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01 603041 MNGIE MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Mitochondrial Encephalomyopathies ミトコンドリア脳筋症 MeSH lifesciencedb.jp
Intestinal Pseudo-Obstruction 腸閉塞-偽性 MeSH lifesciencedb.jp
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Gastrointestinal Diseases 胃腸疾患 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Peripheral Nervous System Diseases 末梢神経系疾患 MeSH lifesciencedb.jp
Brain Diseases 脳疾患 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
MELAS Syndrome MELAS症候群 MeSH lifesciencedb.jp
Mitochondrial Diseases ミトコンドリア病 MeSH lifesciencedb.jp
Cytochrome-c Oxidase Deficiency シトクロムcオキシダーゼ欠損症 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Demyelinating Diseases 脱髄疾患 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Acute Disease 急性疾患 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Thymidine Phosphorylase チミジンホスホリラーゼ MeSH lifesciencedb.jp
DNA, Mitochondrial ミトコンドリアDNA MeSH lifesciencedb.jp
Deoxyuridine デオキシウリジン MeSH lifesciencedb.jp
Thymidine チミジン MeSH lifesciencedb.jp
DNA-Directed DNA Polymerase DNA依存性DNAポリメラーゼ MeSH lifesciencedb.jp
Nucleosides ヌクレオシド MeSH lifesciencedb.jp
RNA, Transfer トランスファーRNA MeSH lifesciencedb.jp
Electron Transport Complex I 電子伝達複合体I MeSH lifesciencedb.jp
Valine バリン MeSH lifesciencedb.jp
Mitochondrial Proteins ミトコンドリア蛋白質 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Leucine ロイシン MeSH lifesciencedb.jp
Glycine アミノ酢酸 MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
RNA リボ核酸 MeSH lifesciencedb.jp
Biological Markers 生物学的マーカー MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Biochemistry 生化学 MeSH lifesciencedb.jp
Gastrointestinal Motility 胃腸運動 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Neovascularization, Physiologic 生理的血管新生 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Oxidative Phosphorylation 酸化的リン酸化 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Nucleic Acid Conformation 核酸高次構造 MeSH lifesciencedb.jp
Substrate Specificity 基質特異性 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Open Reading Frames オープンリーディングフレーム MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Sequence Homology, Nucleic Acid 核酸配列相同性 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Kinetics 運動力学 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Dose-Response Relationship, Drug 薬物用量効果相互関係 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 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
Age of Onset 発病年齢 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
Polymorphism, Genetic 遺伝子多型 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
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Mitochondria ミトコンドリア MeSH lifesciencedb.jp
Pharynx 咽頭 MeSH lifesciencedb.jp
Mitochondria, Liver 肝ミトコンドリア MeSH lifesciencedb.jp
Digestive System 消化器系 MeSH lifesciencedb.jp
Oculomotor Muscles 眼筋 MeSH lifesciencedb.jp
Eye 眼 MeSH lifesciencedb.jp
Axons 軸索 MeSH lifesciencedb.jp
Intestine, Small 小腸 MeSH lifesciencedb.jp
Cell Nucleus 細胞核 MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


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