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01 214150 COFS1 CEREBROOCULOFACIOSKELETAL SYNDROME 1 - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Syndrome 症候群 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Chromosome Disorders 染色体疾患 MeSH lifesciencedb.jp
Microcephaly 小頭症 MeSH lifesciencedb.jp
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Hypotension 低血圧 MeSH lifesciencedb.jp
Cataract 白内障 MeSH lifesciencedb.jp
Kyphosis 脊柱後彎症 MeSH lifesciencedb.jp
Arthrogryposis 関節拘縮 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Musculoskeletal Abnormalities 筋骨格系奇形 MeSH lifesciencedb.jp
Ankylosis 関節強直症 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Clubfoot 内反足 MeSH lifesciencedb.jp
Micrognathism 小顎症 MeSH lifesciencedb.jp
Cockayne Syndrome Cockayne症候群 MeSH lifesciencedb.jp
Failure to Thrive 成長不全 MeSH lifesciencedb.jp
Osteopetrosis 大理石骨病 MeSH lifesciencedb.jp
Microphthalmos 小眼球症 MeSH lifesciencedb.jp
Contracture 拘縮 MeSH lifesciencedb.jp
Xeroderma Pigmentosum 乾皮症-色素性 MeSH lifesciencedb.jp
Fetal Death 胎児死亡 MeSH lifesciencedb.jp
Muscular Atrophy 筋萎縮症 MeSH lifesciencedb.jp
Joint Diseases 関節疾患 MeSH lifesciencedb.jp
Fetal Diseases 胎児疾患 MeSH lifesciencedb.jp
Osteoporosis 骨粗鬆症 MeSH lifesciencedb.jp
Diseases in Twins 双生児の疾患 MeSH lifesciencedb.jp
Pregnancy Complications 妊娠合併症 MeSH lifesciencedb.jp
Atrophy 萎縮 MeSH lifesciencedb.jp
Growth Disorders 成長障害 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Muscular Dystrophies 筋ジストロフィー MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
DNA Helicases DNAヘリカーゼ MeSH lifesciencedb.jp
Xeroderma Pigmentosum Group D Protein - MeSH lifesciencedb.jp
Transcription Factors 転写因子 MeSH lifesciencedb.jp
Proteins 蛋白質 MeSH lifesciencedb.jp
DNA Repair Enzymes DNA修復酵素類 MeSH lifesciencedb.jp
DNA-Binding Proteins DNA結合タンパク MeSH lifesciencedb.jp


Biological Phenomena

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 MeSH term Japanese Link 01
Chromosome Aberrations 染色体異常 MeSH lifesciencedb.jp
Pregnancy 妊娠 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Ultraviolet Rays 紫外線 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Triplets 三胎 MeSH lifesciencedb.jp
Base Pair Mismatch ミスマッチ塩基対 MeSH lifesciencedb.jp
Chromosomes, Human, 13-15 ヒト第13-15染色体 MeSH lifesciencedb.jp
Twins, Dizygotic 二卵性双生児 MeSH lifesciencedb.jp
DNA Replication DNA複製 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
DNA Repair DNA修復 MeSH lifesciencedb.jp
Translocation, Genetic 転座 MeSH lifesciencedb.jp
Amino Acid Sequence アミノ酸配列 MeSH lifesciencedb.jp
Mutation, Missense ミスセンス変異 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Retrospective Studies 後向き研究 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Face 顔面 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Cerebellum 小脳 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Joints 関節 MeSH lifesciencedb.jp
Hip 股関節部 MeSH lifesciencedb.jp
Purkinje Cells Purkinje細胞 MeSH lifesciencedb.jp
Thorax 胸郭 MeSH lifesciencedb.jp
Knee 膝 MeSH lifesciencedb.jp
Myofibrils 筋原線維 MeSH lifesciencedb.jp
Ulna 尺骨 MeSH lifesciencedb.jp
Eyelids 眼瞼 MeSH lifesciencedb.jp
Ear, External 外耳 MeSH lifesciencedb.jp
Chromosomes, Human, 13-15 ヒト第13-15染色体 MeSH lifesciencedb.jp
Nose 鼻 MeSH lifesciencedb.jp
Corpus Callosum 脳梁 MeSH lifesciencedb.jp
Amniotic Fluid 羊水 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp
Frontal Lobe 前頭葉 MeSH lifesciencedb.jp
Fingers 手指 MeSH lifesciencedb.jp
Cerebral Cortex 大脳皮質 MeSH lifesciencedb.jp
Muscles 筋 MeSH lifesciencedb.jp
Lung 肺 MeSH lifesciencedb.jp
Kidney 腎臓 MeSH lifesciencedb.jp
Fibroblasts 線維芽細胞 MeSH lifesciencedb.jp
Cells, Cultured 培養細胞 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science