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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.

Year introduced: 2011

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Subheadings:

Tree Number(s): C09.218.458.341.186.500.250, C10.597.751.418.341.186.500.250, C10.597.751.941.162.625.250, C11.270.147.500, C11.966.075.375.250, C16.131.077.299.250, C16.320.165, C23.888.592.763.393.341.186.500.500, C23.888.592.763.941.162.625.500

MeSH Unique ID: D058747

Entry Terms:

  • CHARGE Syndromes
  • CHARGE Association
  • CHARGE Associations
  • Hall-Hittner Syndrome
  • Hall Hittner Syndrome
  • CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
  • Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
  • Familial CHARGE Syndrome
  • CHARGE Syndrome, Familial
  • CHARGE Syndromes, Familial
  • Familial CHARGE Syndromes

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