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01	231050	-	GELEOPHYSIC DYSPLASIA	幸福顔貌骨異形成

Disease

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	MeSH term	Japanese	Link	01
	Abnormalities, Multiple	奇形-多発
	Contracture	拘縮
	Hand Deformities, Congenital	手の形態異常-先天性
	Dwarfism	低身長症
	Mitral Valve Stenosis	僧帽弁狭窄症
	Tracheal Stenosis	気管狭窄
	Facies	顔貌
	Mucopolysaccharidosis I	ムコ多糖症I型
	Limb Deformities, Congenital	四肢奇形-先天性
	Heart Defects, Congenital	心臓疾患-先天性
	Foot Deformities, Congenital	足の形態異常-先天性
	Heart Valve Diseases	心臓弁膜症
	Hepatomegaly	肝腫脹
	Liver Cirrhosis	肝硬変
	Growth Disorders	成長障害
	Metabolism, Inborn Errors	代謝異常-先天性
	Skin Abnormalities	皮膚先天異常
	Hypertelorism	隔離症
	Osteochondrodysplasias	骨軟骨形成異常症
	Syndrome	症候群

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Chemicals

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	MeSH term	Japanese	Link	01
	Glycoproteins	糖蛋白質

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Biological Phenomena

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	MeSH term	Japanese	Link	01
	Genes, Recessive	劣性遺伝子
	Psychomotor Performance	精神運動能力
	Gait	歩行
	Consanguinity	血族
	Follow-Up Studies	追跡研究
	Pregnancy	妊娠
	Phenotype	表現型

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Anatomy

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	MeSH term	Japanese	Link	01
	Liver	肝臓
	Ilium	腸骨
	Lysosomes	リソソーム
	Myocardium	心筋
	Extremities	四肢
	Bone and Bones	骨
	Face	顔面

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Organisms

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	MeSH term	Japanese	Link	01
	Humans	ヒト

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