CHARGE syndrome: 2005.
Carey
John C
JC
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002754:Choanal Atresia / Q000473:pathology*; D003103:Coloboma / Q000473:pathology*; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D003638:Deafness / Q000473:pathology; D004423:Ear / Q000002:abnormalities; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D009154:Mutation; D013577:Syndrome
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human