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01 239500 - HYPERPROLINEMIA, TYPE I 高プロリン血症１型 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
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Kidney Diseases 腎臓疾患 MeSH lifesciencedb.jp
Kidney Calculi 腎結石 MeSH lifesciencedb.jp
Hematuria 血尿 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Nephritis 腎炎 MeSH lifesciencedb.jp
DiGeorge Syndrome DiGeorge症候群 MeSH lifesciencedb.jp
Wilms Tumor 腎芽細胞腫 MeSH lifesciencedb.jp
Ichthyosis 魚鱗癬 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Polycystic Kidney Diseases 腎嚢胞-多発性 MeSH lifesciencedb.jp
Deafness 聾 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Proline プロリン MeSH lifesciencedb.jp
Proline Oxidase プロリンオキシダーゼ MeSH lifesciencedb.jp
Hydroxyproline ヒドロキシプロリン MeSH lifesciencedb.jp
Heparin Cofactor II ヘパリン補因子II MeSH lifesciencedb.jp
Glycine アミノ酢酸 MeSH lifesciencedb.jp
Amino Acid Oxidoreductases アミノ酸オキシドレダクターゼ MeSH lifesciencedb.jp
Taurine タウリン MeSH lifesciencedb.jp
Alanine アラニン MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Biological Markers 生物学的マーカー MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Genes, Insect 昆虫遺伝子 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Species Specificity 種特異性 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes 遺伝子 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
Phenotype 表現型 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Pregnancy 妊娠 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
Chromosomes, Human, Pair 22 ヒト第22染色体 MeSH lifesciencedb.jp
Cerebrospinal Fluid 髄液 MeSH lifesciencedb.jp
Blood 血液 MeSH lifesciencedb.jp
Urine 尿 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Drosophila melanogaster キイロショウジョウバエ MeSH lifesciencedb.jp
Mice, Inbred CBA CBAマウス MeSH lifesciencedb.jp
Mice, Inbred C57BL C57BLマウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp


Database Center for Life Science