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MeSH 搜索器

CHARGE Syndrome

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
推出的年份: 2011
副标题
树号: C11.270.147.500, C16.131.077.239, C16.320.165
MeSH 单一 ID: D058747
进入的组:
  • CHARGE Syndromes
  • Syndrome, CHARGE
  • Hall-Hittner Syndrome
  • Hall Hittner Syndrome
  • Syndrome, Hall-Hittner
  • CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
  • CHARGE Association
  • Association, CHARGE
  • Associations, CHARGE
  • CHARGE Associations
  • Familial CHARGE Syndrome
  • CHARGE Syndrome, Familial
  • CHARGE Syndromes, Familial
  • Familial CHARGE Syndromes

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