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01 605588 - CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth病 MeSH lifesciencedb.jp
Cardiomyopathy, Dilated 心筋症-拡張型 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー 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
Lamin Type A ラミンA MeSH lifesciencedb.jp
Thymopoietins チモポエチン MeSH lifesciencedb.jp
Lamins 核ラミン MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Myelin P0 Protein ミエリンP0蛋白質 MeSH lifesciencedb.jp
Desmin デスミン MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Dystrophin ジストロフィン MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー 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
Consanguinity 血族 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
src Homology Domains src相同ドメイン MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Plasmids プラスミド MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Electrophysiology 電気生理学 MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Nuclear Envelope 核膜 MeSH lifesciencedb.jp
Axons 軸索 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Sciatic Nerve 坐骨神経 MeSH lifesciencedb.jp
Cytoskeleton 細胞骨格 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
Myocardium 心筋 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Mice, Knockout ノックアウトマウス MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



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