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01 253800 FCMD FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp
Muscular Dystrophy, Duchenne 筋ジストロフィー-Duchenne型 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Dandy-Walker Syndrome Dandy-Walker症候群 MeSH lifesciencedb.jp
Eye Diseases, Hereditary 眼疾患-遺伝性 MeSH lifesciencedb.jp
Cerebellar Diseases 小脳疾患 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Heart Failure Heart Failure MeSH lifesciencedb.jp
Brain Diseases 脳疾患 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Hydrocephalus 水頭症 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Cerebral Palsy 脳性麻痺 MeSH lifesciencedb.jp
Seizures, Febrile 熱性けいれん MeSH lifesciencedb.jp
Spinal Muscular Atrophies of Childhood 筋萎縮症-脊髄性-小児 MeSH lifesciencedb.jp
Gliosis 神経膠症 MeSH lifesciencedb.jp
Fibrosis 線維症 MeSH lifesciencedb.jp
Retinal Detachment 網膜剥離 MeSH lifesciencedb.jp
Lipodystrophy 脂肪異栄養症 MeSH lifesciencedb.jp
Blood Coagulation Disorders 血液凝固異常 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Respiratory Insufficiency 呼吸不全 MeSH lifesciencedb.jp
Cysts 嚢胞 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Blindness 失明 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Eye Diseases 眼疾患 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 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
Dystroglycans ジストログリカン MeSH lifesciencedb.jp
Laminin メロシン MeSH lifesciencedb.jp
Cytoskeletal Proteins 細胞骨格蛋白質 MeSH lifesciencedb.jp
Membrane Glycoproteins 膜糖蛋白質 MeSH lifesciencedb.jp
Dystrophin ジストロフィン MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
N-Acetylglucosaminyltransferases N-アセチルグルコサミニルトランスフェラーゼ MeSH lifesciencedb.jp
Sarcoglycans サルコグリカン MeSH lifesciencedb.jp
Creatine Kinase, MM Form - MeSH lifesciencedb.jp
Silver 銀 MeSH lifesciencedb.jp
Creatine Kinase クレアチンキナーゼ MeSH lifesciencedb.jp
Utrophin ユートロフィン MeSH lifesciencedb.jp
Retroelements レトロエレメント MeSH lifesciencedb.jp
Fibrin Fibrinogen Degradation Products アンチトロンビンVI MeSH lifesciencedb.jp
Collagen Type VI コラーゲンVI型 MeSH lifesciencedb.jp
Extracellular Matrix Proteins 細胞外マトリックス蛋白質 MeSH lifesciencedb.jp
Mannosyltransferases マンノシルトランスフェラーゼ MeSH lifesciencedb.jp
Spectrin スペクトリン MeSH lifesciencedb.jp
Fibrin フィブリン MeSH lifesciencedb.jp
Myosins ミオシン MeSH lifesciencedb.jp
Glial Fibrillary Acidic Protein グリア線維酸性蛋白質 MeSH lifesciencedb.jp
Fibrinogen 血液凝固第I因子 MeSH lifesciencedb.jp
Collagen 膠原 MeSH lifesciencedb.jp
Ligands リガンド MeSH lifesciencedb.jp
Protein Isoforms アイソフォーム MeSH lifesciencedb.jp
Adenosine Triphosphatases - MeSH lifesciencedb.jp
Receptor Protein-Tyrosine Kinases 受容体型プロテイン-チロシンキナーゼ MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Isoenzymes アイソエンザイム MeSH lifesciencedb.jp
Receptors, Cholinergic アセチルコリン受容体 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
DNA デオキシリボ核酸 MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Glycosylation - MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Linkage Disequilibrium 連鎖不平衡 MeSH lifesciencedb.jp
Cosmids コスミド MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Retroelements レトロエレメント MeSH lifesciencedb.jp
Long-Term Potentiation 長期増強 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Cell Movement 細胞運動 MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Down-Regulation ダウンレギュレーション MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Immunochemistry 免疫化学 MeSH lifesciencedb.jp
Fibrinolysis 線維素溶解 MeSH lifesciencedb.jp
Up-Regulation アップレギュレーション MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Sequence Tagged Sites 配列標識部位 MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Protein Binding 蛋白質結合 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Mutagenesis, Insertional 挿入型変異誘発 MeSH lifesciencedb.jp
Molecular Biology 分子生物学 MeSH lifesciencedb.jp
Protein Processing, Post-Translational 翻訳後蛋白質プロセシング MeSH lifesciencedb.jp
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Conserved Sequence 保存配列 MeSH lifesciencedb.jp
Polymorphism, Single Nucleotide 一塩基多型 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Organ Specificity 臓器特異性 MeSH lifesciencedb.jp
Protein Biosynthesis 蛋白質生合成 MeSH lifesciencedb.jp
Electrophysiology 電気生理学 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp
Chi-Square Distribution カイ二乗分布 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Repetitive Sequences, Nucleic Acid 核酸反復配列 MeSH lifesciencedb.jp
Regression Analysis 回帰分析 MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Genes 遺伝子 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Gene Frequency 遺伝子頻度 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 9 ヒト第9染色体 MeSH lifesciencedb.jp
Fetus 胎児 MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp
Neuroglia 神経膠 MeSH lifesciencedb.jp
Central Nervous System 中枢神経系 MeSH lifesciencedb.jp
Neurons ニューロン MeSH lifesciencedb.jp
Cerebral Cortex 大脳皮質 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Muscle Fibers, Skeletal 筋線維 MeSH lifesciencedb.jp
Papillary Muscles 乳頭筋 MeSH lifesciencedb.jp
Subarachnoid Space クモ膜下腔 MeSH lifesciencedb.jp
Substantia Innominata 無名質 MeSH lifesciencedb.jp
Pia Mater 軟膜 MeSH lifesciencedb.jp
Locus Coeruleus 青斑 MeSH lifesciencedb.jp
Spinal Cord 脊髄 MeSH lifesciencedb.jp
Intermediate Filaments 中間径フィラメント MeSH lifesciencedb.jp
Hippocampus 海馬 MeSH lifesciencedb.jp
Neurofibrils 神経原線維 MeSH lifesciencedb.jp
Blood-Brain Barrier 血液脳関門 MeSH lifesciencedb.jp
Synapses シナプス MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Nerve Fibers, Myelinated 有髄神経線維 MeSH lifesciencedb.jp
Cerebral Ventricles 脳室 MeSH lifesciencedb.jp
Neuromuscular Junction 神経筋接合部 MeSH lifesciencedb.jp
Eye 眼 MeSH lifesciencedb.jp
Basal Ganglia 基底核 MeSH lifesciencedb.jp
Brain Stem 脳幹 MeSH lifesciencedb.jp
Basement Membrane 基底膜 MeSH lifesciencedb.jp
Chromosomes, Artificial, Yeast 酵母人工染色体 MeSH lifesciencedb.jp
COS Cells COS細胞 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp


Organisms

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


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