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01 271225 - SPINAL MUSCULAR ATROPHY, TYPE I, WITH CONGENITAL BONE FRACTURES - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Spinal Muscular Atrophies of Childhood 筋萎縮症-脊髄性-小児 MeSH lifesciencedb.jp
Fractures, Bone 骨折 MeSH lifesciencedb.jp
Humeral Fractures 上腕骨骨折 MeSH lifesciencedb.jp
Femoral Fractures 大腿骨骨折 MeSH lifesciencedb.jp
Arthrogryposis 関節拘縮 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01
Cyclic AMP Response Element-Binding Protein cAMP応答DNA結合蛋白質 MeSH lifesciencedb.jp
RNA-Binding Proteins RNA結合タンパク質 MeSH lifesciencedb.jp
Nerve Tissue Proteins 神経組織蛋白質 MeSH lifesciencedb.jp
Carrier Proteins 担体蛋白質 MeSH lifesciencedb.jp
Transcription Factors 転写因子 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
Fatal Outcome 致死的転帰 MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genetic Variation 遺伝的多様性 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Bone and Bones 骨 MeSH lifesciencedb.jp
X Chromosome X染色体 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science