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01
272460
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SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
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Disease
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Chemicals
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Biological Phenomena
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Anatomy
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Organisms
Disease
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MeSH term
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01
Synostosis
骨癒合症
Scoliosis
脊柱側彎症
Abnormalities, Multiple
奇形-多発
Syndrome
症候群
Foot Deformities, Congenital
足の形態異常-先天性
Hand Deformities, Congenital
手の形態異常-先天性
Dwarfism
低身長症
Hernia, Inguinal
鼠径ヘルニア
Spinal Diseases
脊椎疾患
Joint Diseases
関節疾患
Eye Abnormalities
眼奇形
Hearing Loss, Sensorineural
難聴-内耳性
Chemicals
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MeSH term
Japanese
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01
Contractile Proteins
収縮性蛋白質
Codon, Terminator
終止コドン
Microfilament Proteins
ミクロフィラメント蛋白質
Biological Phenomena
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MeSH term
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01
Codon, Terminator
終止コドン
Protein Transport
蛋白質輸送
Chromosomes, Human, Pair 3
ヒト第3染色体
Signal Transduction
シグナルトランスダクション
Consanguinity
血族
Homozygote
ホモ接合体
Point Mutation
点変異
Genes, Recessive
劣性遺伝子
Heterozygote
ヘテロ接合体
Phenotype
表現型
Anatomy
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MeSH term
Japanese
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01
Tarsal Bones
足根骨
Carpal Bones
手根骨
Spine
脊柱
Thoracic Vertebrae
胸椎
Cervical Vertebrae
頸椎
Chromosomes, Human, Pair 3
ヒト第3染色体
Joints
関節
Face
顔面
Organisms
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MeSH term
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01
Humans
ヒト
Database Center for Life Science