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Disease CHARGE Syndrome

Name CHARGE Syndrome
Synonyms Association, CHARGE | Associations, CHARGE | CHARGE Association | CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies | CHARGE Associations | CHARGE Syndrome, Familial | CHARGE Syndromes | CHARGE Syndromes, Familial | Familial CHARGE Syndrome | Familial CHARGE Syndromes | Hall Hittner Syndrome | Hall-Hittner Syndrome | HHS | Syndrome, CHARGE | Syndrome, Hall-Hittner
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.
Categories Congenital abnormality | Genetic disease (inborn)
MeSH® ID D058747
OMIM® ID 214800
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes CHARGE Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references CHARGE Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

None.