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