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01 608836 - CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Deficiency Diseases 欠乏性疾患 MeSH lifesciencedb.jp
Mitochondrial Myopathies ミトコンドリア筋症 MeSH lifesciencedb.jp
Fatty Liver 脂肪肝 MeSH lifesciencedb.jp
腎不全 MeSH lifesciencedb.jp
Hyperkalemia 高カリウム血症 MeSH lifesciencedb.jp
Arrhythmias, Cardiac 不整脈 MeSH lifesciencedb.jp
Hypoglycemia 低血糖症 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Cardiomyopathies 心筋疾患 MeSH lifesciencedb.jp
Calcinosis 石灰沈着症 MeSH lifesciencedb.jp
Metabolism, Inborn Errors 代謝異常-先天性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
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
Citrate (si)-Synthase クエン酸シンターゼ MeSH lifesciencedb.jp
Pyruvate Dehydrogenase Complex ピルビン酸デヒドロゲナーゼ複合体 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Carnitine カルニチン MeSH lifesciencedb.jp
Fatty Acids 脂肪酸 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
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Pregnancy Trimester, First 妊娠前期 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Neonatal Screening 新生児スクリーニング MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Oxidation-Reduction 酸化-還元 MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 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
Phenotype 表現型 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Chorionic Villi 絨毛膜絨毛 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
Cerebral Ventricles 脳室 MeSH lifesciencedb.jp
Fetus 胎児 MeSH lifesciencedb.jp
Myocardium 心筋 MeSH lifesciencedb.jp
Mitochondria ミトコンドリア MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


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