| 疾病名称 |
别名 |
|
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
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EDMD5
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Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 5
|
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Emd5
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Dystrophy, Muscular, Emery-Dreifuss, Type 5, Autosomal Dominant
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| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
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EDMD2
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Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
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Emd2
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Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
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Scapuloilioperoneal Atrophy With Cardiopathy
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Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
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Hauptmann-Thannhauser Muscular Dystrophy
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Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
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Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
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Muscular Dystrophy, Limb-Girdle, Type 1b
|
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Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
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Lgmd1b, Formerly
|
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Muscular Dystrophy, Proximal, Type 1b, Formerly
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Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
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Lgmd1b
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Limb-Girdle Muscular Dystrophy 1b
|
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Muscular Dystrophy, Proximal, Type 1b
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Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
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| Cerebral Palsy |
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Infantile Cerebral Palsy
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Mixed Cerebral Palsy
|
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Palsy Cerebral
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Palsy, Cerebral
|
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Cerebral Palsy, Mixed
|
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| Emery-Dreifuss Muscular Dystrophy |
|
Edmd
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Emery-Dreifuss Syndrome
|
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Muscular Dystrophy, Emery-Dreifuss
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Humeroperoneal Neuromuscular Disease
|
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Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
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Scapuloperoneal Syndrome, X-Linked
|
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Benign Scapuloperoneal Muscular Dystrophy With Early Contractures
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Muscular Dystrophy, Emery-Dreifuss Type
|
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Muscular Dystrophy Emery-Dreifuss
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Dystrophy, Muscular, Emery-Dreifuss
|
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Emd - [Emery-Dreifuss Muscular Dystrophy]
|
|
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| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
EDMD7
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7
|
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Emery-Dreifuss Muscular Dystrophy 7, Ad
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Emd7
|
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Dystrophy, Muscular, Emery-Dreifuss, Type 7, Autosomal Dominant
|
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| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
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EDMD3
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Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 3
|
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Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
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Emery-Dreifuss Muscular Dystrophy Atypical Autosomal Recessive
|
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Dystrophy, Muscular, Emery-Dreifuss, Type 3, Autosomal Recessive
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Emery-Dreifuss Muscular Dystrophy 3
|
|
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| Arthrogryposis Multiplex Congenita-3 |
|
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| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
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EDMD4
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Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
|
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Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
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Emd4
|
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Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant
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Emery-Dreifuss Muscular Dystrophy 4
|
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| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
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EDMD1
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Emd1
|
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Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
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X-Linked Emery-Dreifuss Muscular Dystrophy 1
|
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Humeroperoneal Neuromuscular Disease
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X-Linked Emery-Dreifuss Muscular Dystrophy
|
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Scapuloperoneal Syndrome, X-Linked, Formerly
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Humeroperoneal Neuromuscular Disease, Formerly
|
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Scapuloperoneal Syndrome, X-Linked
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Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
|
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Scapuloperoneal Syndrome X-Linked
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X-Edmd
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Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
|
|
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| Myopathy, X-Linked, With Postural Muscle Atrophy |
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Emery-Dreifuss Muscular Dystrophy 6, X-Linked
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XMPMA
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X-Linked Myopathy With Postural Muscle Atrophy
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X-Linked Emery-Dreifuss Muscular Dystrophy 6
|
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EDMD6
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Emd6
|
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| Spastic Ataxia |
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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
|
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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| Spinocerebellar Ataxia, Autosomal Recessive 8 |
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Arca1
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Autosomal Recessive Cerebellar Ataxia Type 1
|
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SCAR8
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Autosomal Recessive Spinocerebellar Ataxia 8
|
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Autosomal Recessive Ataxia, Beauce Type
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Recessive Ataxia Of Beauce
|
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Syne1-Related Autosomal Recessive Cerebellar Ataxia
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Ataxia, Recessive, Of Beauce
|
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Cerebellar Ataxia, Autosomal Recessive, Type 1
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Spinocerebellar Ataxia Autosomal Recessive 8
|
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Autosomal Recessive Ataxia Beauce Type
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Spinocerebellar Ataxia, Autosomal Recessive, 8
|
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Ataxia Recessive Of Beauce
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Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
|
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| Myopathy, Centronuclear, 2 |
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Myopathy, Centronuclear, Autosomal Recessive
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Autosomal Recessive Centronuclear Myopathy
|
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CNM2
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Centronuclear Myopathy 2
|
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Ar-Cnm
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Myotubular Myopathy, Autosomal Recessive
|
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Autosomal Recessive Myotubular Myopathy
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Centronuclear Myopathy Autosomal Recessive
|
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Myopathy, Centronuclear, Type 2
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| Ciliary Dyskinesia, Primary, 7 |
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Primary Ciliary Dyskinesia 7
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CILD7
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Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus
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Primary Ciliary Dyskinesia 7 With Or Without Situs Inversus
|
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Ics7
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Immotile Cilia Syndrome 7
|
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Dyskinesia, Ciliary, Primary, 7
|
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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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| Charcot-Marie-Tooth Disease, Axonal, Type 2b1 |
|
Charcot-Marie-Tooth Disease Type 2b1
|
Charcot-Marie-Tooth Disease, Type 2b1
|
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CMT2B1
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Autosomal Recessive Axonal Cmt4c1
|
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Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b1
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Charcot-Marie-Tooth Disease Neuronal Type 2b1
|
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Charcot-Marie-Tooth Neuropathy Type 2b1
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Charcot-Marie-Tooth Disease, Neuronal, Type 2b1
|
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Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b1
|
Charcot-Marie-Tooth Neuropathy, Type 2b1
|
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Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b1
|
Ar-Cmt2b1
|
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Charcot-Marie-Tooth Disease 2b1
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Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B1
|
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Charcot-Marie-Tooth Disease Axonal Type 2b1
|
|
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| Buschke-Ollendorff Syndrome |
|
BOS
|
Dermatoosteopoikilosis
|
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Dermatofibrosis Lenticularis Disseminata With Osteopoikilosis
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Osteopathia Condensans Disseminata
|
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Dermatofibrosis Lenticularis Disseminata
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Disseminated Dermatofibrosis With Osteopoikilosis
|
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Dermatofibrosis, Disseminated, With Osteopoikilosis
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Osteopoikilosis With Or Without Melorheostosis
|
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Dermatofibrosis, Disseminated With Osteopoikilosis
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Dermatofibrosis Disseminata Lenticularis
|
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Isolated Osteopoikilosis
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Osteopoikilosis, Isolated
|
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| Axonal Neuropathy |
|
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| Greenberg Dysplasia |
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Hem Dysplasia
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Greenberg Skeletal Dysplasia
|
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Hem Skeletal Dysplasia
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GRBGD
|
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Hydrops-Ectopic Calcification-Moth-Eaten Skeletal Dysplasia
|
Moth-Eaten Skeletal Dysplasia
|
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Chondrodystrophy, Hydropic And Prenatally Lethal Type
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Hydrops-Ectopic Calcification-Motheaten Syndrome
|
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Skeletal Dysplasia, Greenberg Type
|
Autosomal Recessive Lethal Chondrodystrophy With Congenital Hydrops
|
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Hydrops, Ectopic Calcification, Moth-Eaten Skeletal Dysplasia
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Hem
|
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Hem/Greenberg Dysplasia
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Hydrops - Ectopic Calcification - Moth-Eaten Skeletal Dysplasia
|
|
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| Pelger-Huet Anomaly |
|
PHA
|
Pelger-Huët Anomaly
|
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Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities
|
Pelger Huet Anomaly
|
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Pelger-Huet Nuclear Anomaly
|
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| Osteopoikilosis |
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Osteopathia Condensans Disseminata
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Spotted Bones
|
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Dermatofibrosis Lenticularis Disseminata
|
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| Cardiomyopathy, Dilated, 1a |
|
Dilated Cardiomyopathy 1a
|
Cdcd1
|
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CMD1A
|
Cardiomyopathy, Familial Idiopathic
|
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Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
|
Cardiomyopathy, Dilated, With Conduction Defect 1
|
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Cardiomyopathy, Idiopathic Dilated
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Cardiomyopathy, Congestive
|
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Dilated Cardiomyopathy With Conduction Defect 1
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Cardiomyopathy Dilated With Conduction Defect Type 1
|
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Cardiomyopathy, Dilated 1a
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Cardiomyopathy Dilated With Conduction Defect 1
|
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Cardiomyopathy, Dilated, Type 1a
|
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| Cardiomyopathy, Dilated, 1h |
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Dilated Cardiomyopathy 1h
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Dilated Cardiomyopathy With Conduction Defect
|
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CMD1H
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Cardiomyopathy, Dilated, With Conduction Defect
|
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| Myopathy |
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Muscular Diseases
|
Myopathies
|
|
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| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
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| Hermansky-Pudlak Syndrome 1 |
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
HPS1
|
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Delta Storage Pool Disease
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
|
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Hermansky-Pudlak Syndrome, Type 1
|
Platelet Storage Pool Deficiency
|
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| Left Ventricular Noncompaction |
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Noncompaction Cardiomyopathy
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Left Ventricular Hypertrabeculation
|
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Lvnc
|
Spongy Myocardium
|
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Isolated Noncompaction Of The Ventricular Myocardium
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Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
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Fetal Myocardium
|
Honeycomb Myocardium
|
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Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
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Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
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Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
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| Dilated Cardiomyopathy |
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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
|
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Cardiomyopathy, Dilated
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DCM
|
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Cardiomyopathy, Familial Dilated
|
Dilated Cardiomyopathy, Familial
|
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Hypokinetic Dilated Cardiomyopathy, Familial
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Familial Idiopathic Cardiomyopathy
|
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Fdc
|
Cardiomyopathy, Familial Idiopathic
|
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Idiopathic Cardiomegaly
|
Dilated Congestive Cardiomyopathy
|
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Chronic Dilated Cardiomyopathy
|
Ccm - [Congestive Cardiomyopathy]
|
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Cocm - [Congestive Cardiomyopathy]
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Dcm - [Dilated Cardiomyopathy]
|
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Dilated-Hypokinetic Cardiomyopathy
|
Congestive Idiopathic Cardiomyopathy
|
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Primary Idiopathic Dilated Cardiomyopathy
|
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