| 疾病名称 |
别名 |
|
| Mucopolysaccharidosis, Type Iiia |
|
Mucopolysaccharidosis Type Iiia
|
MPS3A
|
|
Mps Iiia
|
Sanfilippo Syndrome A
|
|
Heparan Sulfate Sulfatase Deficiency
|
Sulfamidase Deficiency
|
|
Heparan Sulfamidase Deficiency
|
Mpsiiia
|
|
Mucopolysaccharidosis Type 3a
|
Sanfilippo Syndrome Type A
|
|
Mucopolysaccharidosis Iii-A
|
Heparane Sulfamidase Deficiency
|
|
Mps 3a
|
Mucopoly-Saccharidosis Type 3a
|
|
Mps Iii-A
|
Mucopolysaccharidosis 3a
|
|
Mucopolysaccharidosis Iii
|
|
|
| Mucopolysaccharidosis Iii |
|
Sanfilippo Syndrome
|
Mucopolysaccharidosis Type Iii
|
|
Mucopolysaccharidosis Type 3
|
Mps Iii
|
|
Mpsiii
|
Sanfilippo Disease
|
|
Heparan Sulfate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Iii
|
|
N-Sulphoglucosamine Sulphohydrolase Deficiency
|
Naglu Deficiency
|
|
Sanfilippo'S Syndrome
|
Mucopoly-Saccharidosis Type 3
|
|
Mps3
|
Sanfilippos Syndrome
|
|
Mucopolysaccharidosis Type Iiia
|
Mps Iii B
|
|
|
| Diarrhea |
|
Diarrhoea
|
Diarrhea Of Presumed Infectious Origin
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| 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
|
|
|
| Mucopolysaccharidosis, Type Iiib |
|
Mucopolysaccharidosis Type Iiib
|
MPS3B
|
|
Naglu Deficiency
|
Mps Iiib
|
|
Sanfilippo Syndrome B
|
N-Acetyl-Alpha-D-Glucosaminidase Deficiency
|
|
Mpsiiib
|
Mucopoly-Saccharidosis Type 3b
|
|
Mucopolysaccharidosis Type 3b
|
N-Acetyl-Alpha-Glucosaminidase Deficiency
|
|
Sanfilippo Syndrome Type B
|
Mps Iii B
|
|
Mps 3b
|
Mps Iii-B
|
|
Mucopolysaccharidosis 3b
|
|
|
| Kluver-Bucy Syndrome |
|
Bilateral Temporal Lobe Disorder
|
Klüver-Bucy Syndrome
|
|
Klver-Bucy Syndrome
|
Kluver Bucy Syndrome
|
|
Memory Loss, Extreme Sexual Behavior, Placidity, And Visual Distractibility
|
Post-Encephalitic Kluver Bucy Syndrome
|
|
Post-Traumatic Kluver Bucy Syndrome
|
|
|
| Scheie Syndrome |
|
Mucopolysaccharidosis Type Is
|
Alpha-L-Iduronidase Deficiency
|
|
Mucopolysaccharidosis Type I
|
Mucopolysaccharidosis I
|
|
Hurler-Scheie Syndrome
|
Mucopolysaccharidosis Type 1
|
|
Mucopolysaccharidosis Is
|
Mucopolysaccharidosis Type 1s
|
|
Mucopolysaccharidosis Type V
|
Hurler Syndrome
|
|
Idua Deficiency
|
Mps I
|
|
MPS1S
|
Mps1-S
|
|
Mucopolysaccharidosis Type V, Formerly
|
Mps V, Formerly
|
|
Mps5, Formerly
|
Lipochondrodystrophy
|
|
Mpsis
|
Mucopolysaccharidosis, Type I
|
|
Iduronidase Deficiency Disease
|
Mps I - Hurler Syndrome
|
|
Mucopolysaccharidosis, Mps-I
|
Mucopolysaccharidosis, Type 1
|
|
Attenuated Mps I
|
Mps 1
|
|
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)
|
Severe Mps I
|
|
Mps I H
|
Mps I H-S
|
|
Mps I S
|
Mps1
|
|
Mpsi
|
Mucopolysaccharidosis 1s
|
|
Mps Is
|
Mps-Is
|
|
Mps V
|
Mucopolysaccharidosis V
|
|
Pfaundler-Hurler Syndrome
|
L-Iduronidase Deficiency
|
|
Dysostosis Multiplex
|
Dysostosis Multiplex Syndrome
|
|
Gargoylism
|
Mps1 - [Mucopolysaccharidosis Type 1]
|
|
|
| Mucopolysaccharidosis, Type Iiid |
|
Mucopolysaccharidosis Type Iiid
|
MPS3D
|
|
Mps Iiid
|
N-Acetylglucosamine-6-Sulfatase Deficiency
|
|
Sanfilippo Syndrome D
|
Gns Deficiency
|
|
Mucopolysaccharidosis Type 3d
|
Sanfilippo Syndrome Type D
|
|
Glucosamine N-Acetyl-6-Sulfatase Deficiency
|
Mpsiiid
|
|
Mps 3d
|
Mucopoly-Saccharidosis Type 3d
|
|
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
|
Mps Iii-D
|
|
Mucopolysaccharidosis 3d
|
Sanfilippo D Syndrome
|
|
Mps Iii D
|
|
|
| Mucopolysaccharidosis, Type Iiic |
|
Mucopolysaccharidosis Type Iiic
|
MPS3C
|
|
Mps Iiic
|
Sanfilippo Syndrome C
|
|
Heparan-Alpha-Glucosaminide N-Acetyltransferase Deficiency
|
Hgsnat Deficiency
|
|
Mpsiiic
|
Mucopolysaccharidosis Type 3c
|
|
Sanfilippo Syndrome Type C
|
Acetyl-Coa:Alpha-Glucosaminide N-Acetyltransferase Deficiency
|
|
Mucopoly-Saccharidosis Type 3c
|
Acetyl-Coa Alpha-Glucosaminide Acetyltransferase Deficiency
|
|
Acetyl-Coa Alpha-Glucosaminide N-Acetyltransferase Deficiency
|
Mps 3c
|
|
Mps Iii-C
|
Mucopolysaccharidosis 3c
|
|
Mucopolysaccharidosis Iii
|
Mps Iii C
|
|
|
| Hurler-Scheie Syndrome |
|
Mucopolysaccharidosis Type Ih/S
|
Mucopolysaccharidosis Ih/S
|
|
MPS1H/S
|
Mpsih/S
|
|
Mucopolysaccharidosis Type 1h/S
|
Mps1-Hs
|
|
Alpha-L-Iduronidase Deficiency
|
Mucopolysaccharidosis I
|
|
Mucopolysaccharidosis 1h/S
|
Mps-Ih/S
|
|
|
| Mannosidosis, Alpha B, Lysosomal |
|
Alpha-Mannosidosis
|
Lysosomal Alpha-D-Mannosidase Deficiency
|
|
Deficiency Of Alpha-Mannosidase
|
Alpha-Mannosidase B Deficiency
|
|
Mannosidosis
|
MANSA
|
|
Mannosidosis, Alpha-, Types I And Ii
|
Alpha-D-Mannosidosis
|
|
Alpha-Mannosidase Deficiency
|
Α-Mannosidosis
|
|
Alpha Mannosidase B Deficiency
|
Mannosidosis, Alpha B Lysosomal
|
|
Lysosomal Alpha B Mannosidosis
|
Alpha-Mannosidosis, Infantile Form
|
|
Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form
|
Alpha-Mannosidosis, Adult Form
|
|
Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form
|
Alpha-Mannosidosis Types I And Ii
|
|
Mannosidase Deficiency Diseases
|
|
|
| Mucopolysaccharidosis, Type Ivb |
|
Mucopolysaccharidosis Type Ivb
|
Mps Ivb
|
|
MPS4B
|
Morquio Syndrome B
|
|
Beta-D-Galactosidase Deficiency
|
Morquio Disease Type B
|
|
Mps 4b
|
Mucopolysaccharidosis Type 4b
|
|
Mpsivb
|
Morquio Disease, Type B
|
|
Mucopolysaccharidosis Type Iv-B
|
Mucopolysaccharidosis 4b
|
|
Morquio'S Syndrome B
|
Mps-Ivb
|
|
|
| Mucopolysaccharidosis, Type Iva |
|
Mps Iva
|
Galns Deficiency
|
|
MPS4A
|
Morquio A Disease
|
|
Galactosamine-6-Sulfatase Deficiency
|
Morquio Syndrome A
|
|
Mucopolysaccharidosis Iva
|
Mucopolysaccharidosis Type Iva
|
|
Mpsiva
|
Morquio Disease Type A
|
|
Mucopolysaccharidosis Type 4a
|
N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency
|
|
Morquio Syndrome Type A
|
Mps 4a
|
|
Morquio Disease, Type A
|
Mucopolysaccharidosis 4a
|
|
Morquio'S Syndrome A
|
Mps Iv A
|
|
Mucopolysaccharidosis Iv
|
Mucopolysaccharidosis, Mps-Iv-A
|
|
|
| Mucopolysaccharidosis, Type Ii |
|
Hunter Syndrome
|
Iduronate 2-Sulfatase Deficiency
|
|
Mucopolysaccharidosis Ii
|
Mps Ii
|
|
Mucopolysaccharidosis Type Ii
|
MPS2
|
|
Sulfoiduronate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Ii
|
|
Ids Deficiency
|
Sids Deficiency
|
|
I2s Deficiency
|
Mucopolysaccharidosis Type 2
|
|
Mucopolysaccharidosis Type 2, Severe Form
|
Deficiency Of Iduronate-2-Sulphatase
|
|
Hunter'S Syndrome
|
Mps Ii - Hunter Syndrome
|
|
Iduronate-2-Sulfatase Deficiency
|
Attenuated Mps
|
|
Mps 2
|
Severe Mps Ii
|
|
Mpsii
|
Mucopolysaccharidosis Type 2, Attenuated Form
|
|
Hunter Syndrome Type B
|
Iduronate 2-Sulfatase Deficiency Type B
|
|
Mps2b
|
Mpsiib
|
|
Mucopolysaccharidosis Type 2b
|
Mucopolysaccharidosis Type Ii, Attenuated Form
|
|
Mucopolysaccharidosis Type Iib
|
Hunter Syndrome Type A
|
|
Iduronate 2-Sulfatase Deficiency Type A
|
Mps2a
|
|
Mpsiia
|
Mucopolysaccharidosis Type 2a
|
|
Mucopolysaccharidosis Type Ii, Severe Form
|
Mucopolysaccharidosis Type Iia
|
|
Mucopolysaccharidosis 2
|
Hunters Syndrome
|
|
Iduronate 2-Sulphatase Deficiency
|
Iduronate Sulfatase Deficiency
|
|
Iduronate Sulphatase Deficiency
|
Sulfo-Iduronate Sulfatase Deficiency
|
|
Sulfoiduronidate Sulfatase Deficiency
|
Sulpho-Iduronate Sulphatase Deficiency
|
|
Sulphoiduronidate Sulphatase Deficiency
|
Mps2 - [Mucopolysaccharidosis 2]
|
|
|
| Mucopolysaccharidosis Iv |
|
Morquio Syndrome
|
Mucopolysaccharidosis Type 4
|
|
Mucopolysaccharidosis Type Iv
|
Morquio Disease
|
|
Galactosamine-6-Sulfatase Deficiency
|
Mps4
|
|
Mpsiv
|
Morquio-Brailsford Disease
|
|
Chondroosteodystrophy
|
Deficiency Of Chondroitinsulphatase
|
|
Deficiency Of N-Acetylgalactosamine-6-Sulphatase
|
Mucopolysaccharidosis, Mps-Iv
|
|
Osteochondrodystrophy
|
Morquio'S Disease
|
|
Morquio'S Syndrome
|
Mps Iv
|
|
Mucopolysaccharidosis Iv
|
Morquios Syndrome
|
|
Mucopolysaccharidosis, Mps-Iv-A
|
Mucopolysaccharidosis Type Ivb
|
|
Galns Deficiency
|
|
|
| Mucopolysaccharidosis, Type Vii |
|
Sly Syndrome
|
Beta-Glucuronidase Deficiency
|
|
Mucopolysaccharidosis Vii
|
Mucopolysaccharidosis Type Vii
|
|
MPS7
|
Mps Vii
|
|
Gusb Deficiency
|
Mucopolysaccharidosis Type 7
|
|
Mucopolysaccharidosis 7
|
Deficiency Of Beta-Glucuronidase
|
|
Mps Vii - Sly Syndrome
|
Mps 7
|
|
Mpsvii
|
Sly Disease
|
|
Sl
|
|
|
| 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
|
|
|
| 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
|
|
|
| Mucopolysaccharidosis, Type Vi |
|
Maroteaux-Lamy Syndrome
|
Arylsulfatase B Deficiency
|
|
Mucopolysaccharidosis Type Vi
|
Mps Vi
|
|
Mucopolysaccharidosis Vi
|
Mucopolysaccharidosis Type 6
|
|
MPS6
|
Arsb Deficiency
|
|
N-Acetylgalactosamine-4-Sulfatase Deficiency
|
Mucopolysaccharidosis 6
|
|
N-Acetylgalactosamine 4-Sulfatase Deficiency
|
Deficiency Of N-Acetylgalactosamine-4-Sulfatase
|
|
Maroteaux - Lamy Syndrome
|
Mps Vi - Maroteaux-Lamy Syndrome
|
|
Mps 6
|
Maroteaux Lamy Syndrome
|
|
Mucopoly-Saccharidosis Type Vi
|
Polydystrophic Dwarfism
|
|
Asb Deficiency
|
Mpsvi
|
|
Maroteaux-Lamy Disease
|
Arsb - [Arylsulfatase B] Deficiency
|
|
|
| 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
|
|
|
| Gangliosidosis |
|
|
| Hurler Syndrome |
|
Mucopolysaccharidosis Ih
|
Mucopolysaccharidosis Type Ih
|
|
Mps1-H
|
MPS1H
|
|
Hurler Disease
|
Mpsih
|
|
Mucopolysaccharidosis Type 1h
|
Alpha-L-Iduronidase Deficiency
|
|
Dysostosis Multiplex
|
Dysostosis Multiplex Syndrome
|
|
Gargoylism
|
Hurler Disease Mps Type 1h
|
|
Hurler-Pfaundler Syndrome
|
L-Iduronidase Deficiency, Hurler Type
|
|
Mucopolysaccharidosis Type I Severe Form
|
Mucopolysaccharidosis 1h
|
|
Hurler'S Syndrome
|
Mps Ih
|
|
Mps-Ih
|
Pfaundler-Hurler Syndrome
|
|
Mucopolysaccharidosis I
|
|
|
| Canavan Disease |
|
Aspartoacylase Deficiency
|
Aminoacylase 2 Deficiency
|
|
Spongy Degeneration Of Central Nervous System
|
Aspa Deficiency
|
|
Acy2 Deficiency
|
Canavan-Van Bogaert-Bertrand Disease
|
|
Mild Canavan Disease
|
Asp Deficiency
|
|
Spongy Degeneration Of The Central Nervous System
|
Severe Canavan Disease
|
|
Von Bogaert-Bertrand Disease
|
Canavan'S Disease
|
|
Spongy Degeneration Of The Brain
|
Juvenile Canavan Disease
|
|
Infantile Canavan Disease
|
Neonatal Canavan Disease
|
|
CAND
|
Disease, Canavan
|
|
Canavan Disease, Juvenile
|
Canavan Disease, Infantile
|
|
Canavan Disease, Neonatal
|
|
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Batten Disease
|
Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Neuronal Ceroid Lipofuscinosis 3
|
CLN3
|
|
Jncl
|
Spielmeyer-Vogt Disease
|
|
Vogt-Spielmeyer Disease
|
Spielmeyer-Sjogren Disease
|
|
Cln3 Disease
|
Neuronal Ceroid Lipofuscinosis, Juvenile
|
|
Cln3 Disease, Juvenile
|
Spielmeyer Sjogren Disease
|
|
Vogt Spielmeyer Disease
|
Batten-Mayou Disease
|
|
Batten-Spielmeyer-Vogt Disease
|
Cln3-Related Neuronal Ceroid-Lipofuscinosis
|
|
Juvenile Batten Disease
|
Juvenile Cerebroretinal Degeneration
|
|
Classic Juvenile Ncl
|
Classic Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Juvenile Ncl
|
Lipofuscinosis, Ceroid, Neuronal, Type 3
|
|
|
| Krabbe Disease |
|
Globoid Cell Leukodystrophy
|
Galactosylceramide Beta-Galactosidase Deficiency
|
|
Galc Deficiency
|
Galactocerebrosidase Deficiency
|
|
GLD
|
Globoid Cell Leukoencephalopathy
|
|
Diffuse Globoid Body Sclerosis
|
Gcl
|
|
Leukodystrophy, Globoid Cell
|
Krabbe'S Leukodystrophy
|
|
Krabbe Leukodystrophy
|
KRB
|
|
Beta Galactocerebrosidase Deficiency
|
Krabbe'S Disease
|
|
Galactosylceramidase Deficiency Disease
|
Galactosylceramide Lipidosis
|
|
Galactosylcerebrosidase Deficiency
|
Galactosylsphingosine Lipidosis
|
|
Psychosine Lipidosis
|
Galactosylceramidase Deficiency
|
|
Infantile Globoid Cell Leukodystrophy
|
Krabbe Brain Sclerosis
|
|
|
| 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
|
|
|
| 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
|
|
|
| Sphingolipidosis |
|
|
| 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
|
|
|
