| 疾病名称 |
别名 |
|
| 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
|
|
|
| Schindler Disease, Type I |
|
Schindler Disease Type 1
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
|
|
Schindler Disease Type 3
|
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
|
|
Naga Deficiency Type 3
|
Neuroaxonal Dystrophy, Schindler Type
|
|
Naga Deficiency Type 1
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type I
|
|
Naga Deficiency, Type I
|
Schindler Disease, Type Iii
|
|
N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type Iii
|
Alpha-N-Acetylgalactosaminidase Deficiency, Type 1
|
|
Naga Deficiency, Type 1
|
Schindler Disease Type I
|
|
Schindler Disease
|
SCHIND
|
|
Schindler Disease, Type 3
|
Schindler Disease, Type 1
|
|
|
| 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
|
|
|
| Angiokeratoma |
|
Angiokeratoma Of Skin
|
Cutaneous Angiokeratoma
|
|
Skin Angiokeratoma
|
|
|
| Neuroaxonal Dystrophy |
|
|
| Fabry Disease |
|
Alpha-Galactosidase A Deficiency
|
Anderson-Fabry Disease
|
|
Angiokeratoma Corporis Diffusum
|
Ceramide Trihexosidase Deficiency
|
|
Fabry Disease, Cardiac Variant
|
Fabry'S Disease
|
|
Hereditary Dystopic Lipidosis
|
Gla Deficiency
|
|
FD
|
Alpha Galactosidase Deficiency
|
|
Deficiency Of Melibiase
|
Angiokeratoma, Diffuse
|
|
Angiokeratoma Diffuse
|
Diffuse Angiokeratoma
|
|
|
| Fucosidosis |
|
Alpha-L-Fucosidase Deficiency
|
Fucosidase Deficiency Disease
|
|
A-Fucosidase Deficiency
|
Alpha Fucosidase Deficiency
|
|
Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues
|
Alpha-Fucosidase Deficiency
|
|
Fucosidase Deficiency
|
FUCA1D
|
|
|
| Neurodegeneration With Brain Iron Accumulation 2a |
|
Infantile Neuroaxonal Dystrophy
|
Plan
|
|
Seitelberger Disease
|
Inad
|
|
Infantile Neuroaxonal Dystrophy 1
|
Inad1
|
|
Pla2g6-Associated Neurodegeneration
|
NBIA2A
|
|
Neuroaxonal Dystrophy, Infantile
|
Neurodegeneration, Pla2g6-Associated
|
|
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
|
Phospholipase A2-Associated Neurodegeneration
|
|
Nbia2
|
Pla2g6-Related Disorders
|
|
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy
|
Karak Syndrome, Included
|
|
Nbia2b
|
Neuroaxonal Dystrophy, Atypical
|
|
Neurodegeneration With Brain Iron Accumulation 2b
|
Nbia, Pla2g6-Related
|
|
Seitelberger'S Disease
|
Neurodegeneration Pla2g6-Associated
|
|
Dystrophy, Neuroaxonal, Infantile
|
Neurodegeneration, With Brain Iron Accumulation, Type 2a
|
|
Neuroaxonal Dystrophies
|
Neurodegeneration With Brain Iron Accumulation 2
|
|
|
| Glycoproteinosis |
|
Sialidosis
|
Mucolipidosis Type I
|
|
Mucolipidoses
|
Cherry Red Spot Myoclonus Syndrome
|
|
Mucolipidosis I
|
Myoclonus Cherry Red Spot Syndrome
|
|
Type I Mucolipidosis
|
Lipomucopolysaccharidosis
|
|
Disorders Of Glycoprotein Metabolism
|
Glycoprotein Storage Disorder
|
|
|
| Skin Hemangioma |
|
Angioma Of The Skin
|
Angiomatous Naevus Of Skin
|
|
Hemangioma Of Skin
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| Liver Failure, Infantile, Transient |
|
Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins
|
Transient Infantile Liver Failure
|
|
LFIT
|
Acute Infantile Liver Failure
|
|
Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins
|
Liver Failure, Transient Infantile
|
|
Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect
|
Liver Failure, Acute Infantile
|
|
Failure, Liver, Transient, Infantile
|
|
|
| Iga Glomerulonephritis |
|
Iga Nephropathy
|
Glomerulonephritis, Iga
|
|
Berger'S Iga Or Igg Nephropathy
|
Focal Glomerulonephritis
|
|
Primary Iga Nephropathy
|
Segmental Glomerulonephritis
|
|
Berger Disease
|
Berger'S Disease
|
|
Igan
|
Nephritis, Iga Type
|
|
Nephropathy Iga
|
Glomerulonephritis Focal
|
|
Iga Nephropathy, Susceptibility To
|
Primary Immunoglobulin A Nephropathy
|
|
|
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Ambras Syndrome
|
Hypertrichosis, Congenital Generalized
|
|
HTC1
|
HTC2
|
|
Chromosome Xq27.1 Interchromosomal Insertion Syndrome
|
Cgh
|
|
Hcg
|
Ambras Type Hypertrichosis Universalis Congenita
|
|
X-Linked Congenital Generalized Hypertrichosis
|
Congenital Generalized Hypertrichosis, Macias-Flores Type
|
|
Macias Flores-Garcia Cruz-Rivera Syndrome
|
Htc 1
|
|
Hypertrichosis Universalis Congenita Ambras Type
|
Hypertrichosis Congenital Generalized X-Linked
|
|
Macias-Flores Garcia-Cruz Rivera Syndrome
|
Congenital Generalized Hypertrichosis, Ambras Type
|
|
|
| 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
|
|
|
| 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
|
|
|
| Mannosidosis, Beta A, Lysosomal |
|
Beta-Mannosidosis
|
Lysosomal Beta-Mannosidase Deficiency
|
|
Beta-Mannosidase Deficiency
|
Beta-D-Mannosidosis
|
|
Mannosidosis, Beta
|
MANSB
|
|
Lysosomal Beta A Mannosidosis
|
|
|
| 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
|
|
|
| Nutritional Deficiency Disease |
|
Malnutrition
|
Nutritional Disorder
|
|
Nutritional Deficiency
|
Nutrition
|
|
Deficiency Diseases
|
Carbamoyl-Phosphate Synthase I Deficiency Disease
|
|
Nutrition Disorders
|
|
|
| Aspartylglucosaminuria |
|
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
|
AGU
|
Aspartylglucosamidase Deficiency
|
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
|
Hyperammonemia, Type Iii
|
|
|
| Gm2 Gangliosidosis |
|
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
|
| Sphingolipidosis |
|
|
| Gangliosidosis |
|
|
| Niemann-Pick Disease, Type C1 |
|
Niemann-Pick Disease, Type C
|
NPC1
|
|
Niemann-Pick Disease, Type D
|
Niemann-Pick Disease Type C1
|
|
Niemann-Pick Disease With Cholesterol Esterification Block
|
Niemann-Pick Disease, Subacute Juvenile Form
|
|
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia
|
Npc
|
|
Niemann-Pick Disease, Chronic Neuronopathic Form
|
Niemann-Pick Disease Without Sphingomyelinase Deficiency
|
|
Niemann-Pick Disease Type C
|
Niemann-Pick Disease Type D
|
|
Niemann-Pick C1 Disease
|
Niemann-Pick Disease C1
|
|
Niemann-Pick Disease Chronic Neuronopathic Form
|
Niemann-Pick Disease Nova Scotian Type
|
|
Niemann-Pick Disease Subacute Juvenile Form
|
Niemann-Pick Disease Type Ii
|
|
Niemann-Picks Disease Type C
|
|
|
| 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
|
|
|
