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01 109120 - AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVE FACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES - OMIM


Disease : Chemicals : Biological Phenomena : Anatomy : Organisms

Disease

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 MeSH term Japanese Link 01
Craniofacial Dysostosis 頭蓋顔面異骨症 MeSH lifesciencedb.jp
Hydrocephalus 水頭症 MeSH lifesciencedb.jp
Eye Abnormalities 眼奇形 MeSH lifesciencedb.jp
Hip Dislocation, Congenital 股関節脱臼-先天性 MeSH lifesciencedb.jp
Cerebellar Diseases 小脳疾患 MeSH lifesciencedb.jp
Hearing Disorders 聴力障害 MeSH lifesciencedb.jp
Psychomotor Disorders 精神運動障害 MeSH lifesciencedb.jp
Abnormalities, Multiple 奇形-多発 MeSH lifesciencedb.jp
Congenital Abnormalities 奇形 MeSH lifesciencedb.jp
Ectodermal Dysplasia 外胚葉異形成症 MeSH lifesciencedb.jp
Syndrome 症候群 MeSH lifesciencedb.jp


Chemicals

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 MeSH term Japanese Link 01


Biological Phenomena

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 MeSH term Japanese Link 01
Muscle Tonus 筋緊張 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Phenotype 表現型 MeSH lifesciencedb.jp
Consanguinity 血族 MeSH lifesciencedb.jp
Lod Score ロッドスコア MeSH lifesciencedb.jp
Haplotypes ハプロタイプ MeSH lifesciencedb.jp
Genes, Recessive 劣性遺伝子 MeSH lifesciencedb.jp
Genes, Dominant 優性遺伝子 MeSH lifesciencedb.jp


Anatomy

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 MeSH term Japanese Link 01
Iris 虹彩 MeSH lifesciencedb.jp
Anterior Chamber 前眼房 MeSH lifesciencedb.jp
Pupil 瞳孔 MeSH lifesciencedb.jp
Mesoderm 中胚葉 MeSH lifesciencedb.jp
Oculomotor Muscles 眼筋 MeSH lifesciencedb.jp
Cornea 角膜 MeSH lifesciencedb.jp
Chromosomes, Human, Pair 16 ヒト第16染色体 MeSH lifesciencedb.jp
Skull 頭蓋骨 MeSH lifesciencedb.jp
Face 顔面 MeSH lifesciencedb.jp
Bone and Bones 骨 MeSH lifesciencedb.jp
Brain 脳 MeSH lifesciencedb.jp


Organisms

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 MeSH term Japanese Link 01
Humans ヒト MeSH lifesciencedb.jp


Database Center for Life Science