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01	602849	-	MUENKE SYNDROME	-

Disease

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	MeSH term	Japanese	Link	01
	Craniosynostoses	頭蓋骨癒合症
	Hearing Loss, Sensorineural	難聴-内耳性
	Acrocephalosyndactylia	尖頭合指症
	Syndrome	症候群
	Klippel-Feil Syndrome	Klippel-Feil症候群
	Hearing Loss, Bilateral	難聴-両側性
	Synostosis	骨癒合症
	Facies	顔貌
	Intellectual Disability	精神発達遅滞
	Foot Deformities, Congenital	足の形態異常-先天性
	Bone Diseases, Developmental	骨発育異常
	Hand Deformities, Congenital	手の形態異常-先天性
	Deafness	聾

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Chemicals

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	MeSH term	Japanese	Link	01
	Receptor, Fibroblast Growth Factor, Type 3	線維芽細胞増殖因子受容体-3
	Receptors, Fibroblast Growth Factor	線維芽細胞増殖因子受容体
	Protein-Tyrosine Kinases	Protein-Tyrosine Kinases
	Proline	プロリン
	Arginine	アルギニン
	Fibroblast Growth Factors	線維芽細胞増殖因子
	Twist Transcription Factor	Cetwist蛋白質
	Nuclear Proteins	核内蛋白質
	DNA	デオキシリボ核酸

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Biological Phenomena

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	MeSH term	Japanese	Link	01
	Point Mutation	点変異
	Amino Acid Substitution	アミノ酸置換
	Intracranial Pressure	頭蓋内圧
	Mutation	変異
	Paternal Age	父性年齢
	Mutation, Missense	ミスセンス変異
	Phenotype	表現型
	Chromosomes, Human, Pair 4	ヒト第4染色体
	Protein Structure, Tertiary	蛋白質三次構造
	Repetitive Sequences, Nucleic Acid	核酸反復配列
	Sequence Homology, Amino Acid	アミノ酸配列相同性
	Gene Expression	遺伝子発現
	Age Factors	年齢因子
	Heterozygote	ヘテロ接合体
	Genes, Dominant	優性遺伝子
	Risk Factors	危険因子
	Amino Acid Sequence	アミノ酸配列
	Genetic Linkage	連鎖(遺伝学)
	Base Sequence	塩基配列

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Anatomy

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	MeSH term	Japanese	Link	01
	Shoulder	肩
	Ear	耳
	Toes	足指
	Chromosomes, Human, Pair 4	ヒト第4染色体
	Skull	頭蓋骨
	Fingers	手指

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Organisms

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	MeSH term	Japanese	Link	01
	Mice, Knockout	ノックアウトマウス
	Mice	マウス
	Animals	動物
	Humans	ヒト

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Database Center for Life Science