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01 208150 - PENA-SHOKEIR SYNDROME, TYPE I - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Arthrogryposis 関節拘縮 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Ankylosis 関節強直症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Polyhydramnios 羊水過多症 MeSH lifesciencedb.jp
Pterygium 翼状片 MeSH lifesciencedb.jp
Neuromuscular Diseases 神経筋疾患 MeSH lifesciencedb.jp
Myasthenia Gravis 重症筋無力症 MeSH lifesciencedb.jp
Hypokinesia 運動低下症 MeSH lifesciencedb.jp
Fetal Growth Retardation 胎児成長遅滞 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Clubfoot 内反足 MeSH lifesciencedb.jp
Edema 浮腫 MeSH lifesciencedb.jp
Hypoxia-Ischemia, Brain 低酸素性虚血性脳症 MeSH lifesciencedb.jp
Glycogen Storage Disease Type IV 糖原病IV型 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Central Nervous System Vascular Malformations 中枢神経系血管奇形 MeSH lifesciencedb.jp
Hydranencephaly 水頭性無脳症 MeSH lifesciencedb.jp
Cadaver 死体 MeSH lifesciencedb.jp
Disease 疾患 MeSH lifesciencedb.jp
Thymus Hyperplasia 胸腺過形成 MeSH lifesciencedb.jp
Fractures, Bone 骨折 MeSH lifesciencedb.jp
Aortic Coarctation 大動脈縮窄症 MeSH lifesciencedb.jp
Respiratory System Abnormalities 呼吸器系奇形 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Oligohydramnios 羊水過少症 MeSH lifesciencedb.jp
Limb Deformities, Congenital 四肢奇形-先天性 MeSH lifesciencedb.jp
Cardiomegaly 心臓肥大 MeSH lifesciencedb.jp
Paralysis 麻痺 MeSH lifesciencedb.jp
Dislocations 脱臼 MeSH lifesciencedb.jp
Klippel-Feil Syndrome Klippel-Feil症候群 MeSH lifesciencedb.jp
Muscular Atrophy, Spinal 筋萎縮症-脊髄性 MeSH lifesciencedb.jp
Cryptorchidism 停留精巣 MeSH lifesciencedb.jp
Nervous System Diseases 神経系疾患 MeSH lifesciencedb.jp
Basal Ganglia Diseases 基底核疾患 MeSH lifesciencedb.jp
Spinal Cord Diseases 脊髄疾患 MeSH lifesciencedb.jp
Blepharoptosis 眼瞼下垂 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Autoimmune Diseases 自己免疫疾患 MeSH lifesciencedb.jp
Skin Abnormalities 皮膚先天異常 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Muscular Diseases 筋疾患 MeSH lifesciencedb.jp
Skin Diseases 皮膚疾患 MeSH lifesciencedb.jp
Ectodermal Dysplasia 外胚葉異形成症 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Recurrence 再発 MeSH lifesciencedb.jp
Heart Defects, Congenital 心臓疾患-先天性 MeSH lifesciencedb.jp
Disease Models, Animal 疾患モデル(動物) MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Bone Diseases, Developmental 骨発育異常 MeSH lifesciencedb.jp
Cleft Lip 口唇裂 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Cleft Palate 口蓋裂 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Receptors, Cholinergic アセチルコリン受容体 MeSH lifesciencedb.jp
Antibodies 抗体 MeSH lifesciencedb.jp
1,4-alpha-Glucan Branching Enzyme アミロペクチン分枝酵素 MeSH lifesciencedb.jp
Antibodies, Blocking 阻止抗体 MeSH lifesciencedb.jp
Fetal Proteins 胎児蛋白質 MeSH lifesciencedb.jp
Bungarotoxins ブンガロトキシン MeSH lifesciencedb.jp
Tubocurarine ツボクラリン MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Autoantibodies 自己抗体 MeSH lifesciencedb.jp
Antigens 抗原 MeSH lifesciencedb.jp
Adenosine Triphosphatases - MeSH lifesciencedb.jp
Muscle Proteins 筋蛋白質 MeSH lifesciencedb.jp
Antibodies, Monoclonal モノクローナル抗体 MeSH lifesciencedb.jp
Immunoglobulin G 免疫グロブリンG 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
Fetal Movement 胎動 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Embryonic and Fetal Development 胚と胎児の成長 MeSH lifesciencedb.jp
Gestational Age 在胎月齢 MeSH lifesciencedb.jp
Seroepidemiologic Studies 血清疫学研究 MeSH lifesciencedb.jp
Muscle Development 筋形成 MeSH lifesciencedb.jp
Infectious Disease Transmission, Vertical 疾病垂直伝播 MeSH lifesciencedb.jp
Pregnancy Trimester, First 妊娠前期 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
RNA Splice Sites RNAスプライス部位 MeSH lifesciencedb.jp
Inbreeding 近交交配 MeSH lifesciencedb.jp
Genetic Counseling 遺伝相談 MeSH lifesciencedb.jp
Medical Records 診療録 MeSH lifesciencedb.jp
Risk リスク MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Antibody Specificity 抗体特異性 MeSH lifesciencedb.jp
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Protein Conformation 蛋白質高次構造 MeSH lifesciencedb.jp
Amino Acid Substitution アミノ酸置換 MeSH lifesciencedb.jp
Movement 動作 MeSH lifesciencedb.jp
Registries 登録 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Genes, Lethal 致死遺伝子 MeSH lifesciencedb.jp
Trisomy トリソミー MeSH lifesciencedb.jp
Sequence Deletion 配列欠失 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Immunohistochemistry 免疫組織化学 MeSH lifesciencedb.jp
Twins, Monozygotic 一卵性双生児 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Genetic Heterogeneity 遺伝的異質性 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Age of Onset 発病年齢 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Lung MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Muscles MeSH lifesciencedb.jp
Fetus 胎児 MeSH lifesciencedb.jp
Spinal Cord 脊髄 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Muscle, Skeletal 骨格筋 MeSH lifesciencedb.jp
Central Nervous System 中枢神経系 MeSH lifesciencedb.jp
Muscle Spindles 筋紡錘 MeSH lifesciencedb.jp
Motor Endplate 運動終板 MeSH lifesciencedb.jp
Synapses シナプス MeSH lifesciencedb.jp
Umbilical Cord 臍帯 MeSH lifesciencedb.jp
Fetal Blood 臍帯血 MeSH lifesciencedb.jp
Hip 股関節部 MeSH lifesciencedb.jp
Neuromuscular Junction 神経筋接合部 MeSH lifesciencedb.jp
Back 背部 MeSH lifesciencedb.jp
Nose MeSH lifesciencedb.jp
Bone and Bones MeSH lifesciencedb.jp
Ear, External 外耳 MeSH lifesciencedb.jp
Knee MeSH lifesciencedb.jp
Facial Bones 顔面骨 MeSH lifesciencedb.jp
Thyroid Gland 甲状腺 MeSH lifesciencedb.jp
Elbow MeSH lifesciencedb.jp
Embryo, Mammalian Embryo, Mammalian MeSH lifesciencedb.jp
Connective Tissue 結合組織 MeSH lifesciencedb.jp
Ulna 尺骨 MeSH lifesciencedb.jp
Extremities 四肢 MeSH lifesciencedb.jp
Head 頭部 MeSH lifesciencedb.jp
Motor Neurons 運動ニューロン MeSH lifesciencedb.jp
Brain Stem 脳幹 MeSH lifesciencedb.jp
Thumb 母指 MeSH lifesciencedb.jp
Femur 大腿骨 MeSH lifesciencedb.jp
Palate 口蓋 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 18 ヒト第18染色体 MeSH lifesciencedb.jp
Liver 肝臓 MeSH lifesciencedb.jp
Mandible 下顎骨 MeSH lifesciencedb.jp
Erythrocytes 赤血球 MeSH lifesciencedb.jp
Brain MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Skin 皮膚 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Rats, Inbred Strains 近交系ラット MeSH lifesciencedb.jp
Rats ラット MeSH lifesciencedb.jp
Mice, Inbred Strains 近交系マウス MeSH lifesciencedb.jp
Humans ヒト MeSH lifesciencedb.jp
Animals 動物 MeSH lifesciencedb.jp
Mice マウス MeSH lifesciencedb.jp



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