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01 203200 OCA2 ALBINISM, OCULOCUTANEOUS, TYPE II - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Albinism, Oculocutaneous 眼皮白子症 MeSH lifesciencedb.jp
Albinism 白皮症 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Albinism, Ocular 眼白子症 MeSH lifesciencedb.jp
Urologic Diseases 泌尿器疾患 MeSH lifesciencedb.jp
Melanosis 黒色症 MeSH lifesciencedb.jp
Platelet Storage Pool Deficiency 血小板貯留欠乏症 MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Hypopigmentation 色素沈着低下 MeSH lifesciencedb.jp
Respiratory Tract Diseases 気道疾患 MeSH lifesciencedb.jp
Nystagmus, Pathologic 眼振 MeSH lifesciencedb.jp
Hermanski-Pudlak Syndrome Hermanski-Pudlak症候群 MeSH lifesciencedb.jp
Endocrine System Diseases 内分泌系疾患 MeSH lifesciencedb.jp
Carcinoma, Basal Cell 基底細胞腫 MeSH lifesciencedb.jp
Hematologic Diseases 血液疾患 MeSH lifesciencedb.jp
Carcinoma, Squamous Cell 扁平上皮癌 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Gastrointestinal Diseases 胃腸疾患 MeSH lifesciencedb.jp
Cardiovascular Diseases 心臓血管疾患 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Neoplasms 腫瘍 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Skin Neoplasms 皮膚腫瘍 MeSH lifesciencedb.jp
Prader-Willi Syndrome Prader-Willi症候群 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Monophenol Monooxygenase チロシナーゼ MeSH lifesciencedb.jp
Membrane Transport Proteins 膜輸送蛋白質 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Catechol Oxidase カテコールオキシダーゼ MeSH lifesciencedb.jp
Oxidoreductases 酸化還元酵素 MeSH lifesciencedb.jp
Tyrosine チロシン MeSH lifesciencedb.jp
Adaptor Protein Complex beta Subunits アダプター蛋白質複合体ベータサブユニット MeSH lifesciencedb.jp
Adaptor Protein Complex 3 アダプター蛋白質複合体3 MeSH lifesciencedb.jp
Intramolecular Oxidoreductases 分子内酸化還元酵素 MeSH lifesciencedb.jp
Protein Sorting Signals 蛋白質ソーティングシグナル MeSH lifesciencedb.jp
Pigments, Biological Pigments, Biological MeSH lifesciencedb.jp
Globins グロビン MeSH lifesciencedb.jp
Membrane Glycoproteins 膜糖蛋白質 MeSH lifesciencedb.jp
Codon, Terminator 終止コドン MeSH lifesciencedb.jp
Antigens, Neoplasm 腫瘍抗原 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Copper MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Skin Pigmentation 皮膚色素沈着 MeSH lifesciencedb.jp
Pigmentation 色素沈着 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Eye Color 眼の色 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Long Interspersed Nucleotide Elements 広範囲散在反復配列 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Inbreeding 近交交配 MeSH lifesciencedb.jp
Protein Sorting Signals 蛋白質ソーティングシグナル MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Fertility 生殖能力 MeSH lifesciencedb.jp
Selection, Genetic 遺伝子淘汰 MeSH lifesciencedb.jp
Evoked Potentials, Visual 視覚誘発電位 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Codon, Terminator 終止コドン MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Protein Transport 蛋白質輸送 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Centromere セントロメア 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
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Ultraviolet Rays 紫外線 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Genetics, Population 集団遺伝学 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Statistics as Topic Statistics as Topic MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Enzyme Activation 酵素活性化 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Prevalence 有病率 MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Visual Acuity 視力 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 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
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Risk Factors 危険因子 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 15 ヒト第15染色体 MeSH lifesciencedb.jp
Chromatophores 色素細胞 MeSH lifesciencedb.jp
Secretory Vesicles 分泌小胞 MeSH lifesciencedb.jp
Optic Chiasm 視交叉 MeSH lifesciencedb.jp
Urogenital System 泌尿生殖器系 MeSH lifesciencedb.jp
Tooth MeSH lifesciencedb.jp
Melanocytes メラニン細胞 MeSH lifesciencedb.jp
Connective Tissue 結合組織 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Eye MeSH lifesciencedb.jp
Ear MeSH lifesciencedb.jp
Centromere セントロメア MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Sex Chromosomes 性染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Hair MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Retina 網膜 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Mice, Inbred C57BL C57BLマウス MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science