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01 218340 - CRANIOFACIAL DYSMORPHISM WITH OCULAR COLOBOMA, ABSENT CORPUS CALLOSUM, AND AORTIC DILATATION - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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MeSH term Japanese Link 01
Porphyrias ポルフィリン症 MeSH lifesciencedb.jp
Coloboma 眼組織欠損症 MeSH lifesciencedb.jp
Craniofacial Abnormalities 頭蓋顔面奇形 MeSH lifesciencedb.jp
Intellectual Disability 精神発達遅滞 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp



Chemicals

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MeSH term Japanese Link 01
Porphobilinogen Synthase アミノレブリン酸デヒドラターゼ MeSH lifesciencedb.jp
Aminolevulinic Acid アミノレブリン酸 MeSH lifesciencedb.jp



Biological Phenomena

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MeSH term Japanese Link 01
Gene Amplification 遺伝子増幅 MeSH lifesciencedb.jp
Homozygote ホモ接合体 MeSH lifesciencedb.jp
Exons エクソン MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genotype 遺伝子型 MeSH lifesciencedb.jp
Base Sequence 塩基配列 MeSH lifesciencedb.jp
Mutation 変異 MeSH lifesciencedb.jp



Anatomy

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MeSH term Japanese Link 01
Connective Tissue 結合組織 MeSH lifesciencedb.jp
Iris 虹彩 MeSH lifesciencedb.jp
Corpus Callosum 脳梁 MeSH lifesciencedb.jp



Organisms

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MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp



Database Center for Life Science