| 疾病名称 |
别名 |
|
| 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
|
|
|
| Biotin Deficiency |
|
Biotin Deficiency Disease
|
B7 Deficiency
|
|
Biotan Vitamin Deficiency
|
|
|
| Multiple Carboxylase Deficiency |
|
Mcd
|
Holocarboxylase Synthetase Deficiency
|
|
|
| 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
|
|
|
| Seborrheic Dermatitis |
|
Seborrhoeic Dermatitis
|
Seborrhea
|
|
Seborrhoeic Eczema
|
Skin Seborrheic
|
|
Dermatitis, Seborrheic
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| 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
|
|
|
| Dermatitis |
|
Eczema
|
Skin Inflammation
|
|
Inflammatory Dermatosis
|
|
|
| Metabolic Acidosis |
|
|
| 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
|
|
|
| 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
|
|
|
| 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]
|
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
Optic Atrophy
|
3-Methylglutaconic Aciduria Type 3
|
|
Costeff Syndrome
|
Mga3
|
|
Costeff Optic Atrophy Syndrome
|
Optic Atrophy Plus Syndrome
|
|
Infantile Optic Atrophy With Chorea And Spastic Paraplegia
|
3-Methylglutaconic Aciduria Type Iii
|
|
Autosomal Recessive Optic Atrophy Plus Syndrome
|
Autosomal Recessive Optic Atrophy Type 3
|
|
Opa3 Defect
|
MGCA3
|
|
Mga, Type Iii
|
Iraqi Jewish Optic Atrophy Plus
|
|
Mga Type Iii
|
Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
|
|
Iraqi-Jewish 'Optic Atrophy Plus'
|
Optic Atrophy 3, Autosomal Recessive
|
|
Opa3, Autosomal Recessive
|
Opa3-Related 3-Methylglutaconic Aciduria
|
|
Iraqi-Jewish Optic Atrophy Plus
|
Atrophy Of Optic Disc
|
|
3-Alpha Methylglutaconic Aciduria Type Iii
|
Optic Atrophy 3
|
|
Optic Atrophy Infantile With Chorea And Spastic Paraplegia
|
Autosomal Recessive Opa3
|
|
Autosomal Recessive Optic Atrophy 3
|
3-Methylglutaconic Aciduria 3
|
|
3-Alpha-Methylglutaconic Aciduria Type 3
|
Optic Atrophy 3 Autosomal Recessive
|
|
Atrophy, Optic
|
Atrophy, Optic, Plus Syndrome
|
|
Optic Nerve Atrophy
|
Primary Optic Atrophy
|
|
Oa - [Optic Atrophy]
|
Second Cranial Nerve Atrophy
|
|
Second Cranium Nerve Atrophy
|
|
|
| Tyrosinemia |
|
Hypertyrosinemia
|
Tyrosinemias
|
|
Hereditary Tyrosinemia
|
Hypertyrosinaemia
|
|
Tyrosinaemia
|
Hereditary Hypertyrosinemia
|
|
|
| Glycogen Storage Disease |
|
Glycogenosis
|
Glycogenoses
|
|
Gsd
|
Storage Disease, Glycogen
|
|
Gsd - [Glycogen Storage Disease]
|
Glycogen Thesaurismosis
|
|
Diffuse Glycogenosis
|
Generalised Glycogen Storage Disease
|
|
Generalised Glycogenosis
|
Generalised Glycogen Storage Disease Of Infants
|
|
Glycogen Synthase Deficiency
|
|
|
| Homocystinuria |
|
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
|
Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
|
Cystathionine Beta-Synthase Deficiency Disease
|
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
3-Methylcrotonylglycinuria
|
Mcc Deficiency
|
|
Methylcrotonyl-Coa Carboxylase Deficiency
|
Bmcc Deficiency
|
|
3-Mcc Deficiency
|
3mcc
|
|
Mccd
|
3mcc Deficiency
|
|
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency
|
3-Mcc
|
|
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency
|
Deficiency Of Methylcrotonoyl-Coa Carboxylase
|
|
3-Methyl Crotonyl-Coa Carboxylase Deficiency
|
3-Methylcrotonyl Coa Carboxylase 1 Deficiency
|
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital Adrenal Hyperplasia
|
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
|
|
Congenital Lipoid Adrenal Hyperplasia
|
Lipoid Cah
|
|
Lipoid Adrenal Hyperplasia
|
Adrenal Hyperplasia 1
|
|
Cah
|
Clah
|
|
LCAH
|
Adrenal Hyperplasia I
|
|
Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism
|
Congenital Adrenal Hyperplasia Lipoid
|
|
Adrenal Hyperplasia, Congenital
|
Congenital Adrenal Hyperplasia, Lipoid
|
|
AH1
|
Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
|
|
Adrenal Hyperplasia Congenital
|
Hyperplasia, Adrenal, Lipoid, Congenital
|
|
Congenital Adrenogenital Disorders Associated With Enzyme Deficiency
|
Congenital Adrenal Cortical Hyperplasia
|
|
Congenital Adrenal Gland Hyperplasia
|
Congenital Adrenogenital Syndrome
|
|
Congenital Hyperadrenocorticism
|
Congenital Adrenogenitalism
|
|
Congenital Female Adrenal Pseudohermaphroditism
|
|
|
| Optic Nerve Disease |
|
Optic Neuropathy
|
Disorder Of The Second Nerve
|
|
Optic Nerve Disorder
|
Optic Nerve
|
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
| Congenital Hypothyroidism |
|
Cretinism
|
Neonatal Hypothyroidism
|
|
Ch
|
Cht
|
|
Congenital Myxedema
|
Myxedema, Congenital
|
|
Endemic Cretinism
|
Congenital Iodine-Deficiency Syndrome
|
|
Fetal Iodine Deficiency Syndrome
|
Congenital Iodine-Deficiency Hypothyroidism Nos
|
|
|
| Mixed Cerebral Palsy |
|
|
| Hemoglobinopathy |
|
|
| 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
|
|
|
| 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
|
|
|
| Alopecia |
|
|
| Cerebral Creatine Deficiency Syndrome |
|
Deficiency, Cerebral Creatine, Syndrome
|
|
|
| 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
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| 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
|
|
|
| Phosphoserine Aminotransferase Deficiency |
|
Psat Deficiency
|
PSATD
|
|
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
|
Psat Deficiency, Infantile/Juvenile Form
|
|
Deficiency, Phosphoserine Aminotransferase
|
|
|
| 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
|
|
|
| Hypotonia |
|
|
| 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
|
|
|
| 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
|
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Metabolic Syndrome X
|
Metabolic Syndrome
|
|
AOMS1
|
Dysmetabolic Syndrome X
|
|
Metabolic Disease
|
Abdominal Obesity Metabolic Syndrome
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Glutaric Acidemia I |
|
Glutaryl-Coa Dehydrogenase Deficiency
|
GA1
|
|
Glutaric Acidemia Type 1
|
Glutaric Aciduria 1
|
|
Glutaric Aciduria Type 1
|
Glutaric Acidemia Type I
|
|
Glutaric Aciduria, Type 1
|
Glutaric Aciduria I
|
|
Ga I
|
Glutaricaciduria, Type I
|
|
Glutaryl-Coenzyme A Dehydrogenase Deficiency
|
Glutaric Academia Type 1
|
|
Glutaric Aciduria Type I
|
Ga-1
|
|
Gcdh Deficiency
|
Ga 1
|
|
Glutaric Acidemia 1
|
Gcdhd
|
|
Glutaric Aciduria, Type I
|
Glutaricaciduria I
|
|
Ga-I
|
Glutaricaciduria, Type 1
|
|
|
| Lactic Acidosis |
|
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
| L-2-Hydroxyglutaric Aciduria |
|
L-2-Hydroxyglutaric Acidemia
|
L2HGA
|
|
L-2-Hga
|
Aciduria, L-2-Hydroxyglutaric
|
|
Combined D-2- And L-2-Hydroxyglutaric Aciduria
|
|
|
| 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
|
|
|
| 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
|
|
|
| Early Infantile Epileptic Encephalopathy |
|
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
|
|
