疾病名称 |
别名 |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
Lgmd2c
|
Muscular Dystrophy, Limb-Girdle, Type 2c
|
Dmda1
|
Severe Autosomal Recessive Muscular Dystrophy Of Childhood - North African Type
|
LGMDR5
|
Muscular Dystrophy, Duchenne-Like
|
Duchenne-Like Muscular Dystrophy, Autosomal Recessive, Type 1
|
Dmda
|
Adhalin Deficiency, Secondary
|
Severe Childhood Autosomal Recessive Muscular Dystrophy, North African Type
|
Scarmd
|
Maghrebian Myopathy
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
|
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
|
Gamma-Sarcoglycan-Related Lgmd R5
|
Gamma-Sarcoglycanopathy
|
Lgmd Due To Gamma-Sarcoglycan Deficiency
|
Lgmd Type 2c
|
Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2c
|
Sarcoglycan, Gamma, Deficiency Of
|
Limb-Girdle Muscular Dystrophy, Type 2c
|
Limb-Girdle Muscular Dystrophy With Gamma-Sarcoglycan Deficiency
|
Duchenne-Like Muscular Dystrophy Autosomal Recessive Type 1
|
Limb-Girdle Muscular Dystrophy 2c
|
Sarcoglycan Gamma Deficiency
|
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
|
Dystrophy, Muscular, Limb-Girdle, Type 2c
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
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
|
|
|
Muscular Dystrophy |
Muscular Dystrophies
|
Congenital Md
|
Congenital Muscular Dystrophy
|
Cmd
|
Mdc
|
Dystrophy, Muscular
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1
|
Deficiency Of Sarcoglycan Gamma
|
Dmda1
|
Gamma-Sarcoglycanopathy
|
Lgmd2c
|
Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency
|
Maghrebian Myopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2c
|
Scarmd
|
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
|
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 |
Lgmd2f
|
Muscular Dystrophy, Limb-Girdle, Type 2f
|
Limb-Girdle Muscular Dystrophy Type 2f
|
LGMDR6
|
Muscular Dystrophy Limb-Girdle With Delta-Sarcoglyan Deficiency
|
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
|
Delta-Sarcoglycan-Related Lgmd R6
|
Delta-Sarcoglycanopathy
|
Lgmd Due To Delta-Sarcoglycan Deficiency
|
Lgmd Type 2f
|
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency
|
Limb-Girdle Muscular Dystrophy 2f
|
Limb-Girdle Muscular Dystrophy, Type 2f
|
Dystrophy, Muscular, Limb-Girdle, Type 2f
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
Delta-Sarcoglycanopathy
|
Lgmd2f
|
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2f
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
Alpha-Sarcoglycanopathy
|
Dmda2
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
|
Lgmd2d
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
Primary Adhalinopathy
|
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
Lgmd2b
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
|
Beta-Sarcoglycanopathy
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
|
Muscular Dystrophy, Limb-Girdle, Type 3
|
Lgmd3
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
|
LGMDR2
|
Muscular Dystrophy, Limb-Girdle, Type 2s
|
Limb-Girdle Muscular Dystrophy Type 2b
|
Lgmd2e
|
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2e
|
Lgmd2s
|
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
|
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
|
Lgmd2y
|
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
|
Muscular Dystrophy, Limb-Girdle, Type 2y
|
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
Dysferlin-Related Lgmd R2
|
Lgmd Due To Dysferlin Deficiency
|
Lgmd Type 2b
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
Limb-Girdle Muscular Dystrophy 2b
|
Limb-Girdle Muscular Dystrophy, Type 2b
|
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
|
Dystrophy, Muscular, Limb-Girdle, Type 2b
|
Limb-Girdle Muscular Dystrophy, Type 2e
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
Leyden-Moebius Muscular Dystrophy
|
Lgmd2a
|
Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2a
|
Pelvofemoral Muscular Dystrophy
|
Primary Calpainopathy
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b |
Lgmd2b
|
Lgmd3
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
Limb-Girdle Muscular Dystrophy Type 3
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
Lgmd2g
|
Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2g
|
|
|
Miyoshi Muscular Dystrophy |
Distal Myopathy
|
Distal Muscular Dystrophy
|
Miyoshi Myopathy
|
Distal Myopathies
|
Dystrophy, Muscular, Miyoshi
|
Myopathy, Distal
|
Distal Muscular Dystrophies
|
|
|
Myopathy |
Muscular Diseases
|
Myopathies
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
Lgmd2j
|
Muscular Dystrophy, Limb-Girdle, Type 2j
|
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
Muscular Dystrophy, Limb-Girdle, Type 1f
|
Lgmd1f
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
|
LGMDD2
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2
|
Muscular Dystrophy Limb-Girdle Type 1f
|
Tnp03-Related Limb-Girdle Muscular Dystrophy D2
|
Lgmd Type 1f
|
Limb-Girdle Muscular Dystrophy Type 1f
|
Limb-Girdle Muscular Dystrophy 1f
|
Dystrophy, Muscular, Limb-Girdle, Type 1f
|
|
|
Combined Oxidative Phosphorylation Deficiency 31 |
Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome
|
COXPD31
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
Lgmd2l
|
Muscular Dystrophy, Limb-Girdle, Type 2l
|
|
|
Muscular Dystrophy, Becker Type |
Becker Muscular Dystrophy
|
BMD
|
Benign Pseudohypertrophic Muscular Dystrophy
|
Benign Congenital Myopathy
|
Becker Dystrophinopathy
|
Becker'S Muscular Dystrophy
|
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type
|
Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type
|
Muscular Dystrophy Becker
|
Dystrophy, Muscular, Becker Type
|
Dystrophinopathy
|
Becker Dystrophy
|
Becker Type Dystrophy
|
Bmd - [Becker Muscular Dystrophy]
|
|
|
Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
Lgmd2i
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
|
MDDGC5
|
Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2i
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
|
Lgmdr9
|
Muscular Dystrophy, Limb-Girdle, Type 2i
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
|
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
|
Fkrp-Related Lgmd R9
|
Lgmd Due To Fkrp Deficiency
|
Lgmd Type 2i
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
|
Muscular Dystrophy Limb-Girdle Type 2i
|
Muscular Dystrophy-Dystroglycanopathy Type C 5
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
|
Dystrophy, Muscular, Limb-Girdle, Type 2i
|
|
|
Cardiomyopathy, Dilated, 1g |
Dilated Cardiomyopathy 1g
|
CMD1G
|
Cardiomyopathy, Dilated 1g
|
Cardiomyopathy, Dilated, Type 1g
|
|
|
Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k
|
Lgmd2k
|
MDDGC1
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11
|
Lgmdr11
|
Muscular Dystrophy, Limb-Girdle, Type 2k
|
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome
|
Limb-Girdle Muscular Dystrophy Type 2k
|
Muscular Dystrophy Limb-Girdle Type 2k
|
Muscular Dystrophy-Dystroglycanopathy Type C 1
|
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
|
Lgmd Type 2k
|
Pomt1-Related Lgmd R11
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1
|
Dystrophy, Muscular, Limb-Girdle, Type 2k
|
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1
|
|
|
Arrhythmogenic Right Ventricular Cardiomyopathy |
Arrhythmogenic Right Ventricular Dysplasia
|
Arvc
|
Arvd
|
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
|
Arvc Cardiomyopathy
|
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia
|
Arvd/C
|
Right Ventricular Dysplasia, Arrhythmogenic
|
Ventricular Dysplasia, Right, Arrhythmogenic
|
Cardiomyopathy, Ventricular, Right, Arrhythmogenic
|
Dysplasia, Arrhythmogenic Right Ventricular
|
|
|
Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
MDC1A
|
Lama2-Related Muscular Dystrophy
|
Atrophie Blanche
|
Muscular Dystrophy, Congenital Merosin-Deficient
|
Congenital Merosin-Deficient Muscular Dystrophy 1a
|
Merosin-Negative Congenital Muscular Dystrophy
|
Muscular Dystrophy White Matter Spongiosis
|
Merosin Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy Congenital, Merosin Negative
|
Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
|
Cmd1a
|
Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
|
Congenital Muscular Dystrophy Type 1a
|
Laminin Alpha-2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital, Merosin-Deficient
|
Lama2 Md
|
Laminin Alpha 2 Deficiency
|
Laminin Alpha-2 Deficient Muscular Dystrophy
|
Merosin-Deficient Muscular Dystrophy
|
Muscular Dystrophy Due To Lama2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy 1a
|
Cardiomyopathy, Familial Idiopathic
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
Lgmd2h
|
Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency
|
Muscular Dystrophy Hutterite Type
|
Sarcotubular Myopathy
|
Limb-Girdle Muscular Dystrophy Type 2h
|
|
|
Facioscapulohumeral Muscular Dystrophy 1 |
Facioscapulohumeral Muscular Dystrophy
|
Fshd
|
Landouzy-Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Facioscapulohumeral
|
FSHD1
|
Fshd1a
|
Muscular Dystrophy, Facioscapulohumeral, Type 1a
|
Facioscapulohumeral Muscular Dystrophy Type 1a
|
Fsh Muscular Dystrophy
|
Facioscapulohumeral Muscular Dystrophy 1a
|
Facioscapulohumeral Atrophy
|
Facioscapulohumeral Myopathy
|
Muscular Dystrophy, Facioscapulohumeral, Type 1
|
Facioscapulohumeral Muscular Dystrophy Type 1
|
Landouzy Dejerine Muscular Dystrophy
|
Muscular Dystrophy, Landouzy-Dejerine
|
Fshmd1a
|
Facio-Scapulo-Humeral Dystrophy
|
Facioscapulohumeral Type Progressive Muscular Dystrophy
|
Facioscapuloperoneal Muscular Dystrophy
|
Facioscapulohumeral Dystrophy
|
Fsh Dystrophy
|
Landouzy-Dejerine Dystrophy
|
Landouzy-Dejerine Myopathy
|
Fmd
|
Facioscapulohumeral Muscular Dystrophy-1a
|
Muscular Dystrophy Facioscapulohumeral
|
Dystrophy, Muscular, Facioscapulohumeral
|
Dystrophy, Muscular, Facioscapulohumeral, Type 1
|
Landouzy-Dejerine Disease
|
Landouzy-Déjerine Atrophy
|
Facioscapulohumeral Muscle Dystrophy
|
Fmd - [Facioscapulohumeral Muscular Dystrophy]
|
Fsh - [Facioscapulohumeral Muscular Dystrophy]
|
Fshd - [Facioscapulohumeral Muscular Dystrophy]
|
Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
|
Landouzy-Déjérine Muscular Dystrophy
|
|
|
Cardiomyopathy, Dilated, 3b |
Dilated Cardiomyopathy 3b
|
CMD3B
|
X-Linked Dilated Cardiomyopathy
|
Xlcm
|
Dmd-Associated Dilated Cardiomyopathy
|
Cardiomyopathy, Dilated, X-Linked
|
Dmd-Related Dilated Cardiomyopathy
|
Xldc
|
Cardiomyopathy, Dilated, X-Linked 3b
|
Cardiomyopathy, Dilated, Type 3b
|
|
|
Ullrich Congenital Muscular Dystrophy 1 |
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
Miyoshi Muscular Dystrophy 3 |
MMD3
|
Miyoshi Myopathy 3
|
Distal Anoctaminopathy
|
Miyoshi Muscular Dystrophy Type 3
|
Dystrophy, Muscular, Miyoshi, Type 3
|
|
|
Muscle Tissue Disease |
|
|
Myopathy With Extrapyramidal Signs |
Proximal Myopathy With Extrapyramidal Signs
|
MPXPS
|
Myopathy, With Extrapyramidal Signs
|
|
|
Muscular Disease |
|
|
Tibial Muscular Dystrophy |
Tmd
|
Udd Myopathy
|
Distal Titinopathy
|
Finnish Tibial Muscular Dystrophy
|
Tardive Tibial Muscular Dystrophy
|
Udd Type Distal Myopathy
|
Udd Distal Myopathy
|
Udd-Markesbery Muscular Dystrophy
|
Distal Myopathy, Udd Type
|
Distal Myopathies
|
Tibial Muscular Dystrophy, Tardive
|
|
|
Bethlem Myopathy 1 |
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
Emery-Dreifuss Muscular Dystrophy |
Edmd
|
Emery-Dreifuss Syndrome
|
Muscular Dystrophy, Emery-Dreifuss
|
Humeroperoneal Neuromuscular Disease
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
Scapuloperoneal Syndrome, X-Linked
|
Benign Scapuloperoneal Muscular Dystrophy With Early Contractures
|
Muscular Dystrophy, Emery-Dreifuss Type
|
Muscular Dystrophy Emery-Dreifuss
|
Dystrophy, Muscular, Emery-Dreifuss
|
Emd - [Emery-Dreifuss Muscular Dystrophy]
|
|
|
Myofibrillar Myopathy |
Desmin Related Myopathy
|
Myotilinopathy
|
Myopathy, Myofibrillar
|
Alpha Beta Crystallinopathy
|
Desmin Storage Myopathy
|
Desminopathy
|
Filaminopathy
|
Protein Surplus Myopathy
|
Zaspopathy
|
Myofibrillar Myopathies
|
Myopathy, Myofibrillar, Desmin-Related
|
Myopathy, Desmin Storage
|
Mfm - [Myofibrillar Myopathy]
|
|
|
Walker-Warburg Syndrome |
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
Isolated Elevated Serum Creatine Phosphokinase Levels |
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
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
|
|
|
Neuromuscular Disease |
Neuromuscular Diseases
|
Neuromuscular Disorders
|
Neuromuscular Disorder
|
|
|
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
|
|
|