| 疾病名称 |
别名 |
|
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfite Oxidase Deficiency
|
Sulfocysteinuria
|
|
Isolated Sulfite Oxidase Deficiency
|
ISOD
|
|
Encephalopathy Due To Sulfite Oxidase Deficiency
|
|
|
| Molybdenum Cofactor Deficiency |
|
Combined Molybdoflavoprotein Enzyme Deficiency
|
Mocod
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
|
|
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency
|
Deficiency Of Molybdenum Cofactor
|
|
Deficiency, Molybdenum Cofactor
|
|
|
| Encephalomalacia |
|
|
| Isolated Ectopia Lentis |
|
Familial Ectopia Lentis
|
Ectopia Lentis
|
|
Ectopia Lentis Syndrome
|
Lens Subluxation
|
|
Iel
|
Congenital Ectopia Lentis
|
|
Subluxation Of Lens
|
Ectopia Lentis, Isolated
|
|
Ectopia Lentis Isolated
|
|
|
| Xanthinuria, Type I |
|
Xanthine Dehydrogenase Deficiency
|
Xdh Deficiency
|
|
Xanthine Oxidase Deficiency
|
XAN1
|
|
Xanthinuria Type 1
|
Type 1 Xanthinuria
|
|
Xanthinuria Type I
|
Xo Deficiency
|
|
Xor Deficiency
|
Xanthine Oxidoreductase Deficiency
|
|
Xanthinuria 1
|
Xanthic Urolithiasis
|
|
Urolithiasis
|
|
|
| Xanthinuria |
|
Xanthine Dehydrogenase Deficiency
|
Xanthine Oxidase Deficiency
|
|
Hereditary Xanthinuria
|
Xanthic Urolithiasis
|
|
Xanthine Stone Disease
|
Xanthinuria, Type I
|
|
Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase
|
Xdh Deficiency
|
|
Classic Xanthinuria
|
Xanthinuria, Type Ii
|
|
Classical Xanthinuria
|
Xanthine Calculus
|
|
|
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
ECTOL1
|
Ectopia Lentis, Familial
|
|
Autosomal Dominant Isolated Ectopia Lentis 1
|
|
|
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
ECTOL2
|
Ectopia Lentis, Isolated, Autosomal Recessive
|
|
Autosomal Recessive Isolated Ectopia Lentis 2
|
Autosomal Recessive Isolated Ectopia Lentis
|
|
Ectopia Lentis, Isolated Autosomal Recessive
|
Ectopia Lentis, Isolated Autosomal Recessive, Type 2
|
|
|
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
MOCODA
|
Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A
|
|
Molybdenum Cofactor Deficiency A
|
Molybdenum Cofactor Deficiency Type A
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A
|
Mocod Type A
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase
|
Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of
|
|
Molybdenum Cofactor Deficiency Complementation Group A
|
Molybdenum Cofactor Deficiency, Type A
|
|
Deficiency, Molybdenum Cofactor, Complementation Group A
|
|
|
| Encephalopathy, Ethylmalonic |
|
Ethylmalonic Encephalopathy
|
EE
|
|
Epema Syndrome
|
Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
Ethe1 Deficiency
|
Eme
|
|
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria
|
|
|
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
MOCODB
|
Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type B
|
|
Molybdenum Cofactor Deficiency B
|
Molybdenum Cofactor Deficiency Type B
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type B
|
Mocod Type B
|
|
Molybdenum Cofactor Deficiency Complementation Group B
|
Deficiency, Molybdenum Cofactor, Complementation Group B
|
|
|
| Developmental And Epileptic Encephalopathy 21 |
|
DEE21
|
Epileptic Encephalopathy, Early Infantile, 21
|
|
Eiee21
|
Developmental And Epileptic Encephalopathy, 21
|
|
Early Infantile Epileptic Encephalopathy 21
|
Encephalopathy, Epileptic, Early Infantile, Type 21
|
|
|
| Bilateral Frontal Polymicrogyria |
|
|
| Homocystinuria |
|
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
|
Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
| Holocarboxylase Synthetase Deficiency |
|
HLCS DEFICIENCY
|
Early-Onset Multiple Carboxylase Deficiency
|
|
Biotin- Ligase Deficiency
|
Neonatal Multiple Carboxylase Deficiency
|
|
Multiple Carboxylase Deficiency, Neonatal Form
|
Multiple Carboxylase Deficiency, Early Onset
|
|
Multiple Carboxylase Deficiency - Neonatal Onset
|
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
|
Early-Onset Combined Carboxylase Deficiency
|
Infantile Multiple Carboxylase Deficiency
|
|
Biotin-Responsive Mcd
|
Biotin-Responsive Multiple Carboxylase Deficiency
|
|
Early-Onset Mcd
|
Mcd Neonatal Form
|
|
|
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
MOCODC
|
Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type C
|
|
Molybdenum Cofactor Deficiency C
|
Molybdenum Cofactor Deficiency Type C
|
|
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type C
|
Mocod Type C
|
|
Molybdenum Cofactor Deficiency Complementation Group C
|
Deficiency, Molybdenum Cofactor, Complementation Group C
|
|
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Depersonalization Disorder |
|
Neurotic Derealization
|
Depersonalization
|
|
Depersonalization/Derealization Disorder
|
Depersonalisation-Derealization Syndrome
|
|
Depersonalisation Disorder
|
Depersonalisation Neurosis
|
|
Depersonalisation Syndrome
|
Feeling Of Unreality
|
|
Feels Own Self Is Unreal
|
Neurotic State With Depersonalisation
|
|
Neurotic State With Depersonalization Episode
|
|
|
| Hyperlysinemia, Type I |
|
Hyperlysinemia
|
Lysine Intolerance
|
|
Alpha-Aminoadipic Semialdehyde Synthase Deficiency
|
Lysine:Alpha-Ketoglutarate Reductase Deficiency
|
|
L-Lysine:Nad-Oxido-Reductase Deficiency
|
Lysine Alpha-Ketoglutarate Reductase Deficiency
|
|
Alpha-Aminoadipic Semialdehyde Deficiency Disease
|
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease
|
|
Saccharopinuria
|
Hyperlysinemia Type I
|
|
Hyperlysinemias
|
L-Lysine Nad-Oxido-Reductase Deficiency
|
|
Familial Hyperlysinemia
|
Saccharopine Dehydrogenase Deficiency Disease
|
|
Hyperlysinemia, 1
|
HYPLYS1
|
|
Saccharopine Dehydrogenase Deficiency
|
|
|
| Biotinidase Deficiency |
|
Late-Onset Multiple Carboxylase Deficiency
|
BTD DEFICIENCY
|
|
Multiple Carboxylase Deficiency, Late-Onset
|
Multiple Carboxylase Deficiency, Juvenile-Onset
|
|
Juvenile-Onset Multiple Carboxylase Deficiency
|
Biotin Deficiency
|
|
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Deficiency Of Biotinidase
|
|
Biot
|
Carboxylase Deficiency, Multiple, Late-Onset
|
|
Late-Onset Mcd
|
Mcd Juvenile Form
|
|
Biotin Deficiency Disease
|
|
|
| D-2-Hydroxyglutaric Aciduria 1 |
|
D-2-Hydroxyglutaric Aciduria
|
D2HGA1
|
|
D-2-Hga
|
D-2-Hydroxyglutaric Acidemia
|
|
D2ha
|
D2hga
|
|
Aciduria, D-2-Hydroxyglutaric, Type 1
|
Combined D-2- And L-2-Hydroxyglutaric Aciduria
|
|
|
| Phosphoserine Aminotransferase Deficiency |
|
Psat Deficiency
|
PSATD
|
|
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
|
Psat Deficiency, Infantile/Juvenile Form
|
|
Deficiency, Phosphoserine Aminotransferase
|
|
|
| Purine-Pyrimidine Metabolic Disorder |
|
Inborn Errors Of Purine-Pyrimidine Metabolism
|
Disorder Of Purine Or Pyrimidine Metabolism
|
|
|
| Glycine Encephalopathy |
|
Non-Ketotic Hyperglycinemia
|
Nonketotic Hyperglycinemia
|
|
NKH
|
GCE
|
|
Hyperglycinemia, Nonketotic
|
Hyperglycinemia Nonketotic
|
|
Infantile Glycine Encephalopathy
|
Encephalopathy, Glycine
|
|
Glycine Synthase Deficiency
|
Nka
|
|
Neonatal Glycine Encephalopathy
|
Classic Glycine Encephalopathy
|
|
Neonatal Nkh
|
Neonatal Non-Ketotic Hyperglycinemia
|
|
Infantile Nkh
|
Infantile Non-Ketotic Hyperglycinemia
|
|
Non-Ketotic Hyperglycinaemia
|
Glycine Cleavage Deficiency
|
|
Nonketotic Hyperglycinaemia
|
|
|
| Multiple Carboxylase Deficiency |
|
Mcd
|
Holocarboxylase Synthetase Deficiency
|
|
|
| Cerebral Creatine Deficiency Syndrome 2 |
|
Guanidinoacetate Methyltransferase Deficiency
|
Gamt Deficiency
|
|
Creatine Deficiency Syndrome Due To Gamt Deficiency
|
Deficiency Of Guanidinoacetate Methyltransferase
|
|
CCDS2
|
Guanidinoacetate Methyltransferase Deficiency
|
|
Deficiency, Cerebral Creatine, Syndrome, Type 2
|
Language Development Disorders
|
|
|
| Hemiplegia |
|
Infantile Hemiplegia
|
Postnatal Infantile Hemiplegia
|
|
Hemiplegia, Infantile
|
|
|
| 2-Hydroxyglutaric Aciduria |
|
2-Hga
|
2-Hydroxyglutaric Acidemia
|
|
2-Hydroxyglutaricaciduria
|
Combined D-2- And L-2-Hydroxyglutaric Aciduria
|
|
|
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Dpd Deficiency
|
Familial Pyrimidinemia
|
|
Hereditary Thymine-Uraciluria
|
Dihydropyrimidinuria
|
|
Dpyd Deficiency
|
Thymine-Uraciluria, Hereditary
|
|
Pyrimidinemia, Familial
|
5-Fluorouracil Toxicity
|
|
Dihydrouracil Dehydrogenase Deficiency
|
Familial Pyrimidinaemia
|
|
Thymine-Uracilurea
|
Familial Pyrimidemia
|
|
Pyrimidinemia Familial
|
DPYDD
|
|
|
| D-Bifunctional Protein Deficiency |
|
Bifunctional Peroxisomal Enzyme Deficiency
|
17-Beta-Hydroxysteroid Dehydrogenase Iv Deficiency
|
|
Dbp Deficiency
|
Peroxisomal Bifunctional Enzyme Deficiency
|
|
Pbfe Deficiency
|
Bifunctional Enzyme Deficiency
|
|
Pseudo-Zellweger Syndrome
|
Zellweger-Like Syndrome
|
|
DBPD
|
Protein Deficiency, D-Bifunctional
|
|
|
| Serine Deficiency |
|
|
| Lens Subluxation |
|
|
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Pyruvate Dehydrogenase Deficiency
|
Pyruvate Dehydrogenase Complex Deficiency
|
|
Pyruvate Decarboxylase Deficiency
|
Pdh Deficiency
|
|
PDHAD
|
Pyruvate Dehydrogenase Complex Deficiency Disease
|
|
Ataxia With Lactic Acidosis I
|
Ataxia With Lactic Acidosis 1
|
|
Pdh
|
Pdhc
|
|
Ataxia With Lactic Acidosis
|
Ataxia, Intermittent, With Abnormal Pyruvate Metabolism
|
|
Ataxia, Intermittent, With Pyruvate Dehydrogenase Deficiency
|
Deficiency Of Pyruvic Dehydrogenase
|
|
Ataxia, Intermittent, With Pyruvate Dehydrogenase, Or Decarboxylase, Deficiency
|
Pdc Deficiency
|
|
Intermittent Ataxia With Pyruvate Dehydrogenase Deficiency
|
Pdhc Deficiency
|
|
Pyruvate Dehydrogenase Complex E1 Component Subunit Alpha Deficiency
|
Ataxia Intermittent With Abnormal Pyruvate Metabolism
|
|
Ataxia Intermittent With Pyruvate Dehydrogenase Or Decarboxylase Deficiency
|
Pyruvate Dehydrogenase E1 Alpha Deficiency
|
|
Pdc - [Pyruvate Dehydrogenase Complex] Deficiency
|
Ataxia With Lactic Acidosis 2
|
|
|
| Metal Metabolism Disorder |
|
Metal Metabolism, Inborn Errors
|
Inborn Metal Metabolism Disorder
|
|
|
| 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
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Menkes Disease |
|
Copper Transport Disease
|
Menkes Syndrome
|
|
MNK
|
Kinky Hair Disease
|
|
Steely Hair Disease
|
Menkes Kinky-Hair Syndrome
|
|
Mk
|
Steely Hair Syndrome
|
|
Menkea Syndrome
|
Md
|
|
Menkes Kinky Hair Syndrome
|
Hypocupremia, Congenital
|
|
Kinky Hair Syndrome
|
X-Linked Copper Deficiency
|
|
Menkes Kinky Hair Disease
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
