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01 255310 CFTD MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Myopathies, Structural, Congenital 筋障害-先天性構造性 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Myopathies, Nemaline ネマリンミオパシー MeSH lifesciencedb.jp
Monosomy モノソミー MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Muscle Weakness 筋力低下 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Insulin Resistance インスリン抵抗性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Neural Tube Defects 神経管閉鎖不全 MeSH lifesciencedb.jp
Diabetes Complications 糖尿病性合併症 MeSH lifesciencedb.jp
Respiratory Insufficiency 呼吸不全 MeSH lifesciencedb.jp
Cardiomyopathy, Dilated 心筋症-拡張型 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Muscular Atrophy, Spinal 筋萎縮症-脊髄性 MeSH lifesciencedb.jp
Genetic Diseases, Inborn 遺伝性疾患 MeSH lifesciencedb.jp
Central Nervous System Diseases 中枢神経系疾患 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Peripheral Nervous System Diseases 末梢神経系疾患 MeSH lifesciencedb.jp
Seizures けいれん性発作 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 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
Adenosine Triphosphatases - MeSH lifesciencedb.jp
Actins アクチン MeSH lifesciencedb.jp
Myosin Subfragments ミオシンサブフラグメント MeSH lifesciencedb.jp
Selenoproteins セレノプロテイン MeSH lifesciencedb.jp
Proinsulin プロインスリン MeSH lifesciencedb.jp
Proto-Oncogene Proteins 癌原遺伝子蛋白質 MeSH lifesciencedb.jp
Multiprotein Complexes 多蛋白質複合体 MeSH lifesciencedb.jp
Fetal Proteins 胎児蛋白質 MeSH lifesciencedb.jp
C-Peptide C-ペプチド MeSH lifesciencedb.jp
Valine バリン MeSH lifesciencedb.jp
Serine セリン MeSH lifesciencedb.jp
Proline プロリン MeSH lifesciencedb.jp
Aspartic Acid アスパラギン酸 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp
Leucine ロイシン MeSH lifesciencedb.jp
Creatine Kinase クレアチンキナーゼ MeSH lifesciencedb.jp
Muscle Proteins 筋蛋白質 MeSH lifesciencedb.jp
Glucose グルコース MeSH lifesciencedb.jp
Blood Glucose 血糖 MeSH lifesciencedb.jp
Insulin インスリン MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Monosomy モノソミー MeSH lifesciencedb.jp
Insulin Resistance インスリン抵抗性 MeSH lifesciencedb.jp
Chromosome Deletion 染色体欠失 MeSH lifesciencedb.jp
Chromosomes, Artificial, Bacterial 細菌人工染色体 MeSH lifesciencedb.jp
Child Development 小児の発達 MeSH lifesciencedb.jp
Embryonic and Fetal Development 胚と胎児の成長 MeSH lifesciencedb.jp
Proto-Oncogenes 癌原遺伝子 MeSH lifesciencedb.jp
Cephalometry 頭部計測法 MeSH lifesciencedb.jp
Twins 双生児 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Lipid Metabolism Lipid Metabolism MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Gene Expression Regulation, Developmental 発生遺伝子発現調節 MeSH lifesciencedb.jp
Electrophysiology 電気生理学 MeSH lifesciencedb.jp
Oxidation-Reduction 酸化-還元 MeSH lifesciencedb.jp
Body Mass Index Quetelet指数 MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Species Specificity 種特異性 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Transfection トランスフェクション MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Polymorphism, Restriction Fragment Length 制限酵素断片長多型 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Muscles MeSH lifesciencedb.jp
Muscle Fibers, Skeletal 筋線維 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Myofibrils 筋原線維 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Muscle Fibers, Slow-Twitch S型筋線維 MeSH lifesciencedb.jp
Sarcomeres 筋節 MeSH lifesciencedb.jp
Chromosomes, Artificial, Bacterial 細菌人工染色体 MeSH lifesciencedb.jp
Motor Neurons 運動ニューロン MeSH lifesciencedb.jp
Chromosomes, Human, Pair 10 ヒト第10染色体 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Cell Line 細胞系 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, 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