{"orpha":435606,"name":"Genetic nose and cavum anomaly","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-435606/","orphanet_url":"https://www.orpha.net/en/disease/detail/435606","names":{"fr":{"name":"Anomalie du nez et du cavum d'origine génétique"},"de":{"name":"Nasen- und Nasenrachenraumanomalie, genetisch bedingte"},"es":{"name":"Anomalía genética del cavum y la nariz genética"},"it":{"name":"Anomalia genetica del naso e del rinofaringe"},"nl":{"name":"Genetische anomalie van neus en neusholte"},"pt":{"name":"Anomalia genética do nariz e cavum"},"pl":{"name":"Wada genetyczna nosa i jamy nosowej"},"cs":{"name":"Geneticky podmíněné anomálie nosu a dutin"},"uk":{"name":"Генетично обумовлена аномалія носа та порожнини рота"},"zh":{"name":"遗传性鼻和鼻腔异常"},"tr":{"name":"Genetik burun ve kavum anomalisi"}},"xrefs":[{"source":"UMLS","code":"C5681174","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435603,"name":"Genetic otorhinolaryngological malformation","classifications":[156]}],"children":[{"orpha":217266,"name":"BNAR syndrome","type":"Malformation syndrome"},{"orpha":2695,"name":"Bifid nose","type":"Malformation syndrome"},{"orpha":1252,"name":"Blepharonasofacial malformation syndrome","type":"Malformation syndrome"},{"orpha":1200,"name":"Burn-McKeown syndrome","type":"Malformation syndrome"},{"orpha":589856,"name":"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome","type":"Malformation syndrome"},{"orpha":451612,"name":"Familial congenital nasolacrimal duct obstruction","type":"Morphological anomaly"},{"orpha":2250,"name":"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome","type":"Disease"},{"orpha":137622,"name":"Intractable diarrhea-choanal atresia-eye anomalies syndrome","type":"Malformation syndrome"},{"orpha":2363,"name":"Lacrimoauriculodentodigital syndrome","type":"Malformation syndrome"},{"orpha":99141,"name":"Lymphedema-posterior choanal atresia syndrome","type":"Malformation syndrome"},{"orpha":3026,"name":"Radial ray hypoplasia-choanal atresia syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}