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01 204000 LCA1 LEBER CONGENITAL AMAUROSIS, TYPE I - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Blindness 失明 MeSH lifesciencedb.jp
Optic Atrophies, Hereditary 視神経萎縮-遺伝性 MeSH lifesciencedb.jp
Optic Atrophy, Hereditary, Leber 視神経萎縮-遺伝性-Leber MeSH lifesciencedb.jp
Retinal Degeneration 網膜変性症 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Cardiomyopathies 心筋疾患 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Liver Diseases 肝臓疾患 MeSH lifesciencedb.jp
Hyperopia 遠視 MeSH lifesciencedb.jp
Anophthalmos 無眼球症 MeSH lifesciencedb.jp
Eye Diseases, Hereditary 眼疾患-遺伝性 MeSH lifesciencedb.jp
Kidney Diseases, Cystic 腎嚢胞 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Hepatomegaly 肝腫脹 MeSH lifesciencedb.jp
Optic Atrophy 視神経萎縮 MeSH lifesciencedb.jp
Heart Failure Heart Failure MeSH lifesciencedb.jp
Acidosis アシドーシス MeSH lifesciencedb.jp
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Ehlers-Danlos Syndrome Ehlers-Danlos症候群 MeSH lifesciencedb.jp
Retinal Diseases 網膜疾患 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Adrenoleukodystrophy 副腎白質ジストロフィー MeSH lifesciencedb.jp
Brain Diseases 脳疾患 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Kidney Diseases 腎臓疾患 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Retinitis Pigmentosa 網膜色素変性症 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
Guanylate Cyclase グアニル酸シクラーゼ MeSH lifesciencedb.jp
Cyclic GMP 環状GMP MeSH lifesciencedb.jp
Eye Proteins 眼球蛋白質 MeSH lifesciencedb.jp
Homeodomain Proteins ホメオドメイン蛋白質 MeSH lifesciencedb.jp
Otx Transcription Factors Otx転写因子 MeSH lifesciencedb.jp
Trans-Activators トランスアクチベーター MeSH lifesciencedb.jp
3',5'-Cyclic-GMP Phosphodiesterases 3',5'-サイクリックGMPホスホジエステラーゼ MeSH lifesciencedb.jp
Phytanic Acid フィタン酸 MeSH lifesciencedb.jp
Plasmalogens プラスマローゲン MeSH lifesciencedb.jp
Threonine スレオニン MeSH lifesciencedb.jp
Alcohol Oxidoreductases アルコールオキシドレダクターゼ MeSH lifesciencedb.jp
Guanine グアニン 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
Human Growth Hormone ヒト成長ホルモン MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Amino Acids アミノ酸 MeSH lifesciencedb.jp
Receptors, Cell Surface 細胞表面受容体 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー 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
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Visual Acuity 視力 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Saccades 衝動性眼球運動 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Genes, Homeobox ホメオボックス遺伝子 MeSH lifesciencedb.jp
Amino Acid Motifs アミノ酸モチーフ MeSH lifesciencedb.jp
Likelihood Functions 尤度関数 MeSH lifesciencedb.jp
Evoked Potentials, Visual 視覚誘発電位 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Open Reading Frames オープンリーディングフレーム MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Penetrance 浸透度(遺伝学) MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Gene Expression Regulation, Developmental 発生遺伝子発現調節 MeSH lifesciencedb.jp
Visual Fields 視野 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Oxidation-Reduction 酸化-還元 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Risk Assessment リスク評価 MeSH lifesciencedb.jp
Comorbidity 共存疾患 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Lod Score ロッドスコア 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
Genotype 遺伝子型 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Photoreceptor Cells, Vertebrate 脊椎動物光受容体 MeSH lifesciencedb.jp
Fundus Oculi 眼底 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Pineal Gland 松果体 MeSH lifesciencedb.jp
Optic Nerve 視神経 MeSH lifesciencedb.jp
Photoreceptor Cells 光受容体 MeSH lifesciencedb.jp
Microbodies 微小体 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp



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