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01 610003 - CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Epilepsy てんかん MeSH lifesciencedb.jp
Neuronal Ceroid-Lipofuscinoses 神経性セロイドリポフスチン沈着症 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Brain Damage, Chronic 脳損傷-慢性 MeSH lifesciencedb.jp
Epilepsy, Tonic-Clonic てんかん-強直間代性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Molecular Chaperones 分子シャペロン MeSH lifesciencedb.jp
Endopeptidases エンドペプチダーゼ MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Membrane Glycoproteins 膜糖蛋白質 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


Biological Phenomena

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genomic Library ゲノムライブラリー MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 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
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Tissue Distribution 組織内分布 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 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 8 ヒト第8染色体 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Mice, Mutant Strains 変異系マウス 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