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01 148350 - KERATODERMA, PALMOPLANTAR, WITH DEAFNESS - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Deafness 聾 MeSH lifesciencedb.jp
Keratoderma, Palmoplantar 掌蹠角皮症 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Keratoderma, Palmoplantar, Diffuse 掌蹠角皮症-びまん性 MeSH lifesciencedb.jp
Hearing Loss, High-Frequency 難聴-高周波 MeSH lifesciencedb.jp
Dermatitis, Atopic 皮膚炎-アトピー性 MeSH lifesciencedb.jp
Keratitis 角膜炎 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Ichthyosis 魚鱗癬 MeSH lifesciencedb.jp
Ectodermal Dysplasia 外胚葉異形成症 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Connexins ギャップ結合蛋白質 MeSH lifesciencedb.jp
Crystallins クリスタリン MeSH lifesciencedb.jp
Glutamic Acid グルタミン酸 MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Protein Transport 蛋白質輸送 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Reproducibility of Results 結果再現性 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Cochlea 蝸牛 MeSH lifesciencedb.jp
Vestibule, Labyrinth 前庭 MeSH lifesciencedb.jp
Cornea 角膜 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Cytoplasm 細胞質 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
HeLa Cells Hela細胞 MeSH lifesciencedb.jp
Epithelium 上皮 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science