Hypoventilation
|
Congenital Central Alveolar Hypoventilation Syndrome
|
|
Congenital Failure Of Autonomic Control
|
Ondine'S Curse
|
|
Primary Alveolar Hypoventilation
|
Ondine-Hirschsprung Disease
|
|
Central Congenital Hypoventilation Syndrome
|
Congenital Ondine Curse
|
|
Idiopathic Congenital Central Alveolar Hypoventilation
|
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
|
|
Ondine-Hirschsprung Syndrome
|
|
|
| Tyrosinemia |
|
Hypertyrosinemia
|
Tyrosinemias
|
|
Hereditary Tyrosinemia
|
Hypertyrosinaemia
|
|
Tyrosinaemia
|
Hereditary Hypertyrosinemia
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Sepiapterin Reductase Deficiency
|
Spr Deficiency
|
|
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
|
Srd
|
|
Drd Due To Srd
|
Dopa-Responsive Hypersomnia
|
|
Dyt-Spr
|
Dyt/Park-Spr
|
|
Sr-Deficient Drd
|
Autosomal Recessive Sepiapterin Reductase-Deficient Drd
|
|
Spr
|
DRDSPRD
|
|
Motor And Cognitive Disorder Due To Sepiapterin Reductase Deficiency
|
Psychomotor Disorders
|
|
|
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo
|
VAMAS1
|
|
Slev1
|
Vtlg
|
|
Systemic Lupus Erythematosus, Vitiligo-Related
|
Vitiligo-Associated Multiple Autoimmune Disease 1
|
|
Systemic Lupus Erythematosus Vitiligo-Related
|
|
|
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Gtp Cyclohydrolase I Deficiency
|
HPABH4B
|
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase I Deficiency
|
Bh4-Deficient Hyperphenylalaninemia B
|
|
Gtp Cyclohydrolase 1 Deficiency
|
Tetrahydrobiopterin-Deficient Hyperphenylalaninemia B
|
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Gtp Cyclohydrolase 1 Deficiency
|
Gtpch Deficiency
|
|
Hyperphenylalaninemia Due To Gtp Cyclohydrolase Deficiency
|
Atypical Severe Phenylketonuria Due To Gtp Cyclohydrolase I Deficiency
|
|
Gch1 Deficiency
|
Guanosine Triphosphate Cyclohydrolase I Deficiency
|
|
Hyperphenylalaninemia With Neopterin Deficiency
|
|
|
| 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
|
|
|
| Psychotic Disorder |
|
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
|
Psychotic
|
Mental Disorders
|
|
|
| Galactosemia I |
|
Galactosemia
|
Galt Deficiency
|
|
Classic Galactosemia
|
Galactose-1-Phosphate Uridylyltransferase Deficiency
|
|
Galactose-1-Phosphate Uridyltransferase Deficiency
|
GALAC1
|
|
Galactosemia, Classic
|
Galactosemia Type 1
|
|
Galactosemias
|
Classical Galactosemia
|
|
Galactosaemia
|
Galactose Intolerance
|
|
Epimerase Deficiency Galactosemia
|
Galactokinase Deficiency Disease
|
|
Galactose Epimerase Deficiency
|
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
|
|
Gale Deficiency
|
Galk Deficiency
|
|
Udp-Galactose-4-Epimerase Deficiency Disease
|
Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
|
|
Galactosemia 1
|
Galactosemia, Duarte Variant
|
|
Deficiency Of Galactokinase
|
Udpglucose 4-Epimerase Deficiency Disease
|
|
Classical Galactosaemia
|
Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
|
|
Classic Galactosaemia
|
Deficiency Of Hexose-1-Phosphate Uridylyltransferase
|
|
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase
|
Deficiency Of Galactose-1-Phosphate Uridylyltransferase
|
|
Galactose-1-Phosphate Uridyl Transferase Deficiency
|
Transferase Deficiency Galactosemia
|
|
Deficiency Of Uridyl Transferase
|
Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
|
|
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
|
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Metabolic Syndrome X
|
Metabolic Syndrome
|
|
AOMS1
|
Dysmetabolic Syndrome X
|
|
Metabolic Disease
|
Abdominal Obesity Metabolic Syndrome
|
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Mcad Deficiency
|
Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Acadm Deficiency
|
Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of
|
|
Medium Chain Acyl-Coa Dehydrogenase Deficiency
|
ACADMD
|
|
Mcadh Deficiency
|
Mcadd
|
|
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Acyl-Coa Dehydrogenase Medium-Chain Deficiency
|
|
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Medium Chain Acyl Dehydrogenase Deficiency
|
|
|
| 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
|
|
|
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Aadc Deficiency
|
Dopa Decarboxylase Deficiency
|
|
Ddc Deficiency
|
Aromatic Amino Acid Decarboxylase Deficiency
|
|
Deficiency Of Aromatic-L-Amino-Acid Decarboxylase
|
AADCD
|
|
Aromatic-L-Amino-Acid Decarboxylase Deficiency
|
Aromatic L-Amino-Acid Decarboxylase Deficiency
|
|
|
| Carnitine Deficiency, Systemic Primary |
|
Carnitine Uptake Defect
|
Renal Carnitine Transport Defect
|
|
Systemic Primary Carnitine Deficiency
|
CDSP
|
|
Systemic Carnitine Deficiency
|
Carnitine Transporter Deficiency
|
|
Cud
|
Primary Carnitine Deficiency
|
|
Carnitine Uptake Deficiency
|
Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
|
|
Carnitine Deficiency, Primary
|
Systemic Primary Carnitine Deficiency Disease
|
|
Deficiency Of Plasma-Membrane Carnitine Transporter
|
Scd
|
|
Carnitine Transporter, Plasma-Membrane, Deficiency Of
|
Carnitine Transport Defect
|
|
Carnitine Plasma-Membrane Transporter Deficiency
|
Carnitine Transporter Defect
|
|
Spcd
|
|
|
| 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
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| 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
|
|
|
| Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency |
|
Favism
|
Favism, Susceptibility To
|
|
Hemolytic Anemia, G6pd Deficient
|
Class I Glucose-6-Phosphate Dehydrogenase Deficiency
|
|
Class I G6pd Deficiency
|
Severe Hemolytic Anemia Due To G6pd Deficiency
|
|
Anemia, Non-Spherocytic Hemolytic, Due To G6pd Deficiency
|
NSHA
|
|
G6pd Deficient Hemolytic Anemia
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| 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
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| 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
|
|
|
| Parkinson Disease, Late-Onset |
|
Parkinson Disease
|
Parkinson'S Disease
|
|
PD
|
PARK
|
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
|
Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
|
|
Parkinson Disease Nos
|
Parkinson, Nos
|
|
Primary Parkinson Disease
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
