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01 606612 MDC1C MUSCULAR DYSTROPHY, CONGENITAL, 1C - 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
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Central Nervous System Cysts 中枢神経系嚢胞 MeSH lifesciencedb.jp
Hypoventilation 呼吸低下 MeSH lifesciencedb.jp
Ventricular Dysfunction, Left 左心室機能障害 MeSH lifesciencedb.jp
Muscular Dystrophy, Duchenne 筋ジストロフィー-Duchenne型 MeSH lifesciencedb.jp
Cerebellar Diseases 小脳疾患 MeSH lifesciencedb.jp
Heart Failure Heart Failure MeSH lifesciencedb.jp
Respiratory Insufficiency 呼吸不全 MeSH lifesciencedb.jp
Cysts 嚢胞 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 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
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Proteins 蛋白質 MeSH lifesciencedb.jp
Laminin メロシン MeSH lifesciencedb.jp
Dystroglycans ジストログリカン 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
Muscle Proteins 筋蛋白質 MeSH lifesciencedb.jp
Asparagine アスパラギン MeSH lifesciencedb.jp
Aspartic Acid アスパラギン酸 MeSH lifesciencedb.jp
Dystrophin ジストロフィン MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Glycoproteins 糖蛋白質 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
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Glycosylation - MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Protein Processing, Post-Translational 翻訳後蛋白質プロセシング MeSH lifesciencedb.jp
Founder Effect 創始者効果 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Up-Regulation アップレギュレーション MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Polymorphism, Genetic 遺伝子多型 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
Base Sequence 塩基配列 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Peripheral Nervous System 末梢神経系 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 19 ヒト第19染色体 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science