{"id":"https://openalex.org/T13738","display_name":"Congenital Ear and Nasal Anomalies","description":"This cluster of papers focuses on CHARGE syndrome, a genetic disorder caused by mutations in the CHD7 gene. It covers a wide range of topics including the phenotypic spectrum, diagnostic criteria, craniofacial and neurological abnormalities, as well as related conditions such as choanal atresia and hypogonadotropic hypogonadism.","keywords":[{"id":"https://openalex.org/keywords/charge-syndrome","display_name":"CHARGE syndrome","score":0.6072},{"id":"https://openalex.org/keywords/choanal-atresia","display_name":"choanal atresia","score":0.6185},{"id":"https://openalex.org/keywords/inner-ear-malformation","display_name":"inner ear malformation","score":0.3673},{"id":"https://openalex.org/keywords/congenital-ear-malformation","display_name":"congenital ear anomalies","score":0.3572},{"id":"https://openalex.org/keywords/chd7","display_name":"CHD7","score":0.3722},{"id":"https://openalex.org/keywords/ear-anomalies","display_name":"ear anomalies","score":0.3763},{"id":"https://openalex.org/keywords/ear-malformations","display_name":"ear malformations","score":0.3244},{"id":"https://openalex.org/keywords/bilateral-choanal-atresia","display_name":"bilateral choanal atresia","score":0.9238},{"id":"https://openalex.org/keywords/congenital-nasal-malformation","display_name":"congenital nasal malformation","score":0.367},{"id":"https://openalex.org/keywords/congenital-inner-ear-malformation","display_name":"congenital inner ear malformation","score":0.5526},{"id":"https://openalex.org/keywords/middle-ear-malformation","display_name":"middle ear malformation","score":0.3491},{"id":"https://openalex.org/keywords/inner-ear-anomalies","display_name":"inner ear anomalies","score":0.5345},{"id":"https://openalex.org/keywords/congenital-nasal-obstruction","display_name":"congenital nasal obstruction","score":0.753},{"id":"https://openalex.org/keywords/congenital-choanal-atresia","display_name":"congenital choanal atresia","score":0.7258},{"id":"https://openalex.org/keywords/unilateral-choanal-atresia","display_name":"unilateral choanal atresia","score":0.8154},{"id":"https://openalex.org/keywords/choanal-stenosis","display_name":"choanal stenosis","score":0.4939},{"id":"https://openalex.org/keywords/branchio-oto-renal-syndrome","display_name":"branchio-oto-renal syndrome","score":0.3279},{"id":"https://openalex.org/keywords/external-ear-malformation","display_name":"external ear malformation","score":0.3921},{"id":"https://openalex.org/keywords/cochlear-hypoplasia","display_name":"cochlear hypoplasia","score":0.4981},{"id":"https://openalex.org/keywords/middle-ear-anomalies","display_name":"middle ear anomalies","score":0.418},{"id":"https://openalex.org/keywords/choana","display_name":"choana","score":0.2607},{"id":"https://openalex.org/keywords/external-auditory-canal-atresia","display_name":"external auditory canal atresia","score":0.2998},{"id":"https://openalex.org/keywords/cochlear-malformation","display_name":"cochlear malformation","score":0.2797},{"id":"https://openalex.org/keywords/mondini-malformation","display_name":"Mondini malformation","score":0.4095},{"id":"https://openalex.org/keywords/oculo-auriculo-vertebral-spectrum","display_name":"oculo-auriculo-vertebral spectrum","score":0.2234}],"legacy_keywords":"CHD7 Gene; Genetic Mutations; Neural Crest Formation; Phenotypic Spectrum; Diagnostic Criteria; Craniofacial Development; Hypogonadotropic Hypogonadism; Choanal Atresia; Cochlear Implantation; Neurological Abnormalities","ids":{"openalex":"https://openalex.org/T13738","wikipedia":"https://en.wikipedia.org/wiki/CHARGE_syndrome"},"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"},"siblings":[{"id":"https://openalex.org/T10129","display_name":"Glioma Diagnosis and Treatment"},{"id":"https://openalex.org/T10176","display_name":"Mesenchymal stem cell research"},{"id":"https://openalex.org/T10554","display_name":"Hemoglobinopathies and Related Disorders"},{"id":"https://openalex.org/T11157","display_name":"Chronic Lymphocytic Leukemia Research"},{"id":"https://openalex.org/T11628","display_name":"Myeloproliferative Neoplasms: Diagnosis and Treatment"},{"id":"https://openalex.org/T11917","display_name":"Coagulation, Bradykinin, Polyphosphates, and Angioedema"},{"id":"https://openalex.org/T12199","display_name":"Vascular Anomalies and Treatments"},{"id":"https://openalex.org/T12400","display_name":"Neurogenetic and Muscular Disorders Research"}],"works_count":10989,"cited_by_count":89290,"works_api_url":"https://api.openalex.org/works?filter=topics.id:T13738","updated_date":"2026-10-21T03:01:35","created_date":"2024-01-23T15:27:19"}