| 疾病名称 |
别名 |
|
| 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
|
|
|
| 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
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| Gangliosidosis |
|
|
| 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
|
|
|
| Mucolipidosis Ii Alpha/Beta |
|
I-Cell Disease
|
Mucolipidosis Type Ii
|
|
Mucolipidosis Ii
|
Icd
|
|
Inclusion Cell Disease
|
Inclusion-Cell Disease
|
|
I Cell Disease
|
Mucolipidosis 2
|
|
MLII
|
Ml Ii
|
|
Ml Ii Alpha/Beta
|
Gnpta
|
|
Leroy Disease
|
Ml 2
|
|
Ml Disorder Type 2
|
N-Acetylglucosamine 1phosphotransferase Deficiency
|
|
Mucolipidosis Type Ii Alpha/Beta
|
N-Acetylglucosamine 1-Phosphotransferase Deficiency
|
|
Deficiency Of N-Acetylglucosamine-1-Phosphotransferase
|
Mucolipidosis, Type Ii, Alpha/Beta
|
|
Ml2
|
Type Ii Mucolipidosis
|
|
|
| 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
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2v |
|
CMT2V
|
Charcot-Marie-Tooth Disease Axonal Type 2v
|
|
Charcot-Marie-Tooth Neuropathy, Type 2v
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v
|
|
Charcot-Marie-Tooth Neuropathy Type 2v
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation
|
|
Hereditary Adult-Onset Painful Axonal Polyneuropathy
|
Charcot-Marie-Tooth Disease 2v
|
|
|
| Kanzaki Disease |
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
|
Naga Deficiency Type 2
|
|
Schindler Disease, Type Ii
|
Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency
|
|
Schindler Disease Type 2
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset
|
Naga Deficiency, Type Ii
|
|
Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset
|
KANZD
|
|
Naga Deficiency Type Ii
|
Schindler Disease Type Ii
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Median Rhomboid Glossitis |
|
Persistent Tuberculum Impar
|
Glossitis Rhomboidea Mediana
|
|
Superficial Midline Glossitis
|
|
|
| Sphingolipidosis |
|
|
| Gm1 Gangliosidosis |
|
Beta-Galactosidase Deficiency
|
Gangliosidosis Gm1
|
|
Deficiency Of Beta-Galactosidase
|
Beta Galactosidase 1 Deficiency
|
|
Beta-Galactosidosis
|
Glb 1 Deficiency
|
|
Beta-Galactosidase-1 Deficiency
|
Beta-Galactosidase-1 Deficiency
|
|
Glb1 Deficiency
|
Landing Disease
|
|
Gangliosidosis, Gm1
|
|
|
| Farber Lipogranulomatosis |
|
Farber Disease
|
Acid Ceramidase Deficiency
|
|
Ceramidase Deficiency
|
Ac Deficiency
|
|
N-Laurylsphingosine Deacylase Deficiency
|
Farber'S Disease
|
|
FRBRL
|
Farber'S Lipogranulomatosis
|
|
Acylsphingosine Deacylase Deficiency
|
Farber-Uzman Syndrome
|
|
Acy
|
|
|
| Mongolian Spot |
|
|
| Mucopolysaccharidosis, Type Ix |
|
Mucopolysaccharidosis Type Ix
|
Hyaluronidase Deficiency
|
|
MPS9
|
Mps Ix
|
|
Mucopolysaccharidosis Ix
|
Mpsix
|
|
Mucopolysaccharidosis Type 9
|
Mucopolysaccharidosis 9
|
|
|
| Schindler Disease |
|
Alpha-N-Acetylgalactosaminidase Deficiency
|
Naga Deficiency
|
|
Alpha-Galactosidase B Deficiency
|
Alpha-Galnac Deficiency, Schindler Type
|
|
Alpha-Naga Deficiency
|
Angiokeratoma Corporis Diffusum-Glycopeptiduria
|
|
Galb Deficiency
|
Kanzaki Disease
|
|
Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum
|
Neuroaxonal Dystrophy, Schindler Type
|
|
Neuronal Axonal Dystrophy, Schindler Type
|
Schindler Disease, Type I
|
|
Schindler Disease, Type Ii
|
|
|
| Niemann-Pick Disease, Type C2 |
|
NPC2
|
Niemann-Pick Disease Type C2
|
|
Niemann-Pick C2 Disease
|
Niemann-Pick Disease C2
|
|
|
| Hairy Tongue |
|
Overgrowth Of Filiform Papillae
|
Tongue, Hairy
|
|
|
| Niemann-Pick Disease, Type A |
|
Niemann-Pick Disease Type A
|
Sphingomyelin Lipidosis
|
|
Sphingomyelinase Deficiency
|
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
|
|
Acid Sphingomyelinase Deficiency, Neurovisceral Type
|
Asmd, Neurovisceral Type
|
|
Infantile Neurovisceral Acid Sphingomyelinase Deficiency
|
Infantile Neurovisceral Asmd
|
|
Npd-A
|
Niemann-Pick Disease A
|
|
NPDA
|
Classical Niemann-Pick Disease
|
|
Niemann-Pick Disease Acute Neuronopathic Form
|
Niemann-Pick Disease Acute Neurovisceral Form
|
|
Niemann-Pick Disease Classical Infantile Form
|
Niemann-Pick Disease Intermediate Protracted Neurovisceral
|
|
Niemann-Pick Disease Neuronopathic Type
|
Niemann-Pick Disease Type I
|
|
Npa
|
Niemann-Pick Diseases
|
|
|
| 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
|
|
|
| Niemann-Pick Disease |
|
Sphingomyelin/Cholesterol Lipidosis
|
Niemann-Pick Diseases
|
|
Lipoid Histiocytosis
|
Sphingomyelin Lipidosis
|
|
Sphingomyelinase Deficiency Disease
|
Lipid Histiocytosis
|
|
Neuronal Cholesterol Lipidosis
|
Neuronal Lipidosis
|
|
Npd
|
Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease, Type A
|
|
|
| Mucolipidosis |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
Hereditary Ceroid Lipofuscinosis
|
Batten Disease
|
|
Ncl
|
Neuronal Ceroid-Lipofuscinoses
|
|
Lipofuscinosis, Ceroid, Neuronal
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Cerebromacular Dystrophy
|
Cerebromacular Degeneration
|
|
Ceroid-Lipofuscinosis
|
Ncl - [Neuronal Ceroid Lipofuscinosis]
|
|
Amaurotic Familial Idiocy
|
Amaurotic Idiocy
|
|
Amaurotic Idiot
|
Neuronal Lipofuscinosis
|
|
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
|
|
|
