CHARGE Syndrome

**Definition:** 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.

**Tree numbers:** - 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

**Synonyms:** - CHARGE Association - 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