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01 208920 EAOH ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Apraxias 失行症 MeSH lifesciencedb.jp
Spinocerebellar Degenerations 脊髄小脳変性症 MeSH lifesciencedb.jp
Ataxia 運動失調症 MeSH lifesciencedb.jp
Oculomotor Nerve Diseases 動眼神経疾患 MeSH lifesciencedb.jp
Hypoalbuminemia 低アルブミン血症 MeSH lifesciencedb.jp
Cerebellar Ataxia 運動失調症-小脳性 MeSH lifesciencedb.jp
Peripheral Nervous System Diseases 末梢神経系疾患 MeSH lifesciencedb.jp
Ataxia Telangiectasia 運動失調症-毛細血管拡張性 MeSH lifesciencedb.jp
Atrophy 萎縮 MeSH lifesciencedb.jp
Ocular Motility Disorders 眼球運動障害 MeSH lifesciencedb.jp
Hyperlipoproteinemia Type II 高コレステロール血症-家族性 MeSH lifesciencedb.jp
Hyperlipidemias 高脂質血症 MeSH lifesciencedb.jp
Spinocerebellar Ataxias 脊髄小脳失調 MeSH lifesciencedb.jp
DNA Damage DNA損傷 MeSH lifesciencedb.jp
Myoclonic Cerebellar Dyssynergia 小脳性共同運動障害 MeSH lifesciencedb.jp
Fasciculation 線維束性れん縮 MeSH lifesciencedb.jp
Sensation Disorders 感覚障害 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Vitamin E Deficiency ビタミンE欠乏症 MeSH lifesciencedb.jp
Nystagmus, Pathologic 眼振 MeSH lifesciencedb.jp
Optic Atrophy 視神経萎縮 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
Muscle Weakness 筋力低下 MeSH lifesciencedb.jp
Hematologic Diseases 血液疾患 MeSH lifesciencedb.jp
Friedreich Ataxia Friedreich運動失調症 MeSH lifesciencedb.jp
Dystonia ジストニア MeSH lifesciencedb.jp
Movement Disorders 運動障害 MeSH lifesciencedb.jp
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Demyelinating Diseases 脱髄疾患 MeSH lifesciencedb.jp
Charcot-Marie-Tooth Disease Charcot-Marie-Tooth病 MeSH lifesciencedb.jp
Nerve Degeneration 神経変性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Deafness 聾 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
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Serum Albumin 血清アルブミン MeSH lifesciencedb.jp
Ubiquinone 補酵素Q MeSH lifesciencedb.jp
Electron Transport Complex III 電子伝達複合体III MeSH lifesciencedb.jp
DNA Repair Enzymes DNA修復酵素類 MeSH lifesciencedb.jp
Coenzymes 補酵素 MeSH lifesciencedb.jp
alpha-Fetoproteins アルファ-フェトプロテイン MeSH lifesciencedb.jp
gamma-Globulins ガンマ-グロブリン MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Creatine Kinase クレアチンキナーゼ MeSH lifesciencedb.jp
Cell Cycle Proteins 細胞周期蛋白質 MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Tumor Suppressor Proteins 腫瘍抑制蛋白質 MeSH lifesciencedb.jp
Cholesterol コレステリン MeSH lifesciencedb.jp
Protein-Serine-Threonine Kinases セリン-トレオニン-プロテインキナーゼ MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
Immunoglobulin G 免疫グロブリンG MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Eye Movements 眼球運動 MeSH lifesciencedb.jp
DNA Damage DNA損傷 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Lod Score ロッドスコア 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
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Zinc Fingers 亜鉛フィンガー MeSH lifesciencedb.jp
Phylogeny 系統発生 MeSH lifesciencedb.jp
Psychomotor Performance 精神運動能力 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Cell Survival 細胞生存 MeSH lifesciencedb.jp
DNA Repair DNA修復 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Comorbidity 共存疾患 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 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
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Oculomotor Muscles 眼筋 MeSH lifesciencedb.jp
Sural Nerve 腓腹神経 MeSH lifesciencedb.jp
Tibial Nerve 脛骨神経 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Median Nerve 正中神経 MeSH lifesciencedb.jp
Purkinje Cells Purkinje細胞 MeSH lifesciencedb.jp
Peripheral Nerves 末梢神経 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp
Lymphocytes リンパ球 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science