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01
183700
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SPLIT-FOOT DEFORMITY WITH MANDIBULOFACIAL DYSOSTOSIS
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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
Foot Deformities, Congenital
足の形態異常-先天性
Prognathism
顎前突症
Epilepsy, Tonic-Clonic
てんかん-強直間代性
Mandibulofacial Dysostosis
下顎顔面異骨症
Abnormalities, Multiple
奇形-多発
Chromosome Breakage
染色体切断
Syndactyly
合指症
Microcephaly
小頭症
Syndrome
症候群
Cleft Palate
口蓋裂
Translocation, Genetic
転座
Intellectual Disability
精神発達遅滞
Chemicals
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MeSH term
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01
Vesicular Transport Proteins
小胞輸送蛋白質
RNA Splice Sites
RNAスプライス部位
Carrier Proteins
担体蛋白質
Biological Phenomena
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MeSH term
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01
RNA Splice Sites
RNAスプライス部位
Chromosome Breakage
染色体切断
Chromosomes, Human, Pair 13
ヒト第13染色体
Chromosomes, Human, Pair 6
ヒト第6染色体
Alternative Splicing
選択的スプライシング
Genetic Heterogeneity
遺伝的異質性
Translocation, Genetic
転座
Genes, Dominant
優性遺伝子
Follow-Up Studies
追跡研究
Amino Acid Sequence
アミノ酸配列
Base Sequence
塩基配列
Phenotype
表現型
Anatomy
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MeSH term
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01
Ear, External
外耳
Ear
耳
Chromosomes, Human, Pair 13
ヒト第13染色体
Toes
足指
Chromosomes, Human, Pair 6
ヒト第6染色体
Face
顔面
Organisms
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MeSH term
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01
Humans
ヒト
Database Center for Life Science