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01 180849 RSTS RUBINSTEIN-TAYBI SYNDROME ルビンスタイン・タイビー症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Rubinstein-Taybi Syndrome Rubinstein-Taybi症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Mouth Abnormalities 口腔奇形 MeSH lifesciencedb.jp
Puberty, Precocious 思春期早発症 MeSH lifesciencedb.jp
Deglutition Disorders 嚥下障害 MeSH lifesciencedb.jp
Hypoplastic Left Heart Syndrome 左心低形成症候群 MeSH lifesciencedb.jp
Neoplasms, Nerve Tissue 神経組織腫瘍 MeSH lifesciencedb.jp
Coloboma 眼組織欠損症 MeSH lifesciencedb.jp
Epiphyses, Slipped 骨端すべり症 MeSH lifesciencedb.jp
Lacrimal Duct Obstruction 涙道閉塞症 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Tooth Abnormalities 歯の奇形 MeSH lifesciencedb.jp
Tooth, Supernumerary 過剰歯 MeSH lifesciencedb.jp
Nervous System Neoplasms 神経系腫瘍 MeSH lifesciencedb.jp
Enteritis 小腸炎 MeSH lifesciencedb.jp
Coffin-Lowry Syndrome Coffin-Lowry症候群 MeSH lifesciencedb.jp
Neoplasms, Germ Cell and Embryonal 胚細胞腫瘍と胎児性腫瘍 MeSH lifesciencedb.jp
Refractive Errors 屈折異常 MeSH lifesciencedb.jp
Respiratory Sounds 呼吸音 MeSH lifesciencedb.jp
Sphingolipidoses スフィンゴリピドーシス MeSH lifesciencedb.jp
Diverticulum 憩室 MeSH lifesciencedb.jp
alpha-Thalassemia サラセミア-アルファ MeSH lifesciencedb.jp
Aortic Diseases 大動脈疾患 MeSH lifesciencedb.jp
Hand Deformities 手の形態異常 MeSH lifesciencedb.jp
Endocardial Fibroelastosis 心内膜線維弾性症 MeSH lifesciencedb.jp
Mental Retardation, X-Linked 精神発達遅滞-X連鎖性 MeSH lifesciencedb.jp
Lysosomal Storage Diseases リソソーム蓄積症 MeSH lifesciencedb.jp
Strabismus 斜視 MeSH lifesciencedb.jp
Mitral Valve Insufficiency 僧帽弁閉鎖不全症 MeSH lifesciencedb.jp
Leukemia, Myeloid, Acute 白血病-急性骨髄性 MeSH lifesciencedb.jp
Head and Neck Neoplasms 頭頸部腫瘍 MeSH lifesciencedb.jp
Dislocations 脱臼 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Optic Atrophy 視神経萎縮 MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Neuroblastoma 神経芽細胞腫 MeSH lifesciencedb.jp
Glaucoma 緑内障 MeSH lifesciencedb.jp
Adrenal Gland Neoplasms 副腎腫瘍 MeSH lifesciencedb.jp
Pheochromocytoma 褐色細胞腫 MeSH lifesciencedb.jp
Arrhythmias, Cardiac 不整脈 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Hypertension, Pulmonary 肺高血圧症 MeSH lifesciencedb.jp
Hirschsprung Disease Hirschsprung病 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Foot Deformities, Congenital 足の形態異常-先天性 MeSH lifesciencedb.jp
Rett Syndrome Rett症候群 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Nerve Degeneration 神経変性 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Neoplasms 腫瘍 MeSH lifesciencedb.jp
Brain Diseases 脳疾患 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
CREB-Binding Protein - MeSH lifesciencedb.jp
Trans-Activators トランスアクチベーター MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
E1A-Associated p300 Protein E1A結合蛋白質p300 MeSH lifesciencedb.jp
Acetyltransferases アセチルトランスフェラーゼ MeSH lifesciencedb.jp
p300-CBP Transcription Factors p300-CBP Transcription Factors MeSH lifesciencedb.jp
Histone Acetyltransferases - MeSH lifesciencedb.jp
Succinylcholine スキサメトニウム MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Thyroxine サイロキシン MeSH lifesciencedb.jp
Saccharomyces cerevisiae Proteins サッカロミセスセレビシエ蛋白質 MeSH lifesciencedb.jp
Glycogen グリコーゲン MeSH lifesciencedb.jp
Deoxyribonuclease I ストレプトドルナーゼ MeSH lifesciencedb.jp
Thyrotropin 甲状腺刺激ホルモン MeSH lifesciencedb.jp
Histones ヒストン MeSH lifesciencedb.jp
Follicle Stimulating Hormone 卵胞刺激ホルモン MeSH lifesciencedb.jp
Luteinizing Hormone 黄体形成ホルモン MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Transcription Factors 転写因子 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
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Twins 双生児 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Chromatin Assembly and Disassembly クロマチンの凝集と分散 MeSH lifesciencedb.jp
Respiratory Sounds 呼吸音 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Molecular Conformation 分子高次構造 MeSH lifesciencedb.jp
Reflex, Stretch 伸張反射 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Nucleic Acid Denaturation 核酸変性 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Metaphase 細胞分裂中期 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Cytogenetics 細胞遺伝学 MeSH lifesciencedb.jp
Child Development 小児の発達 MeSH lifesciencedb.jp
Gene Silencing 遺伝子発現停止 MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Chromosome Inversion 染色体逆位 MeSH lifesciencedb.jp
Gait 歩行 MeSH lifesciencedb.jp
Chromosomes, Human, 13-15 ヒト第13-15染色体 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Health Surveys 健康調査 MeSH lifesciencedb.jp
Pathology 病理学 MeSH lifesciencedb.jp
Motor Activity 運動活性 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Protein Structure, Secondary 蛋白質二次構造 MeSH lifesciencedb.jp
Gene Dosage 遺伝子量 MeSH lifesciencedb.jp
Plasmids プラスミド MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Blood Pressure 血圧 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Codon コドン MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Genetic Vectors ベクター(遺伝子) MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Survival Rate 生存率 MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Predictive Value of Tests 検査予測値 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Incidence 発生率 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Questionnaires アンケート MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Thumb 母指 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Tooth, Deciduous 乳歯 MeSH lifesciencedb.jp
Incisor 切歯 MeSH lifesciencedb.jp
Breast 乳房 MeSH lifesciencedb.jp
Brachiocephalic Trunk 腕頭動脈 MeSH lifesciencedb.jp
Nose MeSH lifesciencedb.jp
Subclavian Artery 鎖骨下動脈 MeSH lifesciencedb.jp
Hallux 母趾 MeSH lifesciencedb.jp
Eyebrows MeSH lifesciencedb.jp
Cheek MeSH lifesciencedb.jp
Patella 膝蓋骨 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Sarcoplasmic Reticulum 筋小胞体 MeSH lifesciencedb.jp
Eyelashes 睫毛 MeSH lifesciencedb.jp
Germ Cells 生殖細胞 MeSH lifesciencedb.jp
Femur Head 大腿骨頭 MeSH lifesciencedb.jp
Maxilla 上顎骨 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Aorta, Thoracic 下行大動脈 MeSH lifesciencedb.jp
Esophagus 食道 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 7 ヒト第7染色体 MeSH lifesciencedb.jp
Palate 口蓋 MeSH lifesciencedb.jp
Myofibrils 筋原線維 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Mouth Mucosa 口腔粘膜 MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Chromosomes, Human, 13-15 ヒト第13-15染色体 MeSH lifesciencedb.jp
Ear MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Chromosomes, Human ヒト染色体 MeSH lifesciencedb.jp
Foot MeSH lifesciencedb.jp
Corpus Callosum 脳梁 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Thyroid Gland 甲状腺 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Cell Line, Transformed 形質転換細胞系 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 8 ヒト第8染色体 MeSH lifesciencedb.jp
Knee Joint 膝関節 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 6 ヒト第6染色体 MeSH lifesciencedb.jp
Hand MeSH lifesciencedb.jp
Bone Marrow 骨髄 MeSH lifesciencedb.jp
Spleen 脾臓 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Mice, Mutant Strains 変異系マウス MeSH lifesciencedb.jp



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