OMIM → Related disease, drugs, ...
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01
220500
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DEAFNESS, CONGENITAL, AND ONYCHODYSTROPHY, RECESSIVE FORM
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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
Japanese
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01
Nails, Malformed
爪-変形
Deafness
聾
Intellectual Disability
精神発達遅滞
Abnormalities, Multiple
奇形-多発
Syndrome
症候群
Bone Diseases, Developmental
骨発育異常
Seizures
けいれん性発作
Decalcification, Pathologic
脱灰現象-病的
Nail-Patella Syndrome
爪・膝蓋骨症候群
Hand Deformities, Congenital
手の形態異常-先天性
Bone Diseases
骨疾患
Facies
顔貌
Craniofacial Abnormalities
頭蓋顔面奇形
Ectodermal Dysplasia
外胚葉異形成症
Foot Deformities, Congenital
足の形態異常-先天性
Chemicals
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MeSH term
Japanese
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01
Ketoglutaric Acids
オキソグルタル酸塩
Ketoglutarate Dehydrogenase Complex
ケトグルタル酸デヒドロゲナーゼ複合体
Carbon Radioisotopes
炭素放射性同位体
Biological Phenomena
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MeSH term
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01
Genes, Recessive
劣性遺伝子
Consanguinity
血族
Genetic Heterogeneity
遺伝的異質性
Case-Control Studies
症例対照研究
Genes, Dominant
優性遺伝子
Anatomy
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MeSH term
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01
Fingers
手指
Toes
足指
Bone and Bones
骨
Leukocytes
白血球
Fibroblasts
線維芽細胞
Kidney
腎臓
Brain
脳
Face
顔面
Organisms
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MeSH term
Japanese
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01
Humans
ヒト
Database Center for Life Science