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01 219100 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE I - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Cutis Laxa 皮膚弛緩症 MeSH lifesciencedb.jp
Pulmonary Emphysema 肺気腫 MeSH lifesciencedb.jp
Emphysema 気腫 MeSH lifesciencedb.jp
Urologic Diseases 泌尿器疾患 MeSH lifesciencedb.jp
Ehlers-Danlos Syndrome Ehlers-Danlos症候群 MeSH lifesciencedb.jp
Dermatomycoses 皮膚疾患-真菌性 MeSH lifesciencedb.jp
Pulmonary Atelectasis 無気肺 MeSH lifesciencedb.jp
Hyperventilation 呼吸亢進 MeSH lifesciencedb.jp
Metal Metabolism, Inborn Errors 金属代謝異常-先天性 MeSH lifesciencedb.jp
Diverticulum 憩室 MeSH lifesciencedb.jp
Joint Instability 関節不安定症 MeSH lifesciencedb.jp
Hernia, Diaphragmatic 横隔膜ヘルニア MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Hernia, Umbilical 臍帯ヘルニア MeSH lifesciencedb.jp
Lipodystrophy 脂肪異栄養症 MeSH lifesciencedb.jp
Progeria 早老症 MeSH lifesciencedb.jp
Vascular Diseases 血管疾患 MeSH lifesciencedb.jp
Collagen Diseases 膠原病 MeSH lifesciencedb.jp
Pneumonia 肺炎 MeSH lifesciencedb.jp
Carbohydrate Metabolism, Inborn Errors 炭水化物代謝異常-先天性 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Macular Degeneration 網膜黄斑変性 MeSH lifesciencedb.jp
Connective Tissue Diseases 結合組織疾患 MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Lung Diseases 肺疾患 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
Copper MeSH lifesciencedb.jp
Protein-Lysine 6-Oxidase プロテイン-リジン6-オキシダーゼ MeSH lifesciencedb.jp
Neprilysin CD10抗原 MeSH lifesciencedb.jp
Apolipoproteins C アポリポ蛋白質C MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
Polysaccharides グリカン MeSH lifesciencedb.jp
Protease Inhibitors エンドペプチダーゼ阻害剤 MeSH lifesciencedb.jp
Transferrin シデロフィリン MeSH lifesciencedb.jp
Elastin エラスチン MeSH lifesciencedb.jp
Endopeptidases エンドペプチダーゼ 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
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Surgery, Plastic 形成外科学 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Bone Development 骨発育 MeSH lifesciencedb.jp
Protein Folding 蛋白質折畳み MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Glycosylation - MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Elastic Tissue 弾性線維 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Pulmonary Artery 肺動脈 MeSH lifesciencedb.jp
Ear MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Lung MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Cercopithecus aethiops ミドリザル MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



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