疾病名称 |
别名 |
|
Nemaline Myopathy 2 |
NEM2
|
Nemaline Myopathy 2, Autosomal Recessive
|
Nemaline Myopathy, Type 2
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Neb-Related Nemaline Myopathy
|
Myopathy, Nemaline, Type 2
|
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Arthrogryposis Multiplex Congenita 6 |
AMC6
|
Arthrogryposis Multiplex Congenita-6
|
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Nemaline Myopathy |
Rod Myopathy
|
Nemaline Body Disease
|
Nemaline Rod Myopathy
|
Myopathies, Nemaline
|
Nm
|
Nemaline Rod Disease
|
Rod Body Disease
|
Rod-Body Myopathy
|
Myopathy, Nemaline
|
Congenital Rod Disease
|
Nem
|
Nemaline Bodies
|
Myopathies Nemaline
|
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Distal Nebulin Myopathy |
Nebulin-Related Early-Onset Distal Myopathy
|
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Intermediate Congenital Nemaline Myopathy |
Intermediate Nemaline Myopathy
|
Intermediate Congenital Nm
|
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Typical Congenital Nemaline Myopathy |
Typical Nemaline Myopathy
|
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Severe Congenital Nemaline Myopathy |
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Childhood-Onset Nemaline Myopathy |
Mild Nemaline Myopathy
|
Nemaline Myopathy, Childhood Onset
|
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Multiple Pterygium Syndrome, Lethal Type |
LMPS
|
Lethal Multiple Pterygium Syndrome
|
Pterygium Syndrome, Multiple, Lethal Type
|
Multiple Pterygium Syndrome Lethal Type
|
Pterygium Syndrome Multiple Lethal Type
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Autosomal Recessive Lethal Multiple Pterygium Syndrome
|
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Myopathy |
Muscular Diseases
|
Myopathies
|
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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
|
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Congenital Structural Myopathy |
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Batten-Turner Congenital Myopathy |
Congenital Myopathy
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Batten Turner Congenital Myopathy
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Myopathy Congenital
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Myopathy, Congenital
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Myotonia Congenita
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Benign Congenital Myopathy
|
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Central Core Disease Of Muscle |
Central Core Disease
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Central Core Myopathy
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CCD
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Cco
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Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber
|
Myopathy, Central Core
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Shy-Magee Syndrome
|
Muscle Core Disease
|
Muscular Central Core Disease
|
Myopathy, Central Fibrillar
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Shy'S Disease
|
Moderate Multiminicore Disease With Hand Involvement
|
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Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Myositis |
Idiopathic Inflammatory Myopathy
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Idiopathic Inflammatory Myositis
|
Iim
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Imm
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Idiopathic Inflammatory Myopathies
|
Myopathy, Familial Idiopathic Inflammatory
|
Inflammatory Disorder Of Muscle
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Idiopathic Inflammatory Myopathy, Familial
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Inflammatory Myopathy, Idiopathic
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Myopathies Idiopathic Inflammatory
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Familial Idiopathic Inflammatory Myopathy
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Hyaline Body Myopathy |
Myosin Storage Myopathy
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Autosomal Dominant Hyaline Body Myopathy
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Myopathy, Myosin Storage
|
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Tibial Muscular Dystrophy |
Tmd
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Udd Myopathy
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Distal Titinopathy
|
Finnish Tibial Muscular Dystrophy
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Tardive Tibial Muscular Dystrophy
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Udd Type Distal Myopathy
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Udd Distal Myopathy
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Udd-Markesbery Muscular Dystrophy
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Distal Myopathy, Udd Type
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Distal Myopathies
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Tibial Muscular Dystrophy, Tardive
|
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Myopathy, Myofibrillar, 4 |
Myofibrillar Myopathy 4
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MFM4
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Zaspopathy
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Myopathy, Myofibrillar, Zasp-Related
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Multiple Pterygium Syndrome, Escobar Variant |
Multiple Pterygium Syndrome
|
Pterygium
|
Escobar Syndrome
|
EVMPS
|
Pterygium Syndrome
|
Autosomal Recessive Multiple Pterygium Syndrome
|
Pterygium Colli Syndrome
|
Pterygium Universale
|
Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome
|
Escobar Variant Multiple Pterygium Syndrome
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Multiple Pterygium Syndrome, Nonlethal Type
|
Surfer'S Eye
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Multiple Pterygium Syndrome Escobar Type
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Multiple Pterygium Syndrome Nonlethal Type
|
Familial Pterygium Syndrome
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Pterygium Colli
|
Multiple Pterygium Syndrome, Non-Lethal Type
|
Nonlethal Type Multiple Pterygium Syndrome
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Pterygium Syndrome, Multiple, Escobar Type
|
Pterygium Of Eye
|
Web Eye
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Nemaline Myopathy 5 |
Amish Nemaline Myopathy
|
NEM5
|
Anm
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Nemaline Myopathy, Amish Type
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Nemaline Myopathy 5, Amish Type
|
Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene
|
Nemaline Myopathy, Type 5
|
Nemaline Myopathy Amish Type
|
Tnnt1-Related Nemaline Myopathy
|
Myopathy, Nemaline, Type 5
|
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Congenital Fiber-Type Disproportion |
Congenital Fiber Type Disproportion
|
Cftdm
|
Congenital Myopathy With Fiber Type Disproportion
|
Cftd
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Congenital Fiber-Type Disproportion Myopathy
|
Fiber-Type Disproportion Myopathy, Congenital
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Myopathy, Congenital With Fiber-Type Disproportion
|
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Myopathy, Spheroid Body |
Spheroid Body Myopathy
|
Autosomal Dominant Spheroid Body Myopathy
|
SBM
|
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Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
Jacobs Syndrome
|
Arthropathy-Camptodactyly Syndrome
|
Pericarditis-Arthropathy-Camptodactyly Syndrome
|
Xyy Syndrome
|
Pac Syndrome
|
Cacp Syndrome
|
CACP
|
Fibrosing Serositis, Familial
|
Camptodactyly-Arthropathy-Pericarditis Syndrome
|
Cap Syndrome
|
47, Xyy Syndrome
|
47,Xyy Syndrome
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Double Y Syndrome
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Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
|
Hypertrophic Synovitis, Congenital Familial
|
Congenital Familial Hypertrophic Synovitis
|
Xyy Karyotype
|
Y Disomy
|
Yy Syndrome
|
Familial Fibrosing Serositis
|
Disomy Y
|
Double Y
|
Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome
|
Arthropathy Camptodactyly Syndrome
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Camptodactyly Arthropathy Pericarditis Syndrome
|
Pericarditis Arthropathy Camptodactyly Syndrome
|
Jacob'S Syndrome
|
47,Xyy
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Cdags Syndrome
|
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Nemaline Myopathy 8 |
NEM8
|
Nemaline Myopathy 8, Autosomal Recessive
|
Myopathy, Nemaline, Type 8
|
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Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
Hereditary Myopathy With Early Respiratory Failure
|
Hmerf
|
Myopathy, Proximal, With Early Respiratory Muscle Involvement
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Edstrom Myopathy
|
Mfm-Titinopathy
|
MFM9
|
Mprm
|
Hereditary Inclusion Body Myopathy With Early Respiratory Failure
|
Hibm-Erf
|
Myofibrillar Myopathy-Titinopathy
|
Myofibrillar Myopathy With Early Respiratory Failure
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Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant
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Myofibrillar Myopathy 9
|
Myofibrillar Myopathy 9 With Early Respiratory Failure
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Autosomal Dominant Distal Myopathy With Early Respiratory Failure
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Proximal Myopathy With Early Respiratory Muscle Involvement
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Hereditary Proximal Myopathy With Early Respiratory Failure
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Admerf
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Edström Myopathy
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Hmerf-Erf
|
|
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Haverhill Fever |
Streptobacillosis
|
Streptobacillary Rat-Bite Fever
|
Streptobacillary Fever
|
Rat-Bite Fever Due To Streptobacillus Moniliformis
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Erythema Arthriticum Epidemicum
|
Epidemic Arthritic Erythema
|
|
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Noonan Syndrome 2 |
NS2
|
Noonan Syndrome, Autosomal Recessive
|
Noonan Syndrome 2, Autosomal Recessive
|
Noonan Syndrome, Type 2
|
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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]
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Limb Girdle Muscle Dystrophy
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Limb-Girdle Myopathy
|
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Myopathy, Myofibrillar, 1 |
Desmin-Related Myofibrillar Myopathy
|
Desmin-Related Myopathy
|
MFM1
|
Myopathy, Myofibrillar, Desmin-Related
|
Drm
|
Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
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Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
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Myofibrillar Myopathy 1
|
Desminopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2r
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Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
|
Desminopathy, Primary
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly
|
Arvd7, Formerly
|
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly
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Arvc7, Formerly
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Inclusion Body Myopathy 1, Autosomal Dominant, Formerly
|
Ibm1, Formerly
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Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly
|
Cmd1f And Lgmd1d, Formerly
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Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy
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Cdcd3, Formerly
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Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly
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Lgmd2r, Formerly
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
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Arrhythmogenic Right Ventricular Cardiomyopathy 7
|
Arvc7
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Arvd7
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Autosomal Dominant Inclusion Body Myopathy 1
|
Cdcd3
|
Cmd1f And Lgmd1d
|
Desminopathy Primary
|
Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d
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Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy
|
Familial Arrhythmogenic Right Ventricular Dysplasia 7
|
Lgmd2r
|
Limb-Girdle Muscular Dystrophy 2r
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Mfm Desmin-Related
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Myopathy Myofibrillar Desmin-Related
|
Dystrophy, Muscular, Limb-Girdle, Type 2r
|
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Distal Arthrogryposis |
Arthrogryposis Multiplex Congenita
|
Arthrogryposis
|
Congenital Multiple Arthrogryposis
|
Congenital Arthromyodysplasia
|
Fibrous Ankylosis Of Multiple Joints
|
Guerin-Stern Syndrome
|
Guérin-Stern Syndrome
|
Myodystrophia Fetalis Deformans
|
Otto Syndrome
|
Rocher-Sheldon Syndrome
|
Rossi Syndrome
|
Amc
|
Multiple Congenital Arthrogryposis
|
Arthrogryposis Syndrome
|
Arthrogryposis, Distal
|
Distal Arthrogryposis Syndrome
|
Freeman-Sheldon Syndrome
|
Arthrogryposis, Distal, Type 2b
|
Congenital Multiplex Arthrogryposis
|
Amyoplasia Congenita
|
Congenital Amyoplasia
|
Amc - [Arthrogryposis Multiplex Congenita]
|
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Endocardial Fibroelastosis |
Endomyocardial Fibroelastosis
|
Elastomyofibrosis
|
EFE
|
Efe - [Endocardial Fibroelastosis]
|
Primary Endocardial Fibroelastosis
|
Fibroelastosis Cordis
|
Fetal Endocarditis
|
Fibroelastosis
|
Congenital Endocardial Fibroelastosis
|
Congenital Valvular Endocarditis
|
|
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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
|
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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]
|
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Multiminicore Disease |
Multiminicore Myopathy
|
Mmd
|
Minicore Disease
|
Minicore Myopathy
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Multi-Core Congenital Myopathy
|
Multi-Core Disease
|
Multi-Minicore Disease
|
Multicore Disease
|
Multicore Myopathy
|
Minicore Myopathy With External Ophthalmoplegia
|
|
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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
|
|
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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
Lgmd2j
|
Muscular Dystrophy, Limb-Girdle, Type 2j
|
|
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Cardiomyopathy, Familial Hypertrophic, 1 |
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
Ventricular Hypertrophy, Hereditary
|
Ash
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
Hcm
|
Hereditary Ventricular Hypertrophy
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
Cardiomyopathy, Hypertrophic, Familial
|
Cardiomyopathy, Hypertrophic, 1
|
Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
Fhc
|
Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
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Centronuclear Myopathy |
Myopathy, Centronuclear
|
Myotubular Myopathy
|
Cnm
|
Myopathy, Myotubular
|
Congenital Structural Myopathy
|
|
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Muscle Tissue Disease |
|
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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
|
|
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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
|
|
|
Muscular Disease |
|
|
Strabismus |
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
Strabismus 1
|
|
|
Physical Disorder |
|
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Autosomal Recessive Limb-Girdle Muscular Dystrophy |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
Left Ventricular Noncompaction |
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
Lvnc
|
Spongy Myocardium
|
Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
Fetal Myocardium
|
Honeycomb Myocardium
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
|
|
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
|
|
|
Hypertrophic Cardiomyopathy |
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
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
|
|
|