| 疾病名称 |
别名 |
|
| 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
|
|
|
| Multiple Carboxylase Deficiency |
|
Mcd
|
Holocarboxylase Synthetase 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
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| Metabolic Acidosis |
|
|
| 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
|
|
|
| Biotin Deficiency |
|
Biotin Deficiency Disease
|
B7 Deficiency
|
|
Biotan Vitamin Deficiency
|
|
|
| 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
|
|
|
| Methylmalonic Acidemia |
|
Methylmalonic Aciduria
|
Mma
|
|
Acidemia, Methylmalonic
|
Isolated Methylmalonic Acidemia
|
|
|
| Neurodegeneration With Brain Iron Accumulation 6 |
|
NBIA6
|
Copan
|
|
Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation
|
Coasy Protein-Associated Neurodegeneration
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 6
|
|
|
| Monocarboxylate Transporter 1 Deficiency |
|
Ketoacidosis Due To Monocarboxylate Transporter-1 Deficiency
|
MCT1D
|
|
Ketosis
|
|
|
| Down Syndrome |
|
Trisomy 21
|
Complete Trisomy 21 Syndrome
|
|
Down'S Syndrome
|
Trisomy 21 Syndrome
|
|
Down'S Syndrome - Trisomy 21
|
Downs Syndrome
|
|
G Trisomy
|
47,Xx,+21
|
|
47,Xy,+21
|
Trisomy G
|
|
Down Syndrome, Susceptibility To
|
Chromosome 21 Trisomy
|
|
Trisomy 21 Nos
|
Abnormal Autosomes 21
|
|
|
| Alpha-Methylacetoacetic Aciduria |
|
Beta-Ketothiolase Deficiency
|
3-Ketothiolase Deficiency
|
|
3-Oxothiolase Deficiency
|
Mitochondrial Acetoacetyl-Coa Thiolase Deficiency
|
|
Alpha-Methylacetoaceticaciduria
|
Mat Deficiency
|
|
T2 Deficiency
|
2-Methyl-3-Hydroxybutyricacidemia
|
|
Beta Ketothiolase Deficiency
|
Pseudo-Zellweger Syndrome
|
|
2-Methyl-3-Hydroxybutyric Acidemia
|
3-Ktd Deficiency
|
|
Peroxisomal Thiolase Deficiency
|
2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency
|
|
3-Alpha-Oxothiolase Deficiency
|
Methylacetoacetyl-Coenzyme A Thiolase Deficiency
|
|
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated
|
Β-Ketothiolase Deficiency
|
|
Alpha Methylacetoacetic Aciduria
|
Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency
|
|
Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency
|
3KTD
|
|
Aciduria, Alpha-Methylacetoacetic
|
Deficiency Of Acetyl-Coa Acetyltransferase
|
|
Deficiency Of Acetyl-Coa Acyltransferase
|
Hepatic Methionine Adenosyltransferase Deficiency
|
|
Bifunctional Peroxisomal Enzyme Deficiency
|
|
|
| Orofaciodigital Syndrome Viii |
|
Edwards Syndrome
|
Trisomy 18
|
|
Complete Trisomy 18 Syndrome
|
OFD8
|
|
Orofaciodigital Syndrome 8
|
Trisomy 18 Syndrome
|
|
Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis
|
E3 Trisomy
|
|
Oral-Facial-Digital Syndrome Type 8
|
Orofaciodigital Syndrome Type 8
|
|
Ofds Viii
|
Oral-Facial-Digital Syndrome, Type Viii
|
|
Ofd Syndrome 8
|
Ofds 8
|
|
Oral Facial Digital Syndrome 8
|
Oral Facial Digital Syndrome Type 8
|
|
18 Trisomy
|
Chromosome 18 Trisomy
|
|
Trisomy 16-18
|
Trisomy E
|
|
Trisomy E Syndrome
|
Chromosome 18 Duplication
|
|
Oral-Facial-Digital Syndrome, Edwards Type
|
Orofaciodigital Syndrome, Edwards Type
|
|
Chromosome 18, Trisomy
|
Cleft Lip/Palate With Abnormal Thumbs And Microcephaly
|
|
Trisomy 18 Chromosome
|
Abnormal Autosomes 18
|
|
|
| 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
|
|
|
| Patau Syndrome |
|
Trisomy 13
|
Complete Trisomy 13 Syndrome
|
|
Trisomy 13 Syndrome
|
D1 Trisomy
|
|
Patau'S Syndrome
|
Complete Trisomy 13
|
|
Chromosome 13, Trisomy 13 Complete
|
D Trisomy Syndrome
|
|
Bartholin-Patau Syndrome
|
Chromosome 13 Duplication
|
|
D1 Trisomy Syndrome
|
D>1< Trisomy Syndrome
|
|
Patau
|
Chromosome 13 Trisomy
|
|
Abnormal Autosomes 13
|
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Vlcad Deficiency
|
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Lcad Deficiency
|
|
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
ACADVLD
|
Acadl Deficiency
|
|
Vlcadd
|
Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Acadvl
|
Acyl-Coa Dehydrogenase Very Long Chain Deficiency
|
|
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency
|
Vlcad-C
|
|
Vlcad-H
|
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
|
|
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency
|
Acyl-Coa Dehydrogenase Long-Chain Deficiency
|
|
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase
|
Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
|
Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| 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
|
|
|
