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01 300352 - CREATINE DEFICIENCY SYNDROME, X-LINKED - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Mental Retardation, X-Linked 精神発達遅滞-X連鎖性 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Amino Acid Transport Disorders, Inborn アミノ酸輸送障害-先天性 MeSH lifesciencedb.jp
Sex Chromosome Disorders 性染色体疾患 MeSH lifesciencedb.jp
Brain Diseases, Metabolic, Inborn 脳疾患-代謝性-先天性 MeSH lifesciencedb.jp
Genetic Diseases, X-Linked 遺伝性疾患-X連鎖性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Gastrointestinal Diseases 胃腸疾患 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Metabolism, Inborn Errors 代謝異常-先天性 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Membrane Transport Proteins 膜輸送蛋白質 MeSH lifesciencedb.jp
Creatine クレアチン MeSH lifesciencedb.jp
Plasma Membrane Neurotransmitter Transport Proteins Plasma Membrane Neurotransmitter Transport Proteins MeSH lifesciencedb.jp
Amidinotransferases アミジノトランスフェラーゼ MeSH lifesciencedb.jp
Guanidinoacetate N-Methyltransferase グアニジノ酢酸メチルトランスフェラーゼ MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Creatinine クレアチニン MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Introns イントロン 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
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Prevalence 有病率 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Prospective Studies 前向き研究 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science