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01 158810 - BETHLEM MYOPATHY - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Distal Myopathies 筋疾患-遠位型 MeSH lifesciencedb.jp
Torticollis 斜頸 MeSH lifesciencedb.jp
Clubfoot 内反足 MeSH lifesciencedb.jp
Muscle Weakness 筋力低下 MeSH lifesciencedb.jp
Necrosis 壊死 MeSH lifesciencedb.jp
Cardiomyopathies 心筋疾患 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Collagen Type VI コラーゲンVI型 MeSH lifesciencedb.jp
Collagen 膠原 MeSH lifesciencedb.jp
Creatine Kinase クレアチンキナーゼ MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
von Willebrand Factor von Willebrand因子 MeSH lifesciencedb.jp
Protein Subunits 蛋白質サブユニット MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Genomics ゲノミクス MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Child Development 小児の発達 MeSH lifesciencedb.jp
Respiration 呼吸 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Motor Activity 運動活性 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Necrosis 壊死 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Cross-Sectional Studies 断面研究 MeSH lifesciencedb.jp
Consanguinity 血族 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
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Respiratory Muscles 呼吸筋 MeSH lifesciencedb.jp
Extremities 四肢 MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Adipose Tissue 脂肪組織 MeSH lifesciencedb.jp
Motor Neurons 運動ニューロン MeSH lifesciencedb.jp
Mitochondria, Muscle 筋ミトコンドリア MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science