疾病名称 |
别名 |
|
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
Gaucher Disease, Atypical
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Atypical Gaucher Disease Due To Saposin C Deficiency
|
Atypical Gaucher Disease
|
GDSAPC
|
Saposin C Deficiency
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Atypical Gaucher'S Disease Due To Saposin C Deficiency
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AGD
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Combined Saposin Deficiency |
Encephalopathy Due To Prosaposin Deficiency
|
Combined Sap Deficiency
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PSAPD
|
Prosaposin Deficiency
|
Combined Prosaposin Deficiency
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CSAPD
|
Saposin Deficiency, Combined
|
|
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Metachromatic Leukodystrophy Due To Saposin B Deficiency |
Metachromatic Leukodystrophy Due To Cerebroside Sulfatase Activator Deficiency
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Saposin B Deficiency
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Metachromatic Leukodystrophy Due To Sap-B Deficiency
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MLDSAPB
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Metachromatic Leukodystrophy Due To Saposin-B Deficiency
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MLD-SAPB
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Activator Deficiency
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Leukodystrophy, Metachromatic, Due To Saposin-B Deficiency
|
|
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Krabbe Disease, Atypical, Due To Saposin A Deficiency |
Saposin A Deficiency
|
Krabbe Disease, Atypical
|
KRBSAPA
|
Krabbe Disease Atypical Due To Saposin A Deficiency
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AKRD
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Parkinson Disease 24, Autosomal Dominant |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
|
PARK24
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|
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Metachromatic Leukodystrophy |
Arylsulfatase A Deficiency
|
MLD
|
Arsa Deficiency
|
Sulfatide Lipidosis
|
Metachromatic Leukoencephalopathy
|
Cerebral Sclerosis, Diffuse, Metachromatic Form
|
Cerebroside Sulfatase Deficiency
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Leukodystrophy, Metachromatic
|
Pseudoarylsulfatase A Deficiency
|
Leukodystrophy Metachromatic
|
Sulfatidosis
|
Metachromatic Leukodystrophy, Late Infantile
|
Metachromatic Leukodystrophy Variant
|
Deficiency Of Cerebroside-Sulfatase
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Scholz Cerebral Sclerosis
|
Sulfatide Lipoidosis
|
Cerebral Sclerosis Diffuse Metachromatic Form
|
Arylsulfatase A Deficiency Disease
|
Cerebroside Sulphatase Deficiency Disease
|
Greenfield Disease
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Metachromatic Leukodystrophy, Adult
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Metachromatic Leukodystrophy, Juvenile
|
Leukodystrophy Metachromatic Adult
|
Leukodystrophy Metachromatic Juvenile
|
Leukodystrophy Metachromatic Late Infantile
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Metachromatic Leukodystrophy, Adult Type
|
Metachromatic Leukodystrophy, Juvenile Type
|
Metachromatic Leukodystrophy, Infant
|
Greenfield'S Disease
|
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Infantile Krabbe Disease |
Krabbe Disease, Classic Form
|
Krabbe Disease, Early-Onset
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Infantile Globoid Cell Leukodystrophy
|
|
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Metachromatic Leukodystrophy, Adult Form |
Arylsulfatase A Deficiency, Adult Form
|
Mld, Adult Form
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Metachromatic Leukodystrophy, Late Infantile Form |
Arylsulfatase A Deficiency, Late Infantile Form
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Mld, Late Infantile Form
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|
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Metachromatic Leukodystrophy, Juvenile Form |
Arylsulfatase A Deficiency, Juvenile Form
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Mld, Juvenile Form
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Hereditary Late-Onset Parkinson Disease |
Autosomal Dominant Late-Onset Parkinson Disease
|
Lopd
|
Hereditary Late Onset Parkinson Disease
|
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Parkinson Disease, Late-Onset |
Parkinson Disease
|
Parkinson'S Disease
|
PD
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PARK
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Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
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Parkinson'S
|
Parkinson Disease, Late-Onset, Susceptibility To
|
Parkinson Disease, Age Of Onset, Modifier
|
Lewy Body Parkinson Disease
|
Idiopathic Parkinson'S Disease
|
Pd - [Parkinson Disease]
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Parkinson Disease Nos
|
Parkinson, Nos
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Primary Parkinson Disease
|
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Sphingolipidosis |
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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
|
|
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Leukodystrophy |
|
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Gm2 Gangliosidosis |
Gangliosidosis Gm2
|
Gangliosidoses, Gm2
|
|
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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
|
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Gangliosidosis |
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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
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Gangliosidoses, Gm2
|
|
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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
|
|
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Gaucher Disease, Type Iii |
Gaucher Disease, Subacute Neuronopathic Type
|
Gd Iii
|
Gaucher Disease, Chronic Neuronopathic Type
|
Gaucher Disease, Juvenile And Adult, Cerebral
|
Gaucher Disease Type 3
|
GD3
|
Gaucher'S Disease Type Iii
|
Gaucher Disease Type Iii
|
Gd 3
|
Cerebral Juvenile And Adult Form Of Gaucher Disease
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Chronic Neuronopathic Gaucher Disease
|
Gaucher Disease 3
|
Cerebral, Juvenile And Adult, Gaucher Disease
|
Gaucher Disease Chronic Neuronopathic Type
|
Gaucher Disease Type Ii
|
Subacute Neuronopathic Gaucher Disease
|
Type 3 Gaucher Disease
|
Gaucher Disease, Type 3
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Gaucher Disease, Type 2
|
|
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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
|
|
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Mucolipidosis Ii Alpha/Beta |
I-Cell Disease
|
Mucolipidosis Type Ii
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Mucolipidosis Ii
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Icd
|
Inclusion Cell Disease
|
Inclusion-Cell Disease
|
I Cell Disease
|
Mucolipidosis 2
|
MLII
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Ml Ii
|
Ml Ii Alpha/Beta
|
Gnpta
|
Leroy Disease
|
Ml 2
|
Ml Disorder Type 2
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N-Acetylglucosamine 1phosphotransferase Deficiency
|
Mucolipidosis Type Ii Alpha/Beta
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N-Acetylglucosamine 1-Phosphotransferase Deficiency
|
Deficiency Of N-Acetylglucosamine-1-Phosphotransferase
|
Mucolipidosis, Type Ii, Alpha/Beta
|
Ml2
|
Type Ii Mucolipidosis
|
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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
|
|
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Gaucher Disease, Type Ii |
GD2
|
Gd Ii
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Gaucher Disease, Acute Neuronopathic Type
|
Gaucher Disease Type 2
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Gaucher Disease Type Ii
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Gaucher'S Disease Type Ii
|
Infantile Cerebral Gaucher Disease
|
Acute Neuronopathic Gaucher Disease
|
Gd 2
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Gaucher Disease, Infantile Cerebral
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Gaucher Disease 2
|
Type 2 Gaucher Disease
|
Gaucher Disease, Type 2
|
|
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Gm1 Gangliosidosis |
Beta-Galactosidase Deficiency
|
Gangliosidosis Gm1
|
Deficiency Of Beta-Galactosidase
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Beta Galactosidase 1 Deficiency
|
Beta-Galactosidosis
|
Glb 1 Deficiency
|
Beta-Galactosidase-1 Deficiency
|
Beta-Galactosidase-1 Deficiency
|
Glb1 Deficiency
|
Landing Disease
|
Gangliosidosis, Gm1
|
|
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Bacterial Gastritis |
|
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Gaucher Disease, Type I |
Glucocerebrosidase Deficiency
|
Acid Beta-Glucosidase Deficiency
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Gba Deficiency
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GD1
|
Gd I
|
Gaucher Disease, Noncerebral Juvenile
|
Gaucher Disease Type 1
|
Gaucher Disease Type I
|
Gaucher'S Disease Type I
|
Gaucher Disease
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Gd 1
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Non-Cerebral Juvenile Gaucher Disease
|
GD
|
Gaucher Disease 1
|
Adult Non-Neuronopathic Gaucher Disease
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Noncerebral Juvenile Gaucher Disease
|
Type 1 Gaucher Disease
|
Gaucher Disease, Type 1
|
|
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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
|
|
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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
|
|
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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
|
|
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Gaucher Disease, Perinatal Lethal |
Gaucher Disease Perinatal Lethal
|
Gaucher Disease, Collodion Type
|
Gaucher'S Disease Perinatal Lethal
|
Fetal Gaucher Disease
|
Perinatal Lethal Gaucher Disease
|
Gaucher Disease Collodion Type
|
Gaucher Disease, Perinatal-Lethal Form
|
GDPL
|
|
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Lysosomal Storage Disease |
Lysosomal Storage Diseases
|
Disorder Of Lysosomal Enzyme
|
Inborn Lysosomal Enzyme Disorder
|
Lysosomal Storage Metabolism Disorder
|
Lysosomal Storage Disorder
|
|
|
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
|
|
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Fanconi Anemia, Complementation Group A |
Fanconi Anemia
|
Fanconi Pancytopenia
|
Fanconi Anemia Complementation Group A
|
FANCA
|
Fa
|
Fanconi Panmyelopathy
|
Fanconi'S Anemia
|
Fanconi Anaemia
|
Fanconi'S Anaemia
|
Fanconi Hypoplastic Anemia
|
Estren-Dameshek Variant Of Fanconi Anemia
|
Estren-Dameshek Variant Of Fanconi Pancytopenia
|
Fanconi Anemia Estren-Dameshek Variant
|
Fanconis Anemia
|
|
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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
|
|
|
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
|
|
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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
|
|
|
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
|
|
|
Aspartylglucosaminuria |
Aspartylglycosaminuria
|
Glycosylasparaginase Deficiency
|
Aspartylglucosaminidase Deficiency
|
Aga Deficiency
|
AGU
|
Aspartylglucosamidase Deficiency
|
Glycoasparaginase
|
Aspartylglucosamidase Deficiency
|
Hyperammonemia, Type Iii
|
|
|
Mucolipidosis |
|
|
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
|
|
|
Niemann-Pick Disease, Type B |
Niemann-Pick Disease Type B
|
Acid Sphingomyelinase Deficiency, Visceral Type
|
Asmd, Visceral Type
|
Niemann Pick Disease Type B
|
Chronic Visceral Acid Sphingomyelinase Deficiency
|
Chronic Visceral Asmd
|
Npd-B
|
Niemann-Pick Disease B
|
NPDB
|
Niemann-Pick Disease Adult Non-Neuronopathic Form
|
Niemann-Pick Disease Intermediate With Visceral Involvement And Rapid Progression
|
Niemann-Pick Disease Type E
|
Niemann-Pick Disease Type F
|
Niemann-Pick Disease Type I
|
Niemann-Pick Disease Visceral Form
|
Npb
|
Sphingomyelinase Deficiency
|
Sphingomyelin Lipidosis
|
Niemann-Picks Disease Type B
|
Niemann-Pick Disease, Type E
|
Niemann-Pick Diseases
|
Niemann-Pick Disease, Type A
|
|
|
Prostate Cancer |
Prostate Carcinoma
|
Prostate Cancer, Familial
|
Prostate Neoplasm
|
Prostate Cancer, Somatic
|
Prostate Cancer, Susceptibility To
|
Prostatic Cancer
|
Prostatic Neoplasms
|
Hereditary Prostate Cancer
|
Prostatic Neoplasm
|
Cancer Of Prostate
|
Carcinoma Of Prostate
|
Familial Prostate Cancer
|
Familial Prostate Carcinoma
|
Malignant Tumor Of Prostate
|
Malignant Neoplasm Of Prostate
|
Prostate Cancer, Familial, Susceptibility To
|
Malignant Tumor Of The Prostate
|
Ngp - New Growth Of Prostate
|
Tumor Of The Prostate
|
Prostate Cancer, Hereditary
|
Cancer Of The Prostate
|
Malignant Neoplasm Of The Prostate
|
Prostatic Carcinoma
|
PC
|
Prca
|
Cancer, Prostate
|
Malignant Prostatic Tumour
|
Malignant Tumour Of Prostate
|
Primary Prostate Cancer
|
Primary Malignant Neoplasm Of Prostate
|
Prostate Gland Cancer
|
|
|