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01
607326
SMC
SMITH-MCCORT DYSPLASIA
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Disease
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Chemicals
:
Biological Phenomena
:
Anatomy
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Organisms
Disease
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MeSH term
Japanese
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01
Osteochondrodysplasias
骨軟骨形成異常症
Intellectual Disability
精神発達遅滞
Mucopolysaccharidosis IV
ムコ多糖症IV型
Spinal Cord Compression
脊髄圧迫
Syndrome
症候群
Carbohydrate Metabolism, Inborn Errors
炭水化物代謝異常-先天性
Limb Deformities, Congenital
四肢奇形-先天性
Dwarfism
低身長症
Growth Disorders
成長障害
Chemicals
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MeSH term
Japanese
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01
Proteins
蛋白質
Biological Phenomena
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MeSH term
Japanese
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01
Chromosomes, Human, Pair 18
ヒト第18染色体
Consanguinity
血族
Mutation
変異
Evolution, Molecular
分子進化
Phylogeny
系統発生
Base Sequence
塩基配列
Genetic Heterogeneity
遺伝的異質性
Sequence Homology, Amino Acid
アミノ酸配列相同性
Sequence Deletion
配列欠失
Homozygote
ホモ接合体
Genes, Recessive
劣性遺伝子
Alleles
対立遺伝子
Amino Acid Sequence
アミノ酸配列
Genetic Linkage
連鎖(遺伝学)
Phenotype
表現型
Anatomy
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MeSH term
Japanese
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01
Chromosomes, Human, Pair 18
ヒト第18染色体
Endoplasmic Reticulum, Rough
粗面小胞体
Growth Plate
成長板
Ilium
腸骨
Pelvis
骨盤
Extremities
四肢
Cartilage
軟骨
Spine
脊柱
Hand
手
Bone and Bones
骨
Fibroblasts
線維芽細胞
Organisms
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MeSH term
Japanese
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01
Humans
ヒト
Database Center for Life Science