| 疾病名称 |
别名 |
|
| Gm1-Gangliosidosis, Type I |
|
Gm1 Gangliosidosis Type 1
|
Beta-Galactosidase-1 Deficiency
|
|
Infantile Gm1 Gangliosidosis
|
GM1G1
|
|
Gangliosidosis, Generalized Gm1, Type 1
|
Glb1 Deficiency
|
|
Gangliosidosis Generalized Gm1 Type 1
|
Gangliosidosis, Generalized Gm1, Type I
|
|
Gangliosidosis, Generalized Gm1, Infantile Form
|
Beta Galactosidase Deficiency Type 1
|
|
Glb Deficiency Type 1
|
Gangliosidosis Generalized Gm1 Infantile Form
|
|
Norman-Landing Disease
|
Gm1-Gangliosidosis 1
|
|
Gangliosidosis Generalized Gm1 Infantile Type
|
Gm1-Gangliosidosis Infantile
|
|
Gangliosidosis Gm1 Infantile
|
Gangliosidosis, Gm1, Type I
|
|
Gangliosidosis Gm1
|
Beta-Galactosidase Deficiency
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Glb1-Related Disorders |
|
|
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Spondyloepiphyseal Dysplasia
|
Chst3-Related Skeletal Dysplasia
|
|
Humerospinal Dysostosis
|
Spondyloepiphyseal Dysplasia, Omani Type
|
|
Chondrodysplasia With Multiple Dislocations
|
SEDCJD
|
|
Hsd
|
Cdmd
|
|
Humero-Spinal Dysostosis
|
Kozlowski Celermajer Tink Syndrome
|
|
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type
|
Larsen Syndrome, Recessive Type
|
|
Humero-Spinal Dysostosis With Congenital Heart Disease
|
Omani Type
|
|
Sed
|
Chst3 Deficiency
|
|
Chst3-Related Dysplasia
|
Recessive Larsen Syndrome
|
|
Autosomal Recessive Larsen Syndrome
|
Sed With Luxations, Chst3 Type
|
|
Sed, Omani Type
|
Sdcd, Chst3 Type
|
|
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type
|
Sed Omani Type
|
|
Spondyloepiphyseal Dysplasia Omani Type
|
Larsen Syndrome, Autosomal Recessive
|
|
Mucopolysaccharidosis Iv
|
Spondyloepiphyseal Dysplasia, Congenita
|
|
|
| Spastic Ataxia |
|
|
| Gangliosidosis |
|
|
| 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
|
|
|
| Lysosomal Storage Disease |
|
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
|
Lysosomal Storage Disorder
|
|
|
| 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
|
|
|
| Galactosialidosis |
|
Goldberg Syndrome
|
Neuraminidase Deficiency With Beta-Galactosidase Deficiency
|
|
Ppca Deficiency
|
GSL
|
|
Lysosomal Protective Protein Deficiency
|
Cathepsin A Deficiency
|
|
Neuraminidase/Beta-Galactosidase Expression
|
Protective Protein/Cathepsin A Deficiency
|
|
Ngbe
|
Cathepsin A Deficiency Of
|
|
Lysosomal Protective Protein Deficiency Of
|
Deficiency Of Cathepsin A
|
|
Neuraminidase Beta-Galactosidase Deficiency
|
Protective Protein Cathepsin A Deficiency
|
|
|
| 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
|
|
|
| Cerebral Lipidosis |
|
|
| Mongolian Spot |
|
|
| 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]
|
|
|
| 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
|
|
|
| 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
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| Sphingolipidosis |
|
|
| 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
|
|
|
| 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
|
|
|
| Costello Syndrome |
|
Faciocutaneoskeletal Syndrome
|
Fcs Syndrome
|
|
Congenital Myopathy With Excess Of Muscle Spindles
|
CSTLO
|
|
CMEMS
|
Fcss
|
|
Myopathy, Congenital, With Excess Of Muscle Spindles
|
|
|
| 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
|
|
|
| Lactase Deficiency, Congenital |
|
Congenital Lactase Deficiency
|
Disaccharide Intolerance Ii
|
|
Congenital Alactasia
|
Congenital Alactasia Syndrome
|
|
Congenital Lactose Intolerance
|
Congenital Lactose Malabsorption
|
|
Hereditary Alactasia
|
Alactasia, Congenital
|
|
Cld
|
COLACD
|
|
Disaccharide Intolerance Type 2
|
Cld - [Congenital Lactase Deficiency]
|
|
Disaccharide Intolerance 2
|
Lactose Intolerance Of Newborn
|
|
Hereditary Lactase Deficiency
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Gingival Hypertrophy |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Mucolipidosis |
|
|
| Lactose Intolerance |
|
Lactose Malabsorption
|
Lm - Lactose Malabsorption
|
|
Alactasia
|
Dairy Product Intolerance
|
|
Hypolactasia
|
Milk Sugar Intolerance
|
|
Cow Milk Enteropathy
|
Intolerance Or Malabsorption Of Lactose
|
|
Lm - [Lactose Malabsorption]
|
Milk Intolerance
|
|
|
| Mucopolysaccharidosis, Type Ii |
|
Hunter Syndrome
|
Iduronate 2-Sulfatase Deficiency
|
|
Mucopolysaccharidosis Ii
|
Mps Ii
|
|
Mucopolysaccharidosis Type Ii
|
MPS2
|
|
Sulfoiduronate Sulfatase Deficiency
|
Mucopolysaccharidosis, Mps-Ii
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Ids Deficiency
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Sids Deficiency
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I2s Deficiency
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Mucopolysaccharidosis Type 2
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Mucopolysaccharidosis Type 2, Severe Form
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Deficiency Of Iduronate-2-Sulphatase
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Hunter'S Syndrome
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Mps Ii - Hunter Syndrome
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Iduronate-2-Sulfatase Deficiency
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Attenuated Mps
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Mps 2
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Severe Mps Ii
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Mpsii
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Mucopolysaccharidosis Type 2, Attenuated Form
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Hunter Syndrome Type B
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Iduronate 2-Sulfatase Deficiency Type B
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Mps2b
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Mpsiib
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Mucopolysaccharidosis Type 2b
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Mucopolysaccharidosis Type Ii, Attenuated Form
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Mucopolysaccharidosis Type Iib
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Hunter Syndrome Type A
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Iduronate 2-Sulfatase Deficiency Type A
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Mps2a
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Mpsiia
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Mucopolysaccharidosis Type 2a
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Mucopolysaccharidosis Type Ii, Severe Form
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Mucopolysaccharidosis Type Iia
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Mucopolysaccharidosis 2
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Hunters Syndrome
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Iduronate 2-Sulphatase Deficiency
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Iduronate Sulfatase Deficiency
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Iduronate Sulphatase Deficiency
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Sulfo-Iduronate Sulfatase Deficiency
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Sulfoiduronidate Sulfatase Deficiency
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Sulpho-Iduronate Sulphatase Deficiency
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Sulphoiduronidate Sulphatase Deficiency
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Mps2 - [Mucopolysaccharidosis 2]
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| Metachromatic Leukodystrophy |
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Arylsulfatase A Deficiency
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MLD
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Arsa Deficiency
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Sulfatide Lipidosis
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Metachromatic Leukoencephalopathy
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Cerebral Sclerosis, Diffuse, Metachromatic Form
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Cerebroside Sulfatase Deficiency
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Leukodystrophy, Metachromatic
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Pseudoarylsulfatase A Deficiency
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Leukodystrophy Metachromatic
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Sulfatidosis
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Metachromatic Leukodystrophy, Late Infantile
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Metachromatic Leukodystrophy Variant
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Deficiency Of Cerebroside-Sulfatase
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Scholz Cerebral Sclerosis
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Sulfatide Lipoidosis
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Cerebral Sclerosis Diffuse Metachromatic Form
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Arylsulfatase A Deficiency Disease
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Cerebroside Sulphatase Deficiency Disease
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Greenfield Disease
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Metachromatic Leukodystrophy, Adult
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Metachromatic Leukodystrophy, Juvenile
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Leukodystrophy Metachromatic Adult
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Leukodystrophy Metachromatic Juvenile
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Leukodystrophy Metachromatic Late Infantile
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Metachromatic Leukodystrophy, Adult Type
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Metachromatic Leukodystrophy, Juvenile Type
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Metachromatic Leukodystrophy, Infant
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Greenfield'S Disease
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| Neuronal Ceroid Lipofuscinosis |
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Hereditary Ceroid Lipofuscinosis
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Batten Disease
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Ncl
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Neuronal Ceroid-Lipofuscinoses
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Lipofuscinosis, Ceroid, Neuronal
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Juvenile Neuronal Ceroid Lipofuscinosis
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Cerebromacular Dystrophy
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Cerebromacular Degeneration
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Ceroid-Lipofuscinosis
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Ncl - [Neuronal Ceroid Lipofuscinosis]
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Amaurotic Familial Idiocy
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Amaurotic Idiocy
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Amaurotic Idiot
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Neuronal Lipofuscinosis
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Pigmentary Retinal Lipoid Neuronal Heredodegeneration
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| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Cytochrome C Oxidase Deficiency
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Mitochondrial Complex Iv Deficiency
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Cox Deficiency
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Cytochrome-C Oxidase Deficiency Disease
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MC1DN4
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Cytochrome-C Oxidase Deficiency
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MC4DN1
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Mitochondrial Complex I Deficiency, Nuclear Type 4
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Complex 4 Mitochondrial Respiratory Chain Deficiency
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Complex Iv Deficiency
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Mitochondrial Complex 1 Deficiency, Nuclear Type 4
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Nuclear Type Mitochondrial Complex I Deficiency 4
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Deficiency Of Mitochondrial Respiratory Chain Complex4
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MT-C4D
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Complex Iv Mitochondrial Respiratory Chain Deficiency
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Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency
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Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
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| Osteochondrodysplasia |
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Skeletal Dysplasia
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Chondrodystrophy
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Congenital Anomaly Of Cartilage
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Osteochondrodysplasias
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Cartilage Development Disorder
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Osteochondrodysplasia Syndrome
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Dysplasia, Skeletal
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Mucopolysaccharidosis Iv
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