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01 607155 LGMD2I MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Muscular Dystrophies, Limb-Girdle 筋ジストロフィー-肢帯型 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp
Muscular Dystrophy, Duchenne 筋ジストロフィー-Duchenne型 MeSH lifesciencedb.jp
Respiratory Insufficiency 呼吸不全 MeSH lifesciencedb.jp
Hypoventilation 呼吸低下 MeSH lifesciencedb.jp
Ventricular Dysfunction, Left 左心室機能障害 MeSH lifesciencedb.jp
Muscle Weakness 筋力低下 MeSH lifesciencedb.jp
Heart Failure Heart Failure MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Heart Diseases 心臓疾患 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Proteins 蛋白質 MeSH lifesciencedb.jp
Laminin メロシン MeSH lifesciencedb.jp
Dystroglycans ジストログリカン MeSH lifesciencedb.jp
Cytoskeletal Proteins 細胞骨格蛋白質 MeSH lifesciencedb.jp
Membrane Glycoproteins 膜糖蛋白質 MeSH lifesciencedb.jp
Creatine Kinase クレアチンキナーゼ MeSH lifesciencedb.jp
Calpain カルシウム依存性中性プロテイナーゼ MeSH lifesciencedb.jp
Codon, Terminator 終止コドン MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Physical Endurance 身体持久力 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Codon, Terminator 終止コドン MeSH lifesciencedb.jp
Exercise 身体運動 MeSH lifesciencedb.jp
Protein Processing, Post-Translational 翻訳後蛋白質プロセシング MeSH lifesciencedb.jp
Vital Capacity 肺活量 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Glycosylation - MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Prospective Studies 前向き研究 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Peripheral Nervous System 末梢神経系 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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