| 疾病名称 |
别名 |
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| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Methylmalonic Aciduria And Homocystinuria Type Cblf
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MAHCF
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Methylmalonic Aciduria Due To Vitamin B12-Release Defect
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Vitamin B12 Lysosomal Release Defect
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Cobalamin F Disease
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Cblf
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Methylmalonic Acidemia And Homocystinuria, Cblf Type
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Cobalamin, Defect In Lysosomal Release Of
|
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Vitamin B12 Storage Disease
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Cobalamin F Deficiency
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Methylmalonic Acidemia With Homocystinuria Type Cblf
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Cblf Defect
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Cobalamin F Defect
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Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblf
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Lysosomal Membrane Cobalamin Transporter Deficiency
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Methylmalonic Aciduria With Homocystinuria, Type Cblf
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Methylcobalamin Deficiency Tape F
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Methylmalonic Acidemia And Homocystinuria Cblf Type
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Vitamin B12 Storage Defect
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Aciduria, Methylmalonic, And Homocystinuria, Cblf Type
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| Hepatitis |
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Chronic Hepatitis
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Chronic Persistent Hepatitis
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Acute Hepatitis
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Hepatitis, Chronic
|
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Acute And Subacute Liver Necrosis
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Acute/Subac. Necrosis Of Liver
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Animal Hepatitis
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Hepatitis Chronic
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Hepatitis A
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Hepatitis, Animal
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Hepatitis Due To Toxoplasmosis
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Hepatitis In Toxoplasmosis
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Toxoplasmal Hepatitis
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Chronic Hepatitis, Unspecified
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Chronic Active Hepatitis Nec
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Other Specified Chronic Hepatitis
|
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Chronic Persistent Hepatitis Nec
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Chronic Lobular Hepatitis Nec
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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
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Methylmalonic Aciduria And Homocystinuria Type Cblc
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Cobalamin C Disease
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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
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Methylmalonic Acidemia With Homocystinuria, Type Cblc
|
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Cblc Defect
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Cobalamin C Defect
|
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Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc
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Methylmalonic Aciduria With Homocystinuria, Type 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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Aciduria, Methylmalonic, And Homocystinuria, Cblc Type
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Methylmalonic Acidemia With Homocystinuria
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| Homocystinuria |
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Cystathionine Beta Synthase Deficiency
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Homocysteinemia
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Cbs Deficiency
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Cystathionine Synthase Deficiency
|
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Cystathionine Beta-Synthase Deficiency Disease
|
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| Glossitis |
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Inflammation Of Tongue
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Tongue Inflammation
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Glazed Tongue
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| Megaloblastic Anemia |
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Imerslund-Grasbeck Syndrome
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Igs
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Defect Of Enterocyte Intrinsic Factor Receptor
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Enterocyte Cobalamin Malabsorption
|
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Familial Megaloblastic Anemia
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Megaloblastic Anemia 1
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Selective Cobalamin Malabsorption With Proteinuria
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Imerslund-Gräsbeck Syndrome
|
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Anemia, Megaloblastic
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Grasbeck-Imerslund Syndrome
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Megaloblastic Anaemia
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Mga1 Norwegian Type
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Recessive Hereditary Megaloblastic Anaemia 1
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Recessive Hereditary Megaloblastic Anemia 1
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Rh-Mga1
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Gräsbeck-Imerslund Disease
|
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Pernicious Anemia, Juvenile, Due To Selective Intestinal Malabsorption Of Vitamin B12, With Proteinuria
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Juvenile Pernicious Anemia With Proteinuria Due To Selective Intestinal Malabsorption Of Vitamin B12
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Anemia Megaloblastic
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Megaloblastic Anemia Due To Inborn Errors Of Metabolism
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3-@Methylglutaconic Aciduria, Type I
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|
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| Combined Oxidative Phosphorylation Deficiency 32 |
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| Arthrogryposis Multiplex Congenita-3 |
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| Transcobalamin Ii Deficiency |
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TCN2 DEFICIENCY
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Tc Ii Deficiency
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Transcobalamin Deficiency
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Tc Deficiency
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Inherited Deficiency Of Transcobalamin
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| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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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
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MAHCD
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Methylmalonic Acidemia And Homocystinuria, Cbld Type
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Methylmalonic Aciduria, Cblh Type, Formerly
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Methylmalonic Acidemia, Cblh Type, Formerly
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Methylmalonic Aciduria, Cbld Type, Variant 2
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Cobalamin D Deficiency
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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
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Cbld Defect
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Cobalamin D Defect
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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, Cbla Type |
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Methylmalonic Acidemia Cbla Type
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Methylmalonic Aciduria Cbla Type
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Methylmalonic Acidemia, Cbla Type
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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
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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
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Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla
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Methylmalonic Aciduria Type Cbla
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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
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Aciduria, Methylmalonic, Cbla Type
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Methylmalonic Aciduria Cbla Type
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| Methylmalonic Acidemia |
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Methylmalonic Aciduria
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Mma
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Acidemia, Methylmalonic
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Isolated Methylmalonic Acidemia
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| Organic Acidemia |
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Organic Aciduria
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Disorder Of Organic Acid Metabolism
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Organic Acid Metabolism Disorder
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Organic Acidemias
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Inherited Organic Acidemia
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Organic Acidurias
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Aciduria Organic
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| Gallbladder Papillomatosis |
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| Gaucher Disease, Type Iii |
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Gaucher Disease, Subacute Neuronopathic Type
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Gd Iii
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Gaucher Disease, Chronic Neuronopathic Type
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Gaucher Disease, Juvenile And Adult, Cerebral
|
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Gaucher Disease Type 3
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GD3
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Gaucher'S Disease Type Iii
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Gaucher Disease Type Iii
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Gd 3
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Cerebral Juvenile And Adult Form Of Gaucher Disease
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Chronic Neuronopathic Gaucher Disease
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Gaucher Disease 3
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Cerebral, Juvenile And Adult, Gaucher Disease
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Gaucher Disease Chronic Neuronopathic Type
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Gaucher Disease Type Ii
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Subacute Neuronopathic Gaucher Disease
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Type 3 Gaucher Disease
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Gaucher Disease, Type 3
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Gaucher Disease, Type 2
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| Vitamin B12 Deficiency |
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Cobalamin Deficiency
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Hypocobalaminemia
|
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Vitamin B 12 Deficiency
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Cyanocobalamin Deficiency
|
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Deficiency Of Vitamin B12
|
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| Gm1-Gangliosidosis, Type Iii |
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Gm1 Gangliosidosis Type 3
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GM1G3
|
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Gangliosidosis, Generalized Gm1, Type 3
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Adult-Onset Gm1 Gangliosidosis
|
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Gangliosidosis Gm1 Type 3
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Gangliosidosis Generalized Gm1 Chronic Type
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Gangliosidosis, Generalized Gm1, Adult Type
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Gangliosidosis, Generalized Gm1, Chronic Type
|
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Gangliosidosis, Generalized Gm1, Type Iii
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Adult Gm1 Gangliosidosis
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Beta-Galactosidase Deficiency Type 3
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Gm1-Gangliosidosis 3
|
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Gangliosidosis Generalized Gm1 Type 3
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Gm1-Gangliosidosis Generalized Adult Type
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Gangliosidosis, Gm1 Type Iii
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| Vitamin Metabolic Disorder |
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| Combined Malonic And Methylmalonic Aciduria |
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CMAMMA
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Combined Malonic And Methylmalonic Acidemia
|
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Aciduria, Combined Malonic And Methylmalonic
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| Methylmalonic Aciduria, Cblb Type |
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Methylmalonic Aciduria Cblb Type
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Methylmalonic Acidemia Cblb Type
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Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type
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Methylmalonic Acidemia, Cblb Type
|
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Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type
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Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type
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Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb
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Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb
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Methylmalonic Aciduria Type Cblb
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MMAB
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Methylmalonic Aciduria Type B
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Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B
|
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Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B
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Aciduria, Methylmalonic, Cblb Type
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Methylmalonic Acidemia
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Methylmalonic Aciduria
|
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| Spondylometaphyseal Dysplasia, Corner Fracture Type |
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SMDCF
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Spondylometaphyseal Dysplasia, Sutcliffe Type
|
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Spondylometaphyseal Dysplasia Corner Fracture Type
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Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
|
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Spondylometaphyseal Dysplasia Sutcliffe Type
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Sutcliffe Type Of Spondylometaphyseal Dysplasia
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Spondylometaphyseal Dysplasia - Sutcliffe Type
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Smd, Corner Fractures Type
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Smd, Sutcliffe Type
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Sutcliffe Smd
|
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Dysplasia, Spondylometaphyseal, Corner Fracture Type
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| Propionic Acidemia |
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Ketotic Hyperglycinemia
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Propionyl-Coa Carboxylase Deficiency
|
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Pcc Deficiency
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Propionicacidemia
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Glycinemia, Ketotic
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Hyperglycinemia With Ketoacidosis And Leukopenia
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Ketotic Glycinemia
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Propionic Aciduria
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Prop
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Acidemia, Propionic
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PA-1
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Ketotic Ii Glycinemia
|
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Hyperglycinemia, Ketotic
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Propionic Acidemia Type I
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Propionic Acidemia Type Ii
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PA-2
|
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Propionicaciduria
|
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| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
EDMD4
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Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
|
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Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
|
Emd4
|
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Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant
|
Emery-Dreifuss Muscular Dystrophy 4
|
|
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| Glutamate Formiminotransferase Deficiency |
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Formiminoglutamic Aciduria
|
Formiminotransferase Deficiency
|
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FIGLU-URIA
|
Arakawa Syndrome 1
|
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Formiminoglutamic Acidemia
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Formiminotransferase Cyclodeaminase Deficiency
|
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Formiminotransferase Deficiency Syndrome
|
Ftcd Deficiency
|
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Formiminoglutamicaciduria
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Figluria
|
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| Biotinidase Deficiency |
|
Late-Onset Multiple Carboxylase Deficiency
|
BTD DEFICIENCY
|
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Multiple Carboxylase Deficiency, Late-Onset
|
Multiple Carboxylase Deficiency, Juvenile-Onset
|
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Juvenile-Onset Multiple Carboxylase Deficiency
|
Biotin Deficiency
|
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Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Deficiency Of Biotinidase
|
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Biot
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Carboxylase Deficiency, Multiple, Late-Onset
|
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Late-Onset Mcd
|
Mcd Juvenile Form
|
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Biotin Deficiency Disease
|
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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
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Amino Acid Metabolism Disorders
|
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