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01 303600 CLS COFFIN-LOWRY SYNDROME Coffin-Lowry症候群 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Coffin-Lowry Syndrome Coffin-Lowry症候群 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Cataplexy 脱力発作 MeSH lifesciencedb.jp
Mental Retardation, X-Linked 精神発達遅滞-X連鎖性 MeSH lifesciencedb.jp
Hand Deformities, Congenital 手の形態異常-先天性 MeSH lifesciencedb.jp
Facies 顔貌 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Kyphosis 脊柱後彎症 MeSH lifesciencedb.jp
Darier Disease 角化症-毛包性 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Genetic Diseases, X-Linked 遺伝性疾患-X連鎖性 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Hyperostosis Frontalis Interna 過骨症-前頭骨内板 MeSH lifesciencedb.jp
Tooth Loss 歯牙脱落 MeSH lifesciencedb.jp
Funnel Chest 漏斗胸 MeSH lifesciencedb.jp
Hydrocephalus 水頭症 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Tachycardia, Ventricular 頻拍-心室性 MeSH lifesciencedb.jp
Cardiovascular Abnormalities 心臓血管奇形 MeSH lifesciencedb.jp
alpha-Thalassemia サラセミア-アルファ MeSH lifesciencedb.jp
Puerperal Disorders 産褥障害 MeSH lifesciencedb.jp
Hearing Loss, Sensorineural 難聴-内耳性 MeSH lifesciencedb.jp
Retinal Degeneration 網膜変性症 MeSH lifesciencedb.jp
Ventricular Dysfunction, Left 左心室機能障害 MeSH lifesciencedb.jp
Orofaciodigital Syndromes 口・顔・指症候群 MeSH lifesciencedb.jp
Syncope 失神 MeSH lifesciencedb.jp
Epilepsy てんかん MeSH lifesciencedb.jp
Mitral Valve Insufficiency 僧帽弁閉鎖不全症 MeSH lifesciencedb.jp
Rubinstein-Taybi Syndrome Rubinstein-Taybi症候群 MeSH lifesciencedb.jp
Stress, Physiological ストレス MeSH lifesciencedb.jp
Heart Septal Defects, Atrial 心房中隔欠損 MeSH lifesciencedb.jp
Hypertelorism 隔離症 MeSH lifesciencedb.jp
Hypophosphatemia, Familial 低リン血症-家族性 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Memory Disorders 記憶障害 MeSH lifesciencedb.jp
Cardiomyopathy, Dilated 心筋症-拡張型 MeSH lifesciencedb.jp
Movement Disorders 運動障害 MeSH lifesciencedb.jp
Cysts 嚢胞 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Cardiomyopathies 心筋疾患 MeSH lifesciencedb.jp
Retinal Diseases 網膜疾患 MeSH lifesciencedb.jp
Rett Syndrome Rett症候群 MeSH lifesciencedb.jp
Calcinosis 石灰沈着症 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Deafness MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 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
Ribosomal Protein S6 Kinases リボソーム蛋白質S6キナーゼ MeSH lifesciencedb.jp
Ribosomal Protein S6 Kinases, 90-kDa リボソーム蛋白質S6キナーゼ-90kDa MeSH lifesciencedb.jp
Epidermal Growth Factor ウロガストロン MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinase 1 マイトジェン活性化プロテインキナーゼ1 MeSH lifesciencedb.jp
ets-Domain Protein Elk-1 elk-1遺伝子産物 MeSH lifesciencedb.jp
Cyclic AMP Response Element-Binding Protein cAMP応答DNA結合蛋白質 MeSH lifesciencedb.jp
Activating Transcription Factor 4 ATF4転写因子 MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinases マイトジェン活性化プロテインキナーゼ MeSH lifesciencedb.jp
Small-Conductance Calcium-Activated Potassium Channels Small Conductance Ca2+活性化K+チャネル MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Histones ヒストン MeSH lifesciencedb.jp
Propofol プロポフォール MeSH lifesciencedb.jp
Ribosomal Protein S6 リボソーム蛋白質S6 MeSH lifesciencedb.jp
Anesthetics, Intravenous 静脈麻酔剤 MeSH lifesciencedb.jp
Calcium Pyrophosphate 二リン酸カルシウム MeSH lifesciencedb.jp
Protein Kinases プロテインキナーゼ MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Mitogen-Activated Protein Kinase 3 MAPキナーゼ3 MeSH lifesciencedb.jp
Calcium-Calmodulin-Dependent Protein Kinases カルシウム-カルモジュリン依存性プロテインキナーゼ MeSH lifesciencedb.jp
Isoenzymes アイソエンザイム MeSH lifesciencedb.jp
p38 Mitogen-Activated Protein Kinases MAPキナーゼp38 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Osteocalcin オステオカルシン MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Collagen Type I コラーゲンI型 MeSH lifesciencedb.jp
Serine セリン MeSH lifesciencedb.jp
Tetradecanoylphorbol Acetate 酢酸テトラデカノイルホルボール MeSH lifesciencedb.jp
Ribosomal Proteins リボソーム蛋白質 MeSH lifesciencedb.jp
Serotonin Uptake Inhibitors セロトニン取込み阻害剤 MeSH lifesciencedb.jp
Oligodeoxyribonucleotides オリゴデオキシリボヌクレオチド MeSH lifesciencedb.jp
Glycosaminoglycans グリコサミノグリカン MeSH lifesciencedb.jp
Enzyme Inhibitors 酵素阻害剤 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Trans-Activators トランスアクチベーター MeSH lifesciencedb.jp
Protein-Serine-Threonine Kinases セリン-トレオニン-プロテインキナーゼ MeSH lifesciencedb.jp
Proto-Oncogene Proteins 癌原遺伝子蛋白質 MeSH lifesciencedb.jp
Recombinant Proteins 組換え蛋白質 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
Antibodies, Monoclonal モノクローナル抗体 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
MAP Kinase Signaling System MAP Kinaseシグナル伝達系 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Phosphorylation リン酸化 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Sex Chromosome Aberrations 性染色体異常 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Chromatin Assembly and Disassembly クロマチンの凝集と分散 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Noise 騒音 MeSH lifesciencedb.jp
Protein Processing, Post-Translational 翻訳後蛋白質プロセシング MeSH lifesciencedb.jp
Gene Expression Regulation, Enzymologic 酵素遺伝子発現調節 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Genes, fos fos遺伝子 MeSH lifesciencedb.jp
Molecular Conformation 分子高次構造 MeSH lifesciencedb.jp
Startle Reaction 驚愕反射 MeSH lifesciencedb.jp
X Chromosome Inactivation - MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Signal Transduction シグナルトランスダクション MeSH lifesciencedb.jp
Morphogenesis 形態形成 MeSH lifesciencedb.jp
DNA Fragmentation DNA断片化 MeSH lifesciencedb.jp
Genes, Regulator 調節遺伝子 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Multicenter Studies as Topic - MeSH lifesciencedb.jp
Gene Silencing 遺伝子発現停止 MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Mitosis 有糸分裂 MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Substrate Specificity 基質特異性 MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Transcriptional Activation - MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Open Reading Frames オープンリーディングフレーム MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Neonatal Screening 新生児スクリーニング MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Dosage Compensation, Genetic 遺伝子量補正 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Ultraviolet Rays 紫外線 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Binding Sites 結合部位 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Frameshift Mutation フレームシフト変異 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Cell Differentiation 細胞分化 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Analysis of Variance 分散分析 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Promoter Regions, Genetic プロモーター領域 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 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
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
X Chromosome X染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Sternum 胸骨 MeSH lifesciencedb.jp
Chromosomes, Human, X ヒトX染色体 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
3T3 Cells 3T3細胞 MeSH lifesciencedb.jp
Skeleton 骨格 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Ligaments 靱帯 MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Endocardium 心内膜 MeSH lifesciencedb.jp
Hippocampus 海馬 MeSH lifesciencedb.jp
Forearm 前腕 MeSH lifesciencedb.jp
Thoracic Vertebrae 胸椎 MeSH lifesciencedb.jp
Osteoblasts 骨芽細胞 MeSH lifesciencedb.jp
Thorax 胸郭 MeSH lifesciencedb.jp
Neck 頸部 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Chromatin クロマチン MeSH lifesciencedb.jp
Cell Nucleus 細胞核 MeSH lifesciencedb.jp
Extracellular Matrix 細胞外基質 MeSH lifesciencedb.jp
Adipose Tissue 脂肪組織 MeSH lifesciencedb.jp
Lumbar Vertebrae 腰椎 MeSH lifesciencedb.jp
Stem Cells 幹細胞 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Toes 足指 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Cell Line, Transformed 形質転換細胞系 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
HeLa Cells Hela細胞 MeSH lifesciencedb.jp
Hand MeSH lifesciencedb.jp
Hybrid Cells ハイブリッド細胞 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Mice, Knockout ノックアウトマウス MeSH lifesciencedb.jp
Mice, Mutant Strains 変異系マウス MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Mice, Transgenic トランスジェニックマウス MeSH lifesciencedb.jp
Mice, Inbred C57BL C57BLマウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



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