| 疾病名称 |
别名 |
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 12 |
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Limb-Girdle Muscular Dystrophy Due To Pomk Deficiency
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MDDGC12
|
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Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomk-Related
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Lgmd Due To Pomk Deficiency
|
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Muscular Dystrophy-Dystroglycanopathy Type C12
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Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C12
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Dystrophy, Muscular, Dystroglycanopathy , Type C12
|
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| Muscular Dystrophy-Dystroglycanopathy , Type A, 12 |
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MDDGA12
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomk-Related
|
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Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A12
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
|
|
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| Congenital Muscular Dystrophy With Cerebellar Involvement |
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Cmd With Cerebellar Involvement
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Cmd-Crb
|
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| Walker-Warburg Syndrome |
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Hard Syndrome
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Walker-Warburg Congenital Muscular Dystrophy
|
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Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
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Cod-Md Syndrome
|
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Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
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Cerebroocular Dysgenesis
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Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
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Hard +/- E Syndrome
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Pagon Syndrome
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Warburg Syndrome
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Hydrocephalus, Agyria, And Retinal Dysplasia
|
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Mddga
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Muscular Dystrophy-Dystroglycanopathy , Type A
|
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Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
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Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
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Wws
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Dystrophy, Muscular, Dystroglycanopathy, Type A
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|
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
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Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12
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Mddga12
|
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
|
|
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
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Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1
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Mddga1
|
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
|
|
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| Muscular Dystrophy |
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Muscular Dystrophies
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Congenital Md
|
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Congenital Muscular Dystrophy
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Cmd
|
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Mdc
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Dystrophy, Muscular
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Gower'S Muscular Dystrophy
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Progressive Musclular Dystrophy
|
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Pseudohypertrophic Atrophy
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Pseudohypertrophic Muscle Paralysis
|
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Pseudohypertrophic Muscular Atrophy
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Pseudohypertrophic Muscular Dystrophy
|
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Pseudohypertrophic Paralysis
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Pseudomuscular Hypertrophy
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|
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| Cardiomyopathy, Dilated, 1g |
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Dilated Cardiomyopathy 1g
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CMD1G
|
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Cardiomyopathy, Dilated 1g
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Cardiomyopathy, Dilated, Type 1g
|
|
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
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Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
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Mddga
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Klissencephaly Type 2 With Muscular And Ocular Involvement
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Lissencephaly Type 2 With Muscular And Ocular Involvement
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|
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| Muscular Dystrophy-Dystroglycanopathy |
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Cmd Due To Dystroglycanopathy
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Congenital Muscular Dystrophy Due To Dystroglycanopathy
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Mddg
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Dystrophy, Muscular, Dystroglycanopathy
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| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
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MDDGB1
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Muscular Dystrophy-Dystroglycanopathy , Type B1
|
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Muscular Dystrophy, Congenital, Pomt1-Related
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Muscular Dystrophy-Dystroglycanopathy Type B1
|
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Cmd Due To Dystroglycanopathy
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Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
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Muscular Dystrophy Congenital Pomt1-Related
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Muscular Dystrophy-Dystroglycanopathy
|
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Dystrophy, Muscular, Dystroglycanopathy , Type B1
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| Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
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Mdc1c
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Muscular Dystrophy-Dystroglycanopathy Type B5
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MDDGB5
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Muscular Dystrophy, Congenital, 1c
|
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Muscular Dystrophy, Congenital, Fkrp-Related
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Congenital Muscular Dystrophy 1c
|
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Fkrp-Related Congenital Muscular Dystrophy
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Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
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Muscular Dystrophy Congenital Type 1c
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Muscular Dystrophy Fkrp-Related
|
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| Cobblestone Lissencephaly |
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Lissencephaly Type 2
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Lissencephaly, Cobblestone
|
|
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| Muscular Dystrophy, Congenital, 1b |
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MDC1B
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Congenital Muscular Dystrophy 1b
|
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Cmd1b
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Congenital Muscular Dystrophy Type 1b
|
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Familial Dilated Cardiomyopathy
|
|
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| Muscular Dystrophy, Congenital, Lmna-Related |
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Congenital Muscular Dystrophy
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Congenital Muscular Dystrophy Due To Lmna Mutation
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MDCL
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L-Cmd
|
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Lmna-Related Congenital Muscular Dystrophy
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Muscular Dystrophy, Congenital
|
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Congenital Muscular Dystrophy Lmna-Related
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Lmna-Related Cmd
|
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Cmd
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Mdc
|
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Muscular Dystrophy Congenital Lmna-Related
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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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| Muscle Eye Brain Disease |
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Muscle-Eye-Brain Disease
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Muscle-Eye-Brain Syndrome
|
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Meb
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Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
|
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Meb Syndrome
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Santavuori Congenital Muscular Dystrophy
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|
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| Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
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Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3
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Mddga3
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related
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Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
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| Cardiomyopathy, Dilated, 1kk |
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Cardiomyopathy, Familial Restrictive, 4
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Dilated Cardiomyopathy 1kk
|
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CMD1KK
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Cardiomyopathy, Hypertrophic, 22
|
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Cardiomyopathy, Dilated 1kk
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Cardiomyopathy, Familial Hypertrophic 22
|
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CMH22
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Cardiomyopathy, Familial Restrictive 4
|
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RCM4
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Familial Hypertrophic Cardiomyopathy 22
|
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Cardiomyopathy, Dilated, Type 1kk
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Cardiomyopathy, Familial Hypertrophic, 22
|
|
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| Lissencephaly |
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Pachygyria
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Broad Gyri Of Cerebrum
|
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Large Gyri Of Cerebrum
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Macrogyria
|
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| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
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Fukuyama Congenital Muscular Dystrophy
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Fcmd
|
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MDDGA4
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Fukuyama Type Congenital Muscular Dystrophy
|
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Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
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Cerebromuscular Dystrophy, Fukuyama Type
|
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Fukuyama Cmd
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Fukuyama Muscular Dystrophy
|
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Fukuyama Syndrome
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Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
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Muscular Dystrophy, Congenital, Fukuyama Type
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Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
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Polymicrogyria With Muscular Dystrophy
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Congenital Muscular Dystrophy, Fukuyama Type
|
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Fktn-Related Congenital Muscular Dystrophy
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Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
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Cerebromuscular Dystrophy Fukuyama Type
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Congenital Muscular Dystrophy Fukuyama Type
|
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Micropolygyria With Muscular Dystrophy
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Muscle-Eye-Brain Disease Fktn-Related
|
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Walker-Warburg Syndrome Fktn-Related
|
|
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| Nemaline Myopathy 11, Autosomal Recessive |
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NEM11
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Nemaline Myopathy 11
|
|
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| Cardiomyopathy, Familial Hypertrophic, 9 |
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Hypertrophic Cardiomyopathy 9
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CMH9
|
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Cardiomyopathy, Familial Hypertrophic 9
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Cardiomyopathy, Hypertrophic, Familial, Type 9
|
|
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
Lgmd2i
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
|
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MDDGC5
|
Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
|
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Limb-Girdle Muscular Dystrophy Type 2i
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Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
|
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Lgmdr9
|
Muscular Dystrophy, Limb-Girdle, Type 2i
|
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Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
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Fkrp-Related Limb-Girdle Muscular Dystrophy R9
|
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Fkrp-Related Lgmd R9
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Lgmd Due To Fkrp Deficiency
|
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Lgmd Type 2i
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Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
|
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Muscular Dystrophy Limb-Girdle Type 2i
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Muscular Dystrophy-Dystroglycanopathy Type C 5
|
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Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
|
Dystrophy, Muscular, Limb-Girdle, Type 2i
|
|
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| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
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Lgmd2b
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
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Beta-Sarcoglycanopathy
|
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
|
Muscular Dystrophy, Limb-Girdle, Type 3
|
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Lgmd3
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
|
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LGMDR2
|
Muscular Dystrophy, Limb-Girdle, Type 2s
|
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Limb-Girdle Muscular Dystrophy Type 2b
|
Lgmd2e
|
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Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
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Muscular Dystrophy, Limb-Girdle, Type 2e
|
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Lgmd2s
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Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
|
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Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
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Lgmd2y
|
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Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
|
Muscular Dystrophy, Limb-Girdle, Type 2y
|
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Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
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Dysferlin-Related Lgmd R2
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Lgmd Due To Dysferlin Deficiency
|
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Lgmd Type 2b
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
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Limb-Girdle Muscular Dystrophy 2b
|
Limb-Girdle Muscular Dystrophy, Type 2b
|
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Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
|
Dystrophy, Muscular, Limb-Girdle, Type 2b
|
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Limb-Girdle Muscular Dystrophy, Type 2e
|
|
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| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o
|
MDDGC3
|
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Lgmd2o
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
|
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Lgmdr15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
|
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Muscular Dystrophy, Limb-Girdle, Type 2o
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
|
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Muscular Dystrophy-Dystroglycanopathy Type C3
|
Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
|
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Lgmd Type 2o
|
Limb-Girdle Muscular Dystrophy Type 2o
|
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Pomgnt1-Related Lgmd R15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
|
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Dystrophy, Muscular, Limb-Girdle, Type 2o
|
|
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| Hydrocephalus |
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive
|
Hydrocephalus, X-Linked
|
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Hydrocephalus Adverse Event
|
Hydrocephaly Nos
|
|
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| Brown-Vialetto-Van Laere Syndrome 2 |
|
BVVLS2
|
Rfvt3-Related Riboflavin Transporter Deficiency
|
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Rtd3
|
Riboflavin Transporter Deficiency 3
|
|
Brown-Vialetto-Van Laere Syndrome, Type 2
|
|
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
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| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
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Ventricular Hypertrophy, Hereditary
|
Ash
|
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
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Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
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Hcm
|
Hereditary Ventricular Hypertrophy
|
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Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
|
Cardiomyopathy, Hypertrophic, Familial
|
Cardiomyopathy, Hypertrophic, 1
|
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Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
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Fhc
|
Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
|
| Rippling Muscle Disease 2 |
|
Rippling Muscle Disease
|
Rmd
|
|
Lgmd1c
|
RMD2
|
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
|
Muscular Dystrophy, Limb-Girdle, Type 1c
|
|
Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly
|
Lgmd1c, Formerly
|
|
Limb-Girdle Muscular Dystrophy Type 1c
|
Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency
|
|
Muscular Dystrophy, Limb-Girdle, Type Ic
|
Rippling Muscle Syndrome
|
|
Limb-Girdle Muscular Dystrophy 1c
|
Dystrophy, Muscular, Limb-Girdle, Type 1c
|
|
Disease, Muscle, Rippling, Type 2
|
Rippling Muscle Disease 1
|
|
|
| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
|
Muscular Dystrophies, Limb-Girdle
|
Erb'S Muscular Dystrophy
|
|
Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
|
Myopathic Limb-Girdle Syndrome
|
Limb Girdle
|
|
Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
|
Lgmd - [Limb-Girdle Muscular Dystrophy]
|
Limb Girdle Muscle Dystrophy
|
|
Limb-Girdle Myopathy
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
