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01 253300 SMA1 SPINAL MUSCULAR ATROPHY, TYPE I ウェルドニッヒ・ホフマン病|脊髄性筋萎縮症 OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Muscular Atrophy, Spinal 筋萎縮症-脊髄性 MeSH lifesciencedb.jp
Spinal Muscular Atrophies of Childhood 筋萎縮症-脊髄性-小児 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Spinal Cord Diseases 脊髄疾患 MeSH lifesciencedb.jp
Motor Neuron Disease 運動ニューロン疾患 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Acute Disease 急性疾患 MeSH lifesciencedb.jp
Demyelinating Diseases 脱髄疾患 MeSH lifesciencedb.jp
Nerve Degeneration 神経変性 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp
Respiratory Distress Syndrome, Newborn 呼吸窮迫症候群-新生児 MeSH lifesciencedb.jp
Sudden Infant Death 乳幼児突然死症候群 MeSH lifesciencedb.jp
Paralysis 麻痺 MeSH lifesciencedb.jp
Chronic Disease 慢性疾患 MeSH lifesciencedb.jp
Dog Diseases イヌの疾病 MeSH lifesciencedb.jp
Infertility, Male 不妊症-男性 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Arthrogryposis 関節拘縮 MeSH lifesciencedb.jp
Amyotrophic Lateral Sclerosis 筋萎縮性側索硬化症 MeSH lifesciencedb.jp
Infant, Newborn, Diseases 新生児疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Cyclic AMP Response Element-Binding Protein cAMP応答DNA結合蛋白質 MeSH lifesciencedb.jp
RNA-Binding Proteins RNA結合タンパク質 MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Neuronal Apoptosis-Inhibitory Protein 遺伝子産物-NAIP MeSH lifesciencedb.jp
GABA Agents GABA Agents MeSH lifesciencedb.jp
G(M2) Activator Protein G(M2)活性化蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Valproic Acid バルプロ酸 MeSH lifesciencedb.jp
Okadaic Acid オカダ酸 MeSH lifesciencedb.jp
DNA Probes DNA遺伝子プローブ MeSH lifesciencedb.jp
Receptors, Glutamate グルタミン酸受容体 MeSH lifesciencedb.jp
Receptors, Mitogen マイトジェン受容体 MeSH lifesciencedb.jp
Phenylbutyrates フェニルブチル酸塩 MeSH lifesciencedb.jp
Ribonucleoproteins, Small Nuclear 核内低分子リボ核蛋白質 MeSH lifesciencedb.jp
Uridine ウリジン MeSH lifesciencedb.jp
Plant Lectins 植物レクチン MeSH lifesciencedb.jp
Hexosaminidase B - MeSH lifesciencedb.jp
Flavonoids バイオフラボノイド MeSH lifesciencedb.jp
Hydroxyurea ヒドロキシカルバミド MeSH lifesciencedb.jp
G(M2) Ganglioside G(M2)ガングリオシド MeSH lifesciencedb.jp
Butyrates 酪酸塩 MeSH lifesciencedb.jp
Nucleic Acid Heteroduplexes 核酸ヘテロ二本鎖 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Phosphoprotein Phosphatases プロテインホスファターゼ MeSH lifesciencedb.jp
Enzyme Inhibitors 酵素阻害剤 MeSH lifesciencedb.jp
Vascular Endothelial Growth Factors 血管内皮増殖因子類 MeSH lifesciencedb.jp
Endothelial Growth Factors 内皮増殖因子 MeSH lifesciencedb.jp
Tritium 三重水素 MeSH lifesciencedb.jp
Deoxyribonucleases, Type II Site-Specific 制限酵素II型 MeSH lifesciencedb.jp
Molecular Chaperones 分子シャペロン MeSH lifesciencedb.jp
Microtubule-Associated Proteins 微小管結合蛋白質 MeSH lifesciencedb.jp
Lectins レクチン MeSH lifesciencedb.jp
Superoxide Dismutase スーパーオキシドジスムターゼ MeSH lifesciencedb.jp
beta-N-Acetylhexosaminidases ベータ-N-アセチルヘキソサミニダーゼ MeSH lifesciencedb.jp
Lymphokines リンホカイン MeSH lifesciencedb.jp
Vascular Endothelial Growth Factor A 血管内皮増殖因子A MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
Oligonucleotide Probes オリゴヌクレオチドプローブ MeSH lifesciencedb.jp
Autoantigens 自己抗原 MeSH lifesciencedb.jp
DNA Restriction Enzymes 制限酵素 MeSH lifesciencedb.jp
RNA リボ核酸 MeSH lifesciencedb.jp
Recombinant Fusion Proteins 組換え融合蛋白質 MeSH lifesciencedb.jp
Cytoskeletal Proteins 細胞骨格蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Biological Markers 生物学的マーカー MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 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
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Gene Dosage 遺伝子量 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Gene Conversion 遺伝子変換 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Chromosomes, Fungal 真菌染色体 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Pseudogenes 偽遺伝子 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Centromere セントロメア MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Death Certificates 死亡診断書 MeSH lifesciencedb.jp
Chromosomes, Mammalian 哺乳類染色体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Bayes Theorem Bayesの定理 MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Multigene Family 多重遺伝子族 MeSH lifesciencedb.jp
Enhancer Elements, Genetic エンハンサー領域 MeSH lifesciencedb.jp
Bias (Epidemiology) バイアス(疫学) MeSH lifesciencedb.jp
Genomic Library ゲノムライブラリー MeSH lifesciencedb.jp
Genome, Human ヒトゲノム MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
MAP Kinase Signaling System MAP Kinaseシグナル伝達系 MeSH lifesciencedb.jp
Incidence 発生率 MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Inheritance Patterns 遺伝パターン MeSH lifesciencedb.jp
Cell Size 細胞サイズ MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Carrier State 保菌者状態 MeSH lifesciencedb.jp
Maternal-Fetal Exchange 母体胎児間物質交換 MeSH lifesciencedb.jp
Spermatogenesis 精子形成 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Prevalence 有病率 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Recombination, Genetic 遺伝子組換え MeSH lifesciencedb.jp
Gene Library 遺伝子ライブラリー MeSH lifesciencedb.jp
Molecular Biology 分子生物学 MeSH lifesciencedb.jp
Motor Activity 運動活性 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Cell Death 細胞死 MeSH lifesciencedb.jp
Psychomotor Performance 精神運動能力 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genetics, Population 集団遺伝学 MeSH lifesciencedb.jp
Sensitivity and Specificity 感度と特異度 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Statistics as Topic Statistics as Topic MeSH lifesciencedb.jp
Electrophysiology 電気生理学 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Mosaicism モザイク現象 MeSH lifesciencedb.jp
Chi-Square Distribution カイ二乗分布 MeSH lifesciencedb.jp
Dose-Response Relationship, Drug 薬物用量効果相互関係 MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Probability 確率 MeSH lifesciencedb.jp
Sex Distribution 性別分布 MeSH lifesciencedb.jp
Pilot Projects パイロットプロジェクト MeSH lifesciencedb.jp
Cell Survival 細胞生存 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Sex Factors 性因子(疫学) MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Nucleic Acid Hybridization 核酸ハイブリダイゼーション MeSH lifesciencedb.jp
Risk リスク 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
Germ-Line Mutation 生殖細胞系変異 MeSH lifesciencedb.jp
Protein Binding 蛋白質結合 MeSH lifesciencedb.jp
Risk Assessment リスク評価 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Clinical Trials as Topic Clinical Trials as Topic MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Apoptosis アポトーシス MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Predictive Value of Tests 検査予測値 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Cohort Studies コホート研究 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 5 ヒト第5染色体 MeSH lifesciencedb.jp
Motor Neurons 運動ニューロン MeSH lifesciencedb.jp
Chromosomes, Fungal 真菌染色体 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Nissl Bodies Nissl小体 MeSH lifesciencedb.jp
Spinal Cord 脊髄 MeSH lifesciencedb.jp
Tail MeSH lifesciencedb.jp
Hypoglossal Nerve 舌下神経 MeSH lifesciencedb.jp
Centromere セントロメア MeSH lifesciencedb.jp
Sperm Head 精子頭部 MeSH lifesciencedb.jp
Acrosome アクロソーム MeSH lifesciencedb.jp
Spinal Nerve Roots 脊髄神経根 MeSH lifesciencedb.jp
Chromosomes, Mammalian 哺乳類染色体 MeSH lifesciencedb.jp
Cell Line, Transformed 形質転換細胞系 MeSH lifesciencedb.jp
Medulla Oblongata 延髄 MeSH lifesciencedb.jp
Cytoskeleton 細胞骨格 MeSH lifesciencedb.jp
Nerve Fibers, Myelinated 有髄神経線維 MeSH lifesciencedb.jp
Telomere テロメア MeSH lifesciencedb.jp
Oocytes 卵母細胞 MeSH lifesciencedb.jp
Neuromuscular Junction 神経筋接合部 MeSH lifesciencedb.jp
Extremities 四肢 MeSH lifesciencedb.jp
Neuroglia 神経膠 MeSH lifesciencedb.jp
Embryo, Mammalian Embryo, Mammalian MeSH lifesciencedb.jp
Axons 軸索 MeSH lifesciencedb.jp
Testis 精巣 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 12 ヒト第12染色体 MeSH lifesciencedb.jp
Hair MeSH lifesciencedb.jp
Hippocampus 海馬 MeSH lifesciencedb.jp
Lymphocytes リンパ球 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 11 ヒト第11染色体 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Lung MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cell Line 細胞系 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Mice, Neurologic Mutants 神経性変異マウス MeSH lifesciencedb.jp
Arachis hypogaea ナンキンマメ MeSH lifesciencedb.jp
Muridae ネズミ科 MeSH lifesciencedb.jp
Drosophila melanogaster キイロショウジョウバエ MeSH lifesciencedb.jp
Animals, Genetically Modified 遺伝子改変動物 MeSH lifesciencedb.jp
Mice, Inbred C57BL C57BLマウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp
Rats, Wistar Wistarラット MeSH lifesciencedb.jp
Mice, Transgenic トランスジェニックマウス MeSH lifesciencedb.jp
Dogs イヌ MeSH lifesciencedb.jp
Mice, Inbred Strains 近交系マウス MeSH lifesciencedb.jp
Cattle ウシ MeSH lifesciencedb.jp
Mice, Mutant Strains 変異系マウス MeSH lifesciencedb.jp
Mice, Knockout ノックアウトマウス MeSH lifesciencedb.jp
Rats ラット MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



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