| 疾病名称 |
别名 |
|
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Cbld Type, Variant 1
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Methylmalonic Aciduria And Homocystinuria Type Cbld
|
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Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2
|
MAHCD
|
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Methylmalonic Acidemia And Homocystinuria, Cbld Type
|
Methylmalonic Aciduria, Cblh Type, Formerly
|
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Methylmalonic Acidemia, Cblh Type, Formerly
|
Methylmalonic Aciduria, Cbld Type, Variant 2
|
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Cobalamin D Deficiency
|
Methylcobalamin Deficiency Type Cbldv1
|
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Functional Methionine Synthase Deficiency Type Cbldv1
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Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2
|
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Methylmalonic Acidemia With Homocystinuria, Type Cbld
|
Cbld Defect
|
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Cobalamin D Defect
|
Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld
|
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Methylmalonic Aciduria With Homocystinuria, Type Cbld
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Homocystinuria Cbld Variant 1
|
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Methylmalonic Acidemia And Homocystinuria Cbld Type
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Methylmalonic Aciduria And Homocystinuria Cbld-Combined
|
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Methylmalonic Aciduria And Homocystinuria Cbld Original
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Methylmalonic Aciduria Cbld Variant 2
|
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Aciduria, Methylmalonic, And Homocystinuria, Cbld Type
|
|
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| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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MAHCC
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Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase
|
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Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic
|
Methylmalonic Aciduria And Homocystinuria Type Cblc
|
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Cobalamin C Disease
|
Methylmalonic Acidemia With Homocystinuria Cblc
|
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Methylmalonic Acidemia And Homocystinuria, Cblc Type
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Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive
|
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Cobalamin C Deficiency
|
Methylmalonic Acidemia With Homocystinuria, Type Cblc
|
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Cblc Defect
|
Cobalamin C Defect
|
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Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc
|
Methylmalonic Aciduria With Homocystinuria, Type Cblc
|
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Methylmalonic Acidemia And Homocystinuria Cblc Type
|
Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive
|
|
Aciduria, Methylmalonic, And Homocystinuria, Cblc Type
|
Methylmalonic Acidemia With Homocystinuria
|
|
|
| Homocystinuria |
|
Cystathionine Beta Synthase Deficiency
|
Homocysteinemia
|
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Cbs Deficiency
|
Cystathionine Synthase Deficiency
|
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Cystathionine Beta-Synthase Deficiency Disease
|
|
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| Megaloblastic Anemia |
|
Imerslund-Grasbeck Syndrome
|
Igs
|
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Defect Of Enterocyte Intrinsic Factor Receptor
|
Enterocyte Cobalamin Malabsorption
|
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Familial Megaloblastic Anemia
|
Megaloblastic Anemia 1
|
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Selective Cobalamin Malabsorption With Proteinuria
|
Imerslund-Gräsbeck Syndrome
|
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Anemia, Megaloblastic
|
Grasbeck-Imerslund Syndrome
|
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Megaloblastic Anaemia
|
Mga1 Norwegian Type
|
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Recessive Hereditary Megaloblastic Anaemia 1
|
Recessive Hereditary Megaloblastic Anemia 1
|
|
Rh-Mga1
|
Gräsbeck-Imerslund Disease
|
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Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria
|
Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
|
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Anemia Megaloblastic
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
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3-@Methylglutaconic Aciduria, Type I
|
|
|
| Combined Malonic And Methylmalonic Aciduria |
|
CMAMMA
|
Combined Malonic And Methylmalonic Acidemia
|
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Aciduria, Combined Malonic And Methylmalonic
|
|
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| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic Acidemia Cbla Type
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Methylmalonic Aciduria Cbla Type
|
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Methylmalonic Acidemia, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cbla Type
|
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Methylmalonic Aciduria, Vitamin B12-Responsive, Cbla Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive Due To A Defect In Synthesis Of Adenosylcobalamin Cb1a Type
|
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Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla
|
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla
|
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Methylmalonic Aciduria Type Cbla
|
MMAA
|
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Methylmalonic Aciduria Type A
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Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl A
|
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Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl A
|
Aciduria, Methylmalonic, Cbla Type
|
|
Methylmalonic Aciduria Cbla Type
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
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Aciduria Organic
|
|
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| Transcobalamin Ii Deficiency |
|
TCN2 DEFICIENCY
|
Tc Ii Deficiency
|
|
Transcobalamin Deficiency
|
Tc Deficiency
|
|
Inherited Deficiency Of Transcobalamin
|
|
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| 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
|
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Ketotic Glycinemia
|
Propionic Aciduria
|
|
Prop
|
Acidemia, Propionic
|
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PA-1
|
Ketotic Ii Glycinemia
|
|
Hyperglycinemia, Ketotic
|
Propionic Acidemia Type I
|
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Propionic Acidemia Type Ii
|
PA-2
|
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Propionicaciduria
|
|
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| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
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Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
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| Vitamin B12 Deficiency |
|
Cobalamin Deficiency
|
Hypocobalaminemia
|
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Vitamin B 12 Deficiency
|
Cyanocobalamin Deficiency
|
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Deficiency Of Vitamin B12
|
|
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| Vitamin Metabolic Disorder |
|
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| Sulfite Oxidase Deficiency, Isolated |
|
Sulfite Oxidase Deficiency
|
Sulfocysteinuria
|
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Isolated Sulfite Oxidase Deficiency
|
ISOD
|
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Encephalopathy Due To Sulfite Oxidase Deficiency
|
|
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| Hypermethioninemia |
|
Hepatic Methionine Adenosyltransferase Deficiency
|
Deficiency Of Methionine Adenosyltransferase
|
|
Glycine N-Methyltransferase Deficiency
|
Met
|
|
S-Adenosylhomocysteine Hydrolase Deficiency
|
Gnmt Deficiency
|
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Mat Deficiency
|
Methionine Adenosyltransferase Deficiency
|
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Methioninemia
|
Deficiency Of Acetyl-Coa Acetyltransferase
|
|
|
| Isovaleric Acidemia |
|
Isovaleric Acid Coa Dehydrogenase Deficiency
|
Isovaleryl-Coa Dehydrogenase Deficiency
|
|
IVA
|
Ivd Deficiency
|
|
Acidemia, Isovaleric
|
Isovaleric Aciduria
|
|
Isovaleryl Coa Carboxylase Deficiency
|
Isovaleric Acid-Coa Dehydrogenase Deficiency
|
|
|
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic Aciduria Cblb Type
|
Methylmalonic Acidemia Cblb Type
|
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type
|
Methylmalonic Acidemia, Cblb Type
|
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type
|
Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
|
|
Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb
|
Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
|
|
Methylmalonic Aciduria Type Cblb
|
MMAB
|
|
Methylmalonic Aciduria Type B
|
Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
|
|
Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B
|
Aciduria, Methylmalonic, Cblb Type
|
|
Methylmalonic Acidemia
|
Methylmalonic Aciduria
|
|
|
| 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
|
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2-Methyl-3-Hydroxybutyric Acidemia
|
3-Ktd Deficiency
|
|
Peroxisomal Thiolase Deficiency
|
2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency
|
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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
|
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Deficiency Of Acetyl-Coa Acyltransferase
|
Hepatic Methionine Adenosyltransferase Deficiency
|
|
Bifunctional Peroxisomal Enzyme Deficiency
|
|
|
| Nemaline Myopathy 2 |
|
NEM2
|
Nemaline Myopathy 2, Autosomal Recessive
|
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Nemaline Myopathy, Type 2
|
Neb-Related Nemaline Myopathy
|
|
Myopathy, Nemaline, Type 2
|
|
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| 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
|
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Ga I
|
Glutaricaciduria, Type I
|
|
Glutaryl-Coenzyme A Dehydrogenase Deficiency
|
Glutaric Academia Type 1
|
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Glutaric Aciduria Type I
|
Ga-1
|
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Gcdh Deficiency
|
Ga 1
|
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Glutaric Acidemia 1
|
Gcdhd
|
|
Glutaric Aciduria, Type I
|
Glutaricaciduria I
|
|
Ga-I
|
Glutaricaciduria, Type 1
|
|
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| 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
|
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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
|
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Intermediate Maple Syrup Urine Disease
|
Maple Syrup Urine Disease Type 1a
|
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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
|
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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
|
|
|
