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01 601553 HJMD HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Hypotrichosis 貧毛症 MeSH lifesciencedb.jp
Corneal Dystrophies, Hereditary 角膜変性症 MeSH lifesciencedb.jp
Macular Degeneration 網膜黄斑変性 MeSH lifesciencedb.jp
Alopecia 脱毛症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Cadherins カドヘリン 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
Dark Adaptation 暗順応 MeSH lifesciencedb.jp
Evoked Potentials, Visual 視覚誘発電位 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Visual Acuity 視力 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Case-Control Studies 症例対照研究 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 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
Pigment Epithelium of Eye 網膜色素上皮 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science