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01 254090 UCMD ULLRICH 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
Hyperhidrosis 多汗症 MeSH lifesciencedb.jp
Distal Myopathies 筋疾患-遠位型 MeSH lifesciencedb.jp
Connective Tissue Diseases 結合組織疾患 MeSH lifesciencedb.jp
Respiratory Tract Infections 気道感染 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Sclerosis 硬化症 MeSH lifesciencedb.jp
Joint Instability 関節不安定症 MeSH lifesciencedb.jp
Kyphosis 脊柱後彎症 MeSH lifesciencedb.jp
Turner Syndrome Turner症候群 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Muscle Weakness 筋力低下 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Collagen Diseases 膠原病 MeSH lifesciencedb.jp
Ehlers-Danlos Syndrome Ehlers-Danlos症候群 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Recurrence 再発 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 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



Chemicals

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MeSH term Japanese Link 01
Collagen Type VI コラーゲンVI型 MeSH lifesciencedb.jp
RNA, Messenger メッセンジャーRNA MeSH lifesciencedb.jp
HSP47 Heat-Shock Proteins 熱ショック蛋白質47 MeSH lifesciencedb.jp
Cyclosporins シクロスポリン類 MeSH lifesciencedb.jp
DNA, Complementary 相補的DNA MeSH lifesciencedb.jp
Laminin メロシン MeSH lifesciencedb.jp
Creatine Kinase クレアチンキナーゼ MeSH lifesciencedb.jp
Glycine アミノ酢酸 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
Collagen 膠原 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Genomics ゲノミクス MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Inheritance Patterns 遺伝パターン MeSH lifesciencedb.jp
Dimerization 二量化 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Penetrance 浸透度(遺伝学) MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Cell Adhesion 細胞接着 MeSH lifesciencedb.jp
Sequence Homology, Nucleic Acid 核酸配列相同性 MeSH lifesciencedb.jp
Immunity, Cellular 細胞性免疫 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Codon, Nonsense ナンセンスコドン MeSH lifesciencedb.jp
RNA Splicing RNAスプライシング MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp
Genetics, Medical 医科遺伝学 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Protein Binding 蛋白質結合 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Gene Deletion 遺伝子欠失 MeSH lifesciencedb.jp
Predictive Value of Tests 検査予測値 MeSH lifesciencedb.jp
Apoptosis アポトーシス MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genetic Testing 遺伝学的スクリーニング MeSH lifesciencedb.jp
Microsatellite Repeats マイクロサテライトリピート MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Heterozygote ヘテロ接合体 MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー 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



Anatomy

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MeSH term Japanese Link 01
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Microfibrils 微細線維 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Sarcolemma 筋線維鞘 MeSH lifesciencedb.jp
Myofibrils 筋原線維 MeSH lifesciencedb.jp
Connective Tissue 結合組織 MeSH lifesciencedb.jp
Cytoskeleton 細胞骨格 MeSH lifesciencedb.jp
Extracellular Matrix 細胞外基質 MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp
Mitochondria, Muscle 筋ミトコンドリア MeSH lifesciencedb.jp
Spinal Cord 脊髄 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 2 ヒト第2染色体 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



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