OMIM → Related disease, drugs, ...
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01
241850
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HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
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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
Hypothyroidism
甲状腺機能低下症
Cleft Palate
口蓋裂
Choanal Atresia
後鼻孔閉鎖症
Congenital Hypothyroidism
クレチン症
Hair Diseases
毛髪疾患
Abnormalities, Multiple
奇形-多発
Syndrome
症候群
Chemicals
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MeSH term
Japanese
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01
Forkhead Transcription Factors
FKH遺伝子産物
Repressor Proteins
レプレッサー蛋白質
DNA-Binding Proteins
DNA結合タンパク
DNA
デオキシリボ核酸
Transcription Factors
転写因子
RNA, Messenger
メッセンジャーRNA
Biological Phenomena
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MeSH term
Japanese
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01
Protein Binding
蛋白質結合
Sequence Homology, Amino Acid
アミノ酸配列相同性
Mutation, Missense
ミスセンス変異
Genes, Regulator
調節遺伝子
Amino Acid Sequence
アミノ酸配列
Organ Specificity
臓器特異性
Polymorphism, Single-Stranded Conformational
PCR-SSCP法
Consanguinity
血族
Point Mutation
点変異
Anatomy
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MeSH term
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01
Thyroid Gland
甲状腺
Hair
毛
Testis
精巣
Cell Line
細胞系
Fibroblasts
線維芽細胞
Organisms
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MeSH term
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01
Humans
ヒト
Database Center for Life Science