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01 236270 - HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Homocystinuria ホモシスチン尿症 MeSH lifesciencedb.jp
Anemia, Megaloblastic 貧血-巨赤芽球性 MeSH lifesciencedb.jp
Anemia, Macrocytic 貧血-大赤血球性 MeSH lifesciencedb.jp
Vitamin B 12 Deficiency ビタミンB12欠乏症 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Amino Acid Metabolism, Inborn Errors アミノ酸代謝異常-先天性 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase テトラヒドロプテロイルグルタミン酸メチルトランスフェラーゼ MeSH lifesciencedb.jp
Vitamin B 12 コバラミン MeSH lifesciencedb.jp
Ferredoxin-NADP Reductase アドレノドキシンレダクターゼ MeSH lifesciencedb.jp
Hydroxocobalamin ヒドロキソコバラミン MeSH lifesciencedb.jp
Methionine メチオニン MeSH lifesciencedb.jp
Homocysteine ホモシステイン MeSH lifesciencedb.jp
Folic Acid ビタミンM MeSH lifesciencedb.jp
Tetrahydrofolates テトラヒドロ葉酸 MeSH lifesciencedb.jp
Cobamides コバミド MeSH lifesciencedb.jp
Betaine オキシノイリン MeSH lifesciencedb.jp
Propionates プロピオン酸塩 MeSH lifesciencedb.jp
Serine セリン MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Recombinant Fusion Proteins 組換え融合蛋白質 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
Genes, Synthetic 合成遺伝子 MeSH lifesciencedb.jp
Erythrocyte Indices 赤血球指数 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Cell Line, Transformed 形質転換細胞系 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science