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01 103050 - ADENYLOSUCCINASE DEFICIENCY - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Maxillofacial Abnormalities 顎顔面奇形 MeSH lifesciencedb.jp
Epilepsy てんかん MeSH lifesciencedb.jp
Metabolism, Inborn Errors 代謝異常-先天性 MeSH lifesciencedb.jp
Brain Diseases, Metabolic, Inborn 脳疾患-代謝性-先天性 MeSH lifesciencedb.jp
Purine-Pyrimidine Metabolism, Inborn Errors プリンピリミジン代謝異常-先天性 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Blindness 失明 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Adenylosuccinate Lyase アデニロコハク酸リアーゼ MeSH lifesciencedb.jp
Aminoimidazole Carboxamide アミノイミダゾールカルボキサミド MeSH lifesciencedb.jp
Purines プリン MeSH lifesciencedb.jp
Phosphoribosylaminoimidazolecarboxamide Formyltransferase - MeSH lifesciencedb.jp
GA-Binding Protein Transcription Factor GABP転写因子 MeSH lifesciencedb.jp
Ribonucleotides リボヌクレオチド MeSH lifesciencedb.jp
Nucleotide Deaminases ヌクレオチドデアミナーゼ MeSH lifesciencedb.jp
Hydroxymethyl and Formyl Transferases ヒドロキシメチルトランスフェラーゼとホルミルトランスフェラーゼ MeSH lifesciencedb.jp
Purine Nucleotides プリンヌクレオチド MeSH lifesciencedb.jp
Ribonucleosides リボヌクレオシド MeSH lifesciencedb.jp
Lyases 分解酵素 MeSH lifesciencedb.jp
5' Untranslated Regions 5'非翻訳領域 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Adenosine アデノシン MeSH lifesciencedb.jp
Protein Isoforms アイソフォーム MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA 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
Promoter Regions, Genetic プロモーター領域 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
5' Untranslated Regions 5'非翻訳領域 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Temperature 温度 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Tissue Distribution 組織内分布 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Binding Sites 結合部位 MeSH lifesciencedb.jp
Kinetics 運動力学 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Erythrocytes 赤血球 MeSH lifesciencedb.jp
Lymphocytes リンパ球 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Escherichia coli 大腸菌 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science