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01 300455 - RETINITIS PIGMENTOSA, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Retinitis Pigmentosa 網膜色素変性症 MeSH lifesciencedb.jp
Genetic Diseases, X-Linked 遺伝性疾患-X連鎖性 MeSH lifesciencedb.jp
Ciliary Motility Disorders 線毛運動障害 MeSH lifesciencedb.jp
Respiratory Tract Infections 気道感染 MeSH lifesciencedb.jp
Thoracic Diseases 胸部疾患 MeSH lifesciencedb.jp
Sinusitis 副鼻腔炎 MeSH lifesciencedb.jp
Hearing Disorders 聴力障害 MeSH lifesciencedb.jp
Kartagener Syndrome Kartagener症候群 MeSH lifesciencedb.jp
Deafness 聾 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Recurrence 再発 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Eye Proteins 眼球蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Ornithine Carbamoyltransferase オルニチンカルバモイルトランスフェラーゼ MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Risk Factors 危険因子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Respiratory Mucosa 気道粘膜 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Cilia 線毛 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science