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01 609283 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Ophthalmoplegia, Chronic Progressive External 外眼筋麻痺-慢性進行性 MeSH lifesciencedb.jp
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Mitochondrial Myopathies ミトコンドリア筋症 MeSH lifesciencedb.jp
Cardiomegaly 心臓肥大 MeSH lifesciencedb.jp
Parkinsonian Disorders Parkinson症候群 MeSH lifesciencedb.jp
Cardiomyopathies 心筋疾患 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) 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
DNA-Directed DNA Polymerase DNA依存性DNAポリメラーゼ MeSH lifesciencedb.jp
DNA, Mitochondrial ミトコンドリアDNA MeSH lifesciencedb.jp
Adenine Nucleotide Translocator 1 アデニンヌクレオチドトランスロケーター1 MeSH lifesciencedb.jp
Mitochondrial ADP, ATP Translocases アデニンヌクレオチドトランスロカーゼ MeSH lifesciencedb.jp
DNA Primase プライマーゼ MeSH lifesciencedb.jp
DNA Helicases DNAヘリカーゼ MeSH lifesciencedb.jp
Viral Proteins ウイルス蛋白質 MeSH lifesciencedb.jp
Repressor Proteins レプレッサー蛋白質 MeSH lifesciencedb.jp
Isoenzymes アイソエンザイム MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Cell Respiration 細胞呼吸 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Transformation, Genetic 遺伝子形質転換 MeSH lifesciencedb.jp
Oxidative Phosphorylation 酸化的リン酸化 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Physical Exertion - MeSH lifesciencedb.jp
Oxygen Consumption 酸素消費 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 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
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Stem Cells 幹細胞 MeSH lifesciencedb.jp
Mitochondria, Muscle 筋ミトコンドリア MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Myocardium 心筋 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 3 ヒト第3染色体 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp



Organisms

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



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