疾病名称 |
别名 |
|
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
|
|
|
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
|
|
|
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
|
|
|
Aspartylglucosaminuria |
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
AGU
|
Aspartylglucosamidase Deficiency
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
Hyperammonemia, Type Iii
|
|
|
Glycogen Storage Disease Ii |
Pompe Disease
|
Glycogen Storage Disease Type Ii
|
Acid Maltase Deficiency
|
Gsd Ii
|
Gaa Deficiency
|
Alpha-1,4-Glucosidase Deficiency
|
Glycogenosis Type Ii
|
GSD2
|
Acid Alpha-Glucosidase Deficiency
|
Amd
|
Glycogen Storage Disease, Type Ii
|
Pompe'S Disease
|
Glycogen Storage Disease Type 2
|
Cardiomegalia Glycogenica Diffusa
|
Acid Maltase Deficiency Disease
|
Deficiency Of Alpha-Glucosidase
|
Glycogenosis, Generalized, Cardiac Form
|
Deficiency Of Glucoamylase
|
Deficiency Of Maltase
|
Generalized Glycogenosis
|
Glycogenosis, Type 2
|
Lysosomal Alpha-1,4-Glucosidase Deficiency
|
Glucosidase Acid-1,4-Alpha Deficiency
|
Aglucosidase Alfa
|
Deficiency Of Lysosomal Alpha-Glucosidase
|
Glycogen Storage Disease Due To Acid Maltase Deficiency
|
Alpha-1,4-Glucosidase Acid Deficiency
|
Gsd Due To Acid Maltase Deficiency
|
Gsd Type 2
|
Gsd Type Ii
|
Glycogenosis Due To Acid Maltase Deficiency
|
Glycogenosis Type 2
|
Glycogen Storage Disease 2
|
Cardiomegalia Glycogenica
|
Glycogenosis Generalized Cardiac Form
|
Glycogenosis Ii
|
Gsd-Ii
|
Storage Disease, Glycogen, Type Ii
|
Generalized Glycogen Storage Disease Of Infants
|
Cardiac Form Of Generalized Glycogenosis
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Lysosomal Storage Disease |
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
Lysosomal Storage Disorder
|
|
|
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]
|
|
|
Cerebral Lipidosis |
|
|
Mucolipidosis |
|
|
Mucolipidosis Iii Alpha/Beta |
Pseudo-Hurler Polydystrophy
|
Mucolipidosis Iii
|
Ml Iii Alpha/Beta
|
Mucolipidosis Iiia
|
Ml Iiia
|
Ml Iii
|
Ml 3 A
|
Ml3
|
Mucolipidosis Type 3a
|
Mucolipidosis Iii, Variant
|
Mucolipidosis Type Iii Alpha/Beta
|
Ml 3 Alpha/Beta
|
Mucolipidosis Type 3 Alpha/Beta
|
Mucolipidosis Type 3
|
Mucolipidosis Type Iii Complementation Group A
|
MLIIIA
|
Cariant Pseudo-Hurler Polydystrophy
|
Mucolipidosis, Type Iii Alpha/Beta
|
Mucolipidosis, Type Iii, Alpha/Beta
|
|
|
Hyperinsulinemic Hypoglycemia, Familial, 5 |
Hyperinsulinism Due To Insr Deficiency
|
HHF5
|
Familial Hyperinsulinemic Hypoglycemia 5
|
Hyperinsulinemic Hypoglycemia Due To Insr Deficiency
|
Hyperinsulinemic Hypoglycemia Due To Insulin Receptor Deficiency
|
Congenital Hyperinsulinism
|
Persistent Hyperinsulinemic Hypoglycemia Of Infancy
|
Phhi
|
Hyperinsulinemic Hypoglycemia Familial 5
|
|
|
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-Plus Syndrome |
Mucopolysaccharidosis
|
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
|
MPSPS
|
Mucopolysaccharidoses
|
Mps
|
Mucopolysaccharidosis-Like Plus Disease
|
Disorders Of Glycosaminoglycan Metabolism
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Lysosomal Acid Lipase Deficiency |
Wolman Disease
|
Cholesteryl Ester Storage Disease
|
Lal Deficiency
|
Lipa Deficiency
|
Cholesterol Ester Storage Disease
|
CESD
|
Cholesterol Ester Hydrolase Deficiency
|
Acid Lipase Deficiency
|
Acid Esterase Deficiency
|
Familial Xanthomatosis
|
Wolman Xanthomatosis
|
Wolman'S Disease
|
Wolman'S Or Triglyceride Storage Type Iii Disease
|
Xanthomatosis, Familial
|
Liposomal Acid Lipase Deficiency, Wolman Type
|
Familial Visceral Xanthomatosis
|
Primary Familial Xanthomatosis
|
Primary Familial Xanthomatosis With Adrenal Calcification
|
Acid Lipase Disease
|
WOD
|
Acid Cholesteryl Ester Hydrolase Deficiency, Type 2
|
|
|
Sphingolipidosis |
|
|
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
|
|
|
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 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
|
|
|
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]
|
|
|
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
|
|
|
Gaucher Disease, Type Iiic |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
|
Gaucher-Like Disease
|
GD3C
|
Gaucher'S Disease Type Iiic
|
Cardiovascular Gaucher Disease
|
Gaucher Disease Type 3c
|
Gaucher Disease 3c
|
Pseudo-Gaucher Disease
|
|
|
Lysosomal And Lipase Deficiency |
|
|
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
|
|
|
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
|
|
|
Gaucher'S Disease |
Gaucher Disease
|
Kerasin Thesaurismosis
|
Glucocerebrosidase Deficiency
|
Glucosylceramidase Deficiency
|
Cerebroside Lipidosis Syndrome
|
Acid Beta-Glucosidase Deficiency
|
Glucosylceramide Beta-Glucosidase Deficiency
|
Acute Cerebral Gaucher Disease
|
Gaucher Splenomegaly
|
Glucocerebrosidosis
|
Glucosyl Cerebroside Lipidosis
|
Kerasin Lipoidosis
|
Lipoid Histiocytosis
|
Glocucerebrosidase Deficiency
|
Sphingolipidosis 1
|
Gaucher Syndrome
|
Gauchers Disease
|
Gd
|
Glucosylceramide Lipidosis
|
Kerasin Histiocytosis
|
Gaucher Disease, Type 1
|
Gaucher Disease, Type 2
|
|
|
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
|
|
|
Myopathy |
Muscular Diseases
|
Myopathies
|
|
|