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01 131960 EBS-MP EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Epidermolysis Bullosa Simplex 表皮水疱症-単純性 MeSH lifesciencedb.jp
Pigmentation Disorders 色素異常症 MeSH lifesciencedb.jp
Keratoderma, Palmoplantar 掌蹠角皮症 MeSH lifesciencedb.jp
Epidermolysis Bullosa 表皮水疱症 MeSH lifesciencedb.jp
Blister 水疱 MeSH lifesciencedb.jp
Hyperpigmentation 色素沈着過度 MeSH lifesciencedb.jp
Hypohidrosis 発汗減少 MeSH lifesciencedb.jp
Syndrome 症候群 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
Keratins ケラチン MeSH lifesciencedb.jp
Keratin-5 ケラチン-5 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
Skin Pigmentation 皮膚色素沈着 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Amino Acid Motifs アミノ酸モチーフ MeSH lifesciencedb.jp
Protein Structure, Secondary 蛋白質二次構造 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Skin 皮膚 MeSH lifesciencedb.jp
Epidermis 表皮 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science