| 疾病名称 |
别名 |
|
| Congenital Disorder Of Glycosylation, Type Im |
|
Dolichol Kinase Deficiency
|
CDG1M
|
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Dk1 Deficiency
|
Cdg Im
|
|
Cdgim
|
Congenital Disorder Of Glycosylation Im
|
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Congenital Disorder Of Glycosylation 1m
|
Dolk-Congenital Disorder Of Glycosylation
|
|
Dk1-Cdg
|
Cdg-Im
|
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Congenital Disorder Of Glycosylation Type Im
|
Cdg Syndrome Type Im
|
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Carbohydrate Deficient Glycoprotein Syndrome Type Im
|
Congenital Disorder Of Glycosylation Type 1m
|
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Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency
|
Glycosylation, Congenital Disorder Of, Type Im
|
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
Familial Or Idiopathic Dilated Cardiomyopathy
|
|
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| Developmental And Epileptic Encephalopathy 36 |
|
Congenital Disorder Of Glycosylation Type I
|
Epileptic Encephalopathy, Early Infantile, 36
|
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Congenital Disorder Of Glycosylation, Type Is
|
Cdg1s
|
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Congenital Disorder Of Glycosylation, Type Ie
|
CDG1E
|
|
Congenital Disorder Of Glycosylation Type 1e
|
DEE36
|
|
Eiee36
|
Cdg Is
|
|
Cdgis
|
Congenital Disorder Of Glycosylation Ie
|
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Congenital Disorder Of Glycosylation 1e
|
Cdg-Is
|
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Congenital Disorder Of Glycosylation Type Is
|
Developmental And Epileptic Encephalopathy, 36
|
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Cdg Ie
|
Cdgie
|
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Early Infantile Epileptic Encephalopathy 36
|
Alg13-Cdg
|
|
Cdg Syndrome Type Is
|
Congenital Disorder Of Glycosylation Type 1s
|
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Dpm1-Cdg
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Cdg Syndrome Type Ie
|
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Cdg-Ie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ie
|
|
Congenital Disorder Of Glycosylation Type Ie
|
Dol-P-Mannosyltransferase Deficiency
|
|
Congenital Disorder Of Glycosylation 1s
|
Glycosylation, Congenital Disorder Of, Type I
|
|
Glycosylation, Congenital Disorder Of, Type Ie
|
Congenital Disorder Of Glycosylation Type 1a
|
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Congenital Disorder Of Glycosylation, Type Iu
|
|
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| Immunodeficiency 47 |
|
Congenital Disorder Of Glycosylation Type Ii
|
CDG2E
|
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Congenital Disorder Of Glycosylation Type Iie
|
IMD47
|
|
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
|
Cdg Iie
|
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Congenital Disorder Of Glycosylation Type 2e
|
Congenital Disorder Of Glycosylation, Type Iis
|
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Cdg Ii
|
Cdgii
|
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Cdgiie
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iie
|
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Cdg Syndrome Type Iie
|
Congenital Disorder Of Glycosylation Ii
|
|
Congenital Disorder Of Glycosylation 1i
|
Cdg-Iie
|
|
Alg2-Cdg
|
Cdg-Ii
|
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Glycosylation, Congenital Disorder Of, Type Ii
|
Cdgiide
|
|
Congenital Disorder Of Glycosylation Type Iis
|
Cog7-Cdg
|
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Cdg Syndrome Type Ii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Ii
|
|
Congenital Disorder Of Glycosylation Type 1i
|
Mannosyltransferase 2 Deficiency
|
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Congenital Disorder Of Glycosylation 2e
|
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
|
|
|
| Kahrizi Syndrome |
|
KHRZ
|
Mental Retardation, Cataract, Coloboma, And Kyphosis, Autosomal Recessive
|
|
Intellectual Disability, Kahrizi Type
|
Intellectual Disability-Cataract-Coloboma-Kyphosis Syndrome
|
|
|
| Congenital Disorder Of Glycosylation, Type Iik |
|
CDG2K
|
Congenital Disorder Of Glycosylation Type Iik
|
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Cdg Iik
|
Cdgiik
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iik
|
Cdg Syndrome Type Iik
|
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Congenital Disorder Of Glycosylation Type 2k
|
Tmem165-Cdg
|
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Cdg-Iik
|
Cdgiidk
|
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Congenital Disorder Of Glycosylation 2k
|
Glycosylation, Congenital Disorder Of, Type Iik
|
|
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3
|
Mddga3
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
|
|
|
| Congenital Disorder Of Glycosylation, Type Iif |
|
CDG2F
|
Congenital Disorder Of Glycosylation Type Iif
|
|
Cdg Iif
|
Cdgiif
|
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Carbohydrate Deficient Glycoprotein Syndrome Type Iif
|
Cmp-Sialic Acid Transporter Deficiency
|
|
Slc35a1-Cdg
|
Cdg-Iif
|
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Cdgiidf
|
Cdg Syndrome Type Iif
|
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Congenital Disorder Of Glycosylation Type 2f
|
Congenital Disorder Of Glycosylation 2f
|
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Glycosylation, Congenital Disorder Of, Type Iif
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
MDDGB1
|
Muscular Dystrophy-Dystroglycanopathy , Type B1
|
|
Muscular Dystrophy, Congenital, Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B1
|
|
Cmd Due To Dystroglycanopathy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
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Muscular Dystrophy Congenital Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy
|
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Dystrophy, Muscular, Dystroglycanopathy , Type B1
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
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MDCL
|
L-Cmd
|
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Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
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Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
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Cmd
|
Mdc
|
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Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
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Dystrophy, Muscular, Congenital
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Hereditary Muscular Dystrophy
|
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Congenital Hereditary Muscular Dystrophy
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Congenital Progressive Muscular Dystrophy
|
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Hereditary Progressive Muscular Dystrophy
|
|
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
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Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
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| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
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Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
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Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
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Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
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Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
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Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| Motion Sickness |
|
Airsickness
|
Carsickness
|
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Seasickness
|
Travel Sickness
|
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Riders' Vertigo
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
Fukuyama Congenital Muscular Dystrophy
|
Fcmd
|
|
MDDGA4
|
Fukuyama Type Congenital Muscular Dystrophy
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
|
Cerebromuscular Dystrophy, Fukuyama Type
|
|
Fukuyama Cmd
|
Fukuyama Muscular Dystrophy
|
|
Fukuyama Syndrome
|
Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
|
Muscular Dystrophy, Congenital, Fukuyama Type
|
Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
|
Polymicrogyria With Muscular Dystrophy
|
Congenital Muscular Dystrophy, Fukuyama Type
|
|
Fktn-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
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Cerebromuscular Dystrophy Fukuyama Type
|
Congenital Muscular Dystrophy Fukuyama Type
|
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Micropolygyria With Muscular Dystrophy
|
Muscle-Eye-Brain Disease Fktn-Related
|
|
Walker-Warburg Syndrome Fktn-Related
|
|
|
| Congenital Disorder Of Glycosylation, Type Iii |
|
CDG2I
|
Congenital Disorder Of Glycosylation Type Iii
|
|
Cdgiii
|
Carbohydrate Deficient Glycoprotein Syndrome Type Iii
|
|
Congenital Disorder Of Glycosylation Type 2i
|
Cog5-Cdg
|
|
Cdgiidi
|
Congenital Disorder Of Glycosylation 2i
|
|
Glycosylation, Congenital Disorder Of, Type Iii
|
Congenital Disorder Of Glycosylation, Type I-Iix
|
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
|
Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
| Ngly1-Deficiency |
|
Deficiency Of N-Glycanase 1
|
Ngly1-Cddg
|
|
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
|
Ngly1 Deficiency
|
|
Congenital Disorder Of Deglycosylation
|
Congenital Disorder Of Glycosylation Type Iv
|
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Congenital Disorder Of Deglycosylation
|
Cddg
|
|
Congenital Disorder Of Glycosylation Type Iv
|
Cdg1v
|
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Osteogenesis Imperfecta, Type I |
|
Osteogenesis Imperfecta Type I
|
OI1
|
|
Oi, Type I
|
Osteogenesis Imperfecta Tarda
|
|
Osteogenesis Imperfecta With Blue Sclerae
|
Osteogenesis Imperfecta Type 1
|
|
Adair-Dighton Syndrome
|
Mild Osteogenesis Imperfecta
|
|
Non-Deforming Osteogenesis Imperfecta
|
Oi Type 1
|
|
Van Der Hoeve Syndrome
|
Classic Non-Deforming Oi With Blue Sclerae
|
|
Osteogenesis Imperfecta 1
|
Oi-I
|
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Osteopenic Non-Fracture Syndrome
|
Osteogenesis Imperfecta, Mild
|
|
Osteogenesis Imperfecta
|
Lobstein'S Disease
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
| Dilated Cardiomyopathy |
|
Familial Dilated Cardiomyopathy
|
Primary Dilated Cardiomyopathy
|
|
Idiopathic Dilated Cardiomyopathy
|
Congestive Cardiomyopathy
|
|
Idiopathic Dilation Cardiomyopathy
|
Primary Familial Dilated Cardiomyopathy
|
|
Cardiomyopathy, Dilated
|
DCM
|
|
Cardiomyopathy, Familial Dilated
|
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]
|
|
Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
|
Primary Idiopathic Dilated Cardiomyopathy
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
