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01 270550 SACS SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Muscle Spasticity 筋痙縮 MeSH lifesciencedb.jp
Ataxia 運動失調症 MeSH lifesciencedb.jp
Spinocerebellar Degenerations 脊髄小脳変性症 MeSH lifesciencedb.jp
Friedreich Ataxia Friedreich運動失調症 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Gait Disorders, Neurologic 歩行障害-神経性 MeSH lifesciencedb.jp
Dysarthria 構語障害 MeSH lifesciencedb.jp
Nystagmus, Pathologic 眼振 MeSH lifesciencedb.jp
Cerebellar Diseases 小脳疾患 MeSH lifesciencedb.jp
Spastic Paraplegia, Hereditary 痙性対麻痺-遺伝性 MeSH lifesciencedb.jp
Speech Disorders 発話障害 MeSH lifesciencedb.jp
Hearing Loss 難聴 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 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
Syndrome 症候群 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Heat-Shock Proteins ストレス蛋白質 MeSH lifesciencedb.jp
Sarcoglycans サルコグリカン MeSH lifesciencedb.jp
Cytoskeletal Proteins 細胞骨格蛋白質 MeSH lifesciencedb.jp
Membrane Glycoproteins 膜糖蛋白質 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
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Evoked Potentials, Somatosensory 体性感覚誘発電位 MeSH lifesciencedb.jp
Prevalence 有病率 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Evoked Potentials, Visual 視覚誘発電位 MeSH lifesciencedb.jp
Incidence 発生率 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Open Reading Frames オープンリーディングフレーム MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Genetics, Population 集団遺伝学 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Point Mutation 点変異 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
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 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
Cerebellum 小脳 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Peroneal Nerve 腓骨神経 MeSH lifesciencedb.jp
Nerve Fibers, Myelinated 有髄神経線維 MeSH lifesciencedb.jp
Sural Nerve 腓腹神経 MeSH lifesciencedb.jp
Cranial Fossa, Posterior 後頭蓋窩 MeSH lifesciencedb.jp
Cisterna Magna 大槽 MeSH lifesciencedb.jp
Afferent Pathways 求心性経路 MeSH lifesciencedb.jp
Peripheral Nerves 末梢神経 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Arabidopsis シロイヌナズナ属 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science