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01 255800 SJS1 SCHWARTZ-JAMPEL SYNDROME, TYPE 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Osteochondrodysplasias 骨軟骨形成異常症 MeSH lifesciencedb.jp
Myotonia 筋緊張症 MeSH lifesciencedb.jp
Eyelid Diseases 眼瞼疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Dwarfism 低身長症 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp
Blepharospasm 眼瞼けいれん MeSH lifesciencedb.jp
Carpal Tunnel Syndrome 手根管症候群 MeSH lifesciencedb.jp
Myotonic Disorders 筋緊張性障害 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Myotonia Congenita 筋緊張症-先天性 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Respiratory Insufficiency 呼吸不全 MeSH lifesciencedb.jp
Maxillofacial Abnormalities 顎顔面奇形 MeSH lifesciencedb.jp
Phimosis 包茎 MeSH lifesciencedb.jp
Bone Diseases 骨疾患 MeSH lifesciencedb.jp
Lordosis 脊柱前彎症 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Myotonic Dystrophy 筋緊張性ジストロフィー MeSH lifesciencedb.jp
Osteochondritis 骨軟骨炎 MeSH lifesciencedb.jp
Myopathies, Structural, Congenital 筋障害-先天性構造性 MeSH lifesciencedb.jp
Fractures, Spontaneous 骨折-自然 MeSH lifesciencedb.jp
Malocclusion 不正咬合 MeSH lifesciencedb.jp
Hip Dislocation, Congenital 股関節脱臼-先天性 MeSH lifesciencedb.jp
Eye Manifestations 眼症状 MeSH lifesciencedb.jp
Hypohidrosis 発汗減少 MeSH lifesciencedb.jp
Mucopolysaccharidosis IV ムコ多糖症IV型 MeSH lifesciencedb.jp
Kyphosis 脊柱後彎症 MeSH lifesciencedb.jp
Micrognathism 小顎症 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Anodontia 無歯症 MeSH lifesciencedb.jp
Malignant Hyperthermia 悪性高熱 MeSH lifesciencedb.jp
Sleep Apnea Syndromes 睡眠時無呼吸症候群 MeSH lifesciencedb.jp
Deglutition Disorders 嚥下障害 MeSH lifesciencedb.jp
Fever 発熱 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Scoliosis 脊柱側彎症 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Muscle Hypotonia 筋緊張低下 MeSH lifesciencedb.jp
Hypertrophy 肥大 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Disease Progression 病勢悪化 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Heparan Sulfate Proteoglycans Heparan Sulfate Proteoglycans MeSH lifesciencedb.jp
Mutant Proteins Mutant Proteins MeSH lifesciencedb.jp
Androstanols アンドロスタノール MeSH lifesciencedb.jp
cdc42 GTP-Binding Protein, Saccharomyces cerevisiae cdc42蛋白質-酵母 MeSH lifesciencedb.jp
Neuromuscular Agents 神経筋作用剤 MeSH lifesciencedb.jp
Botulinum Toxins, Type A ボツリヌス毒素A型 MeSH lifesciencedb.jp
Neuromuscular Nondepolarizing Agents 神経筋非脱分極剤 MeSH lifesciencedb.jp
Propofol プロポフォール MeSH lifesciencedb.jp
Nitrous Oxide 笑気 MeSH lifesciencedb.jp
Neomycin ネオマイシン MeSH lifesciencedb.jp
Anesthetics, Inhalation 吸入麻酔剤 MeSH lifesciencedb.jp
Carbamazepine カルバマゼピン MeSH lifesciencedb.jp
Acetylcholinesterase アセチルコリンエステラーゼ MeSH lifesciencedb.jp
Chorionic Gonadotropin 絨毛性性腺刺激ホルモン MeSH lifesciencedb.jp
GTP-Binding Proteins G蛋白質 MeSH lifesciencedb.jp
Anticonvulsants 抗けいれん剤 MeSH lifesciencedb.jp
DNA Primers プライマー-DNA MeSH lifesciencedb.jp
Potassium カリウム MeSH lifesciencedb.jp
Protein Isoforms アイソフォーム MeSH lifesciencedb.jp
Growth Hormone 成長ホルモン MeSH lifesciencedb.jp
Sodium ナトリウム MeSH lifesciencedb.jp
Arginine アルギニン MeSH lifesciencedb.jp
Cell Cycle Proteins 細胞周期蛋白質 MeSH lifesciencedb.jp
Insulin インスリン MeSH lifesciencedb.jp
Genetic Markers 遺伝子マーカー 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
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Muscle Contraction 筋収縮 MeSH lifesciencedb.jp
Neural Conduction 神経興奮伝導 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Follow-Up Studies 追跡研究 MeSH lifesciencedb.jp
Dental Occlusion 咬合 MeSH lifesciencedb.jp
Mastication 咀嚼 MeSH lifesciencedb.jp
Fetal Movement 胎動 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Blinking まばたき MeSH lifesciencedb.jp
Muscle Tonus 筋緊張 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Pseudogenes 偽遺伝子 MeSH lifesciencedb.jp
Posture 姿勢 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Action Potentials 活動電位 MeSH lifesciencedb.jp
Mutagenesis 変異誘発 MeSH lifesciencedb.jp
Structure-Activity Relationship 構造活性相関 MeSH lifesciencedb.jp
Drug Resistance 薬剤耐性 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Histocytochemistry 組織化学 MeSH lifesciencedb.jp
Species Specificity 種特異性 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Genetic Linkage 連鎖(遺伝学) MeSH lifesciencedb.jp
Alternative Splicing 選択的スプライシング MeSH lifesciencedb.jp
Sex Distribution 性別分布 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Age Distribution 年齢分布 MeSH lifesciencedb.jp
Body Height 身長 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Protein Structure, Tertiary 蛋白質三次構造 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Transcription, Genetic 転写 MeSH lifesciencedb.jp
Introns イントロン MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Sequence Homology, Amino Acid アミノ酸配列相同性 MeSH lifesciencedb.jp
Gene Expression Regulation 遺伝子発現調節 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Dose-Response Relationship, Drug 薬物用量効果相互関係 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Gene Expression 遺伝子発現 MeSH lifesciencedb.jp
Incidence 発生率 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Age Factors 年齢因子 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Alleles 対立遺伝子 MeSH lifesciencedb.jp
Case-Control Studies 症例対照研究 MeSH lifesciencedb.jp
Risk Factors 危険因子 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
Mutation 変異 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Muscles MeSH lifesciencedb.jp
Chromosomes, Human, Pair 1 ヒト第1染色体 MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Facial Muscles 顔面筋 MeSH lifesciencedb.jp
Eyelids 眼瞼 MeSH lifesciencedb.jp
Dental Arch 歯列弓 MeSH lifesciencedb.jp
Lower Extremity 下肢 MeSH lifesciencedb.jp
Masticatory Muscles 咀嚼筋 MeSH lifesciencedb.jp
NIH 3T3 Cells NIH-3T3細胞 MeSH lifesciencedb.jp
Diaphragm 横隔膜 MeSH lifesciencedb.jp
Pharynx 咽頭 MeSH lifesciencedb.jp
Hip 股関節部 MeSH lifesciencedb.jp
Tendons MeSH lifesciencedb.jp
Palate 口蓋 MeSH lifesciencedb.jp
Myofibrils 筋原線維 MeSH lifesciencedb.jp
Lip 口唇 MeSH lifesciencedb.jp
Placenta 胎盤 MeSH lifesciencedb.jp
Oculomotor Muscles 眼筋 MeSH lifesciencedb.jp
Heart 心臓 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Motor Neurons 運動ニューロン MeSH lifesciencedb.jp
Basement Membrane 基底膜 MeSH lifesciencedb.jp
Cartilage 軟骨 MeSH lifesciencedb.jp
Spine 脊柱 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 4 ヒト第4染色体 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 17 ヒト第17染色体 MeSH lifesciencedb.jp
Joints 関節 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Animals, Newborn 新生仔 MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Mice, Knockout ノックアウトマウス MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp



Database Center for Life Science