| 疾病名称 |
别名 |
|
| Sandhoff Disease |
|
Total Hexosaminidase Deficiency
|
Hexosaminidases A And B Deficiency
|
|
Sandhoff Disease, Infantile, Juvenile, And Adult Forms
|
Beta-Hexosaminidase-Beta-Subunit Deficiency
|
|
Gm2 Gangliosidosis, Type 2
|
Hexosaminidase A And B Deficiency Disease
|
|
Sandhoff-Jatzkewitz-Pilz Disease
|
Gm2 Gangliosidosis, Type Ii
|
|
Sandhoff Disease, Infantile Form
|
Sandhoff Disease, Adult Form
|
|
Sandhoff Disease, Juvenile Form
|
Gm2-Gangliosidosis, Type Ii
|
|
Sandhoff Jatzkewitz Disease
|
Type Ii Gm2 Gangliosidosis
|
|
Gm2 Gangliosidosis, 0 Variant
|
Gm2 Gangliosidosis 0 Variant
|
|
Hexosaminidases A And B Deficiency, Infantile Form
|
Infantile Gm2 Gangliosidosis 0 Variant
|
|
Adult Gm2 Gangliosidosis 0 Variant
|
Hexosaminidases A And B Deficiency, Adult Form
|
|
Hexosaminidases A And B Deficiency, Juvenile Form
|
Juvenile Gm2 Gangliosidosis 0 Variant
|
|
Gm2-Gangliosidosis 2
|
GM2G2
|
|
Hexosaminidase A And B Deficiency
|
Sd
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| Gangliosidosis |
|
|
| Tay-Sachs Disease |
|
Hexosaminidase A Deficiency
|
TSD
|
|
Hexa Deficiency
|
Gm2 Gangliosidosis, Type 1
|
|
Hexosaminidase Alpha-Subunit Deficiency
|
Gm2-Gangliosidosis, Several Forms
|
|
Gm2-Gangliosidosis, B, B1, Ab Variant
|
B Variant Gm2 Gangliosidosis
|
|
Sphingolipidosis, Tay-Sachs
|
Gm2-Gangliosidosis, Type I
|
|
B Variant Gm2-Gangliosidosis
|
Hex A Pseudodeficiency
|
|
Hexa Disorders
|
Beta-Hexosaminidase A Deficiency
|
|
Gm2 Gangliosidosis, Type I
|
Gangliosidosis Gm2 , Type 1
|
|
Gm2 Gangliosidosis, B, B1 Variant
|
Gm2-Gangliosidosis 1
|
|
GM2G1
|
Gm2-Gangliosidosis B Variant
|
|
Tay-Sachs Disease Pseudo-Ab Variant
|
Tay-Sachs Disease Variant B1
|
|
Gangliosidoses, Gm2
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Infectious Anterior Uveitis |
|
Secondary Infected Iridocyclitis
|
Infectious Secondary Iridocyclitis
|
|
Secondary Iridocyclitis, Infectious
|
|
|
| Gm2-Gangliosidosis, Ab Variant |
|
Hexosaminidase Activator Deficiency
|
Tay-Sachs Disease, Ab Variant
|
|
Gm2 Gangliosidosis, Ab Variant
|
Gm2 Activator Deficiency
|
|
Tay-Sachs Disease, Variant Ab
|
Tay-Sachs Disease Ab Variant
|
|
Ab Variant Gm2-Gangliosidosis
|
Tay-Sachs Variant Ab
|
|
Ab Variant
|
Activator Deficiency/Gm2 Gangliosidosis
|
|
Activator-Deficient Tay-Sachs Disease
|
Gm2 Activator Deficiency Disease
|
|
Gm2 Gangliosidosis, Type Ab
|
Gm2-Gangliosidosis Ab
|
|
GM2GAB
|
Gm2-Gangliosidosis Ab Variant
|
|
Gangliosidosis Gm2 Ab Variant
|
Gm2-Gangliosidosis, Variant Ab
|
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
Mucopolysaccharidosis
|
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
|
|
MPSPS
|
Mucopolysaccharidoses
|
|
Mps
|
Mucopolysaccharidosis-Like Plus Disease
|
|
Disorders Of Glycosaminoglycan Metabolism
|
|
|
| Gm1-Gangliosidosis, Type Iii |
|
Gm1 Gangliosidosis Type 3
|
GM1G3
|
|
Gangliosidosis, Generalized Gm1, Type 3
|
Adult-Onset Gm1 Gangliosidosis
|
|
Gangliosidosis Gm1 Type 3
|
Gangliosidosis Generalized Gm1 Chronic Type
|
|
Gangliosidosis, Generalized Gm1, Adult Type
|
Gangliosidosis, Generalized Gm1, Chronic Type
|
|
Gangliosidosis, Generalized Gm1, Type Iii
|
Adult Gm1 Gangliosidosis
|
|
Beta-Galactosidase Deficiency Type 3
|
Gm1-Gangliosidosis 3
|
|
Gangliosidosis Generalized Gm1 Type 3
|
Gm1-Gangliosidosis Generalized Adult Type
|
|
Gangliosidosis, Gm1 Type Iii
|
|
|
| Gallbladder Papillomatosis |
|
|
| 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
|
|
|
| Sphingolipidosis |
|
|
| Gm1-Gangliosidosis, Type Ii |
|
Gm1 Gangliosidosis Type 2
|
GM1G2
|
|
Gangliosidosis, Generalized Gm1, Type 2
|
Juvenile Gm1 Gangliosidosis
|
|
Gangliosidosis Generalized Gm1 Type 2
|
Gangliosidosis, Generalized Gm1, Juvenile Type
|
|
Gangliosidosis, Generalized Gm1, Type Ii
|
Gangliosidosis Generalized Gm1 Juvenile Type
|
|
Late-Infantile Gm1 Gangliosidosis
|
Gm1-Gangliosidosis 2
|
|
Gangliosidosis Generalized Gm1 Late Infantile Type
|
Gm1-Gangliosidosis Generalized Juvenile Type
|
|
Gangliosidosis, Gm1, Type Ii
|
|
|
| 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]
|
|
|
| Metachromatic Leukodystrophy |
|
Arylsulfatase A Deficiency
|
MLD
|
|
Arsa Deficiency
|
Sulfatide Lipidosis
|
|
Metachromatic Leukoencephalopathy
|
Cerebral Sclerosis, Diffuse, Metachromatic Form
|
|
Cerebroside Sulfatase Deficiency
|
Leukodystrophy, Metachromatic
|
|
Pseudoarylsulfatase A Deficiency
|
Leukodystrophy Metachromatic
|
|
Sulfatidosis
|
Metachromatic Leukodystrophy, Late Infantile
|
|
Metachromatic Leukodystrophy Variant
|
Deficiency Of Cerebroside-Sulfatase
|
|
Scholz Cerebral Sclerosis
|
Sulfatide Lipoidosis
|
|
Cerebral Sclerosis Diffuse Metachromatic Form
|
Arylsulfatase A Deficiency Disease
|
|
Cerebroside Sulphatase Deficiency Disease
|
Greenfield Disease
|
|
Metachromatic Leukodystrophy, Adult
|
Metachromatic Leukodystrophy, Juvenile
|
|
Leukodystrophy Metachromatic Adult
|
Leukodystrophy Metachromatic Juvenile
|
|
Leukodystrophy Metachromatic Late Infantile
|
Metachromatic Leukodystrophy, Adult Type
|
|
Metachromatic Leukodystrophy, Juvenile Type
|
Metachromatic Leukodystrophy, Infant
|
|
Greenfield'S Disease
|
|
|
