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01 607459 SANDO SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS - 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
Ataxia 運動失調症 MeSH lifesciencedb.jp
Dysarthria 構語障害 MeSH lifesciencedb.jp
Thalamic Diseases 視床疾患 MeSH lifesciencedb.jp
Brain Diseases, Metabolic, Inborn 脳疾患-代謝性-先天性 MeSH lifesciencedb.jp
Gait Disorders, Neurologic 歩行障害-神経性 MeSH lifesciencedb.jp
Heredodegenerative Disorders, Nervous System 神経系変性遺伝性障害 MeSH lifesciencedb.jp
Mitochondrial Diseases ミトコンドリア病 MeSH lifesciencedb.jp
Mitochondrial Myopathies ミトコンドリア筋症 MeSH lifesciencedb.jp
Migraine Disorders 片頭痛 MeSH lifesciencedb.jp
Hereditary Sensory and Motor Neuropathy 遺伝性運動感覚性ニューロパシー MeSH lifesciencedb.jp
Neurodegenerative Diseases 神経変性疾患 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Spinocerebellar Degenerations 脊髄小脳変性症 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Epilepsy てんかん MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Dementia 認知症 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Syndrome 症候群 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
Succinate Dehydrogenase コハク酸オキシダーゼ MeSH lifesciencedb.jp
Electron Transport Complex IV 電子伝達複合体IV MeSH lifesciencedb.jp
DNA Helicases DNAヘリカーゼ 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
DNA Primase プライマーゼ MeSH lifesciencedb.jp
Tryptophan トリプトファン MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
Codon コドン 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, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Germ-Line Mutation 生殖細胞系変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Mutation 変異 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



Anatomy

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MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Thalamus 視床 MeSH lifesciencedb.jp
Nerve Fibers, Myelinated 有髄神経線維 MeSH lifesciencedb.jp
Brain Stem 脳幹 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
Cerebellum 小脳 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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