疾病名称 |
别名 |
|
Danon Disease |
Pseudoglycogenosis Ii
|
Antopol Disease
|
Glycogen Storage Disease Iib
|
Glycogen Storage Disease Type 2b
|
Glycogen Storage Disease Type Iib
|
Gsd2b
|
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency
|
Vacuolar Cardiomyopathy And Myopathy X-Linked
|
Vacuolar Cardiomyopathy And Myopathy, X-Linked
|
Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly
|
Gsd2b, Formerly
|
Gsd Iib, Formerly
|
Glycogen Storage Cardiomyopathy
|
Glycogen Storage Disease Limited To The Heart
|
Pseudoglycogenosis 2
|
X-Linked Vacuolar Cardiomyopathy And Myopathy
|
Lysosomal Glycogen Storage Disease With Normal Acid Maltase
|
Glycogen Storage Disease Due To Lamp-2 Deficiency
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Gsd Due To Lamp-2 Deficiency
|
Glycogenosis Due To Lamp-2 Deficiency
|
Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity
|
DAND
|
Gsd-Iib
|
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Left Ventricular Noncompaction |
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
Lvnc
|
Spongy Myocardium
|
Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
Fetal Myocardium
|
Honeycomb Myocardium
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
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Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
Ventricular Noncompaction, Left
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Non-Compaction Cardiomyopathy
|
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Hypertrophic Cardiomyopathy |
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
Hypertrophic Obstructive Subaortic Stenosis
|
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Dilated Cardiomyopathy |
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
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Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
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Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
Cardiomyopathy, Dilated
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DCM
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Cardiomyopathy, Familial Dilated
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Dilated Cardiomyopathy, Familial
|
Hypokinetic Dilated Cardiomyopathy, Familial
|
Familial Idiopathic Cardiomyopathy
|
Fdc
|
Cardiomyopathy, Familial Idiopathic
|
Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
Cocm - [Congestive Cardiomyopathy]
|
Dcm - [Dilated Cardiomyopathy]
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Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
Primary Idiopathic Dilated Cardiomyopathy
|
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Mumps |
Parotitis Due To Mumps Virus
|
Mumps Nos
|
Epidemic Parotitis
|
Infectious Parotitis
|
|
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Lysosomal Glycogen Storage Disease |
|
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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
|
|
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Glycogen Storage Disease |
Glycogenosis
|
Glycogenoses
|
Gsd
|
Storage Disease, Glycogen
|
Gsd - [Glycogen Storage Disease]
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Glycogen Thesaurismosis
|
Diffuse Glycogenosis
|
Generalised Glycogen Storage Disease
|
Generalised Glycogenosis
|
Generalised Glycogen Storage Disease Of Infants
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Glycogen Synthase Deficiency
|
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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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Phosphatase, Acid, Of Tissues |
Lysosomal Acid Phosphatase
|
Acp3--Alpha Polypeptide
|
|
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Cardiomyopathy, Familial Hypertrophic, 1 |
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
Ventricular Hypertrophy, Hereditary
|
Ash
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
Hcm
|
Hereditary Ventricular Hypertrophy
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
Cardiomyopathy, Hypertrophic, Familial
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Cardiomyopathy, Hypertrophic, 1
|
Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
Fhc
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Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
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Hermansky-Pudlak Syndrome |
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
Platelet Storage Pool Deficiency
|
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Cystinosis |
Cystine Storage Disease
|
Cystine Diathesis
|
Cystine Disease
|
Cystinoses
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Protein Defect Of Cystin Transport
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Cystin Transport, Protein Defect Of
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Nephropathic Cystinosis
|
Protein Defect Of Cystine Transport
|
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Myopathy, X-Linked, With Excessive Autophagy |
X-Linked Myopathy With Excessive Autophagy
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Xmea
|
MEAX
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Vacuolar Myopathy
|
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Myopathy |
Muscular Diseases
|
Myopathies
|
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Salla Disease |
SD
|
Sialuria, Finnish Type
|
Finnish Type Sialuria
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Sialic Acid Storage Disease, Finnish Type
|
|
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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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Atrial Standstill 1 |
ATRST1
|
Atrial Cardiomyopathy With Heart Block
|
Cardiomyopathy, Familial, With Conduction Disturbance
|
Atrial Standstill, Digenic
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Familial Cardiomyopathy With Conduction Disturbance
|
Standstill, Atrial, Type 1
|
Heart Block
|
Cardiomyopathies
|
Idiopathic Cardiomyopathy
|
Idiopathic Cardiopathy
|
Primary Myocardial Disease
|
Primary Cardiomyopathy
|
Myocardiopathy
|
Myocardosis
|
Primary Idiopathic Myocardial Disease
|
|
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Diamond-Blackfan Anemia 20 |
DBA20
|
Rps15a-Related Diamond-Blackfan Anemia
|
|
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Zellweger Syndrome |
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
Zs
|
Congenital Iron Overload
|
Chr
|
Zws
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
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Immunodeficiency 47 |
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
Congenital Disorder Of Glycosylation Type Iie
|
IMD47
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Cdg2s
|
Cdg Iis
|
Cdgiis
|
Immunodeficiency And Hepatopathy With Or Without Neurologic Features
|
Congenital Disorder Of Glycosylation, Type Ii
|
CDG1I
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Congenital Disorder Of Glycosylation, Type Iie
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Cdg Iie
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Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
Cdg Ii
|
Cdgii
|
Cdgiie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
Cdg Syndrome Type Iie
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Congenital Disorder Of Glycosylation Ii
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Congenital Disorder Of Glycosylation 1i
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Cdg-Iie
|
Alg2-Cdg
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Cdg-Ii
|
Glycosylation, Congenital Disorder Of, Type Ii
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Cdgiide
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Congenital Disorder Of Glycosylation Type Iis
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Cog7-Cdg
|
Cdg Syndrome Type Ii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
Congenital Disorder Of Glycosylation Type 1i
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Mannosyltransferase 2 Deficiency
|
Congenital Disorder Of Glycosylation 2e
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Congenital Disorder Of Glycosylation 2s
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Congenital Disorders Of Glycosylation Type Ii
|
Glycosylation, Congenital Disorder Of, Type Iie
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Immunodeficiency, Type 47
|
Congenital Disorder Of Glycosylation Type 2a
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Sphingolipidosis |
|
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Niemann-Pick Disease, Type C2 |
NPC2
|
Niemann-Pick Disease Type C2
|
Niemann-Pick C2 Disease
|
Niemann-Pick Disease C2
|
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Crescentic Glomerulonephritis |
Idiopathic Crescentic Glomerulonephritis
|
|
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Acute Proliferative Glomerulonephritis |
Acute Glomerulonephritis With Lesion Of Proliferative Glomerulonephritis
|
Acute Post-Streptococcal Glomerulonephritis
|
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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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Wolff-Parkinson-White Syndrome |
Wolff-Parkinson-White Pattern
|
Wpw Syndrome
|
Anomalous Atrioventricular Excitation
|
Anomalous A-V Excitation
|
Ventricular Pre-Excitation With Arrhythmia
|
WPWS
|
Ventricular Familial Preexcitation Syndrome
|
Preexcitation Syndrome
|
Ventricular Preexcitation
|
Wpw - [Wolff-Parkinson- White] Syndrome
|
Pre-Excitation Syndrome
|
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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
|
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Mucolipidosis |
|
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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]
|
|
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Retinitis Pigmentosa 36 |
RP36
|
Retinitis Pigmentosa-36
|
Retinitis Pigmentosa, Type 36
|
|
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C Syndrome |
Opitz Trigonocephaly Syndrome
|
Trigonocephaly
|
Trigonocephaly Syndrome
|
Trigonocephaly C Syndrome
|
Opitz C Trigonocephaly
|
Opitz Trigonocephaly C Syndrome
|
Otcs
|
CSYN
|
|
|
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
|
|
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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
|
|
|
Dystonia |
Dystonic Disease
|
Dystonic Disorder
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
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
|
|
|
Restrictive Cardiomyopathy |
Familial Restrictive Cardiomyopathy
|
Cardiomyopathy, Restrictive
|
Cardiomyopathy, Constrictive
|
Primary Restrictive Cardiomyopathy
|
Rcm
|
Cardiomyopathy Restrictive
|
|
|
Parkinson Disease, Late-Onset |
Parkinson Disease
|
Parkinson'S Disease
|
PD
|
PARK
|
Parkinson Disease, Susceptibility To
|
Late Onset Parkinson'S Disease
|
Late Onset Parkinson Disease
|
Paralysis Agitans
|
Primary Parkinsonism
|
Idiopathic Parkinson Disease
|
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]
|
Parkinson Disease Nos
|
Parkinson, Nos
|
Primary Parkinson Disease
|
|
|
Rasopathy |
Ras/Mitogen-Activated Protein Kinase Syndrome
|
|
|