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01 120970 CORD2 CONE-ROD DYSTROPHY 2 網膜色素変性症 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Retinal Degeneration 網膜変性症 MeSH lifesciencedb.jp
Retinitis Pigmentosa 網膜色素変性症 MeSH lifesciencedb.jp
Color Vision Defects 色覚異常 MeSH lifesciencedb.jp
Vestibular Diseases 前庭疾患 MeSH lifesciencedb.jp
Nondisjunction, Genetic 遺伝子不分離 MeSH lifesciencedb.jp
Nystagmus, Pathologic 眼振 MeSH lifesciencedb.jp
Optic Atrophy, Hereditary, Leber 視神経萎縮-遺伝性-Leber MeSH lifesciencedb.jp
Neurofibromatosis 1 神経線維腫症1型 MeSH lifesciencedb.jp
Night Blindness 夜盲症 MeSH lifesciencedb.jp
Myopia 近視 MeSH lifesciencedb.jp
Optic Atrophies, Hereditary 視神経萎縮-遺伝性 MeSH lifesciencedb.jp
Vision Disorders 視覚障害 MeSH lifesciencedb.jp
Macular Degeneration 網膜黄斑変性 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Atrophy 萎縮 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Guanylate Cyclase グアニル酸シクラーゼ MeSH lifesciencedb.jp
Homeodomain Proteins ホメオドメイン蛋白質 MeSH lifesciencedb.jp
Trans-Activators トランスアクチベーター MeSH lifesciencedb.jp
Receptors, Peptide ペプチド受容体 MeSH lifesciencedb.jp
Histidine ヒスチジン MeSH lifesciencedb.jp
Rhodopsin 視紅 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Actins アクチン MeSH lifesciencedb.jp
Cysteine システイン MeSH lifesciencedb.jp
Microfilament Proteins ミクロフィラメント蛋白質 MeSH lifesciencedb.jp
Receptor Protein-Tyrosine Kinases 受容体型プロテイン-チロシンキナーゼ MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Proto-Oncogene Proteins 癌原遺伝子蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 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
Visual Acuity 視力 MeSH lifesciencedb.jp
Visual Fields 視野 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Dark Adaptation 暗順応 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Fixation, Ocular 固視 MeSH lifesciencedb.jp
MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Nondisjunction, Genetic 遺伝子不分離 MeSH lifesciencedb.jp
Color Perception 色覚 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes, Homeobox ホメオボックス遺伝子 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Transcriptional Activation - MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Organ Specificity 臓器特異性 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Binding Sites 結合部位 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Protein Binding 蛋白質結合 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Promoter Regions, Genetic プロモーター領域 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Prospective Studies 前向き研究 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Photoreceptor Cells 光受容体 MeSH lifesciencedb.jp
Fundus Oculi 眼底 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Photoreceptor Cells, Vertebrate 脊椎動物光受容体 MeSH lifesciencedb.jp
Pigment Epithelium of Eye 網膜色素上皮 MeSH lifesciencedb.jp
Hair Cells, Auditory - MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science