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Fraser Syndrome

Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
推出的年份: 2011
副标题
树号: C05.116.099.370.894.819.428, C05.660.585.800.428, C05.660.906.819.428, C11.250.390, C12.050.351.875.397, C12.200.706.410, C12.800.410, C16.131.077.371, C16.131.384.442, C16.131.621.585.800.428, C16.131.621.906.819.428, C16.131.939.410
MeSH 单一 ID: D058497
进入的组:
  • Syndrome, Fraser
  • Cryptophthalmos with Other Malformations
  • Cryptophthalmos-Syndactyly Syndrome
  • Cryptophthalmos Syndactyly Syndrome
  • Cryptophthalmos-Syndactyly Syndromes

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