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01 251100 - METHYLMALONIC ACIDURIA, cblA TYPE - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Amino Acid Metabolism, Inborn Errors アミノ酸代謝異常-先天性 MeSH lifesciencedb.jp
Metabolism, Inborn Errors 代謝異常-先天性 MeSH lifesciencedb.jp
Acidosis アシドーシス MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Malonates マロン酸塩 MeSH lifesciencedb.jp
Methylmalonic Acid メチルマロン酸 MeSH lifesciencedb.jp
Vitamin B 12 コバラミン MeSH lifesciencedb.jp
Cobamides コバミド MeSH lifesciencedb.jp
Methylmalonyl-CoA Mutase メチルマロニルCoAイソメラーゼ MeSH lifesciencedb.jp
Isomerases 異性化酵素 MeSH lifesciencedb.jp
Propionates プロピオン酸塩 MeSH lifesciencedb.jp
Succinates コハク酸塩 MeSH lifesciencedb.jp
Coenzyme A 補酵素A MeSH lifesciencedb.jp
Carbon Dioxide 二酸化炭素 MeSH lifesciencedb.jp
Carbon Isotopes 炭素同位体 MeSH lifesciencedb.jp
Xanthurenates キサンツレ酸塩 MeSH lifesciencedb.jp
Apoenzymes アポ酵素 MeSH lifesciencedb.jp
Dithiothreitol ジチオトレイトール MeSH lifesciencedb.jp
Pyridoxal Phosphate ピリドキサールリン酸 MeSH lifesciencedb.jp
Apoproteins アポ蛋白質 MeSH lifesciencedb.jp
Ketone Bodies アセトン体 MeSH lifesciencedb.jp
Hydro-Lyases 脱水酵素 MeSH lifesciencedb.jp
Coenzymes 補酵素 MeSH lifesciencedb.jp
Dietary Proteins 食品中の蛋白質 MeSH lifesciencedb.jp
Mitochondrial Proteins ミトコンドリア蛋白質 MeSH lifesciencedb.jp
Magnesium マグネシウム MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Ligases 合成酵素 MeSH lifesciencedb.jp
Glycine アミノ酢酸 MeSH lifesciencedb.jp
Membrane Transport Proteins 膜輸送蛋白質 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Cell Fusion 細胞融合 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Molecular Biology 分子生物学 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Organ Specificity 臓器特異性 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
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 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
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 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
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Subcellular Fractions 細胞成分分画 MeSH lifesciencedb.jp
Amniotic Fluid 羊水 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Leukocytes 白血球 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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