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01 157640 - PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Ophthalmoplegia, Chronic Progressive External 外眼筋麻痺-慢性進行性 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Hypogonadism 性機能低下症 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Parkinsonian Disorders Parkinson症候群 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Rhabdomyolysis 横紋筋融解症 MeSH lifesciencedb.jp
Coma Coma MeSH lifesciencedb.jp
Myoglobinuria ミオグロビン尿症 MeSH lifesciencedb.jp
Mitochondrial Encephalomyopathies ミトコンドリア脳筋症 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
腎不全-急性 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Cerebellar Ataxia 運動失調症-小脳性 MeSH lifesciencedb.jp
Multiple Sclerosis 多発性硬化症 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 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
DNA, Mitochondrial ミトコンドリアDNA MeSH lifesciencedb.jp
DNA-Directed DNA Polymerase DNA依存性DNAポリメラーゼ 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
Central Nervous System Depressants 中枢神経系抑制剤 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
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
Ethanol エタノール MeSH lifesciencedb.jp
Mitochondrial Proteins ミトコンドリア蛋白質 MeSH lifesciencedb.jp
HLA Antigens HLA抗原 MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク 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
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Menopause, Premature 閉経-早発 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Causality 因果律 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
DNA Replication DNA複製 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Longitudinal Studies 縦断研究 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
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
Radial Nerve 橈骨神経 MeSH lifesciencedb.jp
Tibial Nerve 脛骨神経 MeSH lifesciencedb.jp
Ulnar Nerve 尺骨神経 MeSH lifesciencedb.jp
Neurons, Afferent 求心性ニューロン MeSH lifesciencedb.jp
Peroneal Nerve 腓骨神経 MeSH lifesciencedb.jp
Median Nerve 正中神経 MeSH lifesciencedb.jp
Mitochondria, Liver 肝ミトコンドリア MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Motor Neurons 運動ニューロン MeSH lifesciencedb.jp
Sural Nerve 腓腹神経 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Cell Nucleus 細胞核 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 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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