| 疾病名称 |
别名 |
|
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dihydropteridine Reductase Deficiency
|
Dhpr Deficiency
|
|
Quinoid Dihydropteridine Reductase Deficiency
|
Qdpr Deficiency
|
|
HPABH4C
|
Hyperphenylalaninemia Due To Dihydropteridine Reductase Deficiency
|
|
Pku Type 2
|
Phenylketonuria Type 2
|
|
Hyperphenylalaninemia, Tetrahydrobiopterin-Deficient, Due To Dhpr Deficiency
|
Bh4-Deficient Hyperphenylalaninemia C
|
|
Tetrahydrobiopterin -Deficient Hyperphenylalaninemia Due To Dihydropteridine Reductase Deficiency
|
Hyperphenylalaninemia, Bh-4-Deficient, C
|
|
Phenylketonuria Type Ii
|
Hyperphenylalaninemia Tetrahydrobiopterin-Deficient Due To Dhpr Deficiency
|
|
Phenylketonuria Ii
|
|
|
| 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
|
|
|
| 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 |
|
|
| 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
|
|
|
| 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
|
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| Hypokalemic Periodic Paralysis, Type 2 |
|
HOKPP2
|
Periodic Paralysis Hypokalemic 2
|
|
Paralysis, Hypokalemic, Periodic, Type 2
|
|
|
| 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
|
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemic Periodic Paralysis
|
Hokpp
|
|
Hypopp
|
Westphall Disease
|
|
HOKPP1
|
Familial Hypokalemic Periodic Paralysis
|
|
Familial Periodic Paralysis
|
Westphal Disease
|
|
Hypokalemic Periodic Paralysis Type 1
|
Hypokalemic Familial Periodic Paralysis
|
|
Periodic Hypokalemic Paralysis
|
Periodic Paralysis I
|
|
Hypokpp
|
Primary Hypokalemic Periodic Paralysis
|
|
Periodic Paralysis Hypokalemic 1
|
Paralysis, Hypokalemic, Periodic
|
|
Paralysis, Hypokalemic, Periodic, Type 1
|
|
|
| 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
|
|
|
| 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
|
|
|
| Tyrosinemia |
|
Hypertyrosinemia
|
Tyrosinemias
|
|
Hereditary Tyrosinemia
|
Hypertyrosinaemia
|
|
Tyrosinaemia
|
Hereditary Hypertyrosinemia
|
|
|
| King-Denborough Syndrome |
|
King Denborough Syndrome
|
King Syndrome
|
|
Kousseff Nichols Syndrome
|
KDS
|
|
Noonan Like Contracture Myopathy Hyperpyrexia
|
Anesthetic-Induced Malignant Hyperpyrexia In Children
|
|
Koussef-Nichols Syndrome
|
|
|
| Glutamate Formiminotransferase Deficiency |
|
Formiminoglutamic Aciduria
|
Formiminotransferase Deficiency
|
|
FIGLU-URIA
|
Arakawa Syndrome 1
|
|
Formiminoglutamic Acidemia
|
Formiminotransferase Cyclodeaminase Deficiency
|
|
Formiminotransferase Deficiency Syndrome
|
Ftcd Deficiency
|
|
Formiminoglutamicaciduria
|
Figluria
|
|
|
| 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
|
|
|
| Oculogyric Crisis |
|
|
| Histidinemia |
|
Histidine Ammonia-Lyase Deficiency
|
Hal Deficiency
|
|
Histidase Deficiency
|
His Deficiency
|
|
Histidinuria
|
Hyperhistidinemia
|
|
HISTID
|
Histidinuria Renal Tubular Defect
|
|
|
| Histidine Metabolism Disease |
|
Disturbances Of Histidine Metabolism
|
Disorder Of Histidine Metabolism
|
|
Disturbance Of Histidine Metabolism
|
|
|
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Pnpo Deficiency
|
Pyridoxamine 5'-Phosphate Oxidase Deficiency
|
|
Pnpo-Related Neonatal Epileptic Encephalopathy
|
Pyridoxal Phosphate-Responsive Seizures
|
|
Pyridoxal 5'-Phosphate-Dependent Epilepsy
|
Pyridoxine-5'-Phosphate Oxidase Deficiency
|
|
PNPOD
|
Seizures, Pyridoxine-Resistant, Plp-Sensitive
|
|
Pyridoxal Phosphate-Dependent Seizures
|
Pyridoxamine 5'-Oxidase Deficiency
|
|
Epileptic Encephalopathy, Neonatal, Pnpo-Related
|
Pyridox Ine 5'-Phosphate Oxidase Deficiency
|
|
Deficiency, Pyridoxamine 5'-Phosphate Oxidase
|
|
|
| Central Core Disease Of Muscle |
|
Central Core Disease
|
Central Core Myopathy
|
|
CCD
|
Cco
|
|
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber
|
Myopathy, Central Core
|
|
Shy-Magee Syndrome
|
Muscle Core Disease
|
|
Muscular Central Core Disease
|
Myopathy, Central Fibrillar
|
|
Shy'S Disease
|
Moderate Multiminicore Disease With Hand Involvement
|
|
|
| Keratomalacia |
|
Vitamin A Deficiency
|
Night Blindness
|
|
Retinol Deficiency
|
Xerotic Keratitis
|
|
VAD
|
Vitamin A
|
|
Hypovitaminosis A
|
Bitot Spots
|
|
Bitot Spots In The Young Child
|
Conjunctival Xerosis With Bitot'S Spots
|
|
Vitamin A Deficiency With Cornea Xerosis
|
Vitamin A Deficiency With Cornea Ulceration Or Xerosis
|
|
|
| Thiamine Metabolism Dysfunction Syndrome 2 |
|
Biotin-Responsive Basal Ganglia Disease
|
Basal Ganglia Disease, Biotin-Responsive
|
|
THMD2
|
Bbgd
|
|
Btbgd
|
Encephalopathy, Thiamine-Responsive
|
|
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- Or Thiamine-Responsive Type
|
Thiamine-Responsive Encephalopathy
|
|
|
| Multiminicore Disease |
|
Multiminicore Myopathy
|
Mmd
|
|
Minicore Disease
|
Minicore Myopathy
|
|
Multi-Core Congenital Myopathy
|
Multi-Core Disease
|
|
Multi-Minicore Disease
|
Multicore Disease
|
|
Multicore Myopathy
|
Minicore Myopathy With External Ophthalmoplegia
|
|
|
| Glutathione Synthetase Deficiency |
|
5-Oxoprolinuria
|
Pyroglutamic Aciduria
|
|
Pyroglutamicaciduria
|
Glutathione Synthetase Deficiency With 5-Oxoprolinuria
|
|
GSSD
|
Oxoprolinase Deficiency
|
|
5-Oxoprolinemia
|
Deficiency Of Glutathione Synthase
|
|
Deficiency Of Glutathione Synthetase
|
Pyroglutamic Acidemia
|
|
GSS DEFICIENCY
|
Gluthathione Synthetase Deficiency
|
|
5-Oxoprolinase Deficiency
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Cerebral Creatine Deficiency Syndrome 1 |
|
Creatine Transporter Deficiency
|
Creatine Transporter Defect
|
|
Slc6a8 Deficiency
|
X-Linked Creatine Deficiency Syndrome
|
|
CCDS1
|
Creatine Deficiency Syndrome, X-Linked
|
|
X-Linked Creatine Deficiency
|
Creatine Deficiency, X-Linked
|
|
X-Linked Creatine Transporter Deficiency
|
Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia
|
|
Mental Retardation, X-Linked, With Creatine Transport Deficiency
|
Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia
|
|
Intellectual Disability, X-Linked, With Creatine Transport Deficiency
|
Slc6a8-Related Creatine Transporter Deficiency
|
|
Deficiency, Cerebral Creatine, Syndrome, Type 1
|
|
|
| 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
|
|
|
| Folate Malabsorption, Hereditary |
|
Hereditary Folate Malabsorption
|
Congenital Defect Of Folate Absorption
|
|
Congenital Folate Malabsorption
|
Folic Acid Transport Defect
|
|
HFM
|
|
|
| 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
|
|
|
| Argininemia |
|
Hyperargininemia
|
Arginase Deficiency
|
|
Arg1 Deficiency
|
Arginase-1 Deficiency
|
|
Deficiency Of Canavanase
|
Arginase Deficiency Disease
|
|
ARGIN
|
|
|
| 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
|
|
|
| Congenital Fiber-Type Disproportion |
|
Congenital Fiber Type Disproportion
|
Cftdm
|
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
|
Myopathy, Congenital With Fiber-Type Disproportion
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
| 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
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
