| 疾病名称 |
别名 |
|
| Miyoshi Muscular Dystrophy 1 |
|
Miyoshi Myopathy
|
MMD1
|
|
Miyoshi Distal Myopathy
|
Muscular Dystrophy, Distal, Late-Onset, Autosomal Recessive
|
|
Miyoshi Myopathy 1
|
Mm
|
|
Muscular Dystrophy, Distal, Late Onset, Autosomal Recessive
|
Distal Muscular Dystrophy, Miyoshi Type
|
|
Miyoshi Muscular Dystrophy
|
Mmd
|
|
Muscular Dystrophy Distal Late-Onset Autosomal Recessive
|
Dystrophy, Muscular, Miyoshi Type 1
|
|
|
| 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
|
|
|
| Myopathy, Distal, With Anterior Tibial Onset |
|
Distal Myopathy With Anterior Tibial Onset
|
DMAT
|
|
Distal Anterior Compartment Myopathy
|
|
|
| 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 |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Dysferlinopathy |
|
|
| Qualitative Or Quantitative Defects Of Dysferlin |
|
|
| Congenital Myopathy, Paradas Type |
|
|
| 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
|
|
|
| Miyoshi Muscular Dystrophy |
|
Distal Myopathy
|
Distal Muscular Dystrophy
|
|
Miyoshi Myopathy
|
Distal Myopathies
|
|
Dystrophy, Muscular, Miyoshi
|
Myopathy, Distal
|
|
Distal Muscular Dystrophies
|
|
|
| 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
|
|
|
| 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
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| 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
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Muscular Dystrophy, Limb-Girdle, Type 2g
|
Lgmd2g
|
|
LGMDR7
|
Limb-Girdle Muscular Dystrophy, Type 2g
|
|
Telethonin-Related Limb-Girdle Muscular Dystrophy R7
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
|
|
Lgmd Due To Telethonin Deficiency
|
Lgmd Type 2g
|
|
Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2g
|
|
Telethonin-Related Lgmd R7
|
Limb-Girdle Muscular Dystrophy 2g
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2g
|
|
|
| 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
|
|
|
| Myositis |
|
Idiopathic Inflammatory Myopathy
|
Idiopathic Inflammatory Myositis
|
|
Iim
|
Imm
|
|
Idiopathic Inflammatory Myopathies
|
Myopathy, Familial Idiopathic Inflammatory
|
|
Inflammatory Disorder Of Muscle
|
Idiopathic Inflammatory Myopathy, Familial
|
|
Inflammatory Myopathy, Idiopathic
|
Myopathies Idiopathic Inflammatory
|
|
Familial Idiopathic Inflammatory Myopathy
|
|
|
| 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]
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
|
Lgmd2l
|
Muscular Dystrophy, Limb-Girdle, Type 2l
|
|
|
| Miyoshi Muscular Dystrophy 3 |
|
MMD3
|
Miyoshi Myopathy 3
|
|
Distal Anoctaminopathy
|
Miyoshi Muscular Dystrophy Type 3
|
|
Dystrophy, Muscular, Miyoshi, Type 3
|
|
|
| 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
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Sarcotubular Myopathy
|
Lgmd2h
|
|
Muscular Dystrophy, Limb-Girdle, Type 2h
|
Limb-Girdle Muscular Dystrophy Type 2h
|
|
LGMDR8
|
Muscular Dystrophy Hutterite Type
|
|
Muscular Dystrophy, Hutterite Type
|
Muscular Dystrophy Limb-Girdle Type 2h
|
|
Trim32-Related Limb-Girdle Muscular Dystrophy R8
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
|
|
Lgmd Due To Trim32 Deficiency
|
Lgmd Type 2h
|
|
Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency
|
Trim32-Related Lgmd R8
|
|
Limb-Girdle Muscular Dystrophy 2h
|
Dystrophy, Muscular, Limb-Girdle, Type 2h
|
|
|
| Welander Distal Myopathy |
|
WDM
|
Muscular Dystrophy, Distal, Late-Onset, Autosomal Dominant
|
|
Myopathy, Distal, Swedish
|
Welander Distal Myopathy, Swedish Type
|
|
Distal Myopathy, Swedish Type
|
Distal Myopathy, Welander Type
|
|
Late-Onset Autosomal Dominant Distal Muscular Dystrophy
|
Swedish Distal Myopathy
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
|
Lgmd2g
|
Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
|
|
Muscular Dystrophy, Limb-Girdle, Type 2g
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Lgmd2e
|
Muscular Dystrophy, Limb-Girdle, Type 2e
|
|
LGMDR4
|
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
|
Beta-Sarcoglycan-Related Lgmd R4
|
|
Beta-Sarcoglycanopathy
|
Lgmd Due To Beta-Sarcoglycan Deficiency
|
|
Lgmd Type 2e
|
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
|
|
Limb-Girdle Muscular Dystrophy Type 2e
|
Limb-Girdle Muscular Dystrophy 2e
|
|
|
| Polymyositis |
|
|
| Anterior Compartment Syndrome |
|
|
| 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
|
|
|
| Batten-Turner Congenital Myopathy |
|
Congenital Myopathy
|
Batten Turner Congenital Myopathy
|
|
Myopathy Congenital
|
Myopathy, Congenital
|
|
Myotonia Congenita
|
Benign Congenital Myopathy
|
|
|
| Limb-Girdle Muscular Dystrophy Type 1a |
|
Lgmd1a
|
Lgmd1
|
|
Muscular Dystrophy, Proximal, Type 1a
|
Limb-Girdle Muscular Dystrophy, Type 1a
|
|
Dystrophy, Muscular, Limb-Girdle, Type 1a
|
|
|
| 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
|
|
|
| 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
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
Lgmd2j
|
Muscular Dystrophy, Limb-Girdle, Type 2j
|
|
|
| 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
|
|
|
| Nonaka Myopathy |
|
Gne Myopathy
|
Hibm
|
|
Distal Myopathy With Rimmed Vacuoles
|
Hereditary Inclusion Body Myopathy
|
|
Ibm2
|
Inclusion Body Myopathy, Quadriceps-Sparing
|
|
Qsm
|
Dmrv
|
|
Distal Myopathy, Nonaka Type
|
Inclusion Body Myopathy 2
|
|
Inclusion Body Myopathy, Autosomal Recessive
|
NM
|
|
Nonaka Distal Myopathy
|
Myopathy, Distal, With Or Without Rimmed Vacuoles
|
|
Inclusion Body Myopathy, Hereditary, Autosomal Recessive
|
Inclusion Body Myopathy Type 2
|
|
Quadriceps-Sparing Myopathy
|
Quadriceps Sparing Myopathy
|
|
Rimmed Vacuole Myopathy
|
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
|
|
Ibm2, Formerly
|
Hibm2
|
|
Hereditary Inclusion Body Myopathy Type 2
|
Inclusion Body Myopathy 2, Autosomal Recessive
|
|
Myopathy, Distal, With Rimmed Vacuoles
|
Inclusion Body Myopathy Autosomal Recessive
|
|
Myopathy, Inclusion Body, Type 2
|
Myopathy, Nonaka
|
|
|
| Muscle Tissue Disease |
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x |
|
Lgmd2x
|
Muscular Dystrophy, Limb-Girdle, Type 2x
|
|
|
| Myopathy, Centronuclear, 2 |
|
Myopathy, Centronuclear, Autosomal Recessive
|
Autosomal Recessive Centronuclear Myopathy
|
|
CNM2
|
Centronuclear Myopathy 2
|
|
Ar-Cnm
|
Myotubular Myopathy, Autosomal Recessive
|
|
Autosomal Recessive Myotubular Myopathy
|
Centronuclear Myopathy Autosomal Recessive
|
|
Myopathy, Centronuclear, Type 2
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| 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
|
|
|
| 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
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m
|
Lgmd2m
|
|
MDDGC4
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
|
|
Lgmdr13
|
Muscular Dystrophy, Limb-Girdle, Type 2m
|
|
Muscular Dystrophy-Dystroglycanopathy Type C 4
|
Fukutin-Related Limb-Girdle Muscular Dystrophy R13
|
|
Autosomal Recessive Lgmd Type 2m
|
Fukutin-Related Lgmd R13
|
|
Lgmd Type 2m
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
|
|
Limb-Girdle Muscular Dystrophy Type 2m
|
Mdgd4c
|
|
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c
|
Dystrophy, Muscular, Limb-Girdle, Type 2m
|
|
|
| Autosomal Dominant Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant
|
|
|
| Myopathy, Distal, 4 |
|
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
|
MPD4
|
|
Williams Distal Myopathy
|
Distal Muscular Dystrophy 4
|
|
Distal Abd-Filaminopathy
|
Distal Myopathy 4
|
|
Myopathy, Distal, Type 4
|
|
|
| Myopathy, Myofibrillar, 3 |
|
Myotilinopathy
|
Myofibrillar Myopathy 3
|
|
MFM3
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
|
|
Lgmd1a
|
Muscular Dystrophy, Limb-Girdle, Type 1a
|
|
Myopathy, Myofibrillar, Myotilin-Related
|
Muscular Dystrophy, Limb-Girdle, Type 1, Formerly
|
|
Lgmd1, Formerly
|
Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly
|
|
Lgmd1a, Formerly
|
Qualitative Or Quantitative Defects Of Myotilin
|
|
Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency
|
Distal Myotilinopathy
|
|
Lgmd1
|
Limb-Girdle Muscular Dystrophy 1a
|
|
Mfm Myotilin-Related
|
Muscular Dystrophy, Limb-Girdle, Type 1
|
|
Myopathy Myofibrillar Myotylin-Related
|
Myopathy, Myofibrillar, Type 3
|
|
|
| Muscular Disease |
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Myopathy With Extrapyramidal Signs |
|
Proximal Myopathy With Extrapyramidal Signs
|
MPXPS
|
|
Myopathy, With Extrapyramidal Signs
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency
|
Lgmd2q
|
|
Muscular Dystrophy, Limb-Girdle, Type 2q
|
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
Rigid Spine Syndrome
|
RSMD1
|
|
Rss
|
Mdrs1
|
|
Eichsfeld Type Congenital Muscular Dystrophy
|
Desmin-Related Myopathy With Mallory Bodies
|
|
Classic Multiminicore Myopathy
|
Sepn1-Related Myopathy
|
|
Multicore Myopathy, Severe Classic Form
|
Minicore Myopathy, Severe Classic Form
|
|
Multiminicore Disease, Severe Classic Form
|
Muscular Dystrophy, Rigid Spine, 1
|
|
Classic Mmd
|
Classic Multiminicore Disease
|
|
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity
|
Desmin-Related Myopathy With Mallory Body-Like Inclusions
|
|
Early-Onset Desmin-Related Myopathy
|
Myopathy, Sepn1-Related
|
|
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
|
Muscular Dystrophy, Congenital, Eichsfeld Type
|
|
Severe Classic Form Minicore Myopathy
|
Severe Classic Form Multicore Myopathy
|
|
Severe Classic Form Multiminicore Disease
|
Desmin-Related Myopathies With Mallory Bodies
|
|
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
|
Rigid Spine Muscular Dystrophy-1
|
|
Rigid Spine Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Eichsfeld Type
|
|
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
|
Minicore Myopathy Severe Classic Form
|
|
Multicore Myopathy Severe Classic Form
|
Multiminicore Disease Severe Classic Form
|
|
Dystrophy, Muscular, Rigid Spine, Type 1
|
|
|
| Gnathodiaphyseal Dysplasia |
|
GDD
|
Osteogenesis Imperfecta With Unusual Skeletal Lesions
|
|
Gnathodiaphyseal Sclerosis
|
Osteogenesis Imperfecta, Levin Type
|
|
Levin Syndrome 2
|
Dysplasia, Gnathodiaphyseal
|
|
|
| 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
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscular Dystrophy, Limb-Girdle, Type 1e
|
Lgmd1d
|
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
|
LGMDD1
|
|
Lgmd1e
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1
|
|
Limb-Girdle Muscular Dystrophy Type 1d
|
Muscular Dystrophy, Limb-Girdle, Type 1d
|
|
Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly
|
Lgmd1d, Formerly
|
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e
|
Muscular Dystrophy Limb-Girdle Type 1d
|
|
Muscular Dystrophy Limb-Girdle Type 1e
|
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
|
|
Dnajb6-Related Lgmd D1
|
Lgmd Type 1d
|
|
Limb-Girdle Muscular Dystrophy 1e
|
Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant
|
|
Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1
|
Dystrophy, Muscular, Limb-Girdle, Type 1e
|
|
|
| Myopathy, Centronuclear, 1 |
|
Autosomal Dominant Centronuclear Myopathy
|
CNM1
|
|
Centronuclear Myopathy 1
|
Ad-Cnm
|
|
Myopathy, Centronuclear, Autosomal Dominant
|
Myotubular Myopathy, Autosomal Dominant
|
|
Centronuclear Myopathy, Autosomal, Modifier Of
|
Autosomal Dominant Myotubular Myopathy
|
|
Dnm2-Related Centronuclear Myopathy
|
Centronuclear Myopathy Autosomal Dominant
|
|
Myopathies, Structural, Congenital
|
Myopathy, Centronuclear, Type 1
|
|
|
| Myopathy, Myofibrillar, 1 |
|
Desmin-Related Myofibrillar Myopathy
|
Desmin-Related Myopathy
|
|
MFM1
|
Myopathy, Myofibrillar, Desmin-Related
|
|
Drm
|
Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
|
|
Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
|
Myofibrillar Myopathy 1
|
|
Desminopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2r
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
|
Desminopathy, Primary
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly
|
Arvd7, Formerly
|
|
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly
|
Arvc7, Formerly
|
|
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly
|
Ibm1, Formerly
|
|
Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly
|
Cmd1f And Lgmd1d, Formerly
|
|
Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy
|
Cdcd3, Formerly
|
|
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly
|
Lgmd2r, Formerly
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
|
Arrhythmogenic Right Ventricular Cardiomyopathy 7
|
|
Arvc7
|
Arvd7
|
|
Autosomal Dominant Inclusion Body Myopathy 1
|
Cdcd3
|
|
Cmd1f And Lgmd1d
|
Desminopathy Primary
|
|
Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d
|
Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy
|
|
Familial Arrhythmogenic Right Ventricular Dysplasia 7
|
Lgmd2r
|
|
Limb-Girdle Muscular Dystrophy 2r
|
Mfm Desmin-Related
|
|
Myopathy Myofibrillar Desmin-Related
|
Dystrophy, Muscular, Limb-Girdle, Type 2r
|
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
EDMD2
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
|
Emd2
|
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
|
Scapuloilioperoneal Atrophy With Cardiopathy
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
|
Hauptmann-Thannhauser Muscular Dystrophy
|
Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
|
Muscular Dystrophy, Limb-Girdle, Type 1b
|
|
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
|
Lgmd1b, Formerly
|
|
Muscular Dystrophy, Proximal, Type 1b, Formerly
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
|
Lgmd1b
|
Limb-Girdle Muscular Dystrophy 1b
|
|
Muscular Dystrophy, Proximal, Type 1b
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
|
|
| 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
|
|
|
| Deafness, Autosomal Recessive 9 |
|
Auditory Neuropathy, Autosomal Recessive, 1
|
Neurosensory Nonsyndromic Recessive Deafness 9
|
|
DFNB9
|
Nsrd9
|
|
Autosomal Recessive Nonsyndromic Deafness 9
|
Autosomal Recessive Deafness 9
|
|
Nrsd9
|
AUNB1
|
|
Nonsyndromic Auditory Neuropathy Autosomal Recessive
|
Nsran
|
|
Deafness, Autosomal Recessive, 9
|
Deafness Neurosensory Autosomal Recessive 9
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9
|
Non-Syndromic Recessive Hearing Loss 9
|
|
Deafness, Autosomal Recessive, Type 9
|
Auditory Neuropathy, Nonsyndromic Recessive
|
|
|
| Cardiomyopathy, Dilated, 1g |
|
Dilated Cardiomyopathy 1g
|
CMD1G
|
|
Cardiomyopathy, Dilated 1g
|
Cardiomyopathy, Dilated, Type 1g
|
|
|
| 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]
|
|
|
| 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]
|
|
|
| Centronuclear Myopathy |
|
Myopathy, Centronuclear
|
Myotubular Myopathy
|
|
Cnm
|
Myopathy, Myotubular
|
|
Congenital Structural Myopathy
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
|
Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Myopathy, Distal, 1 |
|
Laing Distal Myopathy
|
Laing Early-Onset Distal Myopathy
|
|
MPD1
|
Distal Myopathy 1
|
|
Myopathy, Distal, Early-Onset, Autosomal Dominant
|
Distal Myopathy Type 1
|
|
Gowers Disease
|
Myopathy, Late Distal Hereditary
|
|
Myopathy Distal, Type 1
|
Myopathy Distal Early-Onset Autosomal Dominant
|
|
Myopathy Late Distal Hereditary
|
Myopathy, Distal, Type 1
|
|
Welander Distal Myopathy
|
|
|
| Myopathy, Centronuclear, X-Linked |
|
X-Linked Myotubular Myopathy
|
Xlmtm
|
|
X-Linked Centronuclear Myopathy
|
Xlcnm
|
|
CNMX
|
Mtm1
|
|
Myotubular Myopathy, X-Linked
|
Mtmx
|
|
Myotubular Myopathy 1
|
Centronuclear Myopathy X-Linked
|
|
Myotubular Myopathy
|
Mtm
|
|
Cnm
|
Xmtm
|
|
Myotubular Myopathy Type 1
|
|
|
| Oculopharyngeal Muscular Dystrophy |
|
OPMD
|
Muscular Dystrophy, Oculopharyngeal
|
|
Dystrophy, Oculopharyngeal Muscular
|
Oculopharyngeal Dystrophy
|
|
Progressive Muscular Dystrophy, Oculopharyngeal Type
|
Muscular Dystrophy Oculopharyngeal
|
|
Dystrophy, Muscular, Oculopharyngeal
|
|
|
| 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
|
|
|
| Muscular Dystrophy, Duchenne Type |
|
Duchenne Muscular Dystrophy
|
DMD
|
|
Muscular Dystrophy, Duchenne
|
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
|
|
Severe Dystrophinopathy, Duchenne Type
|
Muscular Dystrophy Duchenne
|
|
Dystrophy, Muscular, Duchenne Type
|
Benign Duchenne Muscular Dystrophy
|
|
Duchenne Motor Neuron Disease
|
Duchenne Type Dystrophy
|
|
Duchenne-Griesinger Disease
|
|
|
| Congenital Fiber-Type Disproportion |
|
Congenital Fiber Type Disproportion
|
Cftdm
|
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
|
|
Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
|
|
Myopathy, Congenital With Fiber-Type Disproportion
|
|
|
| Malignant Hyperthermia |
|
Anesthesia Related Hyperthermia
|
Malignant Hyperpyrexia Due To Anesthesia
|
|
Hyperpyrexia, Malignant
|
Hyperthermia, Malignant
|
|
Malignant Hyperpyrexia
|
Mhs
|
|
Malignant Fever
|
|
|
| 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
|
|
|
