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中文Cantu Syndrome (HTOCD)
Alias:
Hypertrichotic Osteochondrodysplasia
Hypertrichotic Osteochondrodysplasia Cantu Type
Cantú Syndrome
Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum
Congenital Hypertrichosis-Coarse Facial Features Spectrum
Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome
Osteochondrodysplasia, Hypertrichotic
Htocd
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坎图综合症，又名超毛状骨关节发育不良，与动脉导管未闭1和扩张型心肌病1o有关。与坎图综合症相关的重要基因是ABCC9（ATP结合盒C家族成员9），其相关通路/超级通路包括化学突触传递和钾通道。附属组织包括骨和心脏，相关表型为粗犷的面部特征和厚的朱砂边。
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MALACARDS
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