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01 255320 - MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Muscle Weakness 筋力低下 MeSH lifesciencedb.jp
Myopathies, Structural, Congenital 筋障害-先天性構造性 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Ophthalmoplegia, Chronic Progressive External 外眼筋麻痺-慢性進行性 MeSH lifesciencedb.jp
Mitochondrial Myopathies ミトコンドリア筋症 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Ryanodine Receptor Calcium Release Channel リアノジン受容体 MeSH lifesciencedb.jp
Selenoproteins セレノプロテイン MeSH lifesciencedb.jp
Acyl-CoA Dehydrogenase アシルCoAデヒドロゲナーゼ MeSH lifesciencedb.jp
Acyl-CoA Dehydrogenases アシルCoAデヒドロゲナーゼ類 MeSH lifesciencedb.jp
Carnitine カルニチン MeSH lifesciencedb.jp
Actins アクチン MeSH lifesciencedb.jp
Muscle Proteins 筋蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Muscle Fibers, Skeletal 筋線維 MeSH lifesciencedb.jp
Nerve Endings 神経終末 MeSH lifesciencedb.jp
Sarcomeres 筋節 MeSH lifesciencedb.jp
Ligaments 靱帯 MeSH lifesciencedb.jp
Cardiovascular System 循環器系 MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp
Oculomotor Muscles 眼筋 MeSH lifesciencedb.jp
Endoplasmic Reticulum 小胞体 MeSH lifesciencedb.jp
Respiratory System 呼吸器系 MeSH lifesciencedb.jp
Axons 軸索 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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