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01 602771 RSMD1 RIGID SPINE MUSCULAR DYSTROPHY 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Spinal Diseases 脊椎疾患 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Muscle Rigidity 筋硬直 MeSH lifesciencedb.jp
Respiratory Insufficiency 呼吸不全 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Cheyne-Stokes Respiration Cheyne-Stokes呼吸 MeSH lifesciencedb.jp
Muscle Weakness 筋力低下 MeSH lifesciencedb.jp
Stiff-Person Syndrome Stiff-Man症候群 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Lordosis 脊柱前彎症 MeSH lifesciencedb.jp
Joint Diseases 関節疾患 MeSH lifesciencedb.jp
Sleep Apnea, Central 睡眠時無呼吸-中枢性 MeSH lifesciencedb.jp
Pulmonary Heart Disease 肺性心 MeSH lifesciencedb.jp
Disorders of Excessive Somnolence 睡眠過剰 MeSH lifesciencedb.jp
Myopathies, Nemaline ネマリンミオパシー MeSH lifesciencedb.jp
Anoxia 酸素欠乏 MeSH lifesciencedb.jp
Sleep Apnea Syndromes 睡眠時無呼吸症候群 MeSH lifesciencedb.jp
Heart Failure Heart Failure MeSH lifesciencedb.jp
Necrosis 壊死 MeSH lifesciencedb.jp
Ophthalmoplegia 眼筋麻痺 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Lung Diseases 肺疾患 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Chronic Disease 慢性疾患 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
Selenoproteins セレノプロテイン MeSH lifesciencedb.jp
Desmin デスミン MeSH lifesciencedb.jp
Muscle Proteins 筋蛋白質 MeSH lifesciencedb.jp
Creatine Kinase クレアチンキナーゼ MeSH lifesciencedb.jp
Thymopoietins チモポエチン MeSH lifesciencedb.jp
Ubiquitins ユビキチン様蛋白質 MeSH lifesciencedb.jp
Laminin メロシン MeSH lifesciencedb.jp
Dystrophin ジストロフィン MeSH lifesciencedb.jp
Oxygen 酸素 MeSH lifesciencedb.jp
Adenosine Triphosphatases - MeSH lifesciencedb.jp
Nuclear Proteins 核内蛋白質 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
Membrane Proteins 膜蛋白質 MeSH lifesciencedb.jp
DNA デオキシリボ核酸 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
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Sleep, REM レム睡眠 MeSH lifesciencedb.jp
Polymorphism, Single-Stranded Conformational PCR-SSCP法 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Necrosis 壊死 MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Point Mutation 点変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genetic Predisposition to Disease 遺伝的素因(疾患) MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Muscles MeSH lifesciencedb.jp
Myofibrils 筋原線維 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Cardiovascular System 循環器系 MeSH lifesciencedb.jp
Sarcoplasmic Reticulum 筋小胞体 MeSH lifesciencedb.jp
Diaphragm 横隔膜 MeSH lifesciencedb.jp
Respiratory Muscles 呼吸筋 MeSH lifesciencedb.jp
Thoracic Vertebrae 胸椎 MeSH lifesciencedb.jp
Connective Tissue 結合組織 MeSH lifesciencedb.jp
Cervical Vertebrae 頸椎 MeSH lifesciencedb.jp
Adipose Tissue 脂肪組織 MeSH lifesciencedb.jp
Arm 上腕 MeSH lifesciencedb.jp
Lumbar Vertebrae 腰椎 MeSH lifesciencedb.jp
Endoplasmic Reticulum 小胞体 MeSH lifesciencedb.jp
Respiratory System 呼吸器系 MeSH lifesciencedb.jp
Mitochondria, Muscle 筋ミトコンドリア MeSH lifesciencedb.jp
Motor Neurons 運動ニューロン MeSH lifesciencedb.jp
Leg 下腿 MeSH lifesciencedb.jp
Cytoplasm 細胞質 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals 動物 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science