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01	256050	AOII	ATELOSTEOGENESIS, TYPE II	-

Disease

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	MeSH term	Japanese	Link	01
	Osteochondrodysplasias	骨軟骨形成異常症
	Bone Diseases, Developmental	骨発育異常
	Parathyroid Neoplasms	上皮小体腫瘍
	Exostoses, Multiple Hereditary	骨軟骨腫-多発性遺伝性
	Hepatomegaly	肝腫脹
	Pancreatic Neoplasms	膵臓腫瘍
	Adrenal Gland Neoplasms	副腎腫瘍
	Foot Deformities, Congenital	足の形態異常-先天性
	Connective Tissue Diseases	結合組織疾患
	Abnormalities, Multiple	奇形-多発
	Dwarfism	低身長症
	Chromosome Disorders	染色体疾患
	Syndrome	症候群
	Chromosome Aberrations	染色体異常

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Chemicals

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	MeSH term	Japanese	Link	01
	Anion Transport Proteins	陰イオン輸送蛋白質
	Membrane Transport Proteins	膜輸送蛋白質
	Sulfates	硫酸塩
	Carrier Proteins	担体蛋白質
	alpha-Fetoproteins	アルファ-フェトプロテイン
	Proteoglycans	プロテオグリカン

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Biological Phenomena

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	MeSH term	Japanese	Link	01
	Biological Transport	生物学的輸送
	Osteogenesis	骨形成
	Consanguinity	血族
	Phenotype	表現型
	Gestational Age	在胎月齢
	Genes, Recessive	劣性遺伝子
	Pregnancy	妊娠
	Chromosomes, Human, Pair 5	ヒト第5染色体
	Genotype	遺伝子型
	Polymorphism, Single-Stranded Conformational	PCR-SSCP法
	Sequence Deletion	配列欠失
	Gene Expression	遺伝子発現
	Chromosome Aberrations	染色体異常
	Point Mutation	点変異
	Heterozygote	ヘテロ接合体
	Base Sequence	塩基配列
	Mutation	変異

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Anatomy

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	MeSH term	Japanese	Link	01
	Fibula	腓骨
	Bone and Bones	骨
	Growth Plate	成長板
	Extremities	四肢
	Radius	橈骨
	Fibroblasts	線維芽細胞
	Chromosomes, Human, Pair 5	ヒト第5染色体
	Thymus Gland	胸腺
	Cells, Cultured	培養細胞

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Organisms

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	MeSH term	Japanese	Link	01
	Animals	動物
	Humans	ヒト

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Database Center for Life Science