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01
211960
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CAMPTODACTYLY WITH MUSCULAR HYPOPLASIA, SKELETAL DYSPLASIA, AND ABNORMAL PALMAR CREASES
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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
Syndrome
症候群
Muscular Diseases
筋疾患
Bone Diseases, Developmental
骨発育異常
Fibrous Dysplasia of Bone
骨異形成症-線維性
Abnormalities, Multiple
奇形-多発
Hand Deformities, Congenital
手の形態異常-先天性
Connective Tissue Diseases
結合組織疾患
Mitral Valve Prolapse
僧帽弁逸脱
Facial Asymmetry
顔面非対称
Chemicals
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MeSH term
Japanese
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01
Creatine Kinase
クレアチンキナーゼ
Biological Phenomena
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MeSH term
Japanese
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01
Genes, Recessive
劣性遺伝子
Consanguinity
血族
Heterozygote
ヘテロ接合体
Phenotype
表現型
Anatomy
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MeSH term
Japanese
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01
Fingers
手指
Muscles
筋
Orbit
眼窩
Hand
手
Toes
足指
Face
顔面
Organisms
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MeSH term
Japanese
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01
Humans
ヒト
Database Center for Life Science