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01 124500 - DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Keratoderma, Palmoplantar 掌蹠角皮症 MeSH lifesciencedb.jp
Ichthyosis 魚鱗癬 MeSH lifesciencedb.jp
Deafness 聾 MeSH lifesciencedb.jp
Keratitis 角膜炎 MeSH lifesciencedb.jp
Keratosis 角化症 MeSH lifesciencedb.jp
Keratoderma, Palmoplantar, Diffuse 掌蹠角皮症-びまん性 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Foot Dermatoses 皮膚疾患-足部 MeSH lifesciencedb.jp
Hand Dermatoses 皮膚疾患-手部 MeSH lifesciencedb.jp
Alopecia 脱毛症 MeSH lifesciencedb.jp
Ectodermal Dysplasia 外胚葉異形成症 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 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
Etretinate エトレチネート MeSH lifesciencedb.jp
Isotretinoin イソトレチノイン MeSH lifesciencedb.jp
Tretinoin トレチノイン MeSH lifesciencedb.jp
DNA Transposable Elements 挿入配列因子 MeSH lifesciencedb.jp
Glucuronidase グルクロニダーゼ MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー 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
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
DNA Transposable Elements 挿入配列因子 MeSH lifesciencedb.jp
Protein Transport 蛋白質輸送 MeSH lifesciencedb.jp
Molecular Biology 分子生物学 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
Protein Biosynthesis 蛋白質生合成 MeSH lifesciencedb.jp
Tissue Distribution 組織内分布 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Skin 皮膚 MeSH lifesciencedb.jp
Scalp 頭皮 MeSH lifesciencedb.jp
Keratinocytes 角化細胞 MeSH lifesciencedb.jp
Epidermis 表皮 MeSH lifesciencedb.jp
Cornea 角膜 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 13 ヒト第13染色体 MeSH lifesciencedb.jp
HeLa Cells Hela細胞 MeSH lifesciencedb.jp
Cell Membrane 細胞膜 MeSH lifesciencedb.jp
Epithelium 上皮 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


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