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01 609015 - TRIFUNCTIONAL PROTEIN DEFICIENCY - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Lipid Metabolism, Inborn Errors 脂質代謝異常-先天性 MeSH lifesciencedb.jp
Myoglobinuria ミオグロビン尿症 MeSH lifesciencedb.jp
Rhabdomyolysis 横紋筋融解症 MeSH lifesciencedb.jp
Fatty Liver 脂肪肝 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
HELLP Syndrome HELLP症候群 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Hypocalcemia 低カルシウム血症 MeSH lifesciencedb.jp
Death, Sudden 突然死 MeSH lifesciencedb.jp
Mitochondrial Myopathies ミトコンドリア筋症 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
Hypoparathyroidism 上皮小体機能低下症 MeSH lifesciencedb.jp
Heart Diseases 心臓疾患 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Cardiomyopathies 心筋疾患 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Acute Disease 急性疾患 MeSH lifesciencedb.jp
Recurrence 再発 MeSH lifesciencedb.jp
Chronic Disease 慢性疾患 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Multienzyme Complexes 多酵素複合体 MeSH lifesciencedb.jp
3-Hydroxyacyl CoA Dehydrogenases 3-ヒドロキシアシルCoAデヒドロゲナーゼ MeSH lifesciencedb.jp
Fatty Acids 脂肪酸 MeSH lifesciencedb.jp
Enoyl-CoA Hydratase エノイルCoAヒドラターゼ MeSH lifesciencedb.jp
Starch デンプン MeSH lifesciencedb.jp
Carboxylic Acids カルボン酸 MeSH lifesciencedb.jp
Acetyl-CoA C-Acyltransferase 3-ケトチオラーゼ MeSH lifesciencedb.jp
Carnitine O-Palmitoyltransferase カルニチンO-パルミトイルトランスフェラーゼ MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Dietary Fats 食品中の脂肪 MeSH lifesciencedb.jp
Protein Subunits 蛋白質サブユニット MeSH lifesciencedb.jp
Carnitine カルニチン MeSH lifesciencedb.jp
Phosphates リン酸塩 MeSH lifesciencedb.jp
Macromolecular Substances 高分子物質 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
Oxidation-Reduction 酸化-還元 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Exercise 身体運動 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Mitochondria ミトコンドリア MeSH lifesciencedb.jp
Mitochondria, Muscle 筋ミトコンドリア MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
CHO Cells CHO細胞 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Saccharomyces cerevisiae 酵母-パン MeSH lifesciencedb.jp
Cricetinae ハムスター類 MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science